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.2926C>T (p.Arg976Ter)
|
rs142539932
|
0.00070
|
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.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.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.*29C>A
|
rs202172391
|
0.00014
|
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.2258A>C (p.Gln753Pro)
|
rs112282456
|
0.00010
|
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val)
|
rs202119213
|
0.00009
|
NM_000083.3(CLCN1):c.262G>A (p.Val88Met)
|
rs147581794
|
0.00009
|
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val)
|
rs969430772
|
0.00009
|
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.1222C>G (p.Pro408Ala)
|
rs202019723
|
0.00006
|
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)
|
rs777685454
|
0.00006
|
NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys)
|
rs143025648
|
0.00006
|
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys)
|
rs767366093
|
0.00004
|
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg)
|
rs747895358
|
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.2848G>A (p.Glu950Lys)
|
rs201506176
|
0.00004
|
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)
|
rs762344462
|
0.00004
|
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.2437C>A (p.Pro813Thr)
|
rs139881658
|
0.00003
|
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)
|
rs150796358
|
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.1342G>A (p.Val448Met)
|
rs200371691
|
0.00002
|
NM_000083.3(CLCN1):c.1393G>A (p.Val465Ile)
|
rs139158852
|
0.00002
|
NM_000083.3(CLCN1):c.1723C>T (p.Pro575Ser)
|
rs766432255
|
0.00002
|
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val)
|
rs746346988
|
0.00002
|
NM_000083.3(CLCN1):c.1922A>G (p.Asp641Gly)
|
rs760693424
|
0.00002
|
NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys)
|
rs754581538
|
0.00002
|
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile)
|
rs777708543
|
0.00002
|
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe)
|
rs1554434802
|
0.00002
|
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser)
|
rs1682810737
|
0.00001
|
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro)
|
rs1023099235
|
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.1366G>A (p.Val456Ile)
|
rs922819878
|
0.00001
|
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu)
|
rs149892539
|
0.00001
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
0.00001
|
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile)
|
rs202120426
|
0.00001
|
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu)
|
rs772430525
|
0.00001
|
NM_000083.3(CLCN1):c.2233A>G (p.Asn745Asp)
|
rs745586869
|
0.00001
|
NM_000083.3(CLCN1):c.2284+3G>A
|
rs755127390
|
0.00001
|
NM_000083.3(CLCN1):c.2365-3T>C
|
rs770158484
|
0.00001
|
NM_000083.3(CLCN1):c.2533G>C (p.Gly845Arg)
|
rs755433272
|
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.2800C>T (p.Pro934Ser)
|
rs1168501752
|
0.00001
|
NM_000083.3(CLCN1):c.289T>C (p.Ser97Pro)
|
rs201591839
|
0.00001
|
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr)
|
rs140726900
|
0.00001
|
NM_000083.3(CLCN1):c.496A>T (p.Thr166Ser)
|
rs1418010822
|
0.00001
|
NM_000083.3(CLCN1):c.563-8G>A
|
rs763640926
|
0.00001
|
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys)
|
rs80356686
|
0.00001
|
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile)
|
rs769612798
|
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.959C>T (p.Ala320Val)
|
rs1478129213
|
0.00001
|
NM_000083.3(CLCN1):c.-59C>A
|
|
|
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala)
|
rs2116852900
|
|
NM_000083.3(CLCN1):c.1016T>C (p.Met339Thr)
|
|
|
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
|
|
|
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala)
|
rs1085307989
|
|
NM_000083.3(CLCN1):c.1108C>T (p.Arg370Cys)
|
|
|
NM_000083.3(CLCN1):c.1109G>A (p.Arg370His)
|
|
|
NM_000083.3(CLCN1):c.1129C>G (p.Arg377Gly)
|
|
|
NM_000083.3(CLCN1):c.1166+5G>A
|
rs1586497958
|
|
NM_000083.3(CLCN1):c.1190T>C (p.Val397Ala)
|
rs368958317
|
|
NM_000083.3(CLCN1):c.1208C>T (p.Ser403Leu)
|
|
|
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)
|
rs756199349
|
|
NM_000083.3(CLCN1):c.1236A>G (p.Gln412=)
|
rs2116854694
|
|
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)
|
rs780834658
|
|
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg)
|
rs1563080014
|
|
