NM_003036.4(SKI):c.2174A>C (p.Glu725Ala)
|
rs747798210
|
0.00019
|
NM_003036.4(SKI):c.2141G>A (p.Arg714His)
|
rs754486257
|
0.00010
|
NM_003036.4(SKI):c.170C>T (p.Ala57Val)
|
rs1389185868
|
0.00008
|
NM_003036.4(SKI):c.242C>A (p.Pro81Gln)
|
rs542659326
|
0.00008
|
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr)
|
rs756553942
|
0.00006
|
NM_003036.4(SKI):c.247C>T (p.Pro83Ser)
|
rs201590284
|
0.00006
|
NM_003036.4(SKI):c.1619C>T (p.Ala540Val)
|
rs764786977
|
0.00004
|
NM_003036.4(SKI):c.1711G>A (p.Val571Met)
|
rs190373826
|
0.00004
|
NM_003036.4(SKI):c.1906C>T (p.Arg636Cys)
|
rs143354709
|
0.00004
|
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser)
|
rs775433131
|
0.00003
|
NM_003036.4(SKI):c.1187A>G (p.His396Arg)
|
rs987527805
|
0.00003
|
NM_003036.4(SKI):c.1426G>A (p.Glu476Lys)
|
rs1553200926
|
0.00003
|
NM_003036.4(SKI):c.142A>C (p.Lys48Gln)
|
rs946543006
|
0.00003
|
NM_003036.4(SKI):c.1573G>A (p.Val525Ile)
|
rs141961299
|
0.00003
|
NM_003036.4(SKI):c.1877A>T (p.Lys626Met)
|
rs774106502
|
0.00003
|
NM_003036.4(SKI):c.188C>T (p.Pro63Leu)
|
rs766569890
|
0.00003
|
NM_003036.4(SKI):c.593C>T (p.Pro198Leu)
|
rs1371410513
|
0.00003
|
NM_003036.4(SKI):c.964C>T (p.Pro322Ser)
|
rs779317743
|
0.00003
|
NM_003036.4(SKI):c.1034C>T (p.Ala345Val)
|
rs201599402
|
0.00002
|
NM_003036.4(SKI):c.1069C>T (p.Arg357Trp)
|
rs370418830
|
0.00002
|
NM_003036.4(SKI):c.1118G>A (p.Arg373His)
|
rs768924434
|
0.00002
|
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr)
|
rs760579911
|
0.00002
|
NM_003036.4(SKI):c.1268C>T (p.Pro423Leu)
|
rs752779978
|
0.00002
|
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe)
|
rs1464178129
|
0.00002
|
NM_003036.4(SKI):c.1480T>A (p.Ser494Thr)
|
rs781304969
|
0.00002
|
NM_003036.4(SKI):c.1654G>A (p.Gly552Ser)
|
rs1010245755
|
0.00002
|
NM_003036.4(SKI):c.190G>A (p.Val64Met)
|
rs754036418
|
0.00002
|
NM_003036.4(SKI):c.625C>A (p.Leu209Met)
|
rs771298442
|
0.00002
|
NM_003036.4(SKI):c.892G>T (p.Ala298Ser)
|
rs769113221
|
0.00002
|
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys)
|
rs767730615
|
0.00002
|
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)
|
rs200874294
|
0.00001
|
NM_003036.4(SKI):c.1117C>T (p.Arg373Cys)
|
rs749507746
|
0.00001
|
NM_003036.4(SKI):c.116C>T (p.Ser39Leu)
|
rs746485528
|
0.00001
|
NM_003036.4(SKI):c.1247C>T (p.Ala416Val)
|
rs775044622
|
0.00001
|
