NM_016203.4(PRKAG2):c.-322T>C
|
rs142348760
|
0.00504
|
NM_016203.4(PRKAG2):c.-40C>T
|
rs148715621
|
0.00503
|
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln)
|
rs564358410
|
0.00006
|
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)
|
rs760826751
|
0.00005
|
NM_016203.4(PRKAG2):c.1679-3C>T
|
rs371543989
|
0.00005
|
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu)
|
rs41317142
|
0.00005
|
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu)
|
rs876657963
|
0.00004
|
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)
|
rs145669999
|
0.00004
|
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu)
|
rs368637364
|
0.00004
|
NM_016203.4(PRKAG2):c.361A>G (p.Met121Val)
|
rs760511236
|
0.00003
|
NM_016203.4(PRKAG2):c.66C>T (p.Gly22=)
|
rs730880971
|
0.00003
|
NM_016203.4(PRKAG2):c.945A>G (p.Val315=)
|
rs759393540
|
0.00003
|
NM_016203.4(PRKAG2):c.1051+3A>G
|
rs376499470
|
0.00002
|
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr)
|
rs377603922
|
0.00002
|
NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu)
|
rs984007665
|
0.00002
|
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile)
|
rs778668093
|
0.00002
|
NM_016203.4(PRKAG2):c.1648A>C (p.Ile550Leu)
|
rs752198913
|
0.00002
|
NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln)
|
rs730880983
|
0.00002
|
NM_016203.4(PRKAG2):c.181C>T (p.Arg61Ter)
|
rs770100112
|
0.00002
|
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu)
|
rs150140412
|
0.00002
|
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)
|
rs145006140
|
0.00002
|
NM_016203.4(PRKAG2):c.1003A>G (p.Met335Val)
|
rs769428744
|
0.00001
|
NM_016203.4(PRKAG2):c.1052-6A>G
|
rs772764664
|
0.00001
|
NM_016203.4(PRKAG2):c.1112T>A (p.Phe371Tyr)
|
rs769892556
|
0.00001
|
NM_016203.4(PRKAG2):c.1172T>C (p.Ile391Thr)
|
rs1425296851
|
0.00001
|
NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln)
|
rs139653890
|
0.00001
|
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)
|
rs758756757
|
0.00001
|
NM_016203.4(PRKAG2):c.1255G>A (p.Ala419Thr)
|
rs373919593
|
0.00001
|
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met)
|
rs760879406
|
0.00001
|
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val)
|
rs370257703
|
0.00001
|
NM_016203.4(PRKAG2):c.131C>T (p.Ala44Val)
|
rs730880984
|
0.00001
|
NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn)
|
rs199863116
|
0.00001
|
NM_016203.4(PRKAG2):c.1361A>G (p.Glu454Gly)
|
rs940818676
|
0.00001
|
NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln)
|
rs730880980
|
0.00001
|
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu)
