NM_001287.6(CLCN7):c.*1389A>C
|
rs710900
|
0.90699
|
NM_001287.6(CLCN7):c.*887C>T
|
rs6600146
|
0.85737
|
NM_001287.6(CLCN7):c.*886C>T
|
rs1050834
|
0.85735
|
NM_001287.6(CLCN7):c.485-39A>C
|
rs2072950
|
0.73095
|
NM_001287.6(CLCN7):c.*1626G>C
|
rs8767
|
0.60777
|
NM_001287.6(CLCN7):c.285+52C>A
|
rs2744994
|
0.60500
|
NM_001287.6(CLCN7):c.1884-35T>C
|
rs12597739
|
0.53608
|
NM_001287.6(CLCN7):c.1170A>T (p.Ala390=)
|
rs2235579
|
0.51407
|
NM_001287.6(CLCN7):c.*735C>T
|
rs2294542
|
0.51156
|
NM_001287.6(CLCN7):c.981+133G>A
|
rs7190701
|
0.48855
|
NM_001287.6(CLCN7):c.2251-50G>A
|
rs12599176
|
0.41216
|
NM_001287.6(CLCN7):c.*1332C>T
|
rs941439
|
0.37181
|
NM_001287.6(CLCN7):c.1618-49G>A
|
rs742408
|
0.36776
|
NM_001287.6(CLCN7):c.676-85G>A
|
rs8061743
|
0.20005
|
NM_001287.6(CLCN7):c.660C>T (p.His220=)
|
rs12923538
|
0.14578
|
NM_001287.6(CLCN7):c.485-10T>C
|
rs35280276
|
0.13624
|
NM_001287.6(CLCN7):c.*627A>G
|
rs10903009
|
0.12292
|
NM_001287.6(CLCN7):c.*19A>G
|
rs11860968
|
0.11981
|
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)
|
rs12926089
|
0.11417
|
NM_001287.6(CLCN7):c.1798-8G>A
|
rs35915213
|
0.10339
|
NM_001287.6(CLCN7):c.1245T>C (p.Ile415=)
|
rs12926669
|
0.09695
|
NM_001287.6(CLCN7):c.1128G>A (p.Pro376=)
|
rs12935737
|
0.06897
|
NM_001287.6(CLCN7):c.1614G>A (p.Ala538=)
|
rs117461525
|
0.06889
|
NM_001287.6(CLCN7):c.*1157C>T
|
rs9921
|
0.06755
|
NM_001287.6(CLCN7):c.1798-10C>T
|
rs35939214
|
0.03622
|
NM_001287.6(CLCN7):c.900G>A (p.Ala300=)
|
rs41286695
|
0.03405
|
NM_001287.6(CLCN7):c.*1176C>T
|
rs150325021
|
0.03316
|
NM_001287.6(CLCN7):c.*990C>T
|
rs114884549
|
0.03040
|
NM_001287.6(CLCN7):c.-20G>C
|
rs112055095
|
0.02459
|
NM_001287.6(CLCN7):c.801G>A (p.Thr267=)
|
rs61743590
|
0.01670
|
NM_001287.6(CLCN7):c.921G>A (p.Gly307=)
|
rs114169064
|
0.01310
|
NM_001287.6(CLCN7):c.696C>T (p.Ser232=)
|
rs117183989
|
0.01006
|
NM_001287.6(CLCN7):c.*496T>C
|
rs60516531
|
0.00800
|
NM_001287.6(CLCN7):c.*1645G>C
|
rs74002247
|
0.00770
|
NM_001287.6(CLCN7):c.1617+13G>A
|
rs58998621
|
0.00586
|
NM_001287.6(CLCN7):c.*530G>A
|
rs188481235
|
0.00519
|
NM_001287.6(CLCN7):c.1961C>T (p.Thr654Met)
|
rs114827619
|
0.00491
|
NM_001287.6(CLCN7):c.675+10C>T
|
rs116495246
|
0.00471
|
NM_001287.6(CLCN7):c.-32G>A
|
rs141324197
|
0.00462
|
NM_001287.6(CLCN7):c.1626G>T (p.Ala542=)
|
rs147838517
|
0.00437
|
NM_001287.6(CLCN7):c.1857G>A (p.Pro619=)
|
rs139826207
|
0.00342
|
NM_001287.6(CLCN7):c.*1572C>T
|
rs539134149
|
0.00264
|
NM_001287.6(CLCN7):c.*241G>A
|
rs559965660
|
