ClinVar Miner

List of variants studied for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form

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Total variants: 1231
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp) rs10282312 0.98349
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=) rs2272251 0.44456
NM_000083.3(CLCN1):c.1402-9C>T rs2272252 0.44267
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu) rs13438232 0.39778
NM_000083.3(CLCN1):c.261C>T (p.Thr87=) rs6962852 0.37404
NM_000083.3(CLCN1):c.1401+17T>C rs7794560 0.14458
NM_000083.3(CLCN1):c.-21C>T rs34904831 0.04948
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=) rs78085922 0.01785
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_000083.3(CLCN1):c.352= (p.Gly118=) rs10282312 0.01651
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) rs111482384 0.01028
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536 0.00935
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054 0.00927
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622 0.00916
NM_000083.3(CLCN1):c.1797-9C>T rs41276057 0.00913
NM_000083.3(CLCN1):c.1065-16T>C rs113764654 0.00833
NM_000083.3(CLCN1):c.302-4C>T rs113839156 0.00780
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077 0.00775
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_000083.3(CLCN1):c.663G>A (p.Ala221=) rs147317366 0.00424
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val) rs145517198 0.00313
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029 0.00231
NM_000083.3(CLCN1):c.2509-3C>T rs375341574 0.00208
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115 0.00187
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732 0.00155
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705 0.00132
NM_000083.3(CLCN1):c.2364+10G>A rs201855153 0.00098
NM_000083.3(CLCN1):c.1990C>T (p.His664Tyr) rs201218706 0.00097
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val) rs139659129 0.00091
NM_000083.3(CLCN1):c.1815T>C (p.Val605=) rs141945240 0.00087
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932 0.00070
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692 0.00060
NM_000083.3(CLCN1):c.633C>T (p.Ala211=) rs138246784 0.00056
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) rs144612641 0.00054
NM_000083.3(CLCN1):c.853+17C>A rs201114390 0.00044
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000083.3(CLCN1):c.1776C>T (p.Asp592=) rs148132102 0.00038
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) rs80356706 0.00035
NM_000083.3(CLCN1):c.2785A>T (p.Thr929Ser) rs143075418 0.00034
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys) rs139262486 0.00031
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334 0.00030
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) rs121912799 0.00028
NM_000083.3(CLCN1):c.2541C>T (p.His847=) rs146653916 0.00027
NM_000083.3(CLCN1):c.563-9C>T rs201404573 0.00025
NM_000083.3(CLCN1):c.1583-20G>A rs371387287 0.00024
NM_000083.3(CLCN1):c.900G>A (p.Arg300=) rs149578972 0.00022
NM_000083.3(CLCN1):c.804G>A (p.Thr268=) rs141521078 0.00021
NM_000083.3(CLCN1):c.1583-12G>A rs374736253 0.00019
NM_000083.3(CLCN1):c.180+3A>T rs202217420 0.00019
NM_000083.3(CLCN1):c.2028G>A (p.Glu676=) rs543195467 0.00019
NM_000083.3(CLCN1):c.2172+3G>A rs758964825 0.00019
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) rs756353660 0.00016
NM_000083.3(CLCN1):c.1310C>T (p.Ala437Val) rs563423438 0.00015
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797 0.00015
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp) rs146862992 0.00015
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331 0.00014
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679 0.00013
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp) rs376026619 0.00011
NM_000083.3(CLCN1):c.1402-18C>T rs371600067 0.00011
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro) rs112282456 0.00010
NM_000083.3(CLCN1):c.2596-9G>T rs200308662 0.00010
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213 0.00009
NM_000083.3(CLCN1):c.133A>G (p.Arg45Gly) rs371715660 0.00009
NM_000083.3(CLCN1):c.1605C>T (p.Ala535=) rs200676193 0.00009
NM_000083.3(CLCN1):c.2062_2063insTTC (p.Gly688delinsValArg) rs770836890 0.00009
NM_000083.3(CLCN1):c.2403+4A>C rs372826693 0.00009
NM_000083.3(CLCN1):c.262G>A (p.Val88Met) rs147581794 0.00009
NM_000083.3(CLCN1):c.2681G>A (p.Arg894Gln) rs145412643 0.00009
NM_000083.3(CLCN1):c.434-14A>G rs200263856 0.00009
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val) rs969430772 0.00009
NM_000083.3(CLCN1):c.24G>A (p.Gln8=) rs150304865 0.00008
NM_000083.3(CLCN1):c.2544C>T (p.Leu848=) rs140111476 0.00008
NM_000083.3(CLCN1):c.434-4G>A rs368048336 0.00008
NM_000083.3(CLCN1):c.595C>T (p.Arg199Cys) rs143506735 0.00008
NM_000083.3(CLCN1):c.637G>A (p.Val213Met) rs756755417 0.00008
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) rs189963844 0.00008
NM_000083.3(CLCN1):c.987C>T (p.Ile329=) rs140664749 0.00008
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser) rs140536210 0.00007
NM_000083.3(CLCN1):c.180+11C>T rs540424567 0.00007
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro) rs199610988 0.00007
NM_000083.3(CLCN1):c.2875A>G (p.Ser959Gly) rs779694767 0.00007
NM_000083.3(CLCN1):c.120G>C (p.Gly40=) rs200344297 0.00006
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723 0.00006
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000083.3(CLCN1):c.2509-14C>G rs761510529 0.00006
NM_000083.3(CLCN1):c.2901C>T (p.Ala967=) rs143082508 0.00006
NM_000083.3(CLCN1):c.345G>A (p.Gly115=) rs755112173 0.00006
NM_000083.3(CLCN1):c.369T>C (p.Leu123=) rs745674068 0.00006
NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys) rs143025648 0.00006
NM_000083.3(CLCN1):c.762C>T (p.Cys254=) rs772027125 0.00006
NM_000083.3(CLCN1):c.957G>A (p.Leu319=) rs746212684 0.00006
NM_000083.3(CLCN1):c.1263C>T (p.Arg421=) rs745472087 0.00005
NM_000083.3(CLCN1):c.1311G>A (p.Ala437=) rs766616816 0.00005
NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro) rs768582911 0.00005
NM_000083.3(CLCN1):c.2124C>T (p.Phe708=) rs769811983 0.00005
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) rs775384507 0.00005
NM_000083.3(CLCN1):c.2693G>A (p.Gly898Glu) rs149188892 0.00005
NM_000083.3(CLCN1):c.2937C>T (p.Asp979=) rs776873546 0.00005
NM_000083.3(CLCN1):c.664G>A (p.Gly222Ser) rs747078264 0.00005
NM_000083.3(CLCN1):c.853+7G>A rs111386182 0.00005
NM_000083.3(CLCN1):c.1085G>C (p.Gly362Ala) rs758597490 0.00004
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000083.3(CLCN1):c.1358G>A (p.Arg453Gln) rs754440141 0.00004
NM_000083.3(CLCN1):c.1371C>T (p.Val457=) rs368928958 0.00004
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys) rs767366093 0.00004
NM_000083.3(CLCN1):c.1593G>A (p.Ala531=) rs367696668 0.00004
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358 0.00004
NM_000083.3(CLCN1):c.1807A>T (p.Ile603Phe) rs908274887 0.00004
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys) rs146469288 0.00004
NM_000083.3(CLCN1):c.2197C>T (p.Pro733Ser) rs780173260 0.00004
NM_000083.3(CLCN1):c.2265G>A (p.Pro755=) rs761474906 0.00004
NM_000083.3(CLCN1):c.2411C>T (p.Ala804Val) rs146453561 0.00004
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) rs749205522 0.00004
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) rs767209392 0.00004
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) rs745329674 0.00004
NM_000083.3(CLCN1):c.264G>A (p.Val88=) rs759188441 0.00004
