NM_020778.5(ALPK3):c.4500-109A>C
|
rs2289138
|
0.86414
|
NM_020778.5(ALPK3):c.4411-289A>C
|
rs306199
|
0.85376
|
NM_020778.5(ALPK3):c.183-118C>G
|
rs891286
|
0.84323
|
NM_020778.5(ALPK3):c.3450T>C (p.Gly1150=)
|
rs167379
|
0.83408
|
NM_020778.4(ALPK3):c.24T>C (p.Tyr8=)
|
rs11857356
|
0.81254
|
NM_020778.5(ALPK3):c.*254A>G
|
rs7172412
|
0.80345
|
NM_020778.5(ALPK3):c.3290C>T (p.Pro1097Leu)
|
rs306197
|
0.78256
|
NM_020778.5(ALPK3):c.143+216T>G
|
rs7179643
|
0.77398
|
NM_020778.5(ALPK3):c.1329G>A (p.Gly443=)
|
rs3803406
|
0.68083
|
NM_020778.5(ALPK3):c.305-276C>T
|
rs10852091
|
0.46320
|
NM_020778.4(ALPK3):c.-74A>C
|
rs55736017
|
0.31018
|
NM_020778.5(ALPK3):c.3818-43G>A
|
rs2289141
|
0.20642
|
NM_020778.5(ALPK3):c.3965+174A>G
|
rs186266
|
0.20458
|
NM_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro)
|
rs187316
|
0.20037
|
NM_020778.5(ALPK3):c.635C>G (p.Thr212Ser)
|
rs3803403
|
0.19072
|
NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu)
|
rs3803405
|
0.18268
|
NM_020778.5(ALPK3):c.4129+193G>A
|
rs12907646
|
0.17050
|
NM_020778.5(ALPK3):c.1654-174T>C
|
rs73437960
|
0.14105
|
NM_020778.5(ALPK3):c.3966-95T>C
|
rs75346033
|
0.08131
|
NM_020778.5(ALPK3):c.4500-201A>G
|
rs77303431
|
0.07578
|
NM_020778.5(ALPK3):c.4772+308C>T
|
rs59022852
|
0.07490
|
NM_020778.5(ALPK3):c.4129+37C>T
|
rs2289140
|
0.07482
|
NM_020778.5(ALPK3):c.1654-81C>T
|
rs80014104
|
0.06894
|
NM_020778.5(ALPK3):c.3711C>T (p.Asp1237=)
|
rs35931910
|
0.06807
|
NM_020778.5(ALPK3):c.4130-210G>C
|
rs11857540
|
0.05669
|
NM_020778.5(ALPK3):c.3954G>A (p.Glu1318=)
|
rs34122391
|
0.05659
|
NM_020778.5(ALPK3):c.3818-235C>T
|
rs59475469
|
0.04606
|
NM_020778.4(ALPK3):c.194A>G (p.His65Arg)
|
rs28431354
|
0.03031
|
NM_020778.5(ALPK3):c.4130-230A>T
|
rs16974575
|
0.02837
|
NM_020778.5(ALPK3):c.4773-293G>A
|
rs79061571
|
0.02833
|
NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp)
|
rs55752937
|
0.02339
|
NM_020778.5(ALPK3):c.1199A>G (p.Gln400Arg)
|
rs55702300
|
0.02213
|
NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg)
|
rs78778733
|
0.01836
|
NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys)
|
rs35633849
|
0.01835
|
NM_020778.5(ALPK3):c.4064C>A (p.Ala1355Asp)
|
rs34775428
|
0.01753
|
NM_020778.5(ALPK3):c.304+155C>G
|
rs115838012
|
0.01349
|
NM_020778.5(ALPK3):c.2811C>G (p.Ala937=)
|
rs35621845
|
0.01276
|
NM_020778.5(ALPK3):c.183-172C>T
|
rs891285
|
0.01224
|
NM_020778.5(ALPK3):c.183-242C>T
|
rs891284
|
0.01224
|
NM_020778.5(ALPK3):c.4723+23G>A
|
rs73437966
|
0.01137
|
NM_020778.5(ALPK3):c.423-233C>A
|
rs73437946
|
0.01065
|
NM_020778.5(ALPK3):c.401G>A (p.Arg134His)
|
rs34407151
|
0.01062
|
NM_020778.5(ALPK3):c.423-173A>T
|
rs73437949
|
0.01062
|
NM_020778.5(ALPK3):c.144-28A>G
|
rs114536068
|
0.01030
|
NM_020778.5(ALPK3):c.104C>T (p.Ala35Val)
|
rs75088852
|
0.01026
|
NM_020778.5(ALPK3):c.3817+124C>T
|
rs114929985
|
0.00962
|
NM_020778.5(ALPK3):c.183-248C>G
|
rs79825359
|
0.00959
|
NM_020778.5(ALPK3):c.3965+101C>T
|
rs116770529
|
0.00945
|
NM_020778.5(ALPK3):c.3362A>G (p.Gln1121Arg)
|
rs114132013
|
0.00860
|
NM_020778.5(ALPK3):c.305-257G>A
|
rs184001384
|
0.00812
|
NM_020778.5(ALPK3):c.4130-169G>C
|
rs139859971
|
0.00678
|
NM_020778.5(ALPK3):c.4129+97A>G
|
rs114931667
|
0.00584
|
NM_020778.5(ALPK3):c.182+23T>G
|
rs28495917
|
0.00498
|
NM_020778.5(ALPK3):c.*49G>A
|
rs151129622
|
0.00435
|
NM_020778.5(ALPK3):c.183-128C>T
|
rs142926230
|
0.00433
|
NM_020778.4(ALPK3):c.175C>G (p.Arg59Gly)
|
rs115389253
|
0.00431
|
NM_020778.5(ALPK3):c.884A>G (p.Tyr295Cys)
|
rs116077141
|
0.00429
|
NM_020778.5(ALPK3):c.1710T>C (p.Asp570=)
|
rs56005718
|
0.00411
|
NM_020778.5(ALPK3):c.144-83G>A
|
rs142151750
|
0.00392
|
NM_020778.5(ALPK3):c.2595C>T (p.Pro865=)
|
rs114957070
|
0.00386
|
NM_020778.5(ALPK3):c.4499+211T>C
|
rs140730624
|
0.00386
|
NM_020778.5(ALPK3):c.2530C>T (p.Pro844Ser)
|
rs115292211
|
0.00382
|
NM_020778.5(ALPK3):c.2597C>T (p.Thr866Met)
|
rs35292668
|
0.00380
|
NM_020778.5(ALPK3):c.4093+37C>T
|
rs150130260
|
0.00377
|
NM_020778.5(ALPK3):c.158G>A (p.Arg53Gln)
|
rs145993158
|
0.00351
|
NM_020778.5(ALPK3):c.4474G>A (p.Ala1492Thr)
|
rs114449938
|
0.00349
|
NM_020778.5(ALPK3):c.123C>T (p.Leu41=)
|
rs78638069
|
0.00345
|
NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp)
|
rs34409363
|
0.00292
|
NM_020778.5(ALPK3):c.2367T>C (p.Thr789=)
|
rs55727747
|
0.00290
|
NM_020778.5(ALPK3):c.5012C>T (p.Ala1671Val)
|
rs36002219
|
0.00289
|
NM_020778.5(ALPK3):c.5091G>A (p.Glu1697=)
|
rs116608834
|
0.00271
|
NM_020778.5(ALPK3):c.1336C>A (p.Pro446Thr)
|
rs199986476
|
0.00202
|
NM_020778.5(ALPK3):c.1676C>T (p.Thr559Met)
|
rs16974569
|
0.00181
|
NM_020778.5(ALPK3):c.3965+11G>A
|
rs117116043
|
0.00175
|
NM_020778.5(ALPK3):c.4063G>A (p.Ala1355Thr)
|
rs114686452
|
0.00171
|
NM_020778.5(ALPK3):c.3624A>G (p.Pro1208=)
|
rs368494764
|
0.00150
|
NM_020778.4(ALPK3):c.9G>A (p.Val3=)
|
rs28408840
|
0.00117
|
NM_020778.5(ALPK3):c.940G>A (p.Ala314Thr)
|
rs115287026
|
0.00099
|
NM_020778.5(ALPK3):c.2747T>C (p.Leu916Pro)
|
rs150385353
|
0.00085
|
NM_020778.5(ALPK3):c.1015C>T (p.Arg339Cys)
|
rs141449225
|
0.00067
|
NM_020778.5(ALPK3):c.135C>T (p.Pro45=)
|
rs369591811
|
0.00062
|
NM_020778.5(ALPK3):c.3531C>T (p.Asp1177=)
|
rs115438635
|
0.00061
|
NM_020778.5(ALPK3):c.2965G>A (p.Gly989Arg)
|
rs115074675
|
0.00056
|
NM_020778.5(ALPK3):c.3401C>T (p.Ala1134Val)
|
rs139666355
|
0.00056
|
NM_020778.5(ALPK3):c.1900C>T (p.Arg634Cys)
|
rs201086326
|
0.00054
|
NM_020778.5(ALPK3):c.1982T>A (p.Met661Lys)
|
rs150227073
|
0.00046
|
NM_020778.5(ALPK3):c.2469A>G (p.Ser823=)
|
rs201780221
|
0.00046
|
NM_020778.4(ALPK3):c.192C>A (p.Cys64Ter)
|
rs115479471
|
0.00045
|
NM_020778.4(ALPK3):c.242C>T (p.Thr81Met)
|
rs200966727
|
0.00045
|
NM_020778.5(ALPK3):c.3786C>G (p.Ala1262=)
|
rs202162264
|
0.00043
|
NM_020778.5(ALPK3):c.948G>A (p.Lys316=)
|
rs151107093
|
0.00043
|
NM_020778.5(ALPK3):c.3353C>T (p.Ala1118Val)
|
rs200275512
|
0.00042
|
NM_020778.5(ALPK3):c.4071C>T (p.Thr1357=)
|
rs145385507
|
0.00040
|
NM_020778.5(ALPK3):c.2223C>T (p.Leu741=)
|
rs138935453
|
0.00039
|
NM_020778.5(ALPK3):c.3966-14T>C
|
rs145646854
|
0.00039
|
NM_020778.5(ALPK3):c.938G>A (p.Gly313Glu)
|
rs148547083
|
0.00038
|
NM_020778.5(ALPK3):c.2262A>G (p.Glu754=)
|
rs143456491
|
0.00037
|
NM_020778.5(ALPK3):c.4056C>T (p.His1352=)
|
rs144613098
|
0.00035
|
NM_020778.5(ALPK3):c.4939A>T (p.Arg1647Trp)
|
rs115364627
|
0.00034
|
NM_020778.5(ALPK3):c.1737C>T (p.Ser579=)
|
rs115301935
|
0.00032
|
NM_020778.5(ALPK3):c.2205A>G (p.Pro735=)
|
rs116418403
|
0.00032
|
NM_020778.5(ALPK3):c.5114G>A (p.Arg1705Gln)
|
rs116585466
|
0.00032
|
NM_020778.5(ALPK3):c.150A>G (p.Ser50=)
|
rs79285448
|
0.00031
|
NM_020778.5(ALPK3):c.3302G>A (p.Gly1101Asp)
|
rs201049076
|
0.00029
|
NM_020778.5(ALPK3):c.1738G>A (p.Gly580Arg)
|
rs143892088
|
0.00028
|
NM_020778.5(ALPK3):c.4808T>C (p.Leu1603Pro)
|
rs145058237
|
0.00028
|
NM_020778.5(ALPK3):c.3354G>A (p.Ala1118=)
|
rs375245603
|
0.00027
|
NM_020778.5(ALPK3):c.3702G>A (p.Ala1234=)
|
rs55721004
|
0.00027
|
NM_020778.5(ALPK3):c.4387A>G (p.Arg1463Gly)
|
rs147450988
|
0.00026
|
NM_020778.5(ALPK3):c.4899C>G (p.Pro1633=)
|
rs143514559
|
0.00026
|
NM_020778.5(ALPK3):c.1412C>T (p.Thr471Ile)
|
rs143709902
|
0.00024
|
NM_020778.5(ALPK3):c.2528G>A (p.Arg843Gln)
|
rs114988007
|
0.00024
|
NM_020778.5(ALPK3):c.4156A>G (p.Met1386Val)
|
rs149627415
|
0.00024
|
NM_020778.5(ALPK3):c.2674G>A (p.Gly892Arg)
|
rs145983200
|
0.00023
|
NM_020778.5(ALPK3):c.832G>A (p.Gly278Arg)
|
rs573106150
|
0.00023
|
NM_020778.5(ALPK3):c.3026G>A (p.Arg1009Gln)
|
rs138597569
|
0.00022
|
NM_020778.5(ALPK3):c.3596G>A (p.Ser1199Asn)
|
rs372009130
|
0.00021
|
NM_020778.5(ALPK3):c.80G>A (p.Gly27Asp)
|
rs931782668
|
0.00021
|
NM_020778.5(ALPK3):c.407C>T (p.Thr136Ile)
|
rs56015306
|
0.00020
|
NM_020778.5(ALPK3):c.1691C>T (p.Ser564Leu)
|
rs200540710
|
0.00019
|
NM_020778.5(ALPK3):c.2640G>A (p.Lys880=)
|
rs142338449
|
0.00019
|
NM_020778.5(ALPK3):c.4499+46T>G
|
rs2289139
|
0.00019
|
NM_020778.5(ALPK3):c.1207C>T (p.Pro403Ser)
|
rs761234447
|
0.00018
|
NM_020778.5(ALPK3):c.2808C>T (p.Cys936=)
|
rs549842134
|
0.00018
|
NM_020778.5(ALPK3):c.679T>C (p.Leu227=)
|
rs754287619
|
0.00018
|
NM_020778.5(ALPK3):c.2146G>A (p.Ala716Thr)
|
rs201330184
|
0.00017
|
NM_020778.5(ALPK3):c.653C>T (p.Pro218Leu)
|
rs373555781
|
0.00017
|
NM_020778.5(ALPK3):c.1092G>A (p.Glu364=)
|
rs143928374
|
0.00016
|
NM_020778.5(ALPK3):c.2925A>G (p.Thr975=)
|
rs367733791
|
0.00016
|
NM_020778.5(ALPK3):c.3642C>A (p.Ser1214=)
|
rs774275671
|
0.00016
|
NM_020778.5(ALPK3):c.4081C>T (p.Leu1361Phe)
|
rs780101092
|
0.00016
|
NM_020778.5(ALPK3):c.4083C>T (p.Leu1361=)
|
rs748831518
|
0.00016
|
NM_020778.5(ALPK3):c.4765C>T (p.Leu1589Phe)
|
rs1012634268
|
0.00016
|
NM_020778.4(ALPK3):c.154C>T (p.Pro52Ser)
|
rs373853510
|
0.00015
|
NM_020778.4(ALPK3):c.374C>T (p.Ala125Val)
|
rs539539451
|
0.00015
|
NM_020778.5(ALPK3):c.2831G>A (p.Gly944Glu)
|
rs558514709
|
0.00015
|
NM_020778.5(ALPK3):c.175T>C (p.Ser59Pro)
|
rs750401200
|
0.00014
|
NM_020778.5(ALPK3):c.301A>G (p.Thr101Ala)
|
rs199645892
|
0.00014
|
NM_020778.5(ALPK3):c.3662C>T (p.Ala1221Val)
|
rs557058818
|
0.00014
|
NM_020778.5(ALPK3):c.3832C>T (p.Arg1278Trp)
|
rs201413329
|
0.00014
|
NM_020778.5(ALPK3):c.4398C>T (p.Asp1466=)
|
rs139907293
|
0.00014
|
NM_020778.5(ALPK3):c.712C>T (p.Pro238Ser)
|
rs138094037
|
0.00014
|
NM_020778.5(ALPK3):c.-43G>A
|
rs949112384
|
0.00013
|
NM_020778.5(ALPK3):c.1226A>G (p.Gln409Arg)
|
rs765187060
|
0.00013
|
NM_020778.5(ALPK3):c.3647C>T (p.Thr1216Met)
|
rs767667447
|
0.00013
|
NM_020778.5(ALPK3):c.4381G>C (p.Val1461Leu)
|
rs143835594
|
0.00013
|
NM_020778.5(ALPK3):c.4458A>G (p.Ala1486=)
|
rs200241564
|
0.00013
|
NM_020778.5(ALPK3):c.726T>C (p.Pro242=)
|
rs143386861
|
0.00013
|
NC_000015.10:g.84817249G>C
|
rs1307711783
|
0.00012
|
NM_020778.5(ALPK3):c.2451A>G (p.Arg817=)
|
rs368549774
|
0.00012
|
NM_020778.5(ALPK3):c.3704C>T (p.Ala1235Val)
|
rs200282192
|
0.00012
|
NM_020778.5(ALPK3):c.3720C>T (p.Pro1240=)
|
rs769015282
|
0.00012
|
NM_020778.5(ALPK3):c.3735C>T (p.Gly1245=)
|
rs760971774
|
0.00012
|
NM_020778.5(ALPK3):c.3818-3C>T
|
rs758948501
|
0.00012
|
NM_020778.4(ALPK3):c.294G>A (p.Arg98=)
|
rs769106632
|
0.00011
|
NM_020778.5(ALPK3):c.1036A>C (p.Ile346Leu)
|
rs201336763
|
0.00011
|
NM_020778.5(ALPK3):c.183-5C>T
|
rs758923137
|
0.00011
|
NM_020778.5(ALPK3):c.2701G>A (p.Glu901Lys)
|
rs199572606
|
0.00011
|
NM_020778.5(ALPK3):c.4448A>G (p.Lys1483Arg)
|
rs367667489
|
0.00011
|
NM_020778.5(ALPK3):c.4600G>A (p.Glu1534Lys)
|
rs765401924
|
0.00011
|
NM_020778.5(ALPK3):c.5064G>A (p.Leu1688=)
|
rs115813516
|
0.00011
|
NM_020778.5(ALPK3):c.62G>T (p.Gly21Val)
|
rs1415475314
|
0.00011
|
NM_020778.4(ALPK3):c.487A>G (p.Arg163Gly)
|
rs1008637055
|
0.00010
|
NM_020778.5(ALPK3):c.221A>C (p.Glu74Ala)
|
rs533505673
|
0.00010
|
NM_020778.5(ALPK3):c.2529G>A (p.Arg843=)
|
rs139767418
|
0.00010
|
NM_020778.5(ALPK3):c.297C>A (p.Ile99=)
|
rs770674872
|
0.00010
|
NM_020778.5(ALPK3):c.3231C>T (p.Asp1077=)
|
rs142001827
|
0.00010
|
NM_020778.4(ALPK3):c.75G>A (p.Leu25=)
|
rs146005696
|
0.00009
|
NM_020778.5(ALPK3):c.-63G>C
|
rs990569157
|
0.00009
|
NM_020778.5(ALPK3):c.1457C>T (p.Pro486Leu)
|
rs150985765
|
0.00009
|
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp)
|
rs56191073
|
0.00009
|
NM_020778.5(ALPK3):c.2934A>G (p.Ala978=)
|
rs574248459
|
0.00009
|
NM_020778.5(ALPK3):c.2964C>T (p.Thr988=)
|
rs199749201
|
0.00009
|
NM_020778.5(ALPK3):c.3683G>A (p.Arg1228Gln)
|
rs150023454
|
0.00009
|
NM_020778.5(ALPK3):c.3752T>C (p.Val1251Ala)
|
rs762986369
|
0.00009
|
NM_020778.5(ALPK3):c.400C>T (p.Arg134Cys)
|
rs779972206
|
0.00009
|
NM_020778.5(ALPK3):c.4197G>A (p.Gly1399=)
|
rs777711325
|
0.00009
|
NM_020778.5(ALPK3):c.654C>G (p.Pro218=)
|
rs145729582
|
0.00009
|
NM_020778.5(ALPK3):c.2653A>G (p.Ser885Gly)
|
rs770595600
|
0.00008
|
NM_020778.5(ALPK3):c.3038G>A (p.Arg1013His)
|
rs201993684
|
0.00008
|
NM_020778.5(ALPK3):c.4024G>A (p.Gly1342Ser)
|
rs373062858
|
0.00008
|
NM_020778.5(ALPK3):c.4576C>A (p.Pro1526Thr)
|
rs572228740
|
0.00008
|
NM_020778.5(ALPK3):c.5003G>A (p.Arg1668Gln)
|
rs370296349
|
0.00008
|
NM_020778.5(ALPK3):c.983G>A (p.Arg328Gln)
|
rs1343260515
|
0.00008
|
NM_020778.5(ALPK3):c.182+9A>G
|
rs200942386
|
0.00007
|
NM_020778.5(ALPK3):c.2513G>T (p.Cys838Phe)
|
rs202037221
|
0.00007
|
NM_020778.5(ALPK3):c.3137G>A (p.Arg1046His)
|
rs184951836
|
0.00007
|
NM_020778.5(ALPK3):c.3485G>C (p.Gly1162Ala)
|
rs752749949
|
0.00007
|
NM_020778.5(ALPK3):c.3950G>A (p.Gly1317Asp)
|
rs148887150
|
0.00007
|
NM_020778.5(ALPK3):c.3986C>T (p.Ala1329Val)
|
rs140665587
|
0.00007
|
NM_020778.5(ALPK3):c.4998C>T (p.Gly1666=)
|
rs749593573
|
0.00007
|
NM_020778.5(ALPK3):c.5002C>T (p.Arg1668Trp)
|
rs148009523
|
0.00007
|
NM_020778.5(ALPK3):c.684C>T (p.Ser228=)
|
rs755435540
|
0.00007
|
NM_020778.5(ALPK3):c.698C>T (p.Pro233Leu)
|
rs150785783
|
0.00007
|
NC_000015.10:g.84817286G>A
|
rs572969717
|
0.00006
|
NM_020778.4(ALPK3):c.300C>G (p.Pro100=)
|
rs1471283704
|
0.00006
|
NM_020778.4(ALPK3):c.301G>A (p.Gly101Arg)
|
rs868375261
|
0.00006
|
NM_020778.5(ALPK3):c.-64C>G
|
rs959503280
|
0.00006
|
NM_020778.5(ALPK3):c.1266C>T (p.Asn422=)
|
rs528843595
|
0.00006
|
NM_020778.5(ALPK3):c.133C>T (p.Pro45Ser)
|
rs941969303
|
0.00006
|
NM_020778.5(ALPK3):c.1408T>C (p.Leu470=)
|
rs770190564
|
0.00006
|
NM_020778.5(ALPK3):c.2504C>T (p.Pro835Leu)
|
rs529373050
|
0.00006
|
NM_020778.5(ALPK3):c.2543C>T (p.Pro848Leu)
|
rs372536101
|
0.00006
|
NM_020778.5(ALPK3):c.256C>T (p.Arg86Trp)
|
rs201202701
|
0.00006
|
NM_020778.5(ALPK3):c.2688C>T (p.Thr896=)
|
rs754817532
|
0.00006
|
NM_020778.5(ALPK3):c.2753C>T (p.Thr918Ile)
|
rs202161551
|
0.00006
|
NM_020778.5(ALPK3):c.3113G>A (p.Arg1038His)
|
rs146371614
|
0.00006
|
NM_020778.5(ALPK3):c.3115C>T (p.Arg1039Cys)
|
rs753321062
|
0.00006
|
NM_020778.5(ALPK3):c.3319C>G (p.Gln1107Glu)
|
rs767926913
|
0.00006
|
NM_020778.5(ALPK3):c.3736G>A (p.Gly1246Ser)
|
rs765178304
|
0.00006
|
NM_020778.5(ALPK3):c.4309G>A (p.Glu1437Lys)
|
rs747233148
|
0.00006
|
NM_020778.5(ALPK3):c.4726G>A (p.Val1576Ile)
|
rs769823625
|
0.00006
|
NM_020778.5(ALPK3):c.4890G>A (p.Ala1630=)
|
rs966573820
|
0.00006
|
NM_020778.5(ALPK3):c.962A>G (p.Glu321Gly)
|
rs764430950
|
0.00006
|
NM_020778.4(ALPK3):c.226G>A (p.Gly76Ser)
|
rs758170095
|
0.00005
|
NM_020778.5(ALPK3):c.2401C>T (p.Pro801Ser)
|
rs775017533
|
0.00005
|
NM_020778.5(ALPK3):c.2477C>T (p.Pro826Leu)
|
rs775305251
|
0.00005
|
NM_020778.5(ALPK3):c.2648C>T (p.Pro883Leu)
|
rs771710451
|
0.00005
|
NM_020778.5(ALPK3):c.2660C>T (p.Pro887Leu)
|
rs759973437
|
0.00005
|
NM_020778.5(ALPK3):c.3124G>A (p.Gly1042Ser)
|
rs561031407
|
0.00005
|
NM_020778.5(ALPK3):c.3521C>A (p.Ala1174Glu)
|
rs541005940
|
0.00005
|
NM_020778.5(ALPK3):c.4014C>T (p.Pro1338=)
|
rs370134731
|
0.00005
|
NM_020778.5(ALPK3):c.4033C>T (p.Arg1345Trp)
|
rs748989211
|
0.00005
|
NM_020778.5(ALPK3):c.4500-11A>T
|
rs748934060
|
0.00005
|
NM_020778.5(ALPK3):c.4575G>T (p.Lys1525Asn)
|
rs116112514
|
0.00005
|
NM_020778.5(ALPK3):c.4686G>A (p.Gln1562=)
|
rs149933659
|
0.00005
|
NM_020778.5(ALPK3):c.4883C>T (p.Pro1628Leu)
|
rs371706327
|
0.00005
|
NM_020778.5(ALPK3):c.5027C>G (p.Ala1676Gly)
|
rs150250443
|
0.00005
|
NM_020778.5(ALPK3):c.695C>T (p.Ala232Val)
|
rs777917827
|
0.00005
|
NM_020778.5(ALPK3):c.791G>T (p.Gly264Val)
|
rs747849453
|
0.00005
|
NC_000015.10:g.84817261C>G
|
rs992295669
|
0.00004
|
NM_020778.4(ALPK3):c.302G>A (p.Gly101Glu)
|
rs774834870
|
0.00004
|
NM_020778.5(ALPK3):c.1000A>G (p.Lys334Glu)
|
rs1273788350
|
0.00004
|
NM_020778.5(ALPK3):c.1304A>G (p.Gln435Arg)
|
rs754238381
|
0.00004
|
NM_020778.5(ALPK3):c.1393C>A (p.Gln465Lys)
|
rs771343949
|
0.00004
|
NM_020778.5(ALPK3):c.1917G>A (p.Thr639=)
|
rs141003674
|
0.00004
|
NM_020778.5(ALPK3):c.2251C>T (p.Leu751=)
|
rs746323615
|
0.00004
|
NM_020778.5(ALPK3):c.2444G>A (p.Gly815Glu)
|
rs199907297
|
0.00004
|
NM_020778.5(ALPK3):c.245C>T (p.Thr82Met)
|
rs369383271
|
0.00004
|
NM_020778.5(ALPK3):c.2642C>T (p.Ala881Val)
|
rs375943296
|
0.00004
|
NM_020778.5(ALPK3):c.2649G>A (p.Pro883=)
|
rs115903792
|
0.00004
|
NM_020778.5(ALPK3):c.2849G>A (p.Arg950Gln)
