NM_001127898.4(CLCN5):c.1558-14G>C
|
rs7063765
|
0.16646
|
NM_001127898.4(CLCN5):c.*3652T>C
|
rs56657044
|
0.12053
|
NM_001127898.4(CLCN5):c.*5956T>C
|
rs932286
|
0.11938
|
NM_001127898.4(CLCN5):c.1914C>T (p.Pro638=)
|
rs34173954
|
0.06506
|
NM_001127898.4(CLCN5):c.*3255C>T
|
rs112868450
|
0.06187
|
NM_001127898.4(CLCN5):c.*5144C>T
|
rs111560086
|
0.04593
|
NM_001127898.4(CLCN5):c.1203G>C (p.Leu401=)
|
rs34122840
|
0.04506
|
NM_001127898.4(CLCN5):c.*2860T>C
|
rs140913229
|
0.04145
|
NM_001127898.4(CLCN5):c.*869A>G
|
rs139746970
|
0.01794
|
NM_001127898.4(CLCN5):c.*3409A>G
|
rs59126550
|
0.01695
|
NM_001127898.4(CLCN5):c.416-6A>T
|
rs6651602
|
0.01679
|
NM_001127898.4(CLCN5):c.*4192C>T
|
rs148902882
|
0.01144
|
NM_001127898.4(CLCN5):c.*4692C>T
|
rs143625654
|
0.00773
|
NM_001127898.4(CLCN5):c.636G>A (p.Met212Ile)
|
rs34800648
|
0.00771
|
NM_001127898.4(CLCN5):c.*349G>A
|
rs111438914
|
0.00485
|
NM_001127898.4(CLCN5):c.*6143C>T
|
rs141665472
|
0.00336
|
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=)
|
rs144901347
|
0.00327
|
NM_001127898.4(CLCN5):c.*3495A>G
|
rs183523710
|
0.00296
|
NM_001127898.4(CLCN5):c.*6955C>G
|
rs186369163
|
0.00273
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
NM_001127898.4(CLCN5):c.*6217G>A
|
rs781967731
|
0.00151
|
NM_001127898.4(CLCN5):c.1473C>T (p.Gly491=)
|
rs145670120
|
0.00136
|
NM_001127898.4(CLCN5):c.*2980A>G
|
rs56147923
|
0.00116
|
NM_001127898.4(CLCN5):c.*4740C>G
|
rs781970249
|
0.00102
|
NM_001127898.4(CLCN5):c.*1723G>A
|
rs781902814
|
0.00097
|
NM_001127898.4(CLCN5):c.*1470C>T
|
rs186889927
|
0.00094
|
NM_001127898.4(CLCN5):c.*6240G>C
|
rs782177733
|
0.00073
|
NM_001127898.4(CLCN5):c.164-2301G>A
|
rs781805006
|
0.00063
|
NM_001127898.4(CLCN5):c.164-2333T>G
|
rs41310663
|
0.00059
|
NM_001127898.4(CLCN5):c.2361-18A>G
|
rs372830719
|
0.00057
|
NM_001127898.4(CLCN5):c.554A>G (p.Lys185Arg)
|
rs55676763
|
0.00051
|
NM_001127898.4(CLCN5):c.*6163T>C
|
rs41312128
|
0.00050
|
NM_001127898.4(CLCN5):c.*4034A>T
|
rs782274908
|
0.00042
|
NM_001127898.4(CLCN5):c.*1292C>T
|
rs781855238
|
0.00041
|
NM_001127898.4(CLCN5):c.*5140A>G
|
rs182121138
|
0.00027
|
NM_000276.4(OCRL):c.912T>G (p.Gly304=)
|
rs190659938
|
0.00022
|
NM_000276.4(OCRL):c.105G>A (p.Arg35=)
|
rs142321728
|
0.00020
|
NM_000276.4(OCRL):c.152A>G (p.His51Arg)
|
rs764804719
|
0.00020
|
NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met)
|
rs140514551
|
0.00020
|
NM_001127898.4(CLCN5):c.*2479G>A
|
rs782387568
|
0.00018
|
NM_001127898.4(CLCN5):c.*6538G>A
|
rs781863818
|
0.00016
|
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=)
|
rs199594074
|
0.00015
|
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His)