|
rs373477232
|
0.00001
|
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)
|
rs397517264
|
0.00001
|
NM_016203.4(PRKAG2):c.1438-3C>A
|
rs773864390
|
0.00001
|
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)
|
rs186114650
|
0.00001
|
NM_016203.4(PRKAG2):c.148G>A (p.Gly50Arg)
|
rs1430071393
|
0.00001
|
NM_016203.4(PRKAG2):c.1502G>A (p.Arg501His)
|
rs144077131
|
0.00001
|
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)
|
rs727504337
|
0.00001
|
NM_016203.4(PRKAG2):c.1529A>G (p.Lys510Arg)
|
rs370899599
|
0.00001
|
NM_016203.4(PRKAG2):c.161G>A (p.Gly54Asp)
|
rs878855019
|
0.00001
|
NM_016203.4(PRKAG2):c.1655A>G (p.Gln552Arg)
|
rs1335765564
|
0.00001
|
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)
|
rs397517267
|
0.00001
|
NM_016203.4(PRKAG2):c.186+7C>T
|
rs886062102
|
0.00001
|
NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn)
|
rs369687307
|
0.00001
|
NM_016203.4(PRKAG2):c.187-3C>T
|
rs972389122
|
0.00001
|
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)
|
rs730880970
|
0.00001
|
NM_016203.4(PRKAG2):c.262C>A (p.Pro88Thr)
|
rs1300640443
|
0.00001
|
NM_016203.4(PRKAG2):c.275C>A (p.Pro92His)
|
rs375398155
|
0.00001
|
NM_016203.4(PRKAG2):c.292A>G (p.Ser98Gly)
|
rs1243030792
|
0.00001
|
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)
|
rs1041124171
|
0.00001
|
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu)
|
rs730880985
|
0.00001
|
NM_016203.4(PRKAG2):c.355C>T (p.Arg119Ter)
|
rs1177945294
|
0.00001
|
NM_016203.4(PRKAG2):c.359G>T (p.Arg120Leu)
|
rs775756069
|
0.00001
|
NM_016203.4(PRKAG2):c.376A>G (p.Ile126Val)
|
rs1379819489
|
0.00001
|
NM_016203.4(PRKAG2):c.382C>T (p.Arg128Cys)
|
rs2076651870
|
0.00001
|
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg)
|
rs779753891
|
0.00001
|
NM_016203.4(PRKAG2):c.40G>C (p.Val14Leu)
|
rs150188173
|
0.00001
|
NM_016203.4(PRKAG2):c.418C>T (p.Pro140Ser)
|
rs755782342
|
0.00001
|
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu)
|
rs397517271
|
0.00001
|
NM_016203.4(PRKAG2):c.466+2T>G
|
rs962806505
|
0.00001
|
NM_016203.4(PRKAG2):c.475C>T (p.Leu159Phe)
|
rs1832795622
|
0.00001
|
NM_016203.4(PRKAG2):c.482C>T (p.Ser161Phe)
|
rs748557485
|
0.00001
|
NM_016203.4(PRKAG2):c.500C>T (p.Thr167Ile)
|
rs766578540
|
0.00001
|
NM_016203.4(PRKAG2):c.515A>C (p.Gln172Pro)
|
rs969117866
|
0.00001
|
NM_016203.4(PRKAG2):c.541A>C (p.Lys181Gln)
|
rs765259437
|
0.00001
|
NM_016203.4(PRKAG2):c.569G>A (p.Arg190His)
|
rs551795395
|
0.00001
|
NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe)
|
rs267601424
|
0.00001
|
NM_016203.4(PRKAG2):c.629A>G (p.Gln210Arg)