NM_000083.3(CLCN1):c.2833G>A (p.Gly945Ser) rs774199742 0.00004
NM_000083.3(CLCN1):c.2848G>A (p.Glu950Lys) rs201506176 0.00004
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462 0.00004
NM_000083.3(CLCN1):c.452C>T (p.Ala151Val) rs145280046 0.00004
NM_000083.3(CLCN1):c.616T>C (p.Tyr206His) rs963470037 0.00004
NM_000083.3(CLCN1):c.726T>A (p.Cys242Ter) rs757481015 0.00004
NM_000083.3(CLCN1):c.780A>G (p.Pro260=) rs1339281633 0.00004
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701 0.00004
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703 0.00003
NM_000083.3(CLCN1):c.1060A>G (p.Ile354Val) rs563864511 0.00003
NM_000083.3(CLCN1):c.1099T>A (p.Tyr367Asn) rs1031445351 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg) rs746125212 0.00003
NM_000083.3(CLCN1):c.1467G>A (p.Val489=) rs773153574 0.00003
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly) rs1441046956 0.00003
NM_000083.3(CLCN1):c.1650G>A (p.Thr550=) rs778647317 0.00003
NM_000083.3(CLCN1):c.1689T>A (p.Val563=) rs371701131 0.00003
NM_000083.3(CLCN1):c.180+10T>C rs758693006 0.00003
NM_000083.3(CLCN1):c.2012T>G (p.Leu671Arg) rs772516304 0.00003
NM_000083.3(CLCN1):c.2047G>C (p.Glu683Gln) rs760351874 0.00003
NM_000083.3(CLCN1):c.2097C>T (p.Gly699=) rs778181599 0.00003
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr) rs139881658 0.00003
NM_000083.3(CLCN1):c.2443T>C (p.Cys815Arg) rs752494680 0.00003
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs) rs780534566 0.00003
NM_000083.3(CLCN1):c.2596-1G>A rs771721648 0.00003
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=) rs760793323 0.00003
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) rs150796358 0.00003
NM_000083.3(CLCN1):c.286T>C (p.Tyr96His) rs1320351683 0.00003
NM_000083.3(CLCN1):c.33T>C (p.Gly11=) rs780696139 0.00003
NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser) rs201113768 0.00003
NM_000083.3(CLCN1):c.705C>T (p.Phe235=) rs760323048 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000083.3(CLCN1):c.1342G>A (p.Val448Met) rs200371691 0.00002
NM_000083.3(CLCN1):c.1393G>A (p.Val465Ile) rs139158852 0.00002
NM_000083.3(CLCN1):c.1416C>T (p.Ile472=) rs372034290 0.00002
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys) rs546411827 0.00002
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992 0.00002
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) rs80356697 0.00002
NM_000083.3(CLCN1):c.1723C>T (p.Pro575Ser) rs766432255 0.00002
NM_000083.3(CLCN1):c.1767C>T (p.Tyr589=) rs746535507 0.00002
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) rs746346988 0.00002
NM_000083.3(CLCN1):c.1872del (p.Glu624fs) rs1424799320 0.00002
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile) rs749762818 0.00002
NM_000083.3(CLCN1):c.1922A>G (p.Asp641Gly) rs760693424 0.00002
NM_000083.3(CLCN1):c.1955T>C (p.Val652Ala) rs1803209631 0.00002
NM_000083.3(CLCN1):c.2022C>G (p.Ala674=) rs762947178 0.00002
NM_000083.3(CLCN1):c.2026G>C (p.Glu676Gln) rs750187204 0.00002
NM_000083.3(CLCN1):c.2087G>A (p.Gly696Glu) rs1243583996 0.00002
NM_000083.3(CLCN1):c.2108G>C (p.Gly703Ala) rs1428234081 0.00002
NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys) rs754581538 0.00002
NM_000083.3(CLCN1):c.2338C>T (p.Arg780Cys) rs138062220 0.00002
NM_000083.3(CLCN1):c.2341C>T (p.Pro781Ser) rs117661165 0.00002
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter) rs772150974 0.00002
NM_000083.3(CLCN1):c.2509-16T>G rs774042985 0.00002
NM_000083.3(CLCN1):c.2595+8C>T rs760261738 0.00002
NM_000083.3(CLCN1):c.2647C>A (p.Pro883Thr) rs764347321 0.00002
NM_000083.3(CLCN1):c.392T>C (p.Val131Ala) rs769391461 0.00002
NM_000083.3(CLCN1):c.434-5C>T rs1290037207 0.00002
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe) rs1554434802 0.00002
NM_000083.3(CLCN1):c.655C>T (p.Leu219=) rs1427322271 0.00002
NM_000083.3(CLCN1):c.720C>T (p.Ser240=) rs764402957 0.00002
NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter) rs561470261 0.00002
NM_000083.3(CLCN1):c.774+1G>A rs776073429 0.00002
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687 0.00002
NM_000083.3(CLCN1):c.829T>C (p.Cys277Arg) rs757109632 0.00002
NM_000083.3(CLCN1):c.830dup (p.Cys277fs) rs140026363 0.00002
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) rs764100025 0.00002
NM_000083.3(CLCN1):c.898C>T (p.Arg300Trp) rs368280521 0.00002
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) rs774396430 0.00002
NM_000083.3(CLCN1):c.99C>T (p.Tyr33=) rs138922145 0.00002
NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg) rs200889399 0.00001
NM_000083.3(CLCN1):c.1062C>T (p.Ile354=) rs1014782276 0.00001
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881 0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760 0.00001
NM_000083.3(CLCN1):c.1065-5C>T rs369660130 0.00001
NM_000083.3(CLCN1):c.1102C>A (p.Leu368Met) rs1198219818 0.00001
NM_000083.3(CLCN1):c.1107T>C (p.His369=) rs955748180 0.00001
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) rs201714423 0.00001
NM_000083.3(CLCN1):c.1149C>A (p.Ser383Arg) rs376144544 0.00001
NM_000083.3(CLCN1):c.1168C>T (p.Arg390Cys) rs547603982 0.00001
NM_000083.3(CLCN1):c.1235A>C (p.Gln412Pro) rs1279658001 0.00001
NM_000083.3(CLCN1):c.1241T>C (p.Met414Thr) rs368276618 0.00001
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) rs1023099235 0.00001
NM_000083.3(CLCN1):c.1247G>A (p.Gly416Glu) rs1360333956 0.00001
NM_000083.3(CLCN1):c.1250A>G (p.Glu417Gly) rs1288398919 0.00001
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) rs756981034 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1264G>A (p.Glu422Lys) rs889073641 0.00001
NM_000083.3(CLCN1):c.1280T>C (p.Leu427Ser) rs375292685 0.00001
NM_000083.3(CLCN1):c.1308C>T (p.His436=) rs772518279 0.00001
NM_000083.3(CLCN1):c.1366G>A (p.Val456Ile) rs922819878 0.00001
NM_000083.3(CLCN1):c.1388T>G (p.Phe463Cys) rs1064796557 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000083.3(CLCN1):c.13C>T (p.Arg5Trp) rs1322496244 0.00001
NM_000083.3(CLCN1):c.1401+13A>T rs376582730 0.00001
NM_000083.3(CLCN1):c.1401+1G>T rs769861892 0.00001
NM_000083.3(CLCN1):c.1414A>G (p.Ile472Val) rs767231116 0.00001
NM_000083.3(CLCN1):c.1443C>T (p.Cys481=) rs781587827 0.00001
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212 0.00001
NM_000083.3(CLCN1):c.1448G>A (p.Gly483Asp) rs1336878695 0.00001
NM_000083.3(CLCN1):c.1459G>A (p.Val487Met) rs749370790 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.1471+9T>C rs904183230 0.00001
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) rs770900468 0.00001
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) rs121912801 0.00001
NM_000083.3(CLCN1):c.1533G>A (p.Leu511=) rs373731688 0.00001
NM_000083.3(CLCN1):c.1580T>G (p.Ile527Ser) rs1319653705 0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) rs80356704 0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696 0.00001
NM_000083.3(CLCN1):c.165C>T (p.Asn55=) rs753251995 0.00001
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile) rs202120426 0.00001
NM_000083.3(CLCN1):c.1674C>A (p.Pro558=) rs761240483 0.00001
NM_000083.3(CLCN1):c.1726T>G (p.Ser576Ala) rs1161052414 0.00001
NM_000083.3(CLCN1):c.1785G>A (p.Trp595Ter) rs376321837 0.00001
NM_000083.3(CLCN1):c.1814T>C (p.Val605Ala) rs773422802 0.00001
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His) rs763850295 0.00001
NM_000083.3(CLCN1):c.1863A>G (p.Thr621=) rs369099862 0.00001
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) rs201894078 0.00001
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu) rs772430525 0.00001