|
rs147798092
|
0.00015
|
NM_000276.4(OCRL):c.2415C>T (p.Tyr805=)
|
rs377180274
|
0.00014
|
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe)
|
rs760751280
|
0.00014
|
NM_001127898.4(CLCN5):c.*6638G>A
|
rs963123113
|
0.00014
|
NM_000276.4(OCRL):c.1587C>G (p.Ala529=)
|
rs375634816
|
0.00013
|
NM_001127898.4(CLCN5):c.*3091G>A
|
rs782521596
|
0.00013
|
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His)
|
rs781790886
|
0.00013
|
NM_001127898.4(CLCN5):c.164-2130C>T
|
rs782456542
|
0.00012
|
NM_001127898.4(CLCN5):c.*2324G>A
|
rs782677531
|
0.00011
|
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His)
|
rs148124447
|
0.00011
|
NM_001127898.4(CLCN5):c.*4297A>C
|
rs868964422
|
0.00009
|
NM_001127898.4(CLCN5):c.*4606A>C
|
rs1024086673
|
0.00009
|
NM_001127898.4(CLCN5):c.164-2249C>T
|
rs781792158
|
0.00009
|
NM_001127898.4(CLCN5):c.315+12G>A
|
rs781796383
|
0.00009
|
NM_000276.4(OCRL):c.11C>T (p.Pro4Leu)
|
rs770815981
|
0.00008
|
NM_001127898.4(CLCN5):c.*1874G>A
|
rs1053041096
|
0.00008
|
NM_001127898.4(CLCN5):c.*5088G>T
|
rs1024034661
|
0.00008
|
NM_001127898.4(CLCN5):c.*2384A>C
|
rs1349157919
|
0.00007
|
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile)
|
rs201962580
|
0.00007
|
NM_000276.4(OCRL):c.2138A>G (p.Lys713Arg)
|
rs148646884
|
0.00006
|
NM_000276.4(OCRL):c.284G>A (p.Arg95His)
|
rs770375201
|
0.00006
|
NM_001127898.4(CLCN5):c.*5377G>A
|
rs1397080511
|
0.00006
|
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys)
|
rs782056386
|
0.00006
|
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)
|
rs376280495
|
0.00005
|
NM_001127898.4(CLCN5):c.*1339A>G
|
rs782530331
|
0.00005
|
NM_001127898.4(CLCN5):c.*1887G>C
|
rs782403661
|
0.00005
|
NM_001127898.4(CLCN5):c.*6482C>T
|
rs997377113
|
0.00005
|
NM_001127898.4(CLCN5):c.1243C>T (p.Arg415Trp)
|
rs782817681
|
0.00005
|
NM_001127898.4(CLCN5):c.1244G>A (p.Arg415Gln)
|
rs190451218
|
0.00005
|
NM_001127898.4(CLCN5):c.164-2276G>A
|
rs905143179
|
0.00005
|
NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met)
|
rs781924436
|
0.00005
|
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp)
|
rs773022942
|
0.00004
|
NM_001127898.4(CLCN5):c.*2317G>A
|
rs969354356
|
0.00004
|
NM_001127898.4(CLCN5):c.*2460G>A
|
rs111452206
|
0.00004
|
NM_001127898.4(CLCN5):c.*559A>G
|
rs375542213
|
0.00004
|
NM_001127898.4(CLCN5):c.*6372T>C
|
rs573740499
|
0.00004
|
NM_001127898.4(CLCN5):c.1816G>A (p.Val606Met)
|
rs782060809
|
0.00004
|
NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala)
|
rs147378499
|
0.00004
|
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn)
|
rs782412118
|
0.00004
|
NM_001127898.4(CLCN5):c.942G>A (p.Ser314=)
