NM_000817.2(GAD1):c.-397T>G
|
rs375137598
|
0.00402
|
NM_000817.2(GAD1):c.-292C>T
|
rs572158214
|
0.00374
|
NM_000817.2(GAD1):c.-255G>A
|
rs545676026
|
0.00353
|
NM_032756.4(HPDL):c.134T>A (p.Leu45Gln)
|
rs199632752
|
0.00152
|
NM_000817.3(GAD1):c.1173C>T (p.Asn391=)
|
rs34856125
|
0.00094
|
NM_000817.3(GAD1):c.1251C>T (p.Leu417=)
|
rs35426017
|
0.00094
|
NM_000817.3(GAD1):c.807G>A (p.Pro269=)
|
rs34100397
|
0.00094
|
NM_016824.5(ADD3):c.995A>G (p.Asn332Ser)
|
rs41291894
|
0.00076
|
NM_015158.5(KANK1):c.3880G>A (p.Gly1294Ser)
|
rs140893133
|
0.00071
|
NM_000817.3(GAD1):c.1611+5G>A
|
rs147201199
|
0.00070
|
NM_000817.3(GAD1):c.1002+4T>G
|
rs139531653
|
0.00060
|
NM_000817.3(GAD1):c.399T>C (p.Asp133=)
|
rs112737041
|
0.00058
|
NM_015158.5(KANK1):c.3842A>G (p.Glu1281Gly)
|
rs139624364
|
0.00056
|
NM_015158.5(KANK1):c.3130C>T (p.Arg1044Trp)
|
rs150840874
|
0.00049
|
NM_000817.3(GAD1):c.484C>G (p.Pro162Ala)
|
rs145603819
|
0.00045
|
NM_015158.5(KANK1):c.683C>G (p.Ala228Gly)
|
rs138522309
|
0.00041
|
NM_000817.3(GAD1):c.682A>C (p.Ile228Leu)
|
rs45566933
|
0.00040
|
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)
|
rs150983093
|
0.00038
|
NM_000817.3(GAD1):c.*394G>A
|
rs746308188
|
0.00036
|
NM_000817.3(GAD1):c.380A>T (p.Tyr127Phe)
|
rs141004978
|
0.00036
|
NM_015158.5(KANK1):c.2366G>T (p.Gly789Val)
|
rs146130179
|
0.00034
|
NM_000817.3(GAD1):c.1184+17G>A
|
rs180969459
|
0.00033
|
NM_015158.5(KANK1):c.1269G>C (p.Lys423Asn)
|
rs137918238
|
0.00031
|
NM_015158.5(KANK1):c.2261T>G (p.Val754Gly)
|
rs148027754
|
0.00031
|
NM_015158.5(KANK1):c.1216G>A (p.Glu406Lys)
|
rs147714853
|
0.00028
|
NM_000817.3(GAD1):c.-176G>C
|
rs886055095
|
0.00024
|
NM_015158.5(KANK1):c.2342G>C (p.Cys781Ser)
|
rs143675911
|
0.00024
|
NM_000817.2(GAD1):c.-288T>C
|
rs754019434
|
0.00023
|
NM_015158.5(KANK1):c.2063C>T (p.Thr688Met)
|
rs146648084
|
0.00015
|
NM_000021.4(PSEN1):c.*390T>G
|
rs200372973
|
0.00014
|
NM_015158.5(KANK1):c.1652G>A (p.Cys551Tyr)
|
rs370250575
|
0.00013
|
NM_015158.5(KANK1):c.3996G>A (p.Pro1332=)
|
rs115382946
|
0.00013
|
NM_015158.5(KANK1):c.1260G>C (p.Arg420Ser)
|
rs150303132
|
0.00012
|
NM_000817.3(GAD1):c.1120-8C>A
|
rs113638388
|
0.00011
|
NM_000817.3(GAD1):c.269G>A (p.Arg90His)
|
rs372095902
|
0.00011
|
NM_015158.5(KANK1):c.1818_1820del (p.Glu608del)
|
rs776592186
|
0.00011
|
NM_015158.5(KANK1):c.1882A>G (p.Ile628Val)
|
rs114109003
|
0.00011
|
NM_000817.3(GAD1):c.249C>A (p.Asp83Glu)
|
rs201750984
|
0.00010
|
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val)
|
rs377402921
|
0.00010
|