NM_000083.3(CLCN1):c.1930+1G>A rs771002652 0.00001
NM_000083.3(CLCN1):c.1931-5C>T rs1192488651 0.00001
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro) rs754350357 0.00001
NM_000083.3(CLCN1):c.1953G>T (p.Ser651=) rs1375543643 0.00001
NM_000083.3(CLCN1):c.1976C>T (p.Ala659Val) rs1336908700 0.00001
NM_000083.3(CLCN1):c.1977C>A (p.Ala659=) rs904572417 0.00001
NM_000083.3(CLCN1):c.1988G>A (p.Arg663His) rs1212604561 0.00001
NM_000083.3(CLCN1):c.2000C>T (p.Pro667Leu) rs1424224517 0.00001
NM_000083.3(CLCN1):c.2015G>C (p.Arg672Pro) rs777888721 0.00001
NM_000083.3(CLCN1):c.2056T>G (p.Tyr686Asp) rs1359747708 0.00001
NM_000083.3(CLCN1):c.2058C>G (p.Tyr686Ter) rs1417174086 0.00001
NM_000083.3(CLCN1):c.209C>T (p.Ser70Leu) rs769312894 0.00001
NM_000083.3(CLCN1):c.2148C>T (p.Asp716=) rs773044948 0.00001
NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr) rs886062033 0.00001
NM_000083.3(CLCN1):c.2172+1G>T rs1273524525 0.00001
NM_000083.3(CLCN1):c.2172G>T (p.Glu724Asp) rs753308829 0.00001
NM_000083.3(CLCN1):c.2233A>G (p.Asn745Asp) rs745586869 0.00001
NM_000083.3(CLCN1):c.2239C>T (p.Pro747Ser) rs373850192 0.00001
NM_000083.3(CLCN1):c.2243T>G (p.Leu748Arg) rs768009397 0.00001
NM_000083.3(CLCN1):c.2247T>G (p.Pro749=) rs762200215 0.00001
NM_000083.3(CLCN1):c.2253C>G (p.His751Gln) rs767926364 0.00001
NM_000083.3(CLCN1):c.2274A>G (p.Pro758=) rs753967995 0.00001
NM_000083.3(CLCN1):c.2284+13C>T rs781213675 0.00001
NM_000083.3(CLCN1):c.2284+19G>A rs769666294 0.00001
NM_000083.3(CLCN1):c.2284+3G>A rs755127390 0.00001
NM_000083.3(CLCN1):c.2285-12C>G rs767588787 0.00001
NM_000083.3(CLCN1):c.2339G>A (p.Arg780His) rs529481237 0.00001
NM_000083.3(CLCN1):c.2364+2T>A rs886041384 0.00001
NM_000083.3(CLCN1):c.2365-3T>C rs770158484 0.00001
NM_000083.3(CLCN1):c.2390T>C (p.Met797Thr) rs368445765 0.00001
NM_000083.3(CLCN1):c.2403+5G>A rs1474520642 0.00001
NM_000083.3(CLCN1):c.244A>G (p.Thr82Ala) rs772100356 0.00001
NM_000083.3(CLCN1):c.2497A>G (p.Thr833Ala) rs112068131 0.00001
NM_000083.3(CLCN1):c.2533G>C (p.Gly845Arg) rs755433272 0.00001
NM_000083.3(CLCN1):c.2577C>T (p.Gly859=) rs530181794 0.00001
NM_000083.3(CLCN1):c.2616G>A (p.Gly872=) rs1007992593 0.00001
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) rs1057518917 0.00001
NM_000083.3(CLCN1):c.2641C>T (p.Arg881Cys) rs1473430259 0.00001
NM_000083.3(CLCN1):c.2663G>A (p.Arg888Gln) rs771890096 0.00001
NM_000083.3(CLCN1):c.266A>G (p.Asp89Gly) rs948634525 0.00001
NM_000083.3(CLCN1):c.2724C>G (p.Asn908Lys) rs139117651 0.00001
NM_000083.3(CLCN1):c.2800C>T (p.Pro934Ser) rs1168501752 0.00001
NM_000083.3(CLCN1):c.289T>C (p.Ser97Pro) rs201591839 0.00001
NM_000083.3(CLCN1):c.2944G>A (p.Asp982Asn) rs1803424950 0.00001
NM_000083.3(CLCN1):c.299A>G (p.Gln100Arg) rs1586483209 0.00001
NM_000083.3(CLCN1):c.302-12A>T rs1802404579 0.00001
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603 0.00001
NM_000083.3(CLCN1):c.411C>T (p.Tyr137=) rs773806167 0.00001
NM_000083.3(CLCN1):c.432G>A (p.Gln144=) rs921731349 0.00001
NM_000083.3(CLCN1):c.433+13T>C rs765455785 0.00001
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr) rs140726900 0.00001
NM_000083.3(CLCN1):c.453G>A (p.Ala151=) rs147642088 0.00001
NM_000083.3(CLCN1):c.47G>A (p.Trp16Ter) rs769092535 0.00001
NM_000083.3(CLCN1):c.496A>T (p.Thr166Ser) rs1418010822 0.00001
NM_000083.3(CLCN1):c.523A>G (p.Ser175Gly) rs555680428 0.00001
NM_000083.3(CLCN1):c.531C>T (p.Leu177=) rs375897422 0.00001
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro) rs1554434814 0.00001
NM_000083.3(CLCN1):c.551C>T (p.Pro184Leu) rs1397098562 0.00001
NM_000083.3(CLCN1):c.554A>G (p.Gln185Arg) rs1802432204 0.00001
NM_000083.3(CLCN1):c.563-8G>A rs763640926 0.00001
NM_000083.3(CLCN1):c.572T>C (p.Ile191Thr) rs756669568 0.00001
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) rs80356686 0.00001
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) rs80356685 0.00001
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile) rs769612798 0.00001
NM_000083.3(CLCN1):c.632C>T (p.Ala211Val) rs761511512 0.00001
NM_000083.3(CLCN1):c.662C>T (p.Ala221Val) rs748415883 0.00001
NM_000083.3(CLCN1):c.697-16G>A rs781286294 0.00001
NM_000083.3(CLCN1):c.697-9C>A rs201207110 0.00001
NM_000083.3(CLCN1):c.69G>A (p.Gln23=) rs760729130 0.00001
NM_000083.3(CLCN1):c.719G>A (p.Ser240Asn) rs758767069 0.00001
NM_000083.3(CLCN1):c.756G>A (p.Val252=) rs886062034 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) rs770605959 0.00001
NM_000083.3(CLCN1):c.789del (p.Ser264fs) rs770081373 0.00001
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr) rs1475869303 0.00001
NM_000083.3(CLCN1):c.817G>A (p.Val273Met) rs921162119 0.00001
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile) rs759703560 0.00001
NM_000083.3(CLCN1):c.854-2A>G rs1802699135 0.00001
NM_000083.3(CLCN1):c.861A>G (p.Leu287=) rs771454498 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) rs1229066957 0.00001
NM_000083.3(CLCN1):c.91A>G (p.Thr31Ala) rs756977743 0.00001
NM_000083.3(CLCN1):c.922G>C (p.Ala308Pro) rs1330549395 0.00001
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) rs80356691 0.00001
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) rs80356692 0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) rs1478129213 0.00001
NM_000083.3(CLCN1):c.975T>C (p.Asp325=) rs1243380901 0.00001
NC_000007.13:g.(?_143013209)_(143049107_?)del
NC_000007.13:g.(?_143013306)_(143013505_?)del
NC_000007.13:g.(?_143013306)_(143049058_?)dup
NC_000007.13:g.(?_143013350)_(143018251_?)del
NC_000007.13:g.(?_143013355)_(143018256_?)del
NC_000007.13:g.(?_143027845)_(143028765_?)del
NC_000007.13:g.(?_143029321)_(143029798_?)del
NC_000007.13:g.(?_143039002)_(143044062_?)del
NC_000007.13:g.(?_143042594)_(143044062_?)del
NC_000007.13:g.(?_143047445)_(143049058_?)del
NC_000007.13:g.(?_143047445)_(143049078_?)dup
NC_000007.14:g.(?_143324401)_(143331662_?)del
NC_000007.14:g.(?_143345501)_(143350674_?)del
NC_000007.14:g.143323310del rs1423567292
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala) rs2116852900
NM_000083.3(CLCN1):c.1004C>T (p.Thr335Ile)
NM_000083.3(CLCN1):c.1005C>A (p.Thr335=) rs1802715432
NM_000083.3(CLCN1):c.1006A>G (p.Asn336Asp) rs2116852905
NM_000083.3(CLCN1):c.1007A>G (p.Asn336Ser)
NM_000083.3(CLCN1):c.1010T>G (p.Phe337Cys) rs1802715644
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.3(CLCN1):c.1016T>C (p.Met339Thr)
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu) rs1554436510
NM_000083.3(CLCN1):c.1031A>G (p.Asp344Gly)
NM_000083.3(CLCN1):c.1032C>T (p.Asp344=) rs1802716501
NM_000083.3(CLCN1):c.1033C>T (p.Leu345=)
NM_000083.3(CLCN1):c.1038_1039del (p.Glu347fs)
NM_000083.3(CLCN1):c.1044_1056del (p.Ala350fs)
NM_000083.3(CLCN1):c.105G>C (p.Leu35=)
NM_000083.3(CLCN1):c.1064+10G>T
NM_000083.3(CLCN1):c.1064+17G>C
NM_000083.3(CLCN1):c.1064+19T>C
NM_000083.3(CLCN1):c.1064+20C>G
NM_000083.3(CLCN1):c.1064+6del rs1482886131
NM_000083.3(CLCN1):c.1065-13dup rs2116853321
NM_000083.3(CLCN1):c.1065-15A>G
NM_000083.3(CLCN1):c.1065-17A>C
NM_000083.3(CLCN1):c.1079T>G (p.Leu360Arg)
NM_000083.3(CLCN1):c.107C>T (p.Pro36Leu)
NM_000083.3(CLCN1):c.1080C>T (p.Leu360=)
NM_000083.3(CLCN1):c.1081C>T (p.Leu361=)
NM_000083.3(CLCN1):c.1083G>C (p.Leu361=)
NM_000083.3(CLCN1):c.1086A>T (p.Gly362=)
NM_000083.3(CLCN1):c.108C>G (p.Pro36=)
NM_000083.3(CLCN1):c.108C>T (p.Pro36=) rs749833088
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
NM_000083.3(CLCN1):c.1092A>G (p.Val364=)
NM_000083.3(CLCN1):c.1096G>C (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu) rs1554436573
NM_000083.3(CLCN1):c.1109G>A (p.Arg370His)