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly)
|
rs368739670
|
0.00001
|
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu)
|
rs768068601
|
0.00001
|
NM_003036.4(SKI):c.1330G>A (p.Glu444Lys)
|
rs747693633
|
0.00001
|
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr)
|
rs1325458157
|
0.00001
|
NM_003036.4(SKI):c.1411G>T (p.Val471Leu)
|
rs745717087
|
0.00001
|
NM_003036.4(SKI):c.1417G>A (p.Ala473Thr)
|
rs371772366
|
0.00001
|
NM_003036.4(SKI):c.1474+1G>A
|
rs112549942
|
0.00001
|
NM_003036.4(SKI):c.149A>T (p.Glu50Val)
|
rs1158589836
|
0.00001
|
NM_003036.4(SKI):c.1739C>T (p.Ala580Val)
|
rs1397350089
|
0.00001
|
NM_003036.4(SKI):c.2040C>G (p.Asp680Glu)
|
rs557791923
|
0.00001
|
NM_003036.4(SKI):c.2084G>A (p.Arg695Gln)
|
rs1038419071
|
0.00001
|
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg)
|
rs863223728
|
0.00001
|
NM_003036.4(SKI):c.2168C>A (p.Ala723Asp)
|
rs1264586139
|
0.00001
|
NM_003036.4(SKI):c.293C>T (p.Thr98Ile)
|
rs1257955729
|
0.00001
|
NM_003036.4(SKI):c.435G>C (p.Glu145Asp)
|
rs1221007732
|
0.00001
|
NM_003036.4(SKI):c.464C>G (p.Ala155Gly)
|
rs559020511
|
0.00001
|
NM_003036.4(SKI):c.562G>A (p.Ala188Thr)
|
rs377092419
|
0.00001
|
NM_003036.4(SKI):c.919G>A (p.Val307Met)
|
rs775192483
|
0.00001
|
NM_003036.4(SKI):c.925G>A (p.Glu309Lys)
|
rs1553190080
|
0.00001
|
NM_003036.4(SKI):c.986C>T (p.Pro329Leu)
|
rs1407167491
|
0.00001
|
NM_003036.4(SKI):c.1054C>A (p.Pro352Thr)
|
rs755862763
|
|
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)
|
|
|
NM_003036.4(SKI):c.1061G>T (p.Ser354Ile)
|
|
|
NM_003036.4(SKI):c.1076T>C (p.Leu359Ser)
|
|
|
NM_003036.4(SKI):c.1087T>A (p.Ser363Thr)
|
|
|
NM_003036.4(SKI):c.1094A>G (p.Lys365Arg)
|
|
|
NM_003036.4(SKI):c.1129T>G (p.Ser377Ala)
|
|
|
NM_003036.4(SKI):c.1166G>T (p.Ser389Ile)
|
|
|
NM_003036.4(SKI):c.1177C>A (p.Leu393Ile)
|
|
|
NM_003036.4(SKI):c.1184C>G (p.Pro395Arg)
|
|
|
NM_003036.4(SKI):c.1189C>G (p.Leu397Val)
|
|
|
NM_003036.4(SKI):c.1204C>G (p.Arg402Gly)
|
|
|
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)
|
rs557289756
|
|
NM_003036.4(SKI):c.1297C>T (p.Pro433Ser)
|
|
|
NM_003036.4(SKI):c.1307C>T (p.Ala436Val)
|
|
|
NM_003036.4(SKI):c.1315G>T (p.Val439Phe)
|
rs575093513
|
|
NM_003036.4(SKI):c.131A>T (p.Gln44Leu)
|
|
|
NM_003036.4(SKI):c.1322G>A (p.Arg441Gln)
|
|
|
NM_003036.4(SKI):c.1325C>T (p.Ala442Val)
|
|
|
NM_003036.4(SKI):c.1327C>G (p.Pro443Ala)
|
rs1569860183
|
|