|
rs772259344
|
0.00004
|
NM_020778.5(ALPK3):c.3032C>T (p.Ser1011Leu)
|
rs374420068
|
0.00004
|
NM_020778.5(ALPK3):c.3116G>A (p.Arg1039His)
|
rs375717780
|
0.00004
|
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)
|
rs749465164
|
0.00004
|
NM_020778.5(ALPK3):c.322G>A (p.Val108Met)
|
rs151295172
|
0.00004
|
NM_020778.5(ALPK3):c.344C>T (p.Thr115Met)
|
rs140571556
|
0.00004
|
NM_020778.5(ALPK3):c.3632A>G (p.Glu1211Gly)
|
rs565962039
|
0.00004
|
NM_020778.5(ALPK3):c.3701C>T (p.Ala1234Val)
|
rs1009090950
|
0.00004
|
NM_020778.5(ALPK3):c.3757C>T (p.Leu1253=)
|
rs368308206
|
0.00004
|
NM_020778.5(ALPK3):c.3892T>C (p.Phe1298Leu)
|
rs200756406
|
0.00004
|
NM_020778.5(ALPK3):c.3899A>G (p.Asn1300Ser)
|
rs115510864
|
0.00004
|
NM_020778.5(ALPK3):c.3952G>A (p.Glu1318Lys)
|
rs142686791
|
0.00004
|
NM_020778.5(ALPK3):c.3983C>T (p.Pro1328Leu)
|
rs371508067
|
0.00004
|
NM_020778.5(ALPK3):c.4040C>T (p.Thr1347Ile)
|
rs772261260
|
0.00004
|
NM_020778.5(ALPK3):c.4061C>T (p.Ser1354Leu)
|
rs377340628
|
0.00004
|
NM_020778.5(ALPK3):c.4092G>C (p.Glu1364Asp)
|
rs778715401
|
0.00004
|
NM_020778.5(ALPK3):c.4093+13C>T
|
rs773431240
|
0.00004
|
NM_020778.5(ALPK3):c.40G>T (p.Gly14Cys)
|
rs1053607919
|
0.00004
|
NM_020778.5(ALPK3):c.4130-9C>A
|
rs368518771
|
0.00004
|
NM_020778.5(ALPK3):c.4200C>G (p.Asp1400Glu)
|
rs372818428
|
0.00004
|
NM_020778.5(ALPK3):c.4311G>A (p.Glu1437=)
|
rs148379985
|
0.00004
|
NM_020778.5(ALPK3):c.4314G>A (p.Ser1438=)
|
rs374878079
|
0.00004
|
NM_020778.5(ALPK3):c.4319G>A (p.Arg1440His)
|
rs182140062
|
0.00004
|
NM_020778.5(ALPK3):c.438T>C (p.Asp146=)
|
rs367865501
|
0.00004
|
NM_020778.5(ALPK3):c.4489G>A (p.Glu1497Lys)
|
rs201240006
|
0.00004
|
NM_020778.5(ALPK3):c.4499+2dup
|
rs753084997
|
0.00004
|
NM_020778.5(ALPK3):c.4499+8C>T
|
rs775235360
|
0.00004
|
NM_020778.5(ALPK3):c.4637G>C (p.Ser1546Thr)
|
rs373750743
|
0.00004
|
NM_020778.5(ALPK3):c.4913A>G (p.Lys1638Arg)
|
rs749212010
|
0.00004
|
NM_020778.5(ALPK3):c.5113C>T (p.Arg1705Trp)
|
rs143300163
|
0.00004
|
NM_020778.5(ALPK3):c.549C>T (p.Ala183=)
|
rs1009515579
|
0.00004
|
NM_020778.5(ALPK3):c.595A>G (p.Ser199Gly)
|
rs780267653
|
0.00004
|
NM_020778.5(ALPK3):c.655G>A (p.Asp219Asn)
|
rs148244525
|
0.00004
|
NM_020778.5(ALPK3):c.690T>C (p.Ala230=)
|
rs148538731
|
0.00004
|
NM_020778.5(ALPK3):c.843C>A (p.Ala281=)
|
rs763262979
|
0.00004
|
NM_020778.4(ALPK3):c.292A>C (p.Arg98=)
|
rs994681645
|
0.00003
|
NM_020778.4(ALPK3):c.314C>T (p.Thr105Met)
|
rs1280728775
|
0.00003
|
NM_020778.4(ALPK3):c.399C>T (p.Pro133=)
|
rs552935780
|
0.00003
|
NM_020778.5(ALPK3):c.-13G>C
|
rs978144583
|
0.00003
|
NM_020778.5(ALPK3):c.1279A>T (p.Arg427Trp)
|
rs771706498
|
0.00003
|
NM_020778.5(ALPK3):c.1320G>T (p.Arg440=)
|
rs1033371309
|
0.00003
|
NM_020778.5(ALPK3):c.1709A>T (p.Asp570Val)
|
rs200724501
|
0.00003
|
NM_020778.5(ALPK3):c.1715C>T (p.Ala572Val)
|
rs373204179
|
0.00003
|
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met)
|
rs374911318
|
0.00003
|
NM_020778.5(ALPK3):c.2234C>T (p.Ala745Val)
|
rs142677464
|
0.00003
|
NM_020778.5(ALPK3):c.2391C>A (p.Asn797Lys)
|
rs368089654
|
0.00003
|
NM_020778.5(ALPK3):c.2481C>T (p.Val827=)
|
rs911323614
|
0.00003
|
NM_020778.5(ALPK3):c.2482G>A (p.Glu828Lys)
|
rs200846317
|
0.00003
|
NM_020778.5(ALPK3):c.2498A>G (p.Asp833Gly)
|
rs761421251
|
0.00003
|
NM_020778.5(ALPK3):c.2615G>C (p.Gly872Ala)
|
rs779766656
|
0.00003
|
NM_020778.5(ALPK3):c.298G>A (p.Val100Ile)
|
rs535488179
|
0.00003
|
NM_020778.5(ALPK3):c.3104G>A (p.Cys1035Tyr)
|
rs758388457
|
0.00003
|
NM_020778.5(ALPK3):c.3169G>A (p.Ala1057Thr)
|
rs769870094
|
0.00003
|
NM_020778.5(ALPK3):c.3400G>A (p.Ala1134Thr)
|
rs761129046
|
0.00003
|
NM_020778.5(ALPK3):c.3454C>G (p.Pro1152Ala)
|
rs780056277
|
0.00003
|
NM_020778.5(ALPK3):c.3455C>T (p.Pro1152Leu)
|
rs772625009
|
0.00003
|
NM_020778.5(ALPK3):c.3488C>T (p.Ala1163Val)
|
rs755941827
|
0.00003
|
NM_020778.5(ALPK3):c.3732C>T (p.Ala1244=)
|
rs370828206
|
0.00003
|
NM_020778.5(ALPK3):c.3817+15G>A
|
rs368481088
|
0.00003
|
NM_020778.5(ALPK3):c.3940C>T (p.Arg1314Cys)
|
rs147819987
|
0.00003
|
NM_020778.5(ALPK3):c.3941G>A (p.Arg1314His)
|
rs746125587
|
0.00003
|
NM_020778.5(ALPK3):c.4093+14G>A
|
rs539904892
|
0.00003
|
NM_020778.5(ALPK3):c.4224C>T (p.Ser1408=)
|
rs773522765
|
0.00003
|
NM_020778.5(ALPK3):c.4290C>T (p.Tyr1430=)
|
rs755476608
|
0.00003
|
NM_020778.5(ALPK3):c.4308C>T (p.Phe1436=)
|
rs567548946
|
0.00003
|
NM_020778.5(ALPK3):c.4436G>A (p.Arg1479Gln)
|
rs759101150
|
0.00003
|
NM_020778.5(ALPK3):c.4723+5G>A
|
rs771461497
|
0.00003
|
NM_020778.5(ALPK3):c.4902A>G (p.Gln1634=)
|
rs1390506057
|
0.00003
|
NM_020778.5(ALPK3):c.4910C>G (p.Ala1637Gly)
|
rs769409719
|
0.00003
|
NM_020778.5(ALPK3):c.4920dup (p.Lys1641Ter)
|
rs1338612539
|
0.00003
|
NM_020778.5(ALPK3):c.5073G>A (p.Gln1691=)
|
rs748019506
|
0.00003
|
NM_020778.5(ALPK3):c.704C>T (p.Pro235Leu)
|
rs774126835
|
0.00003
|
NM_020778.5(ALPK3):c.716C>T (p.Thr239Ile)
|
rs559342068
|
0.00003
|
NM_020778.5(ALPK3):c.806T>C (p.Phe269Ser)
|
rs975857797
|
0.00003
|
NM_020778.5(ALPK3):c.895G>A (p.Ala299Thr)
|
rs115195927
|
0.00003
|
NM_020778.4(ALPK3):c.105C>T (p.Leu35=)
|
rs149320215
|
0.00002
|
NM_020778.4(ALPK3):c.393dup (p.Pro132Alafs)
|
rs949029471
|
0.00002
|
NM_020778.5(ALPK3):c.-48G>A
|
rs917621488
|
0.00002
|
NM_020778.5(ALPK3):c.-77G>A
|
rs961911481
|
0.00002
|
NM_020778.5(ALPK3):c.1093C>T (p.Gln365Ter)
|
rs773730492
|
0.00002
|
NM_020778.5(ALPK3):c.109C>T (p.Arg37Trp)
|
rs1229697421
|
0.00002
|
NM_020778.5(ALPK3):c.1254G>A (p.Met418Ile)
|
rs754539409
|
0.00002
|
NM_020778.5(ALPK3):c.1368C>G (p.Ser456Arg)
|
rs375574739
|
0.00002
|
NM_020778.5(ALPK3):c.1407C>T (p.Ser469=)
|
rs1004733773
|
0.00002
|
NM_020778.5(ALPK3):c.186C>T (p.Ser62=)
|
rs116058119
|
0.00002
|
NM_020778.5(ALPK3):c.1916C>T (p.Thr639Met)
|
rs151054715
|
0.00002
|
NM_020778.5(ALPK3):c.2158A>G (p.Met720Val)
|
rs142214001
|
0.00002
|
NM_020778.5(ALPK3):c.235T>C (p.Phe79Leu)
|
rs933537644
|
0.00002
|
NM_020778.5(ALPK3):c.241A>G (p.Thr81Ala)
|
rs201679725
|
0.00002
|
NM_020778.5(ALPK3):c.2456G>A (p.Arg819Gln)
|
rs116079740
|
0.00002
|
NM_020778.5(ALPK3):c.2527C>T (p.Arg843Trp)
|
rs367609681
|
0.00002
|
NM_020778.5(ALPK3):c.2661G>A (p.Pro887=)
|
rs142125273
|
0.00002
|
NM_020778.5(ALPK3):c.2810C>T (p.Ala937Val)
|
rs1021527527
|
0.00002
|
NM_020778.5(ALPK3):c.2848C>T (p.Arg950Trp)
|
rs762163130
|
0.00002
|
NM_020778.5(ALPK3):c.297del (p.Ile99fs)
|
rs770674513
|
0.00002
|
NM_020778.5(ALPK3):c.3025C>T (p.Arg1009Trp)
|
rs765812547
|
0.00002
|
NM_020778.5(ALPK3):c.3050G>A (p.Arg1017His)
|
rs776844237
|
0.00002
|
NM_020778.5(ALPK3):c.3154C>T (p.Arg1052Cys)
|
rs745957839
|
0.00002
|
NM_020778.5(ALPK3):c.3204C>G (p.Ser1068=)
|
rs549946766
|
0.00002
|
NM_020778.5(ALPK3):c.3412T>C (p.Ser1138Pro)
|
rs1213169185
|
0.00002
|
NM_020778.5(ALPK3):c.345G>A (p.Thr115=)
|
rs760982683
|
0.00002
|
NM_020778.5(ALPK3):c.3466C>T (p.Pro1156Ser)
|
rs772697378
|
0.00002
|
NM_020778.5(ALPK3):c.355C>T (p.Arg119Cys)
|
rs766905744
|
0.00002
|
NM_020778.5(ALPK3):c.3580C>T (p.Arg1194Trp)
|
rs369492331
|
0.00002
|
NM_020778.5(ALPK3):c.3687A>C (p.Ala1229=)
|
rs954822834
|
0.00002
|
NM_020778.5(ALPK3):c.3733G>A (p.Gly1245Ser)
|
rs773569562
|
0.00002
|
NM_020778.5(ALPK3):c.3756C>T (p.Ala1252=)
|
rs763970372
|
0.00002
|
NM_020778.5(ALPK3):c.3864C>T (p.Ala1288=)
|
rs770514017
|
0.00002
|
NM_020778.5(ALPK3):c.3875T>G (p.Leu1292Arg)
|
rs1468829214
|
0.00002
|
NM_020778.5(ALPK3):c.4015G>A (p.Val1339Ile)
|
rs756951762
|
0.00002
|
NM_020778.5(ALPK3):c.4057G>A (p.Gly1353Ser)
|
rs1363798738
|
0.00002
|
NM_020778.5(ALPK3):c.4093+15C>T
|
rs771455330
|
0.00002
|
NM_020778.5(ALPK3):c.4096T>A (p.Leu1366Met)
|
rs777438509
|
0.00002
|
NM_020778.5(ALPK3):c.4130-1G>A
|
rs762110595
|
0.00002
|
NM_020778.5(ALPK3):c.4184C>G (p.Ser1395Cys)
|
rs192472249
|
0.00002
|
NM_020778.5(ALPK3):c.4267G>T (p.Ala1423Ser)
|
rs750010018
|
0.00002
|
NM_020778.5(ALPK3):c.4318C>T (p.Arg1440Cys)
|
rs200672174
|
0.00002
|
NM_020778.5(ALPK3):c.4469G>A (p.Arg1490Gln)
|
rs752155273
|
0.00002
|
NM_020778.5(ALPK3):c.4500-8A>G
|
rs769112906
|
0.00002
|
NM_020778.5(ALPK3):c.4723+8G>C
|
rs201433304
|
0.00002
|
NM_020778.5(ALPK3):c.4836G>A (p.Gln1612=)
|
rs376064840
|
0.00002
|
NM_020778.5(ALPK3):c.5001C>G (p.Thr1667=)
|
rs200351712
|
0.00002
|
NM_020778.5(ALPK3):c.5108G>A (p.Gly1703Asp)
|
rs1239606869
|
0.00002
|
NM_020778.5(ALPK3):c.699G>A (p.Pro233=)
|
rs776875875
|
0.00002
|
NM_020778.5(ALPK3):c.702C>A (p.Gly234=)
|
rs376896928
|
0.00002
|
NM_020778.5(ALPK3):c.750G>A (p.Trp250Ter)
|
rs765766340
|
0.00002
|
NM_020778.5(ALPK3):c.877C>A (p.Leu293Met)
|
rs377439661
|
0.00002
|
NC_000015.10:g.84816907G>C
|
rs751652599
|
0.00001
|
NC_000015.10:g.84816949C>T
|
rs759153626
|
0.00001
|
NC_000015.10:g.84816961C>G
|
rs1279216085
|
0.00001
|
NC_000015.10:g.84816992A>T
|
rs371628844
|
0.00001
|
NC_000015.10:g.84817029C>A
|
rs769431148
|
0.00001
|
NC_000015.10:g.84817199G>A
|
rs760781429
|
0.00001
|
NC_000015.10:g.84817218G>A
|
rs1963368559
|
0.00001
|
NM_020778.4(ALPK3):c.118C>A (p.Arg40=)
|
rs532756173
|
0.00001
|
NM_020778.4(ALPK3):c.120G>T (p.Arg40=)
|
rs1162529804
|
0.00001
|
NM_020778.4(ALPK3):c.140C>A (p.Ala47Glu)
|
rs1369786736
|
0.00001
|
NM_020778.4(ALPK3):c.173C>T (p.Pro58Leu)
|
rs1057523682
|
0.00001
|
NM_020778.4(ALPK3):c.177T>C (p.Arg59=)
|
rs780654617
|
0.00001
|
NM_020778.4(ALPK3):c.207G>A (p.Glu69=)
|
rs773416498
|
0.00001
|
NM_020778.4(ALPK3):c.295C>T (p.Pro99Ser)
|
rs1029763180
|
0.00001
|
NM_020778.4(ALPK3):c.30G>A (p.Leu10=)
|
rs1274284999
|
0.00001
|
NM_020778.4(ALPK3):c.407C>G (p.Ser136Cys)
|
rs1249463407
|
0.00001
|
NM_020778.4(ALPK3):c.486T>C (p.Asn162=)
|
rs891136583
|
0.00001
|
NM_020778.4(ALPK3):c.492C>T (p.Gly164=)
|
rs1963370785
|
0.00001
|
NM_020778.5(ALPK3):c.-10G>A
|
rs1057523686
|
0.00001
|
NM_020778.5(ALPK3):c.-14G>A
|
rs1194445562
|
0.00001
|
NM_020778.5(ALPK3):c.-22G>A
|
rs1156653140
|
0.00001
|
NM_020778.5(ALPK3):c.-29C>T
|
rs1396554659
|
0.00001
|
NM_020778.5(ALPK3):c.-6G>A
|
rs1963372517
|
0.00001
|
NM_020778.5(ALPK3):c.-96G>C
|
rs1963370921
|
0.00001
|
NM_020778.5(ALPK3):c.1079C>T (p.Pro360Leu)
|
rs1963647073
|
0.00001
|
NM_020778.5(ALPK3):c.1081G>A (p.Val361Met)
|
rs774628152
|
0.00001
|
NM_020778.5(ALPK3):c.1104C>A (p.Thr368=)
|
rs146781915
|
0.00001
|
NM_020778.5(ALPK3):c.1158C>T (p.Thr386=)
|
rs546889222
|
0.00001
|
NM_020778.5(ALPK3):c.1172C>T (p.Ser391Phe)
|
rs768234276
|
0.00001
|
NM_020778.5(ALPK3):c.1183A>G (p.Thr395Ala)
|
rs1285409508
|
0.00001
|
NM_020778.5(ALPK3):c.1236T>C (p.Tyr412=)
|
rs1963649648
|
0.00001
|
NM_020778.5(ALPK3):c.1286T>C (p.Leu429Pro)
|
rs115200412
|
0.00001
|
NM_020778.5(ALPK3):c.1374G>A (p.Gly458=)
|
rs778460334
|
0.00001
|
NM_020778.5(ALPK3):c.137A>G (p.Glu46Gly)
|
rs775198429
|
0.00001
|
NM_020778.5(ALPK3):c.1383C>T (p.Gly461=)
|
rs758092874
|
0.00001
|
NM_020778.5(ALPK3):c.1403A>T (p.His468Leu)
|
rs202163284
|
0.00001
|
NM_020778.5(ALPK3):c.1416C>G (p.Pro472=)
|
rs768817367
|
0.00001
|
NM_020778.5(ALPK3):c.1473G>A (p.Glu491=)
|
rs1168370877
|
0.00001
|
NM_020778.5(ALPK3):c.165T>A (p.Ser55=)
|
rs1963449536
|
0.00001
|
NM_020778.5(ALPK3):c.1692G>A (p.Ser564=)
|
rs549394061
|
0.00001
|
NM_020778.5(ALPK3):c.1721T>C (p.Ile574Thr)
|
rs767529202
|
0.00001
|
NM_020778.5(ALPK3):c.1765G>A (p.Asp589Asn)
|
rs146892833
|
0.00001
|
NM_020778.5(ALPK3):c.182+1G>A
|
rs1963449829
|
0.00001
|
NM_020778.5(ALPK3):c.1846A>G (p.Ile616Val)
|
rs753965640
|
0.00001
|
NM_020778.5(ALPK3):c.1888G>A (p.Ala630Thr)
|
rs188035818
|
0.00001
|
NM_020778.5(ALPK3):c.1961A>T (p.Asp654Val)
|
rs1027334963
|
0.00001
|
NM_020778.5(ALPK3):c.1992G>A (p.Gln664=)
|
rs779300928
|
0.00001
|
NM_020778.5(ALPK3):c.2011C>T (p.Leu671=)
|
rs1213635406
|
0.00001
|
NM_020778.5(ALPK3):c.2131C>T (p.Gln711Ter)
|
rs1295297874
|
0.00001
|
NM_020778.5(ALPK3):c.2134T>G (p.Ser712Ala)
|
rs571389749
|
0.00001
|
NM_020778.5(ALPK3):c.2147C>T (p.Ala716Val)
|
rs779674365
|
0.00001
|
NM_020778.5(ALPK3):c.2172T>G (p.Ser724=)
|
rs976322641
|
0.00001
|
NM_020778.5(ALPK3):c.21C>A (p.Pro7=)
|
rs1467594048
|
0.00001
|
NM_020778.5(ALPK3):c.2225C>T (p.Pro742Leu)
|
rs753733342
|
0.00001
|
NM_020778.5(ALPK3):c.2230A>G (p.Thr744Ala)
|
rs754504711
|
0.00001
|
NM_020778.5(ALPK3):c.2242A>G (p.Arg748Gly)
|
rs760584321
|
0.00001
|
NM_020778.5(ALPK3):c.230C>T (p.Pro77Leu)
|
rs372130536
|
0.00001
|
NM_020778.5(ALPK3):c.2324C>T (p.Ser775Phe)
|
rs1393483412
|
0.00001
|
NM_020778.5(ALPK3):c.2361G>A (p.Glu787=)
|
rs780330341
|
0.00001
|
NM_020778.5(ALPK3):c.2412G>A (p.Pro804=)
|
rs370157683
|
0.00001
|
NM_020778.5(ALPK3):c.2421G>A (p.Glu807=)
|
rs150546362
|
0.00001
|
NM_020778.5(ALPK3):c.2426G>A (p.Ser809Asn)
|
rs1220203156
|
0.00001
|
NM_020778.5(ALPK3):c.2430G>A (p.Val810=)
|
rs756727242
|
0.00001
|
NM_020778.5(ALPK3):c.24C>T (p.Ser8=)
|
rs1301150493
|
0.00001
|
NM_020778.5(ALPK3):c.2531C>T (p.Pro844Leu)
|
rs1240384484
|
0.00001
|
NM_020778.5(ALPK3):c.2536G>C (p.Gly846Arg)
|
rs202153052
|
0.00001
|
NM_020778.5(ALPK3):c.2544G>A (p.Pro848=)
|
rs558397946
|
0.00001
|
NM_020778.5(ALPK3):c.2571_2573del (p.Ala858del)
|
rs1963876658
|
0.00001
|
NM_020778.5(ALPK3):c.25C>A (p.Arg9=)
|
rs1401678016
|
0.00001
|
NM_020778.5(ALPK3):c.2657C>T (p.Thr886Ile)
|
rs1275702908
|
0.00001
|
NM_020778.5(ALPK3):c.2676G>T (p.Gly892=)
|
rs1402013349
|
0.00001
|
NM_020778.5(ALPK3):c.267C>T (p.Ser89=)
|
rs756601588
|
0.00001
|
NM_020778.5(ALPK3):c.26G>A (p.Arg9Gln)
|
rs759651543
|
0.00001
|
NM_020778.5(ALPK3):c.2727C>T (p.Ala909=)
|
rs746482983
|
0.00001
|
NM_020778.5(ALPK3):c.2738A>C (p.His913Pro)
|
rs1171103742
|
0.00001
|
NM_020778.5(ALPK3):c.276C>T (p.Ser92=)
|
rs778957791
|
0.00001
|
NM_020778.5(ALPK3):c.2798A>T (p.Glu933Val)
|
rs758445691
|
0.00001
|
NM_020778.5(ALPK3):c.279C>T (p.Asp93=)
|
rs567059923
|
0.00001
|
NM_020778.5(ALPK3):c.2807G>A (p.Cys936Tyr)
|
rs777884466
|
0.00001
|
NM_020778.5(ALPK3):c.2843G>A (p.Gly948Asp)
|
rs774855948
|
0.00001
|
NM_020778.5(ALPK3):c.2858A>T (p.Asp953Val)
|
rs1393907055
|
0.00001
|
NM_020778.5(ALPK3):c.2906A>C (p.Lys969Thr)
|
rs985027215
|
0.00001
|
NM_020778.5(ALPK3):c.2926A>G (p.Ser976Gly)
|
rs1874204001
|
0.00001
|
NM_020778.5(ALPK3):c.2978C>A (p.Pro993His)
|
rs1293398654
|
0.00001
|
NM_020778.5(ALPK3):c.2993C>T (p.Thr998Ile)
|
rs773997314
|
0.00001
|
NM_020778.5(ALPK3):c.3043C>T (p.Leu1015=)
|
rs1222913903
|
0.00001
|
NM_020778.5(ALPK3):c.3049C>T (p.Arg1017Cys)
|
rs771137848
|
0.00001
|
NM_020778.5(ALPK3):c.304G>A (p.Gly102Arg)
|
rs775149809
|
0.00001
|
NM_020778.5(ALPK3):c.3086C>A (p.Thr1029Asn)
|
rs1051437969
|
0.00001
|
NM_020778.5(ALPK3):c.3093G>C (p.Leu1031=)
|
rs752722020
|
0.00001
|
NM_020778.5(ALPK3):c.3112C>T (p.Arg1038Cys)
|
rs374436550
|
0.00001
|
NM_020778.5(ALPK3):c.3155G>A (p.Arg1052His)
|
rs980330574
|
0.00001
|
NM_020778.5(ALPK3):c.3161C>G (p.Ala1054Gly)
|
rs1209594795
|
0.00001
|
NM_020778.5(ALPK3):c.3166G>T (p.Ala1056Ser)
|
rs1031462793
|
0.00001
|
NM_020778.5(ALPK3):c.3196C>G (p.Pro1066Ala)
|
rs139722212
|
0.00001
|
NM_020778.5(ALPK3):c.3226G>A (p.Val1076Ile)
|
rs751943226
|
0.00001
|
NM_020778.5(ALPK3):c.3263C>T (p.Ala1088Val)
|
rs370119129
|
0.00001
|
NM_020778.5(ALPK3):c.3281A>G (p.Glu1094Gly)
|
rs1391823226
|
0.00001
|
NM_020778.5(ALPK3):c.3298C>G (p.Pro1100Ala)
|
rs1963888666
|
0.00001
|
NM_020778.5(ALPK3):c.3315C>T (p.Ala1105=)
|
rs1179803660
|
0.00001
|
NM_020778.5(ALPK3):c.331T>C (p.Tyr111His)
|
rs1040012286
|
0.00001
|
NM_020778.5(ALPK3):c.3340C>T (p.Arg1114Ter)
|
rs751041696
|
0.00001
|
NM_020778.5(ALPK3):c.3374G>A (p.Gly1125Glu)
|
rs748854704
|
0.00001
|
NM_020778.5(ALPK3):c.3393G>T (p.Glu1131Asp)
|
rs934462659
|
0.00001
|
NM_020778.5(ALPK3):c.3418G>A (p.Glu1140Lys)
|
rs752982998
|
0.00001
|
NM_020778.5(ALPK3):c.3451C>T (p.Leu1151Phe)
|
rs779886712
|
0.00001
|
NM_020778.5(ALPK3):c.3456G>A (p.Pro1152=)
|
rs773988814
|
0.00001
|
NM_020778.5(ALPK3):c.3470A>T (p.Glu1157Val)
|
rs777196267
|
0.00001
|
NM_020778.5(ALPK3):c.3490C>T (p.Arg1164Trp)
|
rs779709566
|
0.00001
|
NM_020778.5(ALPK3):c.3532G>A (p.Gly1178Arg)
|
rs377179290
|
0.00001
|
NM_020778.5(ALPK3):c.3570G>A (p.Thr1190=)
|
rs775935512
|
