NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_001126108.2(SLC12A3):c.2856+1G>T
|
rs199974259
|
0.00024
|
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)
|
rs121909379
|
0.00018
|
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)
|
rs121909380
|
0.00011
|
NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys)
|
rs373899077
|
0.00011
|
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)
|
rs759377924
|
0.00009
|
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met)
|
rs145337602
|
0.00009
|
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His)
|
rs759532318
|
0.00008
|
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)
|
rs148038173
|
0.00008
|
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)
|
rs373901523
|
0.00008
|
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)
|
rs202114767
|
0.00008
|
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met)
|
rs187885782
|
0.00006
|
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr)
|
rs201945662
|
0.00006
|
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp)
|
rs559626481
|
0.00006
|
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter)
|
rs201190064
|
0.00006
|
NM_001126108.2(SLC12A3):c.2037+1G>A
|
rs775799617
|
0.00005
|
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg)
|
rs752101663
|
0.00005
|
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)
|
rs374163823
|
0.00004
|
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met)
|
rs371443644
|
0.00004
|
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln)
|
rs768527231
|
0.00004
|
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His)
|
rs374324018
|
0.00004
|
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln)
|
rs1274973729
|
0.00004
|
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln)
|
rs758035631
|
0.00004
|
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)
|
rs140551719
|
0.00004
|
NM_001126108.2(SLC12A3):c.1670-191C>T
|
rs374182921
|
0.00003
|
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)
|
rs779160677
|
0.00003
|
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His)
|
rs147901432
|
0.00003
|
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp)
|
rs201255508
|
0.00003
|
NM_001126108.2(SLC12A3):c.2505G>A (p.Trp835Ter)
|
rs1366655422
|
0.00003
|
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys)
|
rs146158333
|
0.00003
|
NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro)
|
rs780594361
|
0.00003
|
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile)
|
rs748575829
|
0.00002
|
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)
|
rs775931992
|
0.00002
|
NM_001126108.2(SLC12A3):c.1489A>T (p.Lys497Ter)
|
rs746818109
|
0.00002
|
NM_001126108.2(SLC12A3):c.2029G>A (p.Val677Met)
|
rs771326058
|
0.00002
|
NM_001126108.2(SLC12A3):c.2717_2720dup (p.His907fs)
|
rs750735794
|
0.00002
|
NM_001126108.2(SLC12A3):c.911C>T (p.Thr304Met)
|
rs755069436
|
0.00002
|
NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val)
|
rs748920885
|
0.00002
|
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu)
|
rs121909383
|
0.00001
|
NM_001126108.2(SLC12A3):c.1095+1G>T
|
rs1310654829
|
0.00001
|
NM_001126108.2(SLC12A3):c.1180+1G>T
|
rs749098014
|
0.00001
|
NM_001126108.2(SLC12A3):c.1261T>C (p.Cys421Arg)
|
rs28936387
|
0.00001
|
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn)
|
rs753523115
|
0.00001
|
NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr)
|
rs781137708
|
0.00001
|
NM_001126108.2(SLC12A3):c.1568-1G>A
|
rs199511487
|
0.00001
|
NM_001126108.2(SLC12A3):c.1868T>C (p.Leu623Pro)
|
rs121909385
|
0.00001
|
NM_001126108.2(SLC12A3):c.1926-1G>T
|
rs755560627
|
0.00001
|
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys)
|
rs747249619
|
0.00001
|
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs)
|
rs771701344
|
0.00001
|
NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn)
|
rs1298687889
|
0.00001
|
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His)
|
rs185927948
|
0.00001
|
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His)
|
rs751929135
|
0.00001
|
NM_001126108.2(SLC12A3):c.2633+1G>A
|
rs778455414
|
0.00001
|
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)
|
rs369360334
|
0.00001
|
NM_001126108.2(SLC12A3):c.2851_2852insAGGGGTGCACCCTC (p.Val951fs)
|
rs754576009
|
0.00001
|
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys)
|
rs749742102
|
0.00001
|
NM_001126108.2(SLC12A3):c.438C>A (p.Cys146Ter)