0.00198
|
NM_001287.6(CLCN7):c.1354-7C>T
|
rs41286691
|
0.00170
|
NM_001287.6(CLCN7):c.*262G>A
|
rs572569244
|
0.00107
|
NM_001287.6(CLCN7):c.*1452G>A
|
rs578092313
|
0.00080
|
NM_001287.6(CLCN7):c.*1026C>A
|
rs761591980
|
0.00071
|
NM_001287.6(CLCN7):c.1701C>T (p.Thr567=)
|
rs143025396
|
0.00045
|
NM_001287.6(CLCN7):c.*1180G>C
|
rs370167870
|
0.00036
|
NM_001287.6(CLCN7):c.*89C>T
|
rs372232215
|
0.00035
|
NM_001287.6(CLCN7):c.*1248G>A
|
rs371394735
|
0.00034
|
NM_001287.6(CLCN7):c.2154C>T (p.Phe718=)
|
rs145775350
|
0.00034
|
NM_001287.6(CLCN7):c.*1297T>C
|
rs556488187
|
0.00032
|
NM_001287.6(CLCN7):c.2331+12C>T
|
rs371977822
|
0.00031
|
NM_001287.6(CLCN7):c.*1368G>A
|
rs376131222
|
0.00025
|
NM_001287.6(CLCN7):c.212C>T (p.Pro71Leu)
|
rs145267254
|
0.00025
|
NM_001287.6(CLCN7):c.1098+11C>G
|
rs202234120
|
0.00023
|
NM_001287.6(CLCN7):c.411G>A (p.Thr137=)
|
rs139649449
|
0.00022
|
NM_001287.6(CLCN7):c.*1685G>A
|
rs376387077
|
0.00021
|
NM_001287.6(CLCN7):c.*388C>T
|
rs745852264
|
0.00020
|
NM_001287.6(CLCN7):c.558C>T (p.Phe186=)
|
rs147280414
|
0.00019
|
NM_001287.6(CLCN7):c.*543C>T
|
rs542386664
|
0.00017
|
NM_001287.6(CLCN7):c.*996C>T
|
rs1018535341
|
0.00017
|
NM_001287.6(CLCN7):c.*130G>A
|
rs561217125
|
0.00016
|
NM_001287.6(CLCN7):c.*1189G>A
|
rs886051691
|
0.00014
|
NM_001287.6(CLCN7):c.*1667C>T
|
rs780617974
|
0.00014
|
NM_001287.6(CLCN7):c.2110C>T (p.Arg704Trp)
|
rs375281048
|
0.00014
|
NM_001287.6(CLCN7):c.350C>T (p.Thr117Met)
|
rs201003681
|
0.00014
|
NM_001287.6(CLCN7):c.*9C>T
|
rs773825294
|
0.00013
|
NM_001287.6(CLCN7):c.286-9G>T
|
rs200321142
|
0.00013
|
NM_001287.6(CLCN7):c.*1421G>C
|
rs886051689
|
0.00012
|
NM_001287.6(CLCN7):c.*228C>T
|
rs143364973
|
0.00012
|
NM_001287.6(CLCN7):c.1272G>A (p.Thr424=)
|
rs145286036
|
0.00012
|
NM_001287.6(CLCN7):c.2214C>T (p.Ser738=)
|
rs531105528
|
0.00012
|
NM_001287.6(CLCN7):c.*1403A>C
|
rs886051690
|
0.00011
|
NM_001287.6(CLCN7):c.2415G>A (p.Thr805=)
|
rs202080270
|
0.00011
|
NM_001287.6(CLCN7):c.*510G>C
|
rs527600278
|
0.00010
|
NM_001287.6(CLCN7):c.2073+4C>T
|
rs768190489
|
0.00010
|
NM_001287.6(CLCN7):c.521T>C (p.Phe174Ser)
|
rs752298744
|
0.00009
|
NM_001287.6(CLCN7):c.*1607G>T
|
rs941409246
|
0.00008
|
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln)
|
rs541169535
|
0.00007
|
NM_001287.6(CLCN7):c.1098+15C>T
|
rs760916017
|
0.00006
|
NM_001287.6(CLCN7):c.1884-10C>A
|
rs753459440
|
0.00006
|
NM_001287.6(CLCN7):c.1884-6C>T
|
rs570339629
|
0.00006
|
NM_001287.6(CLCN7):c.2402C>T (p.Ser801Leu)
|
rs184833329