0.00001
|
NM_020778.5(ALPK3):c.3629G>A (p.Arg1210Gln)
|
rs776453848
|
0.00001
|
NM_020778.5(ALPK3):c.3635G>C (p.Arg1212Thr)
|
rs749791830
|
0.00001
|
NM_020778.5(ALPK3):c.3637C>T (p.Arg1213Cys)
|
rs140424493
|
0.00001
|
NM_020778.5(ALPK3):c.3648G>A (p.Thr1216=)
|
rs548203307
|
0.00001
|
NM_020778.5(ALPK3):c.3665G>A (p.Ser1222Asn)
|
rs1333183260
|
0.00001
|
NM_020778.5(ALPK3):c.3737G>A (p.Gly1246Asp)
|
rs1963898743
|
0.00001
|
NM_020778.5(ALPK3):c.3751G>T (p.Val1251Leu)
|
rs1198332004
|
0.00001
|
NM_020778.5(ALPK3):c.3796A>G (p.Lys1266Glu)
|
rs993911691
|
0.00001
|
NM_020778.5(ALPK3):c.3817+17G>A
|
rs748617763
|
0.00001
|
NM_020778.5(ALPK3):c.3818-8G>T
|
rs753198574
|
0.00001
|
NM_020778.5(ALPK3):c.3824A>G (p.Gln1275Arg)
|
rs1390037202
|
0.00001
|
NM_020778.5(ALPK3):c.3841C>T (p.Arg1281Trp)
|
rs370816513
|
0.00001
|
NM_020778.5(ALPK3):c.3846G>A (p.Val1282=)
|
rs1296977772
|
0.00001
|
NM_020778.5(ALPK3):c.3863C>T (p.Ala1288Val)
|
rs761697260
|
0.00001
|
NM_020778.5(ALPK3):c.3867C>T (p.Ser1289=)
|
rs188837127
|
0.00001
|
NM_020778.5(ALPK3):c.387T>C (p.Thr129=)
|
rs570471146
|
0.00001
|
NM_020778.5(ALPK3):c.3939G>C (p.Gln1313His)
|
rs935977042
|
0.00001
|
NM_020778.5(ALPK3):c.3966C>T (p.Ser1322=)
|
rs764601903
|
0.00001
|
NM_020778.5(ALPK3):c.3987G>A (p.Ala1329=)
|
rs766368279
|
0.00001
|
NM_020778.5(ALPK3):c.3999C>T (p.Ile1333=)
|
rs375271863
|
0.00001
|
NM_020778.5(ALPK3):c.4023C>T (p.Cys1341=)
|
rs745724880
|
0.00001
|
NM_020778.5(ALPK3):c.4034G>A (p.Arg1345Gln)
|
rs768456090
|
0.00001
|
NM_020778.5(ALPK3):c.4089T>C (p.Pro1363=)
|
rs768225211
|
0.00001
|
NM_020778.5(ALPK3):c.4093+20C>T
|
rs759623448
|
0.00001
|
NM_020778.5(ALPK3):c.4129+13C>G
|
rs372545530
|
0.00001
|
NM_020778.5(ALPK3):c.4129+13C>T
|
rs372545530
|
0.00001
|
NM_020778.5(ALPK3):c.4152C>T (p.Thr1384=)
|
rs955410854
|
0.00001
|
NM_020778.5(ALPK3):c.4165G>A (p.Ala1389Thr)
|
rs765113565
|
0.00001
|
NM_020778.5(ALPK3):c.4173T>A (p.Gly1391=)
|
rs946844546
|
0.00001
|
NM_020778.5(ALPK3):c.4174C>G (p.Leu1392Val)
|
rs771958254
|
0.00001
|
NM_020778.5(ALPK3):c.4191C>T (p.Cys1397=)
|
rs929049789
|
0.00001
|
NM_020778.5(ALPK3):c.4193G>T (p.Trp1398Leu)
|
rs756411505
|
0.00001
|
NM_020778.5(ALPK3):c.4213C>T (p.Arg1405Ter)
|
rs1344615174
|
0.00001
|
NM_020778.5(ALPK3):c.4214G>T (p.Arg1405Leu)
|
rs369709289
|
0.00001
|
NM_020778.5(ALPK3):c.422+14G>A
|
rs746635508
|
0.00001
|
NM_020778.5(ALPK3):c.423-8A>C
|
rs1318142876
|
0.00001
|
NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter)
|
rs1431206462
|
0.00001
|
NM_020778.5(ALPK3):c.4237G>A (p.Gly1413Arg)
|
rs775358435
|
0.00001
|
NM_020778.5(ALPK3):c.4241G>A (p.Gly1414Asp)
|
rs762937166
|
0.00001
|
NM_020778.5(ALPK3):c.4251G>A (p.Gly1417=)
|
rs763562436
|
0.00001
|
NM_020778.5(ALPK3):c.427C>T (p.Arg143Ter)
|
rs199599837
|
0.00001
|
NM_020778.5(ALPK3):c.4286T>C (p.Ile1429Thr)
|
rs547317664
|
0.00001
|
NM_020778.5(ALPK3):c.428G>A (p.Arg143Gln)
|
rs372329290
|
0.00001
|
NM_020778.5(ALPK3):c.4307T>A (p.Phe1436Tyr)
|
rs373233818
|
0.00001
|
NM_020778.5(ALPK3):c.4365C>G (p.Ser1455Arg)
|
rs1018928368
|
0.00001
|
NM_020778.5(ALPK3):c.4394A>G (p.Tyr1465Cys)
|
rs771616717
|
0.00001
|
NM_020778.5(ALPK3):c.4429A>G (p.Met1477Val)
|
rs373576199
|
0.00001
|
NM_020778.5(ALPK3):c.4431G>A (p.Met1477Ile)
|
rs1473386110
|
0.00001
|
NM_020778.5(ALPK3):c.4435C>T (p.Arg1479Trp)
|
rs776415532
|
0.00001
|
NM_020778.5(ALPK3):c.4438G>T (p.Glu1480Ter)
|
rs770334508
|
0.00001
|
NM_020778.5(ALPK3):c.4453T>C (p.Phe1485Leu)
|
rs371495524
|
0.00001
|
NM_020778.5(ALPK3):c.4456G>A (p.Ala1486Thr)
|
rs751953827
|
0.00001
|
NM_020778.5(ALPK3):c.4466C>T (p.Ala1489Val)
|
rs145438318
|
0.00001
|
NM_020778.5(ALPK3):c.4468C>T (p.Arg1490Trp)
|
rs376691515
|
0.00001
|
NM_020778.5(ALPK3):c.4475C>T (p.Ala1492Val)
|
rs538810746
|
0.00001
|
NM_020778.5(ALPK3):c.4481G>T (p.Gly1494Val)
|
rs746920220
|
0.00001
|
NM_020778.5(ALPK3):c.4500-9T>C
|
rs1452094547
|
0.00001
|
NM_020778.5(ALPK3):c.461C>T (p.Ala154Val)
|
rs913849174
|
0.00001
|
NM_020778.5(ALPK3):c.4622C>T (p.Pro1541Leu)
|
rs767340370
|
0.00001
|
NM_020778.5(ALPK3):c.4635C>T (p.Gly1545=)
|
rs756087057
|
0.00001
|
NM_020778.5(ALPK3):c.4723+15G>A
|
rs745949902
|
0.00001
|
NM_020778.5(ALPK3):c.4725G>T (p.Gly1575=)
|
rs746383287
|
0.00001
|
NM_020778.5(ALPK3):c.474G>A (p.Lys158=)
|
rs1247552007
|
0.00001
|
NM_020778.5(ALPK3):c.4768C>T (p.Arg1590Ter)
|
rs541612157
|
0.00001
|
NM_020778.5(ALPK3):c.4769G>A (p.Arg1590Gln)
|
rs1432141737
|
0.00001
|
NM_020778.5(ALPK3):c.477C>A (p.Gly159=)
|
rs372095639
|
0.00001
|
NM_020778.5(ALPK3):c.4781G>A (p.Gly1594Asp)
|
rs200262921
|
0.00001
|
NM_020778.5(ALPK3):c.4822G>A (p.Ala1608Thr)
|
rs763590744
|
0.00001
|
NM_020778.5(ALPK3):c.4847A>T (p.Tyr1616Phe)
|
rs1383160502
|
0.00001
|
NM_020778.5(ALPK3):c.4889C>T (p.Ala1630Val)
|
rs748424712
|
0.00001
|
NM_020778.5(ALPK3):c.4940G>A (p.Arg1647Lys)
|
rs772672818
|
0.00001
|
NM_020778.5(ALPK3):c.5030C>T (p.Thr1677Ile)
|
rs900944921
|
0.00001
|
NM_020778.5(ALPK3):c.5036A>G (p.Gln1679Arg)
|
rs576023680
|
0.00001
|
NM_020778.5(ALPK3):c.5043A>G (p.Ser1681=)
|
rs763159872
|
0.00001
|
NM_020778.5(ALPK3):c.5060A>C (p.Gln1687Pro)
|
rs781341096
|
0.00001
|
NM_020778.5(ALPK3):c.5096C>T (p.Ser1699Phe)
|
rs770515435
|
0.00001
|
NM_020778.5(ALPK3):c.5100G>C (p.Lys1700Asn)
|
rs1010741163
|
0.00001
|
NM_020778.5(ALPK3):c.512C>A (p.Thr171Asn)
|
rs774567371
|
0.00001
|
NM_020778.5(ALPK3):c.515T>G (p.Met172Arg)
|
rs767791247
|
0.00001
|
NM_020778.5(ALPK3):c.532C>T (p.His178Tyr)
|
rs892109121
|
0.00001
|
NM_020778.5(ALPK3):c.560G>T (p.Arg187Leu)
|
rs1314564648
|
0.00001
|
NM_020778.5(ALPK3):c.564G>A (p.Lys188=)
|
rs777335669
|
0.00001
|
NM_020778.5(ALPK3):c.57G>C (p.Ala19=)
|
rs1442468292
|
0.00001
|
NM_020778.5(ALPK3):c.581G>A (p.Arg194His)
|
rs1459767585
|
0.00001
|
NM_020778.5(ALPK3):c.591G>A (p.Glu197=)
|
rs770241858
|
0.00001
|
NM_020778.5(ALPK3):c.597C>T (p.Ser199=)
|
rs371762258
|
0.00001
|
NM_020778.5(ALPK3):c.59G>A (p.Gly20Glu)
|
rs1403282196
|
0.00001
|
NM_020778.5(ALPK3):c.606C>T (p.His202=)
|
rs376691348
|
0.00001
|
NM_020778.5(ALPK3):c.637C>T (p.Leu213=)
|
rs769309969
|
0.00001
|
NM_020778.5(ALPK3):c.648C>G (p.Leu216=)
|
rs142016958
|
0.00001
|
NM_020778.5(ALPK3):c.677G>A (p.Arg226Gln)
|
rs755804498
|
0.00001
|
NM_020778.5(ALPK3):c.703C>A (p.Pro235Thr)
|
rs1238212189
|
0.00001
|
NM_020778.5(ALPK3):c.705C>T (p.Pro235=)
|
rs761813254
|
0.00001
|
NM_020778.5(ALPK3):c.827C>G (p.Thr276Ser)
|
rs1963642557
|
0.00001
|
NM_020778.5(ALPK3):c.835G>T (p.Glu279Ter)
|
rs370072439
|
0.00001
|
NM_020778.5(ALPK3):c.861C>T (p.Asp287=)
|
rs1287657567
|
0.00001
|
NM_020778.5(ALPK3):c.863G>A (p.Gly288Glu)
|
rs142197641
|
0.00001
|
NM_020778.5(ALPK3):c.868C>T (p.His290Tyr)
|
rs1963643300
|
0.00001
|
NM_020778.5(ALPK3):c.899T>A (p.Met300Lys)
|
rs1283338715
|
0.00001
|
NM_020778.5(ALPK3):c.945G>C (p.Lys315Asn)
|
rs970840303
|
0.00001
|
NM_020778.5(ALPK3):c.96C>T (p.Pro32=)
|
rs1297411958
|
0.00001
|
GRCh37/hg19 15q25.3(chr15:85383145-85383839)x0
|
|
|
NC_000015.10:g.84816587_84816588dup
|
rs529219955
|
|
NC_000015.10:g.84816588del
|
rs529219955
|
|
NC_000015.10:g.84816588dup
|
rs529219955
|
|
NC_000015.10:g.84816937C>G
|
rs1963362942
|
|
NC_000015.10:g.84816946del
|
rs2141541516
|
|
NC_000015.10:g.84816962C>T
|
rs1189001595
|
|
NC_000015.10:g.84816982C>G
|
rs1470660128
|
|
NC_000015.10:g.84817011G>T
|
rs28416295
|
|
NC_000015.10:g.84817029C>T
|
rs769431148
|
|
NC_000015.10:g.84817044G>A
|
rs376798667
|
|
NC_000015.10:g.84817045G>C
|
rs767754656
|
|
NC_000015.10:g.84817072G>C
|
rs758170095
|
|
NC_000015.10:g.84817082G>C
|
rs2141541689
|
|
NC_000015.10:g.84817108G>A
|
rs2141541718
|
|
NC_000015.10:g.84817109A>T
|
rs2141541721
|
|
NC_000015.10:g.84817121G>T
|
rs779706830
|
|
NC_000015.10:g.84817132C>T
|
rs2141541757
|
|
NC_000015.10:g.84817147_84817156del
|
rs1963367421
|
|
NC_000015.10:g.84817183G>A
|
rs2141541816
|
|
NC_000015.10:g.84817228T>C
|
rs1425093369
|
|
NC_000015.10:g.84817271del
|
rs2141541923
|
|
NC_000015.10:g.84817275G>A
|
rs2141541938
|
|
NC_000015.10:g.84817284A>G
|
rs2141541955
|
|
NC_000015.10:g.84817301del
|
rs2141541974
|
|
NC_000015.10:g.84817330A>C
|
rs2141541996
|
|
NC_000015.10:g.84817349C>T
|
rs1754238791
|
|
NC_000015.10:g.84817352G>C
|
rs2141542012
|
|
NC_000015.9:g.(?_85360078)_(85366619_?)dup
|
|
|
NC_000015.9:g.(?_85360078)_(85411687_?)del
|
|
|
NC_000015.9:g.(?_85360078)_(85411687_?)dup
|
|
|
NC_000015.9:g.(?_85370695)_(85370856_?)del
|
|
|
NC_000015.9:g.(?_85382191)_(85411687_?)del
|
|
|
NC_000015.9:g.(?_85382191)_(85411687_?)dup
|
|
|
NC_000015.9:g.(?_85382963)_(85400831_?)dup
|
|
|
NC_000015.9:g.(?_85408956)_(85411660_?)del
|
|
|
NM_020778.4(ALPK3):c.112C>A (p.Leu38Ile)
|
|
|
NM_020778.4(ALPK3):c.119G>C (p.Arg40Pro)
|
|
|
NM_020778.4(ALPK3):c.119G>T (p.Arg40Leu)
|
|
|
NM_020778.4(ALPK3):c.123T>C (p.Ser41=)
|
|
|
NM_020778.4(ALPK3):c.126C>G (p.Ser42Arg)
|
|
|
NM_020778.4(ALPK3):c.126C>T (p.Ser42=)
|
|
|
NM_020778.4(ALPK3):c.130A>G (p.Ser44Gly)
|
|
|
NM_020778.4(ALPK3):c.137_142delCAGCGG (p.Pro46_Val48delinsLeu)
|
|
|
NM_020778.4(ALPK3):c.143T>C (p.Val48Ala)
|
|
|
NM_020778.4(ALPK3):c.144T>A (p.Val48=)
|
|
|
NM_020778.4(ALPK3):c.153_161dup (p.Pro55_Ala56insLeuAlaPro)
|
|
|
NM_020778.4(ALPK3):c.157C>G (p.Leu53Val)
|
|
|
NM_020778.4(ALPK3):c.15G>T (p.Trp5Cys)
|
|
|
NM_020778.4(ALPK3):c.162C>T (p.Ala54=)
|
|
|
NM_020778.4(ALPK3):c.164C>A (p.Pro55Gln)
|
|
|
NM_020778.4(ALPK3):c.164C>T (p.Pro55Leu)
|
|
|
NM_020778.4(ALPK3):c.176G>T (p.Arg59Leu)
|
|
|
NM_020778.4(ALPK3):c.184C>T (p.Leu62Phe)
|
|
|
NM_020778.4(ALPK3):c.197C>G (p.Thr66Arg)
|
|
|
NM_020778.4(ALPK3):c.199G>A (p.Gly67Arg)
|
|
|
NM_020778.4(ALPK3):c.205G>A (p.Glu69Lys)
|
|
|
NM_020778.4(ALPK3):c.205G>C (p.Glu69Gln)
|
|
|
NM_020778.4(ALPK3):c.208C>A (p.Gln70Lys)
|
|
|
NM_020778.4(ALPK3):c.218G>A (p.Arg73Gln)
|
|
|
NM_020778.4(ALPK3):c.220G>A (p.Glu74Lys)
|
|
|
NM_020778.4(ALPK3):c.223C>T (p.Pro75Ser)
|
|
|
NM_020778.4(ALPK3):c.229C>T (p.Pro77Ser)
|
|
|
NM_020778.4(ALPK3):c.243G>T (p.Thr81=)
|
rs1963366309
|
|
NM_020778.4(ALPK3):c.24_25delTGinsCC (p.Val9Leu)
|
|
|
NM_020778.4(ALPK3):c.250C>T (p.Pro84Ser)
|
|
|
NM_020778.4(ALPK3):c.257T>G (p.Leu86Arg)
|
rs369860557
|
|
NM_020778.4(ALPK3):c.273C>T (p.Thr91=)
|
|
|
NM_020778.4(ALPK3):c.290C>G (p.Pro97Arg)
|
|
|
NM_020778.4(ALPK3):c.293G>A (p.Arg98Lys)
|
|
|
NM_020778.4(ALPK3):c.298C>A (p.Pro100Thr)
|
|
|
NM_020778.4(ALPK3):c.300C>T (p.Pro100=)
|
|
|
NM_020778.4(ALPK3):c.317G>A (p.Arg106Gln)
|
|
|
NM_020778.4(ALPK3):c.317G>T (p.Arg106Leu)
|
|
|
NM_020778.4(ALPK3):c.324C>T (p.Tyr108=)
|
|
|
NM_020778.4(ALPK3):c.325T>C (p.Cys109Arg)
|
|
|
NM_020778.4(ALPK3):c.325T>G (p.Cys109Gly)
|
|
|
NM_020778.4(ALPK3):c.326G>C (p.Cys109Ser)
|
|
|
NM_020778.4(ALPK3):c.334C>T (p.Gln112Ter)
|
|
|
NM_020778.4(ALPK3):c.336G>A (p.Gln112=)
|
|
|
NM_020778.4(ALPK3):c.339C>T (p.Gly113=)
|
|
|
NM_020778.4(ALPK3):c.348G>A (p.Gly116=)
|
|
|
NM_020778.4(ALPK3):c.351C>T (p.Ser117=)
|
|
|
NM_020778.4(ALPK3):c.352G>A (p.Gly118Arg)
|
|
|
NM_020778.4(ALPK3):c.353G>C (p.Gly118Ala)
|
|
|
NM_020778.4(ALPK3):c.354A>C (p.Gly118=)
|
|
|
NM_020778.4(ALPK3):c.355C>A (p.Leu119Ile)
|
|
|
NM_020778.4(ALPK3):c.358G>A (p.Gly120Arg)
|
|
|
NM_020778.4(ALPK3):c.359G>C (p.Gly120Ala)
|
|
|
NM_020778.4(ALPK3):c.35A>G (p.Gln12Arg)
|
|
|
NM_020778.4(ALPK3):c.361G>A (p.Ala121Thr)
|
|
|
NM_020778.4(ALPK3):c.363C>G (p.Ala121=)
|
|
|
NM_020778.4(ALPK3):c.363C>T (p.Ala121=)
|
|
|
NM_020778.4(ALPK3):c.364G>C (p.Gly122Arg)
|
|
|
NM_020778.4(ALPK3):c.370G>T (p.Gly124Trp)
|
|
|
NM_020778.4(ALPK3):c.37C>T (p.Gln13Ter)
|
|
|
NM_020778.4(ALPK3):c.381A>G (p.Thr127=)
|
|
|
NM_020778.4(ALPK3):c.381A>T (p.Thr127=)
|
|
|
NM_020778.4(ALPK3):c.389C>A (p.Pro130Gln)
|
|
|
NM_020778.4(ALPK3):c.391G>T (p.Ala131Ser)
|
|
|
NM_020778.4(ALPK3):c.394C>T (p.Pro132Ser)
|
|
|
NM_020778.4(ALPK3):c.395C>T (p.Pro132Leu)
|
|
|
NM_020778.4(ALPK3):c.398C>T (p.Pro133Leu)
|
|
|
NM_020778.4(ALPK3):c.399delC (p.Gly134Alafs)
|
|
|
NM_020778.4(ALPK3):c.399dup (p.Gly134Argfs)
|
rs769496975
|
|
NM_020778.4(ALPK3):c.402C>A (p.Gly134=)
|
|
|
NM_020778.4(ALPK3):c.405C>T (p.Val135=)
|
|
|
NM_020778.4(ALPK3):c.407C>T (p.Ser136Phe)
|
|
|
NM_020778.4(ALPK3):c.415C>T (p.Arg139Cys)
|
|
|
NM_020778.4(ALPK3):c.419G>C (p.Cys140Ser)
|
|
|
NM_020778.4(ALPK3):c.422C>G (p.Pro141Arg)
|
|
|
NM_020778.4(ALPK3):c.423G>C (p.Pro141=)
|
|
|
NM_020778.4(ALPK3):c.423G>T (p.Pro141=)
|
|
|
NM_020778.4(ALPK3):c.425G>A (p.Gly142Asp)
|
|
|
NM_020778.4(ALPK3):c.431C>T (p.Ala144Val)
|
|
|
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs)
|
rs527847958
|
|
NM_020778.4(ALPK3):c.433A>C (p.Arg145=)
|
|
|
NM_020778.4(ALPK3):c.437C>G (p.Pro146Arg)
|
|
|
NM_020778.4(ALPK3):c.437C>T (p.Pro146Leu)
|
|
|
NM_020778.4(ALPK3):c.438A>C (p.Pro146=)
|
|
|
NM_020778.4(ALPK3):c.439G>C (p.Gly147Arg)
|
|
|
NM_020778.4(ALPK3):c.441G>C (p.Gly147=)
|
|
|
NM_020778.4(ALPK3):c.442G>A (p.Glu148Lys)
|
|
|
NM_020778.4(ALPK3):c.444G>A (p.Glu148=)
|
|
|
NM_020778.4(ALPK3):c.457G>A (p.Val153Met)
|
|
|
NM_020778.4(ALPK3):c.462G>A (p.Thr154=)
|
|
|
NM_020778.4(ALPK3):c.46G>A (p.Ala16Thr)
|
|
|
NM_020778.4(ALPK3):c.472C>T (p.Pro158Ser)
|
|
|
NM_020778.4(ALPK3):c.473_485dup (p.Arg163Thrfs)
|
|
|
NM_020778.4(ALPK3):c.474A>G (p.Pro158=)
|
|
|
NM_020778.4(ALPK3):c.489G>C (p.Arg163Ser)
|
|
|
NM_020778.4(ALPK3):c.48G>A (p.Ala16=)
|
|
|
NM_020778.4(ALPK3):c.493G>A (p.Ala165Thr)
|
|
|
NM_020778.4(ALPK3):c.497G>A (p.Arg166His)
|
|
|
NM_020778.4(ALPK3):c.4G>A (p.Glu2Lys)
|
|
|
NM_020778.4(ALPK3):c.507G>A (p.Arg169=)
|
|
|
NM_020778.4(ALPK3):c.71G>A (p.Arg24Gln)
|
|
|
NM_020778.4(ALPK3):c.71G>C (p.Arg24Pro)
|
|
|
NM_020778.4(ALPK3):c.76G>A (p.Val26Met)
|
|
|
NM_020778.4(ALPK3):c.80C>G (p.Pro27Arg)
|
|
|
NM_020778.5(ALPK3):c.-10G>T
|
rs1057523686
|
|
NM_020778.5(ALPK3):c.-15G>A
|
|
|
NM_020778.5(ALPK3):c.-16C>T
|
|
|
NM_020778.5(ALPK3):c.-22G>T
|
|
|
NM_020778.5(ALPK3):c.-28G>C
|
|
|
NM_020778.5(ALPK3):c.-29C>G
|
|
|
NM_020778.5(ALPK3):c.-35C>A
|
|
|
NM_020778.5(ALPK3):c.-36G>A
|
|
|
NM_020778.5(ALPK3):c.-42G>A
|
|
|
NM_020778.5(ALPK3):c.-45G>A
|
|
|
NM_020778.5(ALPK3):c.-4T>A
|
|
|
NM_020778.5(ALPK3):c.-56_-55delinsCT
|
|
|
NM_020778.5(ALPK3):c.-66G>T
|
|
|
NM_020778.5(ALPK3):c.-66del
|
rs974266035
|
|
NM_020778.5(ALPK3):c.-69G>A
|
|
|
NM_020778.5(ALPK3):c.-6_17del (p.Met1fs)
|
|
|
NM_020778.5(ALPK3):c.-71C>T
|
|
|
NM_020778.5(ALPK3):c.-72C>T
|
rs1201549017
|
|
NM_020778.5(ALPK3):c.-74G>T
|
rs1444549839
|
|
NM_020778.5(ALPK3):c.-76G>C
|
|
|
NM_020778.5(ALPK3):c.-78A>C
|
|
|
NM_020778.5(ALPK3):c.-79_-78insG
|
|
|
NM_020778.5(ALPK3):c.-80del
|
|
|
NM_020778.5(ALPK3):c.-83C>G
|
|
|
NM_020778.5(ALPK3):c.-83C>T
|
|
|
NM_020778.5(ALPK3):c.-85G>A
|
|
|
NM_020778.5(ALPK3):c.-85G>T
|
|
|
NM_020778.5(ALPK3):c.-8G>A
|
rs2141542128
|
|
NM_020778.5(ALPK3):c.-94_-92dup
|
rs2141542019
|
|
NM_020778.5(ALPK3):c.1001A>C (p.Lys334Thr)
|
|
|
NM_020778.5(ALPK3):c.1009C>T (p.Gln337Ter)
|
rs1567089714
|
|
NM_020778.5(ALPK3):c.1013G>T (p.Ser338Ile)
|
|
|
NM_020778.5(ALPK3):c.1015C>A (p.Arg339Ser)
|
|
|
NM_020778.5(ALPK3):c.1015C>G (p.Arg339Gly)
|
|
|
NM_020778.5(ALPK3):c.1017C>A (p.Arg339=)
|
rs1038938286
|
|
NM_020778.5(ALPK3):c.1020T>C (p.Arg340=)
|
rs1246271924
|
|
NM_020778.5(ALPK3):c.1024T>C (p.Ser342Pro)
|
|
|
NM_020778.5(ALPK3):c.1026A>G (p.Ser342=)
|
|
|
NM_020778.5(ALPK3):c.1036_1039dup (p.Pro347fs)
|
|
|
NM_020778.5(ALPK3):c.1043G>A (p.Ser348Asn)
|
rs2141556874
|
|
NM_020778.5(ALPK3):c.1044C>T (p.Ser348=)
|
|
|
NM_020778.5(ALPK3):c.1050C>G (p.Asp350Glu)
|
|
|
NM_020778.5(ALPK3):c.1051G>A (p.Glu351Lys)
|
|
|
NM_020778.5(ALPK3):c.1051G>C (p.Glu351Gln)
|
rs374922996
|
|
NM_020778.5(ALPK3):c.1054C>T (p.Pro352Ser)
|
|
|
NM_020778.5(ALPK3):c.1056T>A (p.Pro352=)
|
|
|
NM_020778.5(ALPK3):c.105C>A (p.Ala35=)
|
|
|
NM_020778.5(ALPK3):c.1061C>T (p.Ser354Phe)
|
|
|
NM_020778.5(ALPK3):c.1072C>T (p.Gln358Ter)
|
|
|
NM_020778.5(ALPK3):c.1073_1074del (p.Gln358fs)
|
|
|
NM_020778.5(ALPK3):c.1077G>T (p.Gly359=)
|
|
|
NM_020778.5(ALPK3):c.107G>A (p.Ser36Asn)
|
|
|
NM_020778.5(ALPK3):c.1082T>A (p.Val361Glu)
|
rs2141556916
|
|
NM_020778.5(ALPK3):c.108C>T (p.Ser36=)