NM_015158.5(KANK1):c.255A>G (p.Ile85Met)
|
rs143368107
|
0.00010
|
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)
|
rs201496204
|
0.00009
|
NM_000817.3(GAD1):c.*431G>A
|
rs780421116
|
0.00009
|
NM_015158.5(KANK1):c.2077G>A (p.Glu693Lys)
|
rs370791961
|
0.00009
|
NM_000817.3(GAD1):c.203A>G (p.Lys68Arg)
|
rs112605975
|
0.00008
|
NM_000817.3(GAD1):c.268C>T (p.Arg90Cys)
|
rs373042715
|
0.00008
|
NM_015158.5(KANK1):c.1412G>A (p.Arg471His)
|
rs144629161
|
0.00007
|
NM_015158.5(KANK1):c.1909G>A (p.Val637Met)
|
rs147261175
|
0.00007
|
NM_000021.4(PSEN1):c.337C>T (p.Leu113=)
|
rs201500006
|
0.00006
|
NM_015158.5(KANK1):c.1624G>A (p.Val542Met)
|
rs146416309
|
0.00006
|
NM_015158.5(KANK1):c.1943G>A (p.Arg648Gln)
|
rs575779520
|
0.00006
|
NM_015158.5(KANK1):c.2968G>A (p.Ala990Thr)
|
rs138899296
|
0.00006
|
NM_000817.3(GAD1):c.*1205G>A
|
rs45537831
|
0.00005
|
NM_000817.3(GAD1):c.177G>C (p.Glu59Asp)
|
rs138838552
|
0.00005
|
NM_000817.3(GAD1):c.385C>A (p.Arg129Ser)
|
rs779472420
|
0.00005
|
NM_015158.5(KANK1):c.3733G>A (p.Gly1245Arg)
|
rs776210843
|
0.00005
|
NM_000021.4(PSEN1):c.566A>G (p.Tyr189Cys)
|
rs556147068
|
0.00004
|
NM_000021.4(PSEN1):c.932A>G (p.Lys311Arg)
|
rs115865530
|
0.00004
|
NM_000817.3(GAD1):c.*737G>A
|
rs943528474
|
0.00004
|
NM_000817.3(GAD1):c.1184+6G>A
|
rs755825439
|
0.00004
|
NM_000817.3(GAD1):c.34T>A (p.Ser12Thr)
|
rs149074954
|
0.00004
|
NM_000817.3(GAD1):c.830C>T (p.Ala277Val)
|
rs143319979
|
0.00004
|
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)
|
rs974837695
|
0.00004
|
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys)
|
rs770274373
|
0.00004
|
NM_015158.5(KANK1):c.226C>T (p.Pro76Ser)
|
rs767269190
|
0.00004
|
NM_015158.5(KANK1):c.2389G>A (p.Val797Met)
|
rs540922500
|
0.00004
|
NM_015158.5(KANK1):c.3486C>T (p.Gly1162=)
|
rs765330886
|
0.00004
|
NM_015158.5(KANK1):c.3552C>T (p.Ala1184=)
|
rs766169056
|
0.00004
|
NM_015158.5(KANK1):c.3608C>T (p.Ala1203Val)
|
rs375800988
|
0.00004
|
NM_015158.5(KANK1):c.972T>A (p.Tyr324Ter)
|
rs750400215
|
0.00004
|
NM_000021.4(PSEN1):c.1078G>A (p.Ala360Thr)
|
rs199715992
|
0.00003
|
NM_000817.3(GAD1):c.266G>A (p.Arg89Gln)
|
rs201233553
|
0.00003
|
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro)
|
rs753640366
|
0.00003
|
NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn)
|
rs754470891
|
0.00003
|
NM_015158.5(KANK1):c.2933T>C (p.Met978Thr)
|
rs753441206
|
0.00003
|
NM_015158.5(KANK1):c.466A>G (p.Lys156Glu)
|
rs762757246
|
0.00003
|
NM_000817.3(GAD1):c.1200C>T (p.Thr400=)
|
rs200506981
|
0.00002
|
NM_000817.3(GAD1):c.1519G>A (p.Glu507Lys)