|
0.00006
|
NM_001287.6(CLCN7):c.286-10C>T
|
rs376717256
|
0.00006
|
NM_001287.6(CLCN7):c.351+14C>T
|
rs886051701
|
0.00006
|
NM_001287.6(CLCN7):c.595-3C>T
|
rs372809649
|
0.00006
|
NM_001287.6(CLCN7):c.*1573G>A
|
rs890063151
|
0.00004
|
NM_001287.6(CLCN7):c.*216C>T
|
rs528735755
|
0.00004
|
NM_001287.6(CLCN7):c.1038C>T (p.His346=)
|
rs200937692
|
0.00004
|
NM_001287.6(CLCN7):c.1226G>A (p.Arg409Gln)
|
rs780959736
|
0.00004
|
NM_001287.6(CLCN7):c.1307G>A (p.Arg436Gln)
|
rs553904081
|
0.00004
|
NM_001287.6(CLCN7):c.1986C>T (p.Pro662=)
|
rs374264233
|
0.00004
|
NM_001287.6(CLCN7):c.564C>T (p.Leu188=)
|
rs781074115
|
0.00004
|
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)
|
rs760956030
|
0.00004
|
NM_001287.6(CLCN7):c.871G>A (p.Ala291Thr)
|
rs923808258
|
0.00004
|
NM_001287.6(CLCN7):c.*1017C>A
|
rs1430382276
|
0.00003
|
NM_001287.6(CLCN7):c.*1293G>A
|
rs529027139
|
0.00003
|
NM_001287.6(CLCN7):c.*1491C>T
|
rs886051688
|
0.00003
|
NM_001287.6(CLCN7):c.*614G>A
|
rs886051694
|
0.00003
|
NM_001287.6(CLCN7):c.1138G>A (p.Ala380Thr)
|
rs553977226
|
0.00003
|
NM_001287.6(CLCN7):c.697G>A (p.Gly233Ser)
|
rs774749842
|
0.00003
|
NM_001287.6(CLCN7):c.729C>T (p.Ala243=)
|
rs542484303
|
0.00003
|
NM_001287.6(CLCN7):c.777C>T (p.Ala259=)
|
rs746128123
|
0.00003
|
NM_001287.6(CLCN7):c.*1289G>A
|
rs2038618955
|
0.00002
|
NM_001287.6(CLCN7):c.*135G>A
|
rs1249374686
|
0.00002
|
NM_001287.6(CLCN7):c.*355C>T
|
rs886051696
|
0.00002
|
NM_001287.6(CLCN7):c.*379C>T
|
rs753373584
|
0.00002
|
NM_001287.6(CLCN7):c.*396G>A
|
rs149057560
|
0.00002
|
NM_001287.6(CLCN7):c.*57C>T
|
rs886051697
|
0.00002
|
NM_001287.6(CLCN7):c.1135A>G (p.Ile379Val)
|
rs768971657
|
0.00002
|
NM_001287.6(CLCN7):c.285+7G>A
|
rs372024516
|
0.00002
|
NM_001287.6(CLCN7):c.286-7C>A
|
rs1191046309
|
0.00002
|
NM_001287.6(CLCN7):c.351+12G>A
|
rs371035809
|
0.00002
|
NM_001287.6(CLCN7):c.*1085G>A
|
rs1174585279
|
0.00001
|
NM_001287.6(CLCN7):c.*1330C>T
|
rs2038617678
|
0.00001
|
NM_001287.6(CLCN7):c.*1589G>C
|
rs532736933
|
0.00001
|
NM_001287.6(CLCN7):c.*24C>T
|
rs1361452118
|
0.00001
|
NM_001287.6(CLCN7):c.*671T>C
|
rs1427445361
|
0.00001
|
NM_001287.6(CLCN7):c.1207C>T (p.Arg403Ter)
|
rs200789982
|
0.00001
|
NM_001287.6(CLCN7):c.1332C>T (p.Gly444=)
|
rs749075927
|
0.00001
|
NM_001287.6(CLCN7):c.1524G>A (p.Thr508=)
|
rs150009847
|
0.00001
|
NM_001287.6(CLCN7):c.1561G>A (p.Gly521Arg)
|
rs368190250
|
0.00001
|
NM_001287.6(CLCN7):c.1681C>T (p.Arg561Trp)
|
rs2038701489
|
0.00001
|
NM_001287.6(CLCN7):c.1705A>G (p.Ile569Val)