|
|
|
NM_020778.5(ALPK3):c.1093C>A (p.Gln365Lys)
|
|
|
NM_020778.5(ALPK3):c.1107G>T (p.Gln369His)
|
|
|
NM_020778.5(ALPK3):c.110G>A (p.Arg37Gln)
|
|
|
NM_020778.5(ALPK3):c.1114G>A (p.Gly372Ser)
|
rs2141556931
|
|
NM_020778.5(ALPK3):c.1114G>C (p.Gly372Arg)
|
|
|
NM_020778.5(ALPK3):c.1125A>G (p.Ala375=)
|
|
|
NM_020778.5(ALPK3):c.1127G>A (p.Arg376Gln)
|
rs755210023
|
|
NM_020778.5(ALPK3):c.1128G>A (p.Arg376=)
|
|
|
NM_020778.5(ALPK3):c.1130_1131delinsAC (p.Gly377Asp)
|
|
|
NM_020778.5(ALPK3):c.1131G>T (p.Gly377=)
|
|
|
NM_020778.5(ALPK3):c.1131del (p.Pro378fs)
|
|
|
NM_020778.5(ALPK3):c.1132C>T (p.Pro378Ser)
|
|
|
NM_020778.5(ALPK3):c.1133C>T (p.Pro378Leu)
|
|
|
NM_020778.5(ALPK3):c.1136G>T (p.Gly379Val)
|
rs2141556967
|
|
NM_020778.5(ALPK3):c.1142C>G (p.Ser381Cys)
|
|
|
NM_020778.5(ALPK3):c.114C>T (p.Ser38=)
|
rs2141542294
|
|
NM_020778.5(ALPK3):c.1175C>T (p.Ala392Val)
|
|
|
NM_020778.5(ALPK3):c.1186C>T (p.Pro396Ser)
|
|
|
NM_020778.5(ALPK3):c.11G>T (p.Arg4Leu)
|
|
|
NM_020778.5(ALPK3):c.1204G>T (p.Ala402Ser)
|
|
|
NM_020778.5(ALPK3):c.1214CAGGCC[3] (p.403PG[4])
|
rs755561788
|
|
NM_020778.5(ALPK3):c.1217G>A (p.Gly406Asp)
|
|
|
NM_020778.5(ALPK3):c.1223G>A (p.Gly408Asp)
|
|
|
NM_020778.5(ALPK3):c.1224C>T (p.Gly408=)
|
|
|
NM_020778.5(ALPK3):c.1226A>C (p.Gln409Pro)
|
|
|
NM_020778.5(ALPK3):c.1226A>T (p.Gln409Leu)
|
rs765187060
|
|
NM_020778.5(ALPK3):c.1232_1248del (p.Val411fs)
|
|
|
NM_020778.5(ALPK3):c.1237T>G (p.Phe413Val)
|
rs1596150023
|
|
NM_020778.5(ALPK3):c.1241C>G (p.Ser414Cys)
|
rs758630539
|
|
NM_020778.5(ALPK3):c.1253T>C (p.Met418Thr)
|
|
|
NM_020778.5(ALPK3):c.1258C>G (p.Leu420Val)
|
|
|
NM_020778.5(ALPK3):c.1259T>A (p.Leu420Gln)
|
|
|
NM_020778.5(ALPK3):c.126C>A (p.Ser42Arg)
|
rs909121019
|
|
NM_020778.5(ALPK3):c.126C>G (p.Ser42Arg)
|
|
|
NM_020778.5(ALPK3):c.1275A>G (p.Ala425=)
|
|
|
NM_020778.5(ALPK3):c.127G>A (p.Val43Met)
|
|
|
NM_020778.5(ALPK3):c.1284T>C (p.Pro428=)
|
|
|
NM_020778.5(ALPK3):c.1285C>T (p.Leu429Phe)
|
|
|
NM_020778.5(ALPK3):c.1288G>T (p.Gly430Trp)
|
rs2141557079
|
|
NM_020778.5(ALPK3):c.1289G>C (p.Gly430Ala)
|
|
|
NM_020778.5(ALPK3):c.1303C>A (p.Gln435Lys)
|
|
|
NM_020778.5(ALPK3):c.1313G>A (p.Ser438Asn)
|
|
|
NM_020778.5(ALPK3):c.1316T>C (p.Val439Ala)
|
|
|
NM_020778.5(ALPK3):c.1317C>T (p.Val439=)
|
|
|
NM_020778.5(ALPK3):c.1318C>T (p.Arg440Trp)
|
|
|
NM_020778.5(ALPK3):c.1318_1319del (p.Arg440fs)
|
|
|
NM_020778.5(ALPK3):c.1319G>A (p.Arg440Gln)
|
|
|
NM_020778.5(ALPK3):c.131G>C (p.Arg44Pro)
|
rs1963375355
|
|
NM_020778.5(ALPK3):c.131G>T (p.Arg44Leu)
|
|
|
NM_020778.5(ALPK3):c.1329G>T (p.Gly443=)
|
|
|
NM_020778.5(ALPK3):c.132G>T (p.Arg44=)
|
|
|
NM_020778.5(ALPK3):c.1334G>A (p.Ser445Asn)
|
|
|
NM_020778.5(ALPK3):c.1342G>A (p.Gly448Arg)
|
rs750284989
|
|
NM_020778.5(ALPK3):c.1348G>A (p.Ala450Thr)
|
|
|
NM_020778.5(ALPK3):c.1352C>T (p.Pro451Leu)
|
|
|
NM_020778.5(ALPK3):c.135C>G (p.Pro45=)
|
rs369591811
|
|
NM_020778.5(ALPK3):c.135_143+12del
|
|
|
NM_020778.5(ALPK3):c.135dup (p.Glu46fs)
|
|
|
NM_020778.5(ALPK3):c.1360G>T (p.Ala454Ser)
|
rs2141557145
|
|
NM_020778.5(ALPK3):c.1369G>A (p.Glu457Lys)
|
rs2141557154
|
|
NM_020778.5(ALPK3):c.136G>A (p.Glu46Lys)
|
rs2141542332
|
|
NM_020778.5(ALPK3):c.1375G>T (p.Val459Leu)
|
|
|
NM_020778.5(ALPK3):c.137A>T (p.Glu46Val)
|
|
|
NM_020778.5(ALPK3):c.1383_1384delinsAC (p.Ala462Pro)
|
|
|
NM_020778.5(ALPK3):c.1384G>A (p.Ala462Thr)
|
|
|
NM_020778.5(ALPK3):c.1387C>G (p.Pro463Ala)
|
|
|
NM_020778.5(ALPK3):c.1406C>T (p.Ser469Phe)
|
|
|
NM_020778.5(ALPK3):c.1410G>T (p.Leu470Phe)
|
|
|
NM_020778.5(ALPK3):c.1412C>A (p.Thr471Asn)
|
|
|
NM_020778.5(ALPK3):c.1412C>G (p.Thr471Ser)
|
|
|
NM_020778.5(ALPK3):c.1413C>A (p.Thr471=)
|
|
|
NM_020778.5(ALPK3):c.1413C>T (p.Thr471=)
|
|
|
NM_020778.5(ALPK3):c.1417del (p.Gln473fs)
|
rs769139957
|
|
NM_020778.5(ALPK3):c.1417dup (p.Gln473fs)
|
rs769139957
|
|
NM_020778.5(ALPK3):c.1421_1422insCACACACTCCTTGACCCTCCAGCC (p.Thr475_Arg476insHisSerLeuThrLeuGlnProThr)
|
|
|
NM_020778.5(ALPK3):c.1422G>A (p.Pro474=)
|
rs147228539
|
|
NM_020778.5(ALPK3):c.143+18G>A
|
|
|
NM_020778.5(ALPK3):c.143+1G>A
|
|
|
NM_020778.5(ALPK3):c.143+6T>C
|
|
|
NM_020778.5(ALPK3):c.143+8G>C
|
|
|
NM_020778.5(ALPK3):c.1433T>A (p.Phe478Tyr)
|
|
|
NM_020778.5(ALPK3):c.1438del (p.Arg480fs)
|
rs1963653131
|
|
NM_020778.5(ALPK3):c.144-14C>T
|
|
|
NM_020778.5(ALPK3):c.144-15G>A
|
rs998807667
|
|
NM_020778.5(ALPK3):c.144-15G>T
|
|
|
NM_020778.5(ALPK3):c.144-4T>G
|
|
|
NM_020778.5(ALPK3):c.144-5C>T
|
|
|
NM_020778.5(ALPK3):c.144-8T>C
|
|
|
NM_020778.5(ALPK3):c.1443G>T (p.Lys481Asn)
|
|
|
NM_020778.5(ALPK3):c.1452C>T (p.Ala484=)
|
|
|
NM_020778.5(ALPK3):c.1455T>C (p.Pro485=)
|
rs2141557258
|
|
NM_020778.5(ALPK3):c.1456C>G (p.Pro486Ala)
|
rs1167204252
|
|
NM_020778.5(ALPK3):c.1469G>T (p.Gly490Val)
|
|
|
NM_020778.5(ALPK3):c.1471G>A (p.Glu491Lys)
|
rs1340943180
|
|
NM_020778.5(ALPK3):c.1473G>C (p.Glu491Asp)
|
|
|
NM_020778.5(ALPK3):c.1478C>T (p.Thr493Ile)
|
rs2141557297
|
|
NM_020778.5(ALPK3):c.157C>A (p.Arg53=)
|
|
|
NM_020778.5(ALPK3):c.157C>T (p.Arg53Trp)
|
|
|
NM_020778.5(ALPK3):c.1654-2A>C
|
rs2141567039
|
|
NM_020778.5(ALPK3):c.1659G>A (p.Leu553=)
|
|
|
NM_020778.5(ALPK3):c.1663T>A (p.Cys555Ser)
|
|
|
NM_020778.5(ALPK3):c.1674C>T (p.Thr558=)
|
|
|
NM_020778.5(ALPK3):c.1677G>A (p.Thr559=)
|
|
|
NM_020778.5(ALPK3):c.1678G>A (p.Ala560Thr)
|
|
|
NM_020778.5(ALPK3):c.1680T>C (p.Ala560=)
|
|
|
NM_020778.5(ALPK3):c.1681C>T (p.Pro561Ser)
|
|
|
NM_020778.5(ALPK3):c.1685C>T (p.Thr562Ile)
|
rs772032580
|
|
NM_020778.5(ALPK3):c.1686C>T (p.Thr562=)
|
|
|
NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr)
|
rs150028343
|
|
NM_020778.5(ALPK3):c.1688T>G (p.Met563Arg)
|
rs150028343
|
|
NM_020778.5(ALPK3):c.168C>T (p.His56=)
|
|
|
NM_020778.5(ALPK3):c.16G>C (p.Ala6Pro)
|
|
|
NM_020778.5(ALPK3):c.1701C>A (p.Ser567Arg)
|
|
|
NM_020778.5(ALPK3):c.1711G>A (p.Val571Ile)
|
|
|
NM_020778.5(ALPK3):c.1712T>C (p.Val571Ala)
|
rs2141567118
|
|
NM_020778.5(ALPK3):c.1713A>G (p.Val571=)
|
|
|
NM_020778.5(ALPK3):c.1720A>T (p.Ile574Phe)
|
|
|
NM_020778.5(ALPK3):c.1726G>T (p.Val576Phe)
|
|
|
NM_020778.5(ALPK3):c.1733C>T (p.Thr578Ile)
|
|
|
NM_020778.5(ALPK3):c.1750A>G (p.Ile584Val)
|
|
|
NM_020778.5(ALPK3):c.1754T>C (p.Ile585Thr)
|
rs2141567160
|
|
NM_020778.5(ALPK3):c.1755T>C (p.Ile585=)
|
|
|
NM_020778.5(ALPK3):c.1756G>A (p.Glu586Lys)
|
|
|
NM_020778.5(ALPK3):c.1768A>T (p.Met590Leu)
|
|
|
NM_020778.5(ALPK3):c.1770G>A (p.Met590Ile)
|
|
|
NM_020778.5(ALPK3):c.1788G>A (p.Gly596=)
|
|
|
NM_020778.5(ALPK3):c.1795T>C (p.Ser599Pro)
|
|
|
NM_020778.5(ALPK3):c.1804C>T (p.Gln602Ter)
|
rs1442250413
|
|
NM_020778.5(ALPK3):c.1811C>A (p.Thr604Asn)
|
|
|
NM_020778.5(ALPK3):c.182+7G>A
|
|
|
NM_020778.5(ALPK3):c.1820A>G (p.Lys607Arg)
|
|
|
NM_020778.5(ALPK3):c.1821G>A (p.Lys607=)
|
|
|
NM_020778.5(ALPK3):c.182G>A (p.Arg61Lys)
|
|
|
NM_020778.5(ALPK3):c.183-16_183-15delinsAT
|
rs2141548766
|
|
NM_020778.5(ALPK3):c.183-17C>G
|
|
|
NM_020778.5(ALPK3):c.183-1G>A
|
|
|
NM_020778.5(ALPK3):c.183-3T>G
|
|
|
NM_020778.5(ALPK3):c.183-7C>G
|
|
|
NM_020778.5(ALPK3):c.183-9C>A
|
|
|
NM_020778.5(ALPK3):c.1830G>A (p.Val610=)
|
|
|
NM_020778.5(ALPK3):c.1836A>G (p.Ala612=)
|
rs1342619273
|
|
NM_020778.5(ALPK3):c.1837G>A (p.Asp613Asn)
|
rs766592149
|
|
NM_020778.5(ALPK3):c.1840G>A (p.Gly614Arg)
|
|
|
NM_020778.5(ALPK3):c.1845G>A (p.Lys615=)
|
|
|
NM_020778.5(ALPK3):c.1848A>G (p.Ile616Met)
|
|
|
NM_020778.5(ALPK3):c.1850A>G (p.Gln617Arg)
|
|
|
NM_020778.5(ALPK3):c.1853T>C (p.Val618Ala)
|
|
|
NM_020778.5(ALPK3):c.1856A>T (p.Asp619Val)
|
|
|
NM_020778.5(ALPK3):c.1862G>A (p.Arg621Lys)
|
|
|
NM_020778.5(ALPK3):c.1866C>T (p.Thr622=)
|
rs2141567277
|
|
NM_020778.5(ALPK3):c.186C>A (p.Ser62Arg)
|
|
|
NM_020778.5(ALPK3):c.1891C>T (p.Gln631Ter)
|
|
|
NM_020778.5(ALPK3):c.1901G>A (p.Arg634His)
|
rs34906636
|
|
NM_020778.5(ALPK3):c.1918C>T (p.Gln640Ter)
|
|
|
NM_020778.5(ALPK3):c.1921G>A (p.Val641Met)
|
|
|
NM_020778.5(ALPK3):c.1922T>G (p.Val641Gly)
|
|
|
NM_020778.5(ALPK3):c.1928C>G (p.Ala643Gly)
|
|
|
NM_020778.5(ALPK3):c.1928C>T (p.Ala643Val)
|
|
|
NM_020778.5(ALPK3):c.1942A>G (p.Ser648Gly)
|
rs2141567342
|
|
NM_020778.5(ALPK3):c.1943G>A (p.Ser648Asn)
|
|
|
NM_020778.5(ALPK3):c.1943G>C (p.Ser648Thr)
|
rs754100615
|
|
NM_020778.5(ALPK3):c.1958C>G (p.Ser653Ter)
|
|
|
NM_020778.5(ALPK3):c.1962C>T (p.Asp654=)
|
|
|
NM_020778.5(ALPK3):c.1967G>A (p.Ser656Asn)
|
|
|
NM_020778.5(ALPK3):c.1986G>A (p.Met662Ile)
|
|
|
NM_020778.5(ALPK3):c.1988C>T (p.Thr663Ile)
|
|
|
NM_020778.5(ALPK3):c.199A>G (p.Ile67Val)
|
|
|
NM_020778.5(ALPK3):c.19C>A (p.Pro7Thr)
|
rs1963372992
|
|
NM_020778.5(ALPK3):c.2002G>C (p.Glu668Gln)
|
|
|
NM_020778.5(ALPK3):c.2005A>G (p.Thr669Ala)
|
|
|
NM_020778.5(ALPK3):c.2022A>G (p.Thr674=)
|
|
|
NM_020778.5(ALPK3):c.2026G>T (p.Ala676Ser)
|
|
|
NM_020778.5(ALPK3):c.203T>C (p.Ile68Thr)
|
|
|
NM_020778.5(ALPK3):c.2043_2044delinsCT (p.Gln681_Glu682delinsHisTer)
|
rs2141567430
|
|
NM_020778.5(ALPK3):c.2056G>A (p.Ala686Thr)
|
|
|
NM_020778.5(ALPK3):c.2056G>C (p.Ala686Pro)
|
|
|
NM_020778.5(ALPK3):c.206C>T (p.Ala69Val)
|
rs966823226
|
|
NM_020778.5(ALPK3):c.2070G>A (p.Lys690=)
|
|
|
NM_020778.5(ALPK3):c.2072G>A (p.Gly691Asp)
|
|
|
NM_020778.5(ALPK3):c.2077C>G (p.Gln693Glu)
|
|
|
NM_020778.5(ALPK3):c.208C>T (p.Gln70Ter)
|
|
|
NM_020778.5(ALPK3):c.2093T>G (p.Met698Arg)
|
rs1963867504
|
|
NM_020778.5(ALPK3):c.2093TGCAGGGAGAGAAGGGGA[1] (p.698MQGEKG[1])
|
rs759322802
|
|
NM_020778.5(ALPK3):c.2093TGCAGGGAGAGAAGGGGA[3] (p.Gly709_Thr710insMetGlnGlyGluLysGly)
|
|
|
NM_020778.5(ALPK3):c.2094G>A (p.Met698Ile)
|
|
|
NM_020778.5(ALPK3):c.2094G>T (p.Met698Ile)
|
|
|
NM_020778.5(ALPK3):c.2095C>T (p.Gln699Ter)
|
|
|
NM_020778.5(ALPK3):c.2109G>C (p.Gly703=)
|
rs1374187352
|
|
NM_020778.5(ALPK3):c.2117G>T (p.Gly706Val)
|
|
|
NM_020778.5(ALPK3):c.2123del (p.Lys708fs)
|
|
|
NM_020778.5(ALPK3):c.2124G>C (p.Lys708Asn)
|
|
|
NM_020778.5(ALPK3):c.2127del (p.Thr710fs)
|
rs1963867873
|
|
NM_020778.5(ALPK3):c.2129C>T (p.Thr710Met)
|
|
|
NM_020778.5(ALPK3):c.2130G>A (p.Thr710=)
|
rs147611382
|
|
NM_020778.5(ALPK3):c.213C>A (p.Leu71=)
|
|
|
NM_020778.5(ALPK3):c.2142G>A (p.Gly714=)
|
|
|
NM_020778.5(ALPK3):c.2145C>T (p.Ser715=)
|
|
|
NM_020778.5(ALPK3):c.2153C>T (p.Thr718Ile)
|
|
|
NM_020778.5(ALPK3):c.2157C>A (p.Ala719=)
|
rs1165760143
|
|
NM_020778.5(ALPK3):c.2158A>T (p.Met720Leu)
|
|
|
NM_020778.5(ALPK3):c.215C>T (p.Thr72Ile)
|
rs781502917
|
|
NM_020778.5(ALPK3):c.2164G>T (p.Gly722Cys)
|
|
|
NM_020778.5(ALPK3):c.2166T>A (p.Gly722=)
|
|
|
NM_020778.5(ALPK3):c.2181G>A (p.Glu727=)
|
|
|
NM_020778.5(ALPK3):c.2183T>A (p.Val728Glu)
|
|
|
NM_020778.5(ALPK3):c.2186C>T (p.Ala729Val)
|
|
|
NM_020778.5(ALPK3):c.2190C>G (p.Thr730=)
|
|
|
NM_020778.5(ALPK3):c.2197G>A (p.Gly733Ser)
|
rs34443853
|
|
NM_020778.5(ALPK3):c.2198G>T (p.Gly733Val)
|
|
|
NM_020778.5(ALPK3):c.2200C>T (p.Pro734Ser)
|
rs1295230054
|
|
NM_020778.5(ALPK3):c.2211A>G (p.Arg737=)
|
|
|
NM_020778.5(ALPK3):c.2218A>T (p.Lys740Ter)
|
rs2141567598
|
|
NM_020778.5(ALPK3):c.2221C>T (p.Leu741Phe)
|
|
|
NM_020778.5(ALPK3):c.2223C>G (p.Leu741=)
|
rs138935453
|
|
NM_020778.5(ALPK3):c.2232A>G (p.Thr744=)
|
rs2141567616
|
|
NM_020778.5(ALPK3):c.2235G>A (p.Ala745=)
|
|
|
NM_020778.5(ALPK3):c.2237del (p.Gly746fs)
|
rs1596155145
|
|
NM_020778.5(ALPK3):c.2238T>A (p.Gly746=)
|
|
|
NM_020778.5(ALPK3):c.2244dup (p.Ala749fs)
|
|
|
NM_020778.5(ALPK3):c.2267T>C (p.Phe756Ser)
|
|
|
NM_020778.5(ALPK3):c.2272C>A (p.Gln758Lys)
|
|
|
NM_020778.5(ALPK3):c.2275A>G (p.Thr759Ala)
|
|
|
NM_020778.5(ALPK3):c.2281G>C (p.Glu761Gln)
|
|
|
NM_020778.5(ALPK3):c.2284G>A (p.Gly762Arg)
|
|
|
NM_020778.5(ALPK3):c.2285G>A (p.Gly762Glu)
|
rs267604353
|
|
NM_020778.5(ALPK3):c.2285G>T (p.Gly762Val)
|
|
|
NM_020778.5(ALPK3):c.2299A>G (p.Lys767Glu)
|
|
|
NM_020778.5(ALPK3):c.2304A>T (p.Lys768Asn)
|
|
|
NM_020778.5(ALPK3):c.2306C>G (p.Pro769Arg)
|
|
|
NM_020778.5(ALPK3):c.231G>A (p.Pro77=)
|
|
|
NM_020778.5(ALPK3):c.2331G>A (p.Glu777=)
|
rs1963871731
|
|
NM_020778.5(ALPK3):c.2336T>C (p.Val779Ala)
|
|
|
NM_020778.5(ALPK3):c.2339T>C (p.Val780Ala)
|
|
|
NM_020778.5(ALPK3):c.233T>C (p.Leu78Pro)
|
|
|
NM_020778.5(ALPK3):c.2342C>T (p.Thr781Ile)
|
|
|
NM_020778.5(ALPK3):c.2344G>A (p.Ala782Thr)
|
|
|
NM_020778.5(ALPK3):c.2346C>T (p.Ala782=)
|
|
|
NM_020778.5(ALPK3):c.2346del (p.Ser783fs)
|
|
|
NM_020778.5(ALPK3):c.234A>T (p.Leu78=)
|
rs2141548849
|
|
NM_020778.5(ALPK3):c.2357A>G (p.His786Arg)
|
|
|
NM_020778.5(ALPK3):c.2358T>A (p.His786Gln)
|
|
|
NM_020778.5(ALPK3):c.2365A>T (p.Thr789Ser)
|
|
|
NM_020778.5(ALPK3):c.2366C>G (p.Thr789Ser)
|
|
|
NM_020778.5(ALPK3):c.2368G>A (p.Val790Met)
|
rs1472038881
|
|
NM_020778.5(ALPK3):c.2370G>T (p.Val790=)
|
rs1409282044
|
|
NM_020778.5(ALPK3):c.2376T>A (p.Gly792=)
|
rs1057524352
|
|
NM_020778.5(ALPK3):c.2377C>T (p.Pro793Ser)
|
|
|
NM_020778.5(ALPK3):c.2378C>G (p.Pro793Arg)
|
|
|
NM_020778.5(ALPK3):c.2379C>T (p.Pro793=)
|
rs887413105
|
|
NM_020778.5(ALPK3):c.2382G>C (p.Leu794=)
|
|
|
NM_020778.5(ALPK3):c.2385A>G (p.Ser795=)
|
|
|
NM_020778.5(ALPK3):c.2393T>C (p.Leu798Pro)
|
rs1002796135
|
|
NM_020778.5(ALPK3):c.2394C>G (p.Leu798=)
|
|
|
NM_020778.5(ALPK3):c.2398C>A (p.Leu800Ile)
|
|
|
NM_020778.5(ALPK3):c.2398C>G (p.Leu800Val)
|
|
|
NM_020778.5(ALPK3):c.2400C>T (p.Leu800=)
|
|
|
NM_020778.5(ALPK3):c.2407C>T (p.Gln803Ter)
|
rs1555435405
|
|
NM_020778.5(ALPK3):c.240G>T (p.Glu80Asp)
|
|
|
NM_020778.5(ALPK3):c.2411C>T (p.Pro804Leu)
|
|
|
NM_020778.5(ALPK3):c.2414C>T (p.Pro805Leu)
|
|
|
NM_020778.5(ALPK3):c.2417A>G (p.His806Arg)
|
|
|
NM_020778.5(ALPK3):c.2424G>C (p.Gly808=)
|
|
|
NM_020778.5(ALPK3):c.2429T>A (p.Val810Glu)
|
rs2141567836
|
|
NM_020778.5(ALPK3):c.2432A>G (p.Glu811Gly)
|
rs2141567846
|
|
NM_020778.5(ALPK3):c.2437dup (p.Val813fs)
|
rs765189194
|
|
NM_020778.5(ALPK3):c.2455C>T (p.Arg819Ter)
|
|
|
NM_020778.5(ALPK3):c.2458G>C (p.Gly820Arg)
|
|
|
NM_020778.5(ALPK3):c.2460G>A (p.Gly820=)
|
|
|
NM_020778.5(ALPK3):c.2464_2465del (p.Gln822fs)
|
|
|
NM_020778.5(ALPK3):c.2465A>G (p.Gln822Arg)
|
|
|
NM_020778.5(ALPK3):c.2466G>T (p.Gln822His)
|
rs1963874697
|
|
NM_020778.5(ALPK3):c.246G>A (p.Thr82=)
|
|
|
NM_020778.5(ALPK3):c.2493G>T (p.Gln831His)
|
|
|
NM_020778.5(ALPK3):c.2497G>T (p.Asp833Tyr)
|
rs2141567926
|
|
NM_020778.5(ALPK3):c.249C>G (p.Leu83=)
|
|
|
NM_020778.5(ALPK3):c.24C>A (p.Ser8Arg)
|
rs1301150493
|
|
NM_020778.5(ALPK3):c.2504C>A (p.Pro835Gln)
|
|
|
NM_020778.5(ALPK3):c.2505G>A (p.Pro835=)
|
|
|
NM_020778.5(ALPK3):c.2509C>T (p.Gln837Ter)
|
|
|
NM_020778.5(ALPK3):c.2510A>T (p.Gln837Leu)
|
rs1057524086
|
|
NM_020778.5(ALPK3):c.2511G>A (p.Gln837=)
|
|
|
NM_020778.5(ALPK3):c.2515C>T (p.Pro839Ser)
|
|
|
NM_020778.5(ALPK3):c.2533G>C (p.Gly845Arg)
|
|
|
NM_020778.5(ALPK3):c.2534G>A (p.Gly845Glu)
|
rs948234674
|
|
NM_020778.5(ALPK3):c.2536G>A (p.Gly846Arg)
|
|
|
NM_020778.5(ALPK3):c.2536G>T (p.Gly846Ter)
|
rs202153052
|
|
NM_020778.5(ALPK3):c.2539G>A (p.Val847Met)
|
|
|
NM_020778.5(ALPK3):c.2550G>T (p.Met850Ile)
|
rs2141568018
|
|
NM_020778.5(ALPK3):c.2561G>A (p.Gly854Asp)
|
|
|
NM_020778.5(ALPK3):c.2564G>A (p.Cys855Tyr)
|
|
|
NM_020778.5(ALPK3):c.2568T>G (p.Pro856=)
|
|
|
NM_020778.5(ALPK3):c.256del (p.Arg86fs)
|
|
|
NM_020778.5(ALPK3):c.2571A>G (p.Leu857=)
|
|
|
NM_020778.5(ALPK3):c.257G>A (p.Arg86Gln)
|
|
|
NM_020778.5(ALPK3):c.2582G>A (p.Ser861Asn)
|
|
|
NM_020778.5(ALPK3):c.2593C>A (p.Pro865Thr)
|
|
|
NM_020778.5(ALPK3):c.2593C>T (p.Pro865Ser)
|
|
|
NM_020778.5(ALPK3):c.2598G>A (p.Thr866=)
|
|
|
NM_020778.5(ALPK3):c.2598G>C (p.Thr866=)
|
rs200842914
|
|
NM_020778.5(ALPK3):c.2608C>T (p.Leu870Phe)
|
|
|
NM_020778.5(ALPK3):c.2611C>T (p.Pro871Ser)
|
rs1439652574
|
|
NM_020778.5(ALPK3):c.2612del (p.Pro871fs)
|
rs2141568088
|
|
NM_020778.5(ALPK3):c.2619T>G (p.Thr873=)
|
rs1381348798
|
|
NM_020778.5(ALPK3):c.261T>G (p.Ser87=)
|
|
|
NM_020778.5(ALPK3):c.262G>T (p.Val88Leu)
|
|
|
NM_020778.5(ALPK3):c.2637A>G (p.Pro879=)
|
|
|
NM_020778.5(ALPK3):c.2643G>A (p.Ala881=)
|
|
|
NM_020778.5(ALPK3):c.2651G>A (p.Cys884Tyr)
|
|
|
NM_020778.5(ALPK3):c.2658C>T (p.Thr886=)
|
|
|
NM_020778.5(ALPK3):c.2659C>T (p.Pro887Ser)
|
|
|
NM_020778.5(ALPK3):c.2661G>C (p.Pro887=)