|
rs751409326
|
0.00001
|
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met)
|
rs267607050
|
0.00001
|
NM_001126108.2(SLC12A3):c.506-1G>A
|
rs201555148
|
0.00001
|
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg)
|
rs757792232
|
0.00001
|
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu)
|
rs772589653
|
0.00001
|
NM_001126108.2(SLC12A3):c.539_543del (p.Thr180fs)
|
rs1246662762
|
0.00001
|
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp)
|
rs759426055
|
0.00001
|
NM_001126108.2(SLC12A3):c.595_596del (p.Lys199fs)
|
rs2055066583
|
0.00001
|
NM_001126108.2(SLC12A3):c.602-2A>G
|
rs766670862
|
0.00001
|
NM_001126108.2(SLC12A3):c.625C>T (p.Arg209Trp)
|
rs28936388
|
0.00001
|
NM_001126108.2(SLC12A3):c.741+1G>A
|
rs1187506921
|
0.00001
|
NM_001126108.2(SLC12A3):c.910A>C (p.Thr304Pro)
|
rs753840283
|
0.00001
|
NC_000016.10:g.(?_56869719)_(56870746_?)del
|
|
|
NC_000016.10:g.(?_56885255)_(56887103_?)del
|
|
|
NC_000016.10:g.(?_56902363)_(56904472_?)del
|
|
|
NC_000016.10:g.(?_56913254)_(56913415_?)del
|
|
|
NC_000016.10:g.56865169_56865258del
|
|
|
NC_000016.10:g.56872351del
|
|
|
NC_000016.10:g.56886954del
|
rs2144729905
|
|
NC_000016.9:g.(?_56897620)_(56906303_?)del
|
|
|
NC_000016.9:g.(?_56900972)_(56902294_?)del
|
|
|
NC_000016.9:g.(?_56906253)_(56912083_?)del
|
|
|
NC_000016.9:g.(?_56911979)_(56918126_?)dup
|
|
|
NC_000016.9:g.(?_56917770)_(56918126_?)del
|
|
|
NC_000016.9:g.(?_56921827)_(56921953_?)del
|
|
|
NC_000016.9:g.(?_56925985)_(56936430_?)del
|
|
|
NC_000016.9:g.(?_56938297)_(56938384_?)del
|
|
|
NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp)
|
|
|
NM_001126108.2(SLC12A3):c.1024G>T (p.Gly342Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1045C>T (p.Pro349Ser)
|
|
|
NM_001126108.2(SLC12A3):c.1047del (p.Ser350fs)
|
rs2144695707
|
|
NM_001126108.2(SLC12A3):c.1072del (p.Ala358fs)
|
|
|
NM_001126108.2(SLC12A3):c.1077C>G (p.Asn359Lys)
|
rs181865675
|
|
NM_001126108.2(SLC12A3):c.1084G>A (p.Gly362Ser)
|
|
|
NM_001126108.2(SLC12A3):c.1095+1G>C
|
|
|
NM_001126108.2(SLC12A3):c.1143G>A (p.Trp381Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1180+2T>C
|
rs1212299212
|
|
NM_001126108.2(SLC12A3):c.1181G>A (p.Gly394Asp)
|
rs777815715
|
|
NM_001126108.2(SLC12A3):c.1188C>A (p.Cys396Ter)
|
rs747139582
|
|
NM_001126108.2(SLC12A3):c.1196G>C (p.Arg399Pro)
|
|
|
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu)
|
rs13306668
|
|
NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer)
|
rs751871500
|
|
NM_001126108.2(SLC12A3):c.1218_1219del (p.Asn406fs)
|
|
|
NM_001126108.2(SLC12A3):c.1232del (p.Pro411fs)
|
|
|
NM_001126108.2(SLC12A3):c.1238G>A (p.Trp413Ter)
|
rs2144711481
|
|
NM_001126108.2(SLC12A3):c.1256del (p.Leu419fs)
|
|
|
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs)
|
rs2144711571
|
|
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr)
|
rs781342495
|
|
NM_001126108.2(SLC12A3):c.1288T>G (p.Cys430Gly)
|
rs2144711663
|
|
NM_001126108.2(SLC12A3):c.1289G>A (p.Cys430Tyr)
|
|
|
NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter)
|
rs776210036
|
|
NM_001126108.2(SLC12A3):c.1332C>A (p.Tyr444Ter)
|
rs368907927
|
|
NM_001126108.2(SLC12A3):c.1332C>G (p.Tyr444Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1390dup (p.Ala464fs)
|
|
|
NM_001126108.2(SLC12A3):c.1424C>G (p.Ser475Cys)
|
|
|
NM_001126108.2(SLC12A3):c.157del (p.Met53fs)
|
rs2144678137
|
|
NM_001126108.2(SLC12A3):c.1619A>G (p.Tyr540Cys)
|
rs2144719500
|
|
NM_001126108.2(SLC12A3):c.1619_1625del (p.Tyr540fs)
|
|
|
NM_001126108.2(SLC12A3):c.1619del (p.Tyr540fs)
|
rs2055253871
|
|
NM_001126108.2(SLC12A3):c.1620T>A (p.Tyr540Ter)
|
rs2144719508
|
|
NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly)
|
rs1451284628
|
|
NM_001126108.2(SLC12A3):c.1664C>A (p.Ser555Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1670-1G>T
|
|
|
NM_001126108.2(SLC12A3):c.1674G>A (p.Trp558Ter)
|
rs2144723074
|
|
NM_001126108.2(SLC12A3):c.1703G>A (p.Trp568Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1742T>A (p.Met581Lys)
|
rs146191537
|
|
NM_001126108.2(SLC12A3):c.1743del (p.Met581fs)
|
rs754220610
|
|
NM_001126108.2(SLC12A3):c.1758G>A (p.Trp586Ter)
|
|
|
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val)
|
rs121909382
|
|
NM_001126108.2(SLC12A3):c.1805_1806del (p.Tyr602fs)
|
rs2144723594
|
|
NM_001126108.2(SLC12A3):c.1807del (p.Val603fs)
|
rs2144723620
|
|
NM_001126108.2(SLC12A3):c.181_190del (p.Ile61fs)
|
|
|