|
rs780328766
|
0.00002
|
NM_000817.3(GAD1):c.251G>A (p.Arg84Gln)
|
rs200092679
|
0.00002
|
NM_000817.3(GAD1):c.896C>T (p.Ala299Val)
|
rs762950875
|
0.00002
|
NM_015158.5(KANK1):c.1997C>T (p.Pro666Leu)
|
rs746088661
|
0.00002
|
NM_015158.5(KANK1):c.2153C>G (p.Ala718Gly)
|
rs748758469
|
0.00002
|
NM_015158.5(KANK1):c.3137T>C (p.Met1046Thr)
|
rs746428922
|
0.00002
|
NM_015158.5(KANK1):c.3281A>G (p.Asn1094Ser)
|
rs745697707
|
0.00002
|
NM_015158.5(KANK1):c.3869C>A (p.Pro1290His)
|
rs200278059
|
0.00002
|
NM_025150.5(TARS2):c.968T>G (p.Phe323Cys)
|
rs760208518
|
0.00002
|
NM_000021.4(PSEN1):c.1034A>G (p.Asp345Gly)
|
rs1018763711
|
0.00001
|
NM_000021.4(PSEN1):c.1225G>A (p.Ala409Thr)
|
rs63750227
|
0.00001
|
NM_000021.4(PSEN1):c.1279A>G (p.Ile427Val)
|
rs1398951357
|
0.00001
|
NM_000021.4(PSEN1):c.178C>T (p.Arg60Trp)
|
rs777427451
|
0.00001
|
NM_000021.4(PSEN1):c.280G>A (p.Val94Met)
|
rs63750831
|
0.00001
|
NM_000021.4(PSEN1):c.370A>G (p.Thr124Ala)
|
rs771002035
|
0.00001
|
NM_000021.4(PSEN1):c.442A>G (p.Ile148Val)
|
rs747363386
|
0.00001
|
NM_000021.4(PSEN1):c.571G>A (p.Val191Ile)
|
rs750585566
|
0.00001
|
NM_000021.4(PSEN1):c.622G>T (p.Val208Leu)
|
rs543391977
|
0.00001
|
NM_000021.4(PSEN1):c.659G>A (p.Arg220Gln)
|
rs763831389
|
0.00001
|
NM_000021.4(PSEN1):c.79C>T (p.Arg27Cys)
|
rs886050663
|
0.00001
|
NM_000817.2(GAD1):c.-226T>C
|
rs1489168699
|
0.00001
|
NM_000817.3(GAD1):c.*1129C>T
|
rs973716380
|
0.00001
|
NM_000817.3(GAD1):c.*242A>C
|
rs182824071
|
0.00001
|
NM_000817.3(GAD1):c.*419T>G
|
rs1319931041
|
0.00001
|
NM_000817.3(GAD1):c.*989C>T
|
rs1002008911
|
0.00001
|
NM_000817.3(GAD1):c.-53C>A
|
rs886055097
|
0.00001
|
NM_000817.3(GAD1):c.1334C>T (p.Ser445Phe)
|
rs1169710215
|
0.00001
|
NM_000817.3(GAD1):c.147C>T (p.Gly49=)
|
rs777912966
|
0.00001
|
NM_000817.3(GAD1):c.1652C>T (p.Thr551Met)
|
rs762878619
|
0.00001
|
NM_000817.3(GAD1):c.1723G>A (p.Ala575Thr)
|
rs527691350
|
0.00001
|
NM_000817.3(GAD1):c.35C>G (p.Ser12Cys)
|
rs121918345
|
0.00001
|
NM_000817.3(GAD1):c.54C>A (p.Asp18Glu)
|
rs758731063
|
0.00001
|
NM_000817.3(GAD1):c.638+10A>G
|
rs769537621
|
0.00001
|
NM_000817.3(GAD1):c.867+9G>A
|
rs369785577
|
0.00001
|
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile)
|
rs374996228
|
0.00001
|
NM_015158.5(KANK1):c.1086G>C (p.Gln362His)
|
rs747879222
|
0.00001
|
NM_015158.5(KANK1):c.148G>T (p.Asp50Tyr)
|
rs745774146
|
0.00001
|
NM_015158.5(KANK1):c.1901C>G (p.Ser634Cys)
|
rs1305877076
|
0.00001
|
NM_015158.5(KANK1):c.2143C>T (p.Arg715Trp)
|
rs780258278
|
0.00001
|
NM_015158.5(KANK1):c.2474A>G (p.His825Arg)