NM_000083.3(CLCN1):c.1111del (p.Gln371fs)
NM_000083.3(CLCN1):c.1114G>A (p.Val372Ile)
NM_000083.3(CLCN1):c.1116C>T (p.Val372=)
NM_000083.3(CLCN1):c.1128C>G (p.Val376=)
NM_000083.3(CLCN1):c.1130G>A (p.Arg377Gln)
NM_000083.3(CLCN1):c.1131A>G (p.Arg377=)
NM_000083.3(CLCN1):c.1134G>A (p.Lys378=)
NM_000083.3(CLCN1):c.1149C>T (p.Ser383=)
NM_000083.3(CLCN1):c.1158T>G (p.Leu386=)
NM_000083.3(CLCN1):c.1166+10T>A
NM_000083.3(CLCN1):c.1166+10T>C
NM_000083.3(CLCN1):c.1166+15T>G
NM_000083.3(CLCN1):c.1166+17C>G
NM_000083.3(CLCN1):c.1166+19T>C
NM_000083.3(CLCN1):c.1166+5G>A rs1586497958
NM_000083.3(CLCN1):c.1167-14dup
NM_000083.3(CLCN1):c.1167-15C>T
NM_000083.3(CLCN1):c.1167-16T>G
NM_000083.3(CLCN1):c.1167-9C>A rs770515905
NM_000083.3(CLCN1):c.1169G>A (p.Arg390His)
NM_000083.3(CLCN1):c.1169G>T (p.Arg390Leu)
NM_000083.3(CLCN1):c.1173G>A (p.Leu391=)
NM_000083.3(CLCN1):c.1176G>A (p.Leu392=) rs199898178
NM_000083.3(CLCN1):c.1176G>C (p.Leu392=)
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) rs1554436799
NM_000083.3(CLCN1):c.1179T>G (p.Tyr393Ter)
NM_000083.3(CLCN1):c.1182T>C (p.Pro394=)
NM_000083.3(CLCN1):c.1185A>G (p.Gly395=)
NM_000083.3(CLCN1):c.1190T>A (p.Val397Asp) rs368958317
NM_000083.3(CLCN1):c.1195T>C (p.Phe399Leu)
NM_000083.3(CLCN1):c.120G>A (p.Gly40=)
NM_000083.3(CLCN1):c.1215C>T (p.Thr405=)
NM_000083.3(CLCN1):c.1226G>A (p.Gly409Glu) rs1802752292
NM_000083.3(CLCN1):c.1227A>T (p.Gly409=)
NM_000083.3(CLCN1):c.1228A>G (p.Met410Val)
NM_000083.3(CLCN1):c.122del (p.Gly41fs) rs1802291231
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) rs756199349
NM_000083.3(CLCN1):c.1233T>C (p.Gly411=)
NM_000083.3(CLCN1):c.1236A>G (p.Gln412=) rs2116854694
NM_000083.3(CLCN1):c.1243G>A (p.Ala415Thr) rs1023099235
NM_000083.3(CLCN1):c.1244C>T (p.Ala415Val)
NM_000083.3(CLCN1):c.1247_1251+8del
NM_000083.3(CLCN1):c.1251+11G>T rs780748786
NM_000083.3(CLCN1):c.1251+12G>T
NM_000083.3(CLCN1):c.1251+14G>A rs1027351084
NM_000083.3(CLCN1):c.1251+17G>A
NM_000083.3(CLCN1):c.1251+5G>A rs1802753836
NM_000083.3(CLCN1):c.1251+9T>C
NM_000083.3(CLCN1):c.1252-10C>T
NM_000083.3(CLCN1):c.1252-1G>T
NM_000083.3(CLCN1):c.1252-7C>T
NM_000083.3(CLCN1):c.1254G>T (p.Leu418Phe)
NM_000083.3(CLCN1):c.1255A>T (p.Met419Leu)
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) rs763633152
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu) rs780834658
NM_000083.3(CLCN1):c.1269dup (p.Ile424fs) rs2116855121
NM_000083.3(CLCN1):c.1276A>C (p.Thr426Pro) rs749846585
NM_000083.3(CLCN1):c.127C>T (p.Gln43Ter)
NM_000083.3(CLCN1):c.1280del (p.Leu427fs)
NM_000083.3(CLCN1):c.1281del (p.Leu427fs) rs2116855161
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs) rs752041565
NM_000083.3(CLCN1):c.1286A>G (p.Asp429Gly) rs1001314584
NM_000083.3(CLCN1):c.128A>C (p.Gln43Pro) rs868831424
NM_000083.3(CLCN1):c.1290C>T (p.Asn430=)
NM_000083.3(CLCN1):c.1296A>G (p.Thr432=)
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg) rs1027814542
NM_000083.3(CLCN1):c.1298G>C (p.Trp433Ser) rs1486868849
NM_000083.3(CLCN1):c.1298G>T (p.Trp433Leu)
NM_000083.3(CLCN1):c.1299G>A (p.Trp433Ter) rs1802763171
NM_000083.3(CLCN1):c.1310_1311del (p.Ala437fs)
NM_000083.3(CLCN1):c.1314T>G (p.Gly438=)
NM_000083.3(CLCN1):c.1329G>A (p.Leu443=)
NM_000083.3(CLCN1):c.132C>T (p.His44=) rs2116829588
NM_000083.3(CLCN1):c.1342G>C (p.Val448Leu)
NM_000083.3(CLCN1):c.1347del (p.Val448_Trp449insTer)
NM_000083.3(CLCN1):c.1348A>T (p.Ile450Phe) rs2116855321
NM_000083.3(CLCN1):c.1353C>A (p.His451Gln)
NM_000083.3(CLCN1):c.1353C>T (p.His451=)
NM_000083.3(CLCN1):c.1354C>T (p.Pro452Ser) rs1416813045
NM_000083.3(CLCN1):c.1357del (p.Arg453fs) rs1586499614
NM_000083.3(CLCN1):c.1357dup (p.Arg453fs) rs1586499614
NM_000083.3(CLCN1):c.1359G>A (p.Arg453=)
NM_000083.3(CLCN1):c.1359G>T (p.Arg453=)
NM_000083.3(CLCN1):c.135G>A (p.Arg45=)
NM_000083.3(CLCN1):c.1365C>T (p.Asn455=)
NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu) rs776848644
NM_000083.3(CLCN1):c.1400A>G (p.Lys467Arg)
NM_000083.3(CLCN1):c.1401+11T>G
NM_000083.3(CLCN1):c.1401+19_1401+20insTG
NM_000083.3(CLCN1):c.1401+1G>A rs769861892
NM_000083.3(CLCN1):c.1401+20C>A
NM_000083.3(CLCN1):c.1401+20C>T
NM_000083.3(CLCN1):c.1401+7_1401+12dup
NM_000083.3(CLCN1):c.1401+9C>T
NM_000083.3(CLCN1):c.1401G>A (p.Lys467=) rs2116855428
NM_000083.3(CLCN1):c.1402-16C>T
NM_000083.3(CLCN1):c.1402-17G>A
NM_000083.3(CLCN1):c.1402-19A>G
NM_000083.3(CLCN1):c.1402-4C>A
NM_000083.3(CLCN1):c.1402-9_1402-8delinsTC rs2116864660
NM_000083.3(CLCN1):c.1407G>A (p.Trp469Ter)
NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln)
NM_000083.3(CLCN1):c.1417G>A (p.Val473Met)
NM_000083.3(CLCN1):c.1424C>T (p.Thr475Ile)
NM_000083.3(CLCN1):c.1428T>C (p.Thr476=)
NM_000083.3(CLCN1):c.1433C>T (p.Pro478Leu)
NM_000083.3(CLCN1):c.1434C>A (p.Pro478=)
NM_000083.3(CLCN1):c.1435A>T (p.Ile479Leu)
NM_000083.3(CLCN1):c.1436T>C (p.Ile479Thr) rs1803011827
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000083.3(CLCN1):c.1439C>A (p.Pro480His) rs80356694
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) rs80356694
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1449C>T (p.Gly483=) rs2116864808
NM_000083.3(CLCN1):c.144G>A (p.Lys48=) rs560922211
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu) rs1312002847
NM_000083.3(CLCN1):c.1454T>A (p.Met485Lys)
NM_000083.3(CLCN1):c.1461G>A (p.Val487=)
NM_000083.3(CLCN1):c.1471+11A>T
NM_000083.3(CLCN1):c.1471+13G>A
NM_000083.3(CLCN1):c.1471+14G>A
NM_000083.3(CLCN1):c.1471+15G>A
NM_000083.3(CLCN1):c.1471+15G>T
NM_000083.3(CLCN1):c.1471+17A>G
NM_000083.3(CLCN1):c.1471+1G>T
NM_000083.3(CLCN1):c.1471+20C>T
NM_000083.3(CLCN1):c.1471+2del rs2116864878
NM_000083.3(CLCN1):c.1471G>C (p.Gly491Arg)
NM_000083.3(CLCN1):c.1472-14T>C
NM_000083.3(CLCN1):c.1472-18C>T
NM_000083.3(CLCN1):c.1472-19C>T
NM_000083.3(CLCN1):c.1472-2A>G rs2116865174
NM_000083.3(CLCN1):c.1472-6C>T rs1380393304
NM_000083.3(CLCN1):c.1472-8C>A
NM_000083.3(CLCN1):c.1476T>C (p.Ala492=)
NM_000083.3(CLCN1):c.147T>C (p.Asp49=) rs1586479527
NM_000083.3(CLCN1):c.1482T>C (p.Phe494=) rs745690349
NM_000083.3(CLCN1):c.1484G>A (p.Gly495Glu)
NM_000083.3(CLCN1):c.1490T>G (p.Leu497Arg) rs1586507943
NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg) rs121912807
NM_000083.3(CLCN1):c.1496G>A (p.Gly499Glu) rs1803022284
NM_000083.3(CLCN1):c.149C>G (p.Ala50Gly)
NM_000083.3(CLCN1):c.14G>A (p.Arg5Gln)
NM_000083.3(CLCN1):c.1500A>G (p.Glu500=)
NM_000083.3(CLCN1):c.1509C>T (p.Ala503=)
NM_000083.3(CLCN1):c.1510A>G (p.Met504Val) rs1803022969
NM_000083.3(CLCN1):c.1515C>G (p.Leu505=)
NM_000083.3(CLCN1):c.1515C>T (p.Leu505=) rs1285977938
NM_000083.3(CLCN1):c.1517T>G (p.Phe506Cys) rs1271778777
NM_000083.3(CLCN1):c.151G>A (p.Gly51Ser)
NM_000083.3(CLCN1):c.1525G>A (p.Gly509Ser)
NM_000083.3(CLCN1):c.1536T>C (p.Phe512=)
NM_000083.3(CLCN1):c.1540G>A (p.Asp514Asn) rs756490905
NM_000083.3(CLCN1):c.1545C>T (p.Ile515=)
NM_000083.3(CLCN1):c.154C>G (p.Pro52Ala) rs1802292476
NM_000083.3(CLCN1):c.1562_1563del (p.Pro521fs)
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp) rs1460714146
NM_000083.3(CLCN1):c.156C>T (p.Pro52=) rs886062032
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) rs1563083476
NM_000083.3(CLCN1):c.1572T>C (p.Tyr524=)
NM_000083.3(CLCN1):c.1575A>G (p.Ala525=) rs1332372122
NM_000083.3(CLCN1):c.1580T>C (p.Ile527Thr) rs1319653705
NM_000083.3(CLCN1):c.1582+12T>A
NM_000083.3(CLCN1):c.1582+14C>A
NM_000083.3(CLCN1):c.1582+17C>T
NM_000083.3(CLCN1):c.1582+1G>A
NM_000083.3(CLCN1):c.1582+5G>A
NM_000083.3(CLCN1):c.1582+7A>T rs1586508119
NM_000083.3(CLCN1):c.1583-10G>A