NM_001126108.2(SLC12A3):c.1844C>A (p.Ser615Ter)
|
|
|
NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn)
|
rs757490496
|
|
NM_001126108.2(SLC12A3):c.185A>G (p.Asp62Gly)
|
|
|
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly)
|
rs200697179
|
|
NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys)
|
rs200697179
|
|
NM_001126108.2(SLC12A3):c.1930del (p.Gln644fs)
|
rs779215330
|
|
NM_001126108.2(SLC12A3):c.1967del (p.Pro656fs)
|
|
|
NM_001126108.2(SLC12A3):c.1999del (p.Arg667fs)
|
|
|
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs)
|
rs750710315
|
|
NM_001126108.2(SLC12A3):c.2129C>A (p.Ser710Ter)
|
|
|
NM_001126108.2(SLC12A3):c.2131del (p.Asp711fs)
|
|
|
NM_001126108.2(SLC12A3):c.2143G>T (p.Glu715Ter)
|
rs766585725
|
|
NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg)
|
rs2144733006
|
|
NM_001126108.2(SLC12A3):c.2223_2224del (p.Phe742fs)
|
|
|
NM_001126108.2(SLC12A3):c.2239C>T (p.Gln747Ter)
|
rs2055341736
|
|
NM_001126108.2(SLC12A3):c.2269del (p.Tyr757fs)
|
rs2144733156
|
|
NM_001126108.2(SLC12A3):c.2276del (p.Gly759fs)
|
rs1182653117
|
|
NM_001126108.2(SLC12A3):c.2285+1del
|
|
|
NM_001126108.2(SLC12A3):c.2379dup (p.Phe794fs)
|
rs767710222
|
|
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs)
|
rs780299444
|
|
NM_001126108.2(SLC12A3):c.2419+13C>A
|
|
|
NM_001126108.2(SLC12A3):c.2420T>A (p.Val807Glu)
|
rs759039589
|
|
NM_001126108.2(SLC12A3):c.2449C>T (p.Gln817Ter)
|
|
|
NM_001126108.2(SLC12A3):c.2467C>T (p.Gln823Ter)
|
|
|
NM_001126108.2(SLC12A3):c.2504G>A (p.Trp835Ter)
|
rs780844229
|
|
NM_001126108.2(SLC12A3):c.2510_2511del (p.Leu836_Phe837insTer)
|
rs2055411543
|
|
NM_001126108.2(SLC12A3):c.2521+253C>T
|
rs940322134
|
|
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs)
|
rs754378340
|
|
NM_001126108.2(SLC12A3):c.2544T>G (p.Tyr848Ter)
|
rs2055435915
|
|
NM_001126108.2(SLC12A3):c.2577C>A (p.Cys859Ter)
|
|
|
NM_001126108.2(SLC12A3):c.2595del (p.Gly866fs)
|
|
|
NM_001126108.2(SLC12A3):c.2615_2633dup (p.Ile879fs)
|
|
|
NM_001126108.2(SLC12A3):c.2633+2T>A
|
|
|
NM_001126108.2(SLC12A3):c.2633+2T>G
|
|
|
NM_001126108.2(SLC12A3):c.2679_2691del (p.His894fs)
|
|
|
NM_001126108.2(SLC12A3):c.268C>T (p.His90Tyr)
|
rs1596883431
|
|
NM_001126108.2(SLC12A3):c.2720+1G>C
|
rs1347239469
|
|
NM_001126108.2(SLC12A3):c.2794G>T (p.Glu932Ter)
|
rs1257717478
|
|
NM_001126108.2(SLC12A3):c.2800C>T (p.Arg934Trp)
|
|
|
NM_001126108.2(SLC12A3):c.2811C>A (p.Cys937Ter)
|
|
|
NM_001126108.2(SLC12A3):c.2815del (p.Trp939fs)
|
rs2144767026
|
|
NM_001126108.2(SLC12A3):c.2817G>A (p.Trp939Ter)
|
rs760134110
|
|
NM_001126108.2(SLC12A3):c.2818A>T (p.Lys940Ter)
|
|
|
NM_001126108.2(SLC12A3):c.283del (p.Gln95fs)
|
rs1555499234
|
|
NM_001126108.2(SLC12A3):c.2842A>T (p.Lys948Ter)
|
rs1244866304
|
|
NM_001126108.2(SLC12A3):c.2850_2851del (p.Arg950fs)
|
rs746623621
|
|
NM_001126108.2(SLC12A3):c.2856+1G>A
|
rs199974259
|
|
NM_001126108.2(SLC12A3):c.2856+2T>A
|
rs1473511018
|
|
NM_001126108.2(SLC12A3):c.2866C>T (p.Gln956Ter)
|
rs761692493
|
|
NM_001126108.2(SLC12A3):c.2874del (p.Arg958fs)
|
|
|
NM_001126108.2(SLC12A3):c.2900C>T (p.Ser967Phe)
|
rs755475785
|
|
NM_001126108.2(SLC12A3):c.2902C>T (p.Arg968Ter)
|
rs765609579
|
|
NM_001126108.2(SLC12A3):c.2907del (p.Asp969fs)
|
rs1267515400
|
|
NM_001126108.2(SLC12A3):c.2924+1G>A
|
rs2144772551
|
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NM_001126108.2(SLC12A3):c.293_296dup (p.His99fs)
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rs2144682095
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NM_001126108.2(SLC12A3):c.329del (p.Ser110fs)
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rs1294865855
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NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter)
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rs200219778
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NM_001126108.2(SLC12A3):c.342_343dup (p.Asp115fs)
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NM_001126108.2(SLC12A3):c.35dup (p.Asp12fs)
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rs1964322654
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NM_001126108.2(SLC12A3):c.378del (p.Ser126fs)
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NM_001126108.2(SLC12A3):c.390del (p.Glu131fs)
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NM_001126108.2(SLC12A3):c.424dup (p.Val142fs)
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rs1395319276
