NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)
|
rs59172778
|
0.00742
|
NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter)
|
rs137853159
|
0.00033
|
NM_057176.3(BSND):c.139G>A (p.Gly47Arg)
|
rs74315289
|
0.00016
|
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)
|
rs121909132
|
0.00006
|
NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn)
|
rs137853157
|
0.00006
|
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)
|
rs121909133
|
0.00004
|
NM_057176.3(BSND):c.22C>T (p.Arg8Trp)
|
rs74315285
|
0.00004
|
NM_057176.3(BSND):c.3G>A (p.Met1Ile)
|
rs74315286
|
0.00004
|
NM_000085.5(CLCNKB):c.371C>T (p.Pro124Leu)
|
rs121909131
|
0.00003
|
NM_000085.5(CLCNKB):c.782-2A>G
|
rs779908241
|
0.00002
|
NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val)
|
rs104894246
|
0.00002
|
NM_000085.5(CLCNKB):c.1046C>A (p.Ala349Asp)
|
rs121909134
|
0.00001
|
NM_000338.3(SLC12A1):c.2787dup (p.Thr931fs)
|
rs1057520302
|
0.00001
|
NM_004070.4(CLCNKA):c.778C>T (p.Gln260Ter)
|
rs121909138
|
0.00001
|
NM_153766.3(KCNJ1):c.443G>A (p.Gly148Glu)
|
rs104894254
|
0.00001
|
KCNJ1, TRP58TER
|
|
|
NC_000001.11:g.(?_16043782)_(16057326_?)del
|
|
|
NM_000085.5(CLCNKB):c.1294T>C (p.Tyr432His)
|
rs121909135
|
|
NM_000338.3(SLC12A1):c.1137del (p.Phe380fs)
|
rs1057520300
|
|
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs)
|
rs1057520304
|
|
NM_000338.3(SLC12A1):c.1883C>A (p.Ala628Asp)
|
rs1057520301
|
|
NM_000338.3(SLC12A1):c.2095del (p.Asp699fs)
|
rs1057519608
|
|
NM_000338.3(SLC12A1):c.2498_2499del (p.Arg833fs)
|
rs1057520303
|
|
NM_000338.3(SLC12A1):c.724+4A>G
|
rs774515747
|
|
NM_000338.3(SLC12A1):c.814G>T (p.Val272Phe)
|
rs137853158
|
|
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)
|
rs104893706
|
|
NM_000388.4(CASR):c.374T>C (p.Leu125Pro)
|
rs104893708
|
|
NM_000388.4(CASR):c.393C>G (p.Cys131Trp)
|
rs121909267
|
|
NM_000388.4(CASR):c.85A>G (p.Lys29Glu)
|
rs397514729
|
|
NM_004070.4(CLCNKA):c.240G>C (p.Trp80Cys)
|
rs121909137
|
|
NM_057176.3(BSND):c.157_177+20del
|
rs1389952796
|
|
NM_057176.3(BSND):c.1A>T (p.Met1Leu)
|
rs74315284
|
|
NM_057176.3(BSND):c.23G>T (p.Arg8Leu)
|
rs74315288
|
|
NM_057176.3(BSND):c.273-887_*576del
|
|
|
NM_057176.3(BSND):c.28G>A (p.Gly10Ser)
|
rs74315287
|
|
NM_153766.3(KCNJ1):c.180C>G (p.Tyr60Ter)
|
rs104894244
|
|
NM_153766.3(KCNJ1):c.265G>C (p.Asp89His)
|
rs104894250
|
|
NM_153766.3(KCNJ1):c.315T>A (p.Asn105Lys)
|
rs104894251
|
|
NM_153766.3(KCNJ1):c.42dup (p.Gly15fs)
|
rs2135941091
|
|
NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr)
|
rs104894253
|
|
NM_153766.3(KCNJ1):c.600C>G (p.Ser200Arg)
|
rs104894245
|
|
NM_177433.3(MAGED2):c.1038C>G (p.Tyr346Ter)
|
rs878854404
|
|
NM_177433.3(MAGED2):c.1336C>T (p.Arg446Cys)
|
rs878854407
|
|
NM_177433.3(MAGED2):c.386_387del (p.Val129fs)
|
rs878854406
|
|
NM_177433.3(MAGED2):c.397A>T (p.Lys133Ter)
|
rs875989852
|
|
NM_177433.3(MAGED2):c.991-2A>G
|
rs878854405
|
|