NM_139318.5(KCNH5):c.685G>A (p.Ala229Thr)
|
rs200308580
|
0.00010
|
NM_139318.5(KCNH5):c.2884C>T (p.Pro962Ser)
|
rs202223175
|
0.00007
|
NM_139318.5(KCNH5):c.2489A>G (p.Asn830Ser)
|
rs151103620
|
0.00006
|
NM_139318.5(KCNH5):c.2534A>G (p.Lys845Arg)
|
rs1189342324
|
0.00006
|
NM_139318.5(KCNH5):c.440C>T (p.Thr147Met)
|
rs180894715
|
0.00006
|
NM_139318.5(KCNH5):c.1003G>A (p.Ala335Thr)
|
rs376158544
|
0.00004
|
NM_139318.5(KCNH5):c.1346C>T (p.Ser449Leu)
|
rs369774413
|
0.00004
|
NM_139318.5(KCNH5):c.1666G>A (p.Asp556Asn)
|
rs150842380
|
0.00004
|
NM_139318.5(KCNH5):c.1694A>G (p.Glu565Gly)
|
rs781050144
|
0.00004
|
NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu)
|
rs761523326
|
0.00004
|
NM_139318.5(KCNH5):c.880G>A (p.Val294Met)
|
rs376026108
|
0.00004
|
NM_139318.5(KCNH5):c.930A>T (p.Glu310Asp)
|
rs201960719
|
0.00004
|
NM_139318.5(KCNH5):c.1339A>G (p.Met447Val)
|
rs200506671
|
0.00003
|
NM_139318.5(KCNH5):c.2438G>A (p.Arg813Gln)
|
rs534607642
|
0.00003
|
NM_139318.5(KCNH5):c.2872C>T (p.Pro958Ser)
|
rs141160972
|
0.00003
|
NM_139318.5(KCNH5):c.817C>T (p.Pro273Ser)
|
rs747654948
|
0.00003
|
NM_139318.5(KCNH5):c.1865C>T (p.Thr622Ile)
|
rs376649352
|
0.00002
|
NM_139318.5(KCNH5):c.1883C>T (p.Ala628Val)
|
rs761541451
|
0.00002
|
NM_139318.5(KCNH5):c.2072G>A (p.Arg691Gln)
|
rs200737420
|
0.00002
|
NM_139318.5(KCNH5):c.2089A>T (p.Thr697Ser)
|
rs544844321
|
0.00002
|
NM_139318.5(KCNH5):c.2842C>T (p.Pro948Ser)
|
rs200587228
|
0.00002
|
NM_139318.5(KCNH5):c.460C>T (p.Arg154Trp)
|
rs745970423
|
0.00002
|
NM_139318.5(KCNH5):c.1196C>T (p.Pro399Leu)
|
rs1447297190
|
0.00001
|
NM_139318.5(KCNH5):c.1427C>G (p.Ala476Gly)
|
rs922788543
|
0.00001
|
NM_139318.5(KCNH5):c.1465C>T (p.Arg489Trp)
|
rs1346595307
|
0.00001
|
NM_139318.5(KCNH5):c.1658T>C (p.Leu553Ser)
|
rs1406117275
|
0.00001
|
NM_139318.5(KCNH5):c.172G>A (p.Val58Ile)
|
rs1057417977
|
0.00001
|
NM_139318.5(KCNH5):c.1886A>T (p.Asn629Ile)
|
rs1204494580
|
0.00001
|
NM_139318.5(KCNH5):c.1931A>G (p.Glu644Gly)
|
rs779052121
|
0.00001
|
NM_139318.5(KCNH5):c.2024T>C (p.Ile675Thr)
|
rs747312358
|
0.00001
|
NM_139318.5(KCNH5):c.2045T>A (p.Val682Glu)
|
rs547160809
|
0.00001
|
NM_139318.5(KCNH5):c.2159G>A (p.Arg720Gln)
|
rs201820912
|
0.00001
|
NM_139318.5(KCNH5):c.2249C>T (p.Thr750Ile)
|
rs1359517285
|
0.00001
|
NM_139318.5(KCNH5):c.2371G>C (p.Asp791His)
|
rs1259994686
|
0.00001
|
NM_139318.5(KCNH5):c.2372A>G (p.Asp791Gly)
|
rs548465461
|
0.00001
|
NM_139318.5(KCNH5):c.2420A>G (p.Asn807Ser)
|
rs770323761
|
0.00001
|
NM_139318.5(KCNH5):c.2488A>G (p.Asn830Asp)
|
rs1445149671
|
0.00001
|
NM_139318.5(KCNH5):c.249A>C (p.Gln83His)
|
rs1051611713
|
0.00001
|
NM_139318.5(KCNH5):c.2686C>T (p.His896Tyr)
|
rs758357872
|
0.00001
|
NM_139318.5(KCNH5):c.2782A>G (p.Met928Val)
|
rs775247224
|
0.00001
|
NM_139318.5(KCNH5):c.2788G>T (p.Ala930Ser)
|
rs202201734
|
0.00001
|
NM_139318.5(KCNH5):c.2837G>A (p.Ser946Asn)
|
rs967009755
|
0.00001
|
NM_139318.5(KCNH5):c.295A>C (p.Lys99Gln)
|
rs780461223
|
0.00001
|
NM_139318.5(KCNH5):c.395C>T (p.Thr132Met)
|
rs765878799
|
0.00001
|
NM_139318.5(KCNH5):c.412A>G (p.Ile138Val)
