NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)
|
rs121912799
|
0.00028
|
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)
|
rs201509501
|
0.00014
|
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile)
|
rs777685454
|
0.00006
|
NM_000083.3(CLCN1):c.1167-10T>C
|
rs543120965
|
0.00004
|
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met)
|
rs749205522
|
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.726T>A (p.Cys242Ter)
|
rs757481015
|
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.1444G>C (p.Gly482Arg)
|
rs746125212
|
0.00003
|
NM_000083.3(CLCN1):c.2596-1G>A
|
rs771721648
|
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.1667T>A (p.Ile556Asn)
|
rs80356697
|
0.00002
|
NM_000083.3(CLCN1):c.1872del (p.Glu624fs)
|
rs1424799320
|
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.892G>A (p.Ala298Thr)
|
rs764100025
|
0.00002
|
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)
|
rs774396430
|
0.00002
|
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.1243G>C (p.Ala415Pro)
|
rs1023099235
|
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.1388T>G (p.Phe463Cys)
|
rs1064796557
|
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.1444G>A (p.Gly482Arg)
|
rs746125212
|
0.00001
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)
|
rs80356696
|
0.00001
|
NM_000083.3(CLCN1):c.1663C>T (p.His555Tyr)
|
rs201850090
|
0.00001
|
NM_000083.3(CLCN1):c.1930+1G>A
|
rs771002652
|
0.00001
|
NM_000083.3(CLCN1):c.2172G>T (p.Glu724Asp)
|
rs753308829
|
0.00001
|
NM_000083.3(CLCN1):c.2403+5G>A
|
rs1474520642
|
0.00001
|
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)
|
rs748639603
|
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.763G>T (p.Gly255Trp)
|
rs746691295
|
0.00001
|
NM_000083.3(CLCN1):c.774G>A (p.Glu258=)
|
rs770605959
|
0.00001
|
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr)
|
rs1475869303
|
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.937G>A (p.Ala313Thr)
|
rs80356692
|
0.00001
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
NM_000083.2(CLCN1):c.698delG
|
rs1423567292
|
|
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)
|
rs759761559
|
|
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu)
|
rs1554436510
|
|
NM_000083.3(CLCN1):c.1044_1056del (p.Ala350fs)
|
|
|
NM_000083.3(CLCN1):c.1064+1G>A
|
|
|
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala)
|
rs1085307989
|
|
NM_000083.3(CLCN1):c.1099del (p.Tyr367fs)
|
|
|
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter)
|
rs1554436799
|
|
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)
|
rs756199349
|
|
NM_000083.3(CLCN1):c.1252-1G>T
|
|
|
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)
|
rs780834658
|
|
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.1393G>T (p.Val465Phe)
|
rs139158852
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3(CLCN1):c.1438C>T (p.Pro480Ser)
|
rs80356695
|
|
NM_000083.3(CLCN1):c.1444_1449del (p.Gly482_Gly483del)
|
rs1554438053
|
|
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>A (p.Met485Lys)
|
|
|
NM_000083.3(CLCN1):c.1471+2del
|
rs2116864878
|
|
NM_000083.3(CLCN1):c.1484G>A (p.Gly495Glu)
|
|
|
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp)
|
rs1460714146
|
|
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.1582+1G>A
|
|
|
NM_000083.3(CLCN1):c.1606G>C (p.Val536Leu)
|
|
|
NM_000083.3(CLCN1):c.1607T>C (p.Val536Ala)
|
|
|
NM_000083.3(CLCN1):c.1615A>G (p.Thr539Ala)
|
rs1474851853
|
|
NM_000083.3(CLCN1):c.1616_1617del (p.Thr539fs)
|
rs1554438432
|
|
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg)
|
rs762754992
|
|
NM_000083.3(CLCN1):c.1662_1663dup (p.His555fs)
|
rs1554438441
|
|
NM_000083.3(CLCN1):c.1666A>T (p.Ile556Phe)
|
|
|
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.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
NM_000083.3(CLCN1):c.1699A>C (p.Asn567His)
|
|
|
NM_000083.3(CLCN1):c.1796+1G>A
|
|
|
NM_000083.3(CLCN1):c.1796G>A (p.Ser599Asn)
|
rs1554438471
|
|
NM_000083.3(CLCN1):c.181-2A>G