NM_003036.4(SKI):c.1357C>G (p.Arg453Gly)
|
|
|
NM_003036.4(SKI):c.1373C>T (p.Thr458Ile)
|
|
|
NM_003036.4(SKI):c.1391C>T (p.Ala464Val)
|
|
|
NM_003036.4(SKI):c.1398G>T (p.Glu466Asp)
|
|
|
NM_003036.4(SKI):c.139T>C (p.Tyr47His)
|
|
|
NM_003036.4(SKI):c.1415C>T (p.Ala472Val)
|
|
|
NM_003036.4(SKI):c.1418C>T (p.Ala473Val)
|
rs1198385228
|
|
NM_003036.4(SKI):c.1424A>G (p.Glu475Gly)
|
|
|
NM_003036.4(SKI):c.1427A>C (p.Glu476Ala)
|
|
|
NM_003036.4(SKI):c.1433A>G (p.Lys478Arg)
|
|
|
NM_003036.4(SKI):c.1439CGGAGG[1] (p.Ala482_Glu483del)
|
rs762410895
|
|
NM_003036.4(SKI):c.1450G>A (p.Val484Met)
|
|
|
NM_003036.4(SKI):c.1487T>C (p.Leu496Ser)
|
|
|
NM_003036.4(SKI):c.1493C>T (p.Ser498Leu)
|
|
|
NM_003036.4(SKI):c.1528G>T (p.Ala510Ser)
|
|
|
NM_003036.4(SKI):c.152G>A (p.Ser51Asn)
|
|
|
NM_003036.4(SKI):c.154G>T (p.Ala52Ser)
|
|
|
NM_003036.4(SKI):c.155C>T (p.Ala52Val)
|
|
|
NM_003036.4(SKI):c.1565C>T (p.Pro522Leu)
|
|
|
NM_003036.4(SKI):c.1589C>T (p.Ala530Val)
|
|
|
NM_003036.4(SKI):c.1597G>A (p.Asp533Asn)
|
|
|
NM_003036.4(SKI):c.1627G>A (p.Glu543Lys)
|
|
|
NM_003036.4(SKI):c.1628A>G (p.Glu543Gly)
|
|
|
NM_003036.4(SKI):c.1630C>T (p.His544Tyr)
|
|
|
NM_003036.4(SKI):c.1651G>T (p.Gly551Cys)
|
rs1225179301
|
|
NM_003036.4(SKI):c.1687C>G (p.Leu563Val)
|
|
|
NM_003036.4(SKI):c.1705A>G (p.Met569Val)
|
|
|
NM_003036.4(SKI):c.1706T>C (p.Met569Thr)
|
|
|
NM_003036.4(SKI):c.1709G>A (p.Arg570His)
|
|
|
NM_003036.4(SKI):c.1719G>T (p.Gln573His)
|
|
|
NM_003036.4(SKI):c.1741C>G (p.Leu581Val)
|
|
|
NM_003036.4(SKI):c.1753C>T (p.Arg585Cys)
|
|
|
NM_003036.4(SKI):c.1754G>A (p.Arg585His)
|
rs1251950898
|
|
NM_003036.4(SKI):c.1786G>C (p.Val596Leu)
|
|
|
NM_003036.4(SKI):c.1861G>A (p.Ala621Thr)
|
|
|
NM_003036.4(SKI):c.1866G>C (p.Glu622Asp)
|
|
|
NM_003036.4(SKI):c.1871AGA[2] (p.Lys626del)
|
rs863223726
|
|
NM_003036.4(SKI):c.1885G>C (p.Glu629Gln)
|
|
|
NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)
|
|
|
NM_003036.4(SKI):c.191T>G (p.Val64Gly)
|
|
|
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly)
|
rs555623960
|
|
NM_003036.4(SKI):c.1955A>G (p.Lys652Arg)
|
|
|
NM_003036.4(SKI):c.1963G>A (p.Glu655Lys)
|
|
|
NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)
|
|
|
NM_003036.4(SKI):c.1996C>G (p.Gln666Glu)
|
|
|
NM_003036.4(SKI):c.2001C>G (p.Ile667Met)
|
|
|
NM_003036.4(SKI):c.2014G>T (p.Val672Leu)
|
|
|
NM_003036.4(SKI):c.2047C>G (p.Gln683Glu)
|
|
|