|
rs1324583042
|
0.00001
|
NM_015158.5(KANK1):c.2683C>A (p.Leu895Met)
|
rs770304192
|
0.00001
|
NM_015158.5(KANK1):c.3764C>A (p.Ala1255Asp)
|
rs187246624
|
0.00001
|
NM_015158.5(KANK1):c.433C>T (p.Pro145Ser)
|
rs771646121
|
0.00001
|
NM_015158.5(KANK1):c.46G>C (p.Gly16Arg)
|
rs770900793
|
0.00001
|
NM_016824.5(ADD3):c.1372G>A (p.Gly458Arg)
|
rs753065727
|
0.00001
|
46;XY;t(6;16)(p21.1;q21)dn
|
|
|
NM_000021.4(PSEN1):c.1003G>A (p.Gly335Arg)
|
rs138871096
|
|
NM_000021.4(PSEN1):c.1073G>C (p.Arg358Pro)
|
rs63751174
|
|
NM_000021.4(PSEN1):c.1081G>C (p.Val361Leu)
|
rs1019919048
|
|
NM_000021.4(PSEN1):c.1087G>C (p.Glu363Gln)
|
|
|
NM_000021.4(PSEN1):c.1094C>T (p.Ser365Phe)
|
|
|
NM_000021.4(PSEN1):c.1148T>G (p.Leu383Trp)
|
rs1566656647
|
|
NM_000021.4(PSEN1):c.1156T>G (p.Phe386Val)
|
|
|
NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile)
|
|
|
NM_000021.4(PSEN1):c.118_120del (p.Asp40del)
|
rs759538127
|
|
NM_000021.4(PSEN1):c.1223T>C (p.Ile408Thr)
|
|
|
NM_000021.4(PSEN1):c.123A>T (p.Arg41Ser)
|
|
|
NM_000021.4(PSEN1):c.1240A>G (p.Ile414Val)
|
rs777734426
|
|
NM_000021.4(PSEN1):c.1249-6C>A
|
|
|
NM_000021.4(PSEN1):c.124C>G (p.Arg42Gly)
|
|
|
NM_000021.4(PSEN1):c.125G>A (p.Arg42Gln)
|
rs367775281
|
|
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala)
|
|
|
NM_000021.4(PSEN1):c.1319C>A (p.Thr440Asn)
|
rs1900050658
|
|
NM_000021.4(PSEN1):c.1369A>G (p.Met457Val)
|
rs1430581353
|
|
NM_000021.4(PSEN1):c.256T>C (p.Phe86Leu)
|
|
|
NM_000021.4(PSEN1):c.262C>A (p.Pro88Thr)
|
rs1897874234
|
|
NM_000021.4(PSEN1):c.269C>G (p.Thr90Ser)
|
rs1007193620
|
|
NM_000021.4(PSEN1):c.308_310del (p.Val103_Ser104delinsGly)
|
|
|
NM_000021.4(PSEN1):c.323G>A (p.Arg108Gln)
|
|
|
NM_000021.4(PSEN1):c.352T>G (p.Phe118Val)
|
|
|
NM_000021.4(PSEN1):c.367G>C (p.Glu123Gln)
|
rs63750378
|
|
NM_000021.4(PSEN1):c.392A>G (p.His131Arg)
|
|
|
NM_000021.4(PSEN1):c.401T>G (p.Leu134Arg)
|
rs1595002439
|
|
NM_000021.4(PSEN1):c.466T>C (p.Tyr156His)
|
|
|
NM_000021.4(PSEN1):c.475T>C (p.Tyr159His)
|
rs1897961716
|
|
NM_000021.4(PSEN1):c.481G>A (p.Val161Ile)
|
rs1898533490
|
|
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser)
|
rs1898533739
|
|
NM_000021.4(PSEN1):c.491C>A (p.Ala164Asp)
|
|
|
NM_000021.4(PSEN1):c.504ATC[1] (p.Ser170del)
|
|
|
NM_000021.4(PSEN1):c.509C>A (p.Ser170Tyr)
|
rs63750577
|
|
NM_000021.4(PSEN1):c.532T>C (p.Ser178Pro)
|
rs63750155
|
|
NM_000021.4(PSEN1):c.550G>A (p.Glu184Lys)
|
|
|
NM_000021.4(PSEN1):c.560A>C (p.Lys187Thr)
|
rs2140093212
|
|
NM_000021.4(PSEN1):c.592G>C (p.Val198Leu)
|
|
|