|
rs1585679990
|
0.00001
|
NM_016203.4(PRKAG2):c.64G>A (p.Gly22Ser)
|
rs1057524523
|
0.00001
|
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu)
|
rs200181419
|
0.00001
|
NM_016203.4(PRKAG2):c.679A>G (p.Lys227Glu)
|
rs766460601
|
0.00001
|
NM_016203.4(PRKAG2):c.684C>T (p.Ala228=)
|
rs151108625
|
0.00001
|
NM_016203.4(PRKAG2):c.755-1G>A
|
rs778614872
|
0.00001
|
NM_016203.4(PRKAG2):c.979C>G (p.Leu327Val)
|
rs730880988
|
0.00001
|
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)
|
rs775005432
|
0.00001
|
NC_000007.13:g.(?_151252200)_(151575316_?)del
|
|
|
NC_000007.13:g.(?_151252200)_(151575316_?)dup
|
|
|
NC_000007.13:g.(?_151254277)_(151254328_?)del
|
|
|
NC_000007.13:g.(?_151254287)_(151273558_?)dup
|
|
|
NC_000007.13:g.(?_151267237)_(151273558_?)dup
|
|
|
NC_000007.13:g.(?_151292411)_(151292560_?)dup
|
|
|
NC_000007.13:g.(?_151372486)_(151372743_?)del
|
|
|
NC_000007.13:g.(?_151372486)_(151372743_?)dup
|
|
|
NC_000007.13:g.(?_151478218)_(151483647_?)del
|
|
|
NC_000007.13:g.(?_151478218)_(151573705_?)dup
|
|
|
NC_000007.13:g.(?_151478228)_(151573715_?)dup
|
|
|
NC_000007.13:g.(?_151573572)_(151573705_?)dup
|
|
|
NC_000007.13:g.(?_151573582)_(151573715_?)dup
|
|
|
NM_016203.3(PRKAG2):c.-517G>T
|
rs886062107
|
|
NM_016203.3(PRKAG2):c.1053_1067delGCTTTATTTACAAGA
|
rs1584964948
|
|
NM_016203.4(PRKAG2):c.*1021_*1022delinsGT
|
rs886062094
|
|
NM_016203.4(PRKAG2):c.*1029dup
|
rs1554444891
|
|
NM_016203.4(PRKAG2):c.*1040del
|
rs56898021
|
|
NM_016203.4(PRKAG2):c.*1040dup
|
rs56898021
|
|
NM_016203.4(PRKAG2):c.*1041dup
|
rs886062093
|
|
NM_016203.4(PRKAG2):c.*350C>A
|
rs886062099
|
|
NM_016203.4(PRKAG2):c.*896del
|
rs532079387
|
|
NM_016203.4(PRKAG2):c.-274C>A
|
rs886062104
|
|
NM_016203.4(PRKAG2):c.-351G>A
|
rs886062105
|
|
NM_016203.4(PRKAG2):c.1005+6T>C
|
rs1554464077
|
|
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile)
|
rs727504707
|
|
NM_016203.4(PRKAG2):c.1015T>A (p.Tyr339Asn)
|
rs1807867041
|
|
NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys)
|
rs2151024095
|
|
NM_016203.4(PRKAG2):c.1031A>G (p.His344Arg)
|
rs2151024054
|
|
NM_016203.4(PRKAG2):c.1040A>G (p.Glu347Gly)
|
rs760258924
|
|
NM_016203.4(PRKAG2):c.1049G>A (p.Arg350Lys)
|
rs1330644534
|
|
NM_016203.4(PRKAG2):c.1050G>A (p.Arg350=)
|
rs2151023937
|
|
NM_016203.4(PRKAG2):c.1051+6C>G
|
|
|
NM_016203.4(PRKAG2):c.1051_1051+2dup
|
rs2151023914
|
|
NM_016203.4(PRKAG2):c.1055T>C (p.Leu352Pro)
|
|
|
NM_016203.4(PRKAG2):c.1058A>G (p.Tyr353Cys)
|
rs1554459431
|
|
NM_016203.4(PRKAG2):c.1060T>G (p.Leu354Val)
|
rs1554459423
|
|
