NM_000083.3(CLCN1):c.1402-9C>T
|
rs2272252
|
0.44267
|
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.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.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.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.2834G>T (p.Gly945Val)
|
rs139659129
|
0.00091
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile)
|
rs139757692
|
0.00060
|
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser)
|
rs144612641
|
0.00054
|
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)
|
rs146457619
|
0.00039
|
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.900G>A (p.Arg300=)
|
rs149578972
|
0.00022
|
NM_000083.3(CLCN1):c.180+3A>T
|
rs202217420
|
0.00019
|
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)
|
rs185031797
|
0.00015
|
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr)
|
rs149316679
|
0.00013
|
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val)
|
rs202119213
|
0.00009
|
NM_000083.3(CLCN1):c.1605C>T (p.Ala535=)
|
rs200676193
|
0.00009
|
NM_000083.3(CLCN1):c.2403+4A>C
|
rs372826693
|
0.00009
|
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)
|
rs777685454
|
0.00006
|
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=)
|
rs775384507
|
0.00005
|
NM_000083.3(CLCN1):c.1167-10T>C
|
rs543120965
|
0.00004
|
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg)
|
rs747895358
|
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.412G>A (p.Val138Ile)
|
rs762344462
|
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.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly)
|
rs1441046956
|
0.00003
|
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys)
|
rs146469288
|
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.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.774+1G>A
|
rs776073429
|
0.00002
|
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met)
|
rs80356687
|
0.00002
|
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr)
|
rs764100025
|
0.00002
|
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)
|
rs774396430
|
0.00002
|
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser)
|
rs1682810737
|
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.1129C>T (p.Arg377Ter)
|
rs201714423
|
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.1399A>G (p.Lys467Glu)
|
rs149892539
|
0.00001
|
NM_000083.3(CLCN1):c.1401+1G>T
|
rs769861892
|
0.00001
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
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.166G>A (p.Val56Ile)
|
rs202120426
|
0.00001
|
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter)
|
rs201894078
|
0.00001
|
NM_000083.3(CLCN1):c.1930+1G>A
|
rs771002652
|
0.00001
|
NM_000083.3(CLCN1):c.2284+3G>A
|
rs755127390
|
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.2663G>A (p.Arg888Gln)
|
rs771890096
|
0.00001
|
NM_000083.3(CLCN1):c.2789C>A (p.Pro930His)
|
rs147068247
|
0.00001
|
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)
|
rs748639603
|
0.00001
|
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro)
|
rs1554434814
|
0.00001
|
NM_000083.3(CLCN1):c.563-8G>A
|
rs763640926
|
0.00001
|
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val)
|
rs80356685
|
0.00001
|
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp)
|
rs746691295
|
0.00001
|
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile)
|
rs759703560
|
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.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_000083.2(CLCN1):c.698delG
|
rs1423567292
|
|
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala)
|
rs2116852900
|
|
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
|
|
|
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu)
|
rs1554436573
|
|
NM_000083.3(CLCN1):c.1129C>G (p.Arg377Gly)
|
|
|
NM_000083.3(CLCN1):c.1166+5G>A
|
rs1586497958
|
|
NM_000083.3(CLCN1):c.1167-3C>T
|
rs1308054644
|
|
NM_000083.3(CLCN1):c.1183_1187del (p.Gly395fs)
|
|
|
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs)
|
rs763633152
|
|
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)
|
rs780834658
|
|
NM_000083.3(CLCN1):c.1264G>T (p.Glu422Ter)
|
|
|
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg)
|
rs1563080014
|
|
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg)
|
rs1027814542
|
|
NM_000083.3(CLCN1):c.1405T>C (p.Trp469Arg)
|
rs759207718
|
|
NM_000083.3(CLCN1):c.1416C>A (p.Ile472=)
|
rs372034290
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu)
|
rs1380726444
|
|
NM_000083.3(CLCN1):c.1450T>C (p.Phe484Leu)
|
rs1312002847
|
|
NM_000083.3(CLCN1):c.1454T>G (p.Met485Arg)
|
rs1586507590
|
|
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)
|
rs1460714146
|
|
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys)
|
rs1563083476
|
|
NM_000083.3(CLCN1):c.1616_1617del (p.Thr539fs)
|
rs1554438432
|
|
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met)
|
rs1554438433
|
|
NM_000083.3(CLCN1):c.1652G>A (p.Gly551Asp)
|
rs1563084603
|
|
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
|
|
|
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter)
|
rs1803112361
|
|
NM_000083.3(CLCN1):c.2404-9G>A
|
|
|
NM_000083.3(CLCN1):c.2416GAGCAG[3] (p.Gln809_Leu810insGluGln)
|
|
|
NM_000083.3(CLCN1):c.2461_2463delinsCTC (p.Ile821Leu)
|
rs1554439830
|
|
NM_000083.3(CLCN1):c.2461_2464delinsCTCC (p.Ile821_Asp822delinsLeuHis)
|
rs2116396889
|
|
NM_000083.3(CLCN1):c.2464G>C (p.Asp822His)
|
rs143146088
|
|
NM_000083.3(CLCN1):c.2471C>A (p.Ser824Tyr)
|
rs1803362038
|
|
NM_000083.3(CLCN1):c.2530_2532del (p.Leu844del)
|
rs1563090152
|
|
NM_000083.3(CLCN1):c.2694G>T (p.Gly898=)
|
rs1803411706
|
|
NM_000083.3(CLCN1):c.2782G>A (p.Glu928Lys)
|
rs1803416147
|
|
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val)
|
rs1586483178
|
|
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs)
|
rs755176513
|
|
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)
|
|
|
NM_000083.3(CLCN1):c.2959A>C (p.Ile987Leu)
|
|
|
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn)
|
rs1204927357
|
|
NM_000083.3(CLCN1):c.392T>A (p.Val131Asp)
|
rs769391461
|
|
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter)
|
rs1586484463
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe)
|
rs992335710
|
|
NM_000083.3(CLCN1):c.563G>C (p.Gly188Ala)
|
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.586A>T (p.Thr196Ser)
|
rs1802442547
|
|
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro)
|
rs1347382107
|
|
NM_000083.3(CLCN1):c.661G>A (p.Ala221Thr)
|
|
|
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn)
|
rs1802446540
|
|
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)
|
rs80356700
|
|
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)
|
rs139039122
|
|
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu)
|
rs1554435319
|
|
NM_000083.3(CLCN1):c.799C>T (p.Leu267=)
|
rs1563075864
|
|
NM_000083.3(CLCN1):c.809G>A (p.Gly270Asp)
|
rs1490537212
|
|
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg)
|
rs1554435334
|
|
NM_000083.3(CLCN1):c.818T>C (p.Val273Ala)
|
rs1586489367
|
|
NM_000083.3(CLCN1):c.824T>C (p.Val275Ala)
|
|
|
NM_000083.3(CLCN1):c.825C>T (p.Val275=)
|
|
|
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)
|
rs80356690
|
|
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter)
|
rs1554436419
|
|
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys)
|
rs1563078716
|
|
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del)
|
rs766116662
|
|
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter)
|
rs1337473924
|
|
NM_000083.3(CLCN1):c.987C>G (p.Ile329Met)
|
rs140664749
|
|