NM_000811.3(GABRA6):c.255G>C (p.Gln85His)
|
rs115069685
|
0.00088
|
NM_021267.5(CERS1):c.37C>T (p.Pro13Ser)
|
rs868136098
|
0.00070
|
NM_021267.5(CERS1):c.787G>A (p.Val263Ile)
|
rs200539084
|
0.00065
|
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe)
|
rs138452760
|
0.00062
|
NM_001099403.2(PRDM8):c.721C>T (p.Pro241Ser)
|
rs201806195
|
0.00060
|
NM_001099403.2(PRDM8):c.1412G>A (p.Ser471Asn)
|
rs575791037
|
0.00046
|
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser)
|
rs149997095
|
0.00041
|
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)
|
rs374826256
|
0.00041
|
NM_001099403.2(PRDM8):c.884A>C (p.His295Pro)
|
rs767560709
|
0.00039
|
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser)
|
rs138667242
|
0.00038
|
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys)
|
rs145860632
|
0.00037
|
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)
|
rs550455609
|
0.00032
|
NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu)
|
rs200792895
|
0.00031
|
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser)
|
rs150907052
|
0.00031
|
NM_001099403.2(PRDM8):c.329G>C (p.Gly110Ala)
|
rs200777615
|
0.00030
|
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser)
|
rs200214191
|
0.00030
|
NM_001077350.3(NPRL3):c.442C>T (p.Arg148Cys)
|
rs201069648
|
0.00029
|
NM_001242896.3(DEPDC5):c.1466G>A (p.Ser489Asn)
|
rs200209747
|
0.00029
|
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg)
|
rs753397854
|
0.00029
|
NM_178013.4(PRIMA1):c.16T>G (p.Leu6Val)
|
rs186707302
|
0.00029
|
NM_001077350.3(NPRL3):c.745G>A (p.Glu249Lys)
|
rs200041907
|
0.00026
|
NM_001122752.2(SERPINI1):c.248A>T (p.Asn83Ile)
|
rs150681002
|
0.00026
|
NM_001242896.3(DEPDC5):c.2035G>A (p.Gly679Ser)
|
rs748634683
|
0.00026
|
NM_014467.3(SRPX2):c.737G>A (p.Arg246Gln)
|
rs146063801
|
0.00026
|
NM_020822.3(KCNT1):c.3496G>A (p.Gly1166Ser)
|
rs1201438079
|
0.00026
|
NM_178013.4(PRIMA1):c.228A>T (p.Pro76=)
|
rs368397994
|
0.00026
|
NM_001099403.2(PRDM8):c.1727T>A (p.Leu576Gln)
|
rs562277889
|
0.00024
|
NM_001242896.3(DEPDC5):c.3021G>T (p.Arg1007=)
|
rs201690337
|
0.00024
|
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser)
|
rs201776005
|
0.00023
|
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp)
|
rs946076987
|
0.00023
|
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr)
|
rs185576553
|
0.00021
|
NM_018100.4(EFHC1):c.550G>T (p.Val184Phe)
|
rs558446131
|
0.00021
|
NM_198586.3(NHLRC1):c.178C>T (p.His60Tyr)
|
rs539307365
|
0.00021
|
NM_001242896.3(DEPDC5):c.4391C>T (p.Thr1464Met)
|
rs556147064
|
0.00019
|
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr)
|
rs148022786
|
0.00019
|
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn)
|
rs142392473
|
0.00019
|
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser)
|
rs142107827
|
0.00019
|
NM_032737.4(LMNB2):c.1049G>A (p.Arg350Gln)
|
rs754644849
|
0.00019
|
NM_014467.3(SRPX2):c.920A>G (p.Gln307Arg)
|
rs147757229
|
0.00017
|
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)
|
rs79027628
|
0.00016
|
NM_001271.4(CHD2):c.551+5A>C
|
rs376498798
|
0.00016
|
NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr)
|
rs141250135
|
0.00016
|
NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp)
|
rs142690468
|
0.00016
|
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys)
|
rs145870223
|
0.00016
|
NM_021267.5(CERS1):c.257C>T (p.Ala86Val)
|
rs374895377
|
0.00016
|
NM_032737.4(LMNB2):c.1256C>T (p.Ser419Leu)
|
rs368949581
|
0.00016
|
NM_032737.4(LMNB2):c.1285G>A (p.Gly429Arg)
|
rs760709933
|
0.00016
|
NM_032737.4(LMNB2):c.715C>T (p.Arg239Trp)
|
rs375872872
|
0.00016
|
NM_153033.5(KCTD7):c.361C>T (p.Arg121Cys)
|
rs199604642
|
0.00016
|
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)
|
rs141919651
|
0.00015
|
NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys)
|
rs373196171
|
0.00015
|
NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg)
|
rs376384105
|
0.00015
|
NM_001077350.3(NPRL3):c.251T>G (p.Phe84Cys)
|
rs560167568
|
0.00014
|
NM_001077350.3(NPRL3):c.597G>C (p.Lys199Asn)
|
rs186859701
|
0.00014
|
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met)
|
rs564667614
|
0.00014
|
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu)
|
rs200641543
|
0.00014
|
NM_032737.4(LMNB2):c.692G>A (p.Arg231Gln)
|
rs754946662
|
0.00014
|
NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser)
|
rs139901494
|
0.00014
|
NM_000744.7(CHRNA4):c.1459C>T (p.Arg487Trp)
|
rs200200279
|
0.00013
|
NM_001099403.2(PRDM8):c.973G>A (p.Gly325Ser)
|
rs773668859
|
0.00013
|
NM_001122752.2(SERPINI1):c.508A>G (p.Arg170Gly)
|
rs774989939
|
0.00013
|
NM_005045.4(RELN):c.5969C>T (p.Pro1990Leu)
|
rs149473868
|
0.00013
|
NM_005045.4(RELN):c.6854G>T (p.Arg2285Leu)
|
rs116394157
|
0.00013
|
NM_021267.5(CERS1):c.289G>A (p.Ala97Thr)
|
rs374076863
|
0.00013
|
NM_021267.5(CERS1):c.685G>A (p.Gly229Ser)
|
rs373056917
|
0.00013
|
NM_021267.5(CERS1):c.708T>A (p.His236Gln)
|
rs902153714
|
0.00013
|
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu)
|
rs199624315
|
0.00013
|
NM_001077350.3(NPRL3):c.439C>T (p.Arg147Cys)
|
rs202129021
|
0.00012
|
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile)
|
rs367664536
|
0.00012
|
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn)
|
rs794726902
|
0.00012
|
NM_004287.5(GOSR2):c.552G>T (p.Lys184Asn)
|
rs760846460
|
0.00012
|
NM_005045.4(RELN):c.113T>A (p.Phe38Tyr)
|
rs149715692
|
0.00012
|
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met)
|
rs149474488
|
0.00012
|
NM_005506.4(SCARB2):c.38C>T (p.Ser13Phe)
|
rs144791636
|
0.00012
|
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser)
|
rs61757376
|
0.00012
|
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu)
|
rs369926953
|
0.00012
|
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys)
|
rs372028322
|
0.00012
|
NM_021267.5(CERS1):c.911C>T (p.Ala304Val)
|
rs373927986
|
0.00012
|
NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val)
|
rs566073131
|
0.00012
|
NM_001077350.3(NPRL3):c.14C>T (p.Thr5Ile)
|
rs776554504
|
0.00011
|
NM_001099403.2(PRDM8):c.1530G>T (p.Gln510His)
|
rs750341856
|
0.00011
|
NM_001112741.2(KCNC1):c.1657G>A (p.Glu553Lys)
|
rs531563186
|
0.00011
|
NM_001122752.2(SERPINI1):c.286A>G (p.Met96Val)
|
rs372528371
|
0.00011
|
NM_001242896.3(DEPDC5):c.2066A>C (p.Glu689Ala)
|
rs370940232
|
0.00011
|
NM_001242896.3(DEPDC5):c.3805+14C>T
|
rs376135083
|
0.00011
|
NM_001271.4(CHD2):c.1297A>G (p.Ile433Val)
|
rs368327967
|
0.00011
|
NM_005045.4(RELN):c.3667A>G (p.Lys1223Glu)
|
rs200269227
|
0.00011
|
NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn)
|
rs138978280
|
0.00011
|
NM_005097.4(LGI1):c.191C>T (p.Thr64Ile)
|
rs373616721
|
0.00011
|
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val)
|
rs147142116
|
0.00011
|
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys)
|
rs138955932
|
0.00011
|
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val)
|
rs199856913
|
0.00011
|
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val)
|
rs144565191
|
0.00011
|
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val)
|
rs374043005
|
0.00011
|
NM_014467.3(SRPX2):c.1199A>G (p.Asn400Ser)
|
rs141292909
|
0.00011
|
NM_014467.3(SRPX2):c.893G>A (p.Arg298His)
|
rs369663551
|
0.00011
|
NM_015973.5(GAL):c.199C>T (p.Arg67Trp)
|
rs200075890
|
0.00011
|
NM_020822.3(KCNT1):c.1770G>A (p.Lys590=)
|
rs745575483
|
0.00011
|
NM_021267.5(CERS1):c.95C>T (p.Ala32Val)
|
rs1387898936
|
0.00011
|
NM_032737.4(LMNB2):c.329C>T (p.Thr110Met)
|
rs371789042
|
0.00011
|
NM_153026.3(PRICKLE1):c.1412T>C (p.Met471Thr)
|
rs777597253
|
0.00011
|
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln)
|
rs756192425
|
0.00011
|
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val)
|
rs35731866
|
0.00011
|
NM_000100.4(CSTB):c.145G>A (p.Ala49Thr)
|
rs559906825
|
0.00010
|
NM_000742.4(CHRNA2):c.182G>A (p.Arg61Gln)
|
rs568479156
|
0.00010
|
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr)
|
rs141735618
|
0.00010
|
NM_005097.4(LGI1):c.1106C>T (p.Ser369Phe)
|
rs150357603
|
0.00010
|
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val)
|
rs144147706
|
0.00010
|
NM_005506.4(SCARB2):c.1265C>T (p.Ala422Val)
|
rs756606813
|
0.00010
|
NM_005506.4(SCARB2):c.826T>G (p.Ser276Ala)
|
rs188036542
|
0.00010
|
NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr)
|
rs763719276
|
0.00010
|
NM_005670.4(EPM2A):c.49C>G (p.Arg17Gly)
|
rs767010700
|
0.00010
|
NM_005670.4(EPM2A):c.736C>T (p.Pro246Ser)
|
rs141975071
|
0.00010
|
NM_015973.5(GAL):c.166G>A (p.Asp56Asn)
|
rs149894151
|
0.00010
|
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu)
|
rs369468811
|
0.00010
|
NM_018100.4(EFHC1):c.484C>T (p.His162Tyr)
|
rs112800954
|
0.00010
|
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln)
|
rs140476054
|
0.00010
|
NM_021267.5(CERS1):c.575C>T (p.Ser192Phe)
|
rs1009080328
|
0.00010
|
NM_032737.4(LMNB2):c.71C>A (p.Pro24Gln)
|
rs1188775924
|
0.00010
|
NM_153033.5(KCTD7):c.193C>T (p.Arg65Cys)
|
rs200321023
|
0.00010
|
NM_178013.4(PRIMA1):c.295G>A (p.Val99Ile)
|
rs200260569
|
0.00010
|
NM_000748.3(CHRNB2):c.1084C>T (p.Arg362Cys)
|
rs199928622
|
0.00009
|
NM_001077350.3(NPRL3):c.1297C>T (p.Arg433Trp)
|
rs372094629
|
0.00009
|
NM_001099403.2(PRDM8):c.1235A>T (p.Glu412Val)
|
rs1032197214
|
0.00009
|
NM_001099403.2(PRDM8):c.1367G>A (p.Arg456Lys)
|
rs940171879
|
0.00009
|
NM_001099403.2(PRDM8):c.1408G>A (p.Gly470Ser)
|
rs932918812
|
0.00009
|
NM_001112741.2(KCNC1):c.421G>T (p.Asp141Tyr)
|
rs376363769
|
0.00009
|
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser)
|
rs914048941
|
0.00009
|
NM_001161352.2(KCNMA1):c.1749+6G>A
|
rs373648078
|
0.00009
|
NM_001242896.3(DEPDC5):c.3013A>G (p.Met1005Val)
|
rs367860294
|
0.00009
|
NM_001242896.3(DEPDC5):c.4733A>G (p.Asp1578Gly)
|
rs201347461
|
0.00009
|
NM_004287.5(GOSR2):c.203+3A>G
|
rs201423456
|
0.00009
|
NM_005045.4(RELN):c.4843G>C (p.Asp1615His)
|
rs375040526
|
0.00009
|
NM_005045.4(RELN):c.576A>G (p.Leu192=)
|
rs142874980
|
0.00009
|
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln)
|
rs368906199
|
0.00009
|
NM_014467.3(SRPX2):c.981C>G (p.Asn327Lys)
|
rs370033099
|
0.00009
|
NM_015973.5(GAL):c.137-2A>G
|
rs762777313
|
0.00009
|
NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro)
|
rs749376467
|
0.00009
|
NM_018100.4(EFHC1):c.574G>A (p.Val192Ile)
|
rs781665913
|
0.00009
|
NM_021267.5(CERS1):c.493G>A (p.Ala165Thr)
|
rs45524532
|
0.00009
|
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met)
|
rs559947948
|
0.00009
|
NM_001099403.2(PRDM8):c.1621G>T (p.Ala541Ser)
|
rs371675673
|
0.00008
|
NM_001099403.2(PRDM8):c.1651G>A (p.Gly551Arg)
|
rs762888947
|
0.00008
|
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile)
|
rs200773083
|
0.00008
|
NM_001242896.3(DEPDC5):c.233G>C (p.Arg78Pro)
|
rs373578854
|
0.00008
|
NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys)
|
rs750467533
|
0.00008
|
NM_005045.4(RELN):c.5935G>A (p.Gly1979Ser)
|
rs139892362
|
0.00008
|
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr)
|
rs147324129
|
0.00008
|
NM_005670.4(EPM2A):c.222C>G (p.Asp74Glu)
|
rs748273406
|
0.00008
|
NM_018100.4(EFHC1):c.266A>G (p.His89Arg)
|
rs543160745
|
0.00008
|
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His)
|
rs575162600
|
0.00008
|
NM_020822.3(KCNT1):c.3588C>T (p.Val1196=)
|
rs758308334
|
0.00008
|
NM_021267.5(CERS1):c.164T>A (p.Leu55Gln)
|
rs918114133
|
0.00008
|
NM_021267.5(CERS1):c.857C>T (p.Ala286Val)
|
rs559340743
|
0.00008
|
NM_032737.4(LMNB2):c.542G>A (p.Arg181Gln)
|
rs781346530
|
0.00008
|
NM_001077350.3(NPRL3):c.275G>A (p.Arg92Gln)
|
rs367729589
|
0.00007
|
NM_001242896.3(DEPDC5):c.130C>G (p.Pro44Ala)
|
rs756878843
|
0.00007
|
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met)
|
rs200744555
|
0.00007
|
NM_001242896.3(DEPDC5):c.3545A>G (p.Glu1182Gly)
|
rs373459336
|
0.00007
|
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr)
|
rs146275216
|
0.00007
|
NM_005045.4(RELN):c.7861G>A (p.Gly2621Arg)
|
rs144453936
|
0.00007
|
NM_005097.4(LGI1):c.1669G>A (p.Ala557Thr)
|
rs370955995
|
0.00007
|
NM_014467.3(SRPX2):c.248T>C (p.Leu83Pro)
|
rs141168255
|
0.00007
|
NM_015973.5(GAL):c.140C>T (p.Ala47Val)
|
rs374472664
|
0.00007
|
NM_015973.5(GAL):c.368C>T (p.Ser123Phe)
|
rs747411981
|
0.00007
|
NM_015973.5(GAL):c.43G>A (p.Ala15Thr)
|
rs753843211
|
0.00007
|
NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys)
|
rs371610025
|
0.00007
|
NM_020822.3(KCNT1):c.2482C>T (p.Arg828Cys)
|
rs370800291
|
0.00007
|
NM_153033.5(KCTD7):c.76G>T (p.Asp26Tyr)
|
rs371919994
|
0.00007
|
NM_000100.4(CSTB):c.29A>C (p.Gln10Pro)
|
rs569851503
|
0.00006
|
NM_000744.7(CHRNA4):c.1535C>G (p.Ser512Cys)
|
rs754133410
|
0.00006
|
NM_000744.7(CHRNA4):c.1583C>T (p.Pro528Leu)
|
rs201739273
|
0.00006
|
NM_000744.7(CHRNA4):c.20G>C (p.Gly7Ala)
|
rs1025632281
|
0.00006
|
NM_000744.7(CHRNA4):c.553G>A (p.Asp185Asn)
|
rs200979226
|
0.00006
|
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu)
|
rs202114705
|
0.00006
|
NM_001077350.3(NPRL3):c.1298G>A (p.Arg433Gln)
|
rs781225056
|
0.00006
|
NM_001077350.3(NPRL3):c.1402G>A (p.Ala468Thr)
|
rs752246132
|
0.00006
|
NM_001077350.3(NPRL3):c.1420G>A (p.Gly474Arg)
|
rs374687256
|
0.00006
|
NM_001077350.3(NPRL3):c.1567C>T (p.Arg523Cys)
|
rs189283988
|
0.00006
|
NM_001077350.3(NPRL3):c.466G>A (p.Glu156Lys)
|
rs374060440
|
0.00006
|
NM_001077350.3(NPRL3):c.630-19C>G
|
rs753781901
|
0.00006
|
NM_001077350.3(NPRL3):c.653G>A (p.Arg218Gln)
|
rs201341279
|
0.00006
|
NM_001099403.2(PRDM8):c.1343G>A (p.Arg448Gln)
|
rs983217484
|
0.00006
|
NM_001099403.2(PRDM8):c.146C>A (p.Thr49Asn)
|
rs553212056
|
0.00006
|
NM_001099403.2(PRDM8):c.865A>G (p.Ser289Gly)
|
rs1443007613
|
0.00006
|
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala)
|
rs200420124
|
0.00006
|
NM_001242896.3(DEPDC5):c.1408C>T (p.Pro470Ser)
|
rs371312649
|
0.00006
|
NM_001242896.3(DEPDC5):c.2287C>T (p.Arg763Cys)
|
rs745342391
|
0.00006
|
NM_001242896.3(DEPDC5):c.2836T>C (p.Phe946Leu)
|
rs377335254
|
0.00006
|
NM_001242896.3(DEPDC5):c.2921G>A (p.Arg974His)
|
rs762596342
|
0.00006
|
NM_001242896.3(DEPDC5):c.3085A>G (p.Thr1029Ala)
|
rs537257402
|
0.00006
|
NM_001242896.3(DEPDC5):c.3622G>A (p.Ala1208Thr)
|
rs748662185
|
0.00006
|
NM_001242896.3(DEPDC5):c.5G>A (p.Arg2Lys)
|
rs756142773
|
0.00006
|
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe)
|
rs200797928
|
0.00006
|
NM_001242896.3(DEPDC5):c.90C>G (p.Phe30Leu)
|
rs374794334
|
0.00006
|
NM_001271.4(CHD2):c.4814A>C (p.Lys1605Thr)
|
rs780701076
|
0.00006
|
NM_001271.4(CHD2):c.553A>G (p.Thr185Ala)
|
rs1442904433
|
0.00006
|
NM_001271.4(CHD2):c.584C>T (p.Pro195Leu)
|
rs1381374225
|
0.00006
|
NM_004287.5(GOSR2):c.149G>A (p.Arg50His)
|
rs377765254
|
0.00006
|
NM_004287.5(GOSR2):c.393G>T (p.Gln131His)
|
rs182039780
|
0.00006
|
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys)
|
rs138053929
|
0.00006
|
NM_005045.4(RELN):c.10355G>A (p.Arg3452Lys)
|
rs149434986
|
0.00006
|
NM_005045.4(RELN):c.1566G>C (p.Leu522Phe)
|
rs200373269
|
0.00006
|
NM_005045.4(RELN):c.3593G>A (p.Arg1198His)
|
rs114655373
|
0.00006
|
NM_005045.4(RELN):c.5194C>T (p.Leu1732Phe)
|
rs755485060
|
0.00006
|
NM_005045.4(RELN):c.5345G>A (p.Arg1782His)
|
rs747527621
|
0.00006
|
NM_005045.4(RELN):c.5480A>G (p.Asn1827Ser)
|
rs374941914
|
0.00006
|
NM_005045.4(RELN):c.6031C>T (p.Arg2011Cys)
|
rs374628146
|
0.00006
|
NM_005045.4(RELN):c.6170T>G (p.Leu2057Arg)
|
rs138909076
|
0.00006
|
NM_005045.4(RELN):c.7036G>A (p.Val2346Met)
|
rs201788015
|
0.00006
|
NM_005045.4(RELN):c.718G>A (p.Val240Ile)
|
rs375141725
|
0.00006
|
NM_005045.4(RELN):c.8141A>G (p.His2714Arg)
|
rs746594396
|
0.00006
|
NM_005045.4(RELN):c.9446C>T (p.Ser3149Leu)
|
rs773908055
|
0.00006
|
NM_005097.4(LGI1):c.205G>A (p.Val69Ile)
|
rs147469708
|
0.00006
|
NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln)
|
rs751827409
|
0.00006
|
NM_005670.4(EPM2A):c.338A>G (p.Asn113Ser)
|
rs753867771
|
0.00006
|
NM_005670.4(EPM2A):c.436T>C (p.Tyr146His)
|
rs1393744393
|
0.00006
|
NM_005670.4(EPM2A):c.495G>T (p.Trp165Cys)
|
rs781291421
|
0.00006
|
NM_018100.4(EFHC1):c.1223A>T (p.Asp408Val)
|
rs773810917
|
0.00006
|
NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys)
|
rs377286138
|
0.00006
|
NM_018100.4(EFHC1):c.1A>G (p.Met1Val)
|
rs201520866
|
0.00006
|
NM_018100.4(EFHC1):c.350T>C (p.Ile117Thr)
|
rs201616140
|
0.00006
|
NM_018100.4(EFHC1):c.457C>T (p.Arg153Trp)
|
rs373625101
|
0.00006
|
NM_018100.4(EFHC1):c.742A>G (p.Ile248Val)
|
rs780571007
|
0.00006
|
NM_020822.3(KCNT1):c.2630C>T (p.Ala877Val)
|
rs774033346
|
0.00006
|
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys)
|
rs376757326
|
0.00006
|
NM_020822.3(KCNT1):c.3341G>A (p.Arg1114Gln)
|
rs758311066
|
0.00006
|
NM_021267.5(CERS1):c.1018C>G (p.Leu340Val)
|
rs774114834
|
0.00006
|
NM_021267.5(CERS1):c.419C>T (p.Pro140Leu)
|
rs202201774
|
0.00006
|
NM_032737.4(LMNB2):c.742C>T (p.Arg248Trp)
|
rs767801199
|
0.00006
|
NM_153026.3(PRICKLE1):c.1520C>T (p.Ser507Leu)
|
rs781019264
|
0.00006
|
NM_153026.3(PRICKLE1):c.1772G>C (p.Ser591Thr)
|
rs778075325
|
0.00006
|
NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr)
|
rs141795695
|
0.00006
|
NM_153026.3(PRICKLE1):c.2081A>G (p.Lys694Arg)
|
rs750904030
|
0.00006
|
NM_153026.3(PRICKLE1):c.649T>C (p.Cys217Arg)
|
rs772276749
|
0.00006
|
NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser)
|
rs375197568
|
0.00006
|
NM_153026.3(PRICKLE1):c.808C>A (p.Gln270Lys)
|
rs752070986
|
0.00006
|
NM_153033.5(KCTD7):c.266C>T (p.Thr89Met)
|
rs375586745
|
0.00006
|
NM_198586.3(NHLRC1):c.740C>T (p.Ala247Val)
|
rs367906378
|
0.00006
|
NM_198586.3(NHLRC1):c.805G>A (p.Val269Met)
|
rs140164729
|
0.00006
|
NM_198904.4(GABRG2):c.643C>T (p.Arg215Cys)
|
rs746626989
|
0.00006
|
NM_000100.4(CSTB):c.26C>T (p.Thr9Met)
|
rs778785343
|
0.00005
|
NM_000742.4(CHRNA2):c.1464G>A (p.Ser488=)
|
rs796052305
|
0.00005
|
NM_000748.3(CHRNB2):c.1273C>T (p.Arg425Trp)
|
rs77710036
|
0.00005
|
NM_001077350.3(NPRL3):c.1085C>T (p.Pro362Leu)
|
rs763923760
|
0.00005
|
NM_001077350.3(NPRL3):c.1226A>G (p.Tyr409Cys)
|
rs775053528
|
0.00005
|
NM_001077350.3(NPRL3):c.1252G>A (p.Glu418Lys)
|
rs547498080
|
0.00005
|
NM_001077350.3(NPRL3):c.1678G>T (p.Val560Phe)
|
rs752181668
|
0.00005
|
NM_001099403.2(PRDM8):c.1138G>A (p.Glu380Lys)
|
rs769213647
|
0.00005
|
NM_001099403.2(PRDM8):c.1466G>A (p.Gly489Asp)
|
rs1379672825
|
0.00005
|
NM_001099403.2(PRDM8):c.14G>A (p.Gly5Asp)
|
rs372824214
|
0.00005
|
NM_001099403.2(PRDM8):c.1691G>C (p.Ser564Thr)
|
rs753837771
|
0.00005
|
NM_001112741.2(KCNC1):c.1385G>A (p.Arg462Gln)
|
rs200123434
|
0.00005
|
NM_001112741.2(KCNC1):c.1673C>G (p.Pro558Arg)
|
rs749270474
|
0.00005
|
NM_001122752.2(SERPINI1):c.76A>G (p.Ile26Val)
|
rs372678518
|
0.00005
|
NM_001134407.3(GRIN2A):c.829A>G (p.Ile277Val)
|
rs376979811
|
0.00005
|
NM_001161352.2(KCNMA1):c.2015+5G>C
|
rs746586408
|
0.00005
|
NM_001242896.3(DEPDC5):c.1082-3T>A
|
rs780547994
|
0.00005
|
NM_001242896.3(DEPDC5):c.1153C>T (p.Arg385Trp)
|
rs200020310
|
0.00005
|
NM_001242896.3(DEPDC5):c.3217A>C (p.Ser1073Arg)
|
rs754608531
|
0.00005
|
NM_001242896.3(DEPDC5):c.4183G>A (p.Ala1395Thr)
|
rs764462476
|
0.00005
|
NM_001242896.3(DEPDC5):c.532A>G (p.Ser178Gly)
|
rs758035240
|
0.00005
|
NM_001271.4(CHD2):c.5351T>C (p.Val1784Ala)
|
rs776419537
|
0.00005
|
NM_004287.5(GOSR2):c.547G>A (p.Glu183Lys)
|
rs144472114
|
0.00005
|
NM_005045.4(RELN):c.10358G>A (p.Arg3453Gln)
|
rs200731411
|
0.00005
|
NM_005045.4(RELN):c.2464A>G (p.Arg822Gly)
|
rs945117892
|
0.00005
|
NM_005045.4(RELN):c.6190C>T (p.His2064Tyr)
|
rs767258528
|
0.00005
|
NM_005045.4(RELN):c.698C>T (p.Ala233Val)
|
rs371936391
|
0.00005
|
NM_005045.4(RELN):c.7423G>A (p.Val2475Ile)
|
rs764015748
|
0.00005
|
NM_005045.4(RELN):c.9478C>G (p.Leu3160Val)
|
rs185075003
|
0.00005
|
NM_005097.4(LGI1):c.310G>A (p.Asp104Asn)
|
rs145675377
|
0.00005
|
NM_005506.4(SCARB2):c.1325T>C (p.Ile442Thr)
|
rs1064794450
|
0.00005
|
NM_014467.3(SRPX2):c.221C>T (p.Pro74Leu)
|
rs773892997
|
0.00005
|
NM_015973.5(GAL):c.200G>C (p.Arg67Pro)
|
rs768058377
|
0.00005
|
NM_015973.5(GAL):c.216G>A (p.Met72Ile)
|
rs375393105
|
0.00005
|
NM_018100.4(EFHC1):c.1274T>G (p.Val425Gly)
|
rs529767823
|
0.00005
|
NM_018100.4(EFHC1):c.1886T>C (p.Ile629Thr)
|
rs199604518
|
0.00005
|
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn)
|
rs137852777
|
0.00005
|
NM_020822.3(KCNT1):c.110+1G>C
|
rs780331569
|
0.00005
|
NM_020822.3(KCNT1):c.1510+4C>T
|
rs554828530
|
0.00005
|
NM_020822.3(KCNT1):c.3298G>A (p.Ala1100Thr)
|
rs769422518
|
0.00005
|
NM_020822.3(KCNT1):c.3640C>T (p.Arg1214Trp)
|
rs150447764
|
0.00005
|
NM_032737.4(LMNB2):c.1234G>A (p.Val412Ile)
|
rs577848864
|
0.00005
|
NM_153026.3(PRICKLE1):c.1243A>G (p.Met415Val)
|
rs776720321
|
0.00005
|
NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=)
|
rs377668062
|
0.00005
|
NM_153026.3(PRICKLE1):c.1330A>C (p.Ile444Leu)
|
rs146199468
|
0.00005
|
NM_153026.3(PRICKLE1):c.1613A>C (p.Asp538Ala)
|
rs764577468
|
0.00005
|
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln)
|
rs369790443
|
0.00005
|
NM_153026.3(PRICKLE1):c.446T>C (p.Val149Ala)
|
rs528557291
|
0.00005
|
NM_178013.4(PRIMA1):c.433G>A (p.Gly145Arg)
|
rs779293897
|
0.00005
|
NM_198586.3(NHLRC1):c.721C>G (p.Leu241Val)
|
rs772155104
|
0.00005
|
NM_198904.4(GABRG2):c.549-3T>G
|
rs750459631
|
0.00005
|
NM_000100.4(CSTB):c.175G>A (p.Val59Ile)
|
rs531685360
|
0.00004
|
NM_000100.4(CSTB):c.221C>T (p.Pro74Leu)
|
rs753004113
|
0.00004
|
NM_000100.4(CSTB):c.224A>G (p.His75Arg)
|
rs755073483
|
0.00004
|
NM_000742.4(CHRNA2):c.1064G>A (p.Arg355His)
|
rs368791756
|
0.00004
|
NM_000742.4(CHRNA2):c.1198T>A (p.Ser400Thr)
|
rs771693410
|
0.00004
|
NM_000742.4(CHRNA2):c.905C>T (p.Ser302Leu)
|
rs367914235
|
0.00004
|
NM_000744.7(CHRNA4):c.1522G>A (p.Gly508Ser)
|
rs111286066
|
0.00004
|
NM_000744.7(CHRNA4):c.1625C>T (p.Pro542Leu)
|
rs121912281
|
0.00004
|
NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly)
|
rs764888239
|
0.00004
|
NM_000744.7(CHRNA4):c.514C>T (p.Gln172Ter)
|
rs112748821
|
0.00004
|
NM_000744.7(CHRNA4):c.585C>G (p.His195Gln)
|
rs121912248
|
0.00004
|
NM_000744.7(CHRNA4):c.979G>A (p.Val327Met)
|
rs201841018
|
0.00004
|
NM_000748.3(CHRNB2):c.1069G>T (p.Ala357Ser)
|
rs1421654764
|
0.00004
|
NM_000748.3(CHRNB2):c.1117G>A (p.Ala373Thr)
|
rs778714852
|
0.00004
|
NM_000748.3(CHRNB2):c.1315C>T (p.Arg439Trp)
|
rs945492622
|
0.00004
|
NM_000748.3(CHRNB2):c.538C>T (p.Arg180Cys)
|
rs1469333218
|
0.00004
|
NM_000748.3(CHRNB2):c.695G>A (p.Arg232His)
|
rs79646221
|
0.00004
|
NM_000748.3(CHRNB2):c.983C>T (p.Thr328Met)
|
rs145893879
|
0.00004
|
NM_001077350.3(NPRL3):c.1309C>T (p.Arg437Cys)
|
rs530150587
|
0.00004
|
NM_001077350.3(NPRL3):c.286C>T (p.His96Tyr)
|
rs374486402
|
0.00004
|
NM_001077350.3(NPRL3):c.515C>T (p.Ala172Val)
|
rs778177582
|
0.00004
|
NM_001077350.3(NPRL3):c.636C>G (p.Cys212Trp)
|
rs769173039
|
0.00004
|
NM_001077350.3(NPRL3):c.943C>T (p.His315Tyr)
|
rs772044858
|
0.00004
|
NM_001099403.2(PRDM8):c.10A>G (p.Thr4Ala)
|
rs190431626
|
0.00004
|
NM_001099403.2(PRDM8):c.1450G>A (p.Gly484Ser)
|
rs1014065137
|
0.00004
|
NM_001099403.2(PRDM8):c.1586C>T (p.Ala529Val)
|
rs760114885
|
0.00004
|
NM_001099403.2(PRDM8):c.1618G>T (p.Ala540Ser)
|
rs780056353
|
0.00004
|
NM_001099403.2(PRDM8):c.1666A>C (p.Asn556His)
|
rs768703640
|
0.00004
|
NM_001099403.2(PRDM8):c.2020T>C (p.Ser674Pro)
|
rs750098513
|
0.00004
|
NM_001099403.2(PRDM8):c.378A>T (p.Leu126Phe)
|
rs747752546
|
0.00004
|
NM_001099403.2(PRDM8):c.622G>A (p.Gly208Ser)
|
rs761182081
|
0.00004
|
NM_001099403.2(PRDM8):c.647A>T (p.Gln216Leu)
|
rs766078819
|
0.00004
|
NM_001099403.2(PRDM8):c.697C>G (p.Leu233Val)
|
rs771970888
|
0.00004
|
NM_001112741.2(KCNC1):c.1585G>A (p.Asp529Asn)
|
rs927483438
|
0.00004
|
NM_001122752.2(SERPINI1):c.1222G>A (p.Glu408Lys)
|
rs756112704
|
0.00004
|
NM_001122752.2(SERPINI1):c.332C>T (p.Ser111Phe)
|
rs769602150
|
0.00004
|
NM_001161352.2(KCNMA1):c.122C>T (p.Ser41Phe)
|
rs766759815
|
0.00004
|
NM_001161352.2(KCNMA1):c.173C>T (p.Ser58Leu)
|
rs776719617
|
0.00004
|
NM_001161352.2(KCNMA1):c.2276A>C (p.Glu759Ala)
|
rs767957728
|
0.00004
|
NM_001161352.2(KCNMA1):c.2966G>A (p.Arg989His)
|
rs369646039
|
0.00004
|
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met)
|
rs376264061
|
0.00004
|
NM_001242896.3(DEPDC5):c.1154G>A (p.Arg385Gln)
|
rs368032858
|
0.00004
|
NM_001242896.3(DEPDC5):c.1226C>G (p.Thr409Arg)
|
rs773704927
|
0.00004
|
NM_001242896.3(DEPDC5):c.1354G>A (p.Ala452Thr)
|
rs768264302
|
0.00004
|
NM_001242896.3(DEPDC5):c.2026C>G (p.Pro676Ala)
|
rs199603004
|
0.00004
|
NM_001242896.3(DEPDC5):c.2045T>A (p.Phe682Tyr)
|
rs373078069
|
0.00004
|
NM_001242896.3(DEPDC5):c.2377A>G (p.Met793Val)
|
rs370318709
|
0.00004
|
NM_001242896.3(DEPDC5):c.2480C>T (p.Pro827Leu)
|
rs374719445
|
0.00004
|
NM_001242896.3(DEPDC5):c.2486C>T (p.Pro829Leu)
|
rs370487077
|
0.00004
|
NM_001242896.3(DEPDC5):c.2996G>A (p.Arg999Gln)
|
rs201245740
|
0.00004
|
NM_001242896.3(DEPDC5):c.3206A>C (p.Gln1069Pro)
|
rs761678944
|
0.00004
|
NM_001242896.3(DEPDC5):c.3302G>A (p.Arg1101His)
|
rs971993042
|
0.00004
|
NM_001242896.3(DEPDC5):c.338A>T (p.Asp113Val)
|
rs529069517
|
0.00004
|
NM_001242896.3(DEPDC5):c.3547G>A (p.Ala1183Thr)
|
rs376438394
|
0.00004
|
NM_001242896.3(DEPDC5):c.3563C>T (p.Ser1188Leu)
|
rs376487148
|
0.00004
|
NM_001242896.3(DEPDC5):c.3659G>A (p.Gly1220Glu)
|
rs374871448
|
0.00004
|
NM_001242896.3(DEPDC5):c.3678G>A (p.Met1226Ile)
|
rs756692170
|
0.00004
|
NM_001242896.3(DEPDC5):c.3785C>T (p.Thr1262Met)
|
rs369298689
|
0.00004
|
NM_001242896.3(DEPDC5):c.380A>G (p.Tyr127Cys)
|
rs370881336
|
0.00004
|
NM_001242896.3(DEPDC5):c.3946C>G (p.Leu1316Val)
|
rs755051459
|
0.00004
|
NM_001242896.3(DEPDC5):c.4175C>T (p.Ala1392Val)
|
rs1420107846
|
0.00004
|
NM_001242896.3(DEPDC5):c.562+4C>T
|
rs553625749
|
0.00004
|
NM_001271.4(CHD2):c.1172C>G (p.Ser391Cys)
|
rs542243995
|
0.00004
|
NM_001271.4(CHD2):c.458A>G (p.Gln153Arg)
|
rs373051961
|
0.00004
|
NM_001271.4(CHD2):c.4688A>G (p.Glu1563Gly)
|
rs774715709
|
0.00004
|
NM_001271.4(CHD2):c.5032C>T (p.Arg1678Trp)
|
rs767024945
|
0.00004
|
NM_001271.4(CHD2):c.5036G>A (p.Arg1679Gln)
|
rs373039868
|
0.00004
|
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln)
|
rs564787975
|
0.00004
|
NM_001271.4(CHD2):c.5363G>A (p.Arg1788His)
|
rs140365508
|
0.00004
|
NM_004287.5(GOSR2):c.272G>A (p.Arg91His)
|
rs145168042
|
0.00004
|
NM_004287.5(GOSR2):c.637T>C (p.Ter213Arg)
|
rs1229223114
|
0.00004
|
NM_004287.5(GOSR2):c.80A>G (p.Lys27Arg)
|
rs373000501
|
0.00004
|
NM_005045.4(RELN):c.10097A>G (p.Asn3366Ser)
|
rs148140675
|
0.00004
|
NM_005045.4(RELN):c.1554+5A>G
|
rs778678895
|
0.00004
|
NM_005045.4(RELN):c.1817C>T (p.Thr606Ile)
|
rs540111252
|
0.00004
|
NM_005045.4(RELN):c.2084T>A (p.Phe695Tyr)
|
rs750188972
|
0.00004
|
NM_005045.4(RELN):c.2095G>A (p.Ala699Thr)
|
rs543233426
|
0.00004
|
NM_005045.4(RELN):c.2453A>G (p.Tyr818Cys)
|
rs771201055
|
0.00004
|
NM_005045.4(RELN):c.2466A>C (p.Arg822Ser)
|
rs779002595
|
0.00004
|
NM_005045.4(RELN):c.4133C>G (p.Ser1378Cys)
|
rs751271323
|
0.00004
|
NM_005045.4(RELN):c.6401A>G (p.Glu2134Gly)
|
rs1023433954
|
0.00004
|
NM_005045.4(RELN):c.65G>T (p.Arg22Met)
|
rs139532757
|
0.00004
|
NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile)
|
rs202172902
|
0.00004
|
NM_005045.4(RELN):c.7939G>A (p.Gly2647Ser)
|
rs781392761
|
0.00004
|
NM_005045.4(RELN):c.8068G>A (p.Gly2690Ser)
|
rs201264902
|
0.00004
|
NM_005045.4(RELN):c.9605+6T>A
|
rs376881823
|
0.00004
|
NM_005097.4(LGI1):c.1124C>T (p.Ala375Val)
|
rs778913748
|
0.00004
|
NM_005097.4(LGI1):c.344C>T (p.Pro115Leu)
|
rs763321607
|
0.00004
|
NM_005506.4(SCARB2):c.911A>G (p.Asn304Ser)
|
rs150870503
|
0.00004
|
NM_005506.4(SCARB2):c.914C>T (p.Thr305Met)
|
rs148588727
|
0.00004
|
NM_005670.4(EPM2A):c.100C>G (p.Pro34Ala)
|
rs796052438
|
0.00004
|
NM_005670.4(EPM2A):c.632C>T (p.Pro211Leu)
|
rs148475381
|
0.00004
|
NM_005670.4(EPM2A):c.845A>G (p.Gln282Arg)
|
rs763098296
|
0.00004
|
NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr)
|
rs755742563
|
0.00004
|
NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr)
|
rs780826386
|
0.00004
|
NM_014467.3(SRPX2):c.1144G>A (p.Val382Met)
|
rs148241932
|
0.00004
|
NM_015973.5(GAL):c.223+3G>A
|
rs202155593
|
0.00004
|
NM_015973.5(GAL):c.77C>T (p.Ser26Leu)
|
rs201644659
|
0.00004
|
NM_018100.4(EFHC1):c.1261C>T (p.Arg421Cys)
|
rs144389178
|
0.00004
|
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe)
|
rs750259384
|
0.00004
|
NM_018100.4(EFHC1):c.1333G>A (p.Ala445Thr)
|
rs770847993
|
0.00004
|
NM_018100.4(EFHC1):c.1459C>T (p.Pro487Ser)
|
rs775601315
|
0.00004
|
NM_018100.4(EFHC1):c.263C>T (p.Ala88Val)
|
rs145102896
|
0.00004
|
NM_018100.4(EFHC1):c.526A>G (p.Ile176Val)
|
rs369777400
|
0.00004
|
NM_018100.4(EFHC1):c.573+5A>G
|
rs560584332
|
0.00004
|
NM_018100.4(EFHC1):c.646C>T (p.Arg216Ter)
|
rs377165334
|
0.00004
|
NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln)
|
rs77682973
|
0.00004
|
NM_020822.3(KCNT1):c.1783C>T (p.Leu595Phe)
|
rs950983477
|
0.00004
|
NM_020822.3(KCNT1):c.2270C>T (p.Ser757Leu)
|
rs775923151
|
0.00004
|
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His)
|
rs373365707
|
0.00004
|
NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser)
|
rs748115007
|
0.00004
|
NM_020822.3(KCNT1):c.3505G>A (p.Glu1169Lys)
|
rs768746178
|
0.00004
|
NM_020822.3(KCNT1):c.3563C>T (p.Thr1188Met)
|
rs370090905
|
0.00004
|
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser)
|
rs779262121
|
0.00004
|
NM_020822.3(KCNT1):c.53G>T (p.Arg18Leu)
|
rs753714293
|
0.00004
|
NM_021267.5(CERS1):c.262C>T (p.Arg88Trp)
|
rs202181919
|
0.00004
|
NM_021267.5(CERS1):c.293A>G (p.Lys98Arg)
|
rs770877225
|
0.00004
|
NM_021267.5(CERS1):c.349G>T (p.Ala117Ser)
|
rs199956210
|
0.00004
|
NM_021267.5(CERS1):c.437G>A (p.Arg146Gln)
|
rs201005099
|
0.00004
|
NM_021267.5(CERS1):c.505A>G (p.Met169Val)
|
rs1230248222
|
0.00004
|
NM_021267.5(CERS1):c.682C>T (p.Arg228Cys)
|
rs746909154
|
0.00004
|
NM_021267.5(CERS1):c.797C>T (p.Ala266Val)
|
rs1245703626
|
0.00004
|
NM_021267.5(CERS1):c.817C>T (p.Arg273Cys)
|
rs772007237
|
0.00004
|
NM_021267.5(CERS1):c.821C>T (p.Thr274Met)
|
rs769809173
|
0.00004
|
NM_021267.5(CERS1):c.989G>T (p.Ser330Ile)
|
rs376643753
|
0.00004
|
NM_032737.4(LMNB2):c.1030G>A (p.Gly344Arg)
|
rs567492725
|
0.00004
|
NM_032737.4(LMNB2):c.1156A>G (p.Met386Val)
|
rs746460447
|
0.00004
|
NM_032737.4(LMNB2):c.1342G>T (p.Gly448Cys)
|
rs376707935
|
0.00004
|
NM_032737.4(LMNB2):c.1687G>A (p.Val563Ile)
|
rs201618968
|
0.00004
|
NM_032737.4(LMNB2):c.1700C>T (p.Ala567Val)
|
rs774978600
|
0.00004
|
NM_032737.4(LMNB2):c.1789G>A (p.Glu597Lys)
|
rs777988017
|
0.00004
|
NM_032737.4(LMNB2):c.341G>A (p.Arg114His)
|
rs201499035
|
0.00004
|
NM_032737.4(LMNB2):c.85G>C (p.Ala29Pro)
|
rs775899258
|
0.00004
|
NM_032737.4(LMNB2):c.967G>A (p.Gly323Ser)
|
rs771401646
|
0.00004
|
NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln)
|
rs757911190
|
0.00004
|
NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met)
|
rs151332996
|
0.00004
|
NM_153026.3(PRICKLE1):c.1541C>T (p.Thr514Ile)
|
rs374333566
|
0.00004
|
NM_153026.3(PRICKLE1):c.1646C>T (p.Ser549Leu)
|
rs370892022
|
0.00004
|
NM_153026.3(PRICKLE1):c.1942C>G (p.Arg648Gly)
|
rs370129051
|
0.00004
|
NM_153026.3(PRICKLE1):c.2044C>T (p.Arg682Cys)
|
rs768954477
|
0.00004
|
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His)
|
rs281865563
|
0.00004
|
NM_153026.3(PRICKLE1):c.625C>T (p.Arg209Cys)
|
rs777944504
|
0.00004
|
NM_153033.5(KCTD7):c.217G>A (p.Glu73Lys)
|
rs772773351
|
0.00004
|
NM_153033.5(KCTD7):c.506G>A (p.Arg169Gln)
|
rs745917176
|
0.00004
|
NM_153033.5(KCTD7):c.523C>T (p.Arg175Trp)
|
rs568539835
|
0.00004
|
NM_178013.4(PRIMA1):c.163C>T (p.Arg55Trp)
|
rs146599561
|
0.00004
|
NM_178013.4(PRIMA1):c.442G>A (p.Val148Met)
|
rs140016687
|
0.00004
|
NM_198586.3(NHLRC1):c.1064C>T (p.Pro355Leu)
|
rs144863228
|
0.00004
|
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr)
|
rs370044232
|
0.00004
|
NM_198586.3(NHLRC1):c.424G>C (p.Val142Leu)
|
rs376655413
|
0.00004
|
NM_198904.4(GABRG2):c.1087C>T (p.Arg363Trp)
|
rs374512652
|
0.00004
|
NM_000100.4(CSTB):c.167A>G (p.Lys56Arg)
|
rs935774172
|
0.00003
|
NM_000742.4(CHRNA2):c.1144C>T (p.Arg382Trp)
|
rs188098799
|
0.00003
|
NM_000742.4(CHRNA2):c.1275T>A (p.Cys425Ter)
|
rs530383631
|
0.00003
|
NM_000742.4(CHRNA2):c.1352C>T (p.Ala451Val)
|
rs753892989
|
0.00003
|
NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly)
|
rs150254933
|
0.00003
|
NM_000742.4(CHRNA2):c.1465-2A>G
|
rs1279319311
|
0.00003
|
NM_000742.4(CHRNA2):c.161C>T (p.Ser54Leu)
|
rs761493925
|
0.00003
|
NM_000742.4(CHRNA2):c.227C>T (p.Pro76Leu)
|
rs199810678
|
0.00003
|
NM_000742.4(CHRNA2):c.482C>T (p.Thr161Ile)
|
rs376045534
|
0.00003
|
NM_000742.4(CHRNA2):c.697A>C (p.Ile233Leu)
|
rs780491416
|
0.00003
|
NM_000742.4(CHRNA2):c.883G>A (p.Glu295Lys)
|
rs139727115
|
0.00003
|
NM_000744.7(CHRNA4):c.109G>A (p.Glu37Lys)
|
rs778087682
|
0.00003
|
NM_000744.7(CHRNA4):c.1327C>G (p.His443Asp)
|
rs796052319
|
0.00003
|
NM_000744.7(CHRNA4):c.1388C>G (p.Ala463Gly)
|
rs1381116077
|
0.00003
|
NM_000744.7(CHRNA4):c.193C>T (p.Arg65Cys)
|
rs748440038
|
0.00003
|
NM_000744.7(CHRNA4):c.817G>A (p.Glu273Lys)
|
rs758885593
|
0.00003
|
NM_000748.3(CHRNB2):c.1061A>C (p.His354Pro)
|
rs201793956
|
0.00003
|
NM_000748.3(CHRNB2):c.1226C>T (p.Pro409Leu)
|
rs1303546196
|
0.00003
|
NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys)
|
rs746480833
|
0.00003
|
NM_000748.3(CHRNB2):c.316C>T (p.Arg106Trp)
|
rs372273025
|
0.00003
|
NM_000748.3(CHRNB2):c.460G>A (p.Ala154Thr)
|
rs769929506
|
0.00003
|
NM_001077350.3(NPRL3):c.1145C>T (p.Ala382Val)
|
rs375562061
|
0.00003
|
NM_001077350.3(NPRL3):c.1202G>A (p.Arg401Gln)
|
rs868451771
|
0.00003
|
NM_001077350.3(NPRL3):c.125C>T (p.Pro42Leu)
|
rs762676113
|
0.00003
|
NM_001077350.3(NPRL3):c.1264C>T (p.Arg422Cys)
|
rs753763592
|
0.00003
|
NM_001077350.3(NPRL3):c.1562G>A (p.Arg521His)
|
rs758488510
|
0.00003
|
NM_001077350.3(NPRL3):c.1643G>A (p.Arg548His)
|
rs367598130
|
0.00003
|
NM_001077350.3(NPRL3):c.1707_1708del (p.Ter570SerextTer?)