|
rs782320623
|
0.00004
|
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala)
|
rs371099243
|
0.00003
|
NM_001127898.4(CLCN5):c.*1625C>T
|
rs1354057843
|
0.00003
|
NM_001127898.4(CLCN5):c.*3090C>T
|
rs1057515940
|
0.00003
|
NM_001127898.4(CLCN5):c.*3912C>T
|
rs1235435896
|
0.00003
|
NM_001127898.4(CLCN5):c.*4911G>A
|
rs1189982201
|
0.00003
|
NM_001127898.4(CLCN5):c.*5895T>A
|
rs1057515947
|
0.00003
|
NM_001127898.4(CLCN5):c.*6608C>T
|
rs1016988265
|
0.00003
|
NM_001127898.4(CLCN5):c.1251A>G (p.Arg417=)
|
rs782591993
|
0.00003
|
NM_001127898.4(CLCN5):c.1466C>T (p.Pro489Leu)
|
rs782602018
|
0.00003
|
NM_001127898.4(CLCN5):c.164-2118G>T
|
rs957427726
|
0.00003
|
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)
|
rs748186190
|
0.00002
|
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg)
|
rs1388273402
|
0.00002
|
NM_001127898.4(CLCN5):c.*1447T>G
|
rs543285083
|
0.00002
|
NM_001127898.4(CLCN5):c.*1735T>C
|
rs782712129
|
0.00002
|
NM_001127898.4(CLCN5):c.*2270A>G
|
rs1057515936
|
0.00002
|
NM_001127898.4(CLCN5):c.*2849C>T
|
rs969468804
|
0.00002
|
NM_001127898.4(CLCN5):c.*477G>A
|
rs1035298488
|
0.00002
|
NM_001127898.4(CLCN5):c.*866A>G
|
rs1323934459
|
0.00002
|
NM_001127898.4(CLCN5):c.1537A>G (p.Ile513Val)
|
rs1210108844
|
0.00002
|
NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val)
|
rs782088515
|
0.00002
|
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser)
|
rs946613180
|
0.00002
|
NM_001127898.4(CLCN5):c.696G>A (p.Ala232=)
|
rs140312372
|
0.00002
|
NM_000276.4(OCRL):c.115T>C (p.Tyr39His)
|
rs756670728
|
0.00001
|
NM_000276.4(OCRL):c.164T>C (p.Ile55Thr)
|
rs1278754966
|
0.00001
|
NM_000276.4(OCRL):c.1656C>T (p.Arg552=)
|
rs761645724
|
0.00001
|
NM_000276.4(OCRL):c.1889T>C (p.Val630Ala)
|
rs768629676
|
0.00001
|
NM_000276.4(OCRL):c.2582-9G>A
|
rs2071705
|
0.00001
|
NM_000276.4(OCRL):c.92C>T (p.Thr31Ile)
|
rs762676076
|
0.00001
|
NM_001127898.4(CLCN5):c.*1868T>C
|
rs1934188059
|
0.00001
|
NM_001127898.4(CLCN5):c.*1938G>A
|
rs1234577943
|
0.00001
|
NM_001127898.4(CLCN5):c.*3627C>T
|
rs1057515941
|
0.00001
|
NM_001127898.4(CLCN5):c.*3937C>A
|
rs1057515942
|
0.00001
|
NM_001127898.4(CLCN5):c.*39C>T
|
rs781818466
|
0.00001
|
NM_001127898.4(CLCN5):c.*5340A>C
|
rs1234568435
|
0.00001
|
NM_001127898.4(CLCN5):c.*5844C>T
|
rs957036730
|
0.00001
|
NM_001127898.4(CLCN5):c.1488T>C (p.Ser496=)
|
rs781920581
|
0.00001
|
NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln)
|
rs1318459336
|
0.00001
|
NM_001127898.4(CLCN5):c.1872G>A (p.Arg624=)
|
rs781948493
|
0.00001
|
NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val)
|
rs200953235
|
0.00001
|