|
rs934408514
|
0.00001
|
NM_139318.5(KCNH5):c.500C>T (p.Thr167Met)
|
rs771253745
|
0.00001
|
NM_139318.5(KCNH5):c.550G>A (p.Val184Ile)
|
rs752609494
|
0.00001
|
NM_139318.5(KCNH5):c.942+5G>A
|
rs1265529041
|
0.00001
|
NM_139318.5(KCNH5):c.988C>T (p.Arg330Ter)
|
rs767049623
|
0.00001
|
NC_000014.8:g.(?_63174206)_(63269319_?)del
|
|
|
NC_000014.8:g.(?_63511812)_(63511904_?)dup
|
|
|
NC_000014.8:g.(?_63511812)_(63511924_?)dup
|
|
|
NM_139318.5(KCNH5):c.1034G>C (p.Gly345Ala)
|
|
|
NM_139318.5(KCNH5):c.106G>C (p.Val36Leu)
|
rs138796167
|
|
NM_139318.5(KCNH5):c.1086G>T (p.Trp362Cys)
|
|
|
NM_139318.5(KCNH5):c.1087C>G (p.Leu363Val)
|
rs2140130561
|
|
NM_139318.5(KCNH5):c.1096A>G (p.Ile366Val)
|
|
|
NM_139318.5(KCNH5):c.1111G>A (p.Gly371Arg)
|
|
|
NM_139318.5(KCNH5):c.1123G>A (p.Val375Ile)
|
|
|
NM_139318.5(KCNH5):c.1127T>A (p.Ile376Asn)
|
|
|
NM_139318.5(KCNH5):c.1144A>G (p.Thr382Ala)
|
|
|
NM_139318.5(KCNH5):c.115C>T (p.Pro39Ser)
|
|
|
NM_139318.5(KCNH5):c.1186A>T (p.Ile396Phe)
|
rs1889976030
|
|
NM_139318.5(KCNH5):c.1187T>C (p.Ile396Thr)
|
|
|
NM_139318.5(KCNH5):c.1199A>G (p.Tyr400Cys)
|
rs2140130437
|
|
NM_139318.5(KCNH5):c.1220G>C (p.Gly407Ala)
|
rs1889974797
|
|
NM_139318.5(KCNH5):c.1223T>G (p.Ile408Arg)
|
|
|
NM_139318.5(KCNH5):c.125A>G (p.Tyr42Cys)
|
rs1891337268
|
|
NM_139318.5(KCNH5):c.1280T>C (p.Met427Thr)
|
|
|
NM_139318.5(KCNH5):c.1313_1314del (p.Ile438fs)
|
|
|
NM_139318.5(KCNH5):c.1322C>A (p.Thr441Asn)
|
rs189501067
|
|
NM_139318.5(KCNH5):c.1340T>C (p.Met447Thr)
|
|
|
NM_139318.5(KCNH5):c.1363G>A (p.Val455Ile)
|
rs1224129490
|
|
NM_139318.5(KCNH5):c.1376_1378del (p.Leu459_Tyr460delinsHis)
|
rs2140045667
|
|
NM_139318.5(KCNH5):c.137G>C (p.Gly46Ala)
|
rs756167787
|
|
NM_139318.5(KCNH5):c.137G>T (p.Gly46Val)
|
|
|
NM_139318.5(KCNH5):c.1400T>C (p.Val467Ala)
|
rs1887769181
|
|
NM_139318.5(KCNH5):c.1403C>A (p.Thr468Lys)
|
|
|
NM_139318.5(KCNH5):c.1403CAA[1] (p.Thr469del)
|
rs2140045637
|
|
NM_139318.5(KCNH5):c.1408A>G (p.Ile470Val)
|
|
|
NM_139318.5(KCNH5):c.1415A>G (p.Gln472Arg)
|
|
|
NM_139318.5(KCNH5):c.1439G>A (p.Arg480Gln)
|
|
|
NM_139318.5(KCNH5):c.1448del (p.Glu483fs)
|
rs2140045596
|
|
NM_139318.5(KCNH5):c.1466G>A (p.Arg489Gln)
|
rs1305159522
|
|
NM_139318.5(KCNH5):c.1473C>G (p.Phe491Leu)
|
|
|
NM_139318.5(KCNH5):c.148C>G (p.Leu50Val)
|
|
|
NM_139318.5(KCNH5):c.1577C>T (p.Ser526Phe)
|
rs2140000246
|
|
NM_139318.5(KCNH5):c.1622del (p.Asn541fs)
|
rs2140000165
|
|
NM_139318.5(KCNH5):c.1630G>A (p.Val544Ile)
|
rs1453474750
|
|
NM_139318.5(KCNH5):c.1635T>A (p.Phe545Leu)
|
|
|
NM_139318.5(KCNH5):c.1649C>T (p.Ala550Val)
|
|
|
NM_139318.5(KCNH5):c.1654C>T (p.Arg552Ter)
|
|
|
NM_139318.5(KCNH5):c.1712G>A (p.Cys571Tyr)
|
|
|
NM_139318.5(KCNH5):c.1712G>C (p.Cys571Ser)
|
|
|
NM_139318.5(KCNH5):c.1792A>G (p.Ile598Val)
|
rs1886679317
|
|
NM_139318.5(KCNH5):c.1807del (p.Val603fs)
|
rs2139999944
|
|
NM_139318.5(KCNH5):c.1822+3A>G
|
rs1886679041
|
|
NM_139318.5(KCNH5):c.1822+5T>C
|
|
|
NM_139318.5(KCNH5):c.1871C>G (p.Ala624Gly)
|
rs762614737
|
|
NM_139318.5(KCNH5):c.1876G>A (p.Ala626Thr)
|
|
|