|
|
|
NM_020778.5(ALPK3):c.2668C>T (p.Gln890Ter)
|
|
|
NM_020778.5(ALPK3):c.2677A>C (p.Ser893Arg)
|
|
|
NM_020778.5(ALPK3):c.2678G>C (p.Ser893Thr)
|
|
|
NM_020778.5(ALPK3):c.2679C>G (p.Ser893Arg)
|
|
|
NM_020778.5(ALPK3):c.268G>A (p.Glu90Lys)
|
rs780318912
|
|
NM_020778.5(ALPK3):c.268G>C (p.Glu90Gln)
|
|
|
NM_020778.5(ALPK3):c.2694G>C (p.Leu898=)
|
|
|
NM_020778.5(ALPK3):c.2702A>G (p.Glu901Gly)
|
|
|
NM_020778.5(ALPK3):c.2707C>A (p.Gln903Lys)
|
|
|
NM_020778.5(ALPK3):c.2716A>T (p.Met906Leu)
|
rs1249860975
|
|
NM_020778.5(ALPK3):c.271G>T (p.Asp91Tyr)
|
|
|
NM_020778.5(ALPK3):c.2720G>A (p.Ser907Asn)
|
|
|
NM_020778.5(ALPK3):c.2728C>T (p.Pro910Ser)
|
|
|
NM_020778.5(ALPK3):c.2729del (p.Pro910fs)
|
rs2141568204
|
|
NM_020778.5(ALPK3):c.2737C>T (p.His913Tyr)
|
rs2141568220
|
|
NM_020778.5(ALPK3):c.2745G>T (p.Gly915=)
|
|
|
NM_020778.5(ALPK3):c.2754C>A (p.Thr918=)
|
rs1045217338
|
|
NM_020778.5(ALPK3):c.2757dup (p.Thr920fs)
|
rs2141568242
|
|
NM_020778.5(ALPK3):c.2760dup (p.Gln921fs)
|
|
|
NM_020778.5(ALPK3):c.2761C>T (p.Gln921Ter)
|
|
|
NM_020778.5(ALPK3):c.2766T>C (p.Ser922=)
|
|
|
NM_020778.5(ALPK3):c.2770_2771delinsGA (p.Pro924Glu)
|
|
|
NM_020778.5(ALPK3):c.2771C>T (p.Pro924Leu)
|
rs1346027337
|
|
NM_020778.5(ALPK3):c.277G>A (p.Asp93Asn)
|
|
|
NM_020778.5(ALPK3):c.2785G>A (p.Ala929Thr)
|
|
|
NM_020778.5(ALPK3):c.2789C>T (p.Thr930Ile)
|
|
|
NM_020778.5(ALPK3):c.2803G>C (p.Ala935Pro)
|
|
|
NM_020778.5(ALPK3):c.2803G>T (p.Ala935Ser)
|
rs1192258761
|
|
NM_020778.5(ALPK3):c.2809G>A (p.Ala937Thr)
|
|
|
NM_020778.5(ALPK3):c.280G>A (p.Val94Ile)
|
|
|
NM_020778.5(ALPK3):c.2821G>C (p.Asp941His)
|
|
|
NM_020778.5(ALPK3):c.2827G>A (p.Glu943Lys)
|
|
|
NM_020778.5(ALPK3):c.2829G>T (p.Glu943Asp)
|
|
|
NM_020778.5(ALPK3):c.2833C>A (p.Arg945=)
|
|
|
NM_020778.5(ALPK3):c.2833C>T (p.Arg945Trp)
|
|
|
NM_020778.5(ALPK3):c.2834G>A (p.Arg945Gln)
|
rs377166800
|
|
NM_020778.5(ALPK3):c.2842G>A (p.Gly948Ser)
|
rs1217503979
|
|
NM_020778.5(ALPK3):c.2842G>T (p.Gly948Cys)
|
|
|
NM_020778.5(ALPK3):c.2844T>C (p.Gly948=)
|
|
|
NM_020778.5(ALPK3):c.2845C>G (p.Pro949Ala)
|
|
|
NM_020778.5(ALPK3):c.2845C>T (p.Pro949Ser)
|
|
|
NM_020778.5(ALPK3):c.2847C>T (p.Pro949=)
|
|
|
NM_020778.5(ALPK3):c.2849G>T (p.Arg950Leu)
|
rs772259344
|
|
NM_020778.5(ALPK3):c.2860C>T (p.Pro954Ser)
|
|
|
NM_020778.5(ALPK3):c.2864G>A (p.Gly955Asp)
|
|
|
NM_020778.5(ALPK3):c.286T>C (p.Phe96Leu)
|
|
|
NM_020778.5(ALPK3):c.2872G>C (p.Asp958His)
|
|
|
NM_020778.5(ALPK3):c.2876C>T (p.Ser959Phe)
|
|
|
NM_020778.5(ALPK3):c.2885A>G (p.Asn962Ser)
|
|
|
NM_020778.5(ALPK3):c.2887T>C (p.Tyr963His)
|
|
|
NM_020778.5(ALPK3):c.2892G>A (p.Leu964=)
|
|
|
NM_020778.5(ALPK3):c.2896CTG[2] (p.Leu968del)
|
|
|
NM_020778.5(ALPK3):c.2909T>C (p.Leu970Pro)
|
|
|
NM_020778.5(ALPK3):c.2910G>A (p.Leu970=)
|
|
|
NM_020778.5(ALPK3):c.2910G>T (p.Leu970=)
|
|
|
NM_020778.5(ALPK3):c.2915G>A (p.Ser972Asn)
|
|
|
NM_020778.5(ALPK3):c.2917A>C (p.Thr973Pro)
|
|
|
NM_020778.5(ALPK3):c.2918C>G (p.Thr973Arg)
|
|
|
NM_020778.5(ALPK3):c.291C>A (p.Thr97=)
|
|
|
NM_020778.5(ALPK3):c.2927del (p.Ser976fs)
|
|
|
NM_020778.5(ALPK3):c.2929G>A (p.Gly977Arg)
|
|
|
NM_020778.5(ALPK3):c.292T>C (p.Cys98Arg)
|
rs1963503521
|
|
NM_020778.5(ALPK3):c.2937G>A (p.Gly979=)
|
|
|
NM_020778.5(ALPK3):c.2938G>T (p.Gly980Ter)
|
rs1596155634
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NM_020778.5(ALPK3):c.2939G>C (p.Gly980Ala)
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NM_020778.5(ALPK3):c.293G>C (p.Cys98Ser)
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NM_020778.5(ALPK3):c.2940A>C (p.Gly980=)
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rs1221364093
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NM_020778.5(ALPK3):c.2941G>A (p.Glu981Lys)
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NM_020778.5(ALPK3):c.2949G>A (p.Gln983=)
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NM_020778.5(ALPK3):c.2952G>C (p.Val984=)
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NM_020778.5(ALPK3):c.2954G>A (p.Gly985Glu)
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NM_020778.5(ALPK3):c.2960C>T (p.Ala987Val)
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NM_020778.5(ALPK3):c.2963C>T (p.Thr988Ile)
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rs2141568498
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NM_020778.5(ALPK3):c.297C>T (p.Ile99=)
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NM_020778.5(ALPK3):c.2986A>G (p.Thr996Ala)
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NM_020778.5(ALPK3):c.2987C>G (p.Thr996Ser)
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rs2141568517
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NM_020778.5(ALPK3):c.2999C>T (p.Thr1000Ile)
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NM_020778.5(ALPK3):c.29G>T (p.Gly10Val)
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NM_020778.5(ALPK3):c.3015del (p.Ser1007fs)
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NM_020778.5(ALPK3):c.3017T>G (p.Leu1006Arg)
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rs1963884081
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NM_020778.5(ALPK3):c.3019A>C (p.Ser1007Arg)
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NM_020778.5(ALPK3):c.3024C>G (p.Pro1008=)
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NM_020778.5(ALPK3):c.3026G>C (p.Arg1009Pro)
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rs138597569
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NM_020778.5(ALPK3):c.3030A>G (p.Thr1010=)
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NM_020778.5(ALPK3):c.3033G>A (p.Ser1011=)
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NM_020778.5(ALPK3):c.3037C>G (p.Arg1013Gly)
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NM_020778.5(ALPK3):c.3037C>T (p.Arg1013Cys)
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rs142109538
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NM_020778.5(ALPK3):c.304+12G>C
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NM_020778.5(ALPK3):c.304+2T>A
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NM_020778.5(ALPK3):c.304+7A>C
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rs1182495506
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NM_020778.5(ALPK3):c.304+8T>C
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rs375713380
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NM_020778.5(ALPK3):c.3048G>A (p.Glu1016=)
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NM_020778.5(ALPK3):c.305-12C>T
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NM_020778.5(ALPK3):c.305-13G>C
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NM_020778.5(ALPK3):c.305-16C>T
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rs1050900275
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NM_020778.5(ALPK3):c.305-18C>A
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rs1896864
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NM_020778.5(ALPK3):c.305-18C>G
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rs1896864
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NM_020778.5(ALPK3):c.305-1G>A
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NM_020778.5(ALPK3):c.305-341_305-340insAT
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rs145586317
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NM_020778.5(ALPK3):c.305-341_305-340insATTAT
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rs145586317
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NM_020778.5(ALPK3):c.305-341_305-340insATTATTAT
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rs145586317
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NM_020778.5(ALPK3):c.305-341_305-340insATTATTATTAT
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rs145586317
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NM_020778.5(ALPK3):c.305-341_305-340insATTATTATTATTAT
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rs145586317
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NM_020778.5(ALPK3):c.305-341del
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rs72522608
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NM_020778.5(ALPK3):c.305-7_305-4del
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rs1963625170
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NM_020778.5(ALPK3):c.305-9C>T
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NM_020778.5(ALPK3):c.3057G>A (p.Glu1019=)
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NM_020778.5(ALPK3):c.3058A>T (p.Asn1020Tyr)
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NM_020778.5(ALPK3):c.3058AAC[1] (p.Asn1021del)
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NM_020778.5(ALPK3):c.3060C>G (p.Asn1020Lys)
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NM_020778.5(ALPK3):c.3060C>T (p.Asn1020=)
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NM_020778.5(ALPK3):c.3062A>C (p.Asn1021Thr)
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rs2141568606
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NM_020778.5(ALPK3):c.3067C>T (p.Leu1023=)
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NM_020778.5(ALPK3):c.3080C>A (p.Ala1027Glu)
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NM_020778.5(ALPK3):c.3081A>G (p.Ala1027=)
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NM_020778.5(ALPK3):c.3084G>T (p.Gln1028His)
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NM_020778.5(ALPK3):c.3089T>C (p.Leu1030Pro)
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rs2141568627
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NM_020778.5(ALPK3):c.3099C>T (p.Ser1033=)
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NM_020778.5(ALPK3):c.30_63delinsGTCGGGTCGGGGCTGGGTCGGGGCTGGGTCGGGGGCGGGGGGCGACGGTGAGGACGGTGGG (p.Trp11_Ala19delinsSerGlyArgGlyTrpValGlyAlaGlySerGlyAlaGlyGlyAspGlyGluAsp)
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NM_020778.5(ALPK3):c.3112C>G (p.Arg1038Gly)
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NM_020778.5(ALPK3):c.3123C>T (p.Thr1041=)
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NM_020778.5(ALPK3):c.3125G>A (p.Gly1042Asp)
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NM_020778.5(ALPK3):c.3134_3659del (p.Asp1045fs)
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rs2141568675
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NM_020778.5(ALPK3):c.3136C>T (p.Arg1046Cys)
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rs34414438
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NM_020778.5(ALPK3):c.3150_3153dup (p.Arg1052fs)
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NM_020778.5(ALPK3):c.315G>A (p.Glu105=)
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NM_020778.5(ALPK3):c.3172G>A (p.Ala1058Thr)
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NM_020778.5(ALPK3):c.3175C>G (p.Arg1059Gly)
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NM_020778.5(ALPK3):c.3176G>A (p.Arg1059Gln)
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NM_020778.5(ALPK3):c.3187G>C (p.Gly1063Arg)
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NM_020778.5(ALPK3):c.3188G>A (p.Gly1063Asp)
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NM_020778.5(ALPK3):c.3193G>A (p.Gly1065Ser)
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NM_020778.5(ALPK3):c.3194G>A (p.Gly1065Asp)
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NM_020778.5(ALPK3):c.3201C>T (p.Ser1067=)
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NM_020778.5(ALPK3):c.3203C>T (p.Ser1068Phe)
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NM_020778.5(ALPK3):c.3205C>T (p.Leu1069Phe)
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NM_020778.5(ALPK3):c.3207C>T (p.Leu1069=)
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NM_020778.5(ALPK3):c.320A>G (p.Glu107Gly)
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NM_020778.5(ALPK3):c.3214C>T (p.Pro1072Ser)
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NM_020778.5(ALPK3):c.3224T>G (p.Val1075Gly)
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NM_020778.5(ALPK3):c.3231_3232del (p.Asp1077fs)
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rs2141568790
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NM_020778.5(ALPK3):c.3238del (p.Asp1080fs)
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NM_020778.5(ALPK3):c.324G>A (p.Val108=)
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NM_020778.5(ALPK3):c.3250G>A (p.Ala1084Thr)
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NM_020778.5(ALPK3):c.3254C>T (p.Ser1085Leu)
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NM_020778.5(ALPK3):c.3260G>A (p.Gly1087Glu)
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NM_020778.5(ALPK3):c.326C>A (p.Thr109Asn)
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NM_020778.5(ALPK3):c.3272G>A (p.Gly1091Asp)
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NM_020778.5(ALPK3):c.3286T>C (p.Ser1096Pro)
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NM_020778.5(ALPK3):c.3286del (p.Ser1096fs)
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NM_020778.5(ALPK3):c.3287C>G (p.Ser1096Cys)
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NM_020778.5(ALPK3):c.3289_3290delinsTT (p.Pro1097Phe)
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rs2141568853
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NM_020778.5(ALPK3):c.3292G>C (p.Glu1098Gln)
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NM_020778.5(ALPK3):c.3292G>T (p.Glu1098Ter)
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rs762559979
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NM_020778.5(ALPK3):c.3295G>A (p.Gly1099Arg)
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rs1234276224
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NM_020778.5(ALPK3):c.3297G>A (p.Gly1099=)
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rs1963888619
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NM_020778.5(ALPK3):c.3297G>T (p.Gly1099=)
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NM_020778.5(ALPK3):c.3304C>G (p.Leu1102Val)
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NM_020778.5(ALPK3):c.3306C>T (p.Leu1102=)
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rs774100440
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NM_020778.5(ALPK3):c.3307C>G (p.Leu1103Val)
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NM_020778.5(ALPK3):c.3310G>A (p.Gly1104Arg)
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rs1963888916
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NM_020778.5(ALPK3):c.3321G>A (p.Gln1107=)
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NM_020778.5(ALPK3):c.3322G>A (p.Glu1108Lys)
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rs2141568923
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NM_020778.5(ALPK3):c.3343C>A (p.Leu1115Met)
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NM_020778.5(ALPK3):c.3344T>C (p.Leu1115Pro)
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NM_020778.5(ALPK3):c.3357T>G (p.Gly1119=)
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rs1042969477
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NM_020778.5(ALPK3):c.3368C>A (p.Ala1123Asp)
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NM_020778.5(ALPK3):c.3375A>C (p.Gly1125=)
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NM_020778.5(ALPK3):c.3380G>A (p.Gly1127Glu)
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NM_020778.5(ALPK3):c.3382C>T (p.Pro1128Ser)
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NM_020778.5(ALPK3):c.3387_3413del (p.Ala1130_Ser1138del)
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NM_020778.5(ALPK3):c.3393G>C (p.Glu1131Asp)
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NM_020778.5(ALPK3):c.3395G>A (p.Ser1132Asn)
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rs374108436
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NM_020778.5(ALPK3):c.3398T>C (p.Ile1133Thr)