NM_005540.3(INPP5B):c.152C>T (p.Ala51Val)
|
rs773387490
|
0.00001
|
NC_000023.11:g.(?_49922616)_(50099235_?)del
|
|
|
NG_007159.3:g.(?_162979)_(164232_?)del
|
|
|
NG_007159.3:g.173054_173069dupinsAluYa5
|
|
|
NG_008638.1:g.(5550_9683)_(13328_22050)del
|
|
|
NM_000276.4(OCRL):c.1040G>A (p.Gly347Glu)
|
rs1057521742
|
|
NM_000276.4(OCRL):c.1056+1G>A
|
|
|
NM_000276.4(OCRL):c.1060A>C (p.Asn354His)
|
rs137853833
|
|
NM_000276.4(OCRL):c.108del (p.Asn36fs)
|
|
|
NM_000276.4(OCRL):c.111del (p.Gln38fs)
|
|
|
NM_000276.4(OCRL):c.1190T>A (p.Met397Lys)
|
|
|
NM_000276.4(OCRL):c.1244+1G>A
|
rs1936163310
|
|
NM_000276.4(OCRL):c.1245-1083G>A
|
rs1936192276
|
|
NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys)
|
rs137853262
|
|
NM_000276.4(OCRL):c.1458G>A (p.Trp486Ter)
|
rs2124410812
|
|
NM_000276.4(OCRL):c.1466+4A>G
|
rs1026438062
|
|
NM_000276.4(OCRL):c.1467-1G>A
|
|
|
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp)
|
rs137853846
|
|
NM_000276.4(OCRL):c.1580T>A (p.Val527Asp)
|
|
|
NM_000276.4(OCRL):c.1598T>C (p.Ile533Thr)
|
rs2124412922
|
|
NM_000276.4(OCRL):c.167_168del (p.Ile56fs)
|
rs2124388022
|
|
NM_000276.4(OCRL):c.1713+2T>C
|
rs2124417909
|
|
NM_000276.4(OCRL):c.187_199+449del
|
rs1556338810
|
|
NM_000276.4(OCRL):c.200-11dup
|
rs765652296
|
|
NM_000276.4(OCRL):c.2078C>T (p.Pro693Leu)
|
rs1936370877
|
|
NM_000276.4(OCRL):c.217_218del (p.Leu73fs)
|
rs2124392540
|
|
NM_000276.4(OCRL):c.2209G>A (p.Glu737Lys)
|
|
|
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)
|
rs1602819835
|
|
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)
|
rs387906484
|
|
NM_000276.4(OCRL):c.2582-1G>C
|
|
|
NM_000276.4(OCRL):c.2651_2653del (p.Arg884del)
|
rs1936569806
|
|
NM_000276.4(OCRL):c.533del (p.Pro178fs)
|
rs1602782082
|
|
NM_000276.4(OCRL):c.561G>A (p.Met187Ile)
|
rs916507337
|
|
NM_000276.4(OCRL):c.934A>G (p.Lys312Glu)
|
rs1936141520
|
|
NM_000276.4(OCRL):c.940-11G>A
|
rs776743373
|
|
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)
|
rs137853263
|
|
NM_000276.4(OCRL):c.953G>A (p.Arg318His)
|
rs2124405779
|
|
NM_001127898.4(CLCN5):c.*1160del
|
rs782607038
|
|
NM_001127898.4(CLCN5):c.*1564_*1567del
|
rs1057515934
|
|
NM_001127898.4(CLCN5):c.*2557A>G
|
rs1057515938
|
|
NM_001127898.4(CLCN5):c.*3071A>G
|
rs1057515939
|
|
NM_001127898.4(CLCN5):c.*3388T>G
|
rs1934238784
|
|
NM_001127898.4(CLCN5):c.*379G>C
|
rs782172153
|
|
NM_001127898.4(CLCN5):c.*3957C>G
|
rs1934256135
|
|
NM_001127898.4(CLCN5):c.*403_*406del
|
rs782795406
|
|
NM_001127898.4(CLCN5):c.*504G>C
|
rs1057515931
|
|
NM_001127898.4(CLCN5):c.*5240T>C
|
rs1934296250
|
|
NM_001127898.4(CLCN5):c.*5349del
|
rs1057515944
|
|
NM_001127898.4(CLCN5):c.*5815T>C