NM_000021.4(PSEN1):c.667C>A (p.Gln223Lys)
|
rs1898776259
|
|
NM_000021.4(PSEN1):c.679A>C (p.Ile227Leu)
|
|
|
NM_000021.4(PSEN1):c.679A>G (p.Ile227Val)
|
|
|
NM_000021.4(PSEN1):c.768T>C (p.Tyr256=)
|
|
|
NM_000021.4(PSEN1):c.808A>G (p.Met270Val)
|
|
|
NM_000021.4(PSEN1):c.808_810dup (p.Met270_Leu271insMet)
|
|
|
NM_000021.4(PSEN1):c.809T>C (p.Met270Thr)
|
rs1899028511
|
|
NM_000021.4(PSEN1):c.821C>G (p.Thr274Arg)
|
rs63750284
|
|
NM_000021.4(PSEN1):c.842C>T (p.Thr281Met)
|
|
|
NM_000021.4(PSEN1):c.869-3C>A
|
rs2140125016
|
|
NM_000021.4(PSEN1):c.871A>G (p.Thr291Ala)
|
|
|
NM_000021.4(PSEN1):c.876G>C (p.Met292Ile)
|
|
|
NM_000021.4(PSEN1):c.895G>T (p.Ala299Ser)
|
|
|
NM_000021.4(PSEN1):c.907C>G (p.Pro303Ala)
|
rs1594750510
|
|
NM_000021.4(PSEN1):c.908C>T (p.Pro303Leu)
|
|
|
NM_000021.4(PSEN1):c.918A>C (p.Gln306His)
|
rs1256981707
|
|
NM_000021.4(PSEN1):c.936T>G (p.Asn312Lys)
|
|
|
NM_000021.4(PSEN1):c.955A>T (p.Ser319Cys)
|
rs2140125296
|
|
NM_000153.4:c.[1592G>A];[334A>G]
|
|
|
NM_000817.2(GAD1):c.-276C>T
|
rs931737060
|
|
NM_000817.2(GAD1):c.-395G>T
|
rs376690436
|
|
NM_000817.3(GAD1):c.*1101G>A
|
rs1702951481
|
|
NM_000817.3(GAD1):c.*1153T>C
|
rs1702952602
|
|
NM_000817.3(GAD1):c.*561A>C
|
rs1702940888
|
|
NM_000817.3(GAD1):c.*764G>T
|
rs886055100
|
|
NM_000817.3(GAD1):c.-161G>A
|
rs886055096
|
|
NM_000817.3(GAD1):c.-161G>T
|
rs886055096
|
|
NM_000817.3(GAD1):c.-29A>G
|
rs551237040
|
|
NM_000817.3(GAD1):c.-91G>C
|
rs1701715157
|
|
NM_000817.3(GAD1):c.1002+4T>C
|
|
|
NM_000817.3(GAD1):c.103G>A (p.Val35Met)
|
|
|
NM_000817.3(GAD1):c.1159C>T (p.Arg387Cys)
|
|
|
NM_000817.3(GAD1):c.1251_1252delinsTT (p.Val418Phe)
|
rs1575445561
|
|
NM_000817.3(GAD1):c.1252G>T (p.Val418Phe)
|
rs143058194
|
|
NM_000817.3(GAD1):c.1259A>G (p.Glu420Gly)
|
|
|
NM_000817.3(GAD1):c.1263+6T>A
|
|
|
NM_000817.3(GAD1):c.1265G>A (p.Gly422Asp)
|
rs965039416
|
|
NM_000817.3(GAD1):c.1290G>A (p.Met430Ile)
|
rs761887714
|
|
NM_000817.3(GAD1):c.1525G>C (p.Glu509Gln)
|
rs1381723796
|
|
NM_000817.3(GAD1):c.1594C>T (p.Arg532Trp)
|
|
|
NM_000817.3(GAD1):c.1614G>C (p.Val538=)
|
rs886055099
|
|
NM_000817.3(GAD1):c.1638G>C (p.Met546Ile)
|
rs1702920979
|
|
NM_000817.3(GAD1):c.1672C>G (p.Pro558Ala)
|
|
|
NM_000817.3(GAD1):c.167G>T (p.Ser56Ile)
|
|
|
NM_000817.3(GAD1):c.1702A>T (p.Met568Leu)
|
|
|
NM_000817.3(GAD1):c.1747C>T (p.Leu583Phe)
|
rs1208499139
|
|
NM_000817.3(GAD1):c.17C>T (p.Pro6Leu)
|
rs886055098
|
|
NM_000817.3(GAD1):c.236G>A (p.Cys79Tyr)
|
rs2105775770
|
|
NM_000817.3(GAD1):c.264C>G (p.Phe88Leu)
|
rs1702169341
|
|
NM_000817.3(GAD1):c.265C>T (p.Arg89Trp)