|
rs756232589
|
0.00003
|
NM_001077350.3(NPRL3):c.181G>A (p.Asp61Asn)
|
rs748391280
|
0.00003
|
NM_001077350.3(NPRL3):c.563A>G (p.Gln188Arg)
|
rs191687929
|
0.00003
|
NM_001077350.3(NPRL3):c.641C>T (p.Ser214Leu)
|
rs556232826
|
0.00003
|
NM_001077350.3(NPRL3):c.767+6T>C
|
rs745822946
|
0.00003
|
NM_001099403.2(PRDM8):c.1374C>A (p.Ser458Arg)
|
rs1271340866
|
0.00003
|
NM_001099403.2(PRDM8):c.1409G>A (p.Gly470Asp)
|
rs1388275056
|
0.00003
|
NM_001099403.2(PRDM8):c.1673G>T (p.Gly558Val)
|
rs1454069268
|
0.00003
|
NM_001099403.2(PRDM8):c.1688C>G (p.Pro563Arg)
|
rs760525459
|
0.00003
|
NM_001099403.2(PRDM8):c.1721C>G (p.Pro574Arg)
|
rs746174564
|
0.00003
|
NM_001099403.2(PRDM8):c.1813C>G (p.Leu605Val)
|
rs749676209
|
0.00003
|
NM_001099403.2(PRDM8):c.2000A>G (p.Lys667Arg)
|
rs1223656077
|
0.00003
|
NM_001099403.2(PRDM8):c.202G>A (p.Val68Ile)
|
rs1030327610
|
0.00003
|
NM_001099403.2(PRDM8):c.757A>G (p.Ser253Gly)
|
rs749501319
|
0.00003
|
NM_001112741.2(KCNC1):c.1450C>G (p.Gln484Glu)
|
rs376505218
|
0.00003
|
NM_001112741.2(KCNC1):c.1574C>T (p.Ala525Val)
|
rs1169785679
|
0.00003
|
NM_001112741.2(KCNC1):c.1610C>T (p.Ser537Leu)
|
rs374684541
|
0.00003
|
NM_001112741.2(KCNC1):c.1619G>A (p.Arg540His)
|
rs375362627
|
0.00003
|
NM_001122752.2(SERPINI1):c.1173G>A (p.Met391Ile)
|
rs1370761997
|
0.00003
|
NM_001122752.2(SERPINI1):c.439G>A (p.Val147Met)
|
rs772999261
|
0.00003
|
NM_001122752.2(SERPINI1):c.61T>C (p.Phe21Leu)
|
rs545345009
|
0.00003
|
NM_001134407.3(GRIN2A):c.1007C>T (p.Pro336Leu)
|
rs757262372
|
0.00003
|
NM_001134407.3(GRIN2A):c.295G>A (p.Val99Met)
|
rs773569899
|
0.00003
|
NM_001161352.2(KCNMA1):c.1622A>G (p.Asn541Ser)
|
rs1447211434
|
0.00003
|
NM_001161352.2(KCNMA1):c.1831G>A (p.Val611Met)
|
rs200668674
|
0.00003
|
NM_001161352.2(KCNMA1):c.2367C>A (p.Asp789Glu)
|
rs587780363
|
0.00003
|
NM_001161352.2(KCNMA1):c.2405T>C (p.Met802Thr)
|
rs75573826
|
0.00003
|
NM_001161352.2(KCNMA1):c.2714C>T (p.Thr905Met)
|
rs201192736
|
0.00003
|
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=)
|
rs201397661
|
0.00003
|
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly)
|
rs886047270
|
0.00003
|
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp)
|
rs148648986
|
0.00003
|
NM_001161352.2(KCNMA1):c.469G>A (p.Gly157Ser)
|
rs767576877
|
0.00003
|
NM_001161352.2(KCNMA1):c.85A>G (p.Ile29Val)
|
rs369845234
|
0.00003
|
NM_001242896.3(DEPDC5):c.1067G>A (p.Arg356Gln)
|
rs764876578
|
0.00003
|
NM_001242896.3(DEPDC5):c.114T>G (p.Ile38Met)
|
rs566463688
|
0.00003
|
NM_001242896.3(DEPDC5):c.1166G>A (p.Arg389His)
|
rs768332862
|
0.00003
|
NM_001242896.3(DEPDC5):c.1334G>A (p.Ser445Asn)
|
rs201797550
|
0.00003
|
NM_001242896.3(DEPDC5):c.1456G>A (p.Glu486Lys)
|
rs1389850959
|
0.00003
|
NM_001242896.3(DEPDC5):c.1760G>A (p.Arg587Gln)
|
rs754007438
|
0.00003
|
NM_001242896.3(DEPDC5):c.1945A>G (p.Arg649Gly)
|
rs775910110
|
0.00003
|
NM_001242896.3(DEPDC5):c.2010C>A (p.His670Gln)
|
rs752274547
|
0.00003
|
NM_001242896.3(DEPDC5):c.2288G>A (p.Arg763His)
|
rs542384516
|
0.00003
|
NM_001242896.3(DEPDC5):c.2465C>G (p.Pro822Arg)
|
rs746372266
|
0.00003
|
NM_001242896.3(DEPDC5):c.2553G>C (p.Gln851His)
|
rs368375649
|
0.00003
|
NM_001242896.3(DEPDC5):c.2704G>A (p.Val902Ile)
|
rs374944205
|
0.00003
|
NM_001242896.3(DEPDC5):c.2875A>G (p.Ile959Val)
|
rs757332983
|
0.00003
|
NM_001242896.3(DEPDC5):c.2884G>T (p.Gly962Trp)
|
rs756338392
|
0.00003
|
NM_001242896.3(DEPDC5):c.2920C>T (p.Arg974Cys)
|
rs768342837
|
0.00003
|
NM_001242896.3(DEPDC5):c.3014T>A (p.Met1005Lys)
|
rs778753730
|
0.00003
|
NM_001242896.3(DEPDC5):c.3194A>G (p.Lys1065Arg)
|
rs757609394
|
0.00003
|
NM_001242896.3(DEPDC5):c.3316G>A (p.Ala1106Thr)
|
rs1247651367
|
0.00003
|
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe)
|
rs578244490
|
0.00003
|
NM_001242896.3(DEPDC5):c.3746G>A (p.Arg1249Gln)
|
rs747454808
|
0.00003
|
NM_001242896.3(DEPDC5):c.3871C>T (p.Arg1291Cys)
|
rs202227830
|
0.00003
|
NM_001242896.3(DEPDC5):c.4033+5A>G
|
rs886039270
|
0.00003
|
NM_001242896.3(DEPDC5):c.4580G>A (p.Arg1527Gln)
|
rs200552561
|
0.00003
|
NM_001242896.3(DEPDC5):c.4756C>T (p.Arg1586Trp)
|
rs768925194
|
0.00003
|
NM_001242896.3(DEPDC5):c.500C>T (p.Thr167Met)
|
rs575683658
|
0.00003
|
NM_001242896.3(DEPDC5):c.944A>G (p.Asn315Ser)
|
rs555944888
|
0.00003
|
NM_001271.4(CHD2):c.294+5C>T
|
rs777934535
|
0.00003
|
NM_001271.4(CHD2):c.3238G>C (p.Ala1080Pro)
|
rs760099829
|
0.00003
|
NM_001271.4(CHD2):c.4063C>A (p.Leu1355Met)
|
rs748470273
|
0.00003
|
NM_001271.4(CHD2):c.4693-3T>C
|
rs967867731
|
0.00003
|
NM_001271.4(CHD2):c.5248G>T (p.Ala1750Ser)
|
rs753595749
|
0.00003
|
NM_003042.4(SLC6A1):c.1302C>G (p.Ile434Met)
|
rs200670508
|
0.00003
|
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=)
|
rs372085480
|
0.00003
|
NM_004287.5(GOSR2):c.139C>T (p.Arg47Cys)
|
rs747328256
|
0.00003
|
NM_004287.5(GOSR2):c.269G>A (p.Arg90Gln)
|
rs760503363
|
0.00003
|
NM_004287.5(GOSR2):c.29+13C>T
|
rs747791818
|
0.00003
|
NM_004287.5(GOSR2):c.340T>C (p.Ser114Pro)
|
rs751635119
|
0.00003
|
NM_004287.5(GOSR2):c.510C>G (p.Asn170Lys)
|
rs34572603
|
0.00003
|
NM_004287.5(GOSR2):c.538C>T (p.Arg180Trp)
|
rs1305687118
|
0.00003
|
NM_004287.5(GOSR2):c.57G>A (p.Met19Ile)
|
rs369247929
|
0.00003
|
NM_004287.5(GOSR2):c.619G>A (p.Val207Met)
|
rs780839289
|
0.00003
|
NM_004287.5(GOSR2):c.71C>T (p.Thr24Met)
|
rs528931142
|
0.00003
|
NM_004287.5(GOSR2):c.8C>A (p.Pro3His)
|
rs1131691533
|
0.00003
|
NM_004408.4(DNM1):c.812G>A (p.Arg271His)
|
rs201656136
|
0.00003
|
NM_005045.4(RELN):c.10373G>A (p.Arg3458Gln)
|
rs766401565
|
0.00003
|
NM_005045.4(RELN):c.2176T>A (p.Phe726Ile)
|
rs200007424
|
0.00003
|
NM_005045.4(RELN):c.3217T>G (p.Phe1073Val)
|
rs1402561512
|
0.00003
|
NM_005045.4(RELN):c.334T>C (p.Phe112Leu)
|
rs201754586
|
0.00003
|
NM_005045.4(RELN):c.40G>A (p.Ala14Thr)
|
rs147551940
|
0.00003
|
NM_005045.4(RELN):c.415A>G (p.Thr139Ala)
|
rs1239164551
|
0.00003
|
NM_005045.4(RELN):c.4640G>A (p.Arg1547Gln)
|
rs774277969
|
0.00003
|
NM_005045.4(RELN):c.4946G>A (p.Arg1649His)
|
rs748067380
|
0.00003
|
NM_005045.4(RELN):c.544+6C>T
|
rs537314807
|
0.00003
|
NM_005045.4(RELN):c.6241G>A (p.Ala2081Thr)
|
rs761368012
|
0.00003
|
NM_005045.4(RELN):c.6470C>T (p.Pro2157Leu)
|
rs1412766990
|
0.00003
|
NM_005045.4(RELN):c.7121A>G (p.Glu2374Gly)
|
rs1227348163
|
0.00003
|
NM_005045.4(RELN):c.7253A>G (p.Asn2418Ser)
|
rs145844782
|
0.00003
|
NM_005045.4(RELN):c.8552A>T (p.Tyr2851Phe)
|
rs1319092399
|
0.00003
|
NM_005045.4(RELN):c.9091A>T (p.Ile3031Phe)
|
rs773318461
|
0.00003
|
NM_005045.4(RELN):c.9463G>A (p.Val3155Ile)
|
rs769668891
|
0.00003
|
NM_005045.4(RELN):c.9643A>G (p.Thr3215Ala)
|
rs142094612
|
0.00003
|
NM_005045.4(RELN):c.9753G>C (p.Glu3251Asp)
|
rs756854888
|
0.00003
|
NM_005097.4(LGI1):c.1318G>A (p.Val440Met)
|
rs144400448
|
0.00003
|
NM_005097.4(LGI1):c.1336A>C (p.Ile446Leu)
|
rs769204967
|
0.00003
|
NM_005097.4(LGI1):c.1459T>C (p.Tyr487His)
|
rs748991956
|
0.00003
|
NM_005097.4(LGI1):c.34G>T (p.Ala12Ser)
|
rs770065197
|
0.00003
|
NM_005506.4(SCARB2):c.1057A>G (p.Ile353Val)
|
rs542349309
|
0.00003
|
NM_005506.4(SCARB2):c.117G>A (p.Lys39=)
|
rs1006710581
|
0.00003
|
NM_005506.4(SCARB2):c.1249A>G (p.Ile417Val)
|
rs778593496
|
0.00003
|
NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe)
|
rs752416481
|
0.00003
|
NM_005506.4(SCARB2):c.523G>A (p.Glu175Lys)
|
rs751711805
|
0.00003
|
NM_005506.4(SCARB2):c.863A>G (p.Gln288Arg)
|
rs963202088
|
0.00003
|
NM_005670.4(EPM2A):c.190G>A (p.Val64Met)
|
rs749279494
|
0.00003
|
NM_005670.4(EPM2A):c.214G>A (p.Ala72Thr)
|
rs992596583
|
0.00003
|
NM_005670.4(EPM2A):c.241G>A (p.Val81Met)
|
rs747386643
|
0.00003
|
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp)
|
rs376750373
|
0.00003
|
NM_005670.4(EPM2A):c.553G>A (p.Gly185Arg)
|
rs796052423
|
0.00003
|
NM_005670.4(EPM2A):c.631C>A (p.Pro211Thr)
|
rs748048885
|
0.00003
|
NM_005670.4(EPM2A):c.761C>T (p.Ala254Val)
|
rs138798058
|
0.00003
|
NM_005670.4(EPM2A):c.815G>A (p.Arg272His)
|
rs958366800
|
0.00003
|
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys)
|
rs754779408
|
0.00003
|
NM_014467.3(SRPX2):c.1288C>T (p.Arg430Cys)
|
rs757158053
|
0.00003
|
NM_014467.3(SRPX2):c.215A>C (p.Tyr72Ser)
|
rs121918364
|
0.00003
|
NM_014467.3(SRPX2):c.305C>T (p.Ser102Leu)
|
rs1237471672
|
0.00003
|
NM_014467.3(SRPX2):c.959C>T (p.Ala320Val)
|
rs780126596
|
0.00003
|
NM_014467.3(SRPX2):c.99G>A (p.Pro33=)
|
rs766670891
|
0.00003
|
NM_018100.4(EFHC1):c.1016G>A (p.Gly339Glu)
|
rs779882152
|
0.00003
|
NM_018100.4(EFHC1):c.1225G>A (p.Val409Ile)
|
rs766874585
|
0.00003
|
NM_018100.4(EFHC1):c.125G>C (p.Arg42Pro)
|
rs773598517
|
0.00003
|
NM_018100.4(EFHC1):c.1606C>G (p.Arg536Gly)
|
rs779990464
|
0.00003
|
NM_018100.4(EFHC1):c.1639A>G (p.Ser547Gly)
|
rs759767484
|
0.00003
|
NM_018100.4(EFHC1):c.286-1G>A
|
rs1351442830
|
0.00003
|
NM_018100.4(EFHC1):c.352C>T (p.Arg118Cys)
|
rs764096785
|
0.00003
|
NM_018100.4(EFHC1):c.778C>T (p.Arg260Trp)
|
rs1164027334
|
0.00003
|
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys)
|
rs201543041
|
0.00003
|
NM_018100.4(EFHC1):c.896A>G (p.Lys299Arg)
|
rs138973203
|
0.00003
|
NM_020822.3(KCNT1):c.1777G>A (p.Val593Met)
|
rs779590747
|
0.00003
|
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln)
|
rs1188425438
|
0.00003
|
NM_020822.3(KCNT1):c.2117G>A (p.Arg706Gln)
|
rs761289867
|
0.00003
|
NM_020822.3(KCNT1):c.2119C>T (p.Arg707Trp)
|
rs568144711
|
0.00003
|
NM_020822.3(KCNT1):c.2176G>A (p.Asp726Asn)
|
rs1367605908
|
0.00003
|
NM_020822.3(KCNT1):c.2221G>A (p.Asp741Asn)
|
rs375403065
|
0.00003
|
NM_020822.3(KCNT1):c.2224G>A (p.Glu742Lys)
|
rs749302270
|
0.00003
|
NM_020822.3(KCNT1):c.3149C>T (p.Thr1050Ile)
|
rs1313669242
|
0.00003
|
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe)
|
rs769083534
|
0.00003
|
NM_020822.3(KCNT1):c.675G>A (p.Thr225=)
|
rs773255063
|
0.00003
|
NM_020822.3(KCNT1):c.776C>T (p.Ala259Val)
|
rs776559951
|
0.00003
|
NM_021267.5(CERS1):c.591-3C>T
|
rs755223903
|
0.00003
|
NM_021267.5(CERS1):c.836C>G (p.Pro279Arg)
|
rs778227106
|
0.00003
|
NM_032737.4(LMNB2):c.1006C>T (p.Arg336Trp)
|
rs775486191
|
0.00003
|
NM_032737.4(LMNB2):c.1420G>A (p.Val474Ile)
|
rs771415464
|
0.00003
|
NM_032737.4(LMNB2):c.1631C>T (p.Ser544Leu)
|
rs776253195
|
0.00003
|
NM_032737.4(LMNB2):c.1634C>T (p.Thr545Met)
|
rs746479856
|
0.00003
|
NM_032737.4(LMNB2):c.421G>A (p.Glu141Lys)
|
rs370270636
|
0.00003
|
NM_032737.4(LMNB2):c.745C>A (p.Gln249Lys)
|
rs752056497
|
0.00003
|
NM_032737.4(LMNB2):c.802G>A (p.Asp268Asn)
|
rs1013986586
|
0.00003
|
NM_032737.4(LMNB2):c.911G>A (p.Arg304His)
|
rs567796688
|
0.00003
|
NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys)
|
rs748636455
|
0.00003
|
NM_153026.3(PRICKLE1):c.1298A>G (p.Asn433Ser)
|
rs748766846
|
0.00003
|
NM_153026.3(PRICKLE1):c.1648G>A (p.Val550Met)
|
rs760050261
|
0.00003
|
NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu)
|
rs771584708
|
0.00003
|
NM_153026.3(PRICKLE1):c.1985A>G (p.Asn662Ser)
|
rs769599129
|
0.00003
|
NM_153026.3(PRICKLE1):c.2027G>A (p.Arg676Gln)
|
rs377294908
|
0.00003
|
NM_153026.3(PRICKLE1):c.2224G>A (p.Gly742Ser)
|
rs370967125
|
0.00003
|
NM_153026.3(PRICKLE1):c.2425C>G (p.Gln809Glu)
|
rs142613488
|
0.00003
|
NM_153026.3(PRICKLE1):c.424G>A (p.Ala142Thr)
|
rs1060502984
|
0.00003
|
NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr)
|
rs746768839
|
0.00003
|
NM_153026.3(PRICKLE1):c.706C>T (p.Arg236Cys)
|
rs372213429
|
0.00003
|
NM_153026.3(PRICKLE1):c.914C>T (p.Thr305Met)
|
rs375459191
|
0.00003
|
NM_153026.3(PRICKLE1):c.977G>A (p.Arg326Gln)
|
rs752116352
|
0.00003
|
NM_153033.5(KCTD7):c.121G>A (p.Ala41Thr)
|
rs766856368
|
0.00003
|
NM_153033.5(KCTD7):c.145T>C (p.Phe49Leu)
|
rs559020294
|
0.00003
|
NM_153033.5(KCTD7):c.226A>G (p.Met76Val)
|
rs200569899
|
0.00003
|
NM_153033.5(KCTD7):c.400A>G (p.Ile134Val)
|
rs751720071
|
0.00003
|
NM_178013.4(PRIMA1):c.146G>A (p.Arg49Gln)
|
rs745490663
|
0.00003
|
NM_178013.4(PRIMA1):c.176C>T (p.Pro59Leu)
|
rs550883370
|
0.00003
|
NM_178013.4(PRIMA1):c.98C>T (p.Thr33Met)
|
rs760874562
|
0.00003
|
NM_198586.3(NHLRC1):c.1072A>G (p.Met358Val)
|
rs765443391
|
0.00003
|
NM_198586.3(NHLRC1):c.1087C>G (p.Leu363Val)
|
rs1275828844
|
0.00003
|
NM_198586.3(NHLRC1):c.122C>A (p.Pro41Gln)
|
rs759908693
|
0.00003
|
NM_198586.3(NHLRC1):c.337G>A (p.Ala113Thr)
|
rs570505924
|
0.00003
|
NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys)
|
rs762082236
|
0.00002
|
NM_000100.4(CSTB):c.235C>T (p.Pro79Ser)
|
rs766285245
|
0.00002
|
NM_000742.4(CHRNA2):c.1019C>T (p.Thr340Ile)
|
rs758255768
|
0.00002
|
NM_000742.4(CHRNA2):c.1037C>A (p.Thr346Asn)
|
rs767656036
|
0.00002
|
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser)
|
rs770305730
|
0.00002
|
NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln)
|
rs374512926
|
0.00002
|
NM_000742.4(CHRNA2):c.1223T>C (p.Val408Ala)
|
rs747909980
|
0.00002
|
NM_000742.4(CHRNA2):c.1528A>G (p.Ile510Val)
|
rs528528743
|
0.00002
|
NM_000742.4(CHRNA2):c.1531G>A (p.Val511Ile)
|
rs796052306
|
0.00002
|
NM_000742.4(CHRNA2):c.294+5G>A
|
rs774398407
|
0.00002
|
NM_000742.4(CHRNA2):c.394T>A (p.Ser132Thr)
|
rs775662796
|
0.00002
|
NM_000742.4(CHRNA2):c.417G>T (p.Met139Ile)
|
rs748755253
|
0.00002
|
NM_000742.4(CHRNA2):c.432C>A (p.Asp144Glu)
|
rs796052297
|
0.00002
|
NM_000742.4(CHRNA2):c.688G>A (p.Glu230Lys)
|
rs747493891
|
0.00002
|
NM_000742.4(CHRNA2):c.880G>A (p.Gly294Ser)
|
rs1039488837
|
0.00002
|
NM_000744.7(CHRNA4):c.1054G>A (p.Val352Met)
|
rs121912264
|
0.00002
|
NM_000744.7(CHRNA4):c.1082C>T (p.Pro361Leu)
|
rs267606048
|
0.00002
|
NM_000744.7(CHRNA4):c.118C>T (p.Leu40Phe)
|
rs1568819698
|
0.00002
|
NM_000744.7(CHRNA4):c.1412T>C (p.Met471Thr)
|
rs1317529556
|
0.00002
|
NM_000744.7(CHRNA4):c.1537C>T (p.Arg513Cys)
|
rs201864944
|
0.00002
|
NM_000744.7(CHRNA4):c.181G>A (p.Val61Met)
|
rs150451372
|
0.00002
|
NM_000744.7(CHRNA4):c.228+10G>T
|
rs759148756
|
0.00002
|
NM_000744.7(CHRNA4):c.334C>T (p.Arg112Cys)
|
rs375654386
|
0.00002
|
NM_000744.7(CHRNA4):c.362C>T (p.Pro121Leu)
|
rs377114983
|
0.00002
|
NM_000744.7(CHRNA4):c.751A>G (p.Ile251Val)
|
rs776882201
|
0.00002
|
NM_000744.7(CHRNA4):c.754A>G (p.Ile252Val)
|
rs201865234
|
0.00002
|
NM_000744.7(CHRNA4):c.808G>A (p.Glu270Lys)
|
rs765977956
|
0.00002
|
NM_000748.3(CHRNB2):c.1034C>T (p.Ala345Val)
|
rs141511378
|
0.00002
|
NM_000748.3(CHRNB2):c.1114G>A (p.Gly372Ser)
|
rs753731408
|
0.00002
|
NM_000748.3(CHRNB2):c.1314G>A (p.Met438Ile)
|
rs200910048
|
0.00002
|
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr)
|
rs199885651
|
0.00002
|
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys)
|
rs780175030
|
0.00002
|
NM_000748.3(CHRNB2):c.734del (p.Cys245fs)
|
rs780184576
|
0.00002
|
NM_001077350.3(NPRL3):c.1048G>A (p.Glu350Lys)
|
rs761443880
|
0.00002
|
NM_001077350.3(NPRL3):c.1199G>A (p.Arg400His)
|
rs535478389
|
0.00002
|
NM_001077350.3(NPRL3):c.1265G>A (p.Arg422His)
|
rs765841003
|
0.00002
|
NM_001077350.3(NPRL3):c.127C>T (p.Arg43Cys)
|
rs770318147
|
0.00002
|
NM_001077350.3(NPRL3):c.1282G>A (p.Val428Ile)
|
rs771113936
|
0.00002
|
NM_001077350.3(NPRL3):c.1306G>A (p.Gly436Ser)
|
rs548390527
|
0.00002
|
NM_001077350.3(NPRL3):c.1330G>A (p.Ala444Thr)
|
rs368198378
|
0.00002
|
NM_001077350.3(NPRL3):c.1448C>T (p.Thr483Met)
|
rs1055200832
|
0.00002
|
NM_001077350.3(NPRL3):c.1484G>A (p.Arg495His)
|
rs750844568
|
0.00002
|
NM_001077350.3(NPRL3):c.1531C>T (p.Arg511Cys)
|
rs747602641
|
0.00002
|
NM_001077350.3(NPRL3):c.318+3A>T
|
rs746765533
|
0.00002
|
NM_001077350.3(NPRL3):c.428A>G (p.His143Arg)
|
rs959374963
|
0.00002
|
NM_001077350.3(NPRL3):c.470A>G (p.Glu157Gly)
|
rs762922931
|
0.00002
|
NM_001077350.3(NPRL3):c.5G>C (p.Arg2Pro)
|
rs752487586
|
0.00002
|
NM_001077350.3(NPRL3):c.755T>C (p.Leu252Pro)
|
rs747035776
|
0.00002
|
NM_001077350.3(NPRL3):c.769C>G (p.Pro257Ala)
|
rs746568841
|
0.00002
|
NM_001077350.3(NPRL3):c.905C>T (p.Ala302Val)
|
rs777790535
|
0.00002
|
NM_001077350.3(NPRL3):c.958G>A (p.Gly320Ser)
|
rs375417903
|
0.00002
|
NM_001099403.2(PRDM8):c.1075G>A (p.Gly359Ser)
|
rs1369436425
|
0.00002
|
NM_001099403.2(PRDM8):c.1114G>A (p.Ala372Thr)
|
rs910463955
|
0.00002
|
NM_001099403.2(PRDM8):c.1300G>A (p.Glu434Lys)
|
rs1267354661
|
0.00002
|
NM_001099403.2(PRDM8):c.269G>A (p.Arg90Gln)
|
rs748762942
|
0.00002
|
NM_001099403.2(PRDM8):c.26G>A (p.Gly9Asp)
|
rs756625230
|
0.00002
|
NM_001099403.2(PRDM8):c.373G>A (p.Glu125Lys)
|
rs1162839638
|
0.00002
|
NM_001099403.2(PRDM8):c.412C>T (p.Leu138Phe)
|
rs775975261
|
0.00002
|
NM_001099403.2(PRDM8):c.679T>A (p.Phe227Ile)
|
rs768596814
|
0.00002
|
NM_001112741.2(KCNC1):c.1537G>A (p.Ala513Thr)
|
rs769979889
|
0.00002
|
NM_001112741.2(KCNC1):c.1681G>A (p.Gly561Arg)
|
rs1417612823
|
0.00002
|
NM_001112741.2(KCNC1):c.433G>C (p.Gly145Arg)
|
rs759773311
|
0.00002
|
NM_001112741.2(KCNC1):c.688G>C (p.Gly230Arg)
|
rs1323463103
|
0.00002
|
NM_001112741.2(KCNC1):c.696A>C (p.Gln232His)
|
rs775885483
|
0.00002
|
NM_001122752.2(SERPINI1):c.1201A>C (p.Asn401His)
|
rs780903060
|
0.00002
|
NM_001122752.2(SERPINI1):c.1221C>A (p.Phe407Leu)
|
rs149238028
|
0.00002
|
NM_001122752.2(SERPINI1):c.221A>G (p.His74Arg)
|
rs757918199
|
0.00002
|
NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu)
|
rs781486255
|
0.00002
|
NM_001122752.2(SERPINI1):c.388A>C (p.Lys130Gln)
|
rs967193064
|
0.00002
|
NM_001122752.2(SERPINI1):c.881+4T>G
|
rs766034834
|
0.00002
|
NM_001122752.2(SERPINI1):c.917T>C (p.Val306Ala)
|
rs779353952
|
0.00002
|
NM_001122752.2(SERPINI1):c.923A>C (p.Lys308Thr)
|
rs201695047
|
0.00002
|
NM_001134407.3(GRIN2A):c.2543G>A (p.Cys848Tyr)
|
rs779911797
|
0.00002
|
NM_001134407.3(GRIN2A):c.2686A>G (p.Lys896Glu)
|
rs1436853714
|
0.00002
|
NM_001134407.3(GRIN2A):c.2779A>G (p.Arg927Gly)
|
rs761044372
|
0.00002
|
NM_001161352.2(KCNMA1):c.1306G>A (p.Val436Ile)
|
rs762346849
|
0.00002
|
NM_001161352.2(KCNMA1):c.1554G>T (p.Lys518Asn)
|
rs201996416
|
0.00002
|
NM_001161352.2(KCNMA1):c.1849A>G (p.Thr617Ala)
|
rs199572642
|
0.00002
|
NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp)
|
rs202188493
|
0.00002
|
NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser)
|
rs886043569
|
0.00002
|
NM_001161352.2(KCNMA1):c.2481C>G (p.Ile827Met)
|
rs760789370
|
0.00002
|
NM_001161352.2(KCNMA1):c.2770G>A (p.Val924Ile)
|
rs764912308
|
0.00002
|
NM_001161352.2(KCNMA1):c.365G>C (p.Gly122Ala)
|
rs199568153
|
0.00002
|
NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln)
|
rs200410171
|
0.00002
|
NM_001161352.2(KCNMA1):c.92C>G (p.Ala31Gly)
|
rs201551432
|
0.00002
|
NM_001242896.3(DEPDC5):c.1078A>G (p.Asn360Asp)
|
rs751948408
|
0.00002
|
NM_001242896.3(DEPDC5):c.1404G>T (p.Arg468Ser)
|
rs544863765
|
0.00002
|
NM_001242896.3(DEPDC5):c.1411G>A (p.Gly471Ser)
|
rs756780050
|
0.00002
|
NM_001242896.3(DEPDC5):c.1445+6C>T
|
rs1275802105
|
0.00002
|
NM_001242896.3(DEPDC5):c.1459C>G (p.Arg487Gly)
|
rs587777459
|
0.00002
|
NM_001242896.3(DEPDC5):c.1475G>A (p.Arg492Gln)
|
rs745893053
|
0.00002
|
NM_001242896.3(DEPDC5):c.1729G>A (p.Val577Ile)
|
rs573430885
|
0.00002
|
NM_001242896.3(DEPDC5):c.1775C>T (p.Thr592Met)
|
rs187222350
|
0.00002
|
NM_001242896.3(DEPDC5):c.1960T>C (p.Ser654Pro)
|
rs774477005
|
0.00002
|
NM_001242896.3(DEPDC5):c.2006+3G>A
|
rs752184633
|
0.00002
|
NM_001242896.3(DEPDC5):c.2519T>C (p.Leu840Pro)
|
rs746197380
|
0.00002
|
NM_001242896.3(DEPDC5):c.2699A>G (p.Glu900Gly)
|
rs755495732
|
0.00002
|
NM_001242896.3(DEPDC5):c.2995C>T (p.Arg999Trp)
|
rs375050296
|
0.00002
|
NM_001242896.3(DEPDC5):c.3068C>T (p.Thr1023Met)
|
rs780752142
|
0.00002
|
NM_001242896.3(DEPDC5):c.3247A>C (p.Met1083Leu)
|
rs768817912
|
0.00002
|
NM_001242896.3(DEPDC5):c.3269G>A (p.Gly1090Glu)
|
rs1217171263
|
0.00002
|
NM_001242896.3(DEPDC5):c.3823G>A (p.Ala1275Thr)
|
rs1453526282
|
0.00002
|
NM_001242896.3(DEPDC5):c.3827C>T (p.Thr1276Ile)
|
rs780045152
|
0.00002
|
NM_001242896.3(DEPDC5):c.3836A>G (p.His1279Arg)
|
rs201765981
|
0.00002
|
NM_001242896.3(DEPDC5):c.3956G>A (p.Arg1319Gln)
|
rs777643503
|
0.00002
|
NM_001242896.3(DEPDC5):c.483+4A>G
|
rs369403922
|
0.00002
|
NM_001242896.3(DEPDC5):c.504G>A (p.Ser168=)
|
rs577652236
|
0.00002
|
NM_001242896.3(DEPDC5):c.95A>G (p.His32Arg)
|
rs760541660
|
0.00002
|
NM_001271.4(CHD2):c.1681G>A (p.Val561Ile)
|
rs373363898
|
0.00002
|
NM_001271.4(CHD2):c.1769A>G (p.Asn590Ser)
|
rs373555806
|
0.00002
|
NM_001271.4(CHD2):c.184A>C (p.Ser62Arg)
|
rs199670886
|
0.00002
|
NM_001271.4(CHD2):c.4315A>G (p.Lys1439Glu)
|
rs368570245
|
0.00002
|
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met)
|
rs779953123
|
0.00002
|
NM_001271.4(CHD2):c.4580A>G (p.Lys1527Arg)
|
rs771195215
|
0.00002
|
NM_001271.4(CHD2):c.5017C>T (p.His1673Tyr)
|
rs190569275
|
0.00002
|
NM_001271.4(CHD2):c.5054G>A (p.Arg1685His)
|
rs749360780
|
0.00002
|
NM_001271.4(CHD2):c.5095C>T (p.Pro1699Ser)
|
rs777481677
|
0.00002
|
NM_001271.4(CHD2):c.5128C>T (p.Arg1710Trp)
|
rs1000152328
|
0.00002
|
NM_001271.4(CHD2):c.5232G>A (p.Met1744Ile)
|
rs761319790
|
0.00002
|
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser)
|
rs772907727
|
0.00002
|
NM_001271.4(CHD2):c.5341C>G (p.His1781Asp)
|
rs771637309
|
0.00002
|
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys)
|
rs540770153
|
0.00002
|
NM_001271.4(CHD2):c.569G>A (p.Arg190His)
|
rs776934265
|
0.00002
|
NM_001271.4(CHD2):c.595C>T (p.Arg199Cys)
|
rs764705223
|
0.00002
|
NM_001271.4(CHD2):c.683A>G (p.Lys228Arg)
|
rs764468460
|
0.00002
|
NM_003042.4(SLC6A1):c.769C>T (p.Arg257Cys)
|
rs752750805
|
0.00002
|
NM_004287.5(GOSR2):c.133T>C (p.Phe45Leu)
|
rs1060500714
|
0.00002
|
NM_004287.5(GOSR2):c.229G>A (p.Val77Ile)
|
rs1407806851
|
0.00002
|
NM_004287.5(GOSR2):c.268C>T (p.Arg90Trp)
|
rs201101417
|
0.00002
|
NM_004287.5(GOSR2):c.563A>G (p.Gln188Arg)
|
rs776748629
|
0.00002
|
NM_004287.5(GOSR2):c.579G>A (p.Met193Ile)
|
rs768377570
|
0.00002
|
NM_004287.5(GOSR2):c.68A>G (p.Glu23Gly)
|
rs200071814
|
0.00002
|
NM_004287.5(GOSR2):c.94+5G>A
|
rs754004382
|
0.00002
|
NM_004408.4(DNM1):c.293G>A (p.Arg98His)
|
rs748195071
|
0.00002
|
NM_004408.4(DNM1):c.774C>G (p.Phe258Leu)
|
rs146211149
|
0.00002
|
NM_005045.4(RELN):c.1405A>G (p.Thr469Ala)
|
rs182533022
|
0.00002
|
NM_005045.4(RELN):c.1937G>A (p.Arg646Gln)
|
rs377185504
|
0.00002
|
NM_005045.4(RELN):c.1948A>T (p.Ile650Phe)
|
rs371652596
|
0.00002
|
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys)
|
rs768119894
|
0.00002
|
NM_005045.4(RELN):c.2189G>A (p.Arg730His)
|
rs370858334
|
0.00002
|
NM_005045.4(RELN):c.226+4G>A
|
rs749125854
|
0.00002
|
NM_005045.4(RELN):c.2260C>T (p.Arg754Trp)
|
rs759711654
|
0.00002
|
NM_005045.4(RELN):c.2566A>G (p.Ile856Val)
|
rs371309082
|
0.00002
|
NM_005045.4(RELN):c.286A>G (p.Thr96Ala)
|
rs564088219
|
0.00002
|
NM_005045.4(RELN):c.4397C>T (p.Thr1466Ile)
|
rs188328812
|
0.00002
|
NM_005045.4(RELN):c.4649A>T (p.Asp1550Val)
|
rs781465325
|
0.00002
|
NM_005045.4(RELN):c.4654A>G (p.Met1552Val)
|
rs558308794
|
0.00002
|
NM_005045.4(RELN):c.4985C>T (p.Thr1662Ile)
|
rs750833122
|
0.00002
|
NM_005045.4(RELN):c.5005A>C (p.Ser1669Arg)
|
rs1481028795
|
0.00002
|
NM_005045.4(RELN):c.5249A>G (p.Tyr1750Cys)
|
rs1449221629
|
0.00002
|
NM_005045.4(RELN):c.5324G>A (p.Arg1775Gln)
|
rs748363492
|
0.00002
|
NM_005045.4(RELN):c.5350G>A (p.Val1784Met)
|
rs374736779
|
0.00002
|
NM_005045.4(RELN):c.5613A>G (p.Lys1871=)
|
rs368944281
|
0.00002
|
NM_005045.4(RELN):c.6072+3A>G
|
rs762092040
|
0.00002
|
NM_005045.4(RELN):c.6311G>A (p.Arg2104His)
|
rs750878959
|
0.00002
|
NM_005045.4(RELN):c.7531G>A (p.Glu2511Lys)
|
rs367906773
|
0.00002
|
NM_005045.4(RELN):c.7640C>T (p.Ala2547Val)
|
rs770539689
|
0.00002
|
NM_005045.4(RELN):c.7945G>A (p.Asp2649Asn)
|
rs551447146
|
0.00002
|
NM_005045.4(RELN):c.8003C>T (p.Thr2668Ile)
|
rs144249461
|
0.00002
|
NM_005045.4(RELN):c.821G>A (p.Arg274His)
|
rs143781910
|
0.00002
|
NM_005045.4(RELN):c.9076G>A (p.Val3026Met)
|
rs766037038
|
0.00002
|
NM_005045.4(RELN):c.9673G>A (p.Val3225Met)
|
rs755369509
|
0.00002
|
NM_005045.4(RELN):c.980A>G (p.Gln327Arg)
|
rs890609228
|
0.00002
|
NM_005045.4(RELN):c.9826G>A (p.Ala3276Thr)
|
rs781713047
|
0.00002
|
NM_005045.4(RELN):c.9977G>A (p.Arg3326Gln)
|
rs766223649
|
0.00002
|
NM_005097.4(LGI1):c.1075A>G (p.Ile359Val)
|
rs148263562
|
0.00002
|
NM_005097.4(LGI1):c.1220G>A (p.Arg407His)
|
rs201376381
|
0.00002
|
NM_005097.4(LGI1):c.1316C>T (p.Ser439Leu)
|
rs143808356
|
0.00002
|
NM_005097.4(LGI1):c.1598G>A (p.Arg533His)
|
rs543647504
|
0.00002
|
NM_005097.4(LGI1):c.398A>G (p.His133Arg)
|
rs376452111
|
0.00002
|
NM_005097.4(LGI1):c.626G>A (p.Arg209His)
|
rs370151711
|
0.00002
|
NM_005097.4(LGI1):c.829A>G (p.Asn277Asp)
|
rs571391768
|
0.00002
|
NM_005097.4(LGI1):c.983A>G (p.Lys328Arg)
|
rs778819952
|
0.00002
|
NM_005506.4(SCARB2):c.1105A>G (p.Ile369Val)
|
rs1311037416
|
0.00002
|
NM_005506.4(SCARB2):c.1235A>G (p.Asn412Ser)
|
rs771661901
|
0.00002
|
NM_005506.4(SCARB2):c.238A>C (p.Thr80Pro)
|
rs767397350
|
0.00002
|
NM_005506.4(SCARB2):c.515C>T (p.Thr172Ile)
|
rs557392749
|
0.00002
|
NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser)
|
rs199837910
|
0.00002
|
NM_005506.4(SCARB2):c.816C>G (p.Asp272Glu)
|
rs370666555
|
0.00002
|
NM_005506.4(SCARB2):c.825-3C>T
|
rs772593602
|
0.00002
|
NM_005670.4(EPM2A):c.352G>A (p.Val118Met)
|
rs903313803
|
0.00002
|
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr)
|
rs796052430
|
0.00002
|
NM_005670.4(EPM2A):c.487A>G (p.Asn163Asp)
|
rs777767978
|
0.00002
|
NM_005670.4(EPM2A):c.595G>T (p.Val199Leu)
|
rs367827948
|
0.00002
|
NM_005670.4(EPM2A):c.715G>A (p.Glu239Lys)
|
rs373652439
|
0.00002
|
NM_005670.4(EPM2A):c.802G>A (p.Ala268Thr)
|
rs748514820
|
0.00002
|
NM_005670.4(EPM2A):c.934C>T (p.Arg312Trp)
|
rs766334722
|
0.00002
|
NM_014467.3(SRPX2):c.1229G>A (p.Arg410His)
|
rs368571175
|
0.00002
|
NM_014467.3(SRPX2):c.1276A>G (p.Ile426Val)
|
rs756623285
|
0.00002
|
NM_014467.3(SRPX2):c.1289G>A (p.Arg430His)
|
rs183378773
|
0.00002
|
NM_014467.3(SRPX2):c.329G>A (p.Arg110His)
|
rs1176341753
|
0.00002
|
NM_014467.3(SRPX2):c.553C>T (p.Arg185Cys)
|
rs370080258
|
0.00002
|
NM_014467.3(SRPX2):c.554G>T (p.Arg185Leu)
|
rs768629864
|
0.00002
|
NM_014467.3(SRPX2):c.961+1G>A
|
rs1303998333
|
0.00002
|
NM_015973.5(GAL):c.205G>A (p.Glu69Lys)
|
rs571107777
|
0.00002
|
NM_015973.5(GAL):c.365G>A (p.Arg122Gln)
|
rs777842785
|
0.00002
|
NM_018100.4(EFHC1):c.1096C>T (p.Arg366Cys)
|
rs573582894
|
0.00002
|
NM_018100.4(EFHC1):c.1147C>T (p.Pro383Ser)
|
rs546262142
|
0.00002
|
NM_018100.4(EFHC1):c.1151A>G (p.Tyr384Cys)
|
rs777659552
|
0.00002
|
NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly)
|
rs756563341
|
0.00002
|
NM_018100.4(EFHC1):c.1309A>T (p.Arg437Ter)
|
rs776277918
|
0.00002
|
NM_018100.4(EFHC1):c.1310G>A (p.Arg437Lys)
|
rs761440315
|
0.00002
|
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys)
|
rs201261630
|
0.00002
|
NM_018100.4(EFHC1):c.16G>A (p.Val6Met)
|
rs772150303
|
0.00002
|
NM_018100.4(EFHC1):c.1814C>T (p.Ser605Leu)
|
rs373267174
|
0.00002
|
NM_018100.4(EFHC1):c.1888A>G (p.Asn630Asp)
|
rs747171841
|
0.00002
|
NM_018100.4(EFHC1):c.305A>G (p.Tyr102Cys)
|
rs368992606
|
0.00002
|
NM_018100.4(EFHC1):c.458G>A (p.Arg153Gln)
|
rs745600475
|
0.00002
|
NM_018100.4(EFHC1):c.569C>T (p.Thr190Ile)
|
rs1430629936
|
0.00002
|
NM_018100.4(EFHC1):c.674C>G (p.Thr225Ser)
|
rs267601073
|
0.00002
|
NM_018100.4(EFHC1):c.730C>T (p.Arg244Ter)
|
rs571448222
|
0.00002
|
NM_018100.4(EFHC1):c.76C>T (p.His26Tyr)
|
rs375322518
|
0.00002
|
NM_020822.3(KCNT1):c.1103C>T (p.Ala368Val)
|
rs928555901
|
0.00002
|
NM_020822.3(KCNT1):c.1192C>T (p.Arg398Trp)
|
rs779209462
|
0.00002
|
NM_020822.3(KCNT1):c.1328T>C (p.Met443Thr)
|
rs763557773
|
0.00002
|
NM_020822.3(KCNT1):c.1465G>A (p.Val489Ile)
|
rs368322298
|
0.00002
|
NM_020822.3(KCNT1):c.1663C>T (p.Arg555Cys)
|
rs774249834
|
0.00002
|
NM_020822.3(KCNT1):c.1717C>T (p.Arg573Cys)
|
rs557219607
|
0.00002
|
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln)
|
rs571757257
|
0.00002
|
NM_020822.3(KCNT1):c.1940C>T (p.Ala647Val)
|
rs550751778
|
0.00002
|
NM_020822.3(KCNT1):c.1955G>T (p.Gly652Val)
|
rs536588045
|
0.00002
|
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp)
|
rs750994724
|
0.00002
|
NM_020822.3(KCNT1):c.2071G>A (p.Gly691Arg)
|
rs769596439
|
0.00002
|
NM_020822.3(KCNT1):c.2199G>T (p.Glu733Asp)
|
rs772800657
|
0.00002
|
NM_020822.3(KCNT1):c.2213C>T (p.Pro738Leu)
|
rs760032575
|
0.00002
|
NM_020822.3(KCNT1):c.254+6G>C
|
rs923032212
|
0.00002
|
NM_020822.3(KCNT1):c.3158C>A (p.Pro1053His)
|
rs776239808
|
0.00002
|
NM_020822.3(KCNT1):c.3359C>T (p.Ala1120Val)
|
rs745484103
|
0.00002
|
NM_020822.3(KCNT1):c.3409C>T (p.Arg1137Cys)
|
rs779430817
|
0.00002
|
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys)
|
rs767450181
|
0.00002
|
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu)
|
rs1439404936
|
0.00002
|
NM_020822.3(KCNT1):c.3538G>A (p.Val1180Ile)
|
rs754383898
|
0.00002
|
NM_020822.3(KCNT1):c.3599G>A (p.Arg1200His)
|
rs780857518
|
0.00002
|
NM_020822.3(KCNT1):c.3688C>T (p.Arg1230Cys)
|
rs771068120
|
0.00002
|
NM_020822.3(KCNT1):c.491+3G>A
|
rs943935808
|
0.00002
|
NM_020822.3(KCNT1):c.712G>A (p.Val238Ile)
|
rs760870883
|
0.00002
|
NM_021267.5(CERS1):c.250C>A (p.Pro84Thr)
|
rs755371379
|
0.00002
|
NM_021267.5(CERS1):c.443T>C (p.Ile148Thr)
|
rs773594278
|
0.00002
|
NM_021267.5(CERS1):c.476A>G (p.Tyr159Cys)
|
rs764228779
|
0.00002
|
NM_021267.5(CERS1):c.572T>C (p.Val191Ala)
|
rs749102523
|
0.00002
|
NM_021267.5(CERS1):c.82G>A (p.Gly28Ser)
|
rs1370577039
|
0.00002
|
NM_021267.5(CERS1):c.901-3C>A
|
rs1464119106
|
0.00002
|
NM_021267.5(CERS1):c.962G>A (p.Arg321Gln)
|
rs745387497
|
0.00002
|
NM_032737.4(LMNB2):c.1007G>A (p.Arg336Gln)
|
rs772252986
|
0.00002
|
NM_032737.4(LMNB2):c.1082C>T (p.Thr361Met)
|
rs148473288
|
0.00002
|
NM_032737.4(LMNB2):c.1096G>A (p.Val366Met)
|
rs759720954
|
0.00002
|
NM_032737.4(LMNB2):c.1267G>A (p.Gly423Ser)
|
rs373722325
|
0.00002
|
NM_032737.4(LMNB2):c.1288C>T (p.Arg430Cys)
|
rs367908162
|
0.00002
|
NM_032737.4(LMNB2):c.335G>A (p.Arg112Gln)
|
rs367966814
|
0.00002
|
NM_032737.4(LMNB2):c.443G>A (p.Arg148His)
|
rs779429811
|
0.00002
|
NM_032737.4(LMNB2):c.499C>G (p.Leu167Val)
|
rs1599334955
|
0.00002
|
NM_032737.4(LMNB2):c.558+5G>A
|
rs747264492
|
0.00002
|
NM_032737.4(LMNB2):c.613C>T (p.Arg205Cys)
|
rs752321316
|
0.00002
|
NM_032737.4(LMNB2):c.712G>A (p.Glu238Lys)
|
rs773444127
|
0.00002
|
NM_032737.4(LMNB2):c.805G>A (p.Glu269Lys)
|
rs201457236
|
0.00002
|
NM_032737.4(LMNB2):c.910C>T (p.Arg304Cys)
|
rs140495297
|
0.00002
|
NM_032737.4(LMNB2):c.922A>G (p.Lys308Glu)
|
rs758385743
|
0.00002
|
NM_032737.4(LMNB2):c.932G>A (p.Arg311His)
|
rs1372849024
|
0.00002
|
NM_153026.3(PRICKLE1):c.1358C>A (p.Thr453Asn)
|
rs773422113
|
0.00002
|
NM_153026.3(PRICKLE1):c.1360G>A (p.Glu454Lys)
|
rs748454609
|
0.00002
|
NM_153026.3(PRICKLE1):c.1639+4C>T
|
rs746747159
|
0.00002
|
NM_153026.3(PRICKLE1):c.1779G>T (p.Glu593Asp)
|
rs890912439
|
0.00002
|
NM_153026.3(PRICKLE1):c.178G>A (p.Val60Ile)
|
rs1359965296
|
0.00002
|
NM_153026.3(PRICKLE1):c.1833G>C (p.Glu611Asp)
|
rs749854195
|
0.00002
|
NM_153026.3(PRICKLE1):c.1978G>A (p.Val660Ile)
|
rs143947284
|
0.00002
|
NM_153026.3(PRICKLE1):c.2104C>T (p.Arg702Trp)
|
rs751021008
|
0.00002
|
NM_153026.3(PRICKLE1):c.2126A>G (p.Tyr709Cys)
|
rs750226436
|
0.00002
|
NM_153026.3(PRICKLE1):c.2380T>C (p.Tyr794His)
|
rs201705679
|
0.00002
|
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val)
|
rs765119777
|
0.00002
|
NM_153026.3(PRICKLE1):c.626G>A (p.Arg209His)
|
rs758400992
|
0.00002
|
NM_153026.3(PRICKLE1):c.805G>A (p.Gly269Arg)
|
rs376845777
|
0.00002
|
NM_153026.3(PRICKLE1):c.992G>A (p.Arg331Gln)
|
rs778192552
|
0.00002
|
NM_153033.5(KCTD7):c.195C>T (p.Arg65=)
|
rs755849045
|
0.00002
|
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln)
|
rs200575329
|
0.00002
|
NM_153033.5(KCTD7):c.398C>T (p.Ala133Val)
|
rs372103637
|
0.00002
|
NM_153033.5(KCTD7):c.614C>T (p.Pro205Leu)
|
rs151338966
|
0.00002
|
NM_153033.5(KCTD7):c.749C>T (p.Thr250Met)
|
rs760837610
|
0.00002
|
NM_178013.4(PRIMA1):c.292G>A (p.Ala98Thr)
|
rs753046704
|
0.00002
|
NM_178013.4(PRIMA1):c.332T>C (p.Val111Ala)
|
rs145843133
|
0.00002
|
NM_178013.4(PRIMA1):c.419C>T (p.Ser140Leu)
|
rs769679879
|
0.00002
|
NM_178013.4(PRIMA1):c.431A>G (p.Lys144Arg)
|
rs748192131
|
0.00002
|
NM_198586.3(NHLRC1):c.1027A>G (p.Ile343Val)
|
rs750935925
|
0.00002
|
NM_198586.3(NHLRC1):c.103C>G (p.His35Asp)
|
rs752045674
|
0.00002
|
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly)
|
rs200201752
|
0.00002
|
NM_198586.3(NHLRC1):c.1174G>A (p.Val392Ile)