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NM_001126108.2(SLC12A3):c.433C>T (p.Arg145Cys)
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NM_001126108.2(SLC12A3):c.436del (p.Cys146fs)
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NM_001126108.2(SLC12A3):c.452G>A (p.Trp151Ter)
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NM_001126108.2(SLC12A3):c.466dup (p.Tyr156fs)
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NM_001126108.2(SLC12A3):c.46_47del (p.Cys16fs)
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rs1567423490
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NM_001126108.2(SLC12A3):c.486_489del (p.Ile162fs)
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NM_001126108.2(SLC12A3):c.486_490delinsA (p.Thr163fs)
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NM_001126108.2(SLC12A3):c.506-2A>G
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NM_001126108.2(SLC12A3):c.536T>A (p.Val179Asp)
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NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs)
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rs770513014
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NM_001126108.2(SLC12A3):c.55del (p.Arg19fs)
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rs2144677775
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NM_001126108.2(SLC12A3):c.569C>A (p.Ser190Ter)
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rs2144688604
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NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs)
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rs758683818
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NM_001126108.2(SLC12A3):c.587G>T (p.Gly196Val)
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NM_001126108.2(SLC12A3):c.612C>G (p.Tyr204Ter)
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NM_001126108.2(SLC12A3):c.634G>A (p.Gly212Ser)
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rs1238543321
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NM_001126108.2(SLC12A3):c.671_672del (p.Ala224fs)
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NM_001126108.2(SLC12A3):c.723del (p.Val242fs)
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NM_001126108.2(SLC12A3):c.73del (p.Leu25fs)
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rs1555499123
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NM_001126108.2(SLC12A3):c.741+2T>G
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NM_001126108.2(SLC12A3):c.751del (p.Ala251fs)
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NM_001126108.2(SLC12A3):c.817dup (p.Ala273fs)
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rs2055082369
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NM_001126108.2(SLC12A3):c.823_824dup (p.Leu276fs)
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NM_001126108.2(SLC12A3):c.841_842insA (p.Trp281Ter)
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NM_001126108.2(SLC12A3):c.842G>A (p.Trp281Ter)
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NM_001126108.2(SLC12A3):c.853-1G>A
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NM_001126108.2(SLC12A3):c.871del (p.Val292fs)
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NM_001126108.2(SLC12A3):c.88G>T (p.Glu30Ter)
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rs751675724
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NM_001126108.2(SLC12A3):c.923dup (p.Ser309fs)
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rs2055109918
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NM_001126108.2(SLC12A3):c.933del (p.Asp311fs)
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NM_001126108.2(SLC12A3):c.945del (p.Gly316fs)
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NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)
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rs748920885
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NM_001126108.2(SLC12A3):c.964+1G>A
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rs1596895536
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NM_001126108.2(SLC12A3):c.964+1G>T
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rs1596895536
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NM_001126108.2(SLC12A3):c.976del (p.Val326fs)
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rs1215667472
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