|
rs753172781
|
0.00001
|
NM_001287.6(CLCN7):c.2014-5T>C
|
rs1032878925
|
0.00001
|
NM_001287.6(CLCN7):c.2331+14G>A
|
rs886051698
|
0.00001
|
NM_001287.6(CLCN7):c.253C>T (p.His85Tyr)
|
rs374263832
|
0.00001
|
NM_001287.6(CLCN7):c.352-11G>A
|
rs764398895
|
0.00001
|
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser)
|
rs367567630
|
0.00001
|
NM_001287.6(CLCN7):c.739-18G>A
|
rs371893553
|
0.00001
|
NM_001287.6(CLCN7):c.821A>G (p.Lys274Arg)
|
rs775085622
|
0.00001
|
NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp)
|
rs1291061962
|
0.00001
|
NM_001287.5(CLCN7):c.-81C>T
|
rs886051704
|
|
NM_001287.6(CLCN7):c.*1143_*1144dup
|
rs146690487
|
|
NM_001287.6(CLCN7):c.*1144dup
|
rs146690487
|
|
NM_001287.6(CLCN7):c.*1215C>A
|
rs893418963
|
|
NM_001287.6(CLCN7):c.*132C>T
|
rs764192196
|
|
NM_001287.6(CLCN7):c.*1497dup
|
rs373942084
|
|
NM_001287.6(CLCN7):c.*1619GGT[1]
|
rs143409179
|
|
NM_001287.6(CLCN7):c.*1623G>T
|
rs1451036503
|
|
NM_001287.6(CLCN7):c.*359A>G
|
rs762306226
|
|
NM_001287.6(CLCN7):c.*414C>T
|
rs886051695
|
|
NM_001287.6(CLCN7):c.*592G>C
|
rs184831951
|
|
NM_001287.6(CLCN7):c.*632C>G
|
rs751460368
|
|
NM_001287.6(CLCN7):c.*717C>A
|
rs886051693
|
|
NM_001287.6(CLCN7):c.*797G>T
|
rs886051692
|
|
NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys)
|
rs2142378398
|
|
NM_001287.6(CLCN7):c.1099-8C>T
|
rs1188556155
|
|
NM_001287.6(CLCN7):c.1125C>G (p.Ile375Met)
|
rs1410701535
|
|
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg)
|
rs1555465003
|
|
NM_001287.6(CLCN7):c.1208G>A (p.Arg403Gln)
|
rs765444328
|
|
NM_001287.6(CLCN7):c.1304C>T (p.Ser435Leu)
|
|
|
NM_001287.6(CLCN7):c.1448-15C>T
|
rs370055983
|
|
NM_001287.6(CLCN7):c.1448-2A>G
|
|
|
NM_001287.6(CLCN7):c.1448-43dup
|
rs61073146
|
|
NM_001287.6(CLCN7):c.1531G>C (p.Ala511Pro)
|
rs2142371312
|
|
NM_001287.6(CLCN7):c.1562G>C (p.Gly521Ala)
|
rs1261991162
|
|
NM_001287.6(CLCN7):c.1617+119G>A
|
rs922106856
|
|
NM_001287.6(CLCN7):c.1626G>A (p.Ala542=)
|
rs147838517
|
|
NM_001287.6(CLCN7):c.1637A>G (p.Lys546Arg)
|
|
|
NM_001287.6(CLCN7):c.1638del (p.Lys546fs)
|
rs2142368980
|
|
NM_001287.6(CLCN7):c.1663C>T (p.Gln555Ter)
|
rs121434432
|
|
NM_001287.6(CLCN7):c.1682G>A (p.Arg561Gln)
|
rs757788894
|
|
NM_001287.6(CLCN7):c.1714del (p.Glu572fs)
|
|
|
NM_001287.6(CLCN7):c.1751T>C (p.Met584Thr)
|
|
|
NM_001287.6(CLCN7):c.1797+15C>G
|
rs367688658
|
|
NM_001287.6(CLCN7):c.1797+4C>T
|
rs200682842
|
|
NM_001287.6(CLCN7):c.1841T>G (p.Leu614Arg)
|
rs1064794323
|
|
NM_001287.6(CLCN7):c.2021G>T (p.Arg674Leu)