|
rs1057515945
|
|
NM_001127898.4(CLCN5):c.*5899_*5900del
|
rs1057515946
|
|
NM_001127898.4(CLCN5):c.*5970C>T
|
rs1934320534
|
|
NM_001127898.4(CLCN5):c.*6275GTA[3]
|
rs782085954
|
|
NM_001127898.4(CLCN5):c.*6694C>T
|
rs1569540841
|
|
NM_001127898.4(CLCN5):c.*6841T>C
|
rs1934346410
|
|
NM_001127898.4(CLCN5):c.*969A>C
|
rs1057515932
|
|
NM_001127898.4(CLCN5):c.*969A>G
|
rs1057515932
|
|
NM_001127898.4(CLCN5):c.1012G>T (p.Glu338Ter)
|
rs1933873534
|
|
NM_001127898.4(CLCN5):c.1014+1G>A
|
rs2147594243
|
|
NM_001127898.4(CLCN5):c.1025A>G (p.Tyr342Cys)
|
rs273585644
|
|
NM_001127898.4(CLCN5):c.1044G>C (p.Leu348Phe)
|
rs273585648
|
|
NM_001127898.4(CLCN5):c.1046G>A (p.Trp349Ter)
|
rs797044809
|
|
NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter)
|
rs151340620
|
|
NM_001127898.4(CLCN5):c.1049G>C (p.Arg350Pro)
|
rs151340628
|
|
NM_001127898.4(CLCN5):c.1061C>T (p.Ala354Val)
|
rs1060499698
|
|
NM_001127898.4(CLCN5):c.1150T>C (p.Trp384Arg)
|
|
|
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs)
|
rs1933891368
|
|
NM_001127898.4(CLCN5):c.1230C>A (p.Asn410Lys)
|
rs273585646
|
|
NM_001127898.4(CLCN5):c.1238G>A (p.Trp413Ter)
|
rs151340627
|
|
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter)
|
rs797044810
|
|
NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs)
|
rs1933898062
|
|
NM_001127898.4(CLCN5):c.1386_1387del (p.Cys462fs)
|
rs2147596542
|
|
NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His)
|
rs1569540369
|
|
NM_001127898.4(CLCN5):c.1420G>A (p.Glu474Lys)
|
|
|
NM_001127898.4(CLCN5):c.1441A>T (p.Lys481Ter)
|
rs1933903437
|
|
NM_001127898.4(CLCN5):c.1448del (p.Gly483fs)
|
|
|
NM_001127898.4(CLCN5):c.1452del (p.Glu484fs)
|
|
|
NM_001127898.4(CLCN5):c.1474G>A (p.Val492Met)
|
rs368039993
|
|
NM_001127898.4(CLCN5):c.1495T>C (p.Trp499Arg)
|
|
|
NM_001127898.4(CLCN5):c.1517_1518dup (p.Leu507fs)
|
|
|
NM_001127898.4(CLCN5):c.1557+1G>T
|
rs1569540382
|
|
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs)
|
rs1933979876
|
|
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter)
|
rs797044811
|
|
NM_001127898.4(CLCN5):c.1628T>C (p.Met543Thr)
|
|
|
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter)
|
rs1557194353
|
|
NM_001127898.4(CLCN5):c.1727G>A (p.Gly576Glu)
|
rs151340625
|
|
NM_001127898.4(CLCN5):c.1730del (p.Ala577fs)
|
rs1933984291
|
|
NM_001127898.4(CLCN5):c.1745G>A (p.Gly582Asp)
|
|
|
NM_001127898.4(CLCN5):c.1747G>A (p.Gly583Arg)
|
rs273585647
|
|
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp)
|
rs797044812
|
|
NM_001127898.4(CLCN5):c.1768T>C (p.Ser590Pro)
|
rs151340623
|
|
NM_001127898.4(CLCN5):c.1768dup (p.Ser590fs)
|
rs1934037265
|
|