NM_000083.3(CLCN1):c.1583-12G>C
NM_000083.3(CLCN1):c.1583-13T>A
NM_000083.3(CLCN1):c.1583-15C>A
NM_000083.3(CLCN1):c.1588G>A (p.Ala530Thr)
NM_000083.3(CLCN1):c.158G>T (p.Arg53Leu)
NM_000083.3(CLCN1):c.1592del (p.Ala531fs)
NM_000083.3(CLCN1):c.15G>T (p.Arg5=)
NM_000083.3(CLCN1):c.1604C>T (p.Ala535Val) rs752814433
NM_000083.3(CLCN1):c.1606G>C (p.Val536Leu)
NM_000083.3(CLCN1):c.1607T>C (p.Val536Ala)
NM_000083.3(CLCN1):c.160_176del (p.His54fs)
NM_000083.3(CLCN1):c.1616_1617del (p.Thr539fs) rs1554438432
NM_000083.3(CLCN1):c.1621T>G (p.Ser541Ala) rs1563084569
NM_000083.3(CLCN1):c.1627_1628delinsAT (p.Ala543Ile) rs2116372748
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met) rs1554438433
NM_000083.3(CLCN1):c.1641C>T (p.Phe547=)
NM_000083.3(CLCN1):c.1642G>T (p.Glu548Ter)
NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs) rs1563084597
NM_000083.3(CLCN1):c.1647A>G (p.Leu549=)
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg) rs762754992
NM_000083.3(CLCN1):c.1652G>C (p.Gly551Ala)
NM_000083.3(CLCN1):c.1657A>T (p.Ile553Phe)
NM_000083.3(CLCN1):c.1662T>C (p.Ala554=)
NM_000083.3(CLCN1):c.1666A>T (p.Ile556Phe)
NM_000083.3(CLCN1):c.166G>T (p.Val56Phe)
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser) rs1586510615
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr) rs1269268607
NM_000083.3(CLCN1):c.168C>T (p.Val56=) rs2116829709
NM_000083.3(CLCN1):c.1695G>A (p.Leu565=)
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000083.3(CLCN1):c.1698C>T (p.Ala566=)
NM_000083.3(CLCN1):c.1699A>C (p.Asn567His)
NM_000083.3(CLCN1):c.1701C>A (p.Asn567Lys) rs779726850
NM_000083.3(CLCN1):c.1701C>T (p.Asn567=)
NM_000083.3(CLCN1):c.1707G>A (p.Val569=)
NM_000083.3(CLCN1):c.1707G>T (p.Val569=)
NM_000083.3(CLCN1):c.1717C>T (p.Leu573=)
NM_000083.3(CLCN1):c.1719G>T (p.Leu573=)
NM_000083.3(CLCN1):c.1722G>A (p.Gln574=)
NM_000083.3(CLCN1):c.1727C>G (p.Ser576Cys)
NM_000083.3(CLCN1):c.1727C>T (p.Ser576Phe) rs143825889
NM_000083.3(CLCN1):c.1731C>G (p.Leu577=)
NM_000083.3(CLCN1):c.1734T>C (p.Tyr578=)
NM_000083.3(CLCN1):c.1740C>T (p.Ser580=)
NM_000083.3(CLCN1):c.1741A>C (p.Ile581Leu) rs1803094547
NM_000083.3(CLCN1):c.174C>G (p.Pro58=) rs1586479588
NM_000083.3(CLCN1):c.174del (p.Thr59fs)
NM_000083.3(CLCN1):c.1751T>A (p.Val584Asp)
NM_000083.3(CLCN1):c.1770G>A (p.Leu590=)
NM_000083.3(CLCN1):c.1775A>G (p.Asp592Gly)
NM_000083.3(CLCN1):c.1779T>C (p.Leu593=)
NM_000083.3(CLCN1):c.177A>G (p.Thr59=) rs1586479596
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter) rs1586510870
NM_000083.3(CLCN1):c.1788C>T (p.Asn596=)
NM_000083.3(CLCN1):c.1791_1792del (p.Gln597fs) rs2116373517
NM_000083.3(CLCN1):c.1796+15A>G
NM_000083.3(CLCN1):c.1796+16C>T
NM_000083.3(CLCN1):c.1796+17G>A
NM_000083.3(CLCN1):c.1796+1G>A
NM_000083.3(CLCN1):c.1796+7G>A
NM_000083.3(CLCN1):c.1796+7G>C
NM_000083.3(CLCN1):c.1796+8G>A
NM_000083.3(CLCN1):c.1796+8G>T
NM_000083.3(CLCN1):c.1797-18T>C
NM_000083.3(CLCN1):c.1797-19A>G
NM_000083.3(CLCN1):c.1797-20C>G
NM_000083.3(CLCN1):c.180+12T>C
NM_000083.3(CLCN1):c.180+18G>A
NM_000083.3(CLCN1):c.180+18G>C
NM_000083.3(CLCN1):c.180+1G>A
NM_000083.3(CLCN1):c.180+2_180+8del
NM_000083.3(CLCN1):c.180+4A>G rs2116829759
NM_000083.3(CLCN1):c.180+8G>T
NM_000083.3(CLCN1):c.1800A>G (p.Lys600=)
NM_000083.3(CLCN1):c.1805C>A (p.Thr602Asn)
NM_000083.3(CLCN1):c.1806C>T (p.Thr602=) rs767752623
NM_000083.3(CLCN1):c.181-12C>G
NM_000083.3(CLCN1):c.181-14C>G
NM_000083.3(CLCN1):c.181-2A>G rs1802376231
NM_000083.3(CLCN1):c.1812T>C (p.Phe604=)
NM_000083.3(CLCN1):c.181A>C (p.Ile61Leu)
NM_000083.3(CLCN1):c.1825A>C (p.Met609Leu)
NM_000083.3(CLCN1):c.1839G>C (p.Val613=)
NM_000083.3(CLCN1):c.1849del (p.Ser617fs)
NM_000083.3(CLCN1):c.1868G>C (p.Gly623Ala)
NM_000083.3(CLCN1):c.1869G>A (p.Gly623=)
NM_000083.3(CLCN1):c.1870G>A (p.Glu624Lys)
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
NM_000083.3(CLCN1):c.187G>A (p.Gly63Ser)
NM_000083.3(CLCN1):c.1881C>A (p.Thr627=)
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro) rs1009716258
NM_000083.3(CLCN1):c.1887C>A (p.Leu629=)
NM_000083.3(CLCN1):c.1897A>G (p.Thr633Ala)
NM_000083.3(CLCN1):c.1898C>T (p.Thr633Ile)
NM_000083.3(CLCN1):c.189C>A (p.Gly63=) rs2116834513
NM_000083.3(CLCN1):c.18A>G (p.Ser6=)
NM_000083.3(CLCN1):c.1902C>G (p.Val634=)
NM_000083.3(CLCN1):c.1907C>A (p.Thr636Asn) rs1803111177
NM_000083.3(CLCN1):c.1909T>C (p.Leu637=)
NM_000083.3(CLCN1):c.1909_1910del (p.Leu637fs) rs1237554305
NM_000083.3(CLCN1):c.1910T>A (p.Leu637Ter) rs2116374801
NM_000083.3(CLCN1):c.1918del (p.Val640fs) rs1554438574
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly) rs1803111906
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter) rs1803112361
NM_000083.3(CLCN1):c.1930+15A>G
NM_000083.3(CLCN1):c.1930+16G>A
NM_000083.3(CLCN1):c.1930+7G>A
NM_000083.3(CLCN1):c.1930+8G>A
NM_000083.3(CLCN1):c.1931-16C>T
NM_000083.3(CLCN1):c.1931-1G>C rs2116383424
NM_000083.3(CLCN1):c.1931-20A>C
NM_000083.3(CLCN1):c.1931A>G (p.Asp644Gly)
NM_000083.3(CLCN1):c.1936A>T (p.Met646Leu) rs1156766492
NM_000083.3(CLCN1):c.193C>G (p.His65Asp)
NM_000083.3(CLCN1):c.1942C>T (p.Leu648=)
NM_000083.3(CLCN1):c.1943T>C (p.Leu648Pro)
NM_000083.3(CLCN1):c.1948G>A (p.Gly650Ser) rs1181586555
NM_000083.3(CLCN1):c.1948G>T (p.Gly650Cys)
NM_000083.3(CLCN1):c.1955_1966del (p.Val652_Ser655del) rs1803209334
NM_000083.3(CLCN1):c.1960C>A (p.Arg654=)
NM_000083.3(CLCN1):c.1961G>T (p.Arg654Leu) rs1322769496
NM_000083.3(CLCN1):c.1962G>A (p.Arg654=)
NM_000083.3(CLCN1):c.1965G>A (p.Ser655=) rs1445646671
NM_000083.3(CLCN1):c.1966G>A (p.Glu656Lys) rs1224200077
NM_000083.3(CLCN1):c.1966del (p.Glu656fs) rs1586514992
NM_000083.3(CLCN1):c.1978C>A (p.Leu660Ile) rs1803210699
NM_000083.3(CLCN1):c.1978del (p.Leu660fs)
NM_000083.3(CLCN1):c.1980C>T (p.Leu660=)
NM_000083.3(CLCN1):c.1981C>T (p.Leu661=)
NM_000083.3(CLCN1):c.1983G>T (p.Leu661=)
NM_000083.3(CLCN1):c.1985del (p.Gln662fs)
NM_000083.3(CLCN1):c.198del (p.Glu67fs)
NM_000083.3(CLCN1):c.19C>T (p.Gln7Ter)
NM_000083.3(CLCN1):c.2005C>A (p.Arg669Ser) rs748537564
NM_000083.3(CLCN1):c.2005C>T (p.Arg669Cys)
NM_000083.3(CLCN1):c.2007C>G (p.Arg669=) rs2116383865
NM_000083.3(CLCN1):c.2007C>T (p.Arg669=)
NM_000083.3(CLCN1):c.200_215del (p.Glu67fs) rs2116834548
NM_000083.3(CLCN1):c.2013G>A (p.Leu671=)
NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro) rs200385034
NM_000083.3(CLCN1):c.2017_2018del (p.Ala673fs) rs1586515112
NM_000083.3(CLCN1):c.2023del (p.Gln675fs) rs886042007
NM_000083.3(CLCN1):c.2029A>G (p.Met677Val)
NM_000083.3(CLCN1):c.202C>T (p.Gln68Ter)
NM_000083.3(CLCN1):c.2045del (p.Ser682fs) rs2116384132
NM_000083.3(CLCN1):c.2046G>C (p.Ser682=) rs1803216040
NM_000083.3(CLCN1):c.2048A>C (p.Glu683Ala)
NM_000083.3(CLCN1):c.204A>G (p.Gln68=) rs1802376686
NM_000083.3(CLCN1):c.2050_2051delinsGG (p.Leu684Gly) rs1803216360
NM_000083.3(CLCN1):c.2052G>A (p.Leu684=)
NM_000083.3(CLCN1):c.2058C>A (p.Tyr686Ter) rs1417174086
NM_000083.3(CLCN1):c.2058C>T (p.Tyr686=)
NM_000083.3(CLCN1):c.2061C>T (p.Asp687=)
NM_000083.3(CLCN1):c.2062G>T (p.Gly688Trp) rs1563087092
NM_000083.3(CLCN1):c.207C>T (p.Phe69=)
NM_000083.3(CLCN1):c.2082G>A (p.Gly694=)
NM_000083.3(CLCN1):c.2082G>T (p.Gly694=)
NM_000083.3(CLCN1):c.2083G>C (p.Glu695Gln)
NM_000083.3(CLCN1):c.2089C>A (p.Leu697Ile) rs2116384407
NM_000083.3(CLCN1):c.2091C>T (p.Leu697=)
NM_000083.3(CLCN1):c.2093_2105del (p.Pro698fs)
NM_000083.3(CLCN1):c.2094C>T (p.Pro698=) rs758874120
NM_000083.3(CLCN1):c.2097C>A (p.Gly699=)
NM_000083.3(CLCN1):c.2097C>G (p.Gly699=) rs778181599
NM_000083.3(CLCN1):c.2099C>A (p.Ala700Glu)
NM_000083.3(CLCN1):c.209C>A (p.Ser70Ter)