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NM_020778.5(ALPK3):c.3398_3399dup (p.Ala1134Ter)
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rs1963891093
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NM_020778.5(ALPK3):c.3404_3411dup (p.Ser1138fs)
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rs2141569048
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NM_020778.5(ALPK3):c.3406G>A (p.Glu1136Lys)
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NM_020778.5(ALPK3):c.3406G>C (p.Glu1136Gln)
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NM_020778.5(ALPK3):c.3410C>T (p.Pro1137Leu)
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NM_020778.5(ALPK3):c.3419A>G (p.Glu1140Gly)
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rs758605573
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NM_020778.5(ALPK3):c.3419A>T (p.Glu1140Val)
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NM_020778.5(ALPK3):c.3423G>T (p.Glu1141Asp)
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NM_020778.5(ALPK3):c.3431C>T (p.Pro1144Leu)
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NM_020778.5(ALPK3):c.3432del (p.Glu1146fs)
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NM_020778.5(ALPK3):c.3437_3438dup (p.Ala1147fs)
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rs2141569123
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NM_020778.5(ALPK3):c.3441del (p.Ala1147_Leu1148insTer)
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NM_020778.5(ALPK3):c.3449_3450inv (p.Gly1150Asp)
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NM_020778.5(ALPK3):c.3450_3451delinsCT (p.Leu1151Phe)
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rs2141569156
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NM_020778.5(ALPK3):c.3452T>A (p.Leu1151His)
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NM_020778.5(ALPK3):c.3453C>T (p.Leu1151=)
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NM_020778.5(ALPK3):c.3454C>T (p.Pro1152Ser)
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rs780056277
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NM_020778.5(ALPK3):c.3455C>A (p.Pro1152Gln)
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NM_020778.5(ALPK3):c.3458C>A (p.Ala1153Glu)
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NM_020778.5(ALPK3):c.3464C>T (p.Thr1155Ile)
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NM_020778.5(ALPK3):c.3469G>A (p.Glu1157Lys)
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NM_020778.5(ALPK3):c.3487G>A (p.Ala1163Thr)
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rs372770939
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NM_020778.5(ALPK3):c.3491G>A (p.Arg1164Gln)
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rs1291790142
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NM_020778.5(ALPK3):c.3491G>T (p.Arg1164Leu)
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NM_020778.5(ALPK3):c.34G>A (p.Gly12Ser)
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NM_020778.5(ALPK3):c.3502T>C (p.Phe1168Leu)
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NM_020778.5(ALPK3):c.3505C>T (p.Leu1169Phe)
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NM_020778.5(ALPK3):c.3506T>C (p.Leu1169Pro)
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NM_020778.5(ALPK3):c.3509C>G (p.Pro1170Arg)
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rs1273597463
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NM_020778.5(ALPK3):c.350_352del (p.Leu117_Asp118delinsHis)
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NM_020778.5(ALPK3):c.3512A>C (p.Lys1171Thr)
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NM_020778.5(ALPK3):c.3521C>G (p.Ala1174Gly)
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NM_020778.5(ALPK3):c.3524C>G (p.Ala1175Gly)
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NM_020778.5(ALPK3):c.3531C>G (p.Asp1177Glu)
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rs115438635
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NM_020778.5(ALPK3):c.3535G>A (p.Glu1179Lys)
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rs776845827
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NM_020778.5(ALPK3):c.3535G>C (p.Glu1179Gln)
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NM_020778.5(ALPK3):c.3535del (p.Glu1179fs)
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rs1567094168
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NM_020778.5(ALPK3):c.353A>G (p.Asp118Gly)
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rs1596149322
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NM_020778.5(ALPK3):c.3541A>G (p.Thr1181Ala)
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NM_020778.5(ALPK3):c.3544A>G (p.Thr1182Ala)
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NM_020778.5(ALPK3):c.3546A>G (p.Thr1182=)
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NM_020778.5(ALPK3):c.3548C>T (p.Pro1183Leu)
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NM_020778.5(ALPK3):c.3555_3560dup (p.Arg1186_Glu1187dup)
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rs756614935
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NM_020778.5(ALPK3):c.3557G>A (p.Arg1186Lys)
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NM_020778.5(ALPK3):c.3562A>G (p.Ser1188Gly)
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NM_020778.5(ALPK3):c.3568A>G (p.Thr1190Ala)
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NM_020778.5(ALPK3):c.3568A>T (p.Thr1190Ser)
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NM_020778.5(ALPK3):c.3569C>T (p.Thr1190Met)
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NM_020778.5(ALPK3):c.3575C>T (p.Ser1192Phe)
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NM_020778.5(ALPK3):c.3577C>T (p.Pro1193Ser)
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NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs)
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rs777315336
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NM_020778.5(ALPK3):c.3581G>A (p.Arg1194Gln)
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rs543260061
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NM_020778.5(ALPK3):c.3584G>A (p.Gly1195Glu)
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NM_020778.5(ALPK3):c.3585G>A (p.Gly1195=)
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NM_020778.5(ALPK3):c.3588del (p.Arg1197fs)
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NM_020778.5(ALPK3):c.3595A>T (p.Ser1199Cys)
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NM_020778.5(ALPK3):c.3597C>T (p.Ser1199=)
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NM_020778.5(ALPK3):c.35G>C (p.Gly12Ala)
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NM_020778.5(ALPK3):c.3601G>A (p.Val1201Met)
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NM_020778.5(ALPK3):c.3602T>G (p.Val1201Gly)
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NM_020778.5(ALPK3):c.3604C>T (p.Pro1202Ser)
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NM_020778.5(ALPK3):c.3605C>T (p.Pro1202Leu)
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NM_020778.5(ALPK3):c.3606_3613del (p.Gly1203fs)
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NM_020778.5(ALPK3):c.3610_3618del (p.Ser1204_Gly1206del)
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rs748783854
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NM_020778.5(ALPK3):c.3613C>T (p.Pro1205Ser)
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NM_020778.5(ALPK3):c.3619A>C (p.Thr1207Pro)
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NM_020778.5(ALPK3):c.361T>C (p.Cys121Arg)
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NM_020778.5(ALPK3):c.3621T>G (p.Thr1207=)
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NM_020778.5(ALPK3):c.3629_3654del (p.Arg1210fs)
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NM_020778.5(ALPK3):c.3638G>A (p.Arg1213His)
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NM_020778.5(ALPK3):c.3639C>T (p.Arg1213=)
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NM_020778.5(ALPK3):c.3640_3643dup (p.Pro1215fs)
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rs756970868
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NM_020778.5(ALPK3):c.3644C>T (p.Pro1215Leu)
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NM_020778.5(ALPK3):c.3649C>G (p.Gln1217Glu)
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NM_020778.5(ALPK3):c.3652_3656dup (p.Lys1220fs)
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NM_020778.5(ALPK3):c.365G>A (p.Gly122Asp)
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NM_020778.5(ALPK3):c.3660G>A (p.Lys1220=)
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NM_020778.5(ALPK3):c.3663G>A (p.Ala1221=)
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NM_020778.5(ALPK3):c.3674A>C (p.Glu1225Ala)
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NM_020778.5(ALPK3):c.3678G>T (p.Val1226=)
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NM_020778.5(ALPK3):c.3682C>G (p.Arg1228Gly)
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rs537104966
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NM_020778.5(ALPK3):c.3682C>T (p.Arg1228Trp)
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rs537104966
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NM_020778.5(ALPK3):c.3688GAG[2] (p.Glu1232del)
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NM_020778.5(ALPK3):c.36C>A (p.Gly12=)
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NM_020778.5(ALPK3):c.36C>G (p.Gly12=)
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NM_020778.5(ALPK3):c.36C>T (p.Gly12=)
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NM_020778.5(ALPK3):c.3700G>A (p.Ala1234Thr)
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NM_020778.5(ALPK3):c.3710A>G (p.Asp1237Gly)
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NM_020778.5(ALPK3):c.3714G>A (p.Leu1238=)
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NM_020778.5(ALPK3):c.3716del (p.Gly1239fs)
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NM_020778.5(ALPK3):c.371C>G (p.Pro124Arg)
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NM_020778.5(ALPK3):c.3726del (p.Lys1243fs)
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rs745688425
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NM_020778.5(ALPK3):c.3728A>G (p.Lys1243Arg)
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NM_020778.5(ALPK3):c.3734_3735delinsTT (p.Gly1245Val)
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NM_020778.5(ALPK3):c.3735C>G (p.Gly1245=)
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NM_020778.5(ALPK3):c.3745_3746delinsCT (p.Thr1249Leu)
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rs2141569584
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NM_020778.5(ALPK3):c.3754G>T (p.Ala1252Ser)
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rs2141569602
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NM_020778.5(ALPK3):c.3760G>A (p.Asp1254Asn)
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rs1166623972
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NM_020778.5(ALPK3):c.3780A>C (p.Thr1260=)
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|
|
NM_020778.5(ALPK3):c.3780A>G (p.Thr1260=)
|
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|
NM_020778.5(ALPK3):c.378T>C (p.Tyr126=)
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|
NM_020778.5(ALPK3):c.3794G>A (p.Arg1265Lys)
|
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|
NM_020778.5(ALPK3):c.379G>A (p.Glu127Lys)
|
|
|
NM_020778.5(ALPK3):c.37G>A (p.Ala13Thr)
|
rs936606117
|
|
NM_020778.5(ALPK3):c.3802A>G (p.Lys1268Glu)
|
rs1963899685
|
|
NM_020778.5(ALPK3):c.3808C>T (p.Leu1270=)
|
rs2141569644
|
|
NM_020778.5(ALPK3):c.3817+1G>A
|
|
|
NM_020778.5(ALPK3):c.3817+7A>G
|
|
|
NM_020778.5(ALPK3):c.3817G>A (p.Ala1273Thr)
|
|
|
NM_020778.5(ALPK3):c.3818-10del
|
|
|
NM_020778.5(ALPK3):c.3818-12C>G
|
rs1963908337
|
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NM_020778.5(ALPK3):c.3818-14G>A
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NM_020778.5(ALPK3):c.3818-16T>G
|
rs755306115
|
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NM_020778.5(ALPK3):c.3818-17C>A
|
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|
NM_020778.5(ALPK3):c.3818-277C>T
|
rs149202140
|
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NM_020778.5(ALPK3):c.3818C>G (p.Ala1273Gly)
|
rs2141570151
|
|
NM_020778.5(ALPK3):c.3820C>T (p.Pro1274Ser)
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|
NM_020778.5(ALPK3):c.3826G>A (p.Val1276Met)
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|
NM_020778.5(ALPK3):c.382A>T (p.Ile128Phe)
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|
NM_020778.5(ALPK3):c.3832C>A (p.Arg1278=)
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|
NM_020778.5(ALPK3):c.3833G>A (p.Arg1278Gln)
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NM_020778.5(ALPK3):c.3833G>C (p.Arg1278Pro)
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NM_020778.5(ALPK3):c.3834G>C (p.Arg1278=)
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NM_020778.5(ALPK3):c.3835A>C (p.Lys1279Gln)
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NM_020778.5(ALPK3):c.3868G>A (p.Gly1290Ser)
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NM_020778.5(ALPK3):c.386_389del (p.Thr129fs)
|
rs1596149339
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NM_020778.5(ALPK3):c.3882G>A (p.Leu1294=)
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|
NM_020778.5(ALPK3):c.3884G>A (p.Trp1295Ter)
|
rs2141570234
|
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NM_020778.5(ALPK3):c.3885G>A (p.Trp1295Ter)
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|
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NM_020778.5(ALPK3):c.3886T>G (p.Cys1296Gly)
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NM_020778.5(ALPK3):c.3890dup (p.Phe1298fs)
|
rs2141570246
|
|
NM_020778.5(ALPK3):c.3900C>T (p.Asn1300=)
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|
NM_020778.5(ALPK3):c.3902T>C (p.Ile1301Thr)
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NM_020778.5(ALPK3):c.3903T>A (p.Ile1301=)
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|
NM_020778.5(ALPK3):c.3906T>C (p.Leu1302=)
|
rs2141570257
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NM_020778.5(ALPK3):c.3912C>T (p.Asp1304=)
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|
|
NM_020778.5(ALPK3):c.3919T>G (p.Leu1307Val)
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|
|
NM_020778.5(ALPK3):c.3923C>G (p.Thr1308Arg)
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|
|
NM_020778.5(ALPK3):c.3924A>C (p.Thr1308=)
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|
|
NM_020778.5(ALPK3):c.3924A>G (p.Thr1308=)
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|
NM_020778.5(ALPK3):c.3924A>T (p.Thr1308=)
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|
|
NM_020778.5(ALPK3):c.3925T>G (p.Trp1309Gly)
|
|
|
NM_020778.5(ALPK3):c.3936_3937del (p.Asp1312fs)
|
rs2141570299
|
|
NM_020778.5(ALPK3):c.3946G>A (p.Val1316Met)
|
|
|
NM_020778.5(ALPK3):c.3951C>T (p.Gly1317=)
|
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|
NM_020778.5(ALPK3):c.3963G>A (p.Arg1321=)
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|
NM_020778.5(ALPK3):c.3965+10C>T
|
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|
NM_020778.5(ALPK3):c.3965+15C>T
|
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|
NM_020778.5(ALPK3):c.3965+17_3965+25del
|
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|
NM_020778.5(ALPK3):c.3965+2T>C
|
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|
NM_020778.5(ALPK3):c.3966-18A>G
|
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|
NM_020778.5(ALPK3):c.3966-20G>A
|