NM_001127898.4(CLCN5):c.1771_1772del (p.Leu591fs)
|
rs1934037561
|
|
NM_001127898.4(CLCN5):c.1810T>A (p.Tyr604Asn)
|
rs1934039336
|
|
NM_001127898.4(CLCN5):c.1847A>G (p.Lys616Arg)
|
rs273585649
|
|
NM_001127898.4(CLCN5):c.1849T>G (p.Trp617Gly)
|
rs273585650
|
|
NM_001127898.4(CLCN5):c.1851G>T (p.Trp617Cys)
|
rs1934041295
|
|
NM_001127898.4(CLCN5):c.1938del (p.Phe646fs)
|
rs2147605760
|
|
NM_001127898.4(CLCN5):c.1A>G (p.Met1Val)
|
|
|
NM_001127898.4(CLCN5):c.2060dup (p.Tyr687Ter)
|
rs2147606263
|
|
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter)
|
rs797044813
|
|
NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter)
|
rs151340621
|
|
NM_001127898.4(CLCN5):c.2197A>G (p.Thr733Ala)
|
rs1934065991
|
|
NM_001127898.4(CLCN5):c.2236del (p.Thr746fs)
|
rs1934069016
|
|
NM_001127898.4(CLCN5):c.2293C>T (p.Pro765Ser)
|
rs782267039
|
|
NM_001127898.4(CLCN5):c.2295del (p.Met766fs)
|
rs1569540520
|
|
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter)
|
rs151340624
|
|
NM_001127898.4(CLCN5):c.2362C>T (p.Arg788Ter)
|
rs797044814
|
|
NM_001127898.4(CLCN5):c.2393_2415del (p.Val798fs)
|
rs797044815
|
|
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter)
|
rs1049618423
|
|
NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter)
|
rs797044808
|
|
NM_001127898.4(CLCN5):c.315G>A (p.Glu105=)
|
|
|
NM_001127898.4(CLCN5):c.332_333del (p.Lys111fs)
|
rs1933254834
|
|
NM_001127898.4(CLCN5):c.334G>T (p.Glu112Ter)
|
rs1933255436
|
|
NM_001127898.4(CLCN5):c.344G>A (p.Trp115Ter)
|
rs1569540047
|
|
NM_001127898.4(CLCN5):c.379G>C (p.Gly127Arg)
|
rs782720805
|
|
NM_001127898.4(CLCN5):c.380G>T (p.Gly127Val)
|
rs151340629
|
|
NM_001127898.4(CLCN5):c.384G>C (p.Trp128Cys)
|
rs1933257247
|
|
NM_001127898.4(CLCN5):c.477_478dup (p.Cys160fs)
|
rs1933380245
|
|
NM_001127898.4(CLCN5):c.575G>A (p.Trp192Ter)
|
rs1557192084
|
|
NM_001127898.4(CLCN5):c.667del (p.Ala224fs)
|
|
|
NM_001127898.4(CLCN5):c.776G>A (p.Trp259Ter)
|
|
|
NM_001127898.4(CLCN5):c.809T>G (p.Leu270Arg)
|
rs151340622
|
|
NM_001127898.4(CLCN5):c.819= (p.Ser273=)
|
rs34464675
|
|
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg)
|
rs1933713383
|
|
NM_001127898.4(CLCN5):c.884T>C (p.Leu295Pro)
|
rs273585645
|
|
NM_001127898.4(CLCN5):c.933+2T>C
|
rs2147582103
|
|
NM_001127898.4(CLCN5):c.933+3A>C
|
rs1602123559
|
|
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter)
|
rs151340626
|
|
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)
|
rs151340626
|
|
NM_001127898.4(CLCN5):c.961G>A (p.Val321Ile)
|
rs1557193807
|
|
NM_001127898.4(CLCN5):c.976G>C (p.Gly326Arg)
|
rs2147594126
|
|
NM_001127898.4(CLCN5):c.989G>T (p.Gly330Val)
|
rs151340630
|
|
Single allele
|
|
|