|
rs765576968
|
0.00002
|
NM_198586.3(NHLRC1):c.196C>T (p.Leu66Phe)
|
rs553900705
|
0.00002
|
NM_198586.3(NHLRC1):c.234C>G (p.Cys78Trp)
|
rs755232826
|
0.00002
|
NM_198586.3(NHLRC1):c.308C>T (p.Ala103Val)
|
rs774955028
|
0.00002
|
NM_198586.3(NHLRC1):c.481G>A (p.Ala161Thr)
|
rs201476733
|
0.00002
|
NM_198586.3(NHLRC1):c.643T>C (p.Phe215Leu)
|
rs753591736
|
0.00002
|
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe)
|
rs747276703
|
0.00002
|
NM_198904.4(GABRG2):c.353C>T (p.Ala118Val)
|
rs772800839
|
0.00002
|
NM_198904.4(GABRG2):c.691G>A (p.Asp231Asn)
|
rs773065895
|
0.00002
|
NM_000100.4(CSTB):c.155A>T (p.Asn52Ile)
|
rs541671661
|
0.00001
|
NM_000100.4(CSTB):c.160T>G (p.Phe54Val)
|
rs774291632
|
0.00001
|
NM_000100.4(CSTB):c.169G>T (p.Val57Leu)
|
rs796052394
|
0.00001
|
NM_000100.4(CSTB):c.16C>G (p.Pro6Ala)
|
rs1236504207
|
0.00001
|
NM_000100.4(CSTB):c.184G>A (p.Glu62Lys)
|
rs147307021
|
0.00001
|
NM_000100.4(CSTB):c.196C>T (p.His66Tyr)
|
rs748818442
|
0.00001
|
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs)
|
rs1044894207
|
0.00001
|
NM_000100.4(CSTB):c.268G>A (p.Ala90Thr)
|
rs761504637
|
0.00001
|
NM_000100.4(CSTB):c.269C>G (p.Ala90Gly)
|
rs138337167
|
0.00001
|
NM_000100.4(CSTB):c.274C>T (p.His92Tyr)
|
rs796052393
|
0.00001
|
NM_000100.4(CSTB):c.28C>G (p.Gln10Glu)
|
rs1399970116
|
0.00001
|
NM_000100.4(CSTB):c.290A>G (p.Tyr97Cys)
|
rs1186810947
|
0.00001
|
NM_000100.4(CSTB):c.85G>A (p.Glu29Lys)
|
rs1358304104
|
0.00001
|
NM_000742.4(CHRNA2):c.1007T>C (p.Met336Thr)
|
rs754567543
|
0.00001
|
NM_000742.4(CHRNA2):c.100C>G (p.Pro34Ala)
|
rs538453326
|
0.00001
|
NM_000742.4(CHRNA2):c.1015G>A (p.Val339Ile)
|
rs1064797343
|
0.00001
|
NM_000742.4(CHRNA2):c.1021C>G (p.Leu341Val)
|
rs750301958
|
0.00001
|
NM_000742.4(CHRNA2):c.1030G>A (p.Val344Ile)
|
rs567044128
|
0.00001
|
NM_000742.4(CHRNA2):c.106G>T (p.Ala36Ser)
|
rs771977388
|
0.00001
|
NM_000742.4(CHRNA2):c.1076C>T (p.Thr359Ile)
|
rs888935641
|
0.00001
|
NM_000742.4(CHRNA2):c.107C>T (p.Ala36Val)
|
rs1313467019
|
0.00001
|
NM_000742.4(CHRNA2):c.1095G>A (p.Trp365Ter)
|
rs753568467
|
0.00001
|
NM_000742.4(CHRNA2):c.1103G>T (p.Gly368Val)
|
rs765772636
|
0.00001
|
NM_000742.4(CHRNA2):c.1151C>T (p.Pro384Leu)
|
rs777510962
|
0.00001
|
NM_000742.4(CHRNA2):c.1181G>A (p.Arg394His)
|
rs761054762
|
0.00001
|
NM_000742.4(CHRNA2):c.119C>T (p.Pro40Leu)
|
rs745670660
|
0.00001
|
NM_000742.4(CHRNA2):c.1218C>G (p.Ser406Arg)
|
rs749199596
|
0.00001
|
NM_000742.4(CHRNA2):c.1231G>T (p.Glu411Ter)
|
rs1328911807
|
0.00001
|
NM_000742.4(CHRNA2):c.1283A>C (p.His428Pro)
|
rs1464665549
|
0.00001
|
NM_000742.4(CHRNA2):c.1331C>G (p.Ser444Cys)
|
rs772465304
|
0.00001
|
NM_000742.4(CHRNA2):c.1372G>A (p.Gly458Ser)
|
rs757019076
|
0.00001
|
NM_000742.4(CHRNA2):c.1373G>C (p.Gly458Ala)
|
rs751242542
|
0.00001
|
NM_000742.4(CHRNA2):c.1441C>T (p.Arg481Trp)
|
rs369803320
|
0.00001
|
NM_000742.4(CHRNA2):c.1463C>T (p.Ser488Leu)
|
rs866092045
|
0.00001
|
NM_000742.4(CHRNA2):c.1468A>G (p.Lys490Glu)
|
rs773515773
|
0.00001
|
NM_000742.4(CHRNA2):c.1481A>G (p.Lys494Arg)
|
rs762003141
|
0.00001
|
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg)
|
rs1012797739
|
0.00001
|
NM_000742.4(CHRNA2):c.169G>A (p.Glu57Lys)
|
rs139552324
|
0.00001
|
NM_000742.4(CHRNA2):c.214C>T (p.Arg72Cys)
|
rs201890355
|
0.00001
|
NM_000742.4(CHRNA2):c.322A>G (p.Asn108Asp)
|
rs913563840
|
0.00001
|
NM_000742.4(CHRNA2):c.362G>T (p.Arg121Leu)
|
rs752422797
|
0.00001
|
NM_000742.4(CHRNA2):c.385A>G (p.Asn129Asp)
|
rs1418872943
|
0.00001
|
NM_000742.4(CHRNA2):c.402G>C (p.Arg134Ser)
|
rs773956983
|
0.00001
|
NM_000742.4(CHRNA2):c.431A>G (p.Asp144Gly)
|
rs748032811
|
0.00001
|
NM_000742.4(CHRNA2):c.443A>G (p.Tyr148Cys)
|
rs758688566
|
0.00001
|
NM_000742.4(CHRNA2):c.449+3A>T
|
rs750588205
|
0.00001
|
NM_000742.4(CHRNA2):c.503C>T (p.Thr168Met)
|
rs766076722
|
0.00001
|
NM_000742.4(CHRNA2):c.577G>A (p.Asp193Asn)
|
rs373358886
|
0.00001
|
NM_000742.4(CHRNA2):c.593A>T (p.Lys198Met)
|
rs1488678087
|
0.00001
|
NM_000742.4(CHRNA2):c.595A>G (p.Met199Val)
|
rs1064793314
|
0.00001
|
NM_000742.4(CHRNA2):c.670G>A (p.Asp224Asn)
|
rs781326114
|
0.00001
|
NM_000742.4(CHRNA2):c.700G>A (p.Val234Ile)
|
rs758793756
|
0.00001
|
NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly)
|
rs544814869
|
0.00001
|
NM_000742.4(CHRNA2):c.729G>C (p.Lys243Asn)
|
rs763633128
|
0.00001
|
NM_000742.4(CHRNA2):c.752T>C (p.Ile251Thr)
|
rs1255648133
|
0.00001
|
NM_000742.4(CHRNA2):c.767C>A (p.Thr256Asn)
|
rs1586390822
|
0.00001
|
NM_000742.4(CHRNA2):c.787C>T (p.Arg263Trp)
|
rs376807512
|
0.00001
|
NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met)
|
rs892421066
|
0.00001
|
NM_000742.4(CHRNA2):c.835A>G (p.Ile279Val)
|
rs1812595253
|
0.00001
|
NM_000742.4(CHRNA2):c.91C>T (p.Arg31Cys)
|
rs764887214
|
0.00001
|
NM_000742.4(CHRNA2):c.925G>A (p.Val309Ile)
|
rs755014350
|
0.00001
|
NM_000742.4(CHRNA2):c.965C>T (p.Ser322Leu)
|
rs775592017
|
0.00001
|
NM_000742.4(CHRNA2):c.985G>A (p.Gly329Ser)
|
rs56371471
|
0.00001
|
NM_000744.7(CHRNA4):c.1001C>T (p.Ser334Leu)
|
rs121912262
|
0.00001
|
NM_000744.7(CHRNA4):c.1034G>T (p.Arg345Leu)
|
rs200666489
|
0.00001
|
NM_000744.7(CHRNA4):c.1057C>A (p.Pro353Thr)
|
rs201052218
|
0.00001
|
NM_000744.7(CHRNA4):c.1060C>T (p.Arg354Cys)
|
rs758534439
|
0.00001
|
NM_000744.7(CHRNA4):c.1077G>C (p.Lys359Asn)
|
rs1292158071
|
0.00001
|
NM_000744.7(CHRNA4):c.1105C>T (p.Arg369Trp)
|
rs201224423
|
0.00001
|
NM_000744.7(CHRNA4):c.1117G>A (p.Glu373Lys)
|
rs1064794565
|
0.00001
|
NM_000744.7(CHRNA4):c.1184C>T (p.Thr395Met)
|
rs121912269
|
0.00001
|
NM_000744.7(CHRNA4):c.1208C>T (p.Pro403Leu)
|
rs766143571
|
0.00001
|
NM_000744.7(CHRNA4):c.1249G>A (p.Glu417Lys)
|
rs369269532
|
0.00001
|
NM_000744.7(CHRNA4):c.1252C>T (p.Pro418Ser)
|
rs1412148347
|
0.00001
|
NM_000744.7(CHRNA4):c.1265G>A (p.Cys422Tyr)
|
rs121912273
|
0.00001
|
NM_000744.7(CHRNA4):c.1277C>T (p.Ser426Phe)
|
rs1064794408
|
0.00001
|
NM_000744.7(CHRNA4):c.1319C>T (p.Ala440Val)
|
rs374914461
|
0.00001
|
NM_000744.7(CHRNA4):c.1354C>T (p.Pro452Ser)
|
rs199914663
|
0.00001
|
NM_000744.7(CHRNA4):c.135C>G (p.Phe45Leu)
|
rs766240756
|
0.00001
|
NM_000744.7(CHRNA4):c.1369G>C (p.Ala457Pro)
|
rs753598324
|
0.00001
|
NM_000744.7(CHRNA4):c.1378C>G (p.Leu460Val)
|
rs1347805541
|
0.00001
|
NM_000744.7(CHRNA4):c.1432G>T (p.Val478Leu)
|
rs757163324
|
0.00001
|
NM_000744.7(CHRNA4):c.1447C>T (p.Arg483Trp)
|
rs998924085
|
0.00001
|
NM_000744.7(CHRNA4):c.1498C>T (p.Pro500Ser)
|
rs770800835
|
0.00001
|
NM_000744.7(CHRNA4):c.1526C>T (p.Ala509Val)
|
rs1256537631
|
0.00001
|
NM_000744.7(CHRNA4):c.1532C>T (p.Ala511Val)
|
rs368476334
|
0.00001
|
NM_000744.7(CHRNA4):c.158G>A (p.Arg53Gln)
|
rs1286318558
|
0.00001
|
NM_000744.7(CHRNA4):c.163G>A (p.Val55Met)
|
rs1349610263
|
0.00001
|
NM_000744.7(CHRNA4):c.1652C>T (p.Thr551Ile)
|
rs79438238
|
0.00001
|
NM_000744.7(CHRNA4):c.1670A>C (p.His557Pro)
|
rs1282336623
|
0.00001
|
NM_000744.7(CHRNA4):c.1696C>T (p.Arg566Trp)
|
rs201674914
|
0.00001
|
NM_000744.7(CHRNA4):c.1720A>G (p.Ile574Val)
|
rs748328796
|
0.00001
|
NM_000744.7(CHRNA4):c.176C>T (p.Ser59Leu)
|
rs775143571
|
0.00001
|
NM_000744.7(CHRNA4):c.1780G>A (p.Val594Met)
|
rs370887602
|
0.00001
|
NM_000744.7(CHRNA4):c.1786A>G (p.Met596Val)
|
rs200698041
|
0.00001
|
NM_000744.7(CHRNA4):c.1799G>A (p.Arg600His)
|
rs752686095
|
0.00001
|
NM_000744.7(CHRNA4):c.1859C>T (p.Pro620Leu)
|
rs754340834
|
0.00001
|
NM_000744.7(CHRNA4):c.190G>A (p.Val64Ile)
|
rs756367182
|
0.00001
|
NM_000744.7(CHRNA4):c.212C>T (p.Ala71Val)
|
rs753677594
|
0.00001
|
NM_000744.7(CHRNA4):c.226G>A (p.Val76Met)
|
rs201115841
|
0.00001
|
NM_000744.7(CHRNA4):c.228+6T>C
|
rs367917715
|
0.00001
|
NM_000744.7(CHRNA4):c.229G>A (p.Asp77Asn)
|
rs1204737071
|
0.00001
|
NM_000744.7(CHRNA4):c.274-1G>A
|
rs1331861720
|
0.00001
|
NM_000744.7(CHRNA4):c.326C>T (p.Thr109Ile)
|
rs768527293
|
0.00001
|
NM_000744.7(CHRNA4):c.367A>G (p.Ile123Val)
|
rs1360629320
|
0.00001
|
NM_000744.7(CHRNA4):c.383+1G>A
|
rs139129197
|
0.00001
|
NM_000744.7(CHRNA4):c.400G>A (p.Ala134Thr)
|
rs796052321
|
0.00001
|
NM_000744.7(CHRNA4):c.425A>G (p.His142Arg)
|
rs200550248
|
0.00001
|
NM_000744.7(CHRNA4):c.493G>A (p.Val165Ile)
|
rs762764855
|
0.00001
|
NM_000744.7(CHRNA4):c.663G>C (p.Arg221Ser)
|
rs1174421657
|
0.00001
|
NM_000744.7(CHRNA4):c.673T>G (p.Cys225Gly)
|
rs1263987235
|
0.00001
|
NM_000744.7(CHRNA4):c.687C>G (p.Ile229Met)
|
rs200063611
|
0.00001
|
NM_000744.7(CHRNA4):c.697A>G (p.Ile233Val)
|
rs1362651443
|
0.00001
|
NM_000744.7(CHRNA4):c.718C>T (p.Arg240Trp)
|
rs757030850
|
0.00001
|
NM_000744.7(CHRNA4):c.758C>T (p.Pro253Leu)
|
rs747083728
|
0.00001
|
NM_000744.7(CHRNA4):c.778C>A (p.Leu260Ile)
|
rs770780958
|
0.00001
|
NM_000744.7(CHRNA4):c.827C>T (p.Thr276Met)
|
rs796052323
|
0.00001
|
NM_000744.7(CHRNA4):c.859G>A (p.Val287Ile)
|
rs772253190
|
0.00001
|
NM_000744.7(CHRNA4):c.940A>G (p.Met314Val)
|
rs773225799
|
0.00001
|
NM_000744.7(CHRNA4):c.967A>G (p.Ile323Val)
|
rs200985465
|
0.00001
|
NM_000744.7(CHRNA4):c.985A>G (p.Asn329Asp)
|
rs767865433
|
0.00001
|
NM_000744.7(CHRNA4):c.986A>G (p.Asn329Ser)
|
rs201046441
|
0.00001
|
NM_000744.7(CHRNA4):c.988G>A (p.Val330Met)
|
rs951238893
|
0.00001
|
NM_000744.7(CHRNA4):c.997C>T (p.Arg333Cys)
|
rs761631713
|
0.00001
|
NM_000744.7(CHRNA4):c.998G>A (p.Arg333His)
|
rs1170843579
|
0.00001
|
NM_000748.3(CHRNB2):c.1040T>A (p.Leu347His)
|
rs368787419
|
0.00001
|
NM_000748.3(CHRNB2):c.1058G>A (p.Arg353His)
|
rs200924076
|
0.00001
|
NM_000748.3(CHRNB2):c.1082T>C (p.Leu361Pro)
|
rs1226774233
|
0.00001
|
NM_000748.3(CHRNB2):c.1115G>A (p.Gly372Asp)
|
rs757023317
|
0.00001
|
NM_000748.3(CHRNB2):c.1126C>T (p.Leu376Phe)
|
rs1286192889
|
0.00001
|
NM_000748.3(CHRNB2):c.1136G>C (p.Arg379Pro)
|
rs1440128191
|
0.00001
|
NM_000748.3(CHRNB2):c.1153G>A (p.Asp385Asn)
|
rs932622161
|
0.00001
|
NM_000748.3(CHRNB2):c.1161C>A (p.Cys387Ter)
|
rs1409415937
|
0.00001
|
NM_000748.3(CHRNB2):c.1199C>A (p.Ala400Asp)
|
rs1020953003
|
0.00001
|
NM_000748.3(CHRNB2):c.1201G>A (p.Gly401Arg)
|
rs902984484
|
0.00001
|
NM_000748.3(CHRNB2):c.1204G>A (p.Ala402Thr)
|
rs199658508
|
0.00001
|
NM_000748.3(CHRNB2):c.1207T>G (p.Phe403Val)
|
rs1166872057
|
0.00001
|
NM_000748.3(CHRNB2):c.1231G>C (p.Ala411Pro)
|
rs1225745274
|
0.00001
|
NM_000748.3(CHRNB2):c.1250G>A (p.Gly417Glu)
|
rs1191094208
|
0.00001
|
NM_000748.3(CHRNB2):c.1253A>G (p.Glu418Gly)
|
rs1475853887
|
0.00001
|
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu)
|
rs1064796396
|
0.00001
|
NM_000748.3(CHRNB2):c.1295G>C (p.Arg432Pro)
|
rs747248135
|
0.00001
|
NM_000748.3(CHRNB2):c.1312A>G (p.Met438Val)
|
rs916448473
|
0.00001
|
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn)
|
rs1187024375
|
0.00001
|
NM_000748.3(CHRNB2):c.1320C>A (p.Ser440Arg)
|
rs1049048240
|
0.00001
|
NM_000748.3(CHRNB2):c.1338+3G>T
|
rs886348487
|
0.00001
|
NM_000748.3(CHRNB2):c.1338C>T (p.Ser446=)
|
rs201462348
|
0.00001
|
NM_000748.3(CHRNB2):c.1360G>A (p.Val454Ile)
|
rs765202298
|
0.00001
|
NM_000748.3(CHRNB2):c.1375G>A (p.Asp459Asn)
|
rs140505576
|
0.00001
|
NM_000748.3(CHRNB2):c.1415T>C (p.Phe472Ser)
|
rs200855905
|
0.00001
|
NM_000748.3(CHRNB2):c.1423A>C (p.Ile475Leu)
|
rs202135710
|
0.00001
|
NM_000748.3(CHRNB2):c.1459A>G (p.Thr487Ala)
|
rs1420884732
|
0.00001
|
NM_000748.3(CHRNB2):c.149C>T (p.Thr50Ile)
|
rs762363770
|
0.00001
|
NM_000748.3(CHRNB2):c.170C>T (p.Thr57Ile)
|
rs1483069937
|
0.00001
|
NM_000748.3(CHRNB2):c.217C>T (p.Arg73Trp)
|
rs771286419
|
0.00001
|
NM_000748.3(CHRNB2):c.22G>T (p.Val8Leu)
|
rs772815972
|
0.00001
|
NM_000748.3(CHRNB2):c.255+6C>T
|
rs754415116
|
0.00001
|
NM_000748.3(CHRNB2):c.271C>T (p.Arg91Cys)
|
rs754725293
|
0.00001
|
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser)
|
rs752355994
|
0.00001
|
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln)
|
rs779199533
|
0.00001
|
NM_000748.3(CHRNB2):c.366-3C>T
|
rs1382302930
|
0.00001
|
NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser)
|
rs922186544
|
0.00001
|
NM_000748.3(CHRNB2):c.406G>A (p.Val136Met)
|
rs763776515
|
0.00001
|
NM_000748.3(CHRNB2):c.515A>G (p.Lys172Arg)
|
rs1330894666
|
0.00001
|
NM_000748.3(CHRNB2):c.539G>A (p.Arg180His)
|
rs768297928
|
0.00001
|
NM_000748.3(CHRNB2):c.546G>T (p.Glu182Asp)
|
rs199696100
|
0.00001
|
NM_000748.3(CHRNB2):c.604G>A (p.Glu202Lys)
|
rs1260932072
|
0.00001
|
NM_000748.3(CHRNB2):c.620C>T (p.Ala207Val)
|
rs201622476
|
0.00001
|
NM_000748.3(CHRNB2):c.634C>T (p.Arg212Cys)
|
rs572595325
|
0.00001
|
NM_000748.3(CHRNB2):c.646C>T (p.Pro216Ser)
|
rs200796605
|
0.00001
|
NM_000748.3(CHRNB2):c.658A>C (p.Thr220Pro)
|
rs374183227
|
0.00001
|
NM_000748.3(CHRNB2):c.659C>T (p.Thr220Met)
|
rs796052326
|
0.00001
|
NM_000748.3(CHRNB2):c.691C>T (p.Arg231Cys)
|
rs752986234
|
0.00001
|
NM_000748.3(CHRNB2):c.694C>T (p.Arg232Cys)
|
rs756406057
|
0.00001
|
NM_000748.3(CHRNB2):c.788G>A (p.Gly263Asp)
|
rs373676452
|
0.00001
|
NM_000748.3(CHRNB2):c.794A>T (p.Lys265Met)
|
rs1696166155
|
0.00001
|
NM_000748.3(CHRNB2):c.797T>C (p.Met266Thr)
|
rs113672425
|
0.00001
|
NM_000748.3(CHRNB2):c.88G>A (p.Glu30Lys)
|
rs199919525
|
0.00001
|
NM_000748.3(CHRNB2):c.892G>A (p.Gly298Ser)
|
rs754992449
|
0.00001
|
NM_000748.3(CHRNB2):c.910A>G (p.Thr304Ala)
|
rs780962241
|
0.00001
|
NM_000748.3(CHRNB2):c.92G>A (p.Arg31Gln)
|
rs758492974
|
0.00001
|
NM_000748.3(CHRNB2):c.968A>G (p.His323Arg)
|
rs201004255
|
0.00001
|
NM_001077350.3(NPRL3):c.1032G>A (p.Leu344=)
|
rs745938544
|
0.00001
|
NM_001077350.3(NPRL3):c.1039C>T (p.Pro347Ser)
|
rs765599501
|
0.00001
|
NM_001077350.3(NPRL3):c.1073C>T (p.Ser358Phe)
|
rs1039004556
|
0.00001
|
NM_001077350.3(NPRL3):c.1090G>A (p.Val364Ile)
|
rs769246932
|
0.00001
|
NM_001077350.3(NPRL3):c.1100A>G (p.Lys367Arg)
|
rs776081581
|
0.00001
|
NM_001077350.3(NPRL3):c.1112C>T (p.Pro371Leu)
|
rs747324879
|
0.00001
|
NM_001077350.3(NPRL3):c.1150G>A (p.Ala384Thr)
|
rs751307143
|
0.00001
|
NM_001077350.3(NPRL3):c.1165C>A (p.Gln389Lys)
|
rs1331117963
|
0.00001
|
NM_001077350.3(NPRL3):c.117A>G (p.Thr39=)
|
rs764156867
|
0.00001
|
NM_001077350.3(NPRL3):c.118A>G (p.Ser40Gly)
|
rs1901205892
|
0.00001
|
NM_001077350.3(NPRL3):c.1198C>T (p.Arg400Cys)
|
rs556683821
|
0.00001
|
NM_001077350.3(NPRL3):c.1201C>T (p.Arg401Trp)
|
rs375530015
|
0.00001
|
NM_001077350.3(NPRL3):c.1204C>T (p.Leu402Phe)
|
rs899497821
|
0.00001
|
NM_001077350.3(NPRL3):c.1215G>C (p.Gln405His)
|
rs1426917813
|
0.00001
|
NM_001077350.3(NPRL3):c.1243T>C (p.Ser415Pro)
|
rs546525405
|
0.00001
|
NM_001077350.3(NPRL3):c.1247C>T (p.Pro416Leu)
|
rs746082270
|
0.00001
|
NM_001077350.3(NPRL3):c.1279G>A (p.Asp427Asn)
|
rs769778379
|
0.00001
|
NM_001077350.3(NPRL3):c.1313G>A (p.Ser438Asn)
|
rs529009740
|
0.00001
|
NM_001077350.3(NPRL3):c.1315C>T (p.Leu439Phe)
|
rs763320453
|
0.00001
|
NM_001077350.3(NPRL3):c.1324C>T (p.Pro442Ser)
|
rs868572770
|
0.00001
|
NM_001077350.3(NPRL3):c.1348C>T (p.Pro450Ser)
|
rs941137627
|
0.00001
|
NM_001077350.3(NPRL3):c.139G>A (p.Ala47Thr)
|
rs1401901852
|
0.00001
|
NM_001077350.3(NPRL3):c.1427C>T (p.Ser476Leu)
|
rs750482582
|
0.00001
|
NM_001077350.3(NPRL3):c.1443G>T (p.Arg481Ser)
|
rs1898620865
|
0.00001
|
NM_001077350.3(NPRL3):c.1483C>T (p.Arg495Cys)
|
rs756589112
|
0.00001
|
NM_001077350.3(NPRL3):c.1507G>A (p.Ala503Thr)
|
rs372717858
|
0.00001
|
NM_001077350.3(NPRL3):c.152C>T (p.Thr51Met)
|
rs777208794
|
0.00001
|
NM_001077350.3(NPRL3):c.1532G>A (p.Arg511His)
|
rs375305549
|
0.00001
|
NM_001077350.3(NPRL3):c.1534A>G (p.Met512Val)
|
rs768263296
|
0.00001
|
NM_001077350.3(NPRL3):c.1561C>T (p.Arg521Cys)
|
rs1305476231
|
0.00001
|
NM_001077350.3(NPRL3):c.1564G>A (p.Gly522Ser)
|
rs752985390
|
0.00001
|
NM_001077350.3(NPRL3):c.1595A>G (p.Asn532Ser)
|
rs371517875
|
0.00001
|
NM_001077350.3(NPRL3):c.164C>G (p.Ala55Gly)
|
rs1217583836
|
0.00001
|
NM_001077350.3(NPRL3):c.1669G>A (p.Glu557Lys)
|
rs764005661
|
0.00001
|
NM_001077350.3(NPRL3):c.1687G>A (p.Val563Ile)
|
rs764756422
|
0.00001
|
NM_001077350.3(NPRL3):c.17G>A (p.Ser6Asn)
|
rs1901212695
|
0.00001
|
NM_001077350.3(NPRL3):c.20C>T (p.Pro7Leu)
|
rs770799124
|
0.00001
|
NM_001077350.3(NPRL3):c.217T>G (p.Leu73Val)
|
rs1900182866
|
0.00001
|
NM_001077350.3(NPRL3):c.341C>T (p.Pro114Leu)
|
rs979345384
|
0.00001
|
NM_001077350.3(NPRL3):c.400G>A (p.Ala134Thr)
|
rs779581743
|
0.00001
|
NM_001077350.3(NPRL3):c.407C>T (p.Pro136Leu)
|
rs547462000
|
0.00001
|
NM_001077350.3(NPRL3):c.454G>A (p.Val152Met)
|
rs539649449
|
0.00001
|
NM_001077350.3(NPRL3):c.473G>A (p.Arg158His)
|
rs1215682749
|
0.00001
|
NM_001077350.3(NPRL3):c.475C>T (p.Arg159Cys)
|
rs769300436
|
0.00001
|
NM_001077350.3(NPRL3):c.476G>A (p.Arg159His)
|
rs370299128
|
0.00001
|
NM_001077350.3(NPRL3):c.535G>A (p.Ala179Thr)
|
rs755120736
|
0.00001
|
NM_001077350.3(NPRL3):c.638C>T (p.Thr213Met)
|
rs776199294
|
0.00001
|
NM_001077350.3(NPRL3):c.713C>T (p.Ala238Val)
|
rs761366554
|
0.00001
|
NM_001077350.3(NPRL3):c.722G>C (p.Ser241Thr)
|
rs1899228613
|
0.00001
|
NM_001077350.3(NPRL3):c.734C>A (p.Pro245Gln)
|
rs763479734
|
0.00001
|
NM_001077350.3(NPRL3):c.748C>T (p.Arg250Trp)
|
rs577935445
|
0.00001
|
NM_001077350.3(NPRL3):c.752G>A (p.Ser251Asn)
|
rs916257624
|
0.00001
|
NM_001077350.3(NPRL3):c.811C>G (p.Leu271Val)
|
rs984688777
|
0.00001
|
NM_001077350.3(NPRL3):c.826A>G (p.Ile276Val)
|
rs764890667
|
0.00001
|
NM_001077350.3(NPRL3):c.85C>A (p.Gln29Lys)
|
rs1021394339
|
0.00001
|
NM_001099403.2(PRDM8):c.1024C>A (p.Pro342Thr)
|
rs552217106
|
0.00001
|
NM_001099403.2(PRDM8):c.1055C>A (p.Pro352Gln)
|
rs1332727339
|
0.00001
|
NM_001099403.2(PRDM8):c.1087G>C (p.Gly363Arg)
|
rs1220553796
|
0.00001
|
NM_001099403.2(PRDM8):c.1135G>A (p.Gly379Ser)
|
rs1738596858
|
0.00001
|
NM_001099403.2(PRDM8):c.1147C>T (p.Arg383Cys)
|
rs775117967
|
0.00001
|
NM_001099403.2(PRDM8):c.1164G>C (p.Glu388Asp)
|
rs1402048793
|
0.00001
|
NM_001099403.2(PRDM8):c.1175C>G (p.Ala392Gly)
|
rs1320384072
|
0.00001
|
NM_001099403.2(PRDM8):c.118A>G (p.Ile40Val)
|
rs772463473
|
0.00001
|
NM_001099403.2(PRDM8):c.1246G>A (p.Ala416Thr)
|
rs568061115
|
0.00001
|
NM_001099403.2(PRDM8):c.127C>T (p.Pro43Ser)
|
rs765881338
|
0.00001
|
NM_001099403.2(PRDM8):c.1283C>T (p.Ala428Val)
|
rs1185570106
|
0.00001
|
NM_001099403.2(PRDM8):c.1324G>A (p.Gly442Arg)
|
rs1393840872
|
0.00001
|
NM_001099403.2(PRDM8):c.1357A>G (p.Ser453Gly)
|
rs907653529
|
0.00001
|
NM_001099403.2(PRDM8):c.1400G>A (p.Gly467Asp)
|
rs1185771802
|
0.00001
|
NM_001099403.2(PRDM8):c.1405G>A (p.Ala469Thr)
|
rs1738641895
|
0.00001
|
NM_001099403.2(PRDM8):c.1426G>A (p.Gly476Ser)
|
rs1157815573
|
0.00001
|
NM_001099403.2(PRDM8):c.1453G>T (p.Gly485Cys)
|
rs1024569997
|
0.00001
|
NM_001099403.2(PRDM8):c.1465G>A (p.Gly489Ser)
|
rs1310667127
|
0.00001
|
NM_001099403.2(PRDM8):c.1553A>G (p.Gln518Arg)
|
rs1319969823
|
0.00001
|
NM_001099403.2(PRDM8):c.1585G>T (p.Ala529Ser)
|
rs1254406151
|
0.00001
|
NM_001099403.2(PRDM8):c.1590C>G (p.Asp530Glu)
|
rs763088636
|
0.00001
|
NM_001099403.2(PRDM8):c.1624G>T (p.Ala542Ser)
|
rs866553864
|
0.00001
|
NM_001099403.2(PRDM8):c.1637C>T (p.Ala546Val)
|
rs781679159
|
0.00001
|
NM_001099403.2(PRDM8):c.1643A>G (p.Lys548Arg)
|
rs1320311514
|
0.00001
|
NM_001099403.2(PRDM8):c.164T>A (p.Ile55Lys)
|
rs762557383
|
0.00001
|
NM_001099403.2(PRDM8):c.1650G>C (p.Gln550His)
|
rs776091682
|
0.00001
|
NM_001099403.2(PRDM8):c.1795G>A (p.Gly599Arg)
|
rs1222858653
|
0.00001
|
NM_001099403.2(PRDM8):c.1807C>A (p.Leu603Met)
|
rs1045840735
|
0.00001
|
NM_001099403.2(PRDM8):c.1832T>C (p.Leu611Pro)
|
rs1317721429
|
0.00001
|
NM_001099403.2(PRDM8):c.1892A>G (p.Asn631Ser)
|
rs763030062
|
0.00001
|
NM_001099403.2(PRDM8):c.1955A>G (p.Tyr652Cys)
|
rs758969495
|
0.00001
|
NM_001099403.2(PRDM8):c.1966C>T (p.Pro656Ser)
|
rs200471159
|
0.00001
|
NM_001099403.2(PRDM8):c.209A>G (p.Tyr70Cys)
|
rs1272386839
|
0.00001
|
NM_001099403.2(PRDM8):c.232G>A (p.Ala78Thr)
|
rs974078652
|
0.00001
|
NM_001099403.2(PRDM8):c.260T>C (p.Met87Thr)
|
rs1214957885
|
0.00001
|
NM_001099403.2(PRDM8):c.296A>G (p.Glu99Gly)
|
rs943924560
|
0.00001
|
NM_001099403.2(PRDM8):c.404C>T (p.Thr135Ile)
|
rs746198786
|
0.00001
|
NM_001099403.2(PRDM8):c.40G>A (p.Asp14Asn)
|
rs1274150288
|
0.00001
|
NM_001099403.2(PRDM8):c.428C>T (p.Ser143Phe)
|
rs1319426778
|
0.00001
|
NM_001099403.2(PRDM8):c.488G>A (p.Arg163His)
|
rs1191039908
|
0.00001
|
NM_001099403.2(PRDM8):c.514G>A (p.Ala172Thr)
|
rs762974864
|
0.00001
|
NM_001099403.2(PRDM8):c.543A>T (p.Arg181Ser)
|
rs377755509
|
0.00001
|
NM_001099403.2(PRDM8):c.636G>C (p.Gln212His)
|
rs767033532
|
0.00001
|
NM_001099403.2(PRDM8):c.689C>G (p.Ala230Gly)
|
rs1022510998
|
0.00001
|
NM_001099403.2(PRDM8):c.68C>A (p.Thr23Lys)
|
rs752328279
|
0.00001
|
NM_001099403.2(PRDM8):c.742G>A (p.Ala248Thr)
|
rs750455114
|
0.00001
|
NM_001099403.2(PRDM8):c.814C>T (p.Arg272Trp)
|
rs202018297
|
0.00001
|
NM_001099403.2(PRDM8):c.838G>A (p.Ala280Thr)
|
rs1738548476
|
0.00001
|
NM_001099403.2(PRDM8):c.845G>C (p.Ser282Thr)
|
rs1296298879
|
0.00001
|
NM_001099403.2(PRDM8):c.847C>A (p.Leu283Ile)
|
rs1211529205
|
0.00001
|
NM_001099403.2(PRDM8):c.861C>G (p.Ser287Arg)
|
rs768031665
|
0.00001
|
NM_001099403.2(PRDM8):c.862G>A (p.Gly288Ser)
|
rs930461579
|
0.00001
|
NM_001099403.2(PRDM8):c.868G>A (p.Gly290Ser)
|
rs756736858
|
0.00001
|
NM_001099403.2(PRDM8):c.919A>G (p.Thr307Ala)
|
rs1487456427
|
0.00001
|
NM_001099403.2(PRDM8):c.935G>A (p.Gly312Glu)
|
rs201579839
|
0.00001
|
NM_001099403.2(PRDM8):c.940A>T (p.Arg314Trp)
|
rs769365726
|
0.00001
|
NM_001099403.2(PRDM8):c.983G>C (p.Gly328Ala)
|
rs1440891569
|
0.00001
|
NM_001099403.2(PRDM8):c.992G>A (p.Gly331Glu)
|
rs1177151496
|
0.00001
|
NM_001112741.2(KCNC1):c.121G>A (p.Asp41Asn)
|
rs1192156090
|
0.00001
|
NM_001112741.2(KCNC1):c.131G>A (p.Ser44Asn)
|
rs773455390
|
0.00001
|
NM_001112741.2(KCNC1):c.1391C>T (p.Pro464Leu)
|
rs899899700
|
0.00001
|
NM_001112741.2(KCNC1):c.1409A>G (p.Asn470Ser)
|
rs143588903
|
0.00001
|
NM_001112741.2(KCNC1):c.1439A>G (p.His480Arg)
|
rs1409273169
|
0.00001
|
NM_001112741.2(KCNC1):c.148C>T (p.Pro50Ser)
|
rs763076681
|
0.00001
|
NM_001112741.2(KCNC1):c.1549G>A (p.Glu517Lys)
|
rs1243389624
|
0.00001
|
NM_001112741.2(KCNC1):c.1564A>G (p.Ile522Val)
|
rs920182710
|
0.00001
|
NM_001112741.2(KCNC1):c.159C>A (p.Asp53Glu)
|
rs1393327105
|
0.00001
|
NM_001112741.2(KCNC1):c.1606C>T (p.Arg536Cys)
|
rs370730720
|
0.00001
|
NM_001112741.2(KCNC1):c.1607G>A (p.Arg536His)
|
rs1442404828
|
0.00001
|
NM_001112741.2(KCNC1):c.1621G>A (p.Glu541Lys)
|
rs896883949
|
0.00001
|
NM_001112741.2(KCNC1):c.1627T>C (p.Tyr543His)
|
rs775725087
|
0.00001
|
NM_001112741.2(KCNC1):c.1663G>A (p.Ala555Thr)
|
rs1237851177
|
0.00001
|
NM_001112741.2(KCNC1):c.1664C>T (p.Ala555Val)
|
rs1006803225
|
0.00001
|
NM_001112741.2(KCNC1):c.1669C>T (p.Pro557Ser)
|
rs773372284
|
0.00001
|
NM_001112741.2(KCNC1):c.1729A>C (p.Met577Leu)
|
rs755441537
|
0.00001
|
NM_001112741.2(KCNC1):c.1739A>G (p.Glu580Gly)
|
rs1284857169
|
0.00001
|
NM_001112741.2(KCNC1):c.394G>A (p.Asp132Asn)
|
rs770445113
|
0.00001
|
NM_001112741.2(KCNC1):c.494C>T (p.Pro165Leu)
|
rs749790557
|
0.00001
|
NM_001112741.2(KCNC1):c.511C>T (p.Arg171Cys)
|
rs1286632713
|
0.00001
|
NM_001112741.2(KCNC1):c.523C>T (p.Arg175Cys)
|
rs1197911307
|
0.00001
|
NM_001112741.2(KCNC1):c.571-9T>A
|
rs1163443609
|
0.00001
|
NM_001112741.2(KCNC1):c.654C>A (p.Ile218=)
|
rs747207268
|
0.00001
|
NM_001112741.2(KCNC1):c.667G>A (p.Glu223Lys)
|
rs1849232122
|
0.00001
|
NM_001112741.2(KCNC1):c.701G>A (p.Arg234His)
|
rs763794003
|
0.00001
|
NM_001112741.2(KCNC1):c.710G>A (p.Arg237Gln)
|
rs200015927
|
0.00001
|
NM_001112741.2(KCNC1):c.751G>A (p.Val251Ile)
|
rs1465921956
|
0.00001
|
NM_001112741.2(KCNC1):c.806A>G (p.Asn269Ser)
|
rs368573465
|
0.00001
|
NM_001112741.2(KCNC1):c.889G>A (p.Gly297Ser)
|
rs781542866
|
0.00001
|
NM_001122752.2(SERPINI1):c.1033A>G (p.Asn345Asp)
|
rs200482511
|
0.00001
|
NM_001122752.2(SERPINI1):c.107G>A (p.Arg36His)
|
rs780236670
|
0.00001
|
NM_001122752.2(SERPINI1):c.1117G>A (p.Asp373Asn)
|
rs767865960
|
0.00001
|
NM_001122752.2(SERPINI1):c.115G>A (p.Ala39Thr)
|
rs1307825318
|
0.00001
|
NM_001122752.2(SERPINI1):c.1186C>T (p.His396Tyr)
|
rs750646140
|
0.00001
|
NM_001122752.2(SERPINI1):c.133A>G (p.Asn45Asp)
|
rs769089864
|
0.00001
|
NM_001122752.2(SERPINI1):c.144C>A (p.Phe48Leu)
|
rs776746623
|
0.00001
|
NM_001122752.2(SERPINI1):c.166G>T (p.Ala56Ser)
|
rs1050971384
|
0.00001
|
NM_001122752.2(SERPINI1):c.20T>C (p.Phe7Ser)
|
rs191197474
|
0.00001
|
NM_001122752.2(SERPINI1):c.250+5G>A
|
rs1447537890
|
0.00001
|
NM_001122752.2(SERPINI1):c.302A>T (p.Glu101Val)
|
rs749315755
|
0.00001
|
NM_001122752.2(SERPINI1):c.317T>A (p.Met106Lys)
|
rs768598501
|
0.00001
|
NM_001122752.2(SERPINI1):c.481+4T>C
|
rs1191891165
|
0.00001
|
NM_001122752.2(SERPINI1):c.482-5A>G
|
rs1382961035
|
0.00001
|
NM_001122752.2(SERPINI1):c.526A>G (p.Thr176Ala)
|
rs762427588
|
0.00001
|
NM_001122752.2(SERPINI1):c.575C>T (p.Ser192Leu)
|
rs777452195
|
0.00001
|
NM_001122752.2(SERPINI1):c.596C>T (p.Thr199Ile)
|
rs61761892
|
0.00001
|
NM_001122752.2(SERPINI1):c.694T>G (p.Ser232Ala)
|
rs749782862
|
0.00001
|
NM_001122752.2(SERPINI1):c.703G>T (p.Ala235Ser)
|
rs774334657
|
0.00001
|
NM_001122752.2(SERPINI1):c.778C>A (p.Gln260Lys)
|
rs780784169
|
0.00001
|
NM_001122752.2(SERPINI1):c.796A>G (p.Thr266Ala)
|
rs1210708843
|
0.00001
|
NM_001122752.2(SERPINI1):c.841A>C (p.Asn281His)
|
rs151212615
|
0.00001
|
NM_001122752.2(SERPINI1):c.854A>C (p.Lys285Thr)
|
rs772141992
|
0.00001
|
NM_001122752.2(SERPINI1):c.862G>A (p.Val288Ile)
|
rs760906938
|
0.00001
|
NM_001122752.2(SERPINI1):c.914A>T (p.Asp305Val)
|
rs756818970
|
0.00001
|
NM_001122752.2(SERPINI1):c.965T>G (p.Leu322Trp)
|
rs1271122328
|
0.00001
|
NM_001134407.3(GRIN2A):c.1007+6A>G
|
rs1427858640
|
0.00001
|
NM_001134407.3(GRIN2A):c.1019A>G (p.Asn340Ser)
|
rs1040519934
|
0.00001
|
NM_001134407.3(GRIN2A):c.1123G>A (p.Val375Met)
|
rs746834456
|
0.00001
|
NM_001134407.3(GRIN2A):c.1223T>C (p.Ile408Thr)
|
rs1431001691
|
0.00001
|
NM_001134407.3(GRIN2A):c.1249G>A (p.Val417Ile)
|
rs749504561
|
0.00001
|
NM_001134407.3(GRIN2A):c.1279G>C (p.Glu427Gln)
|
rs560839364
|
0.00001
|
NM_001134407.3(GRIN2A):c.1295A>G (p.Asn432Ser)
|
rs1390579090
|
0.00001
|
NM_001134407.3(GRIN2A):c.1310G>A (p.Arg437Gln)
|
rs770071260
|
0.00001
|
NM_001134407.3(GRIN2A):c.1331A>G (p.Asn444Ser)
|
rs747167014
|
0.00001
|
NM_001134407.3(GRIN2A):c.1341T>A (p.Asn447Lys)
|
rs779989663
|
0.00001
|
NM_001134407.3(GRIN2A):c.1348A>T (p.Met450Leu)
|
rs2042669462
|
0.00001
|
NM_001134407.3(GRIN2A):c.1675G>A (p.Val559Met)
|
rs1476673300
|
0.00001
|
NM_001134407.3(GRIN2A):c.1738A>G (p.Ser580Gly)
|
rs777029084
|
0.00001
|
NM_001134407.3(GRIN2A):c.1815A>G (p.Ile605Met)
|
rs986690961
|
0.00001
|
NM_001134407.3(GRIN2A):c.2518C>T (p.Leu840Phe)
|
rs371352783
|
0.00001
|
NM_001134407.3(GRIN2A):c.2552G>C (p.Gly851Ala)
|
rs1447076076
|
0.00001
|
NM_001134407.3(GRIN2A):c.2647C>G (p.Pro883Ala)
|
rs770982536
|
0.00001
|
NM_001134407.3(GRIN2A):c.268A>C (p.Met90Leu)
|
rs2050232660
|
0.00001
|
NM_001134407.3(GRIN2A):c.269T>C (p.Met90Thr)
|
rs933535128
|
0.00001
|
NM_001134407.3(GRIN2A):c.280C>T (p.Arg94Cys)
|
rs1282664179
|
0.00001
|
NM_001134407.3(GRIN2A):c.2833G>A (p.Asp945Asn)
|
rs1305013569
|
0.00001
|
NM_001134407.3(GRIN2A):c.2877C>G (p.Asn959Lys)
|
rs756576680
|
0.00001
|
NM_001134407.3(GRIN2A):c.2985G>A (p.Thr995=)
|
rs781646325
|
0.00001
|
NM_001134407.3(GRIN2A):c.3118G>A (p.Glu1040Lys)
|
rs778490114
|
0.00001
|
NM_001134407.3(GRIN2A):c.3163G>C (p.Glu1055Gln)
|
rs370107080
|
0.00001
|
NM_001134407.3(GRIN2A):c.3341G>C (p.Arg1114Thr)
|
rs1555482504
|
0.00001
|
NM_001134407.3(GRIN2A):c.3373G>A (p.Glu1125Lys)
|
rs1200593226
|
0.00001
|
NM_001134407.3(GRIN2A):c.3398C>G (p.Pro1133Arg)
|
rs1311723266
|
0.00001
|
NM_001134407.3(GRIN2A):c.3433G>A (p.Val1145Met)
|
rs779746293
|
0.00001
|
NM_001134407.3(GRIN2A):c.3522T>A (p.Asn1174Lys)
|
rs772104446
|
0.00001
|
NM_001134407.3(GRIN2A):c.3678C>T (p.Gly1226=)
|
rs749144109
|
0.00001
|
NM_001134407.3(GRIN2A):c.3722G>A (p.Arg1241Gln)
|
rs886042648
|
0.00001
|
NM_001134407.3(GRIN2A):c.3863G>A (p.Arg1288His)
|
rs778951185
|
0.00001
|
NM_001134407.3(GRIN2A):c.4126C>A (p.Arg1376Ser)
|
rs1426934537
|
0.00001
|
NM_001134407.3(GRIN2A):c.4310A>G (p.Asn1437Ser)
|
rs1427097667
|
0.00001
|
NM_001134407.3(GRIN2A):c.50T>C (p.Val17Ala)
|
rs2050242755
|
0.00001
|
NM_001134407.3(GRIN2A):c.62C>T (p.Pro21Leu)
|
rs749314552
|
0.00001
|
NM_001134407.3(GRIN2A):c.869C>T (p.Ala290Val)
|
rs199528312
|
0.00001
|
NM_001161352.2(KCNMA1):c.1321G>A (p.Val441Ile)
|
rs756023062
|
0.00001
|
NM_001161352.2(KCNMA1):c.140C>T (p.Ser47Phe)
|
rs907549386
|
0.00001
|
NM_001161352.2(KCNMA1):c.1442T>C (p.Ile481Thr)
|
rs199570223
|
0.00001
|
NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr)
|
rs202213336
|
0.00001
|
NM_001161352.2(KCNMA1):c.1534A>G (p.Ile512Val)
|
rs781682363
|
0.00001
|
NM_001161352.2(KCNMA1):c.1594-6C>A
|
rs1373150494
|
0.00001
|
NM_001161352.2(KCNMA1):c.1632A>C (p.Glu544Asp)
|
rs143385319
|
0.00001
|
NM_001161352.2(KCNMA1):c.1749+5C>T
|
rs868280659
|
0.00001
|
NM_001161352.2(KCNMA1):c.1822A>G (p.Ser608Gly)
|
rs760442123
|
0.00001
|
NM_001161352.2(KCNMA1):c.187G>C (p.Glu63Gln)
|
rs749265202
|
0.00001
|
NM_001161352.2(KCNMA1):c.1967A>C (p.Glu656Ala)
|
rs917980352
|
0.00001
|
NM_001161352.2(KCNMA1):c.1990G>A (p.Ala664Thr)
|
rs2092521373
|
0.00001
|
NM_001161352.2(KCNMA1):c.2282C>T (p.Pro761Leu)
|
rs771363378
|
0.00001
|
NM_001161352.2(KCNMA1):c.2306A>C (p.Lys769Thr)
|
rs2075559827
|
0.00001
|
NM_001161352.2(KCNMA1):c.2345C>T (p.Ser782Leu)
|
rs145067821
|
0.00001
|
NM_001161352.2(KCNMA1):c.2350A>G (p.Lys784Glu)
|
rs751919609
|
0.00001
|
NM_001161352.2(KCNMA1):c.2404A>G (p.Met802Val)
|
rs200544842
|
0.00001
|
NM_001161352.2(KCNMA1):c.2414A>G (p.Asn805Ser)
|
rs1211672809
|
0.00001
|
NM_001161352.2(KCNMA1):c.2660A>G (p.Lys887Arg)
|
rs753684298
|
0.00001
|
NM_001161352.2(KCNMA1):c.2806A>G (p.Thr936Ala)
|
rs201167566
|
0.00001
|
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile)
|
rs768061213
|
0.00001
|
NM_001161352.2(KCNMA1):c.3118G>A (p.Val1040Ile)
|
rs201534741
|
0.00001
|
NM_001161352.2(KCNMA1):c.3145G>A (p.Ala1049Thr)
|
rs199586877
|
0.00001
|
NM_001161352.2(KCNMA1):c.3147+3G>A
|
rs1371574005
|
0.00001
|
NM_001161352.2(KCNMA1):c.3147+6T>C
|
rs558650814
|
0.00001
|
NM_001161352.2(KCNMA1):c.3148A>G (p.Thr1050Ala)
|
rs2040120292
|
0.00001
|
NM_001161352.2(KCNMA1):c.3166A>G (p.Ile1056Val)
|
rs1005340112
|
0.00001
|
NM_001161352.2(KCNMA1):c.3281A>G (p.Asn1094Ser)
|
rs1395464276
|
0.00001
|
NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn)
|
rs1314238418
|
0.00001
|
NM_001161352.2(KCNMA1):c.340C>A (p.Leu114Met)
|
rs780623276
|
0.00001
|
NM_001161352.2(KCNMA1):c.3416G>A (p.Arg1139Gln)
|
rs1397556923
|
0.00001
|
NM_001161352.2(KCNMA1):c.3493G>C (p.Glu1165Gln)
|
rs757053731
|
0.00001
|
NM_001161352.2(KCNMA1):c.3506C>T (p.Thr1169Met)
|
rs200284976
|
0.00001
|
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp)
|
rs747029218
|
0.00001
|
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln)
|
rs200141207
|
0.00001
|
NM_001161352.2(KCNMA1):c.3578C>T (p.Ser1193Phe)
|
rs777595748
|
0.00001
|
NM_001161352.2(KCNMA1):c.3584C>T (p.Ser1195Leu)
|
rs202024249
|
0.00001
|
NM_001161352.2(KCNMA1):c.3598A>G (p.Ser1200Gly)
|
rs985517880
|
0.00001
|
NM_001161352.2(KCNMA1):c.3644G>A (p.Arg1215Gln)
|
rs760806787
|
0.00001
|
NM_001161352.2(KCNMA1):c.364G>A (p.Gly122Arg)
|
rs1167824169
|
0.00001
|
NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln)
|
rs200723995
|
0.00001
|
NM_001161352.2(KCNMA1):c.3670T>C (p.Ser1224Pro)
|
rs1370349180
|
0.00001
|
NM_001161352.2(KCNMA1):c.3703C>T (p.Arg1235Trp)
|
rs139370249
|
0.00001
|
NM_001161352.2(KCNMA1):c.378+7C>T
|
rs754351803
|
0.00001
|
NM_001161352.2(KCNMA1):c.385C>G (p.Gln129Glu)
|
rs377430922
|
0.00001
|
NM_001161352.2(KCNMA1):c.422C>T (p.Thr141Ile)
|
rs1002138627
|
0.00001
|
NM_001161352.2(KCNMA1):c.4G>A (p.Ala2Thr)
|
rs1344908173
|
0.00001
|
NM_001161352.2(KCNMA1):c.59G>A (p.Gly20Asp)
|
rs888320237
|
0.00001
|
NM_001161352.2(KCNMA1):c.632A>G (p.Lys211Arg)
|
rs771113362
|
0.00001
|
NM_001161352.2(KCNMA1):c.667G>A (p.Val223Met)
|
rs779829350
|
0.00001
|
NM_001161352.2(KCNMA1):c.96C>G (p.Asn32Lys)
|
rs749212119
|
0.00001
|
NM_001242896.3(DEPDC5):c.1010C>T (p.Thr337Met)
|
rs1037878155
|
0.00001
|
NM_001242896.3(DEPDC5):c.1015G>A (p.Gly339Arg)
|
rs761634410
|
0.00001
|
NM_001242896.3(DEPDC5):c.1040G>A (p.Arg347His)
|
rs760668998
|
0.00001
|
NM_001242896.3(DEPDC5):c.1261C>G (p.Pro421Ala)
|
rs764297665
|
0.00001
|