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|
NM_020778.5(ALPK3):c.3966-2A>T
|
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|
NM_020778.5(ALPK3):c.3974A>T (p.Asp1325Val)
|
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|
NM_020778.5(ALPK3):c.3980G>T (p.Gly1327Val)
|
|
|
NM_020778.5(ALPK3):c.3984G>A (p.Pro1328=)
|
rs747599854
|
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NM_020778.5(ALPK3):c.3984G>C (p.Pro1328=)
|
|
|
NM_020778.5(ALPK3):c.3984G>T (p.Pro1328=)
|
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|
NM_020778.5(ALPK3):c.3987G>C (p.Ala1329=)
|
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|
NM_020778.5(ALPK3):c.3997A>G (p.Ile1333Val)
|
|
|
NM_020778.5(ALPK3):c.4000G>A (p.Val1334Met)
|
|
|
NM_020778.5(ALPK3):c.4002G>A (p.Val1334=)
|
rs2141570675
|
|
NM_020778.5(ALPK3):c.4006G>A (p.Ala1336Thr)
|
|
|
NM_020778.5(ALPK3):c.400C>G (p.Arg134Gly)
|
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|
NM_020778.5(ALPK3):c.4012C>T (p.Pro1338Ser)
|
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|
NM_020778.5(ALPK3):c.4014del (p.Pro1338_Val1339insTer)
|
rs2141570684
|
|
NM_020778.5(ALPK3):c.4019A>G (p.Asp1340Gly)
|
|
|
NM_020778.5(ALPK3):c.4021T>C (p.Cys1341Arg)
|
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|
NM_020778.5(ALPK3):c.4027G>C (p.Val1343Leu)
|
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|
NM_020778.5(ALPK3):c.4037G>A (p.Cys1346Tyr)
|
|
|
NM_020778.5(ALPK3):c.4038C>T (p.Cys1346=)
|
|
|
NM_020778.5(ALPK3):c.4044C>T (p.Ile1348=)
|
|
|
NM_020778.5(ALPK3):c.4049A>G (p.Asn1350Ser)
|
|
|
NM_020778.5(ALPK3):c.4051G>A (p.Glu1351Lys)
|
|
|
NM_020778.5(ALPK3):c.4052A>T (p.Glu1351Val)
|
|
|
NM_020778.5(ALPK3):c.4057G>C (p.Gly1353Arg)
|
|
|
NM_020778.5(ALPK3):c.4058G>A (p.Gly1353Asp)
|
rs1963921424
|
|
NM_020778.5(ALPK3):c.4061C>G (p.Ser1354Trp)
|
|
|
NM_020778.5(ALPK3):c.4062G>A (p.Ser1354=)
|
|
|
NM_020778.5(ALPK3):c.4066T>C (p.Ser1356Pro)
|
|
|
NM_020778.5(ALPK3):c.4068C>T (p.Ser1356=)
|
|
|
NM_020778.5(ALPK3):c.406A>G (p.Thr136Ala)
|
|
|
NM_020778.5(ALPK3):c.4070C>G (p.Thr1357Ser)
|
rs1064796135
|
|
NM_020778.5(ALPK3):c.4071C>A (p.Thr1357=)
|
|
|
NM_020778.5(ALPK3):c.4072G>A (p.Asp1358Asn)
|
|
|
NM_020778.5(ALPK3):c.4072G>T (p.Asp1358Tyr)
|
rs780843840
|
|
NM_020778.5(ALPK3):c.4085G>A (p.Ser1362Asn)
|
|
|
NM_020778.5(ALPK3):c.4087C>G (p.Pro1363Ala)
|
|
|
NM_020778.5(ALPK3):c.4092G>T (p.Glu1364Asp)
|
rs778715401
|
|
NM_020778.5(ALPK3):c.4093+11C>T
|
rs1963922582
|
|
NM_020778.5(ALPK3):c.4093+16G>A
|
|
|
NM_020778.5(ALPK3):c.4093+17G>T
|
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|
NM_020778.5(ALPK3):c.4093+1G>A
|
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|
NM_020778.5(ALPK3):c.4093+2T>C
|
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|
NM_020778.5(ALPK3):c.4093+3G>A
|
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NM_020778.5(ALPK3):c.4093+4A>C
|
|
|
NM_020778.5(ALPK3):c.4093+5G>C
|
|
|
NM_020778.5(ALPK3):c.4093+7G>A
|
|
|
NM_020778.5(ALPK3):c.4093+7G>T
|
|
|
NM_020778.5(ALPK3):c.4093+9G>A
|
|
|
NM_020778.5(ALPK3):c.4094-19C>A
|
|
|
NM_020778.5(ALPK3):c.4102G>T (p.Gly1368Ter)
|
rs2141570935
|
|
NM_020778.5(ALPK3):c.410T>G (p.Leu137Arg)
|
|
|
NM_020778.5(ALPK3):c.4121A>T (p.Glu1374Val)
|
|
|
NM_020778.5(ALPK3):c.4126G>A (p.Glu1376Lys)
|
|
|
NM_020778.5(ALPK3):c.4129+12C>T
|
|
|
NM_020778.5(ALPK3):c.4129+14dup
|
rs766725481
|
|
NM_020778.5(ALPK3):c.4129+18G>T
|
|
|
NM_020778.5(ALPK3):c.4129+20A>G
|
|
|
NM_020778.5(ALPK3):c.4129+2T>C
|
rs2141570949
|
|
NM_020778.5(ALPK3):c.4129+4T>C
|
|
|
NM_020778.5(ALPK3):c.4129+5G>T
|
|
|
NM_020778.5(ALPK3):c.4129+6G>A
|
rs548491267
|
|
NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter)
|
rs200889953
|
|
NM_020778.5(ALPK3):c.4130-13T>A
|
rs2141572504
|
|
NM_020778.5(ALPK3):c.4130-15C>T
|
|
|
NM_020778.5(ALPK3):c.4130T>C (p.Val1377Ala)
|
|
|
NM_020778.5(ALPK3):c.4138G>A (p.Glu1380Lys)
|
|
|
NM_020778.5(ALPK3):c.4146G>A (p.Glu1382=)
|
|
|
NM_020778.5(ALPK3):c.4154del (p.Pro1385fs)
|
rs568699617
|
|
NM_020778.5(ALPK3):c.4159G>A (p.Val1387Met)
|
|
|
NM_020778.5(ALPK3):c.4167T>G (p.Ala1389=)
|
|
|
NM_020778.5(ALPK3):c.4169A>C (p.Lys1390Thr)
|
|
|
NM_020778.5(ALPK3):c.4183T>A (p.Ser1395Thr)
|
|
|
NM_020778.5(ALPK3):c.4188C>A (p.Gly1396=)
|
rs550244353
|
|
NM_020778.5(ALPK3):c.4192T>G (p.Trp1398Gly)
|
|
|
NM_020778.5(ALPK3):c.4193G>A (p.Trp1398Ter)
|
|
|
NM_020778.5(ALPK3):c.4193G>C (p.Trp1398Ser)
|
|
|
NM_020778.5(ALPK3):c.4194G>C (p.Trp1398Cys)
|
|
|
NM_020778.5(ALPK3):c.4194G>T (p.Trp1398Cys)
|
rs780428798
|
|
NM_020778.5(ALPK3):c.4204C>G (p.Leu1402Val)
|
rs1357707595
|
|
NM_020778.5(ALPK3):c.4214G>A (p.Arg1405Gln)
|
|
|
NM_020778.5(ALPK3):c.4217T>C (p.Leu1406Pro)
|
rs2141572615
|
|
NM_020778.5(ALPK3):c.422+15C>G
|
rs1596149396
|
|
NM_020778.5(ALPK3):c.422+15C>T
|
|
|
NM_020778.5(ALPK3):c.422+18G>A
|
|
|
NM_020778.5(ALPK3):c.422+1G>A
|
|
|
NM_020778.5(ALPK3):c.422+5G>C
|
rs2141555726
|
|
NM_020778.5(ALPK3):c.422+8A>G
|
|
|
NM_020778.5(ALPK3):c.4223G>A (p.Ser1408Asn)
|
rs199741089
|
|
NM_020778.5(ALPK3):c.422G>A (p.Arg141Lys)
|
rs772815322
|
|
NM_020778.5(ALPK3):c.423-15C>T
|
rs747645826
|
|
NM_020778.5(ALPK3):c.423-19del
|
rs537375112
|
|
NM_020778.5(ALPK3):c.423-2A>G
|
|
|
NM_020778.5(ALPK3):c.423-6C>A
|
|
|
NM_020778.5(ALPK3):c.423-8A>G
|
|
|
NM_020778.5(ALPK3):c.4230G>A (p.Glu1410=)
|
|
|
NM_020778.5(ALPK3):c.4230G>T (p.Glu1410Asp)
|
|
|
NM_020778.5(ALPK3):c.4235G>A (p.Arg1412Gln)
|
|
|
NM_020778.5(ALPK3):c.4235G>C (p.Arg1412Pro)
|
|
|
NM_020778.5(ALPK3):c.4235G>T (p.Arg1412Leu)
|
rs769568552
|
|
NM_020778.5(ALPK3):c.4237G>C (p.Gly1413Arg)
|
|
|
NM_020778.5(ALPK3):c.423del
|
rs1555434555
|
|
NM_020778.5(ALPK3):c.4241G>T (p.Gly1414Val)
|
|
|
NM_020778.5(ALPK3):c.4241del (p.Gly1414fs)
|
|
|
NM_020778.5(ALPK3):c.4245A>T (p.Gly1415=)
|
|
|
NM_020778.5(ALPK3):c.4247A>G (p.Tyr1416Cys)
|
|
|
NM_020778.5(ALPK3):c.424T>C (p.Cys142Arg)
|
rs2141556124
|
|
NM_020778.5(ALPK3):c.4252T>C (p.Cys1418Arg)
|
|
|
NM_020778.5(ALPK3):c.4253G>A (p.Cys1418Tyr)
|
|
|
NM_020778.5(ALPK3):c.425G>T (p.Cys142Phe)
|
rs2141556129
|
|
NM_020778.5(ALPK3):c.4261C>T (p.Arg1421Trp)
|
|
|
NM_020778.5(ALPK3):c.4262G>A (p.Arg1421Gln)
|
|
|
NM_020778.5(ALPK3):c.4262G>T (p.Arg1421Leu)
|
|
|
NM_020778.5(ALPK3):c.4267G>C (p.Ala1423Pro)
|
rs750010018
|
|
NM_020778.5(ALPK3):c.4268C>T (p.Ala1423Val)
|
|
|
NM_020778.5(ALPK3):c.4271C>T (p.Ser1424Phe)
|
|
|
NM_020778.5(ALPK3):c.427_430del (p.Arg143fs)
|
|
|
NM_020778.5(ALPK3):c.4281G>A (p.Lys1427=)
|
rs2141572697
|
|
NM_020778.5(ALPK3):c.4285A>T (p.Ile1429Phe)
|
|
|
NM_020778.5(ALPK3):c.428G>C (p.Arg143Pro)
|
|
|
NM_020778.5(ALPK3):c.4290C>G (p.Tyr1430Ter)
|
|
|
NM_020778.5(ALPK3):c.4291G>A (p.Gly1431Arg)
|
rs750258262
|
|
NM_020778.5(ALPK3):c.4293G>A (p.Gly1431=)
|
|
|
NM_020778.5(ALPK3):c.4293G>T (p.Gly1431=)
|
rs748265415
|
|
NM_020778.5(ALPK3):c.4313C>G (p.Ser1438Trp)
|
|
|
NM_020778.5(ALPK3):c.4313C>T (p.Ser1438Leu)
|
|
|
NM_020778.5(ALPK3):c.431A>G (p.Glu144Gly)
|
|
|
NM_020778.5(ALPK3):c.4322C>A (p.Thr1441Lys)
|
rs141398841
|
|
NM_020778.5(ALPK3):c.4322C>T (p.Thr1441Met)
|
rs141398841
|
|
NM_020778.5(ALPK3):c.4323G>A (p.Thr1441=)
|
|
|
NM_020778.5(ALPK3):c.4323G>T (p.Thr1441=)
|
rs372396708
|
|
NM_020778.5(ALPK3):c.4328T>C (p.Ile1443Thr)
|
|
|
NM_020778.5(ALPK3):c.4332C>T (p.Ile1444=)
|
rs2141572770
|
|
NM_020778.5(ALPK3):c.4336G>C (p.Val1446Leu)
|
|
|
NM_020778.5(ALPK3):c.4336G>T (p.Val1446Leu)
|
rs1963963607
|
|
NM_020778.5(ALPK3):c.4338G>T (p.Val1446=)
|
rs765857979
|
|
NM_020778.5(ALPK3):c.4343G>A (p.Ser1448Asn)
|
|
|
NM_020778.5(ALPK3):c.4344C>G (p.Ser1448Arg)
|
|
|
NM_020778.5(ALPK3):c.4347G>A (p.Leu1449=)
|
rs1567095400
|
|
NM_020778.5(ALPK3):c.434A>T (p.Glu145Val)
|
rs2141556144
|
|
NM_020778.5(ALPK3):c.4353_4354del (p.Phe1452fs)
|
|
|
NM_020778.5(ALPK3):c.4366A>C (p.Ser1456Arg)
|
|
|
NM_020778.5(ALPK3):c.4379T>C (p.Leu1460Pro)
|
|
|
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs)
|
rs1450218521
|
|
NM_020778.5(ALPK3):c.4395C>T (p.Tyr1465=)
|
|
|
NM_020778.5(ALPK3):c.4396G>A (p.Asp1466Asn)
|
|
|
NM_020778.5(ALPK3):c.4399G>A (p.Val1467Ile)
|
|
|
NM_020778.5(ALPK3):c.439G>T (p.Ala147Ser)
|
|
|
NM_020778.5(ALPK3):c.4404C>T (p.Thr1468=)
|
|
|
NM_020778.5(ALPK3):c.4405A>G (p.Ile1469Val)
|
|
|
NM_020778.5(ALPK3):c.4406T>C (p.Ile1469Thr)
|
|
|
NM_020778.5(ALPK3):c.4410+11C>G
|
|
|
NM_020778.5(ALPK3):c.4410+1G>A
|
rs1214281478
|
|
NM_020778.5(ALPK3):c.4410+2T>A
|
rs2141572840
|
|
NM_020778.5(ALPK3):c.4410+6A>G
|
|
|
NM_020778.5(ALPK3):c.4410G>A (p.Gln1470=)
|
|
|
NM_020778.5(ALPK3):c.4411-14T>G
|
|
|
NM_020778.5(ALPK3):c.4411-9C>T
|
|
|
NM_020778.5(ALPK3):c.4411G>C (p.Gly1471Arg)
|
|
|
NM_020778.5(ALPK3):c.4415G>C (p.Cys1472Ser)
|
|
|
NM_020778.5(ALPK3):c.441C>T (p.Ala147=)
|
|
|
NM_020778.5(ALPK3):c.4422C>G (p.Ile1474Met)
|
|
|
NM_020778.5(ALPK3):c.4428C>T (p.Asn1476=)
|
|
|
NM_020778.5(ALPK3):c.4430T>C (p.Met1477Thr)
|
|
|
NM_020778.5(ALPK3):c.4455C>G (p.Phe1485Leu)
|
|
|
NM_020778.5(ALPK3):c.4455C>T (p.Phe1485=)
|
rs549536913
|
|
NM_020778.5(ALPK3):c.4456G>T (p.Ala1486Ser)
|
rs751953827
|
|
NM_020778.5(ALPK3):c.4461del (p.Glu1488fs)
|
|
|
NM_020778.5(ALPK3):c.4469G>C (p.Arg1490Pro)
|
|
|
NM_020778.5(ALPK3):c.446T>C (p.Ile149Thr)
|
|
|
NM_020778.5(ALPK3):c.4470G>A (p.Arg1490=)
|
rs756294948
|
|
NM_020778.5(ALPK3):c.4473C>T (p.Ala1491=)
|
rs780207576
|
|
NM_020778.5(ALPK3):c.4476G>A (p.Ala1492=)
|
|
|
NM_020778.5(ALPK3):c.448T>C (p.Tyr150His)
|
|
|
NM_020778.5(ALPK3):c.4493dup (p.Pro1499fs)
|
rs2141573395
|
|
NM_020778.5(ALPK3):c.4496C>T (p.Pro1499Leu)
|
|
|
NM_020778.5(ALPK3):c.4497T>A (p.Pro1499=)
|
|
|
NM_020778.5(ALPK3):c.4498G>C (p.Glu1500Gln)
|
|
|
NM_020778.5(ALPK3):c.4499+12G>T
|
|
|
NM_020778.5(ALPK3):c.4499+13C>G
|
|
|
NM_020778.5(ALPK3):c.4499+13C>T
|
|
|
NM_020778.5(ALPK3):c.4499+14G>A
|
|
|
NM_020778.5(ALPK3):c.4499+17G>C
|
|
|
NM_020778.5(ALPK3):c.4499+1G>A
|
|
|
NM_020778.5(ALPK3):c.4499+20G>A
|
rs1596158144
|
|
NM_020778.5(ALPK3):c.4499+5G>C
|
rs1057523687
|
|
NM_020778.5(ALPK3):c.4499+9G>A
|
|
|
NM_020778.5(ALPK3):c.4499+9G>T
|
|
|
NM_020778.5(ALPK3):c.4500-12A>G
|
|
|
NM_020778.5(ALPK3):c.4500-14G>A
|
|
|
NM_020778.5(ALPK3):c.4500-16del
|
rs548462883
|
|
NM_020778.5(ALPK3):c.4500-19A>G
|
rs2141573951
|
|
NM_020778.5(ALPK3):c.4500-1G>C
|
|
|
NM_020778.5(ALPK3):c.4505T>C (p.Ile1502Thr)
|
|
|
NM_020778.5(ALPK3):c.4509A>T (p.Pro1503=)
|
|
|
NM_020778.5(ALPK3):c.4515T>G (p.Tyr1505Ter)
|
|
|
NM_020778.5(ALPK3):c.4520T>A (p.Ile1507Asn)
|
|
|
NM_020778.5(ALPK3):c.4523A>G (p.Tyr1508Cys)
|
rs2141573980
|
|
NM_020778.5(ALPK3):c.4525C>T (p.Arg1509Trp)
|
|
|
NM_020778.5(ALPK3):c.4526G>A (p.Arg1509Gln)
|
|
|
NM_020778.5(ALPK3):c.4526G>C (p.Arg1509Pro)
|
|
|
NM_020778.5(ALPK3):c.4527G>A (p.Arg1509=)
|
rs1662156183
|
|
NM_020778.5(ALPK3):c.4530T>C (p.Pro1510=)
|
|
|
NM_020778.5(ALPK3):c.4535A>G (p.Asn1512Ser)
|
rs2141573998
|
|
NM_020778.5(ALPK3):c.4537A>T (p.Asn1513Tyr)
|
rs2141574002
|
|
NM_020778.5(ALPK3):c.453G>A (p.Gln151=)
|
|
|
NM_020778.5(ALPK3):c.4548T>C (p.Tyr1516=)
|
rs2141574011
|
|
NM_020778.5(ALPK3):c.4550C>T (p.Ala1517Val)
|
|
|
NM_020778.5(ALPK3):c.4552A>T (p.Thr1518Ser)
|
|
|
NM_020778.5(ALPK3):c.4554C>T (p.Thr1518=)
|
|
|
NM_020778.5(ALPK3):c.4560G>A (p.Glu1520=)
|
|
|
NM_020778.5(ALPK3):c.4564_4565insT (p.Asp1522fs)
|
rs2141574028
|
|
NM_020778.5(ALPK3):c.4570G>T (p.Gly1524Cys)
|
|
|
NM_020778.5(ALPK3):c.4577C>A (p.Pro1526His)
|
|
|
NM_020778.5(ALPK3):c.4577C>T (p.Pro1526Leu)
|
|
|
NM_020778.5(ALPK3):c.4578C>A (p.Pro1526=)
|
|
|
NM_020778.5(ALPK3):c.4581G>C (p.Leu1527=)
|
|
|
NM_020778.5(ALPK3):c.4586C>T (p.Ser1529Phe)
|
|
|
NM_020778.5(ALPK3):c.4595C>T (p.Ser1532Phe)
|
rs747505947
|
|
NM_020778.5(ALPK3):c.4597C>T (p.Arg1533Trp)
|
|
|
NM_020778.5(ALPK3):c.4598G>A (p.Arg1533Gln)
|
|
|
NM_020778.5(ALPK3):c.4598G>T (p.Arg1533Leu)
|
rs776664645
|
|
NM_020778.5(ALPK3):c.4599G>A (p.Arg1533=)
|
|
|
NM_020778.5(ALPK3):c.4601A>G (p.Glu1534Gly)
|
|
|
NM_020778.5(ALPK3):c.4604G>T (p.Trp1535Leu)
|
|
|
NM_020778.5(ALPK3):c.4610G>A (p.Cys1537Tyr)
|
|
|
NM_020778.5(ALPK3):c.4611T>C (p.Cys1537=)
|
|
|
NM_020778.5(ALPK3):c.4620T>C (p.Ala1540=)
|
|
|
NM_020778.5(ALPK3):c.4623G>A (p.Pro1541=)
|
|
|
NM_020778.5(ALPK3):c.4626A>G (p.Thr1542=)
|
rs2141574121
|
|
NM_020778.5(ALPK3):c.4630T>C (p.Ser1544Pro)
|
|
|
NM_020778.5(ALPK3):c.463C>A (p.Gln155Lys)
|
|
|
NM_020778.5(ALPK3):c.463C>T (p.Gln155Ter)
|
|
|
NM_020778.5(ALPK3):c.4648A>G (p.Met1550Val)
|
|
|
NM_020778.5(ALPK3):c.4655A>C (p.Lys1552Thr)
|
rs1237773925
|
|
NM_020778.5(ALPK3):c.4657T>G (p.Cys1553Gly)
|
|
|
NM_020778.5(ALPK3):c.4662G>A (p.Gln1554=)
|
|
|
NM_020778.5(ALPK3):c.4664C>A (p.Thr1555Asn)
|
|
|
NM_020778.5(ALPK3):c.4670A>G (p.Gln1557Arg)
|
rs1225132252
|
|
NM_020778.5(ALPK3):c.4674C>T (p.His1558=)
|
|
|
NM_020778.5(ALPK3):c.4682A>G (p.Tyr1561Cys)
|
|
|
NM_020778.5(ALPK3):c.4687T>A (p.Trp1563Arg)
|
|
|
NM_020778.5(ALPK3):c.4687T>C (p.Trp1563Arg)
|
|
|
NM_020778.5(ALPK3):c.4701C>T (p.Ser1567=)
|
|
|
NM_020778.5(ALPK3):c.4722A>G (p.Ala1574=)
|
rs2141574193
|
|
NM_020778.5(ALPK3):c.4723+14A>G
|
rs1963984739
|
|
NM_020778.5(ALPK3):c.4723+16G>A
|
rs1299509017
|
|
NM_020778.5(ALPK3):c.4723+17G>A
|
|
|
NM_020778.5(ALPK3):c.4723+19G>A
|
|
|
NM_020778.5(ALPK3):c.4723+4C>T
|
rs560395563
|
|
NM_020778.5(ALPK3):c.4723+8G>A
|
|
|
NM_020778.5(ALPK3):c.4724-13T>C
|
|
|
NM_020778.5(ALPK3):c.4724-16C>A
|
|
|
NM_020778.5(ALPK3):c.4724-17A>G
|
|
|
NM_020778.5(ALPK3):c.4724-19C>G
|
|
|
NM_020778.5(ALPK3):c.4724-1G>A
|
rs1403144024
|
|
NM_020778.5(ALPK3):c.4724-203_4724-201del
|
rs148614333
|
|
NM_020778.5(ALPK3):c.4724-2A>G
|
rs2141575644
|
|
NM_020778.5(ALPK3):c.4729G>T (p.Asp1577Tyr)
|
|
|
NM_020778.5(ALPK3):c.4731C>A (p.Asp1577Glu)
|
|
|
NM_020778.5(ALPK3):c.4738A>C (p.Met1580Leu)
|
rs2141575659
|
|
NM_020778.5(ALPK3):c.4744G>A (p.Asp1582Asn)
|
|
|
NM_020778.5(ALPK3):c.4753A>T (p.Ile1585Phe)
|
rs2141575665
|
|
NM_020778.5(ALPK3):c.475G>A (p.Gly159Ser)
|
|
|
NM_020778.5(ALPK3):c.4772+1G>T
|
|
|
NM_020778.5(ALPK3):c.4772+20A>C
|
|
|
NM_020778.5(ALPK3):c.4772G>C (p.Gly1591Ala)
|
|
|
NM_020778.5(ALPK3):c.4773-11del
|
|
|
NM_020778.5(ALPK3):c.4773-13T>A
|
|
|
NM_020778.5(ALPK3):c.4773-16T>G
|
|
|
NM_020778.5(ALPK3):c.4773-4G>A
|
|
|
NM_020778.5(ALPK3):c.4776C>G (p.Tyr1592Ter)
|
|
|
NM_020778.5(ALPK3):c.4787_4796del (p.Lys1596fs)
|
|
|
NM_020778.5(ALPK3):c.478A>G (p.Ile160Val)
|
|
|
NM_020778.5(ALPK3):c.4792A>G (p.Ser1598Gly)
|
|
|
NM_020778.5(ALPK3):c.4794del (p.Cys1599fs)
|
rs2141576118
|
|
NM_020778.5(ALPK3):c.4797C>T (p.Cys1599=)
|
|
|
NM_020778.5(ALPK3):c.4804G>C (p.Ala1602Pro)
|
|
|
NM_020778.5(ALPK3):c.4816C>G (p.Arg1606Gly)
|
rs769796609
|
|
NM_020778.5(ALPK3):c.4816C>T (p.Arg1606Trp)
|
rs769796609
|
|
NM_020778.5(ALPK3):c.4817G>C (p.Arg1606Pro)
|
|
|
NM_020778.5(ALPK3):c.4821C>T (p.Phe1607=)
|
|
|
NM_020778.5(ALPK3):c.4828T>C (p.Ser1610Pro)
|
|
|
NM_020778.5(ALPK3):c.4832A>C (p.His1611Pro)
|
|
|
NM_020778.5(ALPK3):c.4833C>T (p.His1611=)
|
rs1419643960
|
|
NM_020778.5(ALPK3):c.483G>C (p.Val161=)
|
|
|
NM_020778.5(ALPK3):c.4841A>G (p.Asn1614Ser)
|
|
|
NM_020778.5(ALPK3):c.4841A>T (p.Asn1614Ile)
|
rs369329091
|
|
NM_020778.5(ALPK3):c.4841_4847dup (p.Tyr1616Ter)
|
rs2141576147
|
|
NM_020778.5(ALPK3):c.4855C>T (p.Leu1619=)
|
|
|
NM_020778.5(ALPK3):c.4862G>A (p.Gly1621Glu)
|
|
|
NM_020778.5(ALPK3):c.4863dup (p.Leu1622fs)
|
rs1555436332
|
|
NM_020778.5(ALPK3):c.4870C>T (p.Pro1624Ser)
|
|
|
NM_020778.5(ALPK3):c.4875C>T (p.Leu1625=)
|
|
|
NM_020778.5(ALPK3):c.4882C>T (p.Pro1628Ser)
|
|
|
NM_020778.5(ALPK3):c.4884G>A (p.Pro1628=)
|
|
|
NM_020778.5(ALPK3):c.4884G>C (p.Pro1628=)
|
|
|
NM_020778.5(ALPK3):c.4896C>A (p.His1632Gln)
|
rs1387694108
|
|
NM_020778.5(ALPK3):c.4896C>T (p.His1632=)
|
rs1387694108
|
|
NM_020778.5(ALPK3):c.4899C>A (p.Pro1633=)
|
|
|
NM_020778.5(ALPK3):c.4899C>T (p.Pro1633=)
|
rs143514559
|
|
NM_020778.5(ALPK3):c.4905C>G (p.Ala1635=)
|
rs2141576224
|
|
NM_020778.5(ALPK3):c.4915G>C (p.Gly1639Arg)
|
rs773881733
|
|
NM_020778.5(ALPK3):c.491C>T (p.Ser164Leu)
|
rs1963635371
|
|
NM_020778.5(ALPK3):c.4921A>C (p.Lys1641Gln)
|
rs1596159542
|
|