NM_000083.3(CLCN1):c.2100G>T (p.Ala700=)
NM_000083.3(CLCN1):c.2106A>G (p.Pro702=)
NM_000083.3(CLCN1):c.2111G>A (p.Arg704Gln) rs984151770
NM_000083.3(CLCN1):c.2114C>T (p.Pro705Leu)
NM_000083.3(CLCN1):c.2115C>G (p.Pro705=)
NM_000083.3(CLCN1):c.2124C>A (p.Phe708Leu)
NM_000083.3(CLCN1):c.2131G>C (p.Val711Leu) rs2116384678
NM_000083.3(CLCN1):c.2136TGAGGA[3] (p.713ED[4]) rs776429032
NM_000083.3(CLCN1):c.2148dup (p.Glu717fs) rs2116384782
NM_000083.3(CLCN1):c.2149del (p.Glu717fs)
NM_000083.3(CLCN1):c.214A>G (p.Arg72Gly) rs1219415384
NM_000083.3(CLCN1):c.2160T>C (p.Ser720=)
NM_000083.3(CLCN1):c.2161G>A (p.Gly721Ser) rs1300665013
NM_000083.3(CLCN1):c.2166G>A (p.Lys722=)
NM_000083.3(CLCN1):c.2171A>C (p.Glu724Ala) rs1803225186
NM_000083.3(CLCN1):c.2172+1G>A rs1273524525
NM_000083.3(CLCN1):c.2172+1G>C
NM_000083.3(CLCN1):c.2172+8_2172+9insA
NM_000083.3(CLCN1):c.2172+9G>A
NM_000083.3(CLCN1):c.2173-14dup
NM_000083.3(CLCN1):c.2173-15T>A
NM_000083.3(CLCN1):c.2173-16T>C
NM_000083.3(CLCN1):c.2173-17C>T
NM_000083.3(CLCN1):c.2173-3C>G rs1169171168
NM_000083.3(CLCN1):c.2173-5T>G
NM_000083.3(CLCN1):c.2193C>T (p.Leu731=)
NM_000083.3(CLCN1):c.219G>A (p.Glu73=)
NM_000083.3(CLCN1):c.2203A>G (p.Thr735Ala) rs539404339
NM_000083.3(CLCN1):c.2204C>T (p.Thr735Ile) rs1803237753
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter) rs1554434400
NM_000083.3(CLCN1):c.2215_2216del (p.Leu739fs) rs1803238026
NM_000083.3(CLCN1):c.2221C>G (p.Pro741Ala)
NM_000083.3(CLCN1):c.2238G>C (p.Gly746=)
NM_000083.3(CLCN1):c.2242C>T (p.Leu748=) rs1803240251
NM_000083.3(CLCN1):c.224A>T (p.Asp75Val) rs1586483060
NM_000083.3(CLCN1):c.2250C>G (p.Gly750=)
NM_000083.3(CLCN1):c.2255A>G (p.Lys752Arg) rs2116386398
NM_000083.3(CLCN1):c.2264C>T (p.Pro755Leu) rs1803241372
NM_000083.3(CLCN1):c.2271_2272del (p.Pro758fs)
NM_000083.3(CLCN1):c.2279C>A (p.Pro760His)
NM_000083.3(CLCN1):c.2284+12C>G rs1472307602
NM_000083.3(CLCN1):c.2284+12C>T
NM_000083.3(CLCN1):c.2284+1G>A
NM_000083.3(CLCN1):c.2284+6G>A
NM_000083.3(CLCN1):c.2284+7C>G
NM_000083.3(CLCN1):c.2285-10G>A
NM_000083.3(CLCN1):c.2285-13C>T
NM_000083.3(CLCN1):c.2285-15C>A rs758496771
NM_000083.3(CLCN1):c.2285-1G>C rs1222525763
NM_000083.3(CLCN1):c.2285-5C>G
NM_000083.3(CLCN1):c.2285-5C>T
NM_000083.3(CLCN1):c.2285-7C>T
NM_000083.3(CLCN1):c.2285-8C>T
NM_000083.3(CLCN1):c.228A>C (p.Ile76=)
NM_000083.3(CLCN1):c.2295C>T (p.Pro765=) rs370616385
NM_000083.3(CLCN1):c.2304C>T (p.Phe768=)
NM_000083.3(CLCN1):c.2328G>T (p.Leu776=)
NM_000083.3(CLCN1):c.2329G>C (p.Gly777Arg) rs2116387531
NM_000083.3(CLCN1):c.2330G>T (p.Gly777Val) rs1803256620
NM_000083.3(CLCN1):c.2339G>T (p.Arg780Leu) rs529481237
NM_000083.3(CLCN1):c.2343del (p.Thr782fs)
NM_000083.3(CLCN1):c.235C>T (p.Pro79Ser)
NM_000083.3(CLCN1):c.2361C>T (p.Thr787=)
NM_000083.3(CLCN1):c.2362C>T (p.Gln788Ter)
NM_000083.3(CLCN1):c.2364+13G>A
NM_000083.3(CLCN1):c.2364+13G>T
NM_000083.3(CLCN1):c.2364+20G>A
NM_000083.3(CLCN1):c.2364+2T>C
NM_000083.3(CLCN1):c.2364+7G>C
NM_000083.3(CLCN1):c.2364+8G>A
NM_000083.3(CLCN1):c.2365-12T>C
NM_000083.3(CLCN1):c.2365-14T>C
NM_000083.3(CLCN1):c.2365-1G>A
NM_000083.3(CLCN1):c.2365-20C>T
NM_000083.3(CLCN1):c.2376T>A (p.Asp792Glu) rs1803265479
NM_000083.3(CLCN1):c.237C>T (p.Pro79=)
NM_000083.3(CLCN1):c.2388C>T (p.Asn796=) rs1586517500
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter) rs1131691551
NM_000083.3(CLCN1):c.2403+14A>C
NM_000083.3(CLCN1):c.2403+1G>A
NM_000083.3(CLCN1):c.2403+3G>A
NM_000083.3(CLCN1):c.2403+4A>G
NM_000083.3(CLCN1):c.2404-14C>A
NM_000083.3(CLCN1):c.2404-7C>T rs2116396569
NM_000083.3(CLCN1):c.2404-9G>A
NM_000083.3(CLCN1):c.2409G>A (p.Glu803=)
NM_000083.3(CLCN1):c.2418G>A (p.Glu806=)
NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter) rs1554439817
NM_000083.3(CLCN1):c.2431A>C (p.Ser811Arg) rs2116396688
NM_000083.3(CLCN1):c.2433C>T (p.Ser811=)
NM_000083.3(CLCN1):c.2437C>T (p.Pro813Ser)
NM_000083.3(CLCN1):c.2439T>C (p.Pro813=)
NM_000083.3(CLCN1):c.2442C>T (p.Val814=)
NM_000083.3(CLCN1):c.2448T>C (p.Phe816=)
NM_000083.3(CLCN1):c.2453C>A (p.Ser818Tyr)
NM_000083.3(CLCN1):c.245C>T (p.Thr82Ile) rs2116834657
NM_000083.3(CLCN1):c.2460T>C (p.Cys820=)
NM_000083.3(CLCN1):c.2461A>C (p.Ile821Leu)
NM_000083.3(CLCN1):c.2462T>C (p.Ile821Thr)
NM_000083.3(CLCN1):c.2463T>C (p.Ile821=)
NM_000083.3(CLCN1):c.2464G>A (p.Asp822Asn)
NM_000083.3(CLCN1):c.2464G>C (p.Asp822His) rs143146088
NM_000083.3(CLCN1):c.2467C>T (p.Gln823Ter)
NM_000083.3(CLCN1):c.2469G>A (p.Gln823=)
NM_000083.3(CLCN1):c.2495C>T (p.Thr832Ile) rs755343536
NM_000083.3(CLCN1):c.2498C>T (p.Thr833Ile)
NM_000083.3(CLCN1):c.2499C>G (p.Thr833=)
NM_000083.3(CLCN1):c.2503C>T (p.His835Tyr) rs2116397081
NM_000083.3(CLCN1):c.2505C>G (p.His835Gln)
NM_000083.3(CLCN1):c.2508+11T>G rs1391949112
NM_000083.3(CLCN1):c.2508+12G>A
NM_000083.3(CLCN1):c.2508+12G>C
NM_000083.3(CLCN1):c.2508+1G>A
NM_000083.3(CLCN1):c.2508+20C>T
NM_000083.3(CLCN1):c.2508+5G>A rs1401007697
NM_000083.3(CLCN1):c.2508+7del
NM_000083.3(CLCN1):c.2509-2A>C
NM_000083.3(CLCN1):c.2509-9C>T
NM_000083.3(CLCN1):c.2517C>G (p.Thr839=)
NM_000083.3(CLCN1):c.2519T>G (p.Leu840Arg)
NM_000083.3(CLCN1):c.2524del (p.Ser842fs)
NM_000083.3(CLCN1):c.2526A>G (p.Ser842=)
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro) rs1563090141
NM_000083.3(CLCN1):c.2531T>C (p.Leu844Pro) rs2116397538
NM_000083.3(CLCN1):c.2532T>C (p.Leu844=)
NM_000083.3(CLCN1):c.2535C>T (p.Gly845=) rs1803368206
NM_000083.3(CLCN1):c.2538C>T (p.Leu846=)
NM_000083.3(CLCN1):c.253A>G (p.Ser85Gly) rs1193157349
NM_000083.3(CLCN1):c.2542C>G (p.Leu848Val)
NM_000083.3(CLCN1):c.2564G>A (p.Gly855Glu) rs1554439879
NM_000083.3(CLCN1):c.2565G>A (p.Gly855=)
NM_000083.3(CLCN1):c.2565del (p.Lys856fs)
NM_000083.3(CLCN1):c.2571C>G (p.Leu857=)
NM_000083.3(CLCN1):c.2576G>A (p.Gly859Asp)
NM_000083.3(CLCN1):c.2577C>G (p.Gly859=)
NM_000083.3(CLCN1):c.2580C>A (p.Val860=)
NM_000083.3(CLCN1):c.2581del (p.Leu861fs) rs2116397821
NM_000083.3(CLCN1):c.2592G>A (p.Glu864=) rs2116397844
NM_000083.3(CLCN1):c.2595+17C>A
NM_000083.3(CLCN1):c.2595+18C>T
NM_000083.3(CLCN1):c.2595+1G>A rs2116397860
NM_000083.3(CLCN1):c.2595+9G>A
NM_000083.3(CLCN1):c.2595G>A (p.Glu865=) rs2116397852
NM_000083.3(CLCN1):c.2596-11C>G rs2116400965
NM_000083.3(CLCN1):c.2596-16T>A
NM_000083.3(CLCN1):c.2596-4T>G rs2116401020
NM_000083.3(CLCN1):c.2596-7T>C rs2116401011
NM_000083.3(CLCN1):c.2596-8C>T
NM_000083.3(CLCN1):c.2596-9G>C rs200308662
NM_000083.3(CLCN1):c.259A>T (p.Thr87Ser)
NM_000083.3(CLCN1):c.25C>A (p.Arg9Ser) rs745344072
NM_000083.3(CLCN1):c.2607C>T (p.Ala869=) rs2116401054
NM_000083.3(CLCN1):c.2609T>C (p.Ile870Thr) rs1319094688
NM_000083.3(CLCN1):c.260C>T (p.Thr87Ile)
NM_000083.3(CLCN1):c.2610T>A (p.Ile870=)
NM_000083.3(CLCN1):c.2610T>C (p.Ile870=)
NM_000083.3(CLCN1):c.2612del (p.Glu871fs)
NM_000083.3(CLCN1):c.2617C>T (p.His873Tyr) rs2116401119
NM_000083.3(CLCN1):c.261C>A (p.Thr87=)
NM_000083.3(CLCN1):c.2621C>G (p.Thr874Ser)
NM_000083.3(CLCN1):c.2622C>G (p.Thr874=)
NM_000083.3(CLCN1):c.2625G>A (p.Lys875=) rs765869908
NM_000083.3(CLCN1):c.2649C>T (p.Pro883=)
NM_000083.3(CLCN1):c.2652T>G (p.Leu884=) rs2116401321
NM_000083.3(CLCN1):c.2653G>T (p.Ala885Ser) rs1803409136
NM_000083.3(CLCN1):c.2655dup (p.Ser886fs)
NM_000083.3(CLCN1):c.2657G>C (p.Ser886Thr)
NM_000083.3(CLCN1):c.2669C>T (p.Thr890Met) rs756135571
NM_000083.3(CLCN1):c.2670G>A (p.Thr890=)
NM_000083.3(CLCN1):c.2675C>A (p.Ser892Ter)
NM_000083.3(CLCN1):c.2680C>A (p.Arg894=) rs55960271
NM_000083.3(CLCN1):c.2683_2686del (p.Lys895fs)
NM_000083.3(CLCN1):c.2691C>T (p.Thr897=) rs777416660
NM_000083.3(CLCN1):c.2692G>A (p.Gly898Arg)