NM_001242896.3(DEPDC5):c.1272A>T (p.Lys424Asn)
|
rs1406415856
|
0.00001
|
NM_001242896.3(DEPDC5):c.1273C>G (p.Leu425Val)
|
rs2087513191
|
0.00001
|
NM_001242896.3(DEPDC5):c.1287+3A>G
|
rs750267006
|
0.00001
|
NM_001242896.3(DEPDC5):c.1315C>T (p.Arg439Cys)
|
rs777306555
|
0.00001
|
NM_001242896.3(DEPDC5):c.1325-10T>C
|
rs752612331
|
0.00001
|
NM_001242896.3(DEPDC5):c.1339A>G (p.Lys447Glu)
|
rs756972161
|
0.00001
|
NM_001242896.3(DEPDC5):c.1381G>A (p.Ala461Thr)
|
rs771161131
|
0.00001
|
NM_001242896.3(DEPDC5):c.1385A>G (p.Tyr462Cys)
|
rs747546981
|
0.00001
|
NM_001242896.3(DEPDC5):c.1393C>G (p.Gln465Glu)
|
rs886039260
|
0.00001
|
NM_001242896.3(DEPDC5):c.1421G>A (p.Arg474Gln)
|
rs1349979537
|
0.00001
|
NM_001242896.3(DEPDC5):c.1454G>A (p.Arg485Gln)
|
rs886039278
|
0.00001
|
NM_001242896.3(DEPDC5):c.1460G>A (p.Arg487Gln)
|
rs775080915
|
0.00001
|
NM_001242896.3(DEPDC5):c.1489T>C (p.Ser497Pro)
|
rs1181000748
|
0.00001
|
NM_001242896.3(DEPDC5):c.1550G>A (p.Arg517Lys)
|
rs765781653
|
0.00001
|
NM_001242896.3(DEPDC5):c.1594A>G (p.Ile532Val)
|
rs764496748
|
0.00001
|
NM_001242896.3(DEPDC5):c.1609C>T (p.His537Tyr)
|
rs1314485669
|
0.00001
|
NM_001242896.3(DEPDC5):c.1610A>G (p.His537Arg)
|
rs988963661
|
0.00001
|
NM_001242896.3(DEPDC5):c.1664G>A (p.Arg555Gln)
|
rs199688798
|
0.00001
|
NM_001242896.3(DEPDC5):c.1666G>A (p.Asp556Asn)
|
rs1064795160
|
0.00001
|
NM_001242896.3(DEPDC5):c.167A>G (p.Lys56Arg)
|
rs966689579
|
0.00001
|
NM_001242896.3(DEPDC5):c.1700G>A (p.Arg567Gln)
|
rs985499891
|
0.00001
|
NM_001242896.3(DEPDC5):c.1704C>G (p.Asp568Glu)
|
rs1236432902
|
0.00001
|
NM_001242896.3(DEPDC5):c.1720A>G (p.Arg574Gly)
|
rs762484005
|
0.00001
|
NM_001242896.3(DEPDC5):c.1777C>T (p.Pro593Ser)
|
rs777632867
|
0.00001
|
NM_001242896.3(DEPDC5):c.1782G>C (p.Gln594His)
|
rs1446743254
|
0.00001
|
NM_001242896.3(DEPDC5):c.1794T>G (p.Ile598Met)
|
rs918653735
|
0.00001
|
NM_001242896.3(DEPDC5):c.1888A>G (p.Ile630Val)
|
rs775666547
|
0.00001
|
NM_001242896.3(DEPDC5):c.1936A>G (p.Ser646Gly)
|
rs377294383
|
0.00001
|
NM_001242896.3(DEPDC5):c.194-3T>C
|
rs749093030
|
0.00001
|
NM_001242896.3(DEPDC5):c.2006+4A>G
|
rs758150938
|
0.00001
|
NM_001242896.3(DEPDC5):c.2098G>T (p.Gly700Cys)
|
rs767158228
|
0.00001
|
NM_001242896.3(DEPDC5):c.20A>G (p.Tyr7Cys)
|
rs748813142
|
0.00001
|
NM_001242896.3(DEPDC5):c.2161C>A (p.Pro721Thr)
|
rs568282457
|
0.00001
|
NM_001242896.3(DEPDC5):c.2281C>T (p.Pro761Ser)
|
rs2091060364
|
0.00001
|
NM_001242896.3(DEPDC5):c.2335C>G (p.Pro779Ala)
|
rs756599738
|
0.00001
|
NM_001242896.3(DEPDC5):c.2341G>C (p.Ala781Pro)
|
rs761280493
|
0.00001
|
NM_001242896.3(DEPDC5):c.2354+6T>C
|
rs2091065559
|
0.00001
|
NM_001242896.3(DEPDC5):c.2387A>G (p.Gln796Arg)
|
rs1219014589
|
0.00001
|
NM_001242896.3(DEPDC5):c.2444T>C (p.Val815Ala)
|
rs777644077
|
0.00001
|
NM_001242896.3(DEPDC5):c.2482C>T (p.Pro828Ser)
|
rs200526736
|
0.00001
|
NM_001242896.3(DEPDC5):c.2519T>A (p.Leu840His)
|
rs746197380
|
0.00001
|
NM_001242896.3(DEPDC5):c.2528G>A (p.Arg843Gln)
|
rs756611357
|
0.00001
|
NM_001242896.3(DEPDC5):c.2533C>T (p.Arg845Cys)
|
rs780652126
|
0.00001
|
NM_001242896.3(DEPDC5):c.2534G>A (p.Arg845His)
|
rs1396979413
|
0.00001
|
NM_001242896.3(DEPDC5):c.2550C>G (p.Asp850Glu)
|
rs774408944
|
0.00001
|
NM_001242896.3(DEPDC5):c.257A>G (p.Tyr86Cys)
|
rs377039864
|
0.00001
|
NM_001242896.3(DEPDC5):c.2590A>T (p.Thr864Ser)
|
rs752198928
|
0.00001
|
NM_001242896.3(DEPDC5):c.2618C>T (p.Thr873Met)
|
rs2091503304
|
0.00001
|
NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile)
|
rs768456731
|
0.00001
|
NM_001242896.3(DEPDC5):c.2690C>T (p.Ser897Leu)
|
rs371496533
|
0.00001
|
NM_001242896.3(DEPDC5):c.2731G>A (p.Glu911Lys)
|
rs1214608865
|
0.00001
|
NM_001242896.3(DEPDC5):c.2735G>A (p.Arg912Gln)
|
rs781159677
|
0.00001
|
NM_001242896.3(DEPDC5):c.279+3A>G
|
rs1211730596
|
0.00001
|
NM_001242896.3(DEPDC5):c.280-5T>C
|
rs1478867993
|
0.00001
|
NM_001242896.3(DEPDC5):c.2834G>A (p.Arg945His)
|
rs772897391
|
0.00001
|
NM_001242896.3(DEPDC5):c.2863G>A (p.Ala955Thr)
|
rs538998618
|
0.00001
|
NM_001242896.3(DEPDC5):c.2879C>T (p.Thr960Met)
|
rs1064795107
|
0.00001
|
NM_001242896.3(DEPDC5):c.2890G>A (p.Ala964Thr)
|
rs780008727
|
0.00001
|
NM_001242896.3(DEPDC5):c.2894A>G (p.His965Arg)
|
rs2091648587
|
0.00001
|
NM_001242896.3(DEPDC5):c.28G>A (p.Val10Ile)
|
rs375027042
|
0.00001
|
NM_001242896.3(DEPDC5):c.2942A>G (p.Gln981Arg)
|
rs763270938
|
0.00001
|
NM_001242896.3(DEPDC5):c.298G>A (p.Val100Met)
|
rs797045522
|
0.00001
|
NM_001242896.3(DEPDC5):c.3008A>G (p.Asp1003Gly)
|
rs1413417458
|
0.00001
|
NM_001242896.3(DEPDC5):c.3011G>A (p.Arg1004His)
|
rs754059546
|
0.00001
|
NM_001242896.3(DEPDC5):c.3017T>C (p.Met1006Thr)
|
rs935896142
|
0.00001
|
NM_001242896.3(DEPDC5):c.3019C>T (p.Arg1007Trp)
|
rs1283955876
|
0.00001
|
NM_001242896.3(DEPDC5):c.3020G>A (p.Arg1007Gln)
|
rs758260908
|
0.00001
|
NM_001242896.3(DEPDC5):c.302A>T (p.Glu101Val)
|
rs1395076142
|
0.00001
|
NM_001242896.3(DEPDC5):c.3049A>G (p.Met1017Val)
|
rs777729993
|
0.00001
|
NM_001242896.3(DEPDC5):c.3071A>C (p.His1024Pro)
|
rs779166833
|
0.00001
|
NM_001242896.3(DEPDC5):c.307A>T (p.Thr103Ser)
|
rs778746859
|
0.00001
|
NM_001242896.3(DEPDC5):c.3097G>T (p.Val1033Leu)
|
rs376313159
|
0.00001
|
NM_001242896.3(DEPDC5):c.3158G>T (p.Cys1053Phe)
|
rs771407307
|
0.00001
|
NM_001242896.3(DEPDC5):c.3202G>A (p.Ala1068Thr)
|
rs763158282
|
0.00001
|
NM_001242896.3(DEPDC5):c.3203C>T (p.Ala1068Val)
|
rs763883192
|
0.00001
|
NM_001242896.3(DEPDC5):c.3212C>T (p.Ala1071Val)
|
rs750296306
|
0.00001
|
NM_001242896.3(DEPDC5):c.3220A>G (p.Ser1074Gly)
|
rs778292246
|
0.00001
|
NM_001242896.3(DEPDC5):c.3232A>G (p.Met1078Val)
|
rs746349872
|
0.00001
|
NM_001242896.3(DEPDC5):c.3256C>T (p.Pro1086Ser)
|
rs914056153
|
0.00001
|
NM_001242896.3(DEPDC5):c.3268G>A (p.Gly1090Arg)
|
rs1490171877
|
0.00001
|
NM_001242896.3(DEPDC5):c.3272C>T (p.Ala1091Val)
|
rs772812141
|
0.00001
|
NM_001242896.3(DEPDC5):c.3293G>A (p.Arg1098His)
|
rs1185705971
|
0.00001
|
NM_001242896.3(DEPDC5):c.3319T>C (p.Phe1107Leu)
|
rs1481478267
|
0.00001
|
NM_001242896.3(DEPDC5):c.3367G>A (p.Gly1123Ser)
|
rs752667037
|
0.00001
|
NM_001242896.3(DEPDC5):c.3377T>G (p.Leu1126Trp)
|
rs1209384122
|
0.00001
|
NM_001242896.3(DEPDC5):c.3380G>A (p.Gly1127Asp)
|
rs941078167
|
0.00001
|
NM_001242896.3(DEPDC5):c.3385T>C (p.Cys1129Arg)
|
rs1037109139
|
0.00001
|
NM_001242896.3(DEPDC5):c.3398C>T (p.Ser1133Phe)
|
rs1199651277
|
0.00001
|
NM_001242896.3(DEPDC5):c.347G>A (p.Arg116Gln)
|
rs777623410
|
0.00001
|
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn)
|
rs865860087
|
0.00001
|
NM_001242896.3(DEPDC5):c.3564-3C>G
|
rs2092931141
|
0.00001
|
NM_001242896.3(DEPDC5):c.3605C>T (p.Pro1202Leu)
|
rs780318358
|
0.00001
|
NM_001242896.3(DEPDC5):c.3623C>T (p.Ala1208Val)
|
rs772280549
|
0.00001
|
NM_001242896.3(DEPDC5):c.363+5G>C
|
rs2082845308
|
0.00001
|
NM_001242896.3(DEPDC5):c.3652G>A (p.Val1218Met)
|
rs752695099
|
0.00001
|
NM_001242896.3(DEPDC5):c.3695A>G (p.Gln1232Arg)
|
rs1161767456
|
0.00001
|
NM_001242896.3(DEPDC5):c.3736G>A (p.Glu1246Lys)
|
rs1278012679
|
0.00001
|
NM_001242896.3(DEPDC5):c.373T>C (p.Cys125Arg)
|
rs778986487
|
0.00001
|
NM_001242896.3(DEPDC5):c.3780A>G (p.Ile1260Met)
|
rs1245190784
|
0.00001
|
NM_001242896.3(DEPDC5):c.3811A>G (p.Met1271Val)
|
rs373588101
|
0.00001
|
NM_001242896.3(DEPDC5):c.3853G>A (p.Asp1285Asn)
|
rs746938769
|
0.00001
|
NM_001242896.3(DEPDC5):c.3872G>A (p.Arg1291His)
|
rs759266712
|
0.00001
|
NM_001242896.3(DEPDC5):c.3910G>A (p.Val1304Met)
|
rs750936617
|
0.00001
|
NM_001242896.3(DEPDC5):c.3968A>G (p.Tyr1323Cys)
|
rs1346869002
|
0.00001
|
NM_001242896.3(DEPDC5):c.3999T>G (p.Ser1333Arg)
|
rs1310040868
|
0.00001
|
NM_001242896.3(DEPDC5):c.4014C>G (p.Ser1338Arg)
|
rs1384860628
|
0.00001
|
NM_001242896.3(DEPDC5):c.4096C>T (p.Arg1366Trp)
|
rs1014849515
|
0.00001
|
NM_001242896.3(DEPDC5):c.4097G>A (p.Arg1366Gln)
|
rs1064795095
|
0.00001
|
NM_001242896.3(DEPDC5):c.4124A>G (p.His1375Arg)
|
rs1260083367
|
0.00001
|
NM_001242896.3(DEPDC5):c.4203+16C>T
|
rs2093490070
|
0.00001
|
NM_001242896.3(DEPDC5):c.4299C>A (p.Asp1433Glu)
|
rs753759814
|
0.00001
|
NM_001242896.3(DEPDC5):c.4300C>T (p.Pro1434Ser)
|
rs1188012593
|
0.00001
|
NM_001242896.3(DEPDC5):c.4306C>T (p.Arg1436Cys)
|
rs778323702
|
0.00001
|
NM_001242896.3(DEPDC5):c.4307G>A (p.Arg1436His)
|
rs948206788
|
0.00001
|
NM_001242896.3(DEPDC5):c.4331A>C (p.Asn1444Thr)
|
rs758019161
|
0.00001
|
NM_001242896.3(DEPDC5):c.4354G>A (p.Gly1452Ser)
|
rs1452980660
|
0.00001
|
NM_001242896.3(DEPDC5):c.4359C>T (p.Ser1453=)
|
rs377333936
|
0.00001
|
NM_001242896.3(DEPDC5):c.4407G>A (p.Met1469Ile)
|
rs2093652679
|
0.00001
|
NM_001242896.3(DEPDC5):c.4505A>C (p.Tyr1502Ser)
|
rs925107113
|
0.00001
|
NM_001242896.3(DEPDC5):c.4571A>G (p.Gln1524Arg)
|
rs377585542
|
0.00001
|
NM_001242896.3(DEPDC5):c.4574G>A (p.Arg1525Gln)
|
rs370366925
|
0.00001
|
NM_001242896.3(DEPDC5):c.4577G>A (p.Arg1526Gln)
|
rs760341957
|
0.00001
|
NM_001242896.3(DEPDC5):c.4583G>A (p.Arg1528Gln)
|
rs758757956
|
0.00001
|
NM_001242896.3(DEPDC5):c.4592C>T (p.Thr1531Ile)
|
rs1064794532
|
0.00001
|
NM_001242896.3(DEPDC5):c.4594A>G (p.Ser1532Gly)
|
rs752046892
|
0.00001
|
NM_001242896.3(DEPDC5):c.4601C>G (p.Thr1534Ser)
|
rs376838464
|
0.00001
|
NM_001242896.3(DEPDC5):c.4628G>A (p.Arg1543Gln)
|
rs749089911
|
0.00001
|
NM_001242896.3(DEPDC5):c.4630G>A (p.Val1544Ile)
|
rs768487257
|
0.00001
|
NM_001242896.3(DEPDC5):c.4635C>G (p.Gly1545=)
|
rs41279981
|
0.00001
|
NM_001242896.3(DEPDC5):c.469A>T (p.Ser157Cys)
|
rs201225084
|
0.00001
|
NM_001242896.3(DEPDC5):c.4711C>T (p.Arg1571Trp)
|
rs778708641
|
0.00001
|
NM_001242896.3(DEPDC5):c.4712G>A (p.Arg1571Gln)
|
rs748114243
|
0.00001
|
NM_001242896.3(DEPDC5):c.4727T>G (p.Phe1576Cys)
|
rs1025857773
|
0.00001
|
NM_001242896.3(DEPDC5):c.4745A>G (p.Asn1582Ser)
|
rs1415667624
|
0.00001
|
NM_001242896.3(DEPDC5):c.4747C>T (p.Arg1583Cys)
|
rs759170497
|
0.00001
|
NM_001242896.3(DEPDC5):c.4757G>A (p.Arg1586Gln)
|
rs774659889
|
0.00001
|
NM_001242896.3(DEPDC5):c.4795C>T (p.His1599Tyr)
|
rs766418499
|
0.00001
|
NM_001242896.3(DEPDC5):c.4808C>T (p.Pro1603Leu)
|
rs755174447
|
0.00001
|
NM_001242896.3(DEPDC5):c.490T>G (p.Phe164Val)
|
rs1359773870
|
0.00001
|
NM_001242896.3(DEPDC5):c.499A>G (p.Thr167Ala)
|
rs374309503
|
0.00001
|
NM_001242896.3(DEPDC5):c.503C>T (p.Ser168Leu)
|
rs377718352
|
0.00001
|
NM_001242896.3(DEPDC5):c.554A>G (p.Asp185Gly)
|
rs2084720246
|
0.00001
|
NM_001242896.3(DEPDC5):c.590_592del (p.Asn197_Gly198delinsSer)
|
rs752918565
|
0.00001
|
NM_001242896.3(DEPDC5):c.638G>C (p.Ser213Thr)
|
rs374290113
|
0.00001
|
NM_001242896.3(DEPDC5):c.722C>T (p.Ser241Leu)
|
rs1397187284
|
0.00001
|
NM_001242896.3(DEPDC5):c.724A>G (p.Ile242Val)
|
rs112040696
|
0.00001
|
NM_001242896.3(DEPDC5):c.728G>A (p.Arg243Gln)
|
rs368129922
|
0.00001
|
NM_001242896.3(DEPDC5):c.763T>C (p.Tyr255His)
|
rs372371916
|
0.00001
|
NM_001242896.3(DEPDC5):c.821T>C (p.Ile274Thr)
|
rs1172897578
|
0.00001
|
NM_001242896.3(DEPDC5):c.946+20A>G
|
rs2086531822
|
0.00001
|
NM_001242896.3(DEPDC5):c.953A>G (p.Asp318Gly)
|
rs1064795102
|
0.00001
|
NM_001242896.3(DEPDC5):c.983G>A (p.Arg328Gln)
|
rs775605247
|
0.00001
|
NM_001271.4(CHD2):c.107A>T (p.Gln36Leu)
|
rs1064794584
|
0.00001
|
NM_001271.4(CHD2):c.1133A>T (p.Gln378Leu)
|
rs1249403093
|
0.00001
|
NM_001271.4(CHD2):c.11A>G (p.Asn4Ser)
|
rs2052524504
|
0.00001
|
NM_001271.4(CHD2):c.1207C>T (p.Arg403Trp)
|
rs1438580585
|
0.00001
|
NM_001271.4(CHD2):c.1225A>G (p.Asn409Asp)
|
rs531251618
|
0.00001
|
NM_001271.4(CHD2):c.12T>G (p.Asn4Lys)
|
rs750955957
|
0.00001
|
NM_001271.4(CHD2):c.1357A>T (p.Ile453Phe)
|
rs144393676
|
0.00001
|
NM_001271.4(CHD2):c.1582C>G (p.His528Asp)
|
rs776364124
|
0.00001
|
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val)
|
rs1060503518
|
0.00001
|
NM_001271.4(CHD2):c.1718C>T (p.Thr573Met)
|
rs780171086
|
0.00001
|
NM_001271.4(CHD2):c.1901T>C (p.Ile634Thr)
|
rs757715547
|
0.00001
|
NM_001271.4(CHD2):c.1994C>T (p.Pro665Leu)
|
rs773901289
|
0.00001
|
NM_001271.4(CHD2):c.2230A>G (p.Thr744Ala)
|
rs1596418984
|
0.00001
|
NM_001271.4(CHD2):c.2352+4G>C
|
rs1173333743
|
0.00001
|
NM_001271.4(CHD2):c.2506C>T (p.Arg836Cys)
|
rs1567148426
|
0.00001
|
NM_001271.4(CHD2):c.2568T>A (p.Asp856Glu)
|
rs770126779
|
0.00001
|
NM_001271.4(CHD2):c.2846C>T (p.Thr949Met)
|
rs1064794542
|
0.00001
|
NM_001271.4(CHD2):c.3238-3C>T
|
rs1596437905
|
0.00001
|
NM_001271.4(CHD2):c.3346C>T (p.Arg1116Cys)
|
rs200013427
|
0.00001
|
NM_001271.4(CHD2):c.3355C>T (p.Arg1119Cys)
|
rs370737593
|
0.00001
|
NM_001271.4(CHD2):c.3359C>T (p.Pro1120Leu)
|
rs2054032013
|
0.00001
|
NM_001271.4(CHD2):c.3371G>A (p.Arg1124Gln)
|
rs746349198
|
0.00001
|
NM_001271.4(CHD2):c.3377A>G (p.Asp1126Gly)
|
rs1343182559
|
0.00001
|
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly)
|
rs927604763
|
0.00001
|
NM_001271.4(CHD2):c.3536A>G (p.Asn1179Ser)
|
rs561920953
|
0.00001
|
NM_001271.4(CHD2):c.3538A>G (p.Ser1180Gly)
|
rs759269259
|
0.00001
|
NM_001271.4(CHD2):c.3586G>A (p.Ala1196Thr)
|
rs561941628
|
0.00001
|
NM_001271.4(CHD2):c.3592G>A (p.Glu1198Lys)
|
rs757981280
|
0.00001
|
NM_001271.4(CHD2):c.3614G>A (p.Arg1205Lys)
|
rs559187972
|
0.00001
|
NM_001271.4(CHD2):c.3649G>C (p.Val1217Leu)
|
rs1465237014
|
0.00001
|
NM_001271.4(CHD2):c.3672A>G (p.Gln1224=)
|
rs768542034
|
0.00001
|
NM_001271.4(CHD2):c.3803G>A (p.Arg1268His)
|
rs1410226460
|
0.00001
|
NM_001271.4(CHD2):c.3893C>T (p.Pro1298Leu)
|
rs1273405855
|
0.00001
|
NM_001271.4(CHD2):c.4072G>A (p.Glu1358Lys)
|
rs766747626
|
0.00001
|
NM_001271.4(CHD2):c.4137+5G>A
|
rs762703910
|
0.00001
|
NM_001271.4(CHD2):c.4193A>C (p.Lys1398Thr)
|
rs1239452633
|
0.00001
|
NM_001271.4(CHD2):c.4213A>G (p.Met1405Val)
|
rs750869247
|
0.00001
|
NM_001271.4(CHD2):c.4225A>G (p.Lys1409Glu)
|
rs1334969628
|
0.00001
|
NM_001271.4(CHD2):c.4228G>T (p.Asp1410Tyr)
|
rs775901148
|
0.00001
|
NM_001271.4(CHD2):c.4274A>G (p.Glu1425Gly)
|
rs1304514223
|
0.00001
|
NM_001271.4(CHD2):c.4279-4A>G
|
rs774362000
|
0.00001
|
NM_001271.4(CHD2):c.4319G>T (p.Arg1440Leu)
|
rs374157769
|
0.00001
|
NM_001271.4(CHD2):c.4481A>G (p.Asn1494Ser)
|
rs913833972
|
0.00001
|
NM_001271.4(CHD2):c.4541C>T (p.Ala1514Val)
|
rs779865037
|
0.00001
|
NM_001271.4(CHD2):c.4559A>T (p.Tyr1520Phe)
|
rs1443730022
|
0.00001
|
NM_001271.4(CHD2):c.4678T>A (p.Ser1560Thr)
|
rs747637652
|
0.00001
|
NM_001271.4(CHD2):c.4714G>A (p.Val1572Met)
|
rs755267457
|
0.00001
|
NM_001271.4(CHD2):c.4793C>T (p.Ser1598Leu)
|
rs1382300456
|
0.00001
|
NM_001271.4(CHD2):c.4811A>C (p.Gln1604Pro)
|
rs1355095407
|
0.00001
|
NM_001271.4(CHD2):c.4826C>T (p.Pro1609Leu)
|
rs745396398
|
0.00001
|
NM_001271.4(CHD2):c.4864G>A (p.Asp1622Asn)
|
rs1044619239
|
0.00001
|
NM_001271.4(CHD2):c.486A>C (p.Gln162His)
|
rs1018764419
|
0.00001
|
NM_001271.4(CHD2):c.4910G>A (p.Arg1637Gln)
|
rs752891322
|
0.00001
|
NM_001271.4(CHD2):c.4931G>A (p.Arg1644Lys)
|
rs997227724
|
0.00001
|
NM_001271.4(CHD2):c.4960A>C (p.Asn1654His)
|
rs1437890850
|
0.00001
|
NM_001271.4(CHD2):c.4961A>G (p.Asn1654Ser)
|
rs1064795301
|
0.00001
|
NM_001271.4(CHD2):c.5008T>C (p.Tyr1670His)
|
rs775504391
|
0.00001
|
NM_001271.4(CHD2):c.5009A>G (p.Tyr1670Cys)
|
rs897082911
|
0.00001
|
NM_001271.4(CHD2):c.5051A>T (p.His1684Leu)
|
rs770784804
|
0.00001
|
NM_001271.4(CHD2):c.5059G>A (p.Gly1687Arg)
|
rs149696735
|
0.00001
|
NM_001271.4(CHD2):c.5129G>A (p.Arg1710Gln)
|
rs762575438
|
0.00001
|
NM_001271.4(CHD2):c.5134C>T (p.His1712Tyr)
|
rs1006465697
|
0.00001
|
NM_001271.4(CHD2):c.5153G>A (p.Arg1718Lys)
|
rs2054517021
|
0.00001
|
NM_001271.4(CHD2):c.5154-3C>A
|
rs924030126
|
0.00001
|
NM_001271.4(CHD2):c.5197C>G (p.Pro1733Ala)
|
rs1461476360
|
0.00001
|
NM_001271.4(CHD2):c.5211C>G (p.His1737Gln)
|
rs1350393242
|
0.00001
|
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys)
|
rs767099765
|
0.00001
|
NM_001271.4(CHD2):c.5258A>G (p.Tyr1753Cys)
|
rs765267794
|
0.00001
|
NM_001271.4(CHD2):c.5267A>T (p.Gln1756Leu)
|
rs1045351387
|
0.00001
|
NM_001271.4(CHD2):c.5287C>T (p.Arg1763Cys)
|
rs1486760399
|
0.00001
|
NM_001271.4(CHD2):c.5335C>G (p.Pro1779Ala)
|
rs374271060
|
0.00001
|
NM_001271.4(CHD2):c.5348C>T (p.Ala1783Val)
|
rs1485233200
|
0.00001
|
NM_001271.4(CHD2):c.5362C>T (p.Arg1788Cys)
|
rs759259416
|
0.00001
|
NM_001271.4(CHD2):c.5414A>G (p.His1805Arg)
|
rs1287619700
|
0.00001
|
NM_001271.4(CHD2):c.5476C>T (p.Arg1826Trp)
|
rs759398974
|
0.00001
|
NM_001271.4(CHD2):c.547A>G (p.Arg183Gly)
|
rs1264879568
|
0.00001
|
NM_001271.4(CHD2):c.557T>C (p.Val186Ala)
|
rs760795656
|
0.00001
|
NM_001271.4(CHD2):c.574A>G (p.Lys192Glu)
|
rs377701152
|
0.00001
|
NM_001271.4(CHD2):c.594G>C (p.Gln198His)
|
rs374064833
|
0.00001
|
NM_001271.4(CHD2):c.599G>A (p.Gly200Glu)
|
rs368498690
|
0.00001
|
NM_001271.4(CHD2):c.601A>G (p.Lys201Glu)
|
rs750067899
|
0.00001
|
NM_001271.4(CHD2):c.623C>T (p.Ser208Phe)
|
rs2053325261
|
0.00001
|
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp)
|
rs749147803
|
0.00001
|
NM_001271.4(CHD2):c.633T>G (p.Asp211Glu)
|
rs768365369
|
0.00001
|
NM_001271.4(CHD2):c.663G>C (p.Gln221His)
|
rs776917899
|
0.00001
|
NM_001271.4(CHD2):c.668G>A (p.Arg223His)
|
rs1041959719
|
0.00001
|
NM_001271.4(CHD2):c.688G>T (p.Val230Phe)
|
rs762370978
|
0.00001
|
NM_001271.4(CHD2):c.758T>C (p.Val253Ala)
|
rs773621487
|
0.00001
|
NM_001271.4(CHD2):c.825A>T (p.Gly275=)
|
rs372257500
|
0.00001
|
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr)
|
rs375521197
|
0.00001
|
NM_001271.4(CHD2):c.835G>A (p.Ala279Thr)
|
rs1313540517
|
0.00001
|
NM_001271.4(CHD2):c.857T>C (p.Ile286Thr)
|
rs530919126
|
0.00001
|
NM_001271.4(CHD2):c.871G>A (p.Asp291Asn)
|
rs201819533
|
0.00001
|
NM_001271.4(CHD2):c.878G>C (p.Ser293Thr)
|
rs1555439526
|
0.00001
|
NM_001271.4(CHD2):c.890A>T (p.Asp297Val)
|
rs527697910
|
0.00001
|
NM_001271.4(CHD2):c.98C>T (p.Ser33Leu)
|
rs377012056
|
0.00001
|
NM_003042.4(SLC6A1):c.1191+3del
|
rs1486885212
|
0.00001
|
NM_003042.4(SLC6A1):c.1255C>T (p.Arg419Cys)
|
rs910130675
|
0.00001
|
NM_003042.4(SLC6A1):c.1426G>A (p.Gly476Ser)
|
rs1328806521
|
0.00001
|
NM_003042.4(SLC6A1):c.1530C>T (p.Gly510=)
|
rs199832552
|
0.00001
|
NM_003042.4(SLC6A1):c.1664T>C (p.Met555Thr)
|
rs755011081
|
0.00001
|
NM_003042.4(SLC6A1):c.1696-3C>T
|
rs763356899
|
0.00001
|
NM_003042.4(SLC6A1):c.1748G>T (p.Gly583Val)
|
rs1274193602
|
0.00001
|
NM_003042.4(SLC6A1):c.238+5G>T
|
rs747465142
|
0.00001
|
NM_003042.4(SLC6A1):c.28G>A (p.Asp10Asn)
|
rs751108300
|
0.00001
|
NM_003042.4(SLC6A1):c.582-3C>T
|
rs368174761
|
0.00001
|
NM_003042.4(SLC6A1):c.589A>G (p.Met197Val)
|
rs1031299891
|
0.00001
|
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg)
|
rs1697439559
|
0.00001
|
NM_003042.4(SLC6A1):c.714+5G>A
|
rs770987659
|
0.00001
|
NM_003042.4(SLC6A1):c.797A>G (p.Glu266Gly)
|
rs1027128426
|
0.00001
|
NM_003042.4(SLC6A1):c.79C>T (p.Pro27Ser)
|
rs1395387100
|
0.00001
|
NM_003042.4(SLC6A1):c.90G>C (p.Leu30Phe)
|
rs1271404941
|
0.00001
|
NM_003042.4(SLC6A1):c.946G>A (p.Val316Ile)
|
rs1409813316
|
0.00001
|
NM_004287.5(GOSR2):c.104A>G (p.Asn35Ser)
|
rs148962223
|
0.00001
|
NM_004287.5(GOSR2):c.10C>G (p.Leu4Val)
|
rs756276963
|
0.00001
|
NM_004287.5(GOSR2):c.128A>G (p.Gln43Arg)
|
rs772763319
|
0.00001
|
NM_004287.5(GOSR2):c.140G>A (p.Arg47His)
|
rs771228855
|
0.00001
|
NM_004287.5(GOSR2):c.14T>A (p.Phe5Tyr)
|
rs897281647
|
0.00001
|
NM_004287.5(GOSR2):c.154G>A (p.Glu52Lys)
|
rs1286041018
|
0.00001
|
NM_004287.5(GOSR2):c.170A>G (p.Lys57Arg)
|
rs1396367618
|
0.00001
|
NM_004287.5(GOSR2):c.1A>G (p.Met1Val)
|
rs879328855
|
0.00001
|
NM_004287.5(GOSR2):c.205C>T (p.Arg69Trp)
|
rs770149230
|
0.00001
|
NM_004287.5(GOSR2):c.206G>C (p.Arg69Pro)
|
rs780211637
|
0.00001
|
NM_004287.5(GOSR2):c.247G>A (p.Ala83Thr)
|
rs920586501
|
0.00001
|
NM_004287.5(GOSR2):c.248C>T (p.Ala83Val)
|
rs577835455
|
0.00001
|
NM_004287.5(GOSR2):c.260T>C (p.Phe87Ser)
|
rs374912150
|
0.00001
|
NM_004287.5(GOSR2):c.266A>G (p.His89Arg)
|
rs1598989011
|
0.00001
|
NM_004287.5(GOSR2):c.28A>G (p.Lys10Glu)
|
rs1278419518
|
0.00001
|
NM_004287.5(GOSR2):c.29+3G>A
|
rs794726915
|
0.00001
|
NM_004287.5(GOSR2):c.331A>G (p.Thr111Ala)
|
rs780448159
|
0.00001
|
NM_004287.5(GOSR2):c.336C>T (p.Asn112=)
|
rs755211944
|
0.00001
|
NM_004287.5(GOSR2):c.358A>G (p.Met120Val)
|
rs769454681
|
0.00001
|
NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys)
|
rs374613085
|
0.00001
|
NM_004287.5(GOSR2):c.371T>C (p.Leu124Pro)
|
rs1189596801
|
0.00001
|
NM_004287.5(GOSR2):c.451C>G (p.Leu151Val)
|
rs756144831
|
0.00001
|
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val)
|
rs772342696
|
0.00001
|
NM_004287.5(GOSR2):c.553C>T (p.Arg185Trp)
|
rs771037415
|
0.00001
|
NM_004287.5(GOSR2):c.55A>G (p.Met19Val)
|
rs770329469
|
0.00001
|
NM_004287.5(GOSR2):c.56T>C (p.Met19Thr)
|
rs374861039
|
0.00001
|
NM_004287.5(GOSR2):c.77A>G (p.Asp26Gly)
|
rs773543394
|
0.00001
|
NM_004287.5(GOSR2):c.94+4A>G
|
rs796052540
|
0.00001
|
NM_004408.4(DNM1):c.103G>T (p.Ala35Ser)
|
rs1404767209
|
0.00001
|
NM_004408.4(DNM1):c.1199C>T (p.Thr400Met)
|
rs750618124
|
0.00001
|
NM_004408.4(DNM1):c.1268C>T (p.Pro423Leu)
|
rs1373361613
|
0.00001
|
NM_004408.4(DNM1):c.1399C>T (p.Arg467Cys)
|
rs769485700
|
0.00001
|
NM_004408.4(DNM1):c.1545+6T>C
|
rs368249222
|
0.00001
|
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg)
|
rs1333859821
|
0.00001
|
NM_004408.4(DNM1):c.2076+4C>T
|
rs374379668
|
0.00001
|
NM_004408.4(DNM1):c.2173C>T (p.Arg725Cys)
|
rs1414107946
|
0.00001
|
NM_004408.4(DNM1):c.2178C>A (p.Asp726Glu)
|
rs745835138
|
0.00001
|
NM_004408.4(DNM1):c.2423C>T (p.Ala808Val)
|
rs1474835177
|
0.00001
|
NM_004408.4(DNM1):c.2435C>A (p.Ala812Glu)
|
rs1353174747
|
0.00001
|
NM_004408.4(DNM1):c.2455C>T (p.Pro819Ser)
|
rs1131692001
|
0.00001
|
NM_004408.4(DNM1):c.2527G>A (p.Val843Ile)
|
rs1006999214
|
0.00001
|
NM_004408.4(DNM1):c.267G>T (p.Lys89Asn)
|
rs1229779896
|
0.00001
|
NM_004408.4(DNM1):c.292C>G (p.Arg98Gly)
|
rs1206732749
|
0.00001
|
NM_004408.4(DNM1):c.358A>G (p.Ile120Val)
|
rs1057520197
|
0.00001
|
NM_004408.4(DNM1):c.384C>T (p.His128=)
|
rs535527521
|
0.00001
|
NM_004408.4(DNM1):c.584C>T (p.Pro195Leu)
|
rs780514615
|
0.00001
|
NM_004408.4(DNM1):c.595C>T (p.Arg199Cys)
|
rs1485891906
|
0.00001
|
NM_004408.4(DNM1):c.650G>A (p.Arg217His)
|
rs753953686
|
0.00001
|
NM_004408.4(DNM1):c.695T>C (p.Ile232Thr)
|
rs766504829
|
0.00001
|
NM_004408.4(DNM1):c.775T>C (p.Phe259Leu)
|
rs1431736054
|
0.00001
|
NM_004408.4(DNM1):c.827A>G (p.Tyr276Cys)
|
rs752917058
|
0.00001
|
NM_004408.4(DNM1):c.890G>A (p.Arg297Gln)
|
rs1321080189
|
0.00001
|
NM_004408.4(DNM1):c.946A>G (p.Asn316Asp)
|
rs1214581005
|
0.00001
|
NM_005045.4(RELN):c.1009G>A (p.Glu337Lys)
|
rs560655563
|
0.00001
|
NM_005045.4(RELN):c.10120A>G (p.Ile3374Val)
|
rs752768228
|
0.00001
|
NM_005045.4(RELN):c.10123G>A (p.Ala3375Thr)
|
rs759744782
|
0.00001
|
NM_005045.4(RELN):c.10131C>G (p.His3377Gln)
|
rs767876947
|
0.00001
|
NM_005045.4(RELN):c.10157A>G (p.Gln3386Arg)
|
rs1562841823
|
0.00001
|
NM_005045.4(RELN):c.10177C>T (p.Pro3393Ser)
|
rs771869485
|
0.00001
|
NM_005045.4(RELN):c.10190G>A (p.Arg3397Gln)
|
rs866584196
|
0.00001
|
NM_005045.4(RELN):c.10210C>T (p.Arg3404Cys)
|
rs772932844
|
0.00001
|
NM_005045.4(RELN):c.10232A>G (p.Asn3411Ser)
|
rs747044548
|
0.00001
|
NM_005045.4(RELN):c.10288A>C (p.Thr3430Pro)
|
rs1392502152
|
0.00001
|
NM_005045.4(RELN):c.10292G>A (p.Arg3431His)
|
rs1442266027
|
0.00001
|
NM_005045.4(RELN):c.10372C>T (p.Arg3458Ter)
|
rs866898263
|
0.00001
|
NM_005045.4(RELN):c.1189G>A (p.Glu397Lys)
|
rs1554402135
|
0.00001
|
NM_005045.4(RELN):c.1193G>A (p.Gly398Asp)
|
rs766992224
|
0.00001
|
NM_005045.4(RELN):c.1252G>A (p.Glu418Lys)
|
rs983845835
|
0.00001
|
NM_005045.4(RELN):c.127C>A (p.His43Asn)
|
rs369522512
|
0.00001
|
NM_005045.4(RELN):c.1290A>G (p.Gly430=)
|
rs750986647
|
0.00001
|
NM_005045.4(RELN):c.1302G>C (p.Leu434Phe)
|
rs1338264030
|
0.00001
|
NM_005045.4(RELN):c.1435G>T (p.Val479Leu)
|
rs1220962945
|
0.00001
|
NM_005045.4(RELN):c.1499T>C (p.Ile500Thr)
|
rs759633233
|
0.00001
|
NM_005045.4(RELN):c.1517A>T (p.His506Leu)
|
rs375542264
|
0.00001
|
NM_005045.4(RELN):c.1532C>T (p.Thr511Ile)
|
rs372928932
|
0.00001
|
NM_005045.4(RELN):c.1588G>A (p.Glu530Lys)
|
rs745368912
|
0.00001
|
NM_005045.4(RELN):c.163G>A (p.Val55Met)
|
rs753619762
|
0.00001
|
NM_005045.4(RELN):c.1688T>G (p.Val563Gly)
|
rs1832944514
|
0.00001
|
NM_005045.4(RELN):c.1759A>G (p.Asn587Asp)
|
rs1051169273
|
0.00001
|
NM_005045.4(RELN):c.1763+3A>G
|
rs371095209
|
0.00001
|
NM_005045.4(RELN):c.1769G>C (p.Ser590Thr)
|
rs779939013
|
0.00001
|
NM_005045.4(RELN):c.1820A>G (p.Glu607Gly)
|
rs1554397636
|
0.00001
|
NM_005045.4(RELN):c.1846C>T (p.Pro616Ser)
|
rs1460850066
|
0.00001
|
NM_005045.4(RELN):c.1892G>A (p.Gly631Glu)
|
rs398124190
|
0.00001
|
NM_005045.4(RELN):c.1893-3C>T
|
rs1214133012
|
0.00001
|
NM_005045.4(RELN):c.1906A>G (p.Thr636Ala)
|
rs756344611
|
0.00001
|
NM_005045.4(RELN):c.1970C>T (p.Pro657Leu)
|
rs1325531129
|
0.00001
|
NM_005045.4(RELN):c.1975C>A (p.Leu659Ile)
|
rs199851352
|
0.00001
|
NM_005045.4(RELN):c.2053A>G (p.Thr685Ala)
|
rs779358126
|
0.00001
|
NM_005045.4(RELN):c.2171A>G (p.His724Arg)
|
rs746516208
|
0.00001
|
NM_005045.4(RELN):c.226+4G>C
|
rs749125854
|
0.00001
|
NM_005045.4(RELN):c.232A>G (p.Ile78Val)
|
rs768499951
|
0.00001
|
NM_005045.4(RELN):c.2351C>T (p.Thr784Met)
|
rs144235468
|
0.00001
|
NM_005045.4(RELN):c.2425C>T (p.Leu809Phe)
|
rs1452060313
|
0.00001
|
NM_005045.4(RELN):c.2465+5G>T
|
rs772717691
|
0.00001
|
NM_005045.4(RELN):c.2603G>A (p.Ser868Asn)
|
rs926955647
|
0.00001
|
NM_005045.4(RELN):c.261G>T (p.Leu87Phe)
|
rs779347175
|
0.00001
|
NM_005045.4(RELN):c.2725G>T (p.Ala909Ser)
|
rs1167526294
|
0.00001
|
NM_005045.4(RELN):c.2860A>G (p.Thr954Ala)
|
rs1471834146
|
0.00001
|
NM_005045.4(RELN):c.293T>C (p.Val98Ala)
|
rs1471699014
|
0.00001
|
NM_005045.4(RELN):c.3005C>G (p.Thr1002Ser)
|
rs1376812440
|
0.00001
|
NM_005045.4(RELN):c.3008+6A>G
|
rs1229943471
|
0.00001
|
NM_005045.4(RELN):c.3022C>T (p.Arg1008Cys)
|
rs774777246
|
0.00001
|
NM_005045.4(RELN):c.3107T>A (p.Met1036Lys)
|
rs1831762757
|
0.00001
|
NM_005045.4(RELN):c.3109T>G (p.Cys1037Gly)
|
rs1262470607
|
0.00001
|
NM_005045.4(RELN):c.3146+5G>A
|
rs1468648706
|
0.00001
|
NM_005045.4(RELN):c.3164A>G (p.Gln1055Arg)
|
rs1455749393
|
0.00001
|
NM_005045.4(RELN):c.331G>A (p.Gly111Arg)
|
rs760704088
|
0.00001
|
NM_005045.4(RELN):c.3412G>A (p.Gly1138Arg)
|
rs772114071
|
0.00001
|
NM_005045.4(RELN):c.3527T>G (p.Phe1176Cys)
|
rs755937551
|
0.00001
|
NM_005045.4(RELN):c.3540-20A>G
|
rs1390416603
|
0.00001
|
NM_005045.4(RELN):c.356A>G (p.Gln119Arg)
|
rs770981899
|
0.00001
|
NM_005045.4(RELN):c.3617G>A (p.Gly1206Glu)
|
rs866737719
|
0.00001
|
NM_005045.4(RELN):c.3622G>A (p.Asp1208Asn)
|
rs1230772547
|
0.00001
|
NM_005045.4(RELN):c.3638C>T (p.Ala1213Val)
|
rs750474453
|
0.00001
|
NM_005045.4(RELN):c.3664G>A (p.Glu1222Lys)
|
rs762404220
|
0.00001
|
NM_005045.4(RELN):c.3700A>G (p.Thr1234Ala)
|
rs758305250
|
0.00001
|
NM_005045.4(RELN):c.3706C>T (p.Pro1236Ser)
|
rs750302438
|
0.00001
|
NM_005045.4(RELN):c.3789G>A (p.Met1263Ile)
|
rs778006321
|
0.00001
|
NM_005045.4(RELN):c.3805T>C (p.Phe1269Leu)
|
rs794727441
|
0.00001
|
NM_005045.4(RELN):c.3809G>T (p.Cys1270Phe)
|
rs1831475457
|
0.00001
|
NM_005045.4(RELN):c.3872G>A (p.Arg1291Gln)
|
rs774998117
|
0.00001
|
NM_005045.4(RELN):c.3920T>C (p.Ile1307Thr)
|
rs1372349812
|
0.00001
|
NM_005045.4(RELN):c.3980C>T (p.Ala1327Val)
|
rs959509012
|
0.00001
|
NM_005045.4(RELN):c.4019C>T (p.Pro1340Leu)
|
rs754927978
|
0.00001
|
NM_005045.4(RELN):c.4176C>A (p.Ser1392Arg)
|
rs765007573
|
0.00001
|
NM_005045.4(RELN):c.4195C>G (p.Pro1399Ala)
|
rs759880105
|
0.00001
|
NM_005045.4(RELN):c.4369A>C (p.Lys1457Gln)
|
rs890007891
|
0.00001
|
NM_005045.4(RELN):c.4457A>G (p.Asn1486Ser)
|
rs202161592
|
0.00001
|
NM_005045.4(RELN):c.4484C>T (p.Thr1495Met)
|
rs369404310
|
0.00001
|
NM_005045.4(RELN):c.449C>T (p.Ala150Val)
|
rs752566456
|
0.00001
|
NM_005045.4(RELN):c.4564A>T (p.Ile1522Phe)
|
rs757322020
|
0.00001
|
NM_005045.4(RELN):c.4647G>C (p.Leu1549Phe)
|
rs769890427
|
0.00001
|
NM_005045.4(RELN):c.4737A>G (p.Gln1579=)
|
rs768948021
|
0.00001
|
NM_005045.4(RELN):c.4739C>T (p.Pro1580Leu)
|
rs1488556290
|
0.00001
|
NM_005045.4(RELN):c.4840A>G (p.Ile1614Val)
|
rs758157213
|
0.00001
|
NM_005045.4(RELN):c.4904T>G (p.Met1635Arg)
|
rs779701633
|
0.00001
|
NM_005045.4(RELN):c.491G>A (p.Arg164Gln)
|
rs1193525098
|
0.00001
|
NM_005045.4(RELN):c.4951G>T (p.Ala1651Ser)
|
rs755003399
|
0.00001
|
NM_005045.4(RELN):c.5067C>A (p.Asn1689Lys)
|
rs1030981974
|
0.00001
|
NM_005045.4(RELN):c.5075A>G (p.Lys1692Arg)
|
rs1001125058
|
0.00001
|
NM_005045.4(RELN):c.5117T>C (p.Ile1706Thr)
|
rs1156996317
|
0.00001
|
NM_005045.4(RELN):c.5135C>T (p.Thr1712Met)
|
rs1056128260
|
0.00001
|
NM_005045.4(RELN):c.5166C>G (p.Phe1722Leu)
|
rs886061856
|
0.00001
|
NM_005045.4(RELN):c.5179C>T (p.Arg1727Trp)
|
rs757649565
|
0.00001
|
NM_005045.4(RELN):c.5227T>C (p.Phe1743Leu)
|
rs773427684
|
0.00001
|
NM_005045.4(RELN):c.525G>C (p.Gln175His)
|
rs369997646
|
0.00001
|
NM_005045.4(RELN):c.5371G>A (p.Gly1791Arg)
|
rs1422208791
|
0.00001
|
NM_005045.4(RELN):c.5377T>G (p.Tyr1793Asp)
|
rs760957004
|
0.00001
|
NM_005045.4(RELN):c.5378A>G (p.Tyr1793Cys)
|
rs775962499
|
0.00001
|
NM_005045.4(RELN):c.5390T>C (p.Val1797Ala)
|
rs1462688546
|
0.00001
|
NM_005045.4(RELN):c.5489G>A (p.Gly1830Asp)
|
rs1255854701
|
0.00001
|
NM_005045.4(RELN):c.5630C>A (p.Ser1877Tyr)
|
rs1253194353
|
0.00001
|
NM_005045.4(RELN):c.568C>G (p.Pro190Ala)
|
rs1200261994
|
0.00001
|
NM_005045.4(RELN):c.5717T>C (p.Ile1906Thr)
|
rs772921952
|
0.00001
|
NM_005045.4(RELN):c.5744A>G (p.Tyr1915Cys)
|
rs1373786748
|
0.00001
|
NM_005045.4(RELN):c.5747C>G (p.Thr1916Ser)
|
rs1223552734
|
0.00001
|
NM_005045.4(RELN):c.5756C>A (p.Thr1919Asn)
|
rs534336272
|
0.00001
|
NM_005045.4(RELN):c.578-20A>G
|
rs370595753
|
0.00001
|
NM_005045.4(RELN):c.5932A>G (p.Ile1978Val)
|
rs778268821
|
0.00001
|
NM_005045.4(RELN):c.5936G>A (p.Gly1979Asp)
|
rs1383865192
|
0.00001
|
NM_005045.4(RELN):c.5942A>G (p.Tyr1981Cys)
|
rs979289169
|
0.00001
|
NM_005045.4(RELN):c.5965G>A (p.Ala1989Thr)
|
rs1233107226
|
0.00001
|
NM_005045.4(RELN):c.6072+4C>G
|
rs369869975
|
0.00001
|
NM_005045.4(RELN):c.6107C>T (p.Ala2036Val)
|
rs368438329
|
0.00001
|
NM_005045.4(RELN):c.6157C>T (p.Leu2053Phe)
|
rs779142703
|
0.00001
|
NM_005045.4(RELN):c.6256G>A (p.Gly2086Ser)
|
rs752958202
|
0.00001
|
NM_005045.4(RELN):c.6398A>C (p.Glu2133Ala)
|
rs1349996046
|
0.00001
|
NM_005045.4(RELN):c.6440A>C (p.Lys2147Thr)
|
rs1184255602
|
0.00001
|
NM_005045.4(RELN):c.6467G>T (p.Gly2156Val)
|
rs1830260428
|
0.00001
|
NM_005045.4(RELN):c.6512A>G (p.Asp2171Gly)
|
rs754745320
|
0.00001
|
NM_005045.4(RELN):c.6597T>A (p.Ser2199Arg)
|
rs1353952617
|
0.00001
|
NM_005045.4(RELN):c.6607C>A (p.Leu2203Ile)
|
rs1296074586
|
0.00001
|
NM_005045.4(RELN):c.673T>G (p.Cys225Gly)
|
rs371731772
|
0.00001
|
NM_005045.4(RELN):c.6827T>C (p.Ile2276Thr)
|
rs748141276
|
0.00001
|
NM_005045.4(RELN):c.6869G>A (p.Arg2290His)
|
rs1035646248
|
0.00001
|
NM_005045.4(RELN):c.6950T>C (p.Ile2317Thr)
|
rs1469133138
|
0.00001
|
NM_005045.4(RELN):c.7014C>G (p.His2338Gln)
|
rs1562879189
|
0.00001
|
NM_005045.4(RELN):c.7055A>T (p.Asp2352Val)
|
rs143688278
|
0.00001
|
NM_005045.4(RELN):c.707A>G (p.His236Arg)
|
rs771005621
|
0.00001
|
NM_005045.4(RELN):c.7093G>A (p.Val2365Met)
|
rs756299161
|
0.00001
|
NM_005045.4(RELN):c.7108G>A (p.Val2370Ile)
|
rs752238353
|
0.00001
|
NM_005045.4(RELN):c.7181C>T (p.Ala2394Val)
|
rs762035577
|
0.00001
|
NM_005045.4(RELN):c.7254T>A (p.Asn2418Lys)
|
rs1307372831
|
0.00001
|
NM_005045.4(RELN):c.7256T>G (p.Val2419Gly)
|
rs777442978
|
0.00001
|
NM_005045.4(RELN):c.7267C>T (p.Arg2423Cys)
|
rs1165686675
|
0.00001
|
NM_005045.4(RELN):c.737A>G (p.Tyr246Cys)
|
rs779269833
|
0.00001
|
NM_005045.4(RELN):c.7489G>A (p.Val2497Ile)
|
rs375694777
|
0.00001
|
NM_005045.4(RELN):c.7498G>C (p.Glu2500Gln)
|
rs1554369707
|
0.00001
|
NM_005045.4(RELN):c.74C>T (p.Ala25Val)
|
rs757957218
|
0.00001
|
NM_005045.4(RELN):c.7668+3G>T
|
rs748053614
|
0.00001
|
NM_005045.4(RELN):c.7669G>A (p.Gly2557Ser)
|
rs560581732
|
0.00001
|
NM_005045.4(RELN):c.7760C>A (p.Pro2587Gln)
|
rs1455056584
|
0.00001
|
NM_005045.4(RELN):c.7768C>T (p.Arg2590Cys)
|
rs1313455580
|
0.00001
|
NM_005045.4(RELN):c.7769G>A (p.Arg2590His)
|
rs541813551
|
0.00001
|
NM_005045.4(RELN):c.7897G>A (p.Glu2633Lys)
|
rs958494439
|
0.00001
|
NM_005045.4(RELN):c.7963A>G (p.Ile2655Val)
|
rs1829536442
|
0.00001
|