NM_016203.4(PRKAG2):c.1070C>T (p.Thr357Ile)
|
rs1227002684
|
|
NM_016203.4(PRKAG2):c.107A>G (p.His36Arg)
|
rs2080409943
|
|
NM_016203.4(PRKAG2):c.1100A>G (p.Asp367Gly)
|
rs1807219152
|
|
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser)
|
rs769212614
|
|
NM_016203.4(PRKAG2):c.1106+4A>C
|
rs912304170
|
|
NM_016203.4(PRKAG2):c.1107-3C>T
|
rs2151008803
|
|
NM_016203.4(PRKAG2):c.1108C>T (p.Leu370Phe)
|
|
|
NM_016203.4(PRKAG2):c.1114G>C (p.Asp372His)
|
rs760826751
|
|
NM_016203.4(PRKAG2):c.114+3G>A
|
rs2151920361
|
|
NM_016203.4(PRKAG2):c.114G>C (p.Pro38=)
|
rs397517261
|
|
NM_016203.4(PRKAG2):c.1164T>G (p.Ile388Met)
|
|
|
NM_016203.4(PRKAG2):c.1169C>T (p.Pro390Leu)
|
rs2151008453
|
|
NM_016203.4(PRKAG2):c.1183G>C (p.Ala395Pro)
|
|
|
NM_016203.4(PRKAG2):c.1184C>T (p.Ala395Val)
|
rs1806859703
|
|
NM_016203.4(PRKAG2):c.1198A>G (p.Thr400Ala)
|
rs1554457901
|
|
NM_016203.4(PRKAG2):c.119T>C (p.Leu40Pro)
|
|
|
NM_016203.4(PRKAG2):c.11C>T (p.Ala4Val)
|
rs2151920498
|
|
NM_016203.4(PRKAG2):c.1233+1G>C
|
|
|
NM_016203.4(PRKAG2):c.1247C>T (p.Pro416Leu)
|
|
|
NM_016203.4(PRKAG2):c.125C>T (p.Ser42Phe)
|
|
|
NM_016203.4(PRKAG2):c.1279G>A (p.Glu427Lys)
|
rs1806121695
|
|
NM_016203.4(PRKAG2):c.1289T>C (p.Ile430Thr)
|
|
|
NM_016203.4(PRKAG2):c.1289T>G (p.Ile430Arg)
|
|
|
NM_016203.4(PRKAG2):c.1294A>G (p.Thr432Ala)
|
rs2150996293
|
|
NM_016203.4(PRKAG2):c.129C>A (p.Phe43Leu)
|
|
|
NM_016203.4(PRKAG2):c.1306A>G (p.Ile436Val)
|
|
|
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly)
|
rs762111172
|
|
NM_016203.4(PRKAG2):c.1319A>G (p.His440Arg)
|
rs1806111411
|
|
NM_016203.4(PRKAG2):c.1333A>G (p.Ile445Val)
|
rs1344209675
|
|
NM_016203.4(PRKAG2):c.1337T>G (p.Ile446Ser)
|
rs1554455087
|
|
NM_016203.4(PRKAG2):c.1340A>G (p.Lys447Arg)
|
|
|
NM_016203.4(PRKAG2):c.134T>A (p.Met45Lys)
|
|
|
NM_016203.4(PRKAG2):c.1355T>C (p.Phe452Ser)
|
|
|
NM_016203.4(PRKAG2):c.1358T>C (p.Val453Ala)
|
|
|
NM_016203.4(PRKAG2):c.1366C>G (p.Arg456Gly)
|
rs779098740
|
|
NM_016203.4(PRKAG2):c.1378C>G (p.Leu460Val)
|
rs878855018
|
|
NM_016203.4(PRKAG2):c.1392T>A (p.Asp464Glu)
|
rs2150995495
|
|
NM_016203.4(PRKAG2):c.1393G>A (p.Glu465Lys)
|
|
|
NM_016203.4(PRKAG2):c.1395_1396del (p.Glu465fs)
|
|
|
NM_016203.4(PRKAG2):c.1407_1408delinsGA (p.Val470Ile)
|
rs1806009426
|
|
NM_016203.4(PRKAG2):c.1420T>G (p.Ser474Ala)
|
rs1806007620
|
|
NM_016203.4(PRKAG2):c.1436T>C (p.Ile479Thr)
|
rs1806004431
|
|
NM_016203.4(PRKAG2):c.1437+6T>C
|
|
|
NM_016203.4(PRKAG2):c.1444G>A (p.Ala482Thr)
|
rs2150988951
|
|
NM_016203.4(PRKAG2):c.145G>A (p.Asp49Asn)
|
|
|
NM_016203.4(PRKAG2):c.1460A>G (p.Tyr487Cys)
|
