NM_003690.5(PRKRA):c.*313G>A
|
rs3997879
|
0.22352
|
NM_003690.5(PRKRA):c.*158A>G
|
rs3997877
|
0.22348
|
NM_003690.5(PRKRA):c.*553A>G
|
rs3997881
|
0.21501
|
NM_003690.5(PRKRA):c.*655T>C
|
rs4533501
|
0.06663
|
NM_003690.5(PRKRA):c.-104G>A
|
rs545506202
|
0.00168
|
NM_003690.5(PRKRA):c.-124C>A
|
rs186454714
|
0.00060
|
NM_003690.5(PRKRA):c.-125G>A
|
rs190533045
|
0.00060
|
NM_015488.5(PNKD):c.*155C>T
|
rs753020574
|
0.00054
|
NM_003919.2(SGCE):c.-84T>C
|
rs747133401
|
0.00052
|
NM_003690.5(PRKRA):c.-64C>G
|
rs576729883
|
0.00041
|
NM_015488.5(PNKD):c.*1490G>A
|
rs971155594
|
0.00041
|
NM_006516.4(SLC2A1):c.*1337A>C
|
rs113441673
|
0.00038
|
NM_003919.2(SGCE):c.-97G>A
|
rs529057223
|
0.00037
|
NM_003690.5(PRKRA):c.*79G>A
|
rs9678530
|
0.00036
|
NM_003919.3(SGCE):c.*172T>C
|
rs112954947
|
0.00033
|
NM_003690.5(PRKRA):c.*151A>T
|
rs886055203
|
0.00026
|
NM_152296.5(ATP1A3):c.-148T>G
|
rs769525784
|
0.00026
|
NM_003690.5(PRKRA):c.*265A>C
|
rs886055201
|
0.00021
|
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)
|
rs5811
|
0.00013
|
NM_006516.4(SLC2A1):c.*1016A>G
|
rs886046334
|
0.00012
|
NM_015488.5(PNKD):c.*1118T>A
|
rs762512024
|
0.00012
|
NM_015488.5(PNKD):c.*868T>C
|
rs998136972
|
0.00011
|
NM_006516.4(SLC2A1):c.*587A>T
|
rs748209315
|
0.00010
|
NM_015488.5(PNKD):c.*826G>T
|
rs772338538
|
0.00010
|
NM_003690.5(PRKRA):c.-65C>G
|
rs557426364
|
0.00009
|
NM_006516.4(SLC2A1):c.*651G>T
|
rs886046337
|
0.00009
|
NM_006516.4(SLC2A1):c.*784A>G
|
rs886046335
|
0.00009
|
NM_152296.5(ATP1A3):c.607-7C>A
|
rs782819736
|
0.00009
|
NM_006516.4(SLC2A1):c.*560T>C
|
rs545613558
|
0.00007
|
NM_006516.4(SLC2A1):c.*609G>C
|
rs1020397288
|
0.00007
|
NM_003690.5(PRKRA):c.54T>C (p.Ser18=)
|
rs1235471739
|
0.00006
|
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr)
|
rs148050153
|
0.00006
|
NM_006516.4(SLC2A1):c.*750T>A
|
rs886046336
|
0.00006
|
NM_006516.4(SLC2A1):c.18+12G>T
|
rs587781171
|
0.00006
|
NM_152296.4(ATP1A3):c.-186G>A
|
rs886054478
|
0.00006
|
NM_152296.5(ATP1A3):c.*13C>A
|
rs781878302
|
0.00006
|
NM_152296.5(ATP1A3):c.-64A>G
|
rs373531937
|
0.00006
|
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=)
|
rs141362710
|
0.00006
|
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys)
|
rs782229302
|
0.00006
|
NM_006516.4(SLC2A1):c.*368A>C
|
rs946103123
|
0.00005
|
NM_006516.4(SLC2A1):c.*413G>A
|
rs543194486
|
0.00005
|
NM_003919.3(SGCE):c.712G>C (p.Glu238Gln)
|
rs200035109
|
0.00004
|
NM_006516.4(SLC2A1):c.-129G>T
|
rs936174986
|
0.00004
|
NM_006516.4(SLC2A1):c.-192G>C
|
rs886046342