NM_139318.5(KCNH5):c.1885A>G (p.Asn629Asp)
|
|
|
NM_139318.5(KCNH5):c.188G>T (p.Ser63Ile)
|
|
|
NM_139318.5(KCNH5):c.1906T>A (p.Cys636Ser)
|
|
|
NM_139318.5(KCNH5):c.1927C>G (p.Arg643Gly)
|
rs771984476
|
|
NM_139318.5(KCNH5):c.1927C>T (p.Arg643Trp)
|
|
|
NM_139318.5(KCNH5):c.1928G>A (p.Arg643Gln)
|
|
|
NM_139318.5(KCNH5):c.1939C>T (p.Leu647Phe)
|
|
|
NM_139318.5(KCNH5):c.1970C>T (p.Ala657Val)
|
rs143775193
|
|
NM_139318.5(KCNH5):c.1985G>A (p.Arg662Lys)
|
rs1382406226
|
|
NM_139318.5(KCNH5):c.1993A>T (p.Thr665Ser)
|
rs2139975358
|
|
NM_139318.5(KCNH5):c.2006A>G (p.Asn669Ser)
|
|
|
NM_139318.5(KCNH5):c.2018G>A (p.Arg673Gln)
|
|
|
NM_139318.5(KCNH5):c.2019G>A (p.Arg673=)
|
|
|
NM_139318.5(KCNH5):c.2026T>G (p.Phe676Val)
|
|
|
NM_139318.5(KCNH5):c.2029C>G (p.Arg677Gly)
|
|
|
NM_139318.5(KCNH5):c.2029C>T (p.Arg677Cys)
|
|
|
NM_139318.5(KCNH5):c.2030G>T (p.Arg677Leu)
|
|
|
NM_139318.5(KCNH5):c.2039G>T (p.Ser680Ile)
|
|
|
NM_139318.5(KCNH5):c.205T>C (p.Tyr69His)
|
|
|
NM_139318.5(KCNH5):c.2063A>T (p.Glu688Val)
|
|
|
NM_139318.5(KCNH5):c.2068C>G (p.Leu690Val)
|
|
|
NM_139318.5(KCNH5):c.2069T>G (p.Leu690Arg)
|
rs1884490758
|
|
NM_139318.5(KCNH5):c.2071C>T (p.Arg691Trp)
|
rs1313204598
|
|
NM_139318.5(KCNH5):c.2072G>T (p.Arg691Leu)
|
rs200737420
|
|
NM_139318.5(KCNH5):c.2095A>G (p.Ser699Gly)
|
rs1360641528
|
|
NM_139318.5(KCNH5):c.2114C>G (p.Pro705Arg)
|
rs1060502866
|
|
NM_139318.5(KCNH5):c.2138T>A (p.Phe713Tyr)
|
|
|
NM_139318.5(KCNH5):c.2147A>C (p.Gln716Pro)
|
|
|
NM_139318.5(KCNH5):c.2156T>C (p.Leu719Pro)
|
|
|
NM_139318.5(KCNH5):c.2158C>T (p.Arg720Trp)
|
|
|
NM_139318.5(KCNH5):c.2166G>T (p.Gln722His)
|
rs2139899426
|
|
NM_139318.5(KCNH5):c.2178G>C (p.Gln726His)
|
|
|
NM_139318.5(KCNH5):c.2185C>G (p.Pro729Ala)
|
|
|
NM_139318.5(KCNH5):c.2195A>G (p.Asn732Ser)
|
|
|
NM_139318.5(KCNH5):c.2204A>G (p.Gln735Arg)
|
|
|
NM_139318.5(KCNH5):c.2211G>C (p.Glu737Asp)
|
rs1050337000
|
|
NM_139318.5(KCNH5):c.2216G>A (p.Arg739His)
|
|
|
NM_139318.5(KCNH5):c.2227A>G (p.Asn743Asp)
|
|
|
NM_139318.5(KCNH5):c.2245G>A (p.Gly749Arg)
|
|
|
NM_139318.5(KCNH5):c.226A>G (p.Lys76Glu)
|
|
|
NM_139318.5(KCNH5):c.2284C>G (p.Gln762Glu)
|
|
|
NM_139318.5(KCNH5):c.229A>G (p.Thr77Ala)
|
rs1365308454
|
|
NM_139318.5(KCNH5):c.2300A>G (p.Tyr767Cys)
|
|
|
NM_139318.5(KCNH5):c.2303T>G (p.Val768Gly)
|
rs2139899216
|
|
NM_139318.5(KCNH5):c.2321T>C (p.Leu774Pro)
|
|
|
NM_139318.5(KCNH5):c.2341G>A (p.Ala781Thr)
|
rs1595587605
|
|
NM_139318.5(KCNH5):c.2342C>T (p.Ala781Val)
|
|
|
NM_139318.5(KCNH5):c.2344A>G (p.Met782Val)
|
rs1424974763
|
|
NM_139318.5(KCNH5):c.2347G>A (p.Glu783Lys)
|
rs373967609
|
|
NM_139318.5(KCNH5):c.2359A>G (p.Asn787Asp)
|
|
|
NM_139318.5(KCNH5):c.2407A>G (p.Met803Val)
|
rs1884477605
|
|
NM_139318.5(KCNH5):c.2410A>C (p.Lys804Gln)
|
|
|
NM_139318.5(KCNH5):c.2428G>C (p.Gly810Arg)
|
|
|
NM_139318.5(KCNH5):c.2437C>T (p.Arg813Ter)
|
|
|
NM_139318.5(KCNH5):c.2441T>C (p.Leu814Pro)
|
|
|
NM_139318.5(KCNH5):c.2446A>G (p.Asn816Asp)
|
|
|
NM_139318.5(KCNH5):c.2448T>A (p.Asn816Lys)
|
|
|
NM_139318.5(KCNH5):c.2449A>G (p.Asn817Asp)
|
|
|
NM_139318.5(KCNH5):c.2471A>G (p.Lys824Arg)
|