|
rs1802376231
|
|
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
|
|
|
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro)
|
rs1009716258
|
|
NM_000083.3(CLCN1):c.1909_1910del (p.Leu637fs)
|
rs1237554305
|
|
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly)
|
rs1803111906
|
|
NM_000083.3(CLCN1):c.2171A>C (p.Glu724Ala)
|
rs1803225186
|
|
NM_000083.3(CLCN1):c.2284+1G>A
|
|
|
NM_000083.3(CLCN1):c.2284+1G>T
|
|
|
NM_000083.3(CLCN1):c.2365-1G>A
|
|
|
NM_000083.3(CLCN1):c.2365-1G>T
|
|
|
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter)
|
rs1131691551
|
|
NM_000083.3(CLCN1):c.2403+1G>A
|
|
|
NM_000083.3(CLCN1):c.2416GAGCAG[3] (p.Gln809_Leu810insGluGln)
|
|
|
NM_000083.3(CLCN1):c.2508+1G>A
|
|
|
NM_000083.3(CLCN1):c.2508+2T>A
|
rs992259659
|
|
NM_000083.3(CLCN1):c.2509-2A>C
|
|
|
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro)
|
rs1563090141
|
|
NM_000083.3(CLCN1):c.2550C>A (p.Tyr850Ter)
|
|
|
NM_000083.3(CLCN1):c.2632G>A (p.Val878Met)
|
rs1803407825
|
|
NM_000083.3(CLCN1):c.2789del (p.Pro930fs)
|
rs749552056
|
|
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs)
|
rs755176513
|
|
NM_000083.3(CLCN1):c.350A>G (p.Asp117Gly)
|
|
|
NM_000083.3(CLCN1):c.378dup (p.Leu127fs)
|
rs1320040467
|
|
NM_000083.3(CLCN1):c.382A>G (p.Met128Val)
|
rs80356699
|
|
NM_000083.3(CLCN1):c.395G>C (p.Ser132Thr)
|
rs775224495
|
|
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter)
|
rs1586484463
|
|
NM_000083.3(CLCN1):c.433+1G>A
|
|
|
NM_000083.3(CLCN1):c.434-1G>A
|
|
|
NM_000083.3(CLCN1):c.434-1_437del
|
rs1563074191
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000083.3(CLCN1):c.442T>C (p.Trp148Arg)
|
rs1409574232
|
|
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.490T>C (p.Trp164Arg)
|
|
|
NM_000083.3(CLCN1):c.494T>G (p.Val165Gly)
|
rs1586485438
|
|
NM_000083.3(CLCN1):c.562+1G>C
|
rs2116837885
|
|
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.569G>T (p.Gly190Val)
|
rs746401512
|
|
NM_000083.3(CLCN1):c.571A>T (p.Ile191Phe)
|
rs2116838394
|
|
NM_000083.3(CLCN1):c.578A>C (p.Glu193Ala)
|
|
|
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro)
|
rs1347382107
|
|
NM_000083.3(CLCN1):c.603dup (p.Val202fs)
|
|
|
NM_000083.3(CLCN1):c.61dup (p.Gln21fs)
|
|
|
NM_000083.3(CLCN1):c.644A>G (p.Lys215Arg)
|
rs2116838620
|
|
NM_000083.3(CLCN1):c.685G>A (p.Val229Met)
|
rs761601545
|
|
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu)
|
rs1586486170
|
|
NM_000083.3(CLCN1):c.693A>C (p.Lys231Asn)
|
|
|
NM_000083.3(CLCN1):c.697-1G>C
|
rs773025750
|
|
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)
|
rs139039122
|
|
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.762C>G (p.Cys254Trp)
|
rs772027125
|
|
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg)
|
rs746691295
|
|
NM_000083.3(CLCN1):c.774+3A>C
|
|
|
NM_000083.3(CLCN1):c.791C>T (p.Ser264Phe)
|
rs2116842824
|
|
NM_000083.3(CLCN1):c.809G>T (p.Gly270Val)
|
|
|
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg)
|
rs1554435334
|
|
NM_000083.3(CLCN1):c.829T>G (p.Cys277Gly)
|
rs757109632
|
|
NM_000083.3(CLCN1):c.847C>T (p.Leu283Phe)
|
rs80356688
|
|
NM_000083.3(CLCN1):c.853G>A (p.Gly285Arg)
|
|
|
NM_000083.3(CLCN1):c.859C>A (p.Leu287Ile)
|
|
|
NM_000083.3(CLCN1):c.869T>C (p.Ile290Thr)
|
|
|
NM_000083.3(CLCN1):c.871G>T (p.Glu291Ter)
|
|
|
NM_000083.3(CLCN1):c.891del (p.Phe297fs)
|
|
|
NM_000083.3(CLCN1):c.893C>T (p.Ala298Val)
|
|
|
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.913G>A (p.Gly305Arg)
|
rs1802702027
|
|
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del)
|
rs766116662
|
|
NM_000083.3(CLCN1):c.950G>C (p.Arg317Pro)
|
rs80356702
|
|
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu)
|
rs780150093
|
|
NM_000083.3(CLCN1):c.980-2A>G
|
|
|
NM_000083.3(CLCN1):c.980-3C>G
|
rs1802714707
|
|
NM_000083.3(CLCN1):c.983C>A (p.Thr328Asn)
|
rs780421370
|
|
NM_000083.3(CLCN1):c.991G>A (p.Ala331Thr)
|
|
|
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)
|
|
|
NM_000083.3(CLCN1):c.[1444G>A];[1448G>A]
|
|
|