rs1805709675
|
|
NM_016203.4(PRKAG2):c.1466del (p.Asn489fs)
|
rs1584934953
|
|
NM_016203.4(PRKAG2):c.1471G>C (p.Asp491His)
|
rs730880981
|
|
NM_016203.4(PRKAG2):c.1472A>G (p.Asp491Gly)
|
|
|
NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu)
|
rs761196275
|
|
NM_016203.4(PRKAG2):c.1480G>T (p.Val494Leu)
|
|
|
NM_016203.4(PRKAG2):c.1498C>T (p.His500Tyr)
|
rs1584934806
|
|
NM_016203.4(PRKAG2):c.1534A>C (p.Asn512His)
|
|
|
NM_016203.4(PRKAG2):c.1535A>G (p.Asn512Ser)
|
rs766113743
|
|
NM_016203.4(PRKAG2):c.1535A>T (p.Asn512Ile)
|
rs766113743
|
|
NM_016203.4(PRKAG2):c.1545A>T (p.Glu515Asp)
|
rs2150988575
|
|
NM_016203.4(PRKAG2):c.154C>G (p.Leu52Val)
|
|
|
NM_016203.4(PRKAG2):c.1555A>G (p.Thr519Ala)
|
rs1060503024
|
|
NM_016203.4(PRKAG2):c.1564G>A (p.Asp522Asn)
|
rs199985555
|
|
NM_016203.4(PRKAG2):c.1565A>G (p.Asp522Gly)
|
rs2150988481
|
|
NM_016203.4(PRKAG2):c.1571T>G (p.Ile524Arg)
|
rs1563141020
|
|
NM_016203.4(PRKAG2):c.1574T>A (p.Val525Glu)
|
|
|
NM_016203.4(PRKAG2):c.157G>A (p.Glu53Lys)
|
|
|
NM_016203.4(PRKAG2):c.1584+3G>A
|
|
|
NM_016203.4(PRKAG2):c.1603G>A (p.Val535Ile)
|
|
|
NM_016203.4(PRKAG2):c.1615G>A (p.Asp539Asn)
|
rs1804709862
|
|
NM_016203.4(PRKAG2):c.1625T>C (p.Val542Ala)
|
|
|
NM_016203.4(PRKAG2):c.1631T>C (p.Ile544Thr)
|
rs1804703888
|
|
NM_016203.4(PRKAG2):c.1639C>G (p.Leu547Val)
|
|
|
NM_016203.4(PRKAG2):c.1642T>A (p.Ser548Thr)
|
rs267606979
|
|
NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro)
|
rs267606979
|
|
NM_016203.4(PRKAG2):c.1663A>T (p.Ile555Phe)
|
rs1563131128
|
|
NM_016203.4(PRKAG2):c.1666C>G (p.Leu556Val)
|
|
|
NM_016203.4(PRKAG2):c.1678+5A>G
|
rs1804692531
|
|
NM_016203.4(PRKAG2):c.1679-1G>A
|
rs1563120287
|
|
NM_016203.4(PRKAG2):c.1681G>A (p.Ala561Thr)
|
rs61744760
|
|
NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro)
|
rs61744760
|
|
NM_016203.4(PRKAG2):c.1705G>A (p.Glu569Lys)
|
rs730880983
|
|
NM_016203.4(PRKAG2):c.1708T>G (p.Ter570Gly)
|
rs2150957786
|
|
NM_016203.4(PRKAG2):c.182G>T (p.Arg61Leu)
|
|
|
NM_016203.4(PRKAG2):c.186+3A>G
|
|
|
NM_016203.4(PRKAG2):c.186+4A>C
|
|
|
NM_016203.4(PRKAG2):c.187G>A (p.Val63Met)
|
rs1288414866
|
|
NM_016203.4(PRKAG2):c.196C>T (p.Pro66Ser)
|
rs764915841
|
|
NM_016203.4(PRKAG2):c.1A>G (p.Met1Val)
|
|
|
NM_016203.4(PRKAG2):c.211A>C (p.Ser71Arg)
|
rs2151803809
|
|
NM_016203.4(PRKAG2):c.224G>A (p.Gly75Glu)
|
rs199963585
|
|
NM_016203.4(PRKAG2):c.233_234insTCC (p.Ser78_Arg79insPro)
|
|
|
NM_016203.4(PRKAG2):c.235A>G (p.Arg79Gly)
|
|
|
NM_016203.4(PRKAG2):c.238G>A (p.Gly80Ser)
|
|
|
NM_016203.4(PRKAG2):c.245A>G (p.Gln82Arg)
|
rs368871685
|
|