NM_005045.4(RELN):c.8011C>G (p.Leu2671Val)
|
rs761934008
|
0.00001
|
NM_005045.4(RELN):c.8038C>T (p.Pro2680Ser)
|
rs777417208
|
0.00001
|
NM_005045.4(RELN):c.8095A>G (p.Met2699Val)
|
rs747867154
|
0.00001
|
NM_005045.4(RELN):c.8182G>A (p.Gly2728Ser)
|
rs1463489255
|
0.00001
|
NM_005045.4(RELN):c.8248A>C (p.Thr2750Pro)
|
rs1168374024
|
0.00001
|
NM_005045.4(RELN):c.8269T>C (p.Phe2757Leu)
|
rs560897786
|
0.00001
|
NM_005045.4(RELN):c.8347G>A (p.Gly2783Ser)
|
rs794727997
|
0.00001
|
NM_005045.4(RELN):c.8363A>G (p.Tyr2788Cys)
|
rs1259871212
|
0.00001
|
NM_005045.4(RELN):c.8378G>A (p.Cys2793Tyr)
|
rs774015567
|
0.00001
|
NM_005045.4(RELN):c.8389G>A (p.Asp2797Asn)
|
rs765919904
|
0.00001
|
NM_005045.4(RELN):c.8490-3T>C
|
rs373564931
|
0.00001
|
NM_005045.4(RELN):c.8528T>C (p.Met2843Thr)
|
rs1391842678
|
0.00001
|
NM_005045.4(RELN):c.8542G>A (p.Asp2848Asn)
|
rs147624295
|
0.00001
|
NM_005045.4(RELN):c.8667+6G>C
|
rs770342200
|
0.00001
|
NM_005045.4(RELN):c.8672T>C (p.Phe2891Ser)
|
rs752516448
|
0.00001
|
NM_005045.4(RELN):c.8797A>G (p.Thr2933Ala)
|
rs1172953100
|
0.00001
|
NM_005045.4(RELN):c.8884A>G (p.Met2962Val)
|
rs772961648
|
0.00001
|
NM_005045.4(RELN):c.88T>A (p.Tyr30Asn)
|
rs764175823
|
0.00001
|
NM_005045.4(RELN):c.9019C>T (p.Leu3007Phe)
|
rs752135641
|
0.00001
|
NM_005045.4(RELN):c.9086A>G (p.Asn3029Ser)
|
rs886044056
|
0.00001
|
NM_005045.4(RELN):c.9113G>A (p.Arg3038His)
|
rs1828848847
|
0.00001
|
NM_005045.4(RELN):c.9220A>T (p.Ser3074Cys)
|
rs774630932
|
0.00001
|
NM_005045.4(RELN):c.9350G>C (p.Gly3117Ala)
|
rs376611357
|
0.00001
|
NM_005045.4(RELN):c.9369+6G>C
|
rs770317549
|
0.00001
|
NM_005045.4(RELN):c.940T>C (p.Tyr314His)
|
rs763000457
|
0.00001
|
NM_005045.4(RELN):c.9664A>G (p.Ile3222Val)
|
rs142638365
|
0.00001
|
NM_005045.4(RELN):c.9669C>G (p.Asp3223Glu)
|
rs1442238479
|
0.00001
|
NM_005045.4(RELN):c.9751G>A (p.Glu3251Lys)
|
rs376520049
|
0.00001
|
NM_005045.4(RELN):c.9832G>C (p.Val3278Leu)
|
rs1381921892
|
0.00001
|
NM_005045.4(RELN):c.9838G>A (p.Glu3280Lys)
|
rs1354755133
|
0.00001
|
NM_005097.4(LGI1):c.1040T>C (p.Val347Ala)
|
rs1589775794
|
0.00001
|
NM_005097.4(LGI1):c.1060G>T (p.Ala354Ser)
|
rs1438643979
|
0.00001
|
NM_005097.4(LGI1):c.1096G>A (p.Gly366Arg)
|
rs1394822961
|
0.00001
|
NM_005097.4(LGI1):c.1129T>C (p.Tyr377His)
|
rs758203843
|
0.00001
|
NM_005097.4(LGI1):c.113C>G (p.Ala38Gly)
|
rs768415373
|
0.00001
|
NM_005097.4(LGI1):c.1210A>T (p.Ser404Cys)
|
rs1564853070
|
0.00001
|
NM_005097.4(LGI1):c.1240A>G (p.Asn414Asp)
|
rs775893967
|
0.00001
|
NM_005097.4(LGI1):c.1254A>T (p.Gln418His)
|
rs531444070
|
0.00001
|
NM_005097.4(LGI1):c.1267C>A (p.Gln423Lys)
|
rs1337103614
|
0.00001
|
NM_005097.4(LGI1):c.1285A>G (p.Met429Val)
|
rs147473519
|
0.00001
|
NM_005097.4(LGI1):c.1330G>A (p.Val444Met)
|
rs772468388
|
0.00001
|
NM_005097.4(LGI1):c.1331T>A (p.Val444Glu)
|
rs775901528
|
0.00001
|
NM_005097.4(LGI1):c.133G>A (p.Val45Met)
|
rs755563423
|
0.00001
|
NM_005097.4(LGI1):c.1391C>T (p.Ser464Leu)
|
rs747229730
|
0.00001
|
NM_005097.4(LGI1):c.158C>T (p.Ala53Val)
|
rs778829709
|
0.00001
|
NM_005097.4(LGI1):c.269C>T (p.Thr90Met)
|
rs796052692
|
0.00001
|
NM_005097.4(LGI1):c.287+3G>A
|
rs1370527260
|
0.00001
|
NM_005097.4(LGI1):c.360A>G (p.Leu120=)
|
rs773488211
|
0.00001
|
NM_005097.4(LGI1):c.432G>A (p.Leu144=)
|
rs920223409
|
0.00001
|
NM_005097.4(LGI1):c.46C>G (p.Leu16Val)
|
rs777973395
|
0.00001
|
NM_005097.4(LGI1):c.505G>A (p.Asp169Asn)
|
rs1207210364
|
0.00001
|
NM_005097.4(LGI1):c.625C>T (p.Arg209Cys)
|
rs751825973
|
0.00001
|
NM_005097.4(LGI1):c.647C>T (p.Ser216Leu)
|
rs1318179573
|
0.00001
|
NM_005097.4(LGI1):c.651G>A (p.Lys217=)
|
rs1292925776
|
0.00001
|
NM_005097.4(LGI1):c.673+5T>C
|
rs1162193591
|
0.00001
|
NM_005097.4(LGI1):c.680C>T (p.Ala227Val)
|
rs750984349
|
0.00001
|
NM_005097.4(LGI1):c.715A>G (p.Ile239Val)
|
rs1234927321
|
0.00001
|
NM_005097.4(LGI1):c.757G>A (p.Ala253Thr)
|
rs1440639718
|
0.00001
|
NM_005097.4(LGI1):c.836C>G (p.Thr279Arg)
|
rs1159639109
|
0.00001
|
NM_005097.4(LGI1):c.887A>G (p.Tyr296Cys)
|
rs1434032341
|
0.00001
|
NM_005097.4(LGI1):c.989G>A (p.Arg330Gln)
|
rs745852819
|
0.00001
|
NM_005097.4(LGI1):c.998A>G (p.Asn333Ser)
|
rs796052698
|
0.00001
|
NM_005506.4(SCARB2):c.1015T>C (p.Phe339Leu)
|
rs780194648
|
0.00001
|
NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys)
|
rs559054010
|
0.00001
|
NM_005506.4(SCARB2):c.1067T>C (p.Met356Thr)
|
rs1010410881
|
0.00001
|
NM_005506.4(SCARB2):c.117+15G>T
|
rs762251387
|
0.00001
|
NM_005506.4(SCARB2):c.118-3T>G
|
rs755638994
|
0.00001
|
NM_005506.4(SCARB2):c.1187+2dup
|
rs727502783
|
0.00001
|
NM_005506.4(SCARB2):c.1194G>A (p.Thr398=)
|
rs574498998
|
0.00001
|
NM_005506.4(SCARB2):c.1208C>T (p.Thr403Ile)
|
rs770343701
|
0.00001
|
NM_005506.4(SCARB2):c.1239+8C>G
|
rs369265725
|
0.00001
|
NM_005506.4(SCARB2):c.1282A>G (p.Met428Val)
|
rs746370059
|
0.00001
|
NM_005506.4(SCARB2):c.1302C>G (p.Ile434Met)
|
rs1035540343
|
0.00001
|
NM_005506.4(SCARB2):c.1327A>G (p.Met443Val)
|
rs376806999
|
0.00001
|
NM_005506.4(SCARB2):c.1329G>A (p.Met443Ile)
|
rs1232863838
|
0.00001
|
NM_005506.4(SCARB2):c.1331C>T (p.Ala444Val)
|
rs773957659
|
0.00001
|
NM_005506.4(SCARB2):c.1339G>C (p.Val447Leu)
|
rs1350213956
|
0.00001
|
NM_005506.4(SCARB2):c.1369G>C (p.Ala457Pro)
|
rs757381866
|
0.00001
|
NM_005506.4(SCARB2):c.1382_1383del (p.Gln461fs)
|
rs1233094134
|
0.00001
|
NM_005506.4(SCARB2):c.1403C>T (p.Thr468Ile)
|
rs796052948
|
0.00001
|
NM_005506.4(SCARB2):c.1416A>C (p.Arg472Ser)
|
rs1191433680
|
0.00001
|
NM_005506.4(SCARB2):c.203A>G (p.Asn68Ser)
|
rs1394046858
|
0.00001
|
NM_005506.4(SCARB2):c.245G>A (p.Arg82Gln)
|
rs1422181706
|
0.00001
|
NM_005506.4(SCARB2):c.263C>T (p.Pro88Leu)
|
rs1732696835
|
0.00001
|
NM_005506.4(SCARB2):c.350A>G (p.Tyr117Cys)
|
rs754341111
|
0.00001
|
NM_005506.4(SCARB2):c.377G>C (p.Gly126Ala)
|
rs776680365
|
0.00001
|
NM_005506.4(SCARB2):c.463A>G (p.Ile155Val)
|
rs772434203
|
0.00001
|
NM_005506.4(SCARB2):c.469G>A (p.Glu157Lys)
|
rs760128942
|
0.00001
|
NM_005506.4(SCARB2):c.593A>G (p.Tyr198Cys)
|
rs1018285383
|
0.00001
|
NM_005506.4(SCARB2):c.612+5G>A
|
rs1019363350
|
0.00001
|
NM_005506.4(SCARB2):c.638A>T (p.Tyr213Phe)
|
rs751953388
|
0.00001
|
NM_005506.4(SCARB2):c.664T>C (p.Tyr222His)
|
rs1732253776
|
0.00001
|
NM_005506.4(SCARB2):c.704+5G>A
|
rs774271963
|
0.00001
|
NM_005506.4(SCARB2):c.705-7A>G
|
rs1217073681
|
0.00001
|
NM_005506.4(SCARB2):c.709C>G (p.Leu237Val)
|
rs200332825
|
0.00001
|
NM_005506.4(SCARB2):c.716G>T (p.Trp239Leu)
|
rs755176349
|
0.00001
|
NM_005506.4(SCARB2):c.766T>C (p.Phe256Leu)
|
rs1241257632
|
0.00001
|
NM_005506.4(SCARB2):c.787G>C (p.Asp263His)
|
rs759410840
|
0.00001
|
NM_005506.4(SCARB2):c.79C>T (p.Arg27Trp)
|
rs1466314804
|
0.00001
|
NM_005506.4(SCARB2):c.866G>A (p.Gly289Glu)
|
rs777478545
|
0.00001
|
NM_005506.4(SCARB2):c.953G>T (p.Cys318Phe)
|
rs148780369
|
0.00001
|
NM_005670.4(EPM2A):c.145G>A (p.Asp49Asn)
|
rs1367012950
|
0.00001
|
NM_005670.4(EPM2A):c.149G>T (p.Gly50Val)
|
rs796052422
|
0.00001
|
NM_005670.4(EPM2A):c.170C>T (p.Pro57Leu)
|
rs1229724993
|
0.00001
|
NM_005670.4(EPM2A):c.181C>G (p.Leu61Val)
|
rs563875151
|
0.00001
|
NM_005670.4(EPM2A):c.193G>A (p.Glu65Lys)
|
rs796052425
|
0.00001
|
NM_005670.4(EPM2A):c.212C>A (p.Ala71Glu)
|
rs1263035227
|
0.00001
|
NM_005670.4(EPM2A):c.215C>T (p.Ala72Val)
|
rs1284392729
|
0.00001
|
NM_005670.4(EPM2A):c.223G>A (p.Gly75Arg)
|
rs1184012721
|
0.00001
|
NM_005670.4(EPM2A):c.262T>C (p.Phe88Leu)
|
rs1463000703
|
0.00001
|
NM_005670.4(EPM2A):c.271C>T (p.Arg91Trp)
|
rs752244019
|
0.00001
|
NM_005670.4(EPM2A):c.272G>A (p.Arg91Gln)
|
rs767203075
|
0.00001
|
NM_005670.4(EPM2A):c.278C>T (p.Pro93Leu)
|
rs1239406349
|
0.00001
|
NM_005670.4(EPM2A):c.289C>G (p.Leu97Val)
|
rs1398721266
|
0.00001
|
NM_005670.4(EPM2A):c.301+4T>C
|
rs761970395
|
0.00001
|
NM_005670.4(EPM2A):c.301+5T>C
|
rs776655093
|
0.00001
|
NM_005670.4(EPM2A):c.305A>G (p.Asn102Ser)
|
rs1448945231
|
0.00001
|
NM_005670.4(EPM2A):c.323G>A (p.Arg108His)
|
rs202234583
|
0.00001
|
NM_005670.4(EPM2A):c.332C>G (p.Thr111Ser)
|
rs1480939817
|
0.00001
|
NM_005670.4(EPM2A):c.335A>G (p.Tyr112Cys)
|
rs757199020
|
0.00001
|
NM_005670.4(EPM2A):c.397A>G (p.Thr133Ala)
|
rs773728573
|
0.00001
|
NM_005670.4(EPM2A):c.427A>G (p.Thr143Ala)
|
rs144204777
|
0.00001
|
NM_005670.4(EPM2A):c.437A>T (p.Tyr146Phe)
|
rs1780893400
|
0.00001
|
NM_005670.4(EPM2A):c.43G>A (p.Gly15Ser)
|
rs1310207444
|
0.00001
|
NM_005670.4(EPM2A):c.449C>T (p.Ala150Val)
|
rs753781421
|
0.00001
|
NM_005670.4(EPM2A):c.496C>G (p.Leu166Val)
|
rs147645370
|
0.00001
|
NM_005670.4(EPM2A):c.511C>T (p.Arg171Cys)
|
rs371974399
|
0.00001
|
NM_005670.4(EPM2A):c.524A>G (p.His175Arg)
|
rs1264840627
|
0.00001
|
NM_005670.4(EPM2A):c.569T>A (p.Met190Lys)
|
rs191406622
|
0.00001
|
NM_005670.4(EPM2A):c.600G>T (p.Gln200His)
|
rs142658692
|
0.00001
|
NM_005670.4(EPM2A):c.619C>T (p.Arg207Cys)
|
rs186710183
|
0.00001
|
NM_005670.4(EPM2A):c.676T>G (p.Leu226Val)
|
rs754313309
|
0.00001
|
NM_005670.4(EPM2A):c.70G>T (p.Gly24Trp)
|
rs1554269710
|
0.00001
|
NM_005670.4(EPM2A):c.719-2A>T
|
rs772082648
|
0.00001
|
NM_005670.4(EPM2A):c.814C>T (p.Arg272Cys)
|
rs765820100
|
0.00001
|
NM_005670.4(EPM2A):c.824C>T (p.Ala275Val)
|
rs1027738243
|
0.00001
|
NM_005670.4(EPM2A):c.935G>A (p.Arg312Gln)
|
rs762852066
|
0.00001
|
NM_005670.4(EPM2A):c.937G>A (p.Ala313Thr)
|
rs189479757
|
0.00001
|
NM_005670.4(EPM2A):c.970G>T (p.Val324Phe)
|
rs941854726
|
0.00001
|
NM_005670.4(EPM2A):c.973C>T (p.Arg325Cys)
|
rs746413047
|
0.00001
|
NM_005670.4(EPM2A):c.974G>A (p.Arg325His)
|
rs777308612
|
0.00001
|
NM_014467.3(SRPX2):c.1028G>A (p.Arg343Gln)
|
rs1060502322
|
0.00001
|
NM_014467.3(SRPX2):c.1133T>C (p.Ile378Thr)
|
rs1483904597
|
0.00001
|
NM_014467.3(SRPX2):c.1238G>A (p.Arg413His)
|
rs761966457
|
0.00001
|
NM_014467.3(SRPX2):c.1255G>A (p.Val419Met)
|
rs797046012
|
0.00001
|
NM_014467.3(SRPX2):c.161G>A (p.Arg54Gln)
|
rs761225832
|
0.00001
|
NM_014467.3(SRPX2):c.174G>C (p.Trp58Cys)
|
rs1354537844
|
0.00001
|
NM_014467.3(SRPX2):c.202G>A (p.Glu68Lys)
|
rs747055996
|
0.00001
|
NM_014467.3(SRPX2):c.370G>A (p.Ala124Thr)
|
rs746716311
|
0.00001
|
NM_014467.3(SRPX2):c.371C>T (p.Ala124Val)
|
rs1277274875
|
0.00001
|
NM_014467.3(SRPX2):c.431G>A (p.Arg144His)
|
rs758942073
|
0.00001
|
NM_014467.3(SRPX2):c.57G>A (p.Pro19=)
|
rs192241917
|
0.00001
|
NM_014467.3(SRPX2):c.646G>A (p.Gly216Ser)
|
rs758845090
|
0.00001
|
NM_014467.3(SRPX2):c.742T>C (p.Tyr248His)
|
rs1208754092
|
0.00001
|
NM_015973.5(GAL):c.13A>G (p.Ser5Gly)
|
rs749996027
|
0.00001
|
NM_015973.5(GAL):c.178C>T (p.Leu60Phe)
|
rs527905700
|
0.00001
|
NM_015973.5(GAL):c.191G>A (p.Arg64Gln)
|
rs372372622
|
0.00001
|
NM_015973.5(GAL):c.263G>A (p.Arg88His)
|
rs778530092
|
0.00001
|
NM_015973.5(GAL):c.28G>A (p.Ala10Thr)
|
rs766211433
|
0.00001
|
NM_015973.5(GAL):c.337G>A (p.Ala113Thr)
|
rs762637870
|
0.00001
|
NM_015973.5(GAL):c.340G>A (p.Ala114Thr)
|
rs540782765
|
0.00001
|
NM_018100.4(EFHC1):c.1054C>T (p.Arg352Ter)
|
rs201118016
|
0.00001
|
NM_018100.4(EFHC1):c.1055G>A (p.Arg352Gln)
|
rs769745156
|
0.00001
|
NM_018100.4(EFHC1):c.1098del (p.Ile367fs)
|
rs1181131881
|
0.00001
|
NM_018100.4(EFHC1):c.110A>G (p.Tyr37Cys)
|
rs988250483
|
0.00001
|
NM_018100.4(EFHC1):c.1110C>T (p.Ser370=)
|
rs757987501
|
0.00001
|
NM_018100.4(EFHC1):c.1115G>A (p.Arg372Gln)
|
rs535905126
|
0.00001
|
NM_018100.4(EFHC1):c.1182del (p.Gln395fs)
|
rs753549012
|
0.00001
|
NM_018100.4(EFHC1):c.124C>T (p.Arg42Cys)
|
rs748229072
|
0.00001
|
NM_018100.4(EFHC1):c.125G>A (p.Arg42His)
|
rs773598517
|
0.00001
|
NM_018100.4(EFHC1):c.1288dup (p.Ile430fs)
|
rs752642262
|
0.00001
|
NM_018100.4(EFHC1):c.1337C>T (p.Thr446Ile)
|
rs753032457
|
0.00001
|
NM_018100.4(EFHC1):c.1373A>G (p.Asn458Ser)
|
rs1562462191
|
0.00001
|
NM_018100.4(EFHC1):c.1396T>G (p.Tyr466Asp)
|
rs373042342
|
0.00001
|
NM_018100.4(EFHC1):c.1409C>G (p.Thr470Ser)
|
rs201129694
|
0.00001
|
NM_018100.4(EFHC1):c.1443C>G (p.Asn481Lys)
|
rs186911667
|
0.00001
|
NM_018100.4(EFHC1):c.1492+1G>A
|
rs191404037
|
0.00001
|
NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr)
|
rs372520849
|
0.00001
|
NM_018100.4(EFHC1):c.1558G>A (p.Ala520Thr)
|
rs763313820
|
0.00001
|
NM_018100.4(EFHC1):c.1565A>G (p.Gln522Arg)
|
rs752066434
|
0.00001
|
NM_018100.4(EFHC1):c.1586C>A (p.Ala529Glu)
|
rs759944784
|
0.00001
|
NM_018100.4(EFHC1):c.1834G>C (p.Asp612His)
|
rs1331948538
|
0.00001
|
NM_018100.4(EFHC1):c.1835A>C (p.Asp612Ala)
|
rs765750690
|
0.00001
|
NM_018100.4(EFHC1):c.187G>A (p.Asp63Asn)
|
rs750083920
|
0.00001
|
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys)
|
rs770182350
|
0.00001
|
NM_018100.4(EFHC1):c.199A>G (p.Ser67Gly)
|
rs766220714
|
0.00001
|
NM_018100.4(EFHC1):c.248C>T (p.Ala83Val)
|
rs557599173
|
0.00001
|
NM_018100.4(EFHC1):c.290T>C (p.Leu97Pro)
|
rs1451023675
|
0.00001
|
NM_018100.4(EFHC1):c.341A>G (p.Gln114Arg)
|
rs759050400
|
0.00001
|
NM_018100.4(EFHC1):c.476G>A (p.Arg159Gln)
|
rs1277516532
|
0.00001
|
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile)
|
rs769591944
|
0.00001
|
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn)
|
rs148615781
|
0.00001
|
NM_018100.4(EFHC1):c.564A>G (p.Gln188=)
|
rs766444850
|
0.00001
|
NM_018100.4(EFHC1):c.59C>T (p.Ser20Phe)
|
rs147882603
|
0.00001
|
NM_018100.4(EFHC1):c.637A>T (p.Thr213Ser)
|
rs201379297
|
0.00001
|
NM_018100.4(EFHC1):c.663dup (p.Lys222Ter)
|
rs776734177
|
0.00001
|
NM_018100.4(EFHC1):c.66A>G (p.Lys22=)
|
rs1286302392
|
0.00001
|
NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile)
|
rs779993809
|
0.00001
|
NM_018100.4(EFHC1):c.693A>C (p.Gln231His)
|
rs375014511
|
0.00001
|
NM_018100.4(EFHC1):c.723+10A>G
|
rs754567679
|
0.00001
|
NM_018100.4(EFHC1):c.723G>A (p.Gln241=)
|
rs750912328
|
0.00001
|
NM_018100.4(EFHC1):c.761G>A (p.Ser254Asn)
|
rs144739917
|
0.00001
|
NM_018100.4(EFHC1):c.762C>T (p.Ser254=)
|
rs375851193
|
0.00001
|
NM_018100.4(EFHC1):c.797A>G (p.Tyr266Cys)
|
rs536323609
|
0.00001
|
NM_018100.4(EFHC1):c.815C>T (p.Thr272Met)
|
rs143655397
|
0.00001
|
NM_018100.4(EFHC1):c.827G>A (p.Arg276Gln)
|
rs758695181
|
0.00001
|
NM_018100.4(EFHC1):c.841C>T (p.Arg281Trp)
|
rs1172185919
|
0.00001
|
NM_018100.4(EFHC1):c.854G>A (p.Arg285Lys)
|
rs17851771
|
0.00001
|
NM_018100.4(EFHC1):c.886C>T (p.Arg296Cys)
|
rs199814370
|
0.00001
|
NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu)
|
rs201263733
|
0.00001
|
NM_018100.4(EFHC1):c.946T>G (p.Ser316Ala)
|
rs144708524
|
0.00001
|
NM_018100.4(EFHC1):c.952C>A (p.Gln318Lys)
|
rs1452409120
|
0.00001
|
NM_020822.3(KCNT1):c.1093C>T (p.Arg365Cys)
|
rs751116785
|
0.00001
|
NM_020822.3(KCNT1):c.110+5A>G
|
rs768926196
|
0.00001
|
NM_020822.3(KCNT1):c.1109C>T (p.Thr370Met)
|
rs1284049151
|
0.00001
|
NM_020822.3(KCNT1):c.1139C>T (p.Ser380Phe)
|
rs765193021
|
0.00001
|
NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn)
|
rs762752381
|
0.00001
|
NM_020822.3(KCNT1):c.1210G>A (p.Val404Met)
|
rs368174673
|
0.00001
|
NM_020822.3(KCNT1):c.1229C>T (p.Thr410Met)
|
rs954342612
|
0.00001
|
NM_020822.3(KCNT1):c.1249C>T (p.Arg417Cys)
|
rs781342838
|
0.00001
|
NM_020822.3(KCNT1):c.1336A>C (p.Lys446Gln)
|
rs144824627
|
0.00001
|
NM_020822.3(KCNT1):c.1346A>G (p.Asn449Ser)
|
rs1336529060
|
0.00001
|
NM_020822.3(KCNT1):c.1381G>C (p.Glu461Gln)
|
rs141311481
|
0.00001
|
NM_020822.3(KCNT1):c.1423G>A (p.Ala475Thr)
|
rs144956052
|
0.00001
|
NM_020822.3(KCNT1):c.143A>T (p.Asp48Val)
|
rs762875063
|
0.00001
|
NM_020822.3(KCNT1):c.1444G>A (p.Ala482Thr)
|
rs577633745
|
0.00001
|
NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile)
|
rs778483249
|
0.00001
|
NM_020822.3(KCNT1):c.1516G>A (p.Val506Met)
|
rs905524850
|
0.00001
|
NM_020822.3(KCNT1):c.1577C>T (p.Thr526Ile)
|
rs753874335
|
0.00001
|
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys)
|
rs774588571
|
0.00001
|
NM_020822.3(KCNT1):c.1613G>A (p.Arg538His)
|
rs748178951
|
0.00001
|
NM_020822.3(KCNT1):c.1615G>A (p.Gly539Ser)
|
rs1035980360
|
0.00001
|
NM_020822.3(KCNT1):c.1619A>G (p.Gln540Arg)
|
rs1446587740
|
0.00001
|
NM_020822.3(KCNT1):c.1729G>A (p.Gly577Ser)
|
rs1220099278
|
0.00001
|
NM_020822.3(KCNT1):c.1751C>T (p.Ala584Val)
|
rs1423355423
|
0.00001
|
NM_020822.3(KCNT1):c.1766A>G (p.Lys589Arg)
|
rs1217094996
|
0.00001
|
NM_020822.3(KCNT1):c.1797G>T (p.Lys599Asn)
|
rs762247965
|
0.00001
|
NM_020822.3(KCNT1):c.181G>A (p.Val61Met)
|
rs1337263243
|
0.00001
|
NM_020822.3(KCNT1):c.1834C>T (p.Pro612Ser)
|
rs1330106369
|
0.00001
|
NM_020822.3(KCNT1):c.1837C>T (p.Arg613Trp)
|
rs779639843
|
0.00001
|
NM_020822.3(KCNT1):c.191T>G (p.Leu64Trp)
|
rs1564314603
|
0.00001
|
NM_020822.3(KCNT1):c.1957C>A (p.Leu653Met)
|
rs771481255
|
0.00001
|
NM_020822.3(KCNT1):c.1967G>A (p.Gly656Asp)
|
rs775458154
|
0.00001
|
NM_020822.3(KCNT1):c.1976G>A (p.Arg659His)
|
rs754634573
|
0.00001
|
NM_020822.3(KCNT1):c.2020A>G (p.Met674Val)
|
rs753401695
|
0.00001
|
NM_020822.3(KCNT1):c.2068G>A (p.Gly690Ser)
|
rs1410497158
|
0.00001
|
NM_020822.3(KCNT1):c.2069G>A (p.Gly690Asp)
|
rs777827895
|
0.00001
|
NM_020822.3(KCNT1):c.2075G>A (p.Gly692Asp)
|
rs922840311
|
0.00001
|
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met)
|
rs538197009
|
0.00001
|
NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp)
|
rs755348603
|
0.00001
|
NM_020822.3(KCNT1):c.2137G>A (p.Val713Ile)
|
rs945869943
|
0.00001
|
NM_020822.3(KCNT1):c.2174G>C (p.Cys725Ser)
|
rs756112023
|
0.00001
|
NM_020822.3(KCNT1):c.218T>C (p.Leu73Pro)
|
rs748537758
|
0.00001
|
NM_020822.3(KCNT1):c.2191C>A (p.Gln731Lys)
|
rs1437258889
|
0.00001
|
NM_020822.3(KCNT1):c.2216C>T (p.Ser739Leu)
|
rs1163455129
|
0.00001
|
NM_020822.3(KCNT1):c.2230C>T (p.Leu744Phe)
|
rs778897238
|
0.00001
|
NM_020822.3(KCNT1):c.2243+3G>A
|
rs939389547
|
0.00001
|
NM_020822.3(KCNT1):c.2339G>A (p.Arg780Gln)
|
rs780759196
|
0.00001
|
NM_020822.3(KCNT1):c.2349+4A>G
|
rs745399878
|
0.00001
|
NM_020822.3(KCNT1):c.2377G>A (p.Ala793Thr)
|
rs1466772062
|
0.00001
|
NM_020822.3(KCNT1):c.2431G>A (p.Gly811Ser)
|
rs748756591
|
0.00001
|
NM_020822.3(KCNT1):c.2452A>G (p.Ile818Val)
|
rs1306134073
|
0.00001
|
NM_020822.3(KCNT1):c.2455G>A (p.Val819Met)
|
rs771284979
|
0.00001
|
NM_020822.3(KCNT1):c.247G>C (p.Asp83His)
|
rs774085172
|
0.00001
|
NM_020822.3(KCNT1):c.2483G>A (p.Arg828His)
|
rs747191095
|
0.00001
|
NM_020822.3(KCNT1):c.2500A>G (p.Ile834Val)
|
rs1476079719
|
0.00001
|
NM_020822.3(KCNT1):c.2671G>A (p.Ala891Thr)
|
rs752835491
|
0.00001
|
NM_020822.3(KCNT1):c.2713G>A (p.Val905Met)
|
rs761134824
|
0.00001
|
NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp)
|
rs1249219901
|
0.00001
|
NM_020822.3(KCNT1):c.2729+4C>T
|
rs1044688968
|
0.00001
|
NM_020822.3(KCNT1):c.2729+5G>A
|
rs759836338
|
0.00001
|
NM_020822.3(KCNT1):c.272A>G (p.Tyr91Cys)
|
rs1049280147
|
0.00001
|
NM_020822.3(KCNT1):c.274G>A (p.Val92Ile)
|
rs776233220
|
0.00001
|
NM_020822.3(KCNT1):c.2797C>T (p.Arg933Cys)
|
rs150395210
|
0.00001
|
NM_020822.3(KCNT1):c.2848C>T (p.Arg950Ter)
|
rs1276883403
|
0.00001
|
NM_020822.3(KCNT1):c.2881C>T (p.Arg961Cys)
|
rs1178947201
|
0.00001
|
NM_020822.3(KCNT1):c.2899G>A (p.Gly967Ser)
|
rs139397246
|
0.00001
|
NM_020822.3(KCNT1):c.2903G>A (p.Arg968His)
|
rs1325608473
|
0.00001
|
NM_020822.3(KCNT1):c.2905G>A (p.Val969Ile)
|
rs1216283172
|
0.00001
|
NM_020822.3(KCNT1):c.2950G>A (p.Val984Met)
|
rs1465054757
|
0.00001
|
NM_020822.3(KCNT1):c.2971A>G (p.Ile991Val)
|
rs757503542
|
0.00001
|
NM_020822.3(KCNT1):c.2975C>T (p.Thr992Ile)
|
rs1032036573
|
0.00001
|
NM_020822.3(KCNT1):c.2977C>T (p.Arg993Trp)
|
rs368252006
|
0.00001
|
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln)
|
rs752032951
|
0.00001
|
NM_020822.3(KCNT1):c.3002C>T (p.Thr1001Met)
|
rs372775166
|
0.00001
|
NM_020822.3(KCNT1):c.3005C>T (p.Pro1002Leu)
|
rs763585049
|
0.00001
|
NM_020822.3(KCNT1):c.3027+1G>A
|
rs756311140
|
0.00001
|
NM_020822.3(KCNT1):c.3027C>T (p.Ala1009=)
|
rs371694148
|
0.00001
|
NM_020822.3(KCNT1):c.3046G>A (p.Asp1016Asn)
|
rs779908455
|
0.00001
|
NM_020822.3(KCNT1):c.3050T>G (p.Leu1017Arg)
|
rs1450164108
|
0.00001
|
NM_020822.3(KCNT1):c.3067G>A (p.Gly1023Ser)
|
rs754128567
|
0.00001
|
NM_020822.3(KCNT1):c.3070C>T (p.Arg1024Cys)
|
rs554853844
|
0.00001
|
NM_020822.3(KCNT1):c.3071G>A (p.Arg1024His)
|
rs765283220
|
0.00001
|
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr)
|
rs779961735
|
0.00001
|
NM_020822.3(KCNT1):c.3103G>A (p.Glu1035Lys)
|
rs748937639
|
0.00001
|
NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln)
|
rs763578184
|
0.00001
|
NM_020822.3(KCNT1):c.3197T>C (p.Val1066Ala)
|
rs1554780631
|
0.00001
|
NM_020822.3(KCNT1):c.31G>A (p.Gly11Arg)
|
rs775548158
|
0.00001
|
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met)
|
rs771889785
|
0.00001
|
NM_020822.3(KCNT1):c.3284G>A (p.Gly1095Asp)
|
rs1206215512
|
0.00001
|
NM_020822.3(KCNT1):c.3310C>G (p.Leu1104Val)
|
rs996610690
|
0.00001
|
NM_020822.3(KCNT1):c.3322A>G (p.Lys1108Glu)
|
rs1358295612
|
0.00001
|
NM_020822.3(KCNT1):c.3353G>A (p.Arg1118His)
|
rs1055618053
|
0.00001
|
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val)
|
rs1381344367
|
0.00001
|
NM_020822.3(KCNT1):c.3425G>A (p.Arg1142Gln)
|
rs773520283
|
0.00001
|
NM_020822.3(KCNT1):c.3431C>G (p.Ser1144Cys)
|
rs766557144
|
0.00001
|
NM_020822.3(KCNT1):c.3445C>T (p.Leu1149Phe)
|
rs1177972273
|
0.00001
|
NM_020822.3(KCNT1):c.3460A>C (p.Lys1154Gln)
|
rs750176430
|
0.00001
|
NM_020822.3(KCNT1):c.346C>T (p.Arg116Trp)
|
rs1588309625
|
0.00001
|
NM_020822.3(KCNT1):c.347G>A (p.Arg116Gln)
|
rs748873120
|
0.00001
|
NM_020822.3(KCNT1):c.3502+2dup
|
rs1336283260
|
0.00001
|
NM_020822.3(KCNT1):c.3503-17G>A
|
rs761613092
|
0.00001
|
NM_020822.3(KCNT1):c.3508A>G (p.Met1170Val)
|
rs1834554393
|
0.00001
|
NM_020822.3(KCNT1):c.3517C>T (p.His1173Tyr)
|
rs1450163574
|
0.00001
|
NM_020822.3(KCNT1):c.3571G>A (p.Glu1191Lys)
|
rs1292390745
|
0.00001
|
NM_020822.3(KCNT1):c.3586G>A (p.Val1196Ile)
|
rs1171803758
|
0.00001
|
NM_020822.3(KCNT1):c.3616C>T (p.His1206Tyr)
|
rs759561558
|
0.00001
|
NM_020822.3(KCNT1):c.3651C>G (p.Ser1217Arg)
|
rs756986311
|
0.00001
|
NM_020822.3(KCNT1):c.3660C>G (p.His1220Gln)
|
rs868847760
|
0.00001
|
NM_020822.3(KCNT1):c.3668C>T (p.Ser1223Leu)
|
rs779379200
|
0.00001
|
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn)
|
rs146193090
|
0.00001
|
NM_020822.3(KCNT1):c.3708A>C (p.Ter1236Cys)
|
rs1459930316
|
0.00001
|
NM_020822.3(KCNT1):c.398G>A (p.Arg133His)
|
rs201295824
|
0.00001
|
NM_020822.3(KCNT1):c.400G>A (p.Val134Ile)
|
rs766663683
|
0.00001
|
NM_020822.3(KCNT1):c.425G>T (p.Gly142Val)
|
rs1831131534
|
0.00001
|
NM_020822.3(KCNT1):c.473C>T (p.Ser158Leu)
|
rs751075368
|
0.00001
|
NM_020822.3(KCNT1):c.494C>T (p.Ala165Val)
|
rs1359744304
|
0.00001
|
NM_020822.3(KCNT1):c.52C>T (p.Arg18Cys)
|
rs1238224961
|
0.00001
|
NM_020822.3(KCNT1):c.547G>A (p.Val183Met)
|
rs751729308
|
0.00001
|
NM_020822.3(KCNT1):c.550G>T (p.Ala184Ser)
|
rs757371759
|
0.00001
|
NM_020822.3(KCNT1):c.566T>C (p.Leu189Pro)
|
rs749194581
|
0.00001
|
NM_020822.3(KCNT1):c.600+5G>A
|
rs770367654
|
0.00001
|
NM_020822.3(KCNT1):c.730C>T (p.Leu244=)
|
rs376096546
|
0.00001
|
NM_020822.3(KCNT1):c.754A>C (p.Met252Leu)
|
rs755782470
|
0.00001
|
NM_020822.3(KCNT1):c.759+6C>T
|
rs1057522462
|
0.00001
|
NM_020822.3(KCNT1):c.928G>A (p.Val310Ile)
|
rs149436191
|
0.00001
|
NM_020822.3(KCNT1):c.984G>C (p.Gln328His)
|
rs1289554527
|
0.00001
|
NM_021267.5(CERS1):c.1030C>G (p.Leu344Val)
|
rs1488082332
|
0.00001
|
NM_021267.5(CERS1):c.158C>T (p.Ala53Val)
|
rs2056615240
|
0.00001
|
NM_021267.5(CERS1):c.23C>G (p.Ala8Gly)
|
rs1568309719
|
0.00001
|
NM_021267.5(CERS1):c.244T>C (p.Phe82Leu)
|
rs977068016
|
0.00001
|
NM_021267.5(CERS1):c.263G>A (p.Arg88Gln)
|
rs370175943
|
0.00001
|
NM_021267.5(CERS1):c.305G>A (p.Ser102Asn)
|
rs748527035
|
0.00001
|
NM_021267.5(CERS1):c.408C>T (p.Tyr136=)
|
rs779362030
|
0.00001
|
NM_021267.5(CERS1):c.410-6C>T
|
rs932231463
|
0.00001
|
NM_021267.5(CERS1):c.436C>T (p.Arg146Trp)
|
rs913223329
|
0.00001
|
NM_021267.5(CERS1):c.559C>G (p.Leu187Val)
|
rs772627907
|
0.00001
|
NM_021267.5(CERS1):c.571G>A (p.Val191Ile)
|
rs768421620
|
0.00001
|
NM_021267.5(CERS1):c.590+3A>T
|
rs752762244
|
0.00001
|
NM_021267.5(CERS1):c.689G>C (p.Gly230Ala)
|
rs755440386
|
0.00001
|
NM_021267.5(CERS1):c.68T>C (p.Val23Ala)
|
rs1359065344
|
0.00001
|
NM_021267.5(CERS1):c.698A>G (p.His233Arg)
|
rs2056172422
|
0.00001
|
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)
|
rs1375601977
|
0.00001
|
NM_021267.5(CERS1):c.779C>T (p.Pro260Leu)
|
rs759055660
|
0.00001
|
NM_021267.5(CERS1):c.785A>G (p.Lys262Arg)
|
rs1159373768
|
0.00001
|
NM_021267.5(CERS1):c.818G>A (p.Arg273His)
|
rs775672669
|
0.00001
|
NM_021267.5(CERS1):c.830A>C (p.Asp277Ala)
|
rs1283919339
|
0.00001
|
NM_021267.5(CERS1):c.845T>A (p.Phe282Tyr)
|
rs775383045
|
0.00001
|
NM_021267.5(CERS1):c.89C>T (p.Ala30Val)
|
rs1045601115
|
0.00001
|
NM_021267.5(CERS1):c.974C>T (p.Thr325Ile)
|
rs1696944643
|
0.00001
|
NM_032737.4(LMNB2):c.1035G>T (p.Glu345Asp)
|
rs373940127
|
0.00001
|
NM_032737.4(LMNB2):c.1091G>A (p.Arg364Gln)
|
rs767615829
|
0.00001
|
NM_032737.4(LMNB2):c.1202+5G>A
|
rs753219694
|
0.00001
|
NM_032737.4(LMNB2):c.1240G>A (p.Val414Ile)
|
rs771541316
|
0.00001
|
NM_032737.4(LMNB2):c.1253C>T (p.Thr418Ile)
|
rs532971889
|
0.00001
|
NM_032737.4(LMNB2):c.1289G>A (p.Arg430His)
|
rs555606326
|
0.00001
|
NM_032737.4(LMNB2):c.1297C>T (p.Arg433Cys)
|
rs773783967
|
0.00001
|
NM_032737.4(LMNB2):c.1339A>G (p.Ser447Gly)
|
rs1337959401
|
0.00001
|
NM_032737.4(LMNB2):c.1412C>T (p.Ser471Leu)
|
rs761548544
|
0.00001
|
NM_032737.4(LMNB2):c.1434G>T (p.Glu478Asp)
|
rs1317586350
|
0.00001
|
NM_032737.4(LMNB2):c.1465A>C (p.Lys489Gln)
|
rs1399119743
|
0.00001
|
NM_032737.4(LMNB2):c.1475C>T (p.Ser492Leu)
|
rs779868941
|
0.00001
|
NM_032737.4(LMNB2):c.147G>C (p.Glu49Asp)
|
rs1302429423
|
0.00001
|
NM_032737.4(LMNB2):c.1481A>C (p.Lys494Thr)
|
rs563268222
|
0.00001
|
NM_032737.4(LMNB2):c.1515G>T (p.Arg505Ser)
|
rs1971753890
|
0.00001
|
NM_032737.4(LMNB2):c.1528G>C (p.Gly510Arg)
|
rs779010033
|
0.00001
|
NM_032737.4(LMNB2):c.1570C>T (p.Arg524Cys)
|
rs201055797
|
0.00001
|
NM_032737.4(LMNB2):c.1571G>A (p.Arg524His)
|
rs953502420
|
0.00001
|
NM_032737.4(LMNB2):c.1597G>A (p.Ala533Thr)
|
rs779286652
|
0.00001
|
NM_032737.4(LMNB2):c.1777G>C (p.Glu593Gln)
|
rs375038177
|
0.00001
|
NM_032737.4(LMNB2):c.23G>A (p.Arg8His)
|
rs942561547
|
0.00001
|
NM_032737.4(LMNB2):c.26G>A (p.Arg9His)
|
rs1972098298
|
0.00001
|
NM_032737.4(LMNB2):c.29G>C (p.Arg10Pro)
|
rs984068789
|
0.00001
|
NM_032737.4(LMNB2):c.340C>T (p.Arg114Cys)
|
rs375451196
|
0.00001
|
NM_032737.4(LMNB2):c.344C>G (p.Ala115Gly)
|
rs1474895568
|
0.00001
|
NM_032737.4(LMNB2):c.347G>A (p.Arg116Gln)
|
rs370820384
|
0.00001
|
NM_032737.4(LMNB2):c.388G>A (p.Glu130Lys)
|
rs755832231
|
0.00001
|
NM_032737.4(LMNB2):c.442C>T (p.Arg148Cys)
|
rs369668021
|
0.00001
|
NM_032737.4(LMNB2):c.454C>A (p.Leu152Met)
|
rs1158079562
|
0.00001
|
NM_032737.4(LMNB2):c.472C>T (p.Arg158Trp)
|
rs1410022707
|
0.00001
|
NM_032737.4(LMNB2):c.473G>A (p.Arg158Gln)
|
rs375613243
|
0.00001
|
NM_032737.4(LMNB2):c.541C>T (p.Arg181Trp)
|
rs1204917895
|
0.00001
|
NM_032737.4(LMNB2):c.557A>T (p.Lys186Met)
|
rs1331367506
|
0.00001
|
NM_032737.4(LMNB2):c.575C>T (p.Ala192Val)
|
rs1389587109
|
0.00001
|
NM_032737.4(LMNB2):c.596A>G (p.Glu199Gly)
|
rs146647837
|
0.00001
|
NM_032737.4(LMNB2):c.614G>A (p.Arg205His)
|
rs767067963
|
0.00001
|
NM_032737.4(LMNB2):c.632G>T (p.Arg211Leu)
|
rs765666579
|
0.00001
|
NM_032737.4(LMNB2):c.665G>A (p.Arg222Gln)
|
rs747514243
|
0.00001
|
NM_032737.4(LMNB2):c.691C>T (p.Arg231Trp)
|
rs760267703
|
0.00001
|
NM_032737.4(LMNB2):c.743G>A (p.Arg248Gln)
|
rs201250275
|
0.00001
|
NM_032737.4(LMNB2):c.842C>T (p.Thr281Ile)
|
rs1211211815
|
0.00001
|
NM_032737.4(LMNB2):c.855+15C>T
|
rs371996134
|
0.00001
|
NM_032737.4(LMNB2):c.889G>A (p.Asp297Asn)
|
rs776112679
|
0.00001
|
NM_032737.4(LMNB2):c.896C>T (p.Ala299Val)
|
rs764892106
|
0.00001
|
NM_032737.4(LMNB2):c.940C>A (p.Leu314Met)
|
rs1971799683
|
0.00001
|
NM_032737.4(LMNB2):c.965C>T (p.Ser322Phe)
|
rs760403121
|
0.00001
|
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr)
|
rs781255236
|
0.00001
|
NM_153026.3(PRICKLE1):c.1012A>G (p.Lys338Glu)
|
rs1328763941
|
0.00001
|
NM_153026.3(PRICKLE1):c.1021C>T (p.Arg341Trp)
|
rs759164554
|
0.00001
|
NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln)
|
rs577174749
|
0.00001
|
NM_153026.3(PRICKLE1):c.1058C>T (p.Ser353Leu)
|
rs1454994864
|
0.00001
|
NM_153026.3(PRICKLE1):c.1103A>G (p.Asp368Gly)
|
rs747305137
|
0.00001
|
NM_153026.3(PRICKLE1):c.1118G>A (p.Arg373Gln)
|
rs1254082305
|
0.00001
|
NM_153026.3(PRICKLE1):c.1165A>G (p.Ser389Gly)
|
rs1466958238
|
0.00001
|
NM_153026.3(PRICKLE1):c.1194G>T (p.Glu398Asp)
|
rs1938024539
|
0.00001
|
NM_153026.3(PRICKLE1):c.1208A>G (p.Glu403Gly)
|
rs367941464
|
0.00001
|
NM_153026.3(PRICKLE1):c.1225G>A (p.Ala409Thr)
|
rs774422189
|
0.00001
|
NM_153026.3(PRICKLE1):c.124C>T (p.Pro42Ser)
|
rs758787019
|
0.00001
|
NM_153026.3(PRICKLE1):c.1299T>G (p.Asn433Lys)
|
rs779594296
|
0.00001
|
NM_153026.3(PRICKLE1):c.1342A>T (p.Met448Leu)
|
rs776727562
|
0.00001
|
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu)
|
rs780931107
|
0.00001
|
NM_153026.3(PRICKLE1):c.1406C>G (p.Ser469Cys)
|
rs751326939
|
0.00001
|
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg)
|
rs570770626
|
0.00001
|
NM_153026.3(PRICKLE1):c.1438C>G (p.Leu480Val)
|
rs552840971
|
0.00001
|
NM_153026.3(PRICKLE1):c.1444G>A (p.Asp482Asn)
|
rs1555229983
|
0.00001
|
NM_153026.3(PRICKLE1):c.1477A>C (p.Ser493Arg)
|
rs547914367
|
0.00001
|
NM_153026.3(PRICKLE1):c.1505T>G (p.Leu502Arg)
|
rs768870075
|
0.00001
|
NM_153026.3(PRICKLE1):c.1511A>G (p.His504Arg)
|
rs201054946
|
0.00001
|
NM_153026.3(PRICKLE1):c.1516G>A (p.Ala506Thr)
|
rs796052932
|
0.00001
|
NM_153026.3(PRICKLE1):c.1568G>A (p.Cys523Tyr)
|
rs1265886356
|
0.00001
|
NM_153026.3(PRICKLE1):c.1607C>T (p.Ser536Leu)
|
rs150766064
|
0.00001
|
NM_153026.3(PRICKLE1):c.1609A>G (p.Met537Val)
|
rs1437950772
|
0.00001
|
NM_153026.3(PRICKLE1):c.1631A>G (p.Asn544Ser)
|
rs1361111517
|
0.00001
|
NM_153026.3(PRICKLE1):c.1639+5G>A
|
rs201450953
|
0.00001
|
NM_153026.3(PRICKLE1):c.163G>A (p.Glu55Lys)
|
rs1938269718
|
0.00001
|
NM_153026.3(PRICKLE1):c.1681T>C (p.Tyr561His)
|
rs1232951000
|
0.00001
|
NM_153026.3(PRICKLE1):c.1919A>G (p.Asn640Ser)
|
rs139937830
|
0.00001
|
NM_153026.3(PRICKLE1):c.1922G>A (p.Gly641Glu)
|
rs374621616
|
0.00001
|
NM_153026.3(PRICKLE1):c.1954A>G (p.Met652Val)
|
rs1194478107
|
0.00001
|
NM_153026.3(PRICKLE1):c.2021G>C (p.Arg674Pro)
|
rs748173327
|
0.00001
|
NM_153026.3(PRICKLE1):c.2024G>A (p.Arg675His)
|
rs1233536174
|
0.00001
|
NM_153026.3(PRICKLE1):c.2045G>A (p.Arg682His)
|
rs189093086
|
0.00001
|
NM_153026.3(PRICKLE1):c.2120A>G (p.Asp707Gly)
|
rs1937758569
|
0.00001
|
NM_153026.3(PRICKLE1):c.2155C>T (p.Arg719Trp)
|
rs746199700
|
0.00001
|
NM_153026.3(PRICKLE1):c.2156G>A (p.Arg719Gln)
|
rs779059953
|
0.00001
|
NM_153026.3(PRICKLE1):c.2175C>G (p.Ile725Met)
|
rs1555229265
|
0.00001
|
NM_153026.3(PRICKLE1):c.2192A>G (p.Tyr731Cys)
|
rs567656128
|
0.00001
|
NM_153026.3(PRICKLE1):c.2249G>A (p.Arg750Gln)
|
rs1323129125
|
0.00001
|
NM_153026.3(PRICKLE1):c.2276A>G (p.Asp759Gly)
|
rs778196919
|
0.00001
|
NM_153026.3(PRICKLE1):c.2311G>A (p.Asp771Asn)
|
rs146670726
|
0.00001
|
NM_153026.3(PRICKLE1):c.2359C>T (p.Arg787Trp)
|
rs765199745
|
0.00001
|
NM_153026.3(PRICKLE1):c.241A>C (p.Asn81His)
|
rs796052934
|
0.00001
|
NM_153026.3(PRICKLE1):c.2422C>A (p.Pro808Thr)
|
rs780823369
|
0.00001
|
NM_153026.3(PRICKLE1):c.2431G>A (p.Gly811Ser)
|
rs751446088
|
0.00001
|
NM_153026.3(PRICKLE1):c.2446A>G (p.Lys816Glu)
|
rs1304426627
|
0.00001
|
NM_153026.3(PRICKLE1):c.2465G>T (p.Gly822Val)
|
rs1371533275
|
0.00001
|
NM_153026.3(PRICKLE1):c.251G>A (p.Arg84Gln)
|
rs766439768
|
0.00001
|
NM_153026.3(PRICKLE1):c.320A>C (p.Glu107Ala)
|
rs201983132
|
0.00001
|
NM_153026.3(PRICKLE1):c.352T>C (p.Ser118Pro)
|
rs755590703
|
0.00001
|
NM_153026.3(PRICKLE1):c.356G>C (p.Arg119Thr)
|
rs961991320
|
0.00001
|
NM_153026.3(PRICKLE1):c.400A>C (p.Asn134His)
|
rs200558941
|
0.00001
|
NM_153026.3(PRICKLE1):c.428C>T (p.Ser143Phe)
|
rs758143303
|
0.00001
|
NM_153026.3(PRICKLE1):c.43G>A (p.Gly15Ser)
|
rs1258793726
|
0.00001
|
NM_153026.3(PRICKLE1):c.445G>A (p.Val149Met)
|
rs751791144
|
0.00001
|
NM_153026.3(PRICKLE1):c.479C>T (p.Thr160Met)
|
rs777277493
|
0.00001
|
NM_153026.3(PRICKLE1):c.50A>C (p.Gln17Pro)
|
rs771838146
|
0.00001
|
NM_153026.3(PRICKLE1):c.601G>A (p.Asp201Asn)
|
rs1300341380
|
0.00001
|