NM_000083.3(CLCN1):c.2695G>A (p.Ala899Thr)
NM_000083.3(CLCN1):c.2700T>A (p.Pro900=)
NM_000083.3(CLCN1):c.2704T>C (p.Ser902Pro) rs1803412320
NM_000083.3(CLCN1):c.2730T>C (p.Pro910=)
NM_000083.3(CLCN1):c.273G>A (p.Lys91=)
NM_000083.3(CLCN1):c.2749A>G (p.Thr917Ala) rs1803414359
NM_000083.3(CLCN1):c.2757A>G (p.Thr919=)
NM_000083.3(CLCN1):c.2765_2766del (p.Val922fs) rs1563091175
NM_000083.3(CLCN1):c.2772T>A (p.Ala924=)
NM_000083.3(CLCN1):c.2778C>A (p.Ser926=)
NM_000083.3(CLCN1):c.2778C>T (p.Ser926=)
NM_000083.3(CLCN1):c.277G>A (p.Glu93Lys)
NM_000083.3(CLCN1):c.2784_2785del (p.Glu928fs)
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.2796A>C (p.Pro932=)
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr) rs1448219970
NM_000083.3(CLCN1):c.2799T>G (p.Ser933=)
NM_000083.3(CLCN1):c.2803T>C (p.Ser935Pro) rs1803417569
NM_000083.3(CLCN1):c.2805C>T (p.Ser935=) rs2116402077
NM_000083.3(CLCN1):c.2811G>T (p.Glu937Asp)
NM_000083.3(CLCN1):c.2812C>T (p.Pro938Ser)
NM_000083.3(CLCN1):c.2814C>T (p.Pro938=)
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala) rs574104250
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val) rs1586483178
NM_000083.3(CLCN1):c.2821_2822del (p.Ser941fs)
NM_000083.3(CLCN1):c.2831C>T (p.Pro944Leu) rs1226179201
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.2847C>A (p.Gly949=)
NM_000083.3(CLCN1):c.285C>T (p.His95=)
NM_000083.3(CLCN1):c.2860C>G (p.Leu954Val)
NM_000083.3(CLCN1):c.2862G>A (p.Leu954=)
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)
NM_000083.3(CLCN1):c.2874G>A (p.Glu958=)
NM_000083.3(CLCN1):c.2880A>G (p.Pro960=)
NM_000083.3(CLCN1):c.2882G>A (p.Gly961Glu) rs1803422217
NM_000083.3(CLCN1):c.2889A>G (p.Glu963=)
NM_000083.3(CLCN1):c.2892G>A (p.Glu964=)
NM_000083.3(CLCN1):c.2896C>G (p.Leu966Val) rs138115069
NM_000083.3(CLCN1):c.2896C>T (p.Leu966=)
NM_000083.3(CLCN1):c.2898G>A (p.Leu966=)
NM_000083.3(CLCN1):c.2901C>A (p.Ala967=)
NM_000083.3(CLCN1):c.2902G>C (p.Asp968His) rs748630375
NM_000083.3(CLCN1):c.2904C>T (p.Asp968=)
NM_000083.3(CLCN1):c.2909T>A (p.Leu970Ter)
NM_000083.3(CLCN1):c.2937C>A (p.Asp979Glu)
NM_000083.3(CLCN1):c.2938G>A (p.Glu980Lys)
NM_000083.3(CLCN1):c.2940G>A (p.Glu980=)
NM_000083.3(CLCN1):c.2941G>A (p.Glu981Lys) rs1586524391
NM_000083.3(CLCN1):c.2945A>C (p.Asp982Ala)
NM_000083.3(CLCN1):c.2947G>A (p.Glu983Lys)
NM_000083.3(CLCN1):c.294A>C (p.Lys98Asn)
NM_000083.3(CLCN1):c.2960T>A (p.Ile987Asn)
NM_000083.3(CLCN1):c.2961C>T (p.Ile987=)
NM_000083.3(CLCN1):c.2962C>G (p.Leu988Val)
NM_000083.3(CLCN1):c.2962del (p.Leu988fs) rs748329158
NM_000083.3(CLCN1):c.297T>A (p.Cys99Ter)
NM_000083.3(CLCN1):c.301+13G>A
NM_000083.3(CLCN1):c.301+14A>G
NM_000083.3(CLCN1):c.302-13C>T
NM_000083.3(CLCN1):c.302-17C>T
NM_000083.3(CLCN1):c.302-18T>C
NM_000083.3(CLCN1):c.302-1G>A rs529377088
NM_000083.3(CLCN1):c.302-20T>G
NM_000083.3(CLCN1):c.302-2A>C
NM_000083.3(CLCN1):c.302-44_302-18del
NM_000083.3(CLCN1):c.302-5C>T
NM_000083.3(CLCN1):c.302-8C>T
NM_000083.3(CLCN1):c.302-9T>G
NM_000083.3(CLCN1):c.316del (p.Leu106fs)
NM_000083.3(CLCN1):c.324G>A (p.Gln108=)
NM_000083.3(CLCN1):c.32G>C (p.Gly11Ala) rs1563071875
NM_000083.3(CLCN1):c.32del (p.Gly11fs)
NM_000083.3(CLCN1):c.330G>A (p.Val110=)
NM_000083.3(CLCN1):c.342A>G (p.Leu114=)
NM_000083.3(CLCN1):c.343G>A (p.Gly115Arg) rs1802406028
NM_000083.3(CLCN1):c.346del (p.Glu116fs)
NM_000083.3(CLCN1):c.350A>G (p.Asp117Gly)
NM_000083.3(CLCN1):c.354G>A (p.Gly118=)
NM_000083.3(CLCN1):c.355A>G (p.Ile119Val)
NM_000083.3(CLCN1):c.360del (p.Leu121fs) rs2116836321
NM_000083.3(CLCN1):c.365T>A (p.Val122Glu) rs2116836338
NM_000083.3(CLCN1):c.36del (p.Glu12fs)
NM_000083.3(CLCN1):c.374G>A (p.Gly125Glu) rs1802406774
NM_000083.3(CLCN1):c.375A>C (p.Gly125=) rs2116836367
NM_000083.3(CLCN1):c.378dup (p.Leu127fs) rs1320040467
NM_000083.3(CLCN1):c.379C>T (p.Leu127=)
NM_000083.3(CLCN1):c.382A>G (p.Met128Val) rs80356699
NM_000083.3(CLCN1):c.392T>G (p.Val131Gly) rs769391461
NM_000083.3(CLCN1):c.393C>T (p.Val131=)
NM_000083.3(CLCN1):c.402C>T (p.Ser134=) rs748875679
NM_000083.3(CLCN1):c.404T>C (p.Met135Thr)
NM_000083.3(CLCN1):c.407A>C (p.Asp136Ala)
NM_000083.3(CLCN1):c.409T>C (p.Tyr137His) rs748639603
NM_000083.3(CLCN1):c.411C>A (p.Tyr137Ter)
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) rs1586484463
NM_000083.3(CLCN1):c.414C>G (p.Val138=)
NM_000083.3(CLCN1):c.414C>T (p.Val138=)
NM_000083.3(CLCN1):c.416G>A (p.Ser139Asn)
NM_000083.3(CLCN1):c.419C>A (p.Ala140Asp) rs1435631505
NM_000083.3(CLCN1):c.430C>G (p.Gln144Glu)
NM_000083.3(CLCN1):c.431A>G (p.Gln144Arg)
NM_000083.3(CLCN1):c.431dup (p.Ala145fs)
NM_000083.3(CLCN1):c.433+11C>A
NM_000083.3(CLCN1):c.433+12C>A
NM_000083.3(CLCN1):c.433+18C>T
NM_000083.3(CLCN1):c.433+1G>A
NM_000083.3(CLCN1):c.433+4G>C
NM_000083.3(CLCN1):c.433+4G>T
NM_000083.3(CLCN1):c.433G>T (p.Ala145Ser) rs1475533366
NM_000083.3(CLCN1):c.434-10G>A rs566067406
NM_000083.3(CLCN1):c.434-14A>C
NM_000083.3(CLCN1):c.434-17G>C
NM_000083.3(CLCN1):c.434-1G>A
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.434-4G>C
NM_000083.3(CLCN1):c.434-55_464del
NM_000083.3(CLCN1):c.434-6C>T
NM_000083.3(CLCN1):c.439A>C (p.Lys147Gln)
NM_000083.3(CLCN1):c.43T>C (p.Trp15Arg)
NM_000083.3(CLCN1):c.441G>A (p.Lys147=)
NM_000083.3(CLCN1):c.442T>C (p.Trp148Arg) rs1409574232
NM_000083.3(CLCN1):c.443G>A (p.Trp148Ter) rs2116837535
NM_000083.3(CLCN1):c.444dup (p.Ser149fs)
NM_000083.3(CLCN1):c.447C>T (p.Ser149=)
NM_000083.3(CLCN1):c.450C>A (p.Tyr150Ter)
NM_000083.3(CLCN1):c.469del (p.Leu157fs) rs1554434794
NM_000083.3(CLCN1):c.475del (p.Leu159fs) rs1802428440
NM_000083.3(CLCN1):c.478C>T (p.Gln160Ter) rs1586485406
NM_000083.3(CLCN1):c.480G>C (p.Gln160His) rs771532474
NM_000083.3(CLCN1):c.487G>A (p.Val163Ile) rs763587236
NM_000083.3(CLCN1):c.490T>C (p.Trp164Arg)
NM_000083.3(CLCN1):c.497C>G (p.Thr166Ser) rs759966057
NM_000083.3(CLCN1):c.498C>T (p.Thr166=)
NM_000083.3(CLCN1):c.504A>G (p.Pro168=)
NM_000083.3(CLCN1):c.50_434-202del
NM_000083.3(CLCN1):c.513C>T (p.Leu171=)
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe) rs992335710
NM_000083.3(CLCN1):c.518T>A (p.Leu173His)
NM_000083.3(CLCN1):c.519C>T (p.Leu173=)
NM_000083.3(CLCN1):c.525C>T (p.Ser175=)
NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp) rs574259784
NM_000083.3(CLCN1):c.529C>G (p.Leu177Val) rs766286036
NM_000083.3(CLCN1):c.532T>C (p.Phe178Leu)
NM_000083.3(CLCN1):c.53G>T (p.Ser18Ile)
NM_000083.3(CLCN1):c.542T>C (p.Leu181Pro) rs2116837812
NM_000083.3(CLCN1):c.546C>G (p.Ile182Met) rs980845093
NM_000083.3(CLCN1):c.549T>G (p.Ser183=)
NM_000083.3(CLCN1):c.555G>A (p.Gln185=)
NM_000083.3(CLCN1):c.559del (p.Val187fs)
NM_000083.3(CLCN1):c.562+15C>T
NM_000083.3(CLCN1):c.562+18G>T
NM_000083.3(CLCN1):c.562+19A>C
NM_000083.3(CLCN1):c.562G>A (p.Gly188Ser)
NM_000083.3(CLCN1):c.563-17T>C
NM_000083.3(CLCN1):c.563-19A>G
NM_000083.3(CLCN1):c.563-9C>A rs201404573
NM_000083.3(CLCN1):c.563G>A (p.Gly188Asp) rs1554434857
NM_000083.3(CLCN1):c.563G>T (p.Gly188Val) rs1554434857
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.569G>T (p.Gly190Val) rs746401512
NM_000083.3(CLCN1):c.571A>T (p.Ile191Phe) rs2116838394
NM_000083.3(CLCN1):c.576C>T (p.Pro192=)
NM_000083.3(CLCN1):c.578A>C (p.Glu193Ala)
NM_000083.3(CLCN1):c.57C>T (p.Asp19=)
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) rs1347382107
NM_000083.3(CLCN1):c.596G>A (p.Arg199His)
NM_000083.3(CLCN1):c.596G>C (p.Arg199Pro)
NM_000083.3(CLCN1):c.598G>A (p.Gly200Arg)
NM_000083.3(CLCN1):c.604G>T (p.Val202Phe)
NM_000083.3(CLCN1):c.606C>A (p.Val202=)
NM_000083.3(CLCN1):c.612G>A (p.Lys204=) rs775413124