|
0.00004
|
NM_006516.4(SLC2A1):c.-194G>A
|
rs984267596
|
0.00004
|
NM_003690.5(PRKRA):c.654G>A (p.Leu218=)
|
rs763093482
|
0.00003
|
NM_003690.5(PRKRA):c.784+15T>C
|
rs367606024
|
0.00003
|
NM_003919.3(SGCE):c.471G>A (p.Pro157=)
|
rs747531940
|
0.00003
|
NM_006516.4(SLC2A1):c.*1149C>A
|
rs779668330
|
0.00003
|
NM_006516.4(SLC2A1):c.*1246G>A
|
rs886046330
|
0.00003
|
NM_006516.4(SLC2A1):c.*1281A>G
|
rs1057515458
|
0.00003
|
NM_006516.4(SLC2A1):c.*597G>A
|
rs886046338
|
0.00003
|
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met)
|
rs577667739
|
0.00003
|
NM_015488.5(PNKD):c.*206C>T
|
rs886055622
|
0.00003
|
NM_015488.5(PNKD):c.302G>A (p.Arg101Gln)
|
rs368934552
|
0.00003
|
NM_015488.5(PNKD):c.37C>T (p.Arg13Trp)
|
rs886055619
|
0.00003
|
NM_152296.5(ATP1A3):c.*298C>T
|
rs781980860
|
0.00003
|
NM_152296.5(ATP1A3):c.3013+12C>T
|
rs782424595
|
0.00003
|
NM_006516.4(SLC2A1):c.*514G>T
|
rs886046339
|
0.00002
|
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser)
|
rs765479065
|
0.00002
|
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)
|
rs397514564
|
0.00002
|
NM_015488.4(PNKD):c.-79C>A
|
rs886055618
|
0.00002
|
NM_015488.5(PNKD):c.*1216G>A
|
rs999439159
|
0.00002
|
NM_015488.5(PNKD):c.*253C>T
|
rs1456301565
|
0.00002
|
NM_015488.5(PNKD):c.1130G>A (p.Arg377Gln)
|
rs148141539
|
0.00002
|
NM_015488.5(PNKD):c.341G>A (p.Arg114His)
|
rs781140528
|
0.00002
|
NM_015488.5(PNKD):c.597C>T (p.Asp199=)
|
rs139122042
|
0.00002
|
NM_152296.5(ATP1A3):c.2819+3G>A
|
rs782555113
|
0.00002
|
NM_003690.5(PRKRA):c.-117C>T
|
rs886055204
|
0.00001
|
NM_003690.5(PRKRA):c.-141C>A
|
rs1395280729
|
0.00001
|
NM_003690.5(PRKRA):c.80T>C (p.Ile27Thr)
|
rs780703241
|
0.00001
|
NM_003919.3(SGCE):c.19T>C (p.Trp7Arg)
|
rs1271444866
|
0.00001
|
NM_006516.4(SLC2A1):c.*107G>A
|
rs1643432524
|
0.00001
|
NM_006516.4(SLC2A1):c.*1205C>T
|
rs886046331
|
0.00001
|
NM_006516.4(SLC2A1):c.*1321T>A
|
rs1222650517
|
0.00001
|
NM_006516.4(SLC2A1):c.*775A>G
|
rs779010320
|
0.00001
|
NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=)
|
rs748983257
|
0.00001
|
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val)
|
rs1399284513
|
0.00001
|
NM_015488.5(PNKD):c.*1476A>G
|
rs886055623
|
0.00001
|
NM_015488.5(PNKD):c.*1569C>T
|
rs1694830978
|
0.00001
|
NM_015488.5(PNKD):c.*838C>T
|
rs560187472
|
0.00001
|
NM_015488.5(PNKD):c.476A>T (p.Glu159Val)
|
rs758928375
|
0.00001
|
NM_152296.5(ATP1A3):c.1303-15C>A
|
rs782749835
|
0.00001
|
NM_152296.5(ATP1A3):c.2009A>G (p.Glu670Gly)
|
rs2075172328
|
0.00001
|