NM_153026.3(PRICKLE1):c.604G>A (p.Glu202Lys)
|
rs1486749442
|
0.00001
|
NM_153026.3(PRICKLE1):c.641A>C (p.Lys214Thr)
|
rs1178731670
|
0.00001
|
NM_153026.3(PRICKLE1):c.656T>C (p.Leu219Pro)
|
rs1469737110
|
0.00001
|
NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met)
|
rs754218148
|
0.00001
|
NM_153026.3(PRICKLE1):c.699G>T (p.Lys233Asn)
|
rs1443820017
|
0.00001
|
NM_153026.3(PRICKLE1):c.739T>C (p.Tyr247His)
|
rs780974681
|
0.00001
|
NM_153026.3(PRICKLE1):c.778G>A (p.Val260Met)
|
rs1199665357
|
0.00001
|
NM_153026.3(PRICKLE1):c.857C>A (p.Ala286Asp)
|
rs1361958779
|
0.00001
|
NM_153033.5(KCTD7):c.107C>T (p.Thr36Met)
|
rs773209854
|
0.00001
|
NM_153033.5(KCTD7):c.121G>C (p.Ala41Pro)
|
rs766856368
|
0.00001
|
NM_153033.5(KCTD7):c.141G>C (p.Gln47His)
|
rs753563583
|
0.00001
|
NM_153033.5(KCTD7):c.144+4C>G
|
rs757018925
|
0.00001
|
NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg)
|
rs750033880
|
0.00001
|
NM_153033.5(KCTD7):c.181C>T (p.His61Tyr)
|
rs368018261
|
0.00001
|
NM_153033.5(KCTD7):c.182A>G (p.His61Arg)
|
rs529063727
|
0.00001
|
NM_153033.5(KCTD7):c.209G>A (p.Arg70Gln)
|
rs749483829
|
0.00001
|
NM_153033.5(KCTD7):c.22G>A (p.Glu8Lys)
|
rs1308286439
|
0.00001
|
NM_153033.5(KCTD7):c.239T>C (p.Met80Thr)
|
rs202167686
|
0.00001
|
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp)
|
rs754476100
|
0.00001
|
NM_153033.5(KCTD7):c.257A>G (p.Tyr86Cys)
|
rs188483031
|
0.00001
|
NM_153033.5(KCTD7):c.259A>G (p.Ile87Val)
|
rs1182254636
|
0.00001
|
NM_153033.5(KCTD7):c.274G>A (p.Glu92Lys)
|
rs780710316
|
0.00001
|
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln)
|
rs984651812
|
0.00001
|
NM_153033.5(KCTD7):c.334C>T (p.Arg112Cys)
|
rs769991459
|
0.00001
|
NM_153033.5(KCTD7):c.35G>C (p.Arg12Pro)
|
rs763423181
|
0.00001
|
NM_153033.5(KCTD7):c.380A>G (p.Lys127Arg)
|
rs765083971
|
0.00001
|
NM_153033.5(KCTD7):c.403G>A (p.Gly135Arg)
|
rs781725855
|
0.00001
|
NM_153033.5(KCTD7):c.422_424dup (p.Leu141_Glu142insVal)
|
rs747385800
|
0.00001
|
NM_153033.5(KCTD7):c.444G>T (p.Lys148Asn)
|
rs746540809
|
0.00001
|
NM_153033.5(KCTD7):c.447C>T (p.Gly149=)
|
rs767984903
|
0.00001
|
NM_153033.5(KCTD7):c.494-3T>C
|
rs1786646567
|
0.00001
|
NM_153033.5(KCTD7):c.524G>A (p.Arg175Gln)
|
rs758709078
|
0.00001
|
NM_153033.5(KCTD7):c.530G>A (p.Arg177His)
|
rs1469857830
|
0.00001
|
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val)
|
rs368001837
|
0.00001
|
NM_153033.5(KCTD7):c.542G>A (p.Arg181Gln)
|
rs754654827
|
0.00001
|
NM_153033.5(KCTD7):c.602C>G (p.Pro201Arg)
|
rs774050685
|
0.00001
|
NM_153033.5(KCTD7):c.61T>G (p.Ser21Ala)
|
rs753471689
|
0.00001
|
NM_153033.5(KCTD7):c.623A>G (p.Asn208Ser)
|
rs762356641
|
0.00001
|
NM_153033.5(KCTD7):c.632G>T (p.Arg211Leu)
|
rs376332394
|
0.00001
|
NM_153033.5(KCTD7):c.640C>T (p.Arg214Trp)
|
rs755711171
|
0.00001
|
NM_153033.5(KCTD7):c.641G>A (p.Arg214Gln)
|
rs1362697719
|
0.00001
|
NM_153033.5(KCTD7):c.68C>T (p.Ala23Val)
|
rs745360140
|
0.00001
|
NM_153033.5(KCTD7):c.89C>T (p.Pro30Leu)
|
rs890695139
|
0.00001
|
NM_178013.4(PRIMA1):c.11G>A (p.Arg4Gln)
|
rs924313155
|
0.00001
|
NM_178013.4(PRIMA1):c.13G>A (p.Asp5Asn)
|
rs1457017587
|
0.00001
|
NM_178013.4(PRIMA1):c.236A>G (p.Asn79Ser)
|
rs1000407112
|
0.00001
|
NM_178013.4(PRIMA1):c.272C>G (p.Ser91Trp)
|
rs1461678706
|
0.00001
|
NM_178013.4(PRIMA1):c.341G>A (p.Cys114Tyr)
|
rs1244257411
|
0.00001
|
NM_178013.4(PRIMA1):c.364C>T (p.Pro122Ser)
|
rs1434626074
|
0.00001
|
NM_178013.4(PRIMA1):c.379G>A (p.Glu127Lys)
|
rs141491542
|
0.00001
|
NM_178013.4(PRIMA1):c.394G>A (p.Val132Ile)
|
rs761493685
|
0.00001
|
NM_178013.4(PRIMA1):c.426C>G (p.Ser142Arg)
|
rs370561739
|
0.00001
|
NM_178013.4(PRIMA1):c.451G>A (p.Ala151Thr)
|
rs200782279
|
0.00001
|
NM_178013.4(PRIMA1):c.455T>C (p.Val152Ala)
|
rs1363990084
|
0.00001
|
NM_178013.4(PRIMA1):c.8T>C (p.Leu3Pro)
|
rs1365665298
|
0.00001
|
NM_178013.4(PRIMA1):c.94-10A>G
|
rs1885316450
|
0.00001
|
NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile)
|
rs1388505858
|
0.00001
|
NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp)
|
rs377395116
|
0.00001
|
NM_198586.3(NHLRC1):c.1058C>T (p.Pro353Leu)
|
rs1440601226
|
0.00001
|
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp)
|
rs372993582
|
0.00001
|
NM_198586.3(NHLRC1):c.1132C>G (p.Leu378Val)
|
rs778364234
|
0.00001
|
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe)
|
rs541460675
|
0.00001
|
NM_198586.3(NHLRC1):c.1166T>A (p.Val389Asp)
|
rs562100142
|
0.00001
|
NM_198586.3(NHLRC1):c.218G>A (p.Arg73Gln)
|
rs1280991443
|
0.00001
|
NM_198586.3(NHLRC1):c.243C>A (p.Ser81Arg)
|
rs1174745955
|
0.00001
|
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser)
|
rs568131096
|
0.00001
|
NM_198586.3(NHLRC1):c.313C>A (p.Arg105Ser)
|
rs909097062
|
0.00001
|
NM_198586.3(NHLRC1):c.322C>T (p.Pro108Ser)
|
rs1467326281
|
0.00001
|
NM_198586.3(NHLRC1):c.374C>A (p.Thr125Asn)
|
rs1085307861
|
0.00001
|
NM_198586.3(NHLRC1):c.389C>A (p.Thr130Asn)
|
rs1294825458
|
0.00001
|
NM_198586.3(NHLRC1):c.415G>A (p.Gly139Arg)
|
rs1783749311
|
0.00001
|
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys)
|
rs148035405
|
0.00001
|
NM_198586.3(NHLRC1):c.48G>A (p.Met16Ile)
|
rs1233490914
|
0.00001
|
NM_198586.3(NHLRC1):c.49C>A (p.Arg17Ser)
|
rs368134036
|
0.00001
|
NM_198586.3(NHLRC1):c.52G>C (p.Glu18Gln)
|
rs771805307
|
0.00001
|
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly)
|
rs367649330
|
0.00001
|
NM_198586.3(NHLRC1):c.599T>C (p.Val200Ala)
|
rs746239356
|
0.00001
|
NM_198586.3(NHLRC1):c.5C>A (p.Ala2Glu)
|
rs963295265
|
0.00001
|
NM_198586.3(NHLRC1):c.612T>G (p.Phe204Leu)
|
rs201058506
|
0.00001
|
NM_198586.3(NHLRC1):c.659G>A (p.Gly220Asp)
|
rs1449381352
|
0.00001
|
NM_198586.3(NHLRC1):c.713C>G (p.Ser238Cys)
|
rs747276703
|
0.00001
|
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln)
|
rs371072212
|
0.00001
|
NM_198586.3(NHLRC1):c.773A>G (p.Gln258Arg)
|
rs377025668
|
0.00001
|
NM_198586.3(NHLRC1):c.782T>C (p.Leu261Pro)
|
rs879745047
|
0.00001
|
NM_198586.3(NHLRC1):c.787A>C (p.Asn263His)
|
rs749287999
|
0.00001
|
NM_198586.3(NHLRC1):c.791C>G (p.Pro264Arg)
|
rs796052756
|
0.00001
|
NM_198586.3(NHLRC1):c.808T>G (p.Ser270Ala)
|
rs755474952
|
0.00001
|
NM_198586.3(NHLRC1):c.821G>T (p.Gly274Val)
|
rs1281512045
|
0.00001
|
NM_198586.3(NHLRC1):c.913G>A (p.Gly305Ser)
|
rs752220824
|
0.00001
|
NM_198586.3(NHLRC1):c.970G>A (p.Ala324Thr)
|
rs776454075
|
0.00001
|
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr)
|
rs1415854808
|
0.00001
|
NM_198904.4(GABRG2):c.1111A>G (p.Lys371Glu)
|
rs1164039510
|
0.00001
|
NM_198904.4(GABRG2):c.1156C>T (p.Pro386Ser)
|
rs757311213
|
0.00001
|
NM_198904.4(GABRG2):c.1171C>T (p.Arg391Cys)
|
rs768576864
|
0.00001
|
NM_198904.4(GABRG2):c.1179A>T (p.Arg393Ser)
|
rs770952397
|
0.00001
|
NM_198904.4(GABRG2):c.1202A>T (p.Asn401Ile)
|
rs778999273
|
0.00001
|
NM_198904.4(GABRG2):c.1208C>T (p.Thr403Ile)
|
rs1765495907
|
0.00001
|
NM_198904.4(GABRG2):c.1273T>G (p.Phe425Val)
|
rs780991820
|
0.00001
|
NM_198904.4(GABRG2):c.1298G>A (p.Arg433Gln)
|
rs774474550
|
0.00001
|
NM_198904.4(GABRG2):c.1334G>A (p.Arg445His)
|
rs587780341
|
0.00001
|
NM_198904.4(GABRG2):c.173C>A (p.Thr58Asn)
|
rs763218917
|
0.00001
|
NM_198904.4(GABRG2):c.191G>A (p.Gly64Asp)
|
rs1408343754
|
0.00001
|
NM_198904.4(GABRG2):c.359C>T (p.Thr120Met)
|
rs1194128280
|
0.00001
|
NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser)
|
rs754884716
|
0.00001
|
NM_198904.4(GABRG2):c.37G>A (p.Val13Ile)
|
rs796052502
|
0.00001
|
NM_198904.4(GABRG2):c.470A>C (p.Lys157Thr)
|
rs770364855
|
0.00001
|
NM_198904.4(GABRG2):c.644G>A (p.Arg215His)
|
rs1561645172
|
0.00001
|
NM_198904.4(GABRG2):c.683A>C (p.Glu228Ala)
|
rs903838076
|
0.00001
|
NM_198904.4(GABRG2):c.985G>T (p.Val329Phe)
|
rs768061156
|
0.00001
|
NC_000003.11:g.(?_11058898)_(11078652_?)dup
|
|
|
NC_000003.11:g.(?_11075305)_(11078652_?)dup
|
|
|
NC_000003.11:g.(?_167402096)_(167543111_?)dup
|
|
|
NC_000003.12:g.(?_11025429)_(11036986_?)dup
|
|
|
NC_000003.12:g.(?_167684288)_(167825343_?)dup
|
|
|
NC_000003.12:g.(?_167822966)_(167825343_?)del
|
|
|
NC_000004.11:g.(?_77082846)_(77102274_?)dup
|
|
|
NC_000004.11:g.(?_77082866)_(77102264_?)del
|
|
|
NC_000004.11:g.(?_77082866)_(77102274_?)dup
|
|
|
NC_000004.11:g.(?_77116840)_(77134696_?)dup
|
|
|
NC_000004.11:g.(?_77116840)_(77134716_?)dup
|
|
|
NC_000004.11:g.(?_77116850)_(77134696_?)dup
|
|
|
NC_000004.11:g.(?_80828583)_(81124686_?)del
|
|
|
NC_000004.11:g.(?_81121235)_(81124686_?)dup
|
|
|
NC_000005.9:g.(?_161528235)_(161580379_?)dup
|
|
|
NC_000005.9:g.(?_161528241)_(161582545_?)dup
|
|
|
NC_000006.11:g.(?_52329683)_(52334281_?)del
|
|
|
NC_000006.12:g.(?_52423789)_(52492432_?)del
|
|
|
NC_000006.12:g.(?_52479017)_(52492432_?)del
|
|
|
NC_000007.13:g.(?_102937907)_(103151472_?)dup
|
|
|
NC_000007.13:g.(?_66094032)_(66105401_?)dup
|
|
|
NC_000007.13:g.(?_66094052)_(66094215_?)dup
|
|
|
NC_000007.13:g.(?_66094052)_(66103438_?)dup
|
|
|
NC_000008.10:g.(?_27319126)_(27328595_?)dup
|
|
|
NC_000008.10:g.(?_27319146)_(28608383_?)dup
|
|
|
NC_000008.10:g.(?_27326832)_(27328595_?)del
|
|
|
NC_000008.11:g.(?_27469335)_(27471194_?)del
|
|
|
NC_000009.11:g.(?_129376729)_(131016993_?)del
|
|
|
NC_000009.11:g.(?_130928476)_(131004634_?)dup
|
|
|
NC_000009.11:g.(?_130965750)_(131016993_?)dup
|
|
|
NC_000009.11:g.(?_135139626)_(140034216_?)dup
|
|
|
NC_000009.11:g.(?_138392557)_(141016451_?)del
|
|
|
NC_000009.11:g.(?_138585443)_(138606586_?)dup
|
|
|
NC_000009.11:g.(?_138594085)_(138606586_?)dup
|
|
|
NC_000009.11:g.(?_138594085)_(139440258_?)dup
|
|
|
NC_000009.11:g.(?_138594085)_(140062314_?)dup
|
|
|
NC_000009.11:g.(?_138606403)_(138606586_?)dup
|
|
|
NC_000009.11:g.(?_138641924)_(138649247_?)del
|
|
|
NC_000009.11:g.(?_138645763)_(140729425_?)del
|
|
|
NC_000009.11:g.(?_138651496)_(138651725_?)dup
|
|
|
NC_000009.12:g.(?_128203451)_(128203651_?)dup
|
|
|
NC_000009.12:g.(?_128234001)_(128234127_?)del
|
|
|
NC_000009.12:g.(?_128242212)_(128247506_?)del
|
|
|
NC_000009.12:g.(?_135769927)_(135792181_?)dup
|
|
|
NC_000009.12:g.(?_135775290)_(135788182_?)del
|
|
|
NC_000009.12:g.(?_135786177)_(135792181_?)del
|
|
|
NC_000010.10:g.(?_78844375)_(78846371_?)del
|
|
|
NC_000010.10:g.(?_79396125)_(79397420_?)dup
|
|
|
NC_000010.10:g.(?_79397003)_(79603484_?)dup
|
|
|
NC_000010.10:g.(?_95549836)_(95557560_?)dup
|
|
|
NC_000011.10:g.(?_17735983)_(17781754_?)dup
|
|
|
NC_000011.10:g.(?_68684904)_(68691007_?)dup
|
|
|
NC_000011.9:g.(?_17552691)_(19213995_?)dup
|
|
|
NC_000011.9:g.(?_17757550)_(17758139_?)dup
|
|
|
NC_000011.9:g.(?_68453042)_(68453136_?)del
|
|
|
NC_000012.11:g.(?_42853591)_(42866338_?)dup
|
|
|
NC_000012.11:g.(?_42853611)_(42854487_?)dup
|
|
|
NC_000012.11:g.(?_42853611)_(42866318_?)del
|
|
|
NC_000012.11:g.(?_42853611)_(42866318_?)dup
|
|
|
NC_000012.11:g.(?_42862785)_(42864169_?)del
|
|
|
NC_000014.8:g.(?_94187790)_(94187912_?)del
|
|
|
NC_000015.9:g.(?_93444468)_(93583743_?)dup
|
|
|
NC_000015.9:g.(?_93496567)_(93528923_?)dup
|
|
|
NC_000015.9:g.(?_93510535)_(93567935_?)dup
|
|
|
NC_000015.9:g.(?_93522345)_(93567935_?)dup
|
|
|
NC_000016.10:g.(?_86685)_(86890_?)del
|
|
|
NC_000016.10:g.(?_86685)_(86890_?)dup
|
|
|
NC_000016.10:g.(?_9763129)_(10180431_?)dup
|
|
|
NC_000016.10:g.(?_9890966)_(9938571_?)dup
|
|
|
NC_000016.9:g.(?_10273835)_(10274288_?)dup
|
|
|
NC_000016.9:g.(?_136684)_(139920_?)dup
|
|
|
NC_000016.9:g.(?_136684)_(143343_?)del
|
|
|
NC_000016.9:g.(?_136684)_(160624_?)dup
|
|
|
NC_000016.9:g.(?_136684)_(188286_?)dup
|
|
|
NC_000016.9:g.(?_136704)_(136889_?)del
|
|
|
NC_000016.9:g.(?_136704)_(139920_?)dup
|
|
|
NC_000016.9:g.(?_148123)_(167394_?)dup
|
|
|
NC_000016.9:g.(?_148123)_(188266_?)dup
|
|
|
NC_000016.9:g.(?_148123)_(193701_?)dup
|
|
|
NC_000016.9:g.(?_148291)_(178264_?)dup
|
|
|
NC_000016.9:g.(?_150350)_(150527_?)dup
|
|
|
NC_000016.9:g.(?_150350)_(169274_?)dup
|
|
|
NC_000016.9:g.(?_150360)_(150517_?)dup
|
|
|
NC_000016.9:g.(?_150360)_(169264_?)dup
|
|
|
NC_000016.9:g.(?_160503)_(169274_?)del
|
|
|
NC_000016.9:g.(?_160503)_(169274_?)dup
|
|
|
NC_000016.9:g.(?_160503)_(188266_?)dup
|
|
|
NC_000016.9:g.(?_160503)_(188286_?)dup
|
|
|
NC_000016.9:g.(?_160503)_(193701_?)dup
|
|
|
NC_000016.9:g.(?_160513)_(188266_?)dup
|
|
|
NC_000016.9:g.(?_162601)_(188266_?)dup
|
|
|
NC_000016.9:g.(?_167280)_(188286_?)dup
|
|
|
NC_000016.9:g.(?_167280)_(193701_?)dup
|
|
|
NC_000016.9:g.(?_180501)_(188266_?)dup
|
|
|
NC_000016.9:g.(?_180501)_(188286_?)dup
|
|
|
NC_000016.9:g.(?_180501)_(193701_?)dup
|
|
|
NC_000016.9:g.(?_188129)_(188286_?)dup
|
|
|
NC_000016.9:g.(?_8829577)_(10274288_?)dup
|
|
|
NC_000016.9:g.(?_8829597)_(11683693_?)dup
|
|
|
NC_000016.9:g.(?_9984823)_(10032428_?)del
|
|
|
NC_000017.10:g.(?_44845686)_(45016126_?)dup
|
|
|
NC_000017.10:g.(?_45000559)_(45016126_?)dup
|
|
|
NC_000019.10:g.(?_2456650)_(2456953_?)dup
|
|
|
NC_000019.9:g.(?_1456055)_(2456931_?)dup
|
|
|
NC_000019.9:g.(?_18893725)_(19312528_?)del
|
|
|
NC_000019.9:g.(?_19004205)_(19006901_?)dup
|
|
|
NC_000020.10:g.(?_61448417)_(62124660_?)del
|
|
|
NC_000020.10:g.(?_61977556)_(62044954_?)del
|
|
|
NC_000020.10:g.(?_61977556)_(62046499_?)del
|
|
|
NC_000020.10:g.(?_61977556)_(62065276_?)del
|
|
|
NC_000020.10:g.(?_61977556)_(62159505_?)del
|
|
|
NC_000020.10:g.(?_61977556)_(62159505_?)dup
|
|
|
NC_000020.10:g.(?_61977556)_(62562941_?)dup
|
|
|
NC_000020.10:g.(?_61987307)_(61992517_?)del
|
|
|
NC_000020.10:g.(?_61987307)_(61992517_?)dup
|
|
|
NC_000020.10:g.(?_61987307)_(61993206_?)del
|
|
|
NC_000020.10:g.(?_61987717)_(62038734_?)del
|
|
|
NC_000020.10:g.(?_61990880)_(62078210_?)dup
|
|
|
NC_000020.10:g.(?_61992422)_(62038748_?)del
|
|
|
NC_000020.11:g.(?_63346204)_(63361854_?)dup
|
|
|
NC_000020.11:g.(?_63355955)_(63356104_?)del
|
|
|
NC_000021.8:g.(?_44838120)_(45629566_?)dup
|
|
|
NC_000021.8:g.(?_44838130)_(45196150_?)dup
|
|
|
NC_000021.8:g.(?_45194063)_(45196170_?)dup
|
|
|
NC_000021.9:g.(?_43772665)_(43777375_?)dup
|
|
|
NC_000022.10:g.(?_32150888)_(32154639_?)dup
|
|
|
NC_000022.10:g.(?_32150888)_(32164869_?)dup
|
|
|
NC_000022.10:g.(?_32150908)_(32154639_?)dup
|
|
|
NC_000022.10:g.(?_32150908)_(32302483_?)dup
|
|
|
NC_000022.10:g.(?_32154522)_(32156698_?)del
|
|
|
NC_000022.10:g.(?_32162551)_(32162674_?)del
|
|
|
NC_000022.10:g.(?_32193566)_(32200921_?)del
|
|
|
NC_000022.10:g.(?_32198670)_(32198844_?)dup
|
|
|
NC_000022.10:g.(?_32253411)_(32302503_?)dup
|
|
|
NC_000022.10:g.(?_32289548)_(32302483_?)dup
|
|
|
NC_000022.10:g.(?_32297708)_(32302483_?)dup
|
|
|
NC_000022.10:g.(?_32297708)_(32302503_?)dup
|
|
|
NC_000022.11:g.(?_31798562)_(31798676_?)del
|
|
|
NC_000022.11:g.(?_31893562)_(31897673_?)del
|
|
|
NC_000023.10:g.(?_99917153)_(100662891_?)dup
|
|
|
NC_000023.11:g.(?_100644166)_(100671299_?)del
|
|
|
NC_000023.11:g.(?_100646303)_(100671007_?)dup
|
|
|
NM_000100.4(CSTB):c.100A>G (p.Lys34Glu)
|
rs2084002121
|
|
NM_000100.4(CSTB):c.106C>T (p.Pro36Ser)
|
rs748162136
|
|
NM_000100.4(CSTB):c.113T>A (p.Phe38Tyr)
|
rs1365612504
|
|
NM_000100.4(CSTB):c.116A>G (p.Lys39Arg)
|
|
|
NM_000100.4(CSTB):c.137A>G (p.Gln46Arg)
|
|
|
NM_000100.4(CSTB):c.139G>C (p.Val47Leu)
|
rs140799752
|
|
NM_000100.4(CSTB):c.140T>G (p.Val47Gly)
|
rs2084001744
|
|
NM_000100.4(CSTB):c.146C>A (p.Ala49Glu)
|
rs754421704
|
|
NM_000100.4(CSTB):c.168+5A>G
|
|
|
NM_000100.4(CSTB):c.168+6G>C
|
|
|
NM_000100.4(CSTB):c.169G>A (p.Val57Met)
|
rs796052394
|
|
NM_000100.4(CSTB):c.172C>T (p.His58Tyr)
|
rs2083999686
|
|
NM_000100.4(CSTB):c.17C>T (p.Pro6Leu)
|
|
|
NM_000100.4(CSTB):c.189C>G (p.Asp63Glu)
|
|
|
NM_000100.4(CSTB):c.191T>G (p.Phe64Cys)
|
rs1569005540
|
|
NM_000100.4(CSTB):c.193G>A (p.Val65Ile)
|
rs570768038
|
|
NM_000100.4(CSTB):c.193G>C (p.Val65Leu)
|
rs570768038
|
|
NM_000100.4(CSTB):c.203G>C (p.Arg68Pro)
|
rs757707761
|
|
NM_000100.4(CSTB):c.214T>C (p.Ser72Pro)
|
rs796052392
|
|
NM_000100.4(CSTB):c.232A>C (p.Lys78Gln)
|
rs2083999131
|
|
NM_000100.4(CSTB):c.251_254del (p.Asn84fs)
|
rs1555888363
|
|
NM_000100.4(CSTB):c.26C>A (p.Thr9Lys)
|
rs778785343
|
|
NM_000100.4(CSTB):c.295T>C (p.Ter99Arg)
|
rs2083998796
|
|
NM_000100.4(CSTB):c.31C>T (p.Pro11Ser)
|
rs2084009509
|
|
NM_000100.4(CSTB):c.34G>A (p.Ala12Thr)
|
|
|
NM_000100.4(CSTB):c.47C>T (p.Thr16Ile)
|
rs2084009370
|
|
NM_000100.4(CSTB):c.55A>G (p.Ile19Val)
|
rs1349028244
|
|
NM_000100.4(CSTB):c.66+3G>C
|
|
|
NM_000100.4(CSTB):c.96_98del (p.Asn32del)
|
rs750620672
|
|
NM_000100.4(CSTB):c.9C>G (p.Cys3Trp)
|
rs555930471
|
|
NM_000742.4(CHRNA2):c.1018A>T (p.Thr340Ser)
|
rs1586390027
|
|
NM_000742.4(CHRNA2):c.1037C>T (p.Thr346Ile)
|
|
|
NM_000742.4(CHRNA2):c.1039G>A (p.Val347Ile)
|
rs1057524196
|
|
NM_000742.4(CHRNA2):c.1045G>A (p.Val349Met)
|
rs774279507
|
|
NM_000742.4(CHRNA2):c.1045G>C (p.Val349Leu)
|
rs774279507
|
|
NM_000742.4(CHRNA2):c.1052A>C (p.Asn351Thr)
|
rs770305730
|
|
NM_000742.4(CHRNA2):c.1063C>G (p.Arg355Gly)
|
rs56339365
|
|
NM_000742.4(CHRNA2):c.1063C>T (p.Arg355Cys)
|
rs56339365
|
|
NM_000742.4(CHRNA2):c.106del (p.Ala36fs)
|
|
|
NM_000742.4(CHRNA2):c.1070C>T (p.Pro357Leu)
|
rs1586389806
|
|
NM_000742.4(CHRNA2):c.1082C>T (p.Thr361Ile)
|
|
|
NM_000742.4(CHRNA2):c.1093T>C (p.Trp365Arg)
|
|
|
NM_000742.4(CHRNA2):c.1094G>A (p.Trp365Ter)
|
rs2132651723
|
|
NM_000742.4(CHRNA2):c.1105G>A (p.Ala369Thr)
|
|
|
NM_000742.4(CHRNA2):c.1105del (p.Ala369fs)
|
rs757376257
|
|
NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs)
|
rs757376257
|
|
NM_000742.4(CHRNA2):c.1124C>T (p.Pro375Leu)
|
rs1812571543
|
|
NM_000742.4(CHRNA2):c.1131G>A (p.Trp377Ter)
|
|
|
NM_000742.4(CHRNA2):c.1138_1145dup (p.Arg382_Pro383insTer)
|
|
|
NM_000742.4(CHRNA2):c.1148C>T (p.Pro383Leu)
|
rs796052302
|
|
NM_000742.4(CHRNA2):c.1152del (p.Pro385fs)
|
rs1812569409
|
|
NM_000742.4(CHRNA2):c.1156C>T (p.Pro386Ser)
|
rs2132651430
|
|
NM_000742.4(CHRNA2):c.1174C>G (p.Pro392Ala)
|
rs762406891
|
|
NM_000742.4(CHRNA2):c.1175C>G (p.Pro392Arg)
|
|
|
NM_000742.4(CHRNA2):c.1178T>C (p.Leu393Pro)
|
rs2132651312
|
|
NM_000742.4(CHRNA2):c.1217G>C (p.Ser406Thr)
|
|
|
NM_000742.4(CHRNA2):c.121del (p.Leu41fs)
|
rs796052310
|
|
NM_000742.4(CHRNA2):c.1222G>A (p.Val408Met)
|
rs771994243
|
|
NM_000742.4(CHRNA2):c.1229C>T (p.Ala410Val)
|
|
|
NM_000742.4(CHRNA2):c.1240G>A (p.Glu414Lys)
|
rs968676056
|
|
NM_000742.4(CHRNA2):c.1240del (p.Glu414fs)
|
rs1360369489
|
|
NM_000742.4(CHRNA2):c.1243G>A (p.Val415Met)
|
|
|
NM_000742.4(CHRNA2):c.1255G>A (p.Glu419Lys)
|
rs1812560444
|
|
NM_000742.4(CHRNA2):c.1259del (p.Glu420fs)
|
|
|
NM_000742.4(CHRNA2):c.1260_1261delinsAC (p.Asp421His)
|
|
|
NM_000742.4(CHRNA2):c.1262A>G (p.Asp421Gly)
|
rs1064795452
|
|
NM_000742.4(CHRNA2):c.1266A>T (p.Arg422Ser)
|
rs2132650884
|
|
NM_000742.4(CHRNA2):c.1267T>C (p.Trp423Arg)
|
|
|
NM_000742.4(CHRNA2):c.1273T>A (p.Cys425Ser)
|
|
|
NM_000742.4(CHRNA2):c.1273T>C (p.Cys425Arg)
|
rs1179640861
|
|
NM_000742.4(CHRNA2):c.1275T>G (p.Cys425Trp)
|
|
|
NM_000742.4(CHRNA2):c.1277C>T (p.Ala426Val)
|
rs138721954
|
|
NM_000742.4(CHRNA2):c.1318G>C (p.Gly440Arg)
|
|
|
NM_000742.4(CHRNA2):c.131C>G (p.Pro44Arg)
|
|
|
NM_000742.4(CHRNA2):c.1345C>T (p.Pro449Ser)
|
|
|
NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter)
|
rs778197366
|
|
NM_000742.4(CHRNA2):c.1366C>G (p.Gln456Glu)
|
|
|
NM_000742.4(CHRNA2):c.1378C>A (p.Leu460Met)
|
rs765948265
|
|
NM_000742.4(CHRNA2):c.1378C>G (p.Leu460Val)
|
rs765948265
|
|
NM_000742.4(CHRNA2):c.137C>T (p.Pro46Leu)
|
rs748345482
|
|
NM_000742.4(CHRNA2):c.1393C>G (p.His465Asp)
|
rs772765800
|
|
NM_000742.4(CHRNA2):c.1412A>G (p.Glu471Gly)
|
rs963988264
|
|
NM_000742.4(CHRNA2):c.1415G>A (p.Gly472Asp)
|
rs1165713402
|
|
NM_000742.4(CHRNA2):c.1426A>C (p.Ile476Leu)
|
rs796052304
|
|
NM_000742.4(CHRNA2):c.1426A>G (p.Ile476Val)
|
rs796052304
|
|
NM_000742.4(CHRNA2):c.1447G>A (p.Glu483Lys)
|
rs755338508
|
|
NM_000742.4(CHRNA2):c.1460C>G (p.Ser487Cys)
|
|
|
NM_000742.4(CHRNA2):c.1464+4C>T
|
rs1586388485
|
|
NM_000742.4(CHRNA2):c.1464+5G>T
|
rs758065946
|
|
NM_000742.4(CHRNA2):c.1465-1G>A
|
rs1812498557
|
|
NM_000742.4(CHRNA2):c.1465-21_1465-20inv
|
|
|
NM_000742.4(CHRNA2):c.1468_1470del (p.Lys490del)
|
|
|
NM_000742.4(CHRNA2):c.1498_1500del (p.Ile500del)
|
rs760166123
|
|
NM_000742.4(CHRNA2):c.1501G>A (p.Asp501Asn)
|
rs759930402
|
|
NM_000742.4(CHRNA2):c.1531G>C (p.Val511Leu)
|
rs796052306
|
|
NM_000742.4(CHRNA2):c.1534T>C (p.Cys512Arg)
|
|
|
NM_000742.4(CHRNA2):c.1535G>T (p.Cys512Phe)
|
|
|
NM_000742.4(CHRNA2):c.1541T>A (p.Leu514Gln)
|
rs1812493442
|
|
NM_000742.4(CHRNA2):c.1541T>C (p.Leu514Pro)
|
rs1812493442
|
|
NM_000742.4(CHRNA2):c.1544G>A (p.Gly515Glu)
|
rs1563315936
|
|
NM_000742.4(CHRNA2):c.1555C>T (p.Leu519Phe)
|
rs1586386548
|
|
NM_000742.4(CHRNA2):c.1563_1564delinsCT (p.Pro522Ser)
|
rs2132646191
|
|
NM_000742.4(CHRNA2):c.1568C>G (p.Pro523Arg)
|
|
|
NM_000742.4(CHRNA2):c.1583T>C (p.Met528Thr)
|
rs1812490479
|
|
NM_000742.4(CHRNA2):c.164A>G (p.His55Arg)
|
rs1812820756
|
|
NM_000742.4(CHRNA2):c.16C>T (p.Pro6Ser)
|
|
|
NM_000742.4(CHRNA2):c.177G>C (p.Glu59Asp)
|
|
|
NM_000742.4(CHRNA2):c.178G>T (p.Asp60Tyr)
|
rs759538013
|
|
NM_000742.4(CHRNA2):c.181C>T (p.Arg61Trp)
|
|
|
NM_000742.4(CHRNA2):c.184C>T (p.Leu62Phe)
|
rs903870658
|
|
NM_000742.4(CHRNA2):c.193C>A (p.His65Asn)
|
rs200035862
|
|
NM_000742.4(CHRNA2):c.195C>G (p.His65Gln)
|
|
|
NM_000742.4(CHRNA2):c.197T>C (p.Leu66Pro)
|
|
|
NM_000742.4(CHRNA2):c.203G>T (p.Arg68Leu)
|
rs548268816
|
|
NM_000742.4(CHRNA2):c.209A>G (p.Tyr70Cys)
|
rs1812818035
|
|
NM_000742.4(CHRNA2):c.221C>A (p.Ala74Glu)
|
|
|
NM_000742.4(CHRNA2):c.221C>T (p.Ala74Val)
|
rs759595350
|
|
NM_000742.4(CHRNA2):c.224G>A (p.Arg75His)
|
rs762847144
|
|
NM_000742.4(CHRNA2):c.227C>G (p.Pro76Arg)
|
rs199810678
|
|
NM_000742.4(CHRNA2):c.22T>A (p.Phe8Ile)
|
rs1812864886
|
|
NM_000742.4(CHRNA2):c.235A>G (p.Asn79Asp)
|
rs1812814993
|
|
NM_000742.4(CHRNA2):c.239C>T (p.Thr80Ile)
|
rs1812814759
|
|
NM_000742.4(CHRNA2):c.24C>G (p.Phe8Leu)
|
|
|
NM_000742.4(CHRNA2):c.257T>A (p.Val86Glu)
|
|
|
NM_000742.4(CHRNA2):c.265G>A (p.Gly89Arg)
|
|
|
NM_000742.4(CHRNA2):c.269T>C (p.Leu90Pro)
|
|
|
NM_000742.4(CHRNA2):c.277G>C (p.Ala93Pro)
|
|
|
NM_000742.4(CHRNA2):c.286A>T (p.Ile96Phe)
|
rs149615415
|
|
NM_000742.4(CHRNA2):c.294+1G>A
|
rs1064795899
|
|
NM_000742.4(CHRNA2):c.294+2T>C
|
|
|
NM_000742.4(CHRNA2):c.295-18T>A
|
rs2132666061
|
|
NM_000742.4(CHRNA2):c.295-6G>A
|
rs2132665999
|
|
NM_000742.4(CHRNA2):c.295-7G>A
|
rs1812797993
|
|
NM_000742.4(CHRNA2):c.298G>A (p.Glu100Lys)
|
|
|
NM_000742.4(CHRNA2):c.29C>A (p.Ser10Tyr)
|
|
|
NM_000742.4(CHRNA2):c.301A>C (p.Lys101Gln)
|
rs1554515367
|
|
NM_000742.4(CHRNA2):c.305A>G (p.Asn102Ser)
|
rs2132665924
|
|
NM_000742.4(CHRNA2):c.328T>A (p.Trp110Arg)
|
|
|
NM_000742.4(CHRNA2):c.338A>C (p.Gln113Pro)
|
|
|
NM_000742.4(CHRNA2):c.339+5G>C
|
|
|
NM_000742.4(CHRNA2):c.35C>T (p.Thr12Ile)
|
|
|
NM_000742.4(CHRNA2):c.361C>A (p.Arg121Ser)
|
rs746274421
|
|
NM_000742.4(CHRNA2):c.361C>T (p.Arg121Cys)
|
|
|
NM_000742.4(CHRNA2):c.362G>A (p.Arg121His)
|
|
|
NM_000742.4(CHRNA2):c.364T>C (p.Trp122Arg)
|
|
|
NM_000742.4(CHRNA2):c.370C>A (p.Pro124Thr)
|
|
|
NM_000742.4(CHRNA2):c.373del (p.Thr125fs)
|
|
|
NM_000742.4(CHRNA2):c.376G>T (p.Asp126Tyr)
|
|
|
NM_000742.4(CHRNA2):c.380T>G (p.Phe127Cys)
|
rs777304017
|
|
NM_000742.4(CHRNA2):c.392C>T (p.Thr131Ile)
|
|
|
NM_000742.4(CHRNA2):c.403del (p.Val135fs)
|
rs777391476
|
|
NM_000742.4(CHRNA2):c.413_422del (p.Glu138fs)
|
|
|
NM_000742.4(CHRNA2):c.428C>A (p.Pro143His)
|
|
|
NM_000742.4(CHRNA2):c.437T>C (p.Val146Ala)
|
|
|
NM_000742.4(CHRNA2):c.444CAA[1] (p.Asn150del)
|
rs758217117
|
|
NM_000742.4(CHRNA2):c.450-1G>T
|
|
|
NM_000742.4(CHRNA2):c.458G>A (p.Gly153Glu)
|
rs1812618871
|
|
NM_000742.4(CHRNA2):c.476A>G (p.His159Arg)
|
rs1812618288
|
|
NM_000742.4(CHRNA2):c.485_491del (p.Lys162fs)
|
rs1563319139
|
|
NM_000742.4(CHRNA2):c.502A>T (p.Thr168Ser)
|
|
|
NM_000742.4(CHRNA2):c.515A>G (p.His172Arg)
|
rs1812615728
|
|
NM_000742.4(CHRNA2):c.523C>A (p.Pro175Thr)
|
|
|
NM_000742.4(CHRNA2):c.524C>T (p.Pro175Leu)
|
|
|
NM_000742.4(CHRNA2):c.527C>A (p.Pro176Gln)
|
rs769273715
|
|
NM_000742.4(CHRNA2):c.527C>T (p.Pro176Leu)
|
rs769273715
|
|
NM_000742.4(CHRNA2):c.537C>G (p.Tyr179Ter)
|
rs192887571
|
|
NM_000742.4(CHRNA2):c.540G>C (p.Lys180Asn)
|
rs201551533
|
|
NM_000742.4(CHRNA2):c.543C>G (p.Ser181Arg)
|
rs768575325
|
|
NM_000742.4(CHRNA2):c.549C>A (p.Cys183Ter)
|
rs1563319049
|
|
NM_000742.4(CHRNA2):c.551G>T (p.Ser184Ile)
|
|
|
NM_000742.4(CHRNA2):c.556G>A (p.Asp186Asn)
|
|
|
NM_000742.4(CHRNA2):c.563C>A (p.Thr188Asn)
|
|
|
NM_000742.4(CHRNA2):c.56T>C (p.Leu19Pro)
|
rs1812863482
|
|
NM_000742.4(CHRNA2):c.577G>T (p.Asp193Tyr)
|
|
|
NM_000742.4(CHRNA2):c.579C>A (p.Asp193Glu)
|
rs2132654151
|
|
NM_000742.4(CHRNA2):c.584A>C (p.Gln195Pro)
|
rs2132654123
|
|
NM_000742.4(CHRNA2):c.589T>C (p.Cys197Arg)
|
rs1554514597
|
|
NM_000742.4(CHRNA2):c.590G>T (p.Cys197Phe)
|
rs796052299
|
|
NM_000742.4(CHRNA2):c.603_616del (p.Phe201fs)
|
|
|
NM_000742.4(CHRNA2):c.607_629delinsATAAGTCCAG (p.Ser203fs)
|
rs1812608825
|
|
NM_000742.4(CHRNA2):c.625G>A (p.Ala209Thr)
|
|
|
NM_000742.4(CHRNA2):c.644A>G (p.Gln215Arg)
|
|
|
NM_000742.4(CHRNA2):c.647T>C (p.Met216Thr)
|
|
|
NM_000742.4(CHRNA2):c.653A>G (p.Gln218Arg)
|
rs377660408
|
|
NM_000742.4(CHRNA2):c.655A>G (p.Thr219Ala)
|
rs1428288320
|
|
NM_000742.4(CHRNA2):c.662A>G (p.Asp221Gly)
|
|
|
NM_000742.4(CHRNA2):c.676T>A (p.Trp226Arg)
|
|
|
NM_000742.4(CHRNA2):c.686_694del (p.Gly229_Trp231del)
|
|
|
NM_000742.4(CHRNA2):c.73+4A>C
|
rs1307812125
|
|
NM_000742.4(CHRNA2):c.74-6T>C
|
|
|
NM_000742.4(CHRNA2):c.74-6T>G
|
|
|
NM_000742.4(CHRNA2):c.740G>A (p.Cys247Tyr)
|
rs1812601639
|
|
NM_000742.4(CHRNA2):c.748G>A (p.Glu250Lys)
|
rs1262745996
|
|
NM_000742.4(CHRNA2):c.74G>C (p.Gly25Ala)
|
|
|
NM_000742.4(CHRNA2):c.763del (p.Val255fs)
|
rs2132653296
|
|
NM_000742.4(CHRNA2):c.767C>T (p.Thr256Ile)
|
rs1586390822
|
|
NM_000742.4(CHRNA2):c.784del (p.Arg262fs)
|
rs1332347946
|
|
NM_000742.4(CHRNA2):c.788G>C (p.Arg263Pro)
|
|
|
NM_000742.4(CHRNA2):c.799T>A (p.Phe267Ile)
|
rs1554514530
|
|
NM_000742.4(CHRNA2):c.809T>C (p.Ile270Thr)
|
rs2132653089
|
|
NM_000742.4(CHRNA2):c.822C>G (p.Ile274Met)
|
|
|
NM_000742.4(CHRNA2):c.844C>T (p.Leu282Phe)
|
|
|
NM_000742.4(CHRNA2):c.860T>C (p.Phe287Ser)
|
rs1060503073
|
|
NM_000742.4(CHRNA2):c.881G>A (p.Gly294Asp)
|
|
|
NM_000742.4(CHRNA2):c.884AGA[1] (p.Lys296del)
|
rs796052309
|
|
NM_000742.4(CHRNA2):c.907G>A (p.Val303Met)
|
|
|
NM_000742.4(CHRNA2):c.912_913delinsAA (p.Leu305Met)
|
rs2132652617
|
|
NM_000742.4(CHRNA2):c.922A>C (p.Thr308Pro)
|
rs1233767222
|
|
NM_000742.4(CHRNA2):c.929T>G (p.Phe310Cys)
|
rs1563318247
|
|
NM_000742.4(CHRNA2):c.92G>A (p.Arg31His)
|
|
|
NM_000742.4(CHRNA2):c.948G>C (p.Glu316Asp)
|
rs1812587015
|
|
NM_000742.4(CHRNA2):c.953T>A (p.Ile318Asn)
|
|
|
NM_000742.4(CHRNA2):c.956C>G (p.Pro319Arg)
|
rs750130500
|
|
NM_000742.4(CHRNA2):c.956C>T (p.Pro319Leu)
|
rs750130500
|
|
NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr)
|
rs760884840
|
|
NM_000742.4(CHRNA2):c.971T>A (p.Val324Asp)
|
|
|
NM_000742.4(CHRNA2):c.986G>C (p.Gly329Ala)
|
|
|
NM_000742.4(CHRNA2):c.993C>A (p.Tyr331Ter)
|
|
|
NM_000744.7(CHRNA4):c.1003C>T (p.Pro335Ser)
|
|
|
NM_000744.7(CHRNA4):c.1025C>T (p.Thr342Ile)
|
|
|
NM_000744.7(CHRNA4):c.1030dup (p.Val344fs)
|
rs1299258914
|
|
NM_000744.7(CHRNA4):c.1033C>G (p.Arg345Gly)
|
|
|
NM_000744.7(CHRNA4):c.1034G>A (p.Arg345His)
|
|
|
NM_000744.7(CHRNA4):c.1051A>G (p.Ile351Val)
|
|
|
NM_000744.7(CHRNA4):c.1066C>T (p.Leu356Phe)
|
rs121912265
|
|
NM_000744.7(CHRNA4):c.1069C>T (p.Leu357Phe)
|
rs1215991666
|
|
NM_000744.7(CHRNA4):c.1075A>G (p.Lys359Glu)
|
rs1555837732
|
|
NM_000744.7(CHRNA4):c.1075A>T (p.Lys359Ter)
|
rs1555837732
|
|
NM_000744.7(CHRNA4):c.1076A>C (p.Lys359Thr)
|
|
|
NM_000744.7(CHRNA4):c.1078C>T (p.Arg360Trp)
|
rs759167480
|
|
NM_000744.7(CHRNA4):c.107C>A (p.Ala36Asp)
|
rs2068775011
|
|
NM_000744.7(CHRNA4):c.1090G>A (p.Val364Ile)
|
|
|
NM_000744.7(CHRNA4):c.1091T>A (p.Val364Asp)
|
|
|
NM_000744.7(CHRNA4):c.109G>C (p.Glu37Gln)
|
|
|
NM_000744.7(CHRNA4):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_000744.7(CHRNA4):c.1129A>C (p.Lys377Gln)
|
|
|
NM_000744.7(CHRNA4):c.1131G>T (p.Lys377Asn)
|
rs2123471394
|
|
NM_000744.7(CHRNA4):c.1136_1158del (p.Ala379fs)
|
rs2068568636
|
|
NM_000744.7(CHRNA4):c.1139G>A (p.Ser380Asn)
|
rs1601474256
|
|
NM_000744.7(CHRNA4):c.1161G>C (p.Glu387Asp)
|
rs1064795592
|
|
NM_000744.7(CHRNA4):c.116G>A (p.Arg39Gln)
|
rs1412355004
|
|
NM_000744.7(CHRNA4):c.1178del (p.Pro393fs)
|
rs1435638963
|
|
NM_000744.7(CHRNA4):c.1178dup (p.Ala394fs)
|
rs1435638963
|
|
NM_000744.7(CHRNA4):c.1183A>G (p.Thr395Ala)
|
rs2068567925
|
|
NM_000744.7(CHRNA4):c.1188C>A (p.Ser396Arg)
|
|
|
NM_000744.7(CHRNA4):c.1192A>G (p.Thr398Ala)
|
|
|
NM_000744.7(CHRNA4):c.1206C>A (p.His402Gln)
|
|
|
NM_000744.7(CHRNA4):c.1207C>A (p.Pro403Thr)
|
rs903340563
|
|
NM_000744.7(CHRNA4):c.1207C>T (p.Pro403Ser)
|
|
|
NM_000744.7(CHRNA4):c.1208_1209delinsT (p.Pro403fs)
|
rs2068566927
|
|
NM_000744.7(CHRNA4):c.1209_1210delinsTT (p.Pro404Ser)
|
rs1064795858
|
|
NM_000744.7(CHRNA4):c.1211C>T (p.Pro404Leu)
|
rs1435870435
|
|
NM_000744.7(CHRNA4):c.1214C>T (p.Ser405Leu)
|
rs1568808891
|
|
NM_000744.7(CHRNA4):c.1216C>A (p.Pro406Thr)
|
rs571283490
|
|
NM_000744.7(CHRNA4):c.1220C>T (p.Ser407Phe)
|
rs761335733
|
|
NM_000744.7(CHRNA4):c.1231C>A (p.Pro411Thr)
|
rs2068565794
|
|
NM_000744.7(CHRNA4):c.1232C>T (p.Pro411Leu)
|
rs779035642
|
|
NM_000744.7(CHRNA4):c.1255G>A (p.Gly419Arg)
|
rs2068565140
|
|
NM_000744.7(CHRNA4):c.1274C>T (p.Pro425Leu)
|
rs561073516
|
|
NM_000744.7(CHRNA4):c.1279G>A (p.Asp427Asn)
|
rs1196580622
|
|
NM_000744.7(CHRNA4):c.1285C>T (p.Leu429Phe)
|
|
|
NM_000744.7(CHRNA4):c.1300C>T (p.Pro434Ser)
|
rs545104411
|
|
NM_000744.7(CHRNA4):c.1306G>A (p.Glu436Lys)
|
|
|
NM_000744.7(CHRNA4):c.1313A>G (p.Glu438Gly)
|
rs2068563339
|
|
NM_000744.7(CHRNA4):c.1325C>T (p.Pro442Leu)
|
|
|
NM_000744.7(CHRNA4):c.1349G>A (p.Arg450His)
|
|
|
NM_000744.7(CHRNA4):c.1355C>T (p.Pro452Leu)
|
rs2068562170
|
|
NM_000744.7(CHRNA4):c.1372C>T (p.Pro458Ser)
|
|
|
NM_000744.7(CHRNA4):c.1373C>A (p.Pro458Gln)
|
rs121912277
|
|
NM_000744.7(CHRNA4):c.1385A>C (p.Lys462Thr)
|
rs1568808487
|
|
NM_000744.7(CHRNA4):c.139G>A (p.Gly47Ser)
|
|
|
NM_000744.7(CHRNA4):c.1400G>A (p.Ser467Asn)
|
|
|
NM_000744.7(CHRNA4):c.1401C>G (p.Ser467Arg)
|
rs45569837
|
|
NM_000744.7(CHRNA4):c.1411A>G (p.Met471Val)
|
rs1568808418
|
|
NM_000744.7(CHRNA4):c.1415C>G (p.Ser472Cys)
|
|
|
NM_000744.7(CHRNA4):c.1418G>A (p.Ser473Asn)
|
rs2068560302
|
|
NM_000744.7(CHRNA4):c.1444G>A (p.Val482Ile)
|
|
|
NM_000744.7(CHRNA4):c.144CAA[1] (p.Asn49del)
|
rs780385531
|
|
NM_000744.7(CHRNA4):c.1453C>T (p.Arg485Trp)
|
rs978124935
|
|
NM_000744.7(CHRNA4):c.147C>G (p.Asn49Lys)
|
|
|
NM_000744.7(CHRNA4):c.1484G>A (p.Arg495Gln)
|
|
|
NM_000744.7(CHRNA4):c.1489G>A (p.Asp497Asn)
|
|
|
NM_000744.7(CHRNA4):c.1496C>A (p.Ala499Asp)
|
rs1191814622
|
|
NM_000744.7(CHRNA4):c.14G>T (p.Gly5Val)
|
rs946142547
|
|
NM_000744.7(CHRNA4):c.14del (p.Gly5fs)
|
rs2068814247
|
|
NM_000744.7(CHRNA4):c.1500dup (p.Glu501fs)
|
|
|
NM_000744.7(CHRNA4):c.1504G>T (p.Ala502Ser)
|
|
|
NM_000744.7(CHRNA4):c.1523_1525dup (p.Gly508dup)
|
rs2068557278
|
|
NM_000744.7(CHRNA4):c.152G>A (p.Trp51Ter)
|
|
|
NM_000744.7(CHRNA4):c.1542C>G (p.Asn514Lys)
|
|
|
NM_000744.7(CHRNA4):c.1547A>G (p.His516Arg)
|
|
|
NM_000744.7(CHRNA4):c.1553C>G (p.Ala518Gly)
|
rs201365294
|
|
NM_000744.7(CHRNA4):c.1553C>T (p.Ala518Val)
|
|
|
NM_000744.7(CHRNA4):c.1574A>G (p.Gln525Arg)
|
rs1445972429
|
|
NM_000744.7(CHRNA4):c.1589A>C (p.Lys530Thr)
|
rs2123470034
|
|
NM_000744.7(CHRNA4):c.1600AAG[1] (p.Lys535del)
|
rs2068554810
|
|
NM_000744.7(CHRNA4):c.1616C>T (p.Ser539Leu)
|
|
|
NM_000744.7(CHRNA4):c.161C>G (p.Pro54Arg)
|
rs2145408375
|
|
NM_000744.7(CHRNA4):c.1622C>T (p.Ser541Phe)
|
|
|
NM_000744.7(CHRNA4):c.1625C>A (p.Pro542Gln)
|
|
|
NM_000744.7(CHRNA4):c.1629C>G (p.Ser543Arg)
|
rs1044396
|
|
NM_000744.7(CHRNA4):c.1631C>T (p.Ala544Val)
|
|
|
NM_000744.7(CHRNA4):c.1635_1636insTGCCACG (p.Val546fs)
|
|
|
NM_000744.7(CHRNA4):c.1645C>G (p.Arg549Gly)
|
rs367658654
|
|
NM_000744.7(CHRNA4):c.1663C>T (p.Pro555Ser)
|
rs757510859
|
|
NM_000744.7(CHRNA4):c.1686_1689del (p.Pro562_Ala563insTer)
|
|
|
NM_000744.7(CHRNA4):c.16C>A (p.Pro6Thr)
|
rs796052312
|
|
NM_000744.7(CHRNA4):c.1700C>G (p.Ala567Gly)
|
rs76895198
|
|
NM_000744.7(CHRNA4):c.1719C>A (p.Tyr573Ter)
|
rs2123469625
|
|
NM_000744.7(CHRNA4):c.1726G>A (p.Asp576Asn)
|
rs537904499
|
|
NM_000744.7(CHRNA4):c.1729C>T (p.His577Tyr)
|
|
|