NM_000083.3(CLCN1):c.1330G>A (p.Gly444Ser)
|
|
|
NM_000083.3(CLCN1):c.1334A>G (p.Gln445Arg)
|
|
|
NM_000083.3(CLCN1):c.1348A>T (p.Ile450Phe)
|
rs2116855321
|
|
NM_000083.3(CLCN1):c.1360G>A (p.Val454Ile)
|
|
|
NM_000083.3(CLCN1):c.140G>A (p.Arg47Gln)
|
|
|
NM_000083.3(CLCN1):c.1416C>A (p.Ile472=)
|
rs372034290
|
|
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu)
|
rs1380726444
|
|
NM_000083.3(CLCN1):c.1454T>G (p.Met485Arg)
|
rs1586507590
|
|
NM_000083.3(CLCN1):c.1471+5_1471+11del
|
rs2116864882
|
|
NM_000083.3(CLCN1):c.1474G>A (p.Ala492Thr)
|
rs1803021137
|
|
NM_000083.3(CLCN1):c.1550A>T (p.Tyr517Phe)
|
|
|
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.1583-13T>A
|
|
|
NM_000083.3(CLCN1):c.1591G>A (p.Ala531Thr)
|
|
|
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.1652G>A (p.Gly551Asp)
|
rs1563084603
|
|
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
NM_000083.3(CLCN1):c.1727C>G (p.Ser576Cys)
|
|
|
NM_000083.3(CLCN1):c.1730T>G (p.Leu577Arg)
|
rs2116373216
|
|
NM_000083.3(CLCN1):c.1857T>C (p.Ser619=)
|
|
|
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
|
|
|
NM_000083.3(CLCN1):c.1907C>A (p.Thr636Asn)
|
rs1803111177
|
|
NM_000083.3(CLCN1):c.1930+3C>G
|
|
|
NM_000083.3(CLCN1):c.1930G>A (p.Asp644Asn)
|
rs1554438576
|
|
NM_000083.3(CLCN1):c.194A>G (p.His65Arg)
|
|
|
NM_000083.3(CLCN1):c.2221C>G (p.Pro741Ala)
|
|
|
NM_000083.3(CLCN1):c.2404-9G>A
|
|
|
NM_000083.3(CLCN1):c.241A>G (p.Lys81Glu)
|
|
|
NM_000083.3(CLCN1):c.2461_2464delinsCTCC (p.Ile821_Asp822delinsLeuHis)
|
rs2116396889
|
|
NM_000083.3(CLCN1):c.2462T>C (p.Ile821Thr)
|
|
|
NM_000083.3(CLCN1):c.2471C>A (p.Ser824Tyr)
|
rs1803362038
|
|
NM_000083.3(CLCN1):c.2492A>G (p.Gln831Arg)
|
|
|
NM_000083.3(CLCN1):c.2530_2532del (p.Leu844del)
|
rs1563090152
|
|
NM_000083.3(CLCN1):c.2555C>T (p.Thr852Ile)
|
|
|
NM_000083.3(CLCN1):c.260_261delinsTT (p.Thr87Ile)
|
rs1064796042
|
|
NM_000083.3(CLCN1):c.2621C>G (p.Thr874Ser)
|
|
|
NM_000083.3(CLCN1):c.2657G>C (p.Ser886Thr)
|
|
|
NM_000083.3(CLCN1):c.2669C>T (p.Thr890Met)
|
rs756135571
|
|
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.2789del (p.Pro930fs)
|
rs749552056
|
|
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr)
|
rs1448219970
|
|
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.2864A>G (p.Glu955Gly)
|
|
|
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)
|
|
|
NM_000083.3(CLCN1):c.2882G>A (p.Gly961Glu)
|
rs1803422217
|
|
NM_000083.3(CLCN1):c.2933_2934del (p.Thr978fs)
|
rs778865730
|
|
NM_000083.3(CLCN1):c.2938G>A (p.Glu980Lys)
|
|
|
NM_000083.3(CLCN1):c.2940G>A (p.Glu980=)
|
|
|
NM_000083.3(CLCN1):c.2959A>C (p.Ile987Leu)
|
|
|
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn)
|
rs1204927357
|
|
NM_000083.3(CLCN1):c.364G>C (p.Val122Leu)
|
|
|
NM_000083.3(CLCN1):c.392T>A (p.Val131Asp)
|
rs769391461
|
|
NM_000083.3(CLCN1):c.406G>T (p.Asp136Tyr)
|
|
|
NM_000083.3(CLCN1):c.419C>A (p.Ala140Asp)
|
rs1435631505
|
|
NM_000083.3(CLCN1):c.423A>C (p.Lys141Asn)
|
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe)
|
rs992335710
|
|
NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp)
|
rs574259784
|
|
NM_000083.3(CLCN1):c.562G>C (p.Gly188Arg)
|
rs1302735361
|
|
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.596G>C (p.Arg199Pro)
|
|
|
NM_000083.3(CLCN1):c.632C>G (p.Ala211Gly)
|
|
|
NM_000083.3(CLCN1):c.638T>G (p.Val213Gly)
|
|
|
NM_000083.3(CLCN1):c.661G>A (p.Ala221Thr)
|
|
|
NM_000083.3(CLCN1):c.662C>A (p.Ala221Glu)
|
|
|
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn)
|
rs1802446540
|
|
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu)
|
rs1586486170
|
|
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.706G>C (p.Val236Leu)
|
rs776173406
|
|
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile)
|
rs754934082
|
|
NM_000083.3(CLCN1):c.757T>C (p.Phe253Leu)
|
|
|
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.815C>T (p.Ala272Val)
|
rs1563075892
|
|
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.852A>G (p.Gly284=)
|
rs1417532624
|
|
NM_000083.3(CLCN1):c.853+5G>A
|
|
|
NM_000083.3(CLCN1):c.881C>T (p.Ser294Phe)
|
|
|
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.972G>C (p.Lys324Asn)
|
|
|
NM_000083.3(CLCN1):c.980-3C>G
|
rs1802714707
|
|
NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile)
|
rs780421370
|
|
NM_000083.3(CLCN1):c.987C>G (p.Ile329Met)
|
rs140664749
|
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