|
|
NM_139318.5(KCNH5):c.2471A>T (p.Lys824Ile)
|
|
|
NM_139318.5(KCNH5):c.247C>T (p.Gln83Ter)
|
|
|
NM_139318.5(KCNH5):c.2481C>A (p.Asp827Glu)
|
|
|
NM_139318.5(KCNH5):c.2494A>C (p.Thr832Pro)
|
|
|
NM_139318.5(KCNH5):c.2509A>G (p.Met837Val)
|
|
|
NM_139318.5(KCNH5):c.2510T>C (p.Met837Thr)
|
|
|
NM_139318.5(KCNH5):c.2535G>C (p.Lys845Asn)
|
|
|
NM_139318.5(KCNH5):c.253T>C (p.Phe85Leu)
|
|
|
NM_139318.5(KCNH5):c.2549A>G (p.Glu850Gly)
|
|
|
NM_139318.5(KCNH5):c.2555G>A (p.Ser852Asn)
|
|
|
NM_139318.5(KCNH5):c.2561C>T (p.Thr854Ile)
|
rs2139898851
|
|
NM_139318.5(KCNH5):c.2584G>C (p.Asp862His)
|
|
|
NM_139318.5(KCNH5):c.2585A>G (p.Asp862Gly)
|
rs1595587388
|
|
NM_139318.5(KCNH5):c.2591G>A (p.Cys864Tyr)
|
rs1595587379
|
|
NM_139318.5(KCNH5):c.2594A>G (p.Asp865Gly)
|
|
|
NM_139318.5(KCNH5):c.259A>C (p.Asn87His)
|
|
|
NM_139318.5(KCNH5):c.2615A>G (p.Asp872Gly)
|
|
|
NM_139318.5(KCNH5):c.2618T>C (p.Leu873Pro)
|
|
|
NM_139318.5(KCNH5):c.2632G>T (p.Ala878Ser)
|
rs376837885
|
|
NM_139318.5(KCNH5):c.2641G>A (p.Ala881Thr)
|
|
|
NM_139318.5(KCNH5):c.2641G>T (p.Ala881Ser)
|
|
|
NM_139318.5(KCNH5):c.2642C>T (p.Ala881Val)
|
rs2139898764
|
|
NM_139318.5(KCNH5):c.2645G>A (p.Arg882Gln)
|
|
|
NM_139318.5(KCNH5):c.265G>C (p.Glu89Gln)
|
rs1162818997
|
|
NM_139318.5(KCNH5):c.2662A>G (p.Ser888Gly)
|
|
|
NM_139318.5(KCNH5):c.2677G>A (p.Asp893Asn)
|
|
|
NM_139318.5(KCNH5):c.2680G>A (p.Ala894Thr)
|
|
|
NM_139318.5(KCNH5):c.2689C>T (p.Pro897Ser)
|
rs1393650655
|
|
NM_139318.5(KCNH5):c.2690C>A (p.Pro897His)
|
|
|
NM_139318.5(KCNH5):c.2704C>G (p.Pro902Ala)
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rs757688048
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NM_139318.5(KCNH5):c.2704C>T (p.Pro902Ser)
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rs757688048
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NM_139318.5(KCNH5):c.2707G>T (p.Glu903Ter)
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NM_139318.5(KCNH5):c.2722A>T (p.Thr908Ser)
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NM_139318.5(KCNH5):c.2725A>C (p.Thr909Pro)
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rs1884466924
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NM_139318.5(KCNH5):c.2734G>A (p.Glu912Lys)
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NM_139318.5(KCNH5):c.2749C>T (p.Leu917Phe)
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NM_139318.5(KCNH5):c.2761A>T (p.Ile921Phe)
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NM_139318.5(KCNH5):c.2786C>G (p.Thr929Ser)
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NM_139318.5(KCNH5):c.2791C>G (p.Leu931Val)
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NM_139318.5(KCNH5):c.2797A>G (p.Lys933Glu)
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NM_139318.5(KCNH5):c.2803G>A (p.Val935Met)
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NM_139318.5(KCNH5):c.2804T>C (p.Val935Ala)
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NM_139318.5(KCNH5):c.2812A>G (p.Ile938Val)
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rs375347137