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=)
|
rs886054473
|
0.00001
|
NM_152296.5(ATP1A3):c.2418+9T>A
|
rs950336124
|
0.00001
|
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=)
|
rs782140994
|
0.00001
|
NM_003690.5(PRKRA):c.*180C>T
|
rs886055202
|
|
NM_003690.5(PRKRA):c.*576G>A
|
rs1696648689
|
|
NM_003690.5(PRKRA):c.-11C>T
|
rs767401214
|
|
NM_003690.5(PRKRA):c.-133C>G
|
rs80197731
|
|
NM_003690.5(PRKRA):c.-14C>T
|
rs181793341
|
|
NM_003690.5(PRKRA):c.870C>T (p.Ser290=)
|
rs537898766
|
|
NM_003919.3(SGCE):c.1065C>T (p.Asp355=)
|
rs886062520
|
|
NM_003919.3(SGCE):c.450_452del (p.Ile150del)
|
rs886062522
|
|
NM_003919.3(SGCE):c.536T>C (p.Val179Ala)
|
rs886062521
|
|
NM_003919.3(SGCE):c.55G>A (p.Gly19Ser)
|
rs767335346
|
|
NM_006516.4(SLC2A1):c.*1079T>G
|
rs1426402573
|
|
NM_006516.4(SLC2A1):c.*1081T>A
|
rs886046333
|
|
NM_006516.4(SLC2A1):c.*1147G>C
|
rs886046332
|
|
NM_006516.4(SLC2A1):c.*1337A>G
|
rs113441673
|
|
NM_006516.4(SLC2A1):c.*1564C>T
|
rs1057515570
|
|
NM_006516.4(SLC2A1):c.*1611T>C
|
rs1057515457
|
|
NM_006516.4(SLC2A1):c.*216C>T
|
rs1643431578
|
|
NM_006516.4(SLC2A1):c.*92G>A
|
rs1266657991
|
|
NM_006516.4(SLC2A1):c.-202G>C
|
rs1016572946
|
|
NM_006516.4(SLC2A1):c.132C>T (p.Tyr44=)
|
rs886046341
|
|
NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe)
|
rs1643484697
|
|
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=)
|
rs1392755923
|
|
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=)
|
rs753500924
|
|
NM_015488.4(PNKD):c.-65G>A
|
rs570619432
|
|
NM_015488.5(PNKD):c.*1305A>G
|
rs1694825559
|
|
NM_015488.5(PNKD):c.*212G>A
|
rs989494170
|
|
NM_015488.5(PNKD):c.*679C>T
|
rs1694809581
|
|
NM_015488.5(PNKD):c.2T>G (p.Met1Arg)
|
rs775653461
|
|
NM_015488.5(PNKD):c.368C>T (p.Pro123Leu)
|
rs1694626257
|
|
NM_015488.5(PNKD):c.628C>A (p.His210Asn)
|
rs886055620
|
|
NM_152296.5(ATP1A3):c.*206T>C
|
rs1197209551
|
|
NM_152296.5(ATP1A3):c.*280T>A
|
rs886054472
|
|
NM_152296.5(ATP1A3):c.*99C>G
|
rs1555858636
|
|
NM_152296.5(ATP1A3):c.-130GACG[3]
|
rs879996553
|
|
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=)
|
rs782312004
|
|
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=)
|
rs886054476
|
|
NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=)
|
rs886054474
|
|
NM_152296.5(ATP1A3):c.1806+12G>C
|
rs1555862070
|
|
NM_152296.5(ATP1A3):c.2136C>T (p.Ser712=)
|
rs2075159123
|
|
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=)
|
rs782539594
|
|
NM_152296.5(ATP1A3):c.607-3C>T
|
rs886054475
|
|
NM_152296.5(ATP1A3):c.725-6C>T
|
rs782647558
|
|