NM_000744.7(CHRNA4):c.172A>G (p.Ile58Val)
|
rs760044129
|
|
NM_000744.7(CHRNA4):c.1748_1749del (p.Thr583fs)
|
rs772170088
|
|
NM_000744.7(CHRNA4):c.174C>G (p.Ile58Met)
|
rs2068772907
|
|
NM_000744.7(CHRNA4):c.1758+1G>T
|
|
|
NM_000744.7(CHRNA4):c.1758G>A (p.Ser586=)
|
|
|
NM_000744.7(CHRNA4):c.1759-19A>C
|
|
|
NM_000744.7(CHRNA4):c.1762_1764del (p.Lys588del)
|
|
|
NM_000744.7(CHRNA4):c.1777T>G (p.Tyr593Asp)
|
|
|
NM_000744.7(CHRNA4):c.1780G>T (p.Val594Leu)
|
rs370887602
|
|
NM_000744.7(CHRNA4):c.1800C>T (p.Arg600=)
|
rs2068503706
|
|
NM_000744.7(CHRNA4):c.180C>G (p.Asp60Glu)
|
rs112051150
|
|
NM_000744.7(CHRNA4):c.181G>T (p.Val61Leu)
|
rs150451372
|
|
NM_000744.7(CHRNA4):c.1825G>T (p.Val609Phe)
|
rs201168195
|
|
NM_000744.7(CHRNA4):c.183_195dup (p.Phe66fs)
|
|
|
NM_000744.7(CHRNA4):c.1841C>T (p.Thr614Met)
|
|
|
NM_000744.7(CHRNA4):c.1847G>T (p.Gly616Val)
|
rs796052324
|
|
NM_000744.7(CHRNA4):c.184G>A (p.Val62Ile)
|
|
|
NM_000744.7(CHRNA4):c.1854C>G (p.Phe618Leu)
|
rs1568805215
|
|
NM_000744.7(CHRNA4):c.1858C>T (p.Pro620Ser)
|
rs1218865781
|
|
NM_000744.7(CHRNA4):c.1859C>G (p.Pro620Arg)
|
rs754340834
|
|
NM_000744.7(CHRNA4):c.1864T>C (p.Trp622Arg)
|
|
|
NM_000744.7(CHRNA4):c.198C>A (p.Phe66Leu)
|
rs201018244
|
|
NM_000744.7(CHRNA4):c.19G>A (p.Gly7Arg)
|
|
|
NM_000744.7(CHRNA4):c.1A>T (p.Met1Leu)
|
rs1359272155
|
|
NM_000744.7(CHRNA4):c.200G>A (p.Gly67Asp)
|
rs1568819500
|
|
NM_000744.7(CHRNA4):c.20G>A (p.Gly7Glu)
|
|
|
NM_000744.7(CHRNA4):c.210C>A (p.Ile70=)
|
rs765247204
|
|
NM_000744.7(CHRNA4):c.220A>C (p.Ile74Leu)
|
rs2068771449
|
|
NM_000744.7(CHRNA4):c.227T>G (p.Val76Gly)
|
|
|
NM_000744.7(CHRNA4):c.228+6T>A
|
|
|
NM_000744.7(CHRNA4):c.25C>T (p.Pro9Ser)
|
|
|
NM_000744.7(CHRNA4):c.264G>A (p.Trp88Ter)
|
rs2145401994
|
|
NM_000744.7(CHRNA4):c.274-3C>T
|
|
|
NM_000744.7(CHRNA4):c.27_28delinsAG (p.Arg10Gly)
|
|
|
NM_000744.7(CHRNA4):c.28C>G (p.Arg10Gly)
|
rs2068813671
|
|
NM_000744.7(CHRNA4):c.28_29delinsTT (p.Arg10Leu)
|
|
|
NM_000744.7(CHRNA4):c.295C>T (p.Arg99Cys)
|
|
|
NM_000744.7(CHRNA4):c.29_40dup (p.Pro13_Pro14insArgLeuLeuPro)
|
|
|
NM_000744.7(CHRNA4):c.29_43dup (p.Arg10_Pro14dup)
|
rs777630161
|
|
NM_000744.7(CHRNA4):c.2T>C (p.Met1Thr)
|
rs2068814460
|
|
NM_000744.7(CHRNA4):c.301G>A (p.Asp101Asn)
|
rs1427242612
|
|
NM_000744.7(CHRNA4):c.305C>T (p.Pro102Leu)
|
rs759593635
|
|
NM_000744.7(CHRNA4):c.335G>A (p.Arg112His)
|
|
|
NM_000744.7(CHRNA4):c.341C>T (p.Pro114Leu)
|
|
|
NM_000744.7(CHRNA4):c.345C>A (p.Ser115=)
|
rs201033859
|
|
NM_000744.7(CHRNA4):c.348G>C (p.Glu116Asp)
|
rs866334493
|
|
NM_000744.7(CHRNA4):c.373C>T (p.Leu125Phe)
|
rs1568816521
|
|
NM_000744.7(CHRNA4):c.378CAA[1] (p.Asn128del)
|
|
|
NM_000744.7(CHRNA4):c.380A>G (p.Asn127Ser)
|
|
|
NM_000744.7(CHRNA4):c.382_383+1dup
|
rs2145400815
|
|
NM_000744.7(CHRNA4):c.383+3G>A
|
|
|
NM_000744.7(CHRNA4):c.384-3C>G
|
rs894265779
|
|
NM_000744.7(CHRNA4):c.388G>C (p.Asp130His)
|
rs2068589553
|
|
NM_000744.7(CHRNA4):c.389A>G (p.Asp130Gly)
|
|
|
NM_000744.7(CHRNA4):c.38_52del (p.Pro13_Leu17del)
|
rs771936944
|
|
NM_000744.7(CHRNA4):c.391G>T (p.Gly131Trp)
|
|
|
NM_000744.7(CHRNA4):c.403_409del (p.Val135fs)
|
|
|
NM_000744.7(CHRNA4):c.409C>G (p.His137Asp)
|
rs1326365559
|
|
NM_000744.7(CHRNA4):c.410A>G (p.His137Arg)
|
rs1380488577
|
|
NM_000744.7(CHRNA4):c.413T>A (p.Leu138Gln)
|
rs1379403896
|
|
NM_000744.7(CHRNA4):c.419A>G (p.Lys140Arg)
|
|
|
NM_000744.7(CHRNA4):c.42GCT[5] (p.Leu19dup)
|
rs1053984520
|
|
NM_000744.7(CHRNA4):c.431T>G (p.Phe144Cys)
|
|
|
NM_000744.7(CHRNA4):c.431del (p.Phe144fs)
|
rs2068588736
|
|
NM_000744.7(CHRNA4):c.434A>G (p.His145Arg)
|
rs2123473347
|
|
NM_000744.7(CHRNA4):c.439G>T (p.Gly147Trp)
|
rs780556996
|
|
NM_000744.7(CHRNA4):c.443G>A (p.Arg148Gln)
|
|
|
NM_000744.7(CHRNA4):c.448C>T (p.Gln150Ter)
|
rs200747769
|
|
NM_000744.7(CHRNA4):c.44T>C (p.Leu15Pro)
|
rs886044055
|
|
NM_000744.7(CHRNA4):c.466A>G (p.Ile156Val)
|
rs754895704
|
|
NM_000744.7(CHRNA4):c.4G>C (p.Glu2Gln)
|
rs2145412501
|
|
NM_000744.7(CHRNA4):c.505C>T (p.Pro169Ser)
|
|
|
NM_000744.7(CHRNA4):c.506C>G (p.Pro169Arg)
|
rs199519224
|
|
NM_000744.7(CHRNA4):c.506C>T (p.Pro169Leu)
|
rs199519224
|
|
NM_000744.7(CHRNA4):c.507del (p.Phe170fs)
|
rs1250589502
|
|
NM_000744.7(CHRNA4):c.511G>A (p.Asp171Asn)
|
rs1352017376
|
|
NM_000744.7(CHRNA4):c.515A>G (p.Gln172Arg)
|
rs2068586894
|
|
NM_000744.7(CHRNA4):c.522C>A (p.Asn174Lys)
|
rs2068586748
|
|
NM_000744.7(CHRNA4):c.522C>G (p.Asn174Lys)
|
rs2068586748
|
|
NM_000744.7(CHRNA4):c.52_57dup (p.Leu18_Leu19dup)
|
rs2068812649
|
|
NM_000744.7(CHRNA4):c.538G>A (p.Gly180Ser)
|
|
|
NM_000744.7(CHRNA4):c.552C>G (p.Tyr184Ter)
|
rs112301452
|
|
NM_000744.7(CHRNA4):c.565A>G (p.Ile189Val)
|
|
|
NM_000744.7(CHRNA4):c.568G>T (p.Asp190Tyr)
|
rs750232429
|
|
NM_000744.7(CHRNA4):c.57G>A (p.Leu19=)
|
rs927241644
|
|
NM_000744.7(CHRNA4):c.580A>G (p.Met194Val)
|
|
|
NM_000744.7(CHRNA4):c.605A>C (p.Asp202Ala)
|
|
|
NM_000744.7(CHRNA4):c.613G>A (p.Glu205Lys)
|
|
|
NM_000744.7(CHRNA4):c.615G>C (p.Glu205Asp)
|
rs2123472933
|
|
NM_000744.7(CHRNA4):c.622G>A (p.Glu208Lys)
|
rs771249249
|
|
NM_000744.7(CHRNA4):c.629T>C (p.Val210Ala)
|
rs1252975373
|
|
NM_000744.7(CHRNA4):c.631A>G (p.Ile211Val)
|
rs749493840
|
|
NM_000744.7(CHRNA4):c.634G>A (p.Val212Met)
|
|
|
NM_000744.7(CHRNA4):c.643G>A (p.Val215Met)
|
rs918550714
|
|
NM_000744.7(CHRNA4):c.647G>C (p.Gly216Ala)
|
|
|
NM_000744.7(CHRNA4):c.656A>C (p.Asn219Thr)
|
rs201645533
|
|
NM_000744.7(CHRNA4):c.663G>T (p.Arg221Ser)
|
|
|
NM_000744.7(CHRNA4):c.682G>A (p.Glu228Lys)
|
rs1064795157
|
|
NM_000744.7(CHRNA4):c.683A>T (p.Glu228Val)
|
rs1568810474
|
|
NM_000744.7(CHRNA4):c.704A>G (p.Tyr235Cys)
|
|
|
NM_000744.7(CHRNA4):c.721C>G (p.Arg241Gly)
|
|
|
NM_000744.7(CHRNA4):c.727C>A (p.Pro243Thr)
|
rs1568810345
|
|
NM_000744.7(CHRNA4):c.731T>C (p.Leu244Pro)
|
rs2123472530
|
|
NM_000744.7(CHRNA4):c.748C>T (p.Leu250Phe)
|
rs759579810
|
|
NM_000744.7(CHRNA4):c.74G>A (p.Arg25His)
|
|
|
NM_000744.7(CHRNA4):c.755T>C (p.Ile252Thr)
|
rs1601476010
|
|
NM_000744.7(CHRNA4):c.76+1G>A
|
rs2068812210
|
|
NM_000744.7(CHRNA4):c.771C>G (p.Ile257Met)
|
|
|
NM_000744.7(CHRNA4):c.775_840dup (p.Ser280_Val281insCysLeuThrValLeuValPheTyrLeuProSerGluCysGlyGluLysIleThrLeuCysIleSer)
|
|
|
NM_000744.7(CHRNA4):c.778C>T (p.Leu260Phe)
|
|
|
NM_000744.7(CHRNA4):c.77C>T (p.Ala26Val)
|
rs761362001
|
|
NM_000744.7(CHRNA4):c.790G>A (p.Val264Ile)
|
rs2068579848
|
|
NM_000744.7(CHRNA4):c.797A>G (p.Tyr266Cys)
|
|
|
NM_000744.7(CHRNA4):c.800T>G (p.Leu267Arg)
|
rs2068579508
|
|
NM_000744.7(CHRNA4):c.802C>T (p.Pro268Ser)
|
|
|
NM_000744.7(CHRNA4):c.806C>G (p.Ser269Cys)
|
rs2123472338
|
|
NM_000744.7(CHRNA4):c.810G>C (p.Glu270Asp)
|
rs2123472324
|
|
NM_000744.7(CHRNA4):c.810G>T (p.Glu270Asp)
|
|
|
NM_000744.7(CHRNA4):c.81C>A (p.Ser27Arg)
|
rs1211831892
|
|
NM_000744.7(CHRNA4):c.825C>G (p.Ile275Met)
|
|
|
NM_000744.7(CHRNA4):c.830T>C (p.Leu277Pro)
|
rs2068578781
|
|
NM_000744.7(CHRNA4):c.839C>G (p.Ser280Cys)
|
rs121909580
|
|
NM_000744.7(CHRNA4):c.844C>G (p.Leu282Val)
|
rs1601475770
|
|
NM_000744.7(CHRNA4):c.851C>G (p.Ser284Trp)
|
rs28931591
|
|
NM_000744.7(CHRNA4):c.871C>T (p.Leu291Phe)
|
|
|
NM_000744.7(CHRNA4):c.88G>C (p.Val30Leu)
|
rs746557446
|
|
NM_000744.7(CHRNA4):c.890C>T (p.Pro297Leu)
|
|
|
NM_000744.7(CHRNA4):c.8T>A (p.Leu3Gln)
|
rs2145412488
|
|
NM_000744.7(CHRNA4):c.913C>G (p.Leu305Val)
|
rs2123472055
|
|
NM_000744.7(CHRNA4):c.922G>T (p.Glu308Ter)
|
rs1369167310
|
|
NM_000744.7(CHRNA4):c.940A>T (p.Met314Leu)
|
|
|
NM_000744.7(CHRNA4):c.946T>G (p.Phe316Val)
|
|
|
NM_000744.7(CHRNA4):c.950T>A (p.Val317Asp)
|
rs2068575976
|
|
NM_000744.7(CHRNA4):c.953C>A (p.Thr318Asn)
|
rs121912260
|
|
NM_000744.7(CHRNA4):c.956T>A (p.Leu319Gln)
|
|
|
NM_000744.7(CHRNA4):c.956T>C (p.Leu319Pro)
|
rs1315507965
|
|
NM_000744.7(CHRNA4):c.973G>A (p.Val325Ile)
|
|
|
NM_000744.7(CHRNA4):c.979G>C (p.Val327Leu)
|
|
|
NM_000744.7(CHRNA4):c.97C>T (p.Arg33Trp)
|
rs370553755
|
|
NM_000748.3(CHRNB2):c.1003G>A (p.Val335Met)
|
|
|
NM_000748.3(CHRNB2):c.1017C>A (p.Phe339Leu)
|
rs756041212
|
|
NM_000748.3(CHRNB2):c.1033G>A (p.Ala345Thr)
|
rs927693883
|
|
NM_000748.3(CHRNB2):c.1040T>C (p.Leu347Pro)
|
|
|
NM_000748.3(CHRNB2):c.1049A>G (p.Gln350Arg)
|
|
|
NM_000748.3(CHRNB2):c.106C>T (p.Leu36Phe)
|
rs1557850747
|
|
NM_000748.3(CHRNB2):c.1073G>C (p.Arg358Pro)
|
|
|
NM_000748.3(CHRNB2):c.1078C>T (p.Arg360Cys)
|
rs2101521916
|
|
NM_000748.3(CHRNB2):c.1080CCTGCG[3] (p.361LR[3])
|
rs781654245
|
|
NM_000748.3(CHRNB2):c.1088_1093dup (p.361LR[3])
|
rs2101521963
|
|
NM_000748.3(CHRNB2):c.1094G>T (p.Arg365Leu)
|
|
|
NM_000748.3(CHRNB2):c.1096C>T (p.Arg366Cys)
|
|
|
NM_000748.3(CHRNB2):c.1097_1099dup (p.Arg366_Gln367insArg)
|
|
|
NM_000748.3(CHRNB2):c.10C>A (p.Arg4Ser)
|
|
|
NM_000748.3(CHRNB2):c.1100A>G (p.Gln367Arg)
|
|
|
NM_000748.3(CHRNB2):c.1102C>G (p.Arg368Gly)
|
|
|
NM_000748.3(CHRNB2):c.1109G>A (p.Arg370His)
|
rs200483865
|
|
NM_000748.3(CHRNB2):c.1111G>A (p.Glu371Lys)
|
rs1696175893
|
|
NM_000748.3(CHRNB2):c.1111_1118del (p.Glu371fs)
|
|
|
NM_000748.3(CHRNB2):c.1126C>G (p.Leu376Val)
|
|
|
NM_000748.3(CHRNB2):c.1150G>A (p.Ala384Thr)
|
rs2101522239
|
|
NM_000748.3(CHRNB2):c.1169T>C (p.Phe390Ser)
|
rs2101522326
|
|
NM_000748.3(CHRNB2):c.1171G>C (p.Val391Leu)
|
rs770055798
|
|
NM_000748.3(CHRNB2):c.1176C>A (p.Asn392Lys)
|
rs560427247
|
|
NM_000748.3(CHRNB2):c.1190A>C (p.Gln397Pro)
|
|
|
NM_000748.3(CHRNB2):c.1190A>G (p.Gln397Arg)
|
rs200441832
|
|
NM_000748.3(CHRNB2):c.1210G>C (p.Gly404Arg)
|
|
|
NM_000748.3(CHRNB2):c.121C>T (p.Arg41Cys)
|
rs1174834370
|
|
NM_000748.3(CHRNB2):c.1240G>A (p.Gly414Arg)
|
rs1024048381
|
|
NM_000748.3(CHRNB2):c.1240G>C (p.Gly414Arg)
|
rs1024048381
|
|
NM_000748.3(CHRNB2):c.1244G>A (p.Arg415His)
|
rs971173003
|
|
NM_000748.3(CHRNB2):c.1244G>C (p.Arg415Pro)
|
|
|
NM_000748.3(CHRNB2):c.1249G>A (p.Gly417Arg)
|
rs1057520852
|
|
NM_000748.3(CHRNB2):c.1252G>T (p.Glu418Ter)
|
rs1375045864
|
|
NM_000748.3(CHRNB2):c.1256C>A (p.Pro419Gln)
|
rs908723251
|
|
NM_000748.3(CHRNB2):c.1270C>T (p.Leu424Phe)
|
rs2101522745
|
|
NM_000748.3(CHRNB2):c.1282G>A (p.Val428Met)
|
|
|
NM_000748.3(CHRNB2):c.1285G>A (p.Asp429Asn)
|
|
|
NM_000748.3(CHRNB2):c.1288G>C (p.Gly430Arg)
|
|
|
NM_000748.3(CHRNB2):c.1300A>T (p.Ile434Phe)
|
rs1171180526
|
|
NM_000748.3(CHRNB2):c.1316G>A (p.Arg439Gln)
|
|
|
NM_000748.3(CHRNB2):c.1333C>G (p.Gln445Glu)
|
|
|
NM_000748.3(CHRNB2):c.1335G>C (p.Gln445His)
|
rs1557852381
|
|
NM_000748.3(CHRNB2):c.1338_1339insTGGA (p.Val447fs)
|
|
|
NM_000748.3(CHRNB2):c.1343G>C (p.Ser448Thr)
|
|
|
NM_000748.3(CHRNB2):c.1343G>T (p.Ser448Ile)
|
rs774575734
|
|
NM_000748.3(CHRNB2):c.1344_1347del (p.Ser448fs)
|
rs1696260248
|
|
NM_000748.3(CHRNB2):c.1359C>G (p.Tyr453Ter)
|
rs761717685
|
|
NM_000748.3(CHRNB2):c.1364C>T (p.Ala455Val)
|
|
|
NM_000748.3(CHRNB2):c.1378C>T (p.Arg460Cys)
|
rs202079239
|
|
NM_000748.3(CHRNB2):c.1379G>A (p.Arg460His)
|
rs1297214421
|
|
NM_000748.3(CHRNB2):c.1382T>C (p.Leu461Pro)
|
rs1696261435
|
|
NM_000748.3(CHRNB2):c.13T>C (p.Cys5Arg)
|
|
|
NM_000748.3(CHRNB2):c.13T>G (p.Cys5Gly)
|
rs1261047629
|
|
NM_000748.3(CHRNB2):c.1400T>C (p.Val467Ala)
|
|
|
NM_000748.3(CHRNB2):c.1402T>C (p.Phe468Leu)
|
|
|
NM_000748.3(CHRNB2):c.1407_1410del (p.Cys470fs)
|
rs796052332
|
|
NM_000748.3(CHRNB2):c.1417G>A (p.Gly473Ser)
|
rs1696262468
|
|
NM_000748.3(CHRNB2):c.1423A>G (p.Ile475Val)
|
rs202135710
|
|
NM_000748.3(CHRNB2):c.1426G>A (p.Gly476Ser)
|
|
|
NM_000748.3(CHRNB2):c.1430T>C (p.Met477Thr)
|
|
|
NM_000748.3(CHRNB2):c.1438C>T (p.Gln480Ter)
|
|
|
NM_000748.3(CHRNB2):c.1439_1441del (p.Gln480del)
|
|
|
NM_000748.3(CHRNB2):c.1442C>T (p.Pro481Leu)
|
rs1696263260
|
|
NM_000748.3(CHRNB2):c.1451A>G (p.Gln484Arg)
|
rs1275049751
|
|
NM_000748.3(CHRNB2):c.146C>T (p.Ala49Val)
|
|
|
NM_000748.3(CHRNB2):c.1474C>T (p.Leu492Phe)
|
|
|
NM_000748.3(CHRNB2):c.1481C>T (p.Ser494Leu)
|
|
|
NM_000748.3(CHRNB2):c.1487A>C (p.His496Pro)
|
|
|
NM_000748.3(CHRNB2):c.1499G>A (p.Ser500Asn)
|
|
|
NM_000748.3(CHRNB2):c.149C>G (p.Thr50Ser)
|
rs762363770
|
|
NM_000748.3(CHRNB2):c.14G>C (p.Cys5Ser)
|
rs2149365741
|
|
NM_000748.3(CHRNB2):c.1503C>G (p.Ser501=)
|
|
|
NM_000748.3(CHRNB2):c.152A>G (p.Asn51Ser)
|
|
|
NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser)
|
rs1553204015
|
|
NM_000748.3(CHRNB2):c.166G>C (p.Val56Leu)
|
|
|
NM_000748.3(CHRNB2):c.16_31dup (p.Leu11fs)
|
|
|
NM_000748.3(CHRNB2):c.175C>T (p.Gln59Ter)
|
rs1696125297
|
|
NM_000748.3(CHRNB2):c.17G>A (p.Gly6Asp)
|
rs1304588530
|
|
NM_000748.3(CHRNB2):c.184G>A (p.Val62Met)
|
|
|
NM_000748.3(CHRNB2):c.1A>G (p.Met1Val)
|
|
|
NM_000748.3(CHRNB2):c.1A>T (p.Met1Leu)
|
rs2149365728
|
|
NM_000748.3(CHRNB2):c.211-3C>A
|
|
|
NM_000748.3(CHRNB2):c.21del (p.Val8fs)
|
rs2149365744
|
|
NM_000748.3(CHRNB2):c.223C>G (p.Gln75Glu)
|
rs2149366248
|
|
NM_000748.3(CHRNB2):c.22G>C (p.Val8Leu)
|
rs772815972
|
|
NM_000748.3(CHRNB2):c.262G>A (p.Glu88Lys)
|
rs1182581432
|
|
NM_000748.3(CHRNB2):c.281G>C (p.Trp94Ser)
|
rs2101518911
|
|
NM_000748.3(CHRNB2):c.297del (p.Phe99fs)
|
rs1696138351
|
|
NM_000748.3(CHRNB2):c.2T>A (p.Met1Lys)
|
rs1430279652
|
|
NM_000748.3(CHRNB2):c.301A>C (p.Asn101His)
|
rs929185848
|
|
NM_000748.3(CHRNB2):c.301A>G (p.Asn101Asp)
|
rs929185848
|
|
NM_000748.3(CHRNB2):c.306G>A (p.Met102Ile)
|
rs1696138605
|
|
NM_000748.3(CHRNB2):c.313G>A (p.Val105Ile)
|
|
|
NM_000748.3(CHRNB2):c.344C>T (p.Pro115Leu)
|
rs2101519039
|
|
NM_000748.3(CHRNB2):c.365+2T>C
|
rs1440177267
|
|
NM_000748.3(CHRNB2):c.366T>C (p.Asn122=)
|
rs748227150
|
|
NM_000748.3(CHRNB2):c.401A>G (p.Asn134Ser)
|
|
|
NM_000748.3(CHRNB2):c.402T>A (p.Asn134Lys)
|
rs760458701
|
|
NM_000748.3(CHRNB2):c.404C>T (p.Ala135Val)
|
rs1060502835
|
|
NM_000748.3(CHRNB2):c.410T>G (p.Val137Gly)
|
|
|
NM_000748.3(CHRNB2):c.416A>G (p.Tyr139Cys)
|
|
|
NM_000748.3(CHRNB2):c.423C>T (p.Gly141=)
|
rs1696159240
|
|
NM_000748.3(CHRNB2):c.448A>G (p.Ile150Val)
|
rs1557851437
|
|
NM_000748.3(CHRNB2):c.466A>G (p.Lys156Glu)
|
|
|
NM_000748.3(CHRNB2):c.470T>A (p.Ile157Asn)
|
|
|
NM_000748.3(CHRNB2):c.481C>T (p.His161Tyr)
|
rs1282479699
|
|
NM_000748.3(CHRNB2):c.485T>C (p.Phe162Ser)
|
rs1696160348
|
|
NM_000748.3(CHRNB2):c.4G>T (p.Ala2Ser)
|
rs2149365730
|
|
NM_000748.3(CHRNB2):c.50T>A (p.Leu17His)
|
|
|
NM_000748.3(CHRNB2):c.520dup (p.Arg174fs)
|
|
|
NM_000748.3(CHRNB2):c.524C>G (p.Ser175Trp)
|
rs75760566
|
|
NM_000748.3(CHRNB2):c.535G>A (p.Asp179Asn)
|
rs760490640
|
|
NM_000748.3(CHRNB2):c.539G>C (p.Arg180Pro)
|
rs768297928
|
|
NM_000748.3(CHRNB2):c.544del (p.Glu182fs)
|
|
|
NM_000748.3(CHRNB2):c.554T>C (p.Leu185Ser)
|
rs1696161618
|
|
NM_000748.3(CHRNB2):c.571G>T (p.Val191Leu)
|
rs2101520587
|
|
NM_000748.3(CHRNB2):c.578G>T (p.Ser193Ile)
|
rs2101520597
|
|
NM_000748.3(CHRNB2):c.58T>C (p.Cys20Arg)
|
|
|
NM_000748.3(CHRNB2):c.593C>T (p.Thr198Ile)
|
|
|
NM_000748.3(CHRNB2):c.599G>A (p.Ser200Asn)
|
|
|
NM_000748.3(CHRNB2):c.620C>G (p.Ala207Gly)
|
rs201622476
|
|
NM_000748.3(CHRNB2):c.626C>T (p.Pro209Leu)
|
|
|
NM_000748.3(CHRNB2):c.63A>G (p.Ser21=)
|
|
|
NM_000748.3(CHRNB2):c.64+3A>G
|
|
|
NM_000748.3(CHRNB2):c.648del (p.Asp217fs)
|
rs2101520745
|
|
NM_000748.3(CHRNB2):c.649G>A (p.Asp217Asn)
|
|
|
NM_000748.3(CHRNB2):c.65-2A>G
|
|
|
NM_000748.3(CHRNB2):c.65-2del
|
rs1696121118
|
|
NM_000748.3(CHRNB2):c.652G>A (p.Asp218Asn)
|
rs1429118769
|
|
NM_000748.3(CHRNB2):c.653A>C (p.Asp218Ala)
|
rs2101520790
|
|
NM_000748.3(CHRNB2):c.664G>C (p.Val222Leu)
|
rs1453075590
|
|
NM_000748.3(CHRNB2):c.674C>G (p.Thr225Arg)
|
rs201952018
|
|
NM_000748.3(CHRNB2):c.687C>G (p.Ile229Met)
|
rs1244782091
|
|
NM_000748.3(CHRNB2):c.701C>T (p.Pro234Leu)
|
|
|
NM_000748.3(CHRNB2):c.732_733del (p.Val246fs)
|
rs2101520989
|
|
NM_000748.3(CHRNB2):c.754G>A (p.Ala252Thr)
|
rs2101521069
|
|
NM_000748.3(CHRNB2):c.785G>A (p.Cys262Tyr)
|
|
|
NM_000748.3(CHRNB2):c.790G>A (p.Glu264Lys)
|
rs1212070745
|
|
NM_000748.3(CHRNB2):c.791AGA[1] (p.Lys265del)
|
|
|
NM_000748.3(CHRNB2):c.796A>T (p.Met266Leu)
|
rs2101521127
|
|
NM_000748.3(CHRNB2):c.806_807delinsAA (p.Cys269Ter)
|
|
|
NM_000748.3(CHRNB2):c.811_812del (p.Val272fs)
|
|
|
NM_000748.3(CHRNB2):c.820del (p.Leu274fs)
|
|
|
NM_000748.3(CHRNB2):c.824C>T (p.Ala275Val)
|
rs201393088
|
|
NM_000748.3(CHRNB2):c.82A>G (p.Thr28Ala)
|
rs2149366120
|
|
NM_000748.3(CHRNB2):c.833T>C (p.Val278Ala)
|
rs2101521195
|
|
NM_000748.3(CHRNB2):c.844C>T (p.Leu282Phe)
|
rs1387572771
|
|
NM_000748.3(CHRNB2):c.847A>T (p.Ile283Phe)
|
rs1388744144
|
|
NM_000748.3(CHRNB2):c.847dup (p.Ile283fs)
|
rs2101521229
|
|
NM_000748.3(CHRNB2):c.859_867del (p.Val287_Pro289del)
|
rs2101521275
|
|
NM_000748.3(CHRNB2):c.863C>T (p.Pro288Leu)
|
|
|
NM_000748.3(CHRNB2):c.877G>A (p.Asp293Asn)
|
|
|
NM_000748.3(CHRNB2):c.880G>A (p.Val294Met)
|
|
|
NM_000748.3(CHRNB2):c.884C>T (p.Pro295Leu)
|
|
|
NM_000748.3(CHRNB2):c.893G>A (p.Gly298Asp)
|
rs868235334
|
|
NM_000748.3(CHRNB2):c.893G>T (p.Gly298Val)
|
rs868235334
|
|
NM_000748.3(CHRNB2):c.911C>T (p.Thr304Ile)
|
|
|
NM_000748.3(CHRNB2):c.919C>A (p.Leu307Ile)
|
rs200720061
|
|
NM_000748.3(CHRNB2):c.91C>T (p.Arg31Trp)
|
|
|
NM_000748.3(CHRNB2):c.929T>A (p.Phe310Tyr)
|
rs2101521485
|
|
NM_000748.3(CHRNB2):c.930del (p.Ser311fs)
|
rs1696170002
|
|
NM_000748.3(CHRNB2):c.937G>A (p.Val313Ile)
|
rs770557644
|
|
NM_000748.3(CHRNB2):c.946G>T (p.Val316Leu)
|
|
|
NM_000748.3(CHRNB2):c.953T>C (p.Val318Ala)
|
rs2101521543
|
|
NM_000748.3(CHRNB2):c.955C>G (p.Leu319Val)
|
|
|
NM_000748.3(CHRNB2):c.960C>A (p.Asn320Lys)
|
|
|
NM_000748.3(CHRNB2):c.961G>C (p.Val321Leu)
|
|
|
NM_000748.3(CHRNB2):c.970C>T (p.Arg324Cys)
|
|
|
NM_000748.3(CHRNB2):c.971_972delinsTA (p.Arg324Leu)
|
|
|
NM_000748.3(CHRNB2):c.974C>T (p.Ser325Leu)
|
rs1571022546
|
|
NM_000748.3(CHRNB2):c.977C>T (p.Pro326Leu)
|
|
|
NM_000811.3(GABRA6):c.371C>G (p.Ser124Cys)
|
rs1554115593
|
|
NM_000811.3(GABRA6):c.847A>G (p.Met283Val)
|
rs1554115829
|
|
NM_001077350.3(NPRL3):c.1003A>T (p.Met335Leu)
|
rs1405349026
|
|
NM_001077350.3(NPRL3):c.1015A>G (p.Asn339Asp)
|
|
|
NM_001077350.3(NPRL3):c.1024G>A (p.Val342Ile)
|
rs11558704
|
|
NM_001077350.3(NPRL3):c.1024G>C (p.Val342Leu)
|
|
|
NM_001077350.3(NPRL3):c.1031+5G>A
|
|
|
NM_001077350.3(NPRL3):c.1031+7G>A
|
|
|
NM_001077350.3(NPRL3):c.1032G>T (p.Leu344=)
|
|
|
NM_001077350.3(NPRL3):c.1040C>T (p.Pro347Leu)
|
|
|
NM_001077350.3(NPRL3):c.1045G>T (p.Ala349Ser)
|
rs1388346755
|
|
NM_001077350.3(NPRL3):c.1053G>C (p.Gln351His)
|
rs2141907979
|
|
NM_001077350.3(NPRL3):c.1062C>A (p.His354Gln)
|
rs1898813434
|
|
NM_001077350.3(NPRL3):c.1068C>G (p.Phe356Leu)
|
rs1229321872
|
|
NM_001077350.3(NPRL3):c.107C>T (p.Ala36Val)
|
|
|
NM_001077350.3(NPRL3):c.1092T>G (p.Val364=)
|
|
|
NM_001077350.3(NPRL3):c.1106C>G (p.Ser369Cys)
|
rs1050077507
|
|
NM_001077350.3(NPRL3):c.1111_1122dup (p.Pro371_Leu374dup)
|
rs780621579
|
|
NM_001077350.3(NPRL3):c.1120T>C (p.Leu374=)
|
|
|
NM_001077350.3(NPRL3):c.1121T>C (p.Leu374Ser)
|
|
|
NM_001077350.3(NPRL3):c.1148C>G (p.Pro383Arg)
|
rs1898807635
|
|
NM_001077350.3(NPRL3):c.1153G>A (p.Val385Met)
|
rs1898807118
|
|
NM_001077350.3(NPRL3):c.1156C>G (p.Gln386Glu)
|
|
|
NM_001077350.3(NPRL3):c.1161+15C>A
|
|
|
NM_001077350.3(NPRL3):c.1161+5G>A
|
|
|
NM_001077350.3(NPRL3):c.1161+6T>C
|
|
|
NM_001077350.3(NPRL3):c.1162-4G>C
|
rs539175375
|
|
NM_001077350.3(NPRL3):c.116C>A (p.Thr39Lys)
|
|
|
NM_001077350.3(NPRL3):c.118+11G>T
|
|
|
NM_001077350.3(NPRL3):c.118+16G>T
|
|
|
NM_001077350.3(NPRL3):c.118+18G>C
|
|
|
NM_001077350.3(NPRL3):c.118+3_118+6del
|
rs1312109237
|
|
NM_001077350.3(NPRL3):c.118+6T>C
|
|
|
NM_001077350.3(NPRL3):c.1180GTG[1] (p.Val395del)
|
rs992225807
|
|
NM_001077350.3(NPRL3):c.119-3C>G
|
rs1900744785
|
|
NM_001077350.3(NPRL3):c.1191G>A (p.Met397Ile)
|
|
|
NM_001077350.3(NPRL3):c.1198C>A (p.Arg400Ser)
|
rs556683821
|
|
NM_001077350.3(NPRL3):c.119G>A (p.Ser40Asn)
|
|
|
NM_001077350.3(NPRL3):c.119G>C (p.Ser40Thr)
|
rs1277893899
|
|
NM_001077350.3(NPRL3):c.11A>C (p.Asn4Thr)
|
|
|
NM_001077350.3(NPRL3):c.11A>G (p.Asn4Ser)
|
rs759212295
|
|
NM_001077350.3(NPRL3):c.1205T>C (p.Leu402Pro)
|
|
|
NM_001077350.3(NPRL3):c.1208T>C (p.Leu403Pro)
|
rs2141902503
|
|
NM_001077350.3(NPRL3):c.1211T>G (p.Ile404Ser)
|
|
|
NM_001077350.3(NPRL3):c.121A>G (p.Lys41Glu)
|
rs1299719512
|
|
NM_001077350.3(NPRL3):c.1221C>T (p.His407=)
|
|
|
NM_001077350.3(NPRL3):c.1223C>T (p.Thr408Ile)
|
rs762208602
|
|
NM_001077350.3(NPRL3):c.1237A>G (p.Met413Val)
|
rs749424318
|
|
NM_001077350.3(NPRL3):c.1239G>A (p.Met413Ile)
|
rs1057524503
|
|
NM_001077350.3(NPRL3):c.1247C>G (p.Pro416Arg)
|
rs746082270
|
|
NM_001077350.3(NPRL3):c.1252GAG[2] (p.Glu420del)
|
rs765072700
|
|
NM_001077350.3(NPRL3):c.1258G>C (p.Glu420Gln)
|
|
|
NM_001077350.3(NPRL3):c.1261_1281dup (p.Pro421_Asp427dup)
|
rs2141902200
|
|
NM_001077350.3(NPRL3):c.1270C>A (p.Arg424=)
|
|
|
NM_001077350.3(NPRL3):c.1271G>A (p.Arg424Gln)
|
|
|
NM_001077350.3(NPRL3):c.128G>A (p.Arg43His)
|
rs376476299
|
|
NM_001077350.3(NPRL3):c.128G>C (p.Arg43Pro)
|
rs376476299
|
|
NM_001077350.3(NPRL3):c.128G>T (p.Arg43Leu)
|
rs376476299
|
|
NM_001077350.3(NPRL3):c.1291A>T (p.Thr431Ser)
|
rs2141902154
|
|
NM_001077350.3(NPRL3):c.1298G>C (p.Arg433Pro)
|
rs781225056
|
|
NM_001077350.3(NPRL3):c.1302C>G (p.Val434=)
|
|
|
NM_001077350.3(NPRL3):c.1307G>T (p.Gly436Val)
|
rs767317111
|
|
NM_001077350.3(NPRL3):c.1310G>A (p.Arg437His)
|
|
|
NM_001077350.3(NPRL3):c.1314C>A (p.Ser438Arg)
|
rs1336372042
|
|
NM_001077350.3(NPRL3):c.1315C>A (p.Leu439Ile)
|
|
|
NM_001077350.3(NPRL3):c.1322C>T (p.Thr441Met)
|
rs776673140
|
|
NM_001077350.3(NPRL3):c.1334T>C (p.Leu445Pro)
|
|
|
NM_001077350.3(NPRL3):c.1347C>T (p.Ser449=)
|
|
|
NM_001077350.3(NPRL3):c.1351+16C>T
|
|
|
NM_001077350.3(NPRL3):c.1351+19C>G
|
|
|
NM_001077350.3(NPRL3):c.1351+3A>G
|
|
|
NM_001077350.3(NPRL3):c.1352-5C>A
|
rs745831986
|
|
NM_001077350.3(NPRL3):c.1359C>T (p.Ser453=)
|
rs756373989
|
|
NM_001077350.3(NPRL3):c.1360G>A (p.Asp454Asn)
|
|
|
NM_001077350.3(NPRL3):c.1368G>A (p.Met456Ile)
|
|
|
NM_001077350.3(NPRL3):c.1368G>T (p.Met456Ile)
|
|
|
NM_001077350.3(NPRL3):c.136T>C (p.Tyr46His)
|
|
|
NM_001077350.3(NPRL3):c.1374C>T (p.Leu458=)
|
|
|
NM_001077350.3(NPRL3):c.1392C>A (p.Asp464Glu)
|
|
|
NM_001077350.3(NPRL3):c.139G>T (p.Ala47Ser)
|
rs1401901852
|
|
NM_001077350.3(NPRL3):c.1421G>C (p.Gly474Ala)
|
|
|
NM_001077350.3(NPRL3):c.1430C>T (p.Pro477Leu)
|
rs2141899988
|
|
NM_001077350.3(NPRL3):c.1433T>G (p.Leu478Arg)
|
rs774394208
|
|
NM_001077350.3(NPRL3):c.1437C>G (p.Asn479Lys)
|
rs2141899969
|
|
NM_001077350.3(NPRL3):c.1455C>A (p.Asn485Lys)
|
|
|
NM_001077350.3(NPRL3):c.1492A>G (p.Ile498Val)
|
rs1898614224
|
|
NM_001077350.3(NPRL3):c.1492_1512del (p.Ile498_Ala504del)
|
rs2141899739
|
|
NM_001077350.3(NPRL3):c.14C>A (p.Thr5Asn)
|
rs776554504
|
|
NM_001077350.3(NPRL3):c.1505C>T (p.Pro502Leu)
|
|
|
NM_001077350.3(NPRL3):c.1510G>T (p.Ala504Ser)
|
|
|
NM_001077350.3(NPRL3):c.1528C>A (p.Leu510Ile)
|
rs2141899710
|
|
NM_001077350.3(NPRL3):c.1542C>A (p.Ala514=)
|
|
|
NM_001077350.3(NPRL3):c.1544+3_1544+5del
|
rs1898611086
|
|
NM_001077350.3(NPRL3):c.1545G>A (p.Arg515=)
|
rs2141895127
|
|
NM_001077350.3(NPRL3):c.1557C>G (p.Tyr519Ter)
|
rs2141895094
|
|
NM_001077350.3(NPRL3):c.1558T>C (p.Phe520Leu)
|
|
|
NM_001077350.3(NPRL3):c.1561del (p.Arg521fs)
|
rs1596492194
|
|
NM_001077350.3(NPRL3):c.1565del (p.Gly522fs)
|
|
|
NM_001077350.3(NPRL3):c.1567C>A (p.Arg523Ser)
|
rs189283988
|
|
NM_001077350.3(NPRL3):c.1567del (p.Arg523fs)
|
|
|
NM_001077350.3(NPRL3):c.1574A>T (p.His525Leu)
|
rs1898496064
|
|
NM_001077350.3(NPRL3):c.1576C>T (p.Leu526=)
|
|
|
NM_001077350.3(NPRL3):c.1579GAG[1] (p.Glu528del)
|
rs2141894975
|
|
NM_001077350.3(NPRL3):c.1583A>G (p.Glu528Gly)
|
|
|
NM_001077350.3(NPRL3):c.1586T>G (p.Ile529Ser)
|
|
|
NM_001077350.3(NPRL3):c.1589T>C (p.Met530Thr)
|
rs1453118437
|
|
NM_001077350.3(NPRL3):c.1590G>C (p.Met530Ile)
|
rs2141894953
|
|
NM_001077350.3(NPRL3):c.1597G>A (p.Glu533Lys)
|
|
|
NM_001077350.3(NPRL3):c.1597G>C (p.Glu533Gln)
|
|
|
NM_001077350.3(NPRL3):c.1604C>T (p.Thr535Met)
|
|
|
NM_001077350.3(NPRL3):c.1609C>T (p.Arg537Cys)
|
|
|
NM_001077350.3(NPRL3):c.1609_1610delinsTC (p.Arg537Ser)
|
|
|
NM_001077350.3(NPRL3):c.1610G>A (p.Arg537His)
|
rs771288626
|
|
NM_001077350.3(NPRL3):c.1618_1629del (p.Leu540_Leu543del)
|
rs2141894817
|
|
NM_001077350.3(NPRL3):c.161A>G (p.His54Arg)
|
rs1900741473
|
|
NM_001077350.3(NPRL3):c.1628T>C (p.Leu543Pro)
|
rs2141894824
|
|
NM_001077350.3(NPRL3):c.1642C>T (p.Arg548Cys)
|
|
|
NM_001077350.3(NPRL3):c.1645A>G (p.Ser549Gly)
|
rs537555038
|
|
NM_001077350.3(NPRL3):c.1647C>A (p.Ser549Arg)
|
rs1191944943
|
|
NM_001077350.3(NPRL3):c.1647C>G (p.Ser549Arg)
|
|
|
NM_001077350.3(NPRL3):c.1648G>A (p.Val550Met)
|
rs188724206
|
|
NM_001077350.3(NPRL3):c.1648G>C (p.Val550Leu)
|
rs188724206
|
|
NM_001077350.3(NPRL3):c.1648G>T (p.Val550Leu)
|
rs188724206
|
|
NM_001077350.3(NPRL3):c.1654del (p.Val552fs)
|
|
|
NM_001077350.3(NPRL3):c.1666del (p.His556fs)
|
rs2141894715
|
|
NM_001077350.3(NPRL3):c.1667A>C (p.His556Pro)
|
rs1898489910
|
|
NM_001077350.3(NPRL3):c.1673A>G (p.Asp558Gly)
|
|
|
NM_001077350.3(NPRL3):c.1682T>C (p.Ile561Thr)
|
rs1898488842
|
|
NM_001077350.3(NPRL3):c.1699C>G (p.Leu567Val)
|
|
|
NM_001077350.3(NPRL3):c.169G>A (p.Glu57Lys)
|
rs907712162
|
|
NM_001077350.3(NPRL3):c.1708T>C (p.Ter570Arg)
|
|
|
NM_001077350.3(NPRL3):c.173A>C (p.Gln58Pro)
|
|
|
NM_001077350.3(NPRL3):c.177C>A (p.Asp59Glu)
|
rs1048069050
|
|
NM_001077350.3(NPRL3):c.178G>A (p.Gly60Ser)
|
|
|
NM_001077350.3(NPRL3):c.188+5A>C
|
|
|
NM_001077350.3(NPRL3):c.188+5A>G
|
|
|
NM_001077350.3(NPRL3):c.189-3A>G
|
rs1900184532
|
|
NM_001077350.3(NPRL3):c.189G>A (p.Arg63=)
|
|
|
NM_001077350.3(NPRL3):c.19C>A (p.Pro7Thr)
|
rs1901212556
|
|
NM_001077350.3(NPRL3):c.224C>T (p.Thr75Ile)
|
|
|
NM_001077350.3(NPRL3):c.227A>C (p.Lys76Thr)
|
rs1900182442
|
|
NM_001077350.3(NPRL3):c.236T>C (p.Met79Thr)
|
|
|
NM_001077350.3(NPRL3):c.242G>A (p.Gly81Asp)
|
|
|
NM_001077350.3(NPRL3):c.25A>G (p.Ser9Gly)
|
rs760236969
|
|
NM_001077350.3(NPRL3):c.269A>G (p.Asn90Ser)
|
|
|
NM_001077350.3(NPRL3):c.283G>C (p.Gly95Arg)
|
|
|
NM_001077350.3(NPRL3):c.289C>G (p.Pro97Ala)
|
|
|
NM_001077350.3(NPRL3):c.292A>G (p.Thr98Ala)
|
rs1900178756
|
|
NM_001077350.3(NPRL3):c.293C>T (p.Thr98Ile)
|
rs1596528750
|
|
NM_001077350.3(NPRL3):c.298C>G (p.Leu100Val)
|
rs1900178162
|
|
NM_001077350.3(NPRL3):c.310C>A (p.Leu104Met)
|
rs1900177602
|
|
NM_001077350.3(NPRL3):c.318+11C>A
|
|
|
NM_001077350.3(NPRL3):c.318+3A>G
|
rs746765533
|
|
NM_001077350.3(NPRL3):c.319-10T>A
|
rs1900090284
|
|
NM_001077350.3(NPRL3):c.377T>C (p.Val126Ala)
|
rs1024335545
|
|
NM_001077350.3(NPRL3):c.377T>G (p.Val126Gly)
|
rs1024335545
|
|
NM_001077350.3(NPRL3):c.393+3G>C
|
rs1567141885
|
|
NM_001077350.3(NPRL3):c.393+4_393+7del
|
rs757371554
|
|
NM_001077350.3(NPRL3):c.393+5G>A
|
|
|
NM_001077350.3(NPRL3):c.394-16_394-15delinsTT
|
|
|
NM_001077350.3(NPRL3):c.394G>A (p.Ala132Thr)
|
rs1899875190
|
|
NM_001077350.3(NPRL3):c.400G>T (p.Ala134Ser)
|
|
|
NM_001077350.3(NPRL3):c.406C>T (p.Pro136Ser)
|
|
|
NM_001077350.3(NPRL3):c.407C>A (p.Pro136Gln)
|
rs547462000
|
|
NM_001077350.3(NPRL3):c.427C>T (p.His143Tyr)
|
rs764927474
|
|
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro)
|
rs1899872500
|
|
NM_001077350.3(NPRL3):c.439C>G (p.Arg147Gly)
|
|
|
NM_001077350.3(NPRL3):c.440G>A (p.Arg147His)
|
rs1470285968
|
|
NM_001077350.3(NPRL3):c.451A>G (p.Thr151Ala)
|
rs1899870989
|
|
NM_001077350.3(NPRL3):c.458T>G (p.Leu153Arg)
|
|
|
NM_001077350.3(NPRL3):c.465C>G (p.His155Gln)
|
rs774187145
|
|
NM_001077350.3(NPRL3):c.472C>A (p.Arg158Ser)
|
|
|
NM_001077350.3(NPRL3):c.472C>T (p.Arg158Cys)
|
|
|
NM_001077350.3(NPRL3):c.488_490dup (p.Leu163_Thr164insIle)
|
|
|
NM_001077350.3(NPRL3):c.491C>G (p.Thr164Ser)
|
|
|
NM_001077350.3(NPRL3):c.494G>A (p.Arg165Gln)
|
|
|
NM_001077350.3(NPRL3):c.500C>T (p.Ala167Val)
|
|
|
NM_001077350.3(NPRL3):c.529G>T (p.Val177Leu)
|
|
|
NM_001077350.3(NPRL3):c.542C>T (p.Ala181Val)
|
rs1452724103
|
|
NM_001077350.3(NPRL3):c.547+20A>T
|
|
|
NM_001077350.3(NPRL3):c.548-3T>C
|
|
|
NM_001077350.3(NPRL3):c.548-7C>T
|
|
|
NM_001077350.3(NPRL3):c.553G>C (p.Glu185Gln)
|
|
|
NM_001077350.3(NPRL3):c.556G>C (p.Gly186Arg)
|
rs2141946228
|
|
NM_001077350.3(NPRL3):c.559C>T (p.Pro187Ser)
|
rs1899761608
|
|
NM_001077350.3(NPRL3):c.566C>A (p.Ser189Tyr)
|
|
|
NM_001077350.3(NPRL3):c.568C>T (p.Pro190Ser)
|
|
|
NM_001077350.3(NPRL3):c.569C>T (p.Pro190Leu)
|
|
|
NM_001077350.3(NPRL3):c.577C>T (p.His193Tyr)
|
rs1367511037
|
|
NM_001077350.3(NPRL3):c.593G>T (p.Cys198Phe)
|
|
|
NM_001077350.3(NPRL3):c.608A>C (p.Asp203Ala)
|
rs1899757551
|
|
NM_001077350.3(NPRL3):c.610C>T (p.Leu204Phe)
|
|
|
NM_001077350.3(NPRL3):c.614A>T (p.Lys205Met)
|
|
|
NM_001077350.3(NPRL3):c.629+3A>G
|
|
|
NM_001077350.3(NPRL3):c.629+4A>G
|
rs1220187651
|
|
NM_001077350.3(NPRL3):c.629+5G>A
|
rs2141946040
|
|
NM_001077350.3(NPRL3):c.629+8A>G
|
|
|
NM_001077350.3(NPRL3):c.630-3C>G
|
rs2141925516
|
|
NM_001077350.3(NPRL3):c.64C>G (p.Leu22Val)
|
|
|
NM_001077350.3(NPRL3):c.667A>G (p.Ser223Gly)
|
|
|
NM_001077350.3(NPRL3):c.685T>C (p.Phe229Leu)
|
rs1899232122
|
|
NM_001077350.3(NPRL3):c.686_688del (p.Phe229del)
|
|
|
NM_001077350.3(NPRL3):c.691_717del (p.Leu231_Ala239del)
|
rs1300716374
|
|
NM_001077350.3(NPRL3):c.696C>G (p.Pro232=)
|
|
|
NM_001077350.3(NPRL3):c.700A>G (p.Lys234Glu)
|
rs1899230843
|
|
NM_001077350.3(NPRL3):c.730C>T (p.Pro244Ser)
|
rs1225559784
|
|
NM_001077350.3(NPRL3):c.737A>G (p.Glu246Gly)
|
|
|
NM_001077350.3(NPRL3):c.73A>G (p.Arg25Gly)
|
|
|
NM_001077350.3(NPRL3):c.744C>G (p.Ile248Met)
|
rs375592476
|
|
NM_001077350.3(NPRL3):c.747A>T (p.Glu249Asp)
|
rs2141925147
|
|
NM_001077350.3(NPRL3):c.749G>A (p.Arg250Gln)
|
rs947759739
|
|
NM_001077350.3(NPRL3):c.74G>C (p.Arg25Thr)
|
rs1901209994
|
|
NM_001077350.3(NPRL3):c.74G>T (p.Arg25Met)
|
rs1901209994
|
|
NM_001077350.3(NPRL3):c.750G>A (p.Arg250=)
|
|
|
NM_001077350.3(NPRL3):c.760G>A (p.Ala254Thr)
|
|
|
NM_001077350.3(NPRL3):c.761C>T (p.Ala254Val)
|
rs1899225654
|
|
NM_001077350.3(NPRL3):c.766C>T (p.Arg256Cys)
|
rs779688768
|
|
NM_001077350.3(NPRL3):c.768-6T>C
|
|
|
NM_001077350.3(NPRL3):c.772T>G (p.Tyr258Asp)
|
|
|
NM_001077350.3(NPRL3):c.775C>T (p.His259Tyr)
|
|
|
NM_001077350.3(NPRL3):c.776A>G (p.His259Arg)
|
rs1899109777
|
|
NM_001077350.3(NPRL3):c.782T>C (p.Leu261Pro)
|
rs1899109340
|
|
NM_001077350.3(NPRL3):c.795T>G (p.Ser265Arg)
|
|
|
NM_001077350.3(NPRL3):c.804G>C (p.Lys268Asn)
|
|
|
NM_001077350.3(NPRL3):c.812T>C (p.Leu271Pro)
|
|
|
NM_001077350.3(NPRL3):c.821T>C (p.Leu274Pro)
|
|
|
NM_001077350.3(NPRL3):c.832T>G (p.Cys278Gly)
|
|
|
NM_001077350.3(NPRL3):c.842C>T (p.Ala281Val)
|
|
|
NM_001077350.3(NPRL3):c.851G>A (p.Arg284Gln)
|
rs1437185591
|
|
NM_001077350.3(NPRL3):c.860A>C (p.Lys287Thr)
|
|
|
NM_001077350.3(NPRL3):c.863C>T (p.Thr288Ile)
|
|
|
NM_001077350.3(NPRL3):c.8ACA[1] (p.Asn4del)
|
rs2141995584
|
|
NM_001077350.3(NPRL3):c.914C>T (p.Ala305Val)
|
rs2141920111
|
|
NM_001077350.3(NPRL3):c.924+3A>G
|
|
|
NM_001077350.3(NPRL3):c.924+5A>T
|
rs1899101610
|
|
NM_001077350.3(NPRL3):c.924+9C>G
|
|
|
NM_001077350.3(NPRL3):c.925-3C>T
|
rs2141909476
|
|
NM_001077350.3(NPRL3):c.925-8del
|
rs2141909491
|
|
NM_001077350.3(NPRL3):c.925-9T>C
|
|
|
NM_001077350.3(NPRL3):c.92G>A (p.Ser31Asn)
|
rs780716774
|
|
NM_001077350.3(NPRL3):c.967ATC[2] (p.Ile325del)
|
rs1287678265
|
|
NM_001077350.3(NPRL3):c.979C>T (p.Pro327Ser)
|
rs2141909329
|
|
NM_001077350.3(NPRL3):c.991AAC[1] (p.Asn332del)
|
rs1555440242
|
|
NM_001077350.3(NPRL3):c.998T>A (p.Val333Asp)
|
|
|
NM_001077350.3(NPRL3):c.99G>C (p.Glu33Asp)
|
rs2141995418
|
|
NM_001077350.3(NPRL3):c.9C>A (p.Asp3Glu)
|
|
|
NM_001077350.3(NPRL3):c.9C>G (p.Asp3Glu)
|
rs1478358968
|
|
NM_001099403.2(PRDM8):c.1025C>T (p.Pro342Leu)
|
rs1236884779
|
|
NM_001099403.2(PRDM8):c.1042C>A (p.Leu348Met)
|
|
|
NM_001099403.2(PRDM8):c.1079G>T (p.Ser360Ile)
|
|
|
NM_001099403.2(PRDM8):c.1084T>A (p.Phe362Ile)
|
rs2109879102
|
|
NM_001099403.2(PRDM8):c.1084T>C (p.Phe362Leu)
|
|
|
NM_001099403.2(PRDM8):c.1109T>C (p.Leu370Pro)
|
rs1449739343
|
|
NM_001099403.2(PRDM8):c.1142_1204del (p.Ala381_Glu401del)
|
rs2109879206
|
|
NM_001099403.2(PRDM8):c.1166T>C (p.Val389Ala)
|
rs1738600010
|
|
NM_001099403.2(PRDM8):c.1168AAG[1] (p.Lys391del)
|
rs904587436
|
|
NM_001099403.2(PRDM8):c.1173G>T (p.Lys391Asn)
|
rs1292648964
|
|
NM_001099403.2(PRDM8):c.1177G>A (p.Ala393Thr)
|
|
|
NM_001099403.2(PRDM8):c.1184C>T (p.Ala395Val)
|
|
|
NM_001099403.2(PRDM8):c.1210G>A (p.Ala404Thr)
|
rs1422650743
|
|
NM_001099403.2(PRDM8):c.121T>G (p.Phe41Val)
|
rs1199491730
|
|