|
rs150841255
|
|
NM_000817.3(GAD1):c.326G>C (p.Gly109Ala)
|
rs1228823911
|
|
NM_000817.3(GAD1):c.331G>A (p.Glu111Lys)
|
rs2105778312
|
|
NM_000817.3(GAD1):c.382G>A (p.Val128Ile)
|
rs1702206902
|
|
NM_000817.3(GAD1):c.38C>T (p.Ser13Leu)
|
|
|
NM_000817.3(GAD1):c.449G>T (p.Gly150Val)
|
rs2105778502
|
|
NM_000817.3(GAD1):c.61A>G (p.Thr21Ala)
|
|
|
NM_000817.3(GAD1):c.757G>A (p.Ala253Thr)
|
rs2105799342
|
|
NM_000817.3(GAD1):c.885G>C (p.Lys295Asn)
|
rs2105799723
|
|
NM_000817.3(GAD1):c.92C>T (p.Thr31Ile)
|
rs1413245027
|
|
NM_000817.3(GAD1):c.933A>G (p.Ile311Met)
|
rs1702617930
|
|
NM_000817.3(GAD1):c.962C>T (p.Pro321Leu)
|
|
|
NM_001042724.2(NECTIN2):c.127C>T (p.Arg43Ter)
|
rs1365743374
|
|
NM_001211.6(BUB1B):c.1526C>A (p.Ser509Ter)
|
rs2140900967
|
|
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val)
|
rs755131800
|
|
NM_001377265.1(MAPT):c.848del (p.Gly283fs)
|
rs773149360
|
|
NM_001378183.1(PIEZO2):c.1444del (p.Arg482fs)
|
rs2144239123
|
|
NM_001388492.1(HTT):c.7725G>A (p.Gln2575=)
|
rs1720799396
|
|
NM_004135.4(IDH3G):c.694T>C (p.Phe232Leu)
|
rs2092091803
|
|
NM_005228.5(EGFR):c.925C>T (p.Arg309Ter)
|
rs1444692842
|
|
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys)
|
rs886039513
|
|
NM_013436.5(NCKAP1):c.3348_3351del (p.Ala1115_Tyr1116insTer)
|
rs2105795104
|
|
NM_015158.5(KANK1):c.1069G>C (p.Val357Leu)
|
rs756738968
|
|
NM_015158.5(KANK1):c.1225A>G (p.Met409Val)
|
|
|
NM_015158.5(KANK1):c.130G>T (p.Asp44Tyr)
|
rs1564032190
|
|
NM_015158.5(KANK1):c.1607C>A (p.Thr536Lys)
|
rs149011172
|
|
NM_015158.5(KANK1):c.2020A>G (p.Ser674Gly)
|
rs1826539628
|
|
NM_015158.5(KANK1):c.2074A>G (p.Ile692Val)
|
|
|
NM_015158.5(KANK1):c.2174A>C (p.Lys725Thr)
|
|
|
NM_015158.5(KANK1):c.271T>A (p.Ser91Thr)
|
|
|
NM_015158.5(KANK1):c.2885C>T (p.Ala962Val)
|
rs1554713996
|
|
NM_015158.5(KANK1):c.2896+2T>G
|
rs149121553
|
|
NM_015158.5(KANK1):c.2929A>G (p.Ile977Val)
|
rs1564102615
|
|
NM_015158.5(KANK1):c.3213dup (p.Cys1072fs)
|
rs1002937620
|
|
NM_015158.5(KANK1):c.3333+1G>A
|
|
|
NM_015158.5(KANK1):c.335A>C (p.Gln112Pro)
|
rs751635469
|
|
NM_015158.5(KANK1):c.3382C>G (p.Gln1128Glu)
|
rs201456672
|
|
NM_015158.5(KANK1):c.3526G>C (p.Glu1176Gln)
|
rs200239036
|
|
NM_015158.5(KANK1):c.3634_3636del (p.Lys1212del)
|
rs1481812195
|
|
NM_015158.5(KANK1):c.3709del (p.Ala1237fs)
|
rs758879616
|
|
NM_015158.5(KANK1):c.3995C>T (p.Pro1332Leu)
|
rs143775530
|
|
NM_015158.5(KANK1):c.590CTT[1] (p.Ser198del)
|
rs781727306
|
|
NM_032756.4(HPDL):c.119A>C (p.Asp40Ala)
|
|
|
NM_032756.4(HPDL):c.232G>T (p.Ala78Ser)
|
|
|