|
rs758816489
|
|
NM_001287.6(CLCN7):c.2028G>C (p.Gln676His)
|
rs886051700
|
|
NM_001287.6(CLCN7):c.2030G>T (p.Gly677Val)
|
rs2142366157
|
|
NM_001287.6(CLCN7):c.2066del (p.Lys689fs)
|
rs2142366092
|
|
NM_001287.6(CLCN7):c.2124G>A (p.Leu708=)
|
rs2038669299
|
|
NM_001287.6(CLCN7):c.2150G>A (p.Arg717His)
|
rs886051699
|
|
NM_001287.6(CLCN7):c.2250+1G>T
|
rs1567263375
|
|
NM_001287.6(CLCN7):c.2274C>G (p.Phe758Leu)
|
rs760740877
|
|
NM_001287.6(CLCN7):c.2285G>A (p.Arg762Gln)
|
rs121434433
|
|
NM_001287.6(CLCN7):c.2297T>C (p.Leu766Pro)
|
rs121434434
|
|
NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp)
|
rs121434435
|
|
NM_001287.6(CLCN7):c.2332G>T (p.Val778Phe)
|
rs1172932679
|
|
NM_001287.6(CLCN7):c.2385_2386del (p.Gly796fs)
|
rs2142364275
|
|
NM_001287.6(CLCN7):c.285+8T>C
|
rs2038938204
|
|
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys)
|
rs387907576
|
|
NM_001287.6(CLCN7):c.436_438del (p.Ile146del)
|
|
|
NM_001287.6(CLCN7):c.608G>A (p.Gly203Asp)
|
|
|
NM_001287.6(CLCN7):c.643G>A (p.Gly215Arg)
|
rs397515539
|
|
NM_001287.6(CLCN7):c.676-86C>G
|
rs8060503
|
|
NM_001287.6(CLCN7):c.689A>G (p.Lys230Arg)
|
rs2142382909
|
|
NM_001287.6(CLCN7):c.698_712dup (p.Ser237_Val238insGlyValIleLeuSer)
|
rs2142382851
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NM_001287.6(CLCN7):c.774C>T (p.Ala258=)
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rs376136801
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NM_001287.6(CLCN7):c.781A>T (p.Ile261Phe)
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rs121434436
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NM_001287.6(CLCN7):c.838C>T (p.Arg280Cys)
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rs1395527274
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NM_001287.6(CLCN7):c.839G>A (p.Arg280His)
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rs1163577336
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NM_001287.6(CLCN7):c.892dup (p.Ser298fs)
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NM_001287.6(CLCN7):c.913G>A (p.Val305Met)
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rs558354107
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NM_001287.6(CLCN7):c.952T>C (p.Phe318Leu)
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rs2038825509
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NM_001287.6(CLCN7):c.994A>G (p.Met332Val)
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rs2142378539
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