NM_003036.4(SKI):c.2049_2090del (p.Gln683_Glu696del)
|
|
|
NM_003036.4(SKI):c.2056G>T (p.Ala686Ser)
|
|
|
NM_003036.4(SKI):c.2061C>A (p.Asp687Glu)
|
rs1021794039
|
|
NM_003036.4(SKI):c.2098_2099delinsGT (p.Lys700Val)
|
|
|
NM_003036.4(SKI):c.2140C>G (p.Arg714Gly)
|
|
|
NM_003036.4(SKI):c.217G>T (p.Val73Leu)
|
|
|
NM_003036.4(SKI):c.240GCC[5] (p.Pro84dup)
|
rs746731483
|
|
NM_003036.4(SKI):c.260C>G (p.Pro87Arg)
|
|
|
NM_003036.4(SKI):c.28T>G (p.Cys10Gly)
|
|
|
NM_003036.4(SKI):c.29G>A (p.Cys10Tyr)
|
rs1553189820
|
|
NM_003036.4(SKI):c.304G>A (p.Glu102Lys)
|
rs1638570854
|
|
NM_003036.4(SKI):c.311T>C (p.Val104Ala)
|
rs886039149
|
|
NM_003036.4(SKI):c.316G>C (p.Glu106Gln)
|
|
|
NM_003036.4(SKI):c.318A>T (p.Glu106Asp)
|
|
|
NM_003036.4(SKI):c.320G>A (p.Gly107Asp)
|
|
|
NM_003036.4(SKI):c.328A>G (p.Ile110Val)
|
|
|
NM_003036.4(SKI):c.33C>G (p.Phe11Leu)
|
|
|
NM_003036.4(SKI):c.340G>T (p.Val114Leu)
|
|
|
NM_003036.4(SKI):c.41A>C (p.His14Pro)
|
rs1232615367
|
|
NM_003036.4(SKI):c.46G>A (p.Gly16Arg)
|
|
|
NM_003036.4(SKI):c.539C>T (p.Thr180Met)
|
rs863223722
|
|
NM_003036.4(SKI):c.547G>A (p.Glu183Lys)
|
rs1290478159
|
|
NM_003036.4(SKI):c.560A>G (p.Asn187Ser)
|
|
|
NM_003036.4(SKI):c.581C>A (p.Ala194Asp)
|
rs746882046
|
|
NM_003036.4(SKI):c.592C>T (p.Pro198Ser)
|
|
|
NM_003036.4(SKI):c.601A>C (p.Lys201Gln)
|
|
|
NM_003036.4(SKI):c.605A>C (p.Glu202Ala)
|
rs977288994
|
|
NM_003036.4(SKI):c.623C>T (p.Ala208Val)
|
rs1276237576
|
|
NM_003036.4(SKI):c.637C>G (p.Leu213Val)
|
|
|
NM_003036.4(SKI):c.637C>T (p.Leu213Phe)
|
|
|
NM_003036.4(SKI):c.638T>G (p.Leu213Arg)
|
|
|
NM_003036.4(SKI):c.647G>C (p.Arg216Pro)
|
|
|
NM_003036.4(SKI):c.664C>G (p.His222Asp)
|
rs1553189999
|
|
NM_003036.4(SKI):c.757A>C (p.Met253Leu)
|
|
|
NM_003036.4(SKI):c.827T>A (p.Phe276Tyr)
|
rs1557807366
|
|
NM_003036.4(SKI):c.833C>A (p.Ser278Ter)
|
|
|
NM_003036.4(SKI):c.848C>T (p.Ala283Val)
|
|
|
NM_003036.4(SKI):c.86T>G (p.Met29Arg)
|
|
|
NM_003036.4(SKI):c.877G>A (p.Gly293Ser)
|
|
|
NM_003036.4(SKI):c.898C>T (p.Leu300Phe)
|
rs1569660908
|
|
NM_003036.4(SKI):c.89G>A (p.Ser30Asn)
|
|
|
NM_003036.4(SKI):c.8C>T (p.Ala3Val)
|
rs1553189801
|
|
NM_003036.4(SKI):c.901G>A (p.Gly301Ser)
|
|
|
NM_003036.4(SKI):c.959G>A (p.Arg320Gln)
|
|
|
NM_003036.4(SKI):c.965C>G (p.Pro322Arg)
|
|
|
NM_003036.4(SKI):c.970-3C>T
|
|
|
NM_003036.4(SKI):c.982C>G (p.Pro328Ala)
|
|
|
NM_003036.4(SKI):c.983C>T (p.Pro328Leu)
|
|
|