NM_020778.5(ALPK3):c.4931C>T (p.Ser1644Phe)
|
|
|
NM_020778.5(ALPK3):c.4933G>A (p.Ala1645Thr)
|
rs1964024754
|
|
NM_020778.5(ALPK3):c.4948T>C (p.Ser1650Pro)
|
|
|
NM_020778.5(ALPK3):c.4954C>A (p.Leu1652Met)
|
rs139738663
|
|
NM_020778.5(ALPK3):c.4954C>T (p.Leu1652=)
|
rs139738663
|
|
NM_020778.5(ALPK3):c.496_509del (p.Val166fs)
|
rs1466450842
|
|
NM_020778.5(ALPK3):c.4974G>A (p.Lys1658=)
|
|
|
NM_020778.5(ALPK3):c.4979G>A (p.Gly1660Asp)
|
rs1064796120
|
|
NM_020778.5(ALPK3):c.498C>T (p.Val166=)
|
|
|
NM_020778.5(ALPK3):c.4993C>T (p.Gln1665Ter)
|
|
|
NM_020778.5(ALPK3):c.5000C>T (p.Thr1667Ile)
|
|
|
NM_020778.5(ALPK3):c.5007G>A (p.Lys1669=)
|
|
|
NM_020778.5(ALPK3):c.5009G>A (p.Ser1670Asn)
|
|
|
NM_020778.5(ALPK3):c.5014C>T (p.Pro1672Ser)
|
|
|
NM_020778.5(ALPK3):c.5015C>T (p.Pro1672Leu)
|
|
|
NM_020778.5(ALPK3):c.5022C>T (p.Ser1674=)
|
|
|
NM_020778.5(ALPK3):c.5024A>G (p.Lys1675Arg)
|
|
|
NM_020778.5(ALPK3):c.5027C>T (p.Ala1676Val)
|
rs150250443
|
|
NM_020778.5(ALPK3):c.5028C>T (p.Ala1676=)
|
|
|
NM_020778.5(ALPK3):c.5034T>G (p.Pro1678=)
|
|
|
NM_020778.5(ALPK3):c.5035C>T (p.Gln1679Ter)
|
|
|
NM_020778.5(ALPK3):c.5042C>T (p.Ser1681Leu)
|
|
|
NM_020778.5(ALPK3):c.5057C>G (p.Thr1686Ser)
|
rs757392253
|
|
NM_020778.5(ALPK3):c.5060A>T (p.Gln1687Leu)
|
|
|
NM_020778.5(ALPK3):c.5065T>G (p.Leu1689Val)
|
|
|
NM_020778.5(ALPK3):c.5073_5077del (p.Gln1691fs)
|
|
|
NM_020778.5(ALPK3):c.5075C>G (p.Pro1692Arg)
|
|
|
NM_020778.5(ALPK3):c.5080A>G (p.Thr1694Ala)
|
|
|
NM_020778.5(ALPK3):c.5082C>G (p.Thr1694=)
|
|
|
NM_020778.5(ALPK3):c.5088G>A (p.Glu1696=)
|
|
|
NM_020778.5(ALPK3):c.5089G>A (p.Glu1697Lys)
|
rs2141576412
|
|
NM_020778.5(ALPK3):c.50C>T (p.Ser17Leu)
|
|
|
NM_020778.5(ALPK3):c.5104C>T (p.Gln1702Ter)
|
|
|
NM_020778.5(ALPK3):c.510C>T (p.Gly170=)
|
|
|
NM_020778.5(ALPK3):c.5115del (p.Ter1706SerextTer?)
|
rs753251432
|
|
NM_020778.5(ALPK3):c.518C>T (p.Thr173Ile)
|
rs2141556205
|
|
NM_020778.5(ALPK3):c.524A>C (p.Tyr175Ser)
|
|
|
NM_020778.5(ALPK3):c.524A>G (p.Tyr175Cys)
|
rs753599829
|
|
NM_020778.5(ALPK3):c.525C>G (p.Tyr175Ter)
|
|
|
NM_020778.5(ALPK3):c.528del (p.Ile177fs)
|
rs1064796122
|
|
NM_020778.5(ALPK3):c.540C>A (p.Arg180=)
|
|
|
NM_020778.5(ALPK3):c.542G>C (p.Trp181Ser)
|
rs1442088577
|
|
NM_020778.5(ALPK3):c.552G>A (p.Lys184=)
|
|
|
NM_020778.5(ALPK3):c.554T>C (p.Leu185Ser)
|
|
|
NM_020778.5(ALPK3):c.555G>A (p.Leu185=)
|
|
|
NM_020778.5(ALPK3):c.556A>G (p.Lys186Glu)
|
rs2141556244
|
|
NM_020778.5(ALPK3):c.55del (p.Ala19fs)
|
|
|
NM_020778.5(ALPK3):c.55dup (p.Ala19fs)
|
|
|
NM_020778.5(ALPK3):c.560G>A (p.Arg187His)
|
|
|
NM_020778.5(ALPK3):c.563A>G (p.Lys188Arg)
|
|
|
NM_020778.5(ALPK3):c.566_572delinsGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Ala189_Ala191delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysLysLys)
|
|
|
NM_020778.5(ALPK3):c.569C>G (p.Ala190Gly)
|
rs751010387
|
|
NM_020778.5(ALPK3):c.570G>A (p.Ala190=)
|
|
|
NM_020778.5(ALPK3):c.571_581dup (p.Glu195fs)
|
rs2141556264
|
|
NM_020778.5(ALPK3):c.572_573insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAACTGCGGC (p.Lys192fs)
|
|
|
NM_020778.5(ALPK3):c.576G>T (p.Lys192Asn)
|
|
|
NM_020778.5(ALPK3):c.578T>G (p.Leu193Arg)
|
|
|
NM_020778.5(ALPK3):c.580C>T (p.Arg194Cys)
|
|
|
NM_020778.5(ALPK3):c.583G>A (p.Glu195Lys)
|
|
|
NM_020778.5(ALPK3):c.585G>A (p.Glu195=)
|
|
|
NM_020778.5(ALPK3):c.588C>G (p.Ile196Met)
|
rs1165843264
|
|
NM_020778.5(ALPK3):c.589G>T (p.Glu197Ter)
|
rs1418106287
|
|
NM_020778.5(ALPK3):c.594G>C (p.Gln198His)
|
rs1596149684
|
|
NM_020778.5(ALPK3):c.598T>C (p.Trp200Arg)
|
|
|
NM_020778.5(ALPK3):c.5G>A (p.Gly2Glu)
|
|
|
NM_020778.5(ALPK3):c.605A>C (p.His202Pro)
|
rs761936926
|
|
NM_020778.5(ALPK3):c.605A>G (p.His202Arg)
|
rs761936926
|
|
NM_020778.5(ALPK3):c.606C>G (p.His202Gln)
|
|
|
NM_020778.5(ALPK3):c.607G>A (p.Glu203Lys)
|
|
|
NM_020778.5(ALPK3):c.607G>C (p.Glu203Gln)
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rs765142581
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NM_020778.5(ALPK3):c.607G>T (p.Glu203Ter)
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NM_020778.5(ALPK3):c.61G>T (p.Gly21Cys)
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rs1186307775
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NM_020778.5(ALPK3):c.61_62delinsT (p.Gly21fs)
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NM_020778.5(ALPK3):c.624G>A (p.Gly208=)
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NM_020778.5(ALPK3):c.624G>C (p.Gly208=)
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rs145003820
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NM_020778.5(ALPK3):c.624G>T (p.Gly208=)
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NM_020778.5(ALPK3):c.626A>T (p.Glu209Val)
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NM_020778.5(ALPK3):c.630C>G (p.Val210=)
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rs755716847
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NM_020778.5(ALPK3):c.630C>T (p.Val210=)
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rs755716847
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NM_020778.5(ALPK3):c.634A>G (p.Thr212Ala)
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NM_020778.5(ALPK3):c.634del (p.Thr212fs)
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rs2141556375
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NM_020778.5(ALPK3):c.635C>A (p.Thr212Asn)
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NM_020778.5(ALPK3):c.640C>A (p.Arg214Ser)
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NM_020778.5(ALPK3):c.645G>A (p.Lys215=)
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NM_020778.5(ALPK3):c.650G>A (p.Ser217Asn)
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NM_020778.5(ALPK3):c.652C>T (p.Pro218Ser)
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NM_020778.5(ALPK3):c.655G>T (p.Asp219Tyr)
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rs148244525
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NM_020778.5(ALPK3):c.658C>G (p.Arg220Gly)
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NM_020778.5(ALPK3):c.658C>T (p.Arg220Cys)
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NM_020778.5(ALPK3):c.664C>T (p.Gln222Ter)
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rs2141556442
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NM_020778.5(ALPK3):c.667C>T (p.Arg223Ter)
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NM_020778.5(ALPK3):c.669A>T (p.Arg223=)
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NM_020778.5(ALPK3):c.66C>T (p.Asp22=)
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NM_020778.5(ALPK3):c.673C>T (p.Arg225Trp)
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rs2141556445
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NM_020778.5(ALPK3):c.675G>A (p.Arg225=)
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NM_020778.5(ALPK3):c.676C>A (p.Arg226=)
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NM_020778.5(ALPK3):c.676C>T (p.Arg226Ter)
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rs749836697
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NM_020778.5(ALPK3):c.680T>A (p.Leu227Ter)
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rs2141556463
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NM_020778.5(ALPK3):c.681G>A (p.Leu227=)
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NM_020778.5(ALPK3):c.682_696del (p.Ser228_Ala232del)
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NM_020778.5(ALPK3):c.685G>A (p.Gly229Arg)
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NM_020778.5(ALPK3):c.688G>A (p.Ala230Thr)
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NM_020778.5(ALPK3):c.688_709del (p.Ala230fs)
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NM_020778.5(ALPK3):c.688dup (p.Ala230fs)
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NM_020778.5(ALPK3):c.690_697del (p.Gln231fs)
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NM_020778.5(ALPK3):c.691C>T (p.Gln231Ter)
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NM_020778.5(ALPK3):c.692A>G (p.Gln231Arg)
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rs964593614
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NM_020778.5(ALPK3):c.69_80del (p.Glu24_Gly27del)
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rs1163387390
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NM_020778.5(ALPK3):c.6G>A (p.Gly2=)
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rs1963372727
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NM_020778.5(ALPK3):c.701G>T (p.Gly234Val)
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rs1278708077
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NM_020778.5(ALPK3):c.705del (p.Ser236fs)
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NM_020778.5(ALPK3):c.707C>G (p.Ser236Trp)
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NM_020778.5(ALPK3):c.707C>T (p.Ser236Leu)
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NM_020778.5(ALPK3):c.708G>C (p.Ser236=)
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NM_020778.5(ALPK3):c.709G>T (p.Val237Phe)
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NM_020778.5(ALPK3):c.71A>G (p.Glu24Gly)
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rs1963374337
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NM_020778.5(ALPK3):c.721dup (p.Glu241fs)
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rs2141556552
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NM_020778.5(ALPK3):c.722A>C (p.Glu241Ala)
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NM_020778.5(ALPK3):c.723G>T (p.Glu241Asp)
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NM_020778.5(ALPK3):c.724C>A (p.Pro242Thr)
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rs2141556560
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NM_020778.5(ALPK3):c.724C>G (p.Pro242Ala)
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rs2141556560
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NM_020778.5(ALPK3):c.725C>T (p.Pro242Leu)
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NM_020778.5(ALPK3):c.734G>A (p.Gly245Glu)
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NM_020778.5(ALPK3):c.741G>A (p.Leu247=)
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NM_020778.5(ALPK3):c.744G>A (p.Ala248=)
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rs1963641415
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NM_020778.5(ALPK3):c.744G>C (p.Ala248=)
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NM_020778.5(ALPK3):c.755A>T (p.Glu252Val)
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NM_020778.5(ALPK3):c.757G>A (p.Gly253Arg)
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NM_020778.5(ALPK3):c.757G>C (p.Gly253Arg)
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NM_020778.5(ALPK3):c.75C>T (p.Asp25=)
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NM_020778.5(ALPK3):c.762_763del (p.Glu254fs)
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rs2141556595
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NM_020778.5(ALPK3):c.786T>C (p.Gly262=)
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NM_020778.5(ALPK3):c.786T>G (p.Gly262=)
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NM_020778.5(ALPK3):c.825C>T (p.Thr275=)
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NM_020778.5(ALPK3):c.826A>G (p.Thr276Ala)
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rs764928810
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NM_020778.5(ALPK3):c.82C>T (p.Pro28Ser)
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NM_020778.5(ALPK3):c.832G>C (p.Gly278Arg)
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NM_020778.5(ALPK3):c.842_843insT (p.Glu283fs)
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NM_020778.5(ALPK3):c.844C>G (p.Pro282Ala)
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NM_020778.5(ALPK3):c.845C>A (p.Pro282His)
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NM_020778.5(ALPK3):c.847G>A (p.Glu283Lys)
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NM_020778.5(ALPK3):c.852T>C (p.Asn284=)
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NM_020778.5(ALPK3):c.858_893del (p.Glu286_Cys297del)
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NM_020778.5(ALPK3):c.862G>C (p.Gly288Arg)
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rs909876510
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NM_020778.5(ALPK3):c.869A>C (p.His290Pro)
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NM_020778.5(ALPK3):c.876G>T (p.Leu292Phe)
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rs1963643413
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NM_020778.5(ALPK3):c.87G>A (p.Val29=)
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NM_020778.5(ALPK3):c.880A>G (p.Thr294Ala)
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rs941631732
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NM_020778.5(ALPK3):c.881C>T (p.Thr294Ile)
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NM_020778.5(ALPK3):c.882A>G (p.Thr294=)
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rs542316430
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NM_020778.5(ALPK3):c.884dup (p.Tyr295Ter)
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NM_020778.5(ALPK3):c.886A>G (p.Ile296Val)
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NM_020778.5(ALPK3):c.892G>T (p.Asp298Tyr)
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NM_020778.5(ALPK3):c.893A>G (p.Asp298Gly)
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NM_020778.5(ALPK3):c.894C>T (p.Asp298=)
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NM_020778.5(ALPK3):c.896C>A (p.Ala299Asp)
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NM_020778.5(ALPK3):c.896C>T (p.Ala299Val)
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NM_020778.5(ALPK3):c.898A>G (p.Met300Val)
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NM_020778.5(ALPK3):c.89G>C (p.Trp30Ser)
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NM_020778.5(ALPK3):c.904C>A (p.Leu302Met)
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NM_020778.5(ALPK3):c.914A>T (p.Gln305Leu)
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NM_020778.5(ALPK3):c.917G>A (p.Arg306Lys)
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rs2141556751
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NM_020778.5(ALPK3):c.919G>C (p.Ala307Pro)
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NM_020778.5(ALPK3):c.930G>C (p.Glu310Asp)
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NM_020778.5(ALPK3):c.939G>A (p.Gly313=)
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NM_020778.5(ALPK3):c.93C>T (p.Ile31=)
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NM_020778.5(ALPK3):c.957A>G (p.Lys319=)
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NM_020778.5(ALPK3):c.958G>T (p.Asp320Tyr)
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NM_020778.5(ALPK3):c.959A>G (p.Asp320Gly)
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NM_020778.5(ALPK3):c.965A>T (p.Glu322Val)
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NM_020778.5(ALPK3):c.973_976dup (p.Gly326fs)
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NM_020778.5(ALPK3):c.976G>A (p.Gly326Ser)
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NM_020778.5(ALPK3):c.980T>C (p.Leu327Pro)
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NM_020778.5(ALPK3):c.987G>C (p.Lys329Asn)
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NM_020778.5(ALPK3):c.98G>A (p.Ser33Asn)
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NM_020778.5(ALPK3):c.991G>A (p.Glu331Lys)
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rs1366856276
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NM_020778.5(ALPK3):c.994T>G (p.Leu332Val)
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NM_020778.5(ALPK3):c.996A>G (p.Leu332=)
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