NM_000083.3(CLCN1):c.618C>A (p.Tyr206Ter) rs1563074540
NM_000083.3(CLCN1):c.619C>T (p.Leu207Phe)
NM_000083.3(CLCN1):c.61del (p.Gln21fs)
NM_000083.3(CLCN1):c.61dup (p.Gln21fs)
NM_000083.3(CLCN1):c.626T>G (p.Met209Arg) rs1802444087
NM_000083.3(CLCN1):c.629A>G (p.Lys210Arg)
NM_000083.3(CLCN1):c.630A>G (p.Lys210=)
NM_000083.3(CLCN1):c.635T>G (p.Phe212Cys) rs201113768
NM_000083.3(CLCN1):c.642C>G (p.Ala214=)
NM_000083.3(CLCN1):c.642del (p.Lys215fs)
NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg) rs2116838620
NM_000083.3(CLCN1):c.663G>C (p.Ala221=) rs147317366
NM_000083.3(CLCN1):c.677G>A (p.Gly226Asp)
NM_000083.3(CLCN1):c.678C>T (p.Gly226=)
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn) rs1802446540
NM_000083.3(CLCN1):c.684C>G (p.Pro228=)
NM_000083.3(CLCN1):c.684C>T (p.Pro228=)
NM_000083.3(CLCN1):c.685G>A (p.Val229Met) rs761601545
NM_000083.3(CLCN1):c.687G>A (p.Val229=)
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu) rs1586486170
NM_000083.3(CLCN1):c.693A>C (p.Lys231Asn)
NM_000083.3(CLCN1):c.696+14G>A
NM_000083.3(CLCN1):c.696+14G>T
NM_000083.3(CLCN1):c.696+16C>G
NM_000083.3(CLCN1):c.696+20A>C
NM_000083.3(CLCN1):c.696+5G>A rs865899737
NM_000083.3(CLCN1):c.696G>A (p.Glu232=) rs923380712
NM_000083.3(CLCN1):c.696G>T (p.Glu232Asp) rs923380712
NM_000083.3(CLCN1):c.697-12C>T
NM_000083.3(CLCN1):c.697-13C>A
NM_000083.3(CLCN1):c.697-15C>A
NM_000083.3(CLCN1):c.697-15C>T
NM_000083.3(CLCN1):c.697-17C>T
NM_000083.3(CLCN1):c.697-19C>T
NM_000083.3(CLCN1):c.697-1G>C rs773025750
NM_000083.3(CLCN1):c.697-7C>T
NM_000083.3(CLCN1):c.697-9C>G
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) rs139039122
NM_000083.3(CLCN1):c.69G>C (p.Gln23His) rs760729130
NM_000083.3(CLCN1):c.702C>T (p.Pro234=)
NM_000083.3(CLCN1):c.702del (p.Phe235fs)
NM_000083.3(CLCN1):c.706G>A (p.Val236Ile)
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu) rs776173406
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) rs1064794643
NM_000083.3(CLCN1):c.710A>G (p.His237Arg) rs542648820
NM_000083.3(CLCN1):c.712A>G (p.Ile238Val) rs765718767
NM_000083.3(CLCN1):c.712A>T (p.Ile238Phe)
NM_000083.3(CLCN1):c.715G>C (p.Ala239Pro) rs1454438376
NM_000083.3(CLCN1):c.732T>A (p.Ala244=) rs1195242619
NM_000083.3(CLCN1):c.732T>C (p.Ala244=)
NM_000083.3(CLCN1):c.749T>C (p.Met250Thr) rs1586487813
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.750G>T (p.Met250Ile) rs754934082
NM_000083.3(CLCN1):c.751del (p.Ser251fs) rs1586487826
NM_000083.3(CLCN1):c.759C>G (p.Phe253Leu)
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp) rs772027125
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000083.3(CLCN1):c.765G>A (p.Gly255=)
NM_000083.3(CLCN1):c.768A>G (p.Val256=)
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter) rs1802495428
NM_000083.3(CLCN1):c.771T>C (p.Tyr257=)
NM_000083.3(CLCN1):c.774+13C>G
NM_000083.3(CLCN1):c.775-10C>T
NM_000083.3(CLCN1):c.775-12C>T
NM_000083.3(CLCN1):c.775-14C>T
NM_000083.3(CLCN1):c.775-16G>C
NM_000083.3(CLCN1):c.775-6T>C
NM_000083.3(CLCN1):c.775-7C>T
NM_000083.3(CLCN1):c.775-8C>T
NM_000083.3(CLCN1):c.775C>T (p.Gln259Ter) rs2116842799
NM_000083.3(CLCN1):c.782A>G (p.Tyr261Cys)
NM_000083.3(CLCN1):c.783C>G (p.Tyr261Ter)
NM_000083.3(CLCN1):c.791C>T (p.Ser264Phe) rs2116842824
NM_000083.3(CLCN1):c.795T>C (p.Asp265=)
NM_000083.3(CLCN1):c.809G>T (p.Gly270Val)
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg) rs1554435334
NM_000083.3(CLCN1):c.814_815delinsAA (p.Ala272Asn)
NM_000083.3(CLCN1):c.815C>G (p.Ala272Gly) rs1563075892
NM_000083.3(CLCN1):c.815C>T (p.Ala272Val) rs1563075892
NM_000083.3(CLCN1):c.81T>A (p.Phe27Leu)
NM_000083.3(CLCN1):c.825C>T (p.Val275=)
NM_000083.3(CLCN1):c.826G>T (p.Gly276Cys) rs765181341
NM_000083.3(CLCN1):c.829T>G (p.Cys277Gly) rs757109632
NM_000083.3(CLCN1):c.838G>A (p.Gly280Arg) rs80190110
NM_000083.3(CLCN1):c.844C>G (p.Pro282Ala) rs1586489432
NM_000083.3(CLCN1):c.845C>G (p.Pro282Arg)
NM_000083.3(CLCN1):c.847C>T (p.Leu283Phe) rs80356688
NM_000083.3(CLCN1):c.852A>G (p.Gly284=) rs1417532624
NM_000083.3(CLCN1):c.853+13C>A
NM_000083.3(CLCN1):c.853+13C>T
NM_000083.3(CLCN1):c.853+14C>A
NM_000083.3(CLCN1):c.853+14C>T
NM_000083.3(CLCN1):c.853+16C>G
NM_000083.3(CLCN1):c.853+17del
NM_000083.3(CLCN1):c.853+17dup
NM_000083.3(CLCN1):c.853+19C>A rs748877906
NM_000083.3(CLCN1):c.853+19C>T
NM_000083.3(CLCN1):c.853+23dup
NM_000083.3(CLCN1):c.853G>A (p.Gly285Arg)
NM_000083.3(CLCN1):c.854-17C>T
NM_000083.3(CLCN1):c.854-18A>G
NM_000083.3(CLCN1):c.854-3C>A
NM_000083.3(CLCN1):c.854-4G>A
NM_000083.3(CLCN1):c.854-9C>G
NM_000083.3(CLCN1):c.854G>T (p.Gly285Val)
NM_000083.3(CLCN1):c.857T>C (p.Val286Ala) rs80356689
NM_000083.3(CLCN1):c.859C>A (p.Leu287Ile)
NM_000083.3(CLCN1):c.860T>A (p.Leu287Gln) rs1266327660
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.3(CLCN1):c.870C>T (p.Ile290=)
NM_000083.3(CLCN1):c.873G>A (p.Glu291=)
NM_000083.3(CLCN1):c.878C>T (p.Thr293Ile) rs762943928
NM_000083.3(CLCN1):c.889T>G (p.Phe297Val) rs2116852202
NM_000083.3(CLCN1):c.893C>T (p.Ala298Val)
NM_000083.3(CLCN1):c.894T>C (p.Ala298=)
NM_000083.3(CLCN1):c.897T>C (p.Val299=)
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter) rs1554436419
NM_000083.3(CLCN1):c.902dup (p.Asn301fs)
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys) rs1563078716
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) rs1554436427
NM_000083.3(CLCN1):c.909dup (p.Arg304fs)
NM_000083.3(CLCN1):c.911G>A (p.Arg304Lys)
NM_000083.3(CLCN1):c.913G>A (p.Gly305Arg) rs1802702027
NM_000083.3(CLCN1):c.916T>C (p.Phe306Leu) rs1802702190
NM_000083.3(CLCN1):c.91_106del (p.Thr31fs)
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) rs766116662
NM_000083.3(CLCN1):c.923C>T (p.Ala308Val) rs1406554534
NM_000083.3(CLCN1):c.930G>A (p.Thr310=)
NM_000083.3(CLCN1):c.932T>G (p.Phe311Cys) rs1586496817
NM_000083.3(CLCN1):c.936C>T (p.Ser312=)
NM_000083.3(CLCN1):c.942_960del (p.Phe314fs)
NM_000083.3(CLCN1):c.944T>C (p.Val315Ala)
NM_000083.3(CLCN1):c.945G>T (p.Val315=)
NM_000083.3(CLCN1):c.949C>A (p.Arg317=) rs1337473924
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter) rs1337473924
NM_000083.3(CLCN1):c.950G>C (p.Arg317Pro) rs80356702
NM_000083.3(CLCN1):c.954G>A (p.Val318=)
NM_000083.3(CLCN1):c.954G>T (p.Val318=)
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu) rs780150093
NM_000083.3(CLCN1):c.963G>A (p.Val321=)
NM_000083.3(CLCN1):c.966G>A (p.Trp322Ter)
NM_000083.3(CLCN1):c.966G>C (p.Trp322Cys)
NM_000083.3(CLCN1):c.969C>T (p.Asn323=)
NM_000083.3(CLCN1):c.979+12G>T
NM_000083.3(CLCN1):c.979+20G>A
NM_000083.3(CLCN1):c.979+9G>A
NM_000083.3(CLCN1):c.980-10C>T
NM_000083.3(CLCN1):c.980-15C>A
NM_000083.3(CLCN1):c.980-16C>T
NM_000083.3(CLCN1):c.980-17G>T
NM_000083.3(CLCN1):c.980-18G>C
NM_000083.3(CLCN1):c.980-20C>G
NM_000083.3(CLCN1):c.980-20C>T
NM_000083.3(CLCN1):c.980-2A>G
NM_000083.3(CLCN1):c.980-3C>G rs1802714707
NM_000083.3(CLCN1):c.980-4A>G
NM_000083.3(CLCN1):c.980-5T>C
NM_000083.3(CLCN1):c.980-8T>C
NM_000083.3(CLCN1):c.984C>G (p.Thr328=)
NM_000083.3(CLCN1):c.984C>T (p.Thr328=)
NM_000083.3(CLCN1):c.984_989del (p.Ile329_Thr330del)
NM_000083.3(CLCN1):c.989dup (p.Ala331fs) rs1383055795
NM_000083.3(CLCN1):c.990T>C (p.Thr330=)
NM_000083.3(CLCN1):c.991G>A (p.Ala331Thr)
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)
NM_000083.3(CLCN1):c.991_992delinsCT (p.Ala331Leu) rs2116852875
NM_000083.3(CLCN1):c.992C>G (p.Ala331Gly)
NM_000083.3(CLCN1):c.993T>C (p.Ala331=) rs2116852879
NM_000083.3(CLCN1):c.99C>A (p.Tyr33Ter) rs138922145
NM_000083.3(CLCN1):c.9A>G (p.Gln3=)

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