NM_016203.4(PRKAG2):c.254C>A (p.Pro85His)
|
|
|
NM_016203.4(PRKAG2):c.254C>T (p.Pro85Leu)
|
|
|
NM_016203.4(PRKAG2):c.263C>T (p.Pro88Leu)
|
|
|
NM_016203.4(PRKAG2):c.269C>T (p.Ser90Phe)
|
rs2076657636
|
|
NM_016203.4(PRKAG2):c.26A>T (p.Lys9Met)
|
rs574029693
|
|
NM_016203.4(PRKAG2):c.314T>C (p.Val105Ala)
|
|
|
NM_016203.4(PRKAG2):c.326_328del (p.Ser109del)
|
rs2076654551
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|
NM_016203.4(PRKAG2):c.32A>T (p.Lys11Ile)
|
rs1060503025
|
|
NM_016203.4(PRKAG2):c.331C>G (p.Gln111Glu)
|
|
|
NM_016203.4(PRKAG2):c.335A>G (p.Glu112Gly)
|
rs1563659108
|
|
NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg)
|
rs375174733
|
|
NM_016203.4(PRKAG2):c.352C>T (p.Pro118Ser)
|
rs1554596200
|
|
NM_016203.4(PRKAG2):c.358C>T (p.Arg120Cys)
|
rs763144065
|
|
NM_016203.4(PRKAG2):c.359G>C (p.Arg120Pro)
|
rs775756069
|
|
NM_016203.4(PRKAG2):c.386C>T (p.Ser129Phe)
|
rs2151803284
|
|
NM_016203.4(PRKAG2):c.388del (p.Ser130fs)
|
|
|
NM_016203.4(PRKAG2):c.392C>T (p.Ser131Phe)
|
|
|
NM_016203.4(PRKAG2):c.406C>T (p.Pro136Ser)
|
rs1386603764
|
|
NM_016203.4(PRKAG2):c.416A>G (p.Asn139Ser)
|
rs1042047141
|
|
NM_016203.4(PRKAG2):c.424A>G (p.Thr142Ala)
|
rs2076650288
|
|
NM_016203.4(PRKAG2):c.43T>C (p.Ser15Pro)
|
rs1563775284
|
|
NM_016203.4(PRKAG2):c.44C>T (p.Ser15Phe)
|
|
|
NM_016203.4(PRKAG2):c.458C>G (p.Ser153Cys)
|
rs1586486518
|
|
NM_016203.4(PRKAG2):c.466+18T>C
|
|
|
NM_016203.4(PRKAG2):c.466+1G>A
|
rs1563658309
|
|
NM_016203.4(PRKAG2):c.466+1G>C
|
|
|
NM_016203.4(PRKAG2):c.466+6A>G
|
rs2076648193
|
|
NM_016203.4(PRKAG2):c.467-2A>T
|
rs1554531076
|
|
NM_016203.4(PRKAG2):c.469_471dup (p.Ser157dup)
|
rs1832797348
|
|
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp)
|
rs1832796232
|
|
NM_016203.4(PRKAG2):c.477CTC[2] (p.Ser162del)
|
rs1002236859
|
|
NM_016203.4(PRKAG2):c.485C>T (p.Ser162Phe)
|
rs779526669
|
|
NM_016203.4(PRKAG2):c.496C>T (p.Pro166Ser)
|
|
|
NM_016203.4(PRKAG2):c.52G>T (p.Gly18Cys)
|
|
|
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys)
|
rs397517273
|
|
NM_016203.4(PRKAG2):c.53del (p.Gly18fs)
|
|
|
NM_016203.4(PRKAG2):c.547G>C (p.Glu183Gln)
|
rs1131692281
|
|
NM_016203.4(PRKAG2):c.550C>G (p.Pro184Ala)
|
rs545533727
|
|
NM_016203.4(PRKAG2):c.557G>T (p.Arg186Leu)
|
rs145006140
|
|
NM_016203.4(PRKAG2):c.562G>A (p.Glu188Lys)
|
rs772303730
|
|
NM_016203.4(PRKAG2):c.562G>C (p.Glu188Gln)
|
rs772303730
|
|
NM_016203.4(PRKAG2):c.566A>G (p.Asn189Ser)
|
rs2151477098
|
|
NM_016203.4(PRKAG2):c.568C>A (p.Arg190Ser)
|
rs202200501
|
|
NM_016203.4(PRKAG2):c.568C>T (p.Arg190Cys)
|
|
|
NM_016203.4(PRKAG2):c.569G>T (p.Arg190Leu)