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NM_139318.5(KCNH5):c.2822T>C (p.Ile941Thr)
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NM_139318.5(KCNH5):c.2825T>C (p.Leu942Pro)
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NM_139318.5(KCNH5):c.2831A>T (p.Glu944Val)
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rs2139898468
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NM_139318.5(KCNH5):c.2833A>G (p.Lys945Glu)
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rs1566633488
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NM_139318.5(KCNH5):c.2846A>C (p.Gln949Pro)
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rs2139898414
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NM_139318.5(KCNH5):c.2855C>T (p.Ser952Phe)
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NM_139318.5(KCNH5):c.2866C>A (p.Gln956Lys)
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NM_139318.5(KCNH5):c.2888C>T (p.Pro963Leu)
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NM_139318.5(KCNH5):c.2890C>G (p.Gln964Glu)
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rs753525158
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NM_139318.5(KCNH5):c.2890del (p.Gln964fs)
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NM_139318.5(KCNH5):c.2921C>G (p.Ser974Ter)
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NM_139318.5(KCNH5):c.2927C>T (p.Pro976Leu)
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rs2139898259
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NM_139318.5(KCNH5):c.2935C>T (p.Pro979Ser)
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NM_139318.5(KCNH5):c.2936C>T (p.Pro979Leu)
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NM_139318.5(KCNH5):c.2942C>T (p.Ser981Phe)
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NM_139318.5(KCNH5):c.294C>G (p.Tyr98Ter)
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NM_139318.5(KCNH5):c.2951A>T (p.Asp984Val)
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rs1566633394
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NM_139318.5(KCNH5):c.2954A>T (p.Glu985Val)
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NM_139318.5(KCNH5):c.304+3A>G
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NM_139318.5(KCNH5):c.304+4G>A
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rs750807814
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NM_139318.5(KCNH5):c.305-3C>T
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rs1249146991
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NM_139318.5(KCNH5):c.318G>T (p.Trp106Cys)
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NM_139318.5(KCNH5):c.323A>G (p.Tyr108Cys)
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rs1464940813
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NM_139318.5(KCNH5):c.330A>G (p.Gln110=)
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NM_139318.5(KCNH5):c.372C>A (p.Phe124Leu)
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NM_139318.5(KCNH5):c.379A>G (p.Thr127Ala)
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NM_139318.5(KCNH5):c.394A>T (p.Thr132Ser)
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NM_139318.5(KCNH5):c.399G>T (p.Leu133Phe)
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NM_139318.5(KCNH5):c.409C>A (p.Pro137Thr)
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NM_139318.5(KCNH5):c.422A>C (p.Asp141Ala)
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rs1891006879
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NM_139318.5(KCNH5):c.433+5T>C
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NM_139318.5(KCNH5):c.433+9_433+10insAACAAAAGGTAATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGG
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NM_139318.5(KCNH5):c.434-2A>C
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rs1890726221
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NM_139318.5(KCNH5):c.463G>A (p.Ala155Thr)
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rs2139575336
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NM_139318.5(KCNH5):c.472A>G (p.Asn158Asp)
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NM_139318.5(KCNH5):c.476G>C (p.Ser159Thr)
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rs759714263
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NM_139318.5(KCNH5):c.478C>T (p.Arg160Ter)
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NM_139318.5(KCNH5):c.479G>A (p.Arg160Gln)
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rs148002630
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NM_139318.5(KCNH5):c.488T>C (p.Leu163Ser)
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rs2139575303
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NM_139318.5(KCNH5):c.491A>G (p.Gln164Arg)
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NM_139318.5(KCNH5):c.505A>G (p.Met169Val)
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NM_139318.5(KCNH5):c.515C>A (p.Thr172Lys)
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NM_139318.5(KCNH5):c.520G>A (p.Val174Met)
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NM_139318.5(KCNH5):c.533A>G (p.His178Arg)
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rs2139575209
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NM_139318.5(KCNH5):c.53A>T (p.Asn18Ile)
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NM_139318.5(KCNH5):c.545C>G (p.Ala182Gly)
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rs2139575198
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NM_139318.5(KCNH5):c.550-1G>C
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NM_139318.5(KCNH5):c.553C>T (p.Leu185Phe)
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rs780855852
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NM_139318.5(KCNH5):c.558G>C (p.Gln186His)
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NM_139318.5(KCNH5):c.566C>G (p.Ser189Ter)
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rs1381625125
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NM_139318.5(KCNH5):c.568dup (p.Asp190fs)
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NM_139318.5(KCNH5):c.581A>G (p.Gln194Arg)