|
rs551795395
|
|
NM_016203.4(PRKAG2):c.583T>G (p.Ser195Ala)
|
rs2151477004
|
|
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg)
|
rs368637364
|
|
NM_016203.4(PRKAG2):c.593del (p.Pro198fs)
|
|
|
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs)
|
rs397517275
|
|
NM_016203.4(PRKAG2):c.602G>A (p.Gly201Glu)
|
rs1554530705
|
|
NM_016203.4(PRKAG2):c.619_636del (p.Ser207_Pro212del)
|
rs2151476689
|
|
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys)
|
rs397517277
|
|
NM_016203.4(PRKAG2):c.622T>A (p.Ser208Thr)
|
rs1554530665
|
|
NM_016203.4(PRKAG2):c.638C>T (p.Thr213Ile)
|
|
|
NM_016203.4(PRKAG2):c.641G>A (p.Arg214Lys)
|
rs781267213
|
|
NM_016203.4(PRKAG2):c.661A>G (p.Thr221Ala)
|
rs1832761436
|
|
NM_016203.4(PRKAG2):c.665A>G (p.His222Arg)
|
rs1289045435
|
|
NM_016203.4(PRKAG2):c.665A>T (p.His222Leu)
|
|
|
NM_016203.4(PRKAG2):c.670G>A (p.Ala224Thr)
|
|
|
NM_016203.4(PRKAG2):c.682G>T (p.Ala228Ser)
|
rs2151476444
|
|
NM_016203.4(PRKAG2):c.684+1G>C
|
|
|
NM_016203.4(PRKAG2):c.758T>C (p.Val253Ala)
|
|
|
NM_016203.4(PRKAG2):c.778_781dup (p.Tyr261fs)
|
rs1585114507
|
|
NM_016203.4(PRKAG2):c.785T>C (p.Met262Thr)
|
|
|
NM_016203.4(PRKAG2):c.787C>A (p.Arg263=)
|
rs886062100
|
|
NM_016203.4(PRKAG2):c.788G>A (p.Arg263Gln)
|
|
|
NM_016203.4(PRKAG2):c.813T>A (p.Tyr271Ter)
|
rs1814236823
|
|
NM_016203.4(PRKAG2):c.815A>C (p.Asp272Ala)
|
|
|
NM_016203.4(PRKAG2):c.83A>G (p.Gln28Arg)
|
rs1164114205
|
|
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)
|
rs397517282
|
|
NM_016203.4(PRKAG2):c.865G>C (p.Val289Leu)
|
rs397517282
|
|
NM_016203.4(PRKAG2):c.870_876del (p.Lys290fs)
|
|
|
NM_016203.4(PRKAG2):c.893C>T (p.Ala298Val)
|
rs730880976
|
|
NM_016203.4(PRKAG2):c.896A>G (p.Asn299Ser)
|
|
|
NM_016203.4(PRKAG2):c.898G>A (p.Gly300Ser)
|
|
|
NM_016203.4(PRKAG2):c.8G>A (p.Ser3Asn)
|
|
|
NM_016203.4(PRKAG2):c.911C>G (p.Ala304Gly)
|
rs1808933429
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
NM_016203.4(PRKAG2):c.91C>G (p.Arg31Gly)
|
|
|
NM_016203.4(PRKAG2):c.928A>G (p.Lys310Glu)
|
|
|
NM_016203.4(PRKAG2):c.933dup (p.Gln312fs)
|
rs2151042865
|
|
NM_016203.4(PRKAG2):c.934C>T (p.Gln312Ter)
|
|
|
NM_016203.4(PRKAG2):c.947-19_947-18del
|
|
|
NM_016203.4(PRKAG2):c.947-22_947-6dup
|
rs1808529942
|
|
NM_016203.4(PRKAG2):c.947G>A (p.Gly316Glu)
|
|
|
NM_016203.4(PRKAG2):c.967T>G (p.Phe323Val)
|
rs397517283
|
|
NM_016203.4(PRKAG2):c.968T>G (p.Phe323Cys)
|
rs730880977
|
|
NM_016203.4(PRKAG2):c.970A>G (p.Ile324Val)
|
|
|
NM_016203.4(PRKAG2):c.978A>G (p.Ile326Met)
|
rs1060503023
|
|
NM_016203.4(PRKAG2):c.991T>C (p.Tyr331His)
|
|
|