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rs2139568664
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NM_139318.5(KCNH5):c.589C>T (p.Gln197Ter)
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rs1555366656
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NM_139318.5(KCNH5):c.610C>T (p.Pro204Ser)
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rs1165675846
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NM_139318.5(KCNH5):c.611C>T (p.Pro204Leu)
|
rs776842795
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NM_139318.5(KCNH5):c.646A>G (p.Thr216Ala)
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NM_139318.5(KCNH5):c.65G>A (p.Arg22His)
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NM_139318.5(KCNH5):c.665dup (p.Leu222fs)
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rs2139568568
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NM_139318.5(KCNH5):c.68C>T (p.Ser23Phe)
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rs2139638415
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NM_139318.5(KCNH5):c.719C>G (p.Thr240Arg)
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NM_139318.5(KCNH5):c.727A>T (p.Asn243Tyr)
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NM_139318.5(KCNH5):c.731A>G (p.Asn244Ser)
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NM_139318.5(KCNH5):c.748C>A (p.Leu250Met)
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NM_139318.5(KCNH5):c.765C>A (p.Asp255Glu)
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NM_139318.5(KCNH5):c.811G>C (p.Val271Leu)
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NM_139318.5(KCNH5):c.816_817delinsAT (p.Pro273Ser)
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NM_139318.5(KCNH5):c.820G>A (p.Gly274Ser)
|
rs182494425
|
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NM_139318.5(KCNH5):c.844A>G (p.Lys282Glu)
|
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NM_139318.5(KCNH5):c.854G>A (p.Arg285Lys)
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NM_139318.5(KCNH5):c.859A>T (p.Asn287Tyr)
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NM_139318.5(KCNH5):c.908A>G (p.Tyr303Cys)
|
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NM_139318.5(KCNH5):c.912C>G (p.Asp304Glu)
|
|
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NM_139318.5(KCNH5):c.913A>G (p.Ile305Val)
|
rs2139568205
|
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NM_139318.5(KCNH5):c.918C>T (p.Ile306=)
|
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NM_139318.5(KCNH5):c.919A>G (p.Asn307Asp)
|
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NM_139318.5(KCNH5):c.932dup (p.Asn311fs)
|
rs1566729319
|
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NM_139318.5(KCNH5):c.950G>C (p.Ser317Thr)
|
|
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NM_139318.5(KCNH5):c.953G>A (p.Ser318Asn)
|
|
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NM_139318.5(KCNH5):c.987A>T (p.Leu329Phe)
|
rs2140130662
|
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