NM_001099403.2(PRDM8):c.1225G>A (p.Val409Ile)
|
rs1483533129
|
|
NM_001099403.2(PRDM8):c.1229C>A (p.Ala410Asp)
|
|
|
NM_001099403.2(PRDM8):c.1245C>A (p.Asp415Glu)
|
rs1014511302
|
|
NM_001099403.2(PRDM8):c.1249GGC[3] (p.Gly420_Gly421del)
|
rs1024186691
|
|
NM_001099403.2(PRDM8):c.1249GGC[6] (p.Gly421dup)
|
rs1024186691
|
|
NM_001099403.2(PRDM8):c.1249GGC[7] (p.Gly420_Gly421dup)
|
rs1024186691
|
|
NM_001099403.2(PRDM8):c.1270A>C (p.Thr424Pro)
|
|
|
NM_001099403.2(PRDM8):c.1279_1284del (p.Ala427_Ala428del)
|
rs1738619565
|
|
NM_001099403.2(PRDM8):c.1288C>T (p.Pro430Ser)
|
rs979733757
|
|
NM_001099403.2(PRDM8):c.1305G>C (p.Lys435Asn)
|
|
|
NM_001099403.2(PRDM8):c.1336C>T (p.Pro446Ser)
|
rs1738630893
|
|
NM_001099403.2(PRDM8):c.1343G>C (p.Arg448Pro)
|
|
|
NM_001099403.2(PRDM8):c.1350G>T (p.Glu450Asp)
|
rs1578265647
|
|
NM_001099403.2(PRDM8):c.1436G>A (p.Gly479Asp)
|
rs1560479017
|
|
NM_001099403.2(PRDM8):c.1441G>C (p.Gly481Arg)
|
|
|
NM_001099403.2(PRDM8):c.1447G>A (p.Ala483Thr)
|
rs544862921
|
|
NM_001099403.2(PRDM8):c.1454G>A (p.Gly485Asp)
|
rs1441323262
|
|
NM_001099403.2(PRDM8):c.1455_1463del (p.483AGG[1])
|
|
|
NM_001099403.2(PRDM8):c.1465G>C (p.Gly489Arg)
|
|
|
NM_001099403.2(PRDM8):c.1466G>T (p.Gly489Val)
|
rs1379672825
|
|
NM_001099403.2(PRDM8):c.1468C>G (p.Gln490Glu)
|
rs1560479209
|
|
NM_001099403.2(PRDM8):c.1474G>A (p.Ala492Thr)
|
rs1560479219
|
|
NM_001099403.2(PRDM8):c.1478C>G (p.Ala493Gly)
|
|
|
NM_001099403.2(PRDM8):c.1481C>G (p.Ser494Trp)
|
rs1738658290
|
|
NM_001099403.2(PRDM8):c.1508A>G (p.Gln503Arg)
|
|
|
NM_001099403.2(PRDM8):c.1511_1531dup (p.Gln510_Leu511insProAlaArgSerPheSerGln)
|
|
|
NM_001099403.2(PRDM8):c.1526C>T (p.Ser509Leu)
|
|
|
NM_001099403.2(PRDM8):c.1535C>A (p.Ser512Tyr)
|
|
|
NM_001099403.2(PRDM8):c.1552C>T (p.Gln518Ter)
|
rs1738669010
|
|
NM_001099403.2(PRDM8):c.1562G>A (p.Gly521Asp)
|
rs778713373
|
|
NM_001099403.2(PRDM8):c.1573C>G (p.Pro525Ala)
|
rs575215294
|
|
NM_001099403.2(PRDM8):c.1579C>T (p.His527Tyr)
|
rs2109880022
|
|
NM_001099403.2(PRDM8):c.1615C>T (p.Pro539Ser)
|
rs755993425
|
|
NM_001099403.2(PRDM8):c.1634T>C (p.Leu545Pro)
|
rs2109880158
|
|
NM_001099403.2(PRDM8):c.163A>G (p.Ile55Val)
|
rs2109875752
|
|
NM_001099403.2(PRDM8):c.1646T>G (p.Leu549Arg)
|
rs1414709299
|
|
NM_001099403.2(PRDM8):c.1649A>C (p.Gln550Pro)
|
|
|
NM_001099403.2(PRDM8):c.1655C>T (p.Ala552Val)
|
rs559909369
|
|
NM_001099403.2(PRDM8):c.1657G>A (p.Ala553Thr)
|
rs867590589
|
|
NM_001099403.2(PRDM8):c.1693G>A (p.Gly565Ser)
|
rs866625939
|
|
NM_001099403.2(PRDM8):c.1693GGC[5] (p.Gly568dup)
|
rs756781919
|
|
NM_001099403.2(PRDM8):c.172A>G (p.Ile58Val)
|
|
|
NM_001099403.2(PRDM8):c.1736C>T (p.Thr579Ile)
|
rs1738703576
|
|
NM_001099403.2(PRDM8):c.1739C>T (p.Ala580Val)
|
rs1325853079
|
|
NM_001099403.2(PRDM8):c.1744T>C (p.Trp582Arg)
|
rs1738705118
|
|
NM_001099403.2(PRDM8):c.1761_1787del (p.Ala590_Ala598del)
|
rs750030014
|
|
NM_001099403.2(PRDM8):c.1766C>T (p.Ala589Val)
|
|
|
NM_001099403.2(PRDM8):c.1767_1775dup (p.Ala596_Ala598dup)
|
rs1480528424
|
|
NM_001099403.2(PRDM8):c.1767_1787del (p.Ala592_Ala598del)
|
rs1738710271
|
|
NM_001099403.2(PRDM8):c.1770_1781dup (p.Ala595_Ala598dup)
|
rs1044242742
|
|
NM_001099403.2(PRDM8):c.1777G>C (p.Ala593Pro)
|
rs1461303254
|
|
NM_001099403.2(PRDM8):c.1779_1784dup (p.Ala597_Ala598dup)
|
rs1395259146
|
|
NM_001099403.2(PRDM8):c.1782GGC[4] (p.Ala598dup)
|
rs770253118
|
|
NM_001099403.2(PRDM8):c.1790C>T (p.Ala597Val)
|
|
|
NM_001099403.2(PRDM8):c.17T>A (p.Ile6Asn)
|
rs1738314211
|
|
NM_001099403.2(PRDM8):c.1805AGCTGC[1] (p.602QL[1])
|
rs777876948
|
|
NM_001099403.2(PRDM8):c.1838C>G (p.Pro613Arg)
|
rs1553906552
|
|
NM_001099403.2(PRDM8):c.1871A>C (p.Gln624Pro)
|
|
|
NM_001099403.2(PRDM8):c.1874A>G (p.Asn625Ser)
|
rs1738732855
|
|
NM_001099403.2(PRDM8):c.1897T>G (p.Ser633Ala)
|
rs2109880734
|
|
NM_001099403.2(PRDM8):c.192C>A (p.Asp64Glu)
|
rs1353802596
|
|
NM_001099403.2(PRDM8):c.1951_1952delinsAT (p.Glu651Met)
|
rs1578268165
|
|
NM_001099403.2(PRDM8):c.1967C>T (p.Pro656Leu)
|
rs780244125
|
|
NM_001099403.2(PRDM8):c.2057C>G (p.Thr686Ser)
|
rs1560481395
|
|
NM_001099403.2(PRDM8):c.2060C>G (p.Ser687Trp)
|
rs2109880891
|
|
NM_001099403.2(PRDM8):c.224A>T (p.Asp75Val)
|
rs2109876937
|
|
NM_001099403.2(PRDM8):c.250G>A (p.Glu84Lys)
|
rs1738421294
|
|
NM_001099403.2(PRDM8):c.259A>G (p.Met87Val)
|
|
|
NM_001099403.2(PRDM8):c.328G>A (p.Gly110Arg)
|
rs199746703
|
|
NM_001099403.2(PRDM8):c.331C>G (p.Gln111Glu)
|
|
|
NM_001099403.2(PRDM8):c.34G>A (p.Asp12Asn)
|
rs768984964
|
|
NM_001099403.2(PRDM8):c.36T>G (p.Asp12Glu)
|
|
|
NM_001099403.2(PRDM8):c.424C>T (p.Pro142Ser)
|
|
|
NM_001099403.2(PRDM8):c.441_444del (p.Asn147fs)
|
rs2109877216
|
|
NM_001099403.2(PRDM8):c.502T>C (p.Phe168Leu)
|
|
|
NM_001099403.2(PRDM8):c.506C>T (p.Pro169Leu)
|
rs775462847
|
|
NM_001099403.2(PRDM8):c.532T>C (p.Cys178Arg)
|
rs2109877963
|
|
NM_001099403.2(PRDM8):c.552C>A (p.Ser184Arg)
|
rs767040118
|
|
NM_001099403.2(PRDM8):c.556G>C (p.Asp186His)
|
|
|
NM_001099403.2(PRDM8):c.560T>C (p.Ile187Thr)
|
rs1191905970
|
|
NM_001099403.2(PRDM8):c.581G>A (p.Gly194Asp)
|
|
|
NM_001099403.2(PRDM8):c.589G>T (p.Val197Leu)
|
rs1578262845
|
|
NM_001099403.2(PRDM8):c.58C>A (p.Gln20Lys)
|
rs766294833
|
|
NM_001099403.2(PRDM8):c.593G>A (p.Gly198Asp)
|
rs776620537
|
|
NM_001099403.2(PRDM8):c.611G>A (p.Gly204Asp)
|
rs2109878137
|
|
NM_001099403.2(PRDM8):c.612CGG[5] (p.Gly209dup)
|
rs769029025
|
|
NM_001099403.2(PRDM8):c.620G>A (p.Gly207Asp)
|
rs764059996
|
|
NM_001099403.2(PRDM8):c.634CAG[7] (p.Gln217dup)
|
rs748593482
|
|
NM_001099403.2(PRDM8):c.649C>A (p.Gln217Lys)
|
|
|
NM_001099403.2(PRDM8):c.649C>G (p.Gln217Glu)
|
|
|
NM_001099403.2(PRDM8):c.658C>T (p.Pro220Ser)
|
rs1738523106
|
|
NM_001099403.2(PRDM8):c.687A>C (p.Lys229Asn)
|
rs1553905669
|
|
NM_001099403.2(PRDM8):c.710C>T (p.Pro237Leu)
|
rs1738530929
|
|
NM_001099403.2(PRDM8):c.715C>A (p.Pro239Thr)
|
rs760107518
|
|
NM_001099403.2(PRDM8):c.728G>T (p.Ser243Ile)
|
rs764408979
|
|
NM_001099403.2(PRDM8):c.736C>A (p.Pro246Thr)
|
rs1330185577
|
|
NM_001099403.2(PRDM8):c.736C>T (p.Pro246Ser)
|
rs1330185577
|
|
NM_001099403.2(PRDM8):c.740C>G (p.Ser247Cys)
|
rs781560136
|
|
NM_001099403.2(PRDM8):c.761G>C (p.Ser254Thr)
|
rs1738540197
|
|
NM_001099403.2(PRDM8):c.796A>T (p.Arg266Trp)
|
|
|
NM_001099403.2(PRDM8):c.850_861del (p.Ser284_Ser287del)
|
rs1455395711
|
|
NM_001099403.2(PRDM8):c.859AGCGGC[1] (p.285SG[2])
|
rs763199170
|
|
NM_001099403.2(PRDM8):c.85G>A (p.Val29Ile)
|
|
|
NM_001099403.2(PRDM8):c.865_873dup (p.Gly291_Gly292insSerGlyGly)
|
|
|
NM_001099403.2(PRDM8):c.865_876dup (p.Ser289_Gly292dup)
|
rs771118168
|
|
NM_001099403.2(PRDM8):c.868GGC[2] (p.Gly292_Gly294del)
|
rs752636419
|
|
NM_001099403.2(PRDM8):c.868GGC[6] (p.Gly294dup)
|
rs752636419
|
|
NM_001099403.2(PRDM8):c.868GGC[7] (p.Gly293_Gly294dup)
|
rs752636419
|
|
NM_001099403.2(PRDM8):c.868GGC[8] (p.Gly292_Gly294dup)
|
rs752636419
|
|
NM_001099403.2(PRDM8):c.877G>A (p.Gly293Ser)
|
rs1738555644
|
|
NM_001099403.2(PRDM8):c.880G>T (p.Gly294Cys)
|
rs1738555862
|
|
NM_001099403.2(PRDM8):c.886C>T (p.Gln296Ter)
|
|
|
NM_001099403.2(PRDM8):c.895G>C (p.Glu299Gln)
|
rs1294279847
|
|
NM_001099403.2(PRDM8):c.901A>G (p.Ser301Gly)
|
rs2109878731
|
|
NM_001099403.2(PRDM8):c.904C>A (p.Pro302Thr)
|
rs1357775685
|
|
NM_001099403.2(PRDM8):c.929G>T (p.Gly310Val)
|
|
|
NM_001099403.2(PRDM8):c.956A>C (p.Glu319Ala)
|
rs1234825510
|
|
NM_001099403.2(PRDM8):c.995G>A (p.Gly332Asp)
|
|
|
NM_001099403.2(PRDM8):c.998G>T (p.Arg333Leu)
|
rs1323000516
|
|
NM_001112741.2(KCNC1):c.1009A>C (p.Thr337Pro)
|
|
|
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)
|
rs1849236683
|
|
NM_001112741.2(KCNC1):c.1058C>T (p.Ala353Val)
|
|
|
NM_001112741.2(KCNC1):c.1078G>A (p.Ala360Thr)
|
|
|
NM_001112741.2(KCNC1):c.1087A>G (p.Ile363Val)
|
|
|
NM_001112741.2(KCNC1):c.1096G>T (p.Ala366Ser)
|
|
|
NM_001112741.2(KCNC1):c.1121A>G (p.Asn374Ser)
|
|
|
NM_001112741.2(KCNC1):c.1154A>C (p.Lys385Thr)
|
rs1554991360
|
|
NM_001112741.2(KCNC1):c.1204G>A (p.Gly402Ser)
|
|
|
NM_001112741.2(KCNC1):c.1211G>A (p.Gly404Glu)
|
|
|
NM_001112741.2(KCNC1):c.1223C>T (p.Pro408Leu)
|
rs1355766508
|
|
NM_001112741.2(KCNC1):c.1252G>T (p.Ala418Ser)
|
rs1849239426
|
|
NM_001112741.2(KCNC1):c.1261G>A (p.Ala421Thr)
|
rs1565162836
|
|
NM_001112741.2(KCNC1):c.1267G>T (p.Ala423Ser)
|
rs2133805436
|
|
NM_001112741.2(KCNC1):c.1268C>T (p.Ala423Val)
|
|
|
NM_001112741.2(KCNC1):c.1271G>C (p.Gly424Ala)
|
|
|
NM_001112741.2(KCNC1):c.1273G>A (p.Val425Met)
|
rs1085307785
|
|
NM_001112741.2(KCNC1):c.1285G>A (p.Ala429Thr)
|
rs2133805458
|
|
NM_001112741.2(KCNC1):c.1290G>T (p.Met430Ile)
|
|
|
NM_001112741.2(KCNC1):c.1300G>C (p.Val434Leu)
|
rs1849240404
|
|
NM_001112741.2(KCNC1):c.130A>G (p.Ser44Gly)
|
|
|
NM_001112741.2(KCNC1):c.1321A>T (p.Met441Leu)
|
rs1849240546
|
|
NM_001112741.2(KCNC1):c.1331C>T (p.Ser444Phe)
|
|
|
NM_001112741.2(KCNC1):c.133C>T (p.His45Tyr)
|
rs1470613305
|
|
NM_001112741.2(KCNC1):c.134A>G (p.His45Arg)
|
|
|
NM_001112741.2(KCNC1):c.1370A>T (p.Lys457Met)
|
|
|
NM_001112741.2(KCNC1):c.1372A>C (p.Lys458Gln)
|
|
|
NM_001112741.2(KCNC1):c.1378A>G (p.Ile460Val)
|
|
|
NM_001112741.2(KCNC1):c.1386del (p.Pro463fs)
|
rs2133805531
|
|
NM_001112741.2(KCNC1):c.138C>G (p.Phe46Leu)
|
rs1848763448
|
|
NM_001112741.2(KCNC1):c.1399G>C (p.Gly467Arg)
|
rs1477026732
|
|
NM_001112741.2(KCNC1):c.1419A>T (p.Lys473Asn)
|
rs2133805555
|
|
NM_001112741.2(KCNC1):c.1421C>A (p.Ser474Tyr)
|
rs1554991422
|
|
NM_001112741.2(KCNC1):c.1421C>G (p.Ser474Cys)
|
rs1554991422
|
|
NM_001112741.2(KCNC1):c.1430A>G (p.Asn477Ser)
|
rs1849241725
|
|
NM_001112741.2(KCNC1):c.1438C>A (p.His480Asn)
|
rs1554991425
|
|
NM_001112741.2(KCNC1):c.1460C>G (p.Thr487Arg)
|
|
|
NM_001112741.2(KCNC1):c.1466C>T (p.Pro489Leu)
|
rs772473741
|
|
NM_001112741.2(KCNC1):c.1494T>G (p.Ile498Met)
|
rs761924422
|
|
NM_001112741.2(KCNC1):c.1501G>C (p.Ala501Pro)
|
|
|
NM_001112741.2(KCNC1):c.1504G>A (p.Asp502Asn)
|
rs1849242580
|
|
NM_001112741.2(KCNC1):c.1505A>G (p.Asp502Gly)
|
rs1590109843
|
|
NM_001112741.2(KCNC1):c.1524G>T (p.Glu508Asp)
|
rs767680364
|
|
NM_001112741.2(KCNC1):c.1525G>A (p.Val509Met)
|
rs2133810389
|
|
NM_001112741.2(KCNC1):c.1529C>T (p.Ala510Val)
|
rs1849322367
|
|
NM_001112741.2(KCNC1):c.1532A>G (p.Lys511Arg)
|
rs2133810396
|
|
NM_001112741.2(KCNC1):c.1534G>C (p.Ala512Pro)
|
rs777209898
|
|
NM_001112741.2(KCNC1):c.1544C>A (p.Ala515Glu)
|
rs917512311
|
|
NM_001112741.2(KCNC1):c.1544C>T (p.Ala515Val)
|
rs917512311
|
|
NM_001112741.2(KCNC1):c.1567G>A (p.Asp523Asn)
|
rs2133810423
|
|
NM_001112741.2(KCNC1):c.1573G>A (p.Ala525Thr)
|
|
|
NM_001112741.2(KCNC1):c.1591G>A (p.Gly531Ser)
|
|
|
NM_001112741.2(KCNC1):c.1621G>C (p.Glu541Gln)
|
rs896883949
|
|
NM_001112741.2(KCNC1):c.1625G>A (p.Arg542Lys)
|
rs1021551048
|
|
NM_001112741.2(KCNC1):c.1625G>T (p.Arg542Ile)
|
rs1021551048
|
|
NM_001112741.2(KCNC1):c.1633C>T (p.Pro545Ser)
|
|
|
NM_001112741.2(KCNC1):c.1647A>T (p.Leu549Phe)
|
|
|
NM_001112741.2(KCNC1):c.1648T>A (p.Ser550Thr)
|
rs2133810488
|
|
NM_001112741.2(KCNC1):c.1648T>C (p.Ser550Pro)
|
rs2133810488
|
|
NM_001112741.2(KCNC1):c.1649C>T (p.Ser550Leu)
|
rs1849324263
|
|
NM_001112741.2(KCNC1):c.1651A>C (p.Thr551Pro)
|
|
|
NM_001112741.2(KCNC1):c.1654G>A (p.Gly552Arg)
|
rs755386451
|
|
NM_001112741.2(KCNC1):c.1654G>C (p.Gly552Arg)
|
rs755386451
|
|
NM_001112741.2(KCNC1):c.1660T>G (p.Tyr554Asp)
|
rs1167541162
|
|
NM_001112741.2(KCNC1):c.1662C>A (p.Tyr554Ter)
|
|
|
NM_001112741.2(KCNC1):c.1673C>T (p.Pro558Leu)
|
rs749270474
|
|
NM_001112741.2(KCNC1):c.16G>C (p.Glu6Gln)
|
rs2133773929
|
|
NM_001112741.2(KCNC1):c.1711C>T (p.Pro571Ser)
|
|
|
NM_001112741.2(KCNC1):c.1731G>C (p.Met577Ile)
|
|
|
NM_001112741.2(KCNC1):c.1733C>T (p.Pro578Leu)
|
rs1361289047
|
|
NM_001112741.2(KCNC1):c.1748G>A (p.Arg583Lys)
|
|
|
NM_001112741.2(KCNC1):c.176G>A (p.Arg59His)
|
rs2133774134
|
|
NM_001112741.2(KCNC1):c.223A>G (p.Lys75Glu)
|
rs1565152713
|
|
NM_001112741.2(KCNC1):c.256C>T (p.Leu86Phe)
|
|
|
NM_001112741.2(KCNC1):c.320T>C (p.Met107Thr)
|
|
|
NM_001112741.2(KCNC1):c.391G>A (p.Ala131Thr)
|
|
|
NM_001112741.2(KCNC1):c.392C>A (p.Ala131Asp)
|
rs1848765901
|
|
NM_001112741.2(KCNC1):c.400_414del (p.Ala134_Gly138del)
|
|
|
NM_001112741.2(KCNC1):c.401C>T (p.Ala134Val)
|
|
|
NM_001112741.2(KCNC1):c.409G>A (p.Asp137Asn)
|
rs1848766389
|
|
NM_001112741.2(KCNC1):c.423C>G (p.Asp141Glu)
|
|
|
NM_001112741.2(KCNC1):c.428G>A (p.Gly143Asp)
|
rs1848766892
|
|
NM_001112741.2(KCNC1):c.435C>T (p.Gly145=)
|
rs767598381
|
|
NM_001112741.2(KCNC1):c.439G>A (p.Asp147Asn)
|
|
|
NM_001112741.2(KCNC1):c.441C>G (p.Asp147Glu)
|
rs1279299321
|
|
NM_001112741.2(KCNC1):c.479C>T (p.Ser160Phe)
|
|
|
NM_001112741.2(KCNC1):c.486T>G (p.Asp162Glu)
|
|
|
NM_001112741.2(KCNC1):c.487G>A (p.Gly163Ser)
|
rs570508576
|
|
NM_001112741.2(KCNC1):c.497G>A (p.Gly166Asp)
|
rs1848768219
|
|
NM_001112741.2(KCNC1):c.499G>T (p.Gly167Cys)
|
rs1274575581
|
|
NM_001112741.2(KCNC1):c.500G>A (p.Gly167Asp)
|
rs780758127
|
|
NM_001112741.2(KCNC1):c.512G>A (p.Arg171His)
|
|
|
NM_001112741.2(KCNC1):c.526A>T (p.Ile176Phe)
|
|
|
NM_001112741.2(KCNC1):c.528C>G (p.Ile176Met)
|
|
|
NM_001112741.2(KCNC1):c.535C>T (p.Leu179Phe)
|
|
|
NM_001112741.2(KCNC1):c.548C>G (p.Pro183Arg)
|
rs1848768884
|
|
NM_001112741.2(KCNC1):c.554C>T (p.Ser185Leu)
|
rs1565152898
|
|
NM_001112741.2(KCNC1):c.563A>G (p.Tyr188Cys)
|
rs1027286161
|
|
NM_001112741.2(KCNC1):c.594C>G (p.Phe198Leu)
|
|
|
NM_001112741.2(KCNC1):c.611T>C (p.Ile204Thr)
|
rs1554991304
|
|
NM_001112741.2(KCNC1):c.637G>A (p.Glu213Lys)
|
|
|
NM_001112741.2(KCNC1):c.640C>A (p.Arg214Ser)
|
|
|
NM_001112741.2(KCNC1):c.640C>T (p.Arg214Cys)
|
rs772042572
|
|
NM_001112741.2(KCNC1):c.641G>A (p.Arg214His)
|
|
|
NM_001112741.2(KCNC1):c.649C>T (p.Pro217Ser)
|
|
|
NM_001112741.2(KCNC1):c.655G>A (p.Val219Met)
|
|
|
NM_001112741.2(KCNC1):c.665C>T (p.Thr222Met)
|
|
|
NM_001112741.2(KCNC1):c.679G>A (p.Val227Ile)
|
rs1590106427
|
|
NM_001112741.2(KCNC1):c.683G>A (p.Arg228His)
|
rs200873319
|
|
NM_001112741.2(KCNC1):c.683G>C (p.Arg228Pro)
|
rs200873319
|
|
NM_001112741.2(KCNC1):c.68G>A (p.Arg23His)
|
rs1158193192
|
|
NM_001112741.2(KCNC1):c.692C>T (p.Thr231Met)
|
rs1554991314
|
|
NM_001112741.2(KCNC1):c.700C>T (p.Arg234Cys)
|
|
|
NM_001112741.2(KCNC1):c.702C>G (p.Arg234=)
|
rs1849232973
|
|
NM_001112741.2(KCNC1):c.706T>C (p.Tyr236His)
|
rs1849232996
|
|
NM_001112741.2(KCNC1):c.707A>G (p.Tyr236Cys)
|
|
|
NM_001112741.2(KCNC1):c.710G>T (p.Arg237Leu)
|
|
|
NM_001112741.2(KCNC1):c.71C>G (p.Ser24Trp)
|
|
|
NM_001112741.2(KCNC1):c.722C>G (p.Thr241Arg)
|
|
|
NM_001112741.2(KCNC1):c.728C>A (p.Ala243Asp)
|
|
|
NM_001112741.2(KCNC1):c.742A>G (p.Ile248Val)
|
|
|
NM_001112741.2(KCNC1):c.74C>T (p.Thr25Ile)
|
|
|
NM_001112741.2(KCNC1):c.775G>A (p.Glu259Lys)
|
rs1849234046
|
|
NM_001112741.2(KCNC1):c.788G>A (p.Arg263His)
|
rs775163829
|
|
NM_001112741.2(KCNC1):c.793A>G (p.Ile265Val)
|
|
|
NM_001112741.2(KCNC1):c.805A>G (p.Asn269Asp)
|
|
|
NM_001112741.2(KCNC1):c.859C>A (p.Leu287Met)
|
rs1849234887
|
|
NM_001112741.2(KCNC1):c.90C>A (p.Pro30=)
|
rs1848762536
|
|
NM_001112741.2(KCNC1):c.916G>A (p.Val306Met)
|
rs369830206
|
|
NM_001112741.2(KCNC1):c.916G>T (p.Val306Leu)
|
rs369830206
|
|
NM_001112741.2(KCNC1):c.91G>A (p.Gly31Ser)
|
rs2133774003
|
|
NM_001112741.2(KCNC1):c.958del (p.Arg320fs)
|
rs2133805185
|
|
NM_001112741.2(KCNC1):c.983T>C (p.Phe328Ser)
|
|
|
NM_001122752.2(SERPINI1):c.1006G>A (p.Ala336Thr)
|
rs1268255256
|
|
NM_001122752.2(SERPINI1):c.1039G>T (p.Glu347Ter)
|
rs1560020073
|
|
NM_001122752.2(SERPINI1):c.1046C>T (p.Ser349Leu)
|
|
|
NM_001122752.2(SERPINI1):c.106C>T (p.Arg36Cys)
|
rs61735306
|
|
NM_001122752.2(SERPINI1):c.1071G>A (p.Met357Ile)
|
rs1168773849
|
|
NM_001122752.2(SERPINI1):c.1071G>C (p.Met357Ile)
|
rs1168773849
|
|
NM_001122752.2(SERPINI1):c.1097T>C (p.Leu366Pro)
|
|
|
NM_001122752.2(SERPINI1):c.109C>T (p.Leu37Phe)
|
rs1727416167
|
|
NM_001122752.2(SERPINI1):c.10C>T (p.Leu4Phe)
|
rs1483914626
|
|
NM_001122752.2(SERPINI1):c.1135C>T (p.Leu379Phe)
|
|
|
NM_001122752.2(SERPINI1):c.1139T>C (p.Ile380Thr)
|
rs1560020646
|
|
NM_001122752.2(SERPINI1):c.1157-10A>G
|
|
|
NM_001122752.2(SERPINI1):c.1157G>A (p.Gly386Asp)
|
|
|
NM_001122752.2(SERPINI1):c.1162A>C (p.Ile388Leu)
|
rs1712477543
|
|
NM_001122752.2(SERPINI1):c.1173G>C (p.Met391Ile)
|
rs1370761997
|
|
NM_001122752.2(SERPINI1):c.1178G>A (p.Arg393Gln)
|
|
|
NM_001122752.2(SERPINI1):c.1183A>C (p.Met395Leu)
|
|
|
NM_001122752.2(SERPINI1):c.1184T>C (p.Met395Thr)
|
rs761969364
|
|
NM_001122752.2(SERPINI1):c.1202A>G (p.Asn401Ser)
|
rs2108576523
|
|
NM_001122752.2(SERPINI1):c.1225G>C (p.Glu409Gln)
|
rs777674608
|
|
NM_001122752.2(SERPINI1):c.1231dup (p.Ter411LeuextTer?)
|
rs2108576541
|
|
NM_001122752.2(SERPINI1):c.137T>C (p.Ile46Thr)
|
rs2108556293
|
|
NM_001122752.2(SERPINI1):c.140T>C (p.Leu47Pro)
|
|
|
NM_001122752.2(SERPINI1):c.14G>T (p.Gly5Val)
|
|
|
NM_001122752.2(SERPINI1):c.152T>C (p.Leu51Ser)
|
rs2108556315
|
|
NM_001122752.2(SERPINI1):c.158T>C (p.Ile53Thr)
|
|
|
NM_001122752.2(SERPINI1):c.173G>A (p.Gly58Glu)
|
|
|
NM_001122752.2(SERPINI1):c.175A>G (p.Met59Val)
|
rs1727418833
|
|
NM_001122752.2(SERPINI1):c.200C>A (p.Ser67Tyr)
|
rs1577418542
|
|
NM_001122752.2(SERPINI1):c.203C>A (p.Thr68Asn)
|
rs1577418551
|
|
NM_001122752.2(SERPINI1):c.217C>G (p.Arg73Gly)
|
rs369596299
|
|
NM_001122752.2(SERPINI1):c.220C>G (p.His74Asp)
|
rs1445299347
|
|
NM_001122752.2(SERPINI1):c.228G>A (p.Met76Ile)
|
|
|
NM_001122752.2(SERPINI1):c.236A>G (p.Asp79Gly)
|
|
|
NM_001122752.2(SERPINI1):c.240C>G (p.Ser80Arg)
|
rs2108556439
|
|
NM_001122752.2(SERPINI1):c.251-1G>C
|
|
|
NM_001122752.2(SERPINI1):c.260T>C (p.Phe87Ser)
|
|
|
NM_001122752.2(SERPINI1):c.287T>C (p.Met96Thr)
|
|
|
NM_001122752.2(SERPINI1):c.293C>T (p.Thr98Ile)
|
|
|
NM_001122752.2(SERPINI1):c.311A>T (p.Tyr104Phe)
|
rs1727464670
|
|
NM_001122752.2(SERPINI1):c.313G>A (p.Val105Met)
|
|
|
NM_001122752.2(SERPINI1):c.316A>G (p.Met106Val)
|
rs1727465258
|
|
NM_001122752.2(SERPINI1):c.31G>A (p.Val11Ile)
|
rs2108556179
|
|
NM_001122752.2(SERPINI1):c.32T>C (p.Val11Ala)
|
|
|
NM_001122752.2(SERPINI1):c.336G>C (p.Leu112Phe)
|
rs2108557115
|
|
NM_001122752.2(SERPINI1):c.340G>T (p.Val114Leu)
|
rs61735308
|
|
NM_001122752.2(SERPINI1):c.350G>A (p.Gly117Glu)
|
rs1727467568
|
|
NM_001122752.2(SERPINI1):c.352T>C (p.Phe118Leu)
|
|
|
NM_001122752.2(SERPINI1):c.364G>A (p.Glu122Lys)
|
|
|
NM_001122752.2(SERPINI1):c.381G>A (p.Met127Ile)
|
|
|
NM_001122752.2(SERPINI1):c.38A>G (p.Gln13Arg)
|
|
|
NM_001122752.2(SERPINI1):c.41G>A (p.Ser14Asn)
|
|
|
NM_001122752.2(SERPINI1):c.425_428del (p.Ser142fs)
|
|
|
NM_001122752.2(SERPINI1):c.427C>T (p.Gln143Ter)
|
|
|
NM_001122752.2(SERPINI1):c.43A>G (p.Met15Val)
|
rs1727411590
|
|
NM_001122752.2(SERPINI1):c.446A>C (p.Asn149Thr)
|
|
|
NM_001122752.2(SERPINI1):c.449A>T (p.Tyr150Phe)
|
rs567043099
|
|
NM_001122752.2(SERPINI1):c.456T>G (p.Asn152Lys)
|
rs759200368
|
|
NM_001122752.2(SERPINI1):c.462G>A (p.Trp154Ter)
|
rs1727473660
|
|
NM_001122752.2(SERPINI1):c.467A>T (p.Glu156Val)
|
rs2108557247
|
|
NM_001122752.2(SERPINI1):c.474C>A (p.Asn158Lys)
|
|
|
NM_001122752.2(SERPINI1):c.47C>T (p.Ala16Val)
|
rs1329426448
|
|
NM_001122752.2(SERPINI1):c.482A>T (p.Asn161Ile)
|
rs1553774731
|
|
NM_001122752.2(SERPINI1):c.487G>A (p.Val163Met)
|
|
|
NM_001122752.2(SERPINI1):c.493G>A (p.Asp165Asn)
|
rs1453020878
|
|
NM_001122752.2(SERPINI1):c.4G>T (p.Ala2Ser)
|
rs1727409437
|
|
NM_001122752.2(SERPINI1):c.502T>A (p.Ser168Thr)
|
|
|
NM_001122752.2(SERPINI1):c.521C>T (p.Ala174Val)
|
rs1307589619
|
|
NM_001122752.2(SERPINI1):c.530A>C (p.Tyr177Ser)
|
|
|
NM_001122752.2(SERPINI1):c.53G>C (p.Gly18Ala)
|
rs577994777
|
|
NM_001122752.2(SERPINI1):c.543T>G (p.Ile181Met)
|
|
|
NM_001122752.2(SERPINI1):c.547G>A (p.Ala183Thr)
|
|
|
NM_001122752.2(SERPINI1):c.554A>G (p.Tyr185Cys)
|
|
|
NM_001122752.2(SERPINI1):c.55G>A (p.Ala19Thr)
|
rs1344969234
|
|
NM_001122752.2(SERPINI1):c.566A>G (p.Asn189Ser)
|
rs566381455
|
|
NM_001122752.2(SERPINI1):c.56C>T (p.Ala19Val)
|
|
|
NM_001122752.2(SERPINI1):c.586C>T (p.Pro196Ser)
|
rs1443427135
|
|
NM_001122752.2(SERPINI1):c.58A>G (p.Thr20Ala)
|
|
|
NM_001122752.2(SERPINI1):c.5C>T (p.Ala2Val)
|
|
|
NM_001122752.2(SERPINI1):c.602C>G (p.Thr201Ser)
|
rs778816229
|
|
NM_001122752.2(SERPINI1):c.629G>A (p.Ser210Asn)
|
|
|
NM_001122752.2(SERPINI1):c.629G>T (p.Ser210Ile)
|
rs1296179457
|
|
NM_001122752.2(SERPINI1):c.62_66dup (p.Glu23fs)
|
rs1727413504
|
|
NM_001122752.2(SERPINI1):c.646A>G (p.Met216Val)
|
|
|
NM_001122752.2(SERPINI1):c.648G>A (p.Met216Ile)
|
|
|
NM_001122752.2(SERPINI1):c.664G>A (p.Glu222Lys)
|
|
|
NM_001122752.2(SERPINI1):c.674A>G (p.Tyr225Cys)
|
rs1727575153
|
|
NM_001122752.2(SERPINI1):c.69G>C (p.Glu23Asp)
|
|
|
NM_001122752.2(SERPINI1):c.700G>C (p.Glu234Gln)
|
|
|
NM_001122752.2(SERPINI1):c.731T>C (p.Ile244Thr)
|
rs2108559866
|
|
NM_001122752.2(SERPINI1):c.748G>A (p.Glu250Lys)
|
|
|
NM_001122752.2(SERPINI1):c.74C>T (p.Ala25Val)
|
|
|
NM_001122752.2(SERPINI1):c.751A>G (p.Ile251Val)
|
rs1553774954
|
|
NM_001122752.2(SERPINI1):c.754A>G (p.Ser252Gly)
|
|
|
NM_001122752.2(SERPINI1):c.760A>C (p.Met254Leu)
|
rs1553774956
|
|
NM_001122752.2(SERPINI1):c.770T>C (p.Leu257Pro)
|
rs1466251791
|
|
NM_001122752.2(SERPINI1):c.787C>T (p.Pro263Ser)
|
rs2108559919
|
|
NM_001122752.2(SERPINI1):c.788C>T (p.Pro263Leu)
|
|
|
NM_001122752.2(SERPINI1):c.799C>G (p.Leu267Val)
|
|
|
NM_001122752.2(SERPINI1):c.809_835dup (p.Glu278_Trp279insLeuValLysAlaGlnLeuValGluGlu)
|
|
|
NM_001122752.2(SERPINI1):c.818C>T (p.Ala273Val)
|
rs2108559943
|
|
NM_001122752.2(SERPINI1):c.829G>A (p.Glu277Lys)
|
rs2108559953
|
|
NM_001122752.2(SERPINI1):c.838G>T (p.Ala280Ser)
|
|
|
NM_001122752.2(SERPINI1):c.843C>G (p.Asn281Lys)
|
rs1553774967
|
|
NM_001122752.2(SERPINI1):c.844T>G (p.Ser282Ala)
|
|
|
NM_001122752.2(SERPINI1):c.853A>C (p.Lys285Gln)
|
|
|
NM_001122752.2(SERPINI1):c.854A>G (p.Lys285Arg)
|
rs772141992
|
|
NM_001122752.2(SERPINI1):c.860A>T (p.Lys287Ile)
|
|
|
NM_001122752.2(SERPINI1):c.863T>C (p.Val288Ala)
|
|
|
NM_001122752.2(SERPINI1):c.867A>G (p.Glu289=)
|
|
|
NM_001122752.2(SERPINI1):c.874C>A (p.Leu292Met)
|
|
|
NM_001122752.2(SERPINI1):c.882-3C>T
|
|
|
NM_001122752.2(SERPINI1):c.892G>A (p.Glu298Lys)
|
rs2108567236
|
|
NM_001122752.2(SERPINI1):c.892G>C (p.Glu298Gln)
|
|
|
NM_001122752.2(SERPINI1):c.898G>A (p.Glu300Lys)
|
rs1711680491
|
|
NM_001122752.2(SERPINI1):c.904G>A (p.Asp302Asn)
|
rs2108567247
|
|
NM_001122752.2(SERPINI1):c.910A>G (p.Lys304Glu)
|
|
|
NM_001122752.2(SERPINI1):c.914A>C (p.Asp305Ala)
|
rs756818970
|
|
NM_001122752.2(SERPINI1):c.929T>G (p.Leu310Arg)
|
|
|
NM_001122752.2(SERPINI1):c.949A>G (p.Ile317Val)
|
|
|
NM_001122752.2(SERPINI1):c.963T>A (p.Asn321Lys)
|
rs1711682663
|
|
NM_001122752.2(SERPINI1):c.971G>T (p.Gly324Val)
|
|
|
NM_001122752.2(SERPINI1):c.974T>G (p.Leu325Arg)
|
|
|
NM_001122752.2(SERPINI1):c.976_977delinsCT (p.Ser326Leu)
|
rs2108567301
|
|
NM_001122752.2(SERPINI1):c.979+4A>C
|
|
|
NM_001122752.2(SERPINI1):c.982A>C (p.Asn328His)
|
|
|
NM_001122752.2(SERPINI1):c.982A>G (p.Asn328Asp)
|
|
|
NM_001134407.3(GRIN2A):c.1008-3T>C
|
|
|
NM_001134407.3(GRIN2A):c.1012A>G (p.Met338Val)
|
rs1453013171
|
|
NM_001134407.3(GRIN2A):c.1025C>A (p.Thr342Lys)
|
|
|
NM_001134407.3(GRIN2A):c.1028G>T (p.Trp343Leu)
|
rs1231057100
|
|
NM_001134407.3(GRIN2A):c.1061G>A (p.Gly354Asp)
|
|
|
NM_001134407.3(GRIN2A):c.1069G>T (p.Val357Leu)
|
rs78929970
|
|
NM_001134407.3(GRIN2A):c.106A>G (p.Ile36Val)
|
|
|
NM_001134407.3(GRIN2A):c.1079G>C (p.Arg360Thr)
|
|
|
NM_001134407.3(GRIN2A):c.1087G>A (p.Val363Met)
|
|
|
NM_001134407.3(GRIN2A):c.1088T>G (p.Val363Gly)
|
|
|
NM_001134407.3(GRIN2A):c.1108C>T (p.Arg370Trp)
|
|
|
NM_001134407.3(GRIN2A):c.1109G>A (p.Arg370Gln)
|
rs2043683703
|
|
NM_001134407.3(GRIN2A):c.1128C>T (p.Gly376=)
|
rs2042854084
|
|
NM_001134407.3(GRIN2A):c.1145C>T (p.Thr382Met)
|
|
|
NM_001134407.3(GRIN2A):c.1152C>G (p.Ser384Arg)
|
|
|
NM_001134407.3(GRIN2A):c.115A>T (p.Met39Leu)
|
rs2142390680
|
|
NM_001134407.3(GRIN2A):c.1170G>T (p.Trp390Cys)
|
rs1555496181
|
|
NM_001134407.3(GRIN2A):c.11T>C (p.Val4Ala)
|
rs1596587600
|
|
NM_001134407.3(GRIN2A):c.1206T>G (p.Asp402Glu)
|
rs2042851567
|
|
NM_001134407.3(GRIN2A):c.1213C>T (p.His405Tyr)
|
|
|
NM_001134407.3(GRIN2A):c.1222A>T (p.Ile408Phe)
|
|
|
NM_001134407.3(GRIN2A):c.1264_1308delinsGTCAAAGTTCCGTGGAAA (p.Ile422_Cys436delinsValLysValProTrpLys)
|
rs1596494678
|
|
NM_001134407.3(GRIN2A):c.1265T>G (p.Ile422Arg)
|
|
|
NM_001134407.3(GRIN2A):c.1279G>A (p.Glu427Lys)
|
|
|
NM_001134407.3(GRIN2A):c.1281G>C (p.Glu427Asp)
|
|
|
NM_001134407.3(GRIN2A):c.1293G>C (p.Arg431Ser)
|
rs771768582
|
|
NM_001134407.3(GRIN2A):c.1300G>A (p.Val434Met)
|
rs2141369176
|
|
NM_001134407.3(GRIN2A):c.1310G>T (p.Arg437Leu)
|
|
|
NM_001134407.3(GRIN2A):c.1323A>C (p.Lys441Asn)
|
rs903996899
|
|
NM_001134407.3(GRIN2A):c.1326C>G (p.Ile442Met)
|
rs2042847762
|
|
NM_001134407.3(GRIN2A):c.1328+3G>A
|
|
|
NM_001134407.3(GRIN2A):c.1328+3G>C
|
rs2042847551
|
|
NM_001134407.3(GRIN2A):c.1328+5G>A
|
rs1596494606
|
|
NM_001134407.3(GRIN2A):c.1329C>T (p.Asn443=)
|
rs779642527
|
|
NM_001134407.3(GRIN2A):c.1340A>C (p.Asn447Thr)
|
rs367543145
|
|
NM_001134407.3(GRIN2A):c.1364G>C (p.Cys455Ser)
|
|
|
NM_001134407.3(GRIN2A):c.1367G>T (p.Cys456Phe)
|
rs2141345759
|
|
NM_001134407.3(GRIN2A):c.137T>A (p.Val46Glu)
|
rs2050238313
|
|
NM_001134407.3(GRIN2A):c.1382T>C (p.Ile461Thr)
|
rs1567337914
|
|
NM_001134407.3(GRIN2A):c.1409C>G (p.Thr470Ser)
|
rs752320310
|
|
NM_001134407.3(GRIN2A):c.1418T>C (p.Phe473Ser)
|
rs2042667786
|
|
NM_001134407.3(GRIN2A):c.1418T>G (p.Phe473Cys)
|
rs2042667786
|
|
NM_001134407.3(GRIN2A):c.1422T>G (p.Thr474=)
|
rs905817094
|
|
NM_001134407.3(GRIN2A):c.1429C>G (p.Leu477Val)
|
rs1285260219
|
|
NM_001134407.3(GRIN2A):c.1430T>C (p.Leu477Pro)
|
|
|
NM_001134407.3(GRIN2A):c.1432T>C (p.Tyr478His)
|
|
|
NM_001134407.3(GRIN2A):c.1433A>G (p.Tyr478Cys)
|
rs2042667439
|
|
NM_001134407.3(GRIN2A):c.1442C>T (p.Thr481Ile)
|
|
|
NM_001134407.3(GRIN2A):c.1454A>G (p.His485Arg)
|
rs2141345000
|
|
NM_001134407.3(GRIN2A):c.1457G>T (p.Gly486Val)
|
rs2141344962
|
|
NM_001134407.3(GRIN2A):c.1471A>C (p.Asn491His)
|
|
|
NM_001134407.3(GRIN2A):c.1483G>A (p.Gly495Arg)
|
|
|
NM_001134407.3(GRIN2A):c.1489A>T (p.Ile497Phe)
|
rs1596483730
|
|
NM_001134407.3(GRIN2A):c.1497+5G>C
|
rs2042665872
|
|
NM_001134407.3(GRIN2A):c.1497+6T>C
|
|
|
NM_001134407.3(GRIN2A):c.1520T>C (p.Met507Thr)
|
|
|
NM_001134407.3(GRIN2A):c.1528G>T (p.Gly510Cys)
|
|
|
NM_001134407.3(GRIN2A):c.1538C>T (p.Thr513Ile)
|
rs1064796950
|
|
NM_001134407.3(GRIN2A):c.1544A>G (p.Asn515Ser)
|
rs2141343041
|
|
NM_001134407.3(GRIN2A):c.1549G>A (p.Glu517Lys)
|
rs1555494686
|
|
NM_001134407.3(GRIN2A):c.1551A>C (p.Glu517Asp)
|
rs2042659440
|
|
NM_001134407.3(GRIN2A):c.1565T>C (p.Val522Ala)
|
|
|
NM_001134407.3(GRIN2A):c.1579C>A (p.Pro527Thr)
|
|
|
NM_001134407.3(GRIN2A):c.1595G>A (p.Gly532Glu)
|
|
|
NM_001134407.3(GRIN2A):c.1609G>T (p.Val537Phe)
|
|
|
NM_001134407.3(GRIN2A):c.1618A>G (p.Ser540Gly)
|
rs2141342201
|
|
NM_001134407.3(GRIN2A):c.1699A>G (p.Ile567Val)
|
|
|
NM_001134407.3(GRIN2A):c.1715C>T (p.Ala572Val)
|
rs2141325435
|
|
NM_001134407.3(GRIN2A):c.1751A>G (p.Tyr584Cys)
|
rs1596476519
|
|
NM_001134407.3(GRIN2A):c.1777+3A>T
|
rs2141325159
|
|
NM_001134407.3(GRIN2A):c.1777+6G>C
|
rs76549675
|
|
NM_001134407.3(GRIN2A):c.1813A>G (p.Ile605Val)
|
|
|
NM_001134407.3(GRIN2A):c.1880G>A (p.Ser627Asn)
|
|
|
NM_001134407.3(GRIN2A):c.1908C>G (p.Phe636Leu)
|
|
|
NM_001134407.3(GRIN2A):c.190C>T (p.Pro64Ser)
|
rs994256744
|
|
NM_001134407.3(GRIN2A):c.1915G>A (p.Val639Ile)
|
rs2141312498
|
|
NM_001134407.3(GRIN2A):c.191C>G (p.Pro64Arg)
|
|
|
NM_001134407.3(GRIN2A):c.1923C>G (p.Phe641Leu)
|
|
|
NM_001134407.3(GRIN2A):c.1940C>G (p.Ala647Gly)
|
|
|
NM_001134407.3(GRIN2A):c.1948G>T (p.Ala650Ser)
|
rs2042447713
|
|
NM_001134407.3(GRIN2A):c.1970A>C (p.Glu657Ala)
|
rs2042447316
|
|
NM_001134407.3(GRIN2A):c.197A>G (p.Asp66Gly)
|
|
|
NM_001134407.3(GRIN2A):c.1993C>G (p.Leu665Val)
|
|
|
NM_001134407.3(GRIN2A):c.1999G>A (p.Asp667Asn)
|
|
|
NM_001134407.3(GRIN2A):c.199G>A (p.Val67Met)
|
|
|
NM_001134407.3(GRIN2A):c.2008-6C>G
|
rs2042305474
|
|
NM_001134407.3(GRIN2A):c.2014A>G (p.Arg672Gly)
|
rs1555491685
|
|
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln)
|
rs753203288
|
|
NM_001134407.3(GRIN2A):c.2045T>G (p.Phe682Cys)
|
|
|
NM_001134407.3(GRIN2A):c.2048G>A (p.Gly683Glu)
|
|
|
NM_001134407.3(GRIN2A):c.2063G>A (p.Gly688Glu)
|
|
|
NM_001134407.3(GRIN2A):c.2066G>A (p.Ser689Asn)
|
rs932803191
|
|
NM_001134407.3(GRIN2A):c.208G>A (p.Val70Ile)
|
rs764026892
|
|
NM_001134407.3(GRIN2A):c.2090A>G (p.Asn697Ser)
|
|
|
NM_001134407.3(GRIN2A):c.2095C>A (p.Pro699Thr)
|
|
|
NM_001134407.3(GRIN2A):c.2095C>G (p.Pro699Ala)
|
|
|
NM_001134407.3(GRIN2A):c.2102T>G (p.Met701Arg)
|
rs2141294836
|
|
NM_001134407.3(GRIN2A):c.2117C>T (p.Thr706Ile)
|
|
|
NM_001134407.3(GRIN2A):c.2122T>G (p.Phe708Val)
|
|
|
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly)
|
rs1057518070
|
|
NM_001134407.3(GRIN2A):c.2157C>G (p.Ser719Arg)
|
rs1482585408
|
|
NM_001134407.3(GRIN2A):c.2169-3C>T
|
|
|
NM_001134407.3(GRIN2A):c.2174T>C (p.Leu725Pro)
|
rs1903139235
|
|
NM_001134407.3(GRIN2A):c.2177A>T (p.Asp726Val)
|
rs2141231223
|
|
NM_001134407.3(GRIN2A):c.217C>A (p.Leu73Met)
|
rs775422876
|
|
NM_001134407.3(GRIN2A):c.2184C>G (p.Phe728Leu)
|
rs773358718
|
|
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr)
|
rs796052550
|
|
NM_001134407.3(GRIN2A):c.2248A>G (p.Ile750Val)
|
|
|
NM_001134407.3(GRIN2A):c.2251G>A (p.Gly751Arg)
|
|
|
NM_001134407.3(GRIN2A):c.2263A>G (p.Ile755Val)
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|
|
NM_001134407.3(GRIN2A):c.2290G>A (p.Ala764Thr)
|
|
|
NM_001134407.3(GRIN2A):c.2320C>A (p.Gln774Lys)
|
rs1555488093
|
|
NM_001134407.3(GRIN2A):c.2356+2dup
|
|
|
NM_001134407.3(GRIN2A):c.2356G>A (p.Gly786Ser)
|
|
|
NM_001134407.3(GRIN2A):c.2378C>T (p.Thr793Ile)
|
rs893189529
|
|
NM_001134407.3(GRIN2A):c.2386C>A (p.Leu796Ile)
|
|
|
NM_001134407.3(GRIN2A):c.2416G>C (p.Glu806Gln)
|
|
|
NM_001134407.3(GRIN2A):c.2419G>A (p.Val807Met)
|
|
|
NM_001134407.3(GRIN2A):c.2443G>C (p.Asp815His)
|
rs2141150983
|
|
NM_001134407.3(GRIN2A):c.2445C>A (p.Asp815Glu)
|
rs754929310
|
|
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr)
|
rs1555483699
|
|
NM_001134407.3(GRIN2A):c.2458G>A (p.Val820Ile)
|
|
|
NM_001134407.3(GRIN2A):c.2472G>A (p.Leu824=)
|
rs1458581648
|
|
NM_001134407.3(GRIN2A):c.2494C>A (p.Leu832Ile)
|
rs145495027
|
|
NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser)
|
rs1006328489
|
|
NM_001134407.3(GRIN2A):c.2516A>T (p.His839Leu)
|
|
|
NM_001134407.3(GRIN2A):c.2517C>A (p.His839Gln)
|
rs769482103
|
|
NM_001134407.3(GRIN2A):c.2536C>T (p.Arg846Cys)
|
|
|
NM_001134407.3(GRIN2A):c.2537G>T (p.Arg846Leu)
|
|
|
NM_001134407.3(GRIN2A):c.2546T>G (p.Phe849Cys)
|
rs1901086856
|
|
NM_001134407.3(GRIN2A):c.2547C>A (p.Phe849Leu)
|
|
|
NM_001134407.3(GRIN2A):c.2549C>T (p.Thr850Met)
|
rs1060503230
|
|
NM_001134407.3(GRIN2A):c.2567G>A (p.Arg856Gln)
|
|
|
NM_001134407.3(GRIN2A):c.2567G>T (p.Arg856Leu)
|
|
|
NM_001134407.3(GRIN2A):c.2569C>A (p.Pro857Thr)
|
rs1195869916
|
|
NM_001134407.3(GRIN2A):c.2575T>G (p.Leu859Val)
|
rs1596382621
|
|
NM_001134407.3(GRIN2A):c.2595+5G>C
|
rs1064794679
|
|
NM_001134407.3(GRIN2A):c.2596-13T>A
|
|
|
NM_001134407.3(GRIN2A):c.2606G>C (p.Ser869Thr)
|
|
|
NM_001134407.3(GRIN2A):c.2635AAG[2] (p.Lys881del)
|
rs766019656
|
|
NM_001134407.3(GRIN2A):c.2665G>A (p.Gly889Arg)
|
rs1309768715
|
|
NM_001134407.3(GRIN2A):c.268A>G (p.Met90Val)
|
rs2050232660
|
|
NM_001134407.3(GRIN2A):c.269T>A (p.Met90Lys)
|
|
|
NM_001134407.3(GRIN2A):c.2728A>G (p.Met910Val)
|
rs2141137587
|
|
NM_001134407.3(GRIN2A):c.2744T>C (p.Met915Thr)
|
rs1060503231
|
|
NM_001134407.3(GRIN2A):c.2749T>G (p.Ser917Ala)
|
rs1060503232
|
|
NM_001134407.3(GRIN2A):c.2759G>C (p.Arg920Thr)
|
|
|
NM_001134407.3(GRIN2A):c.2769C>G (p.Asp923Glu)
|
|
|
NM_001134407.3(GRIN2A):c.2783G>T (p.Gly928Val)
|
rs2141137106
|
|
NM_001134407.3(GRIN2A):c.2788C>G (p.Leu930Val)
|
|
|
NM_001134407.3(GRIN2A):c.2792T>C (p.Ile931Thr)
|
|
|
NM_001134407.3(GRIN2A):c.2816G>A (p.Gly939Glu)
|
|
|
NM_001134407.3(GRIN2A):c.281G>C (p.Arg94Pro)
|
|
|
NM_001134407.3(GRIN2A):c.2852G>A (p.Gly951Glu)
|
|
|
NM_001134407.3(GRIN2A):c.2884G>A (p.Glu962Lys)
|
|
|
NM_001134407.3(GRIN2A):c.2884G>C (p.Glu962Gln)
|
rs765370528
|
|
NM_001134407.3(GRIN2A):c.2933A>T (p.Tyr978Phe)
|
rs948782419
|
|
NM_001134407.3(GRIN2A):c.2940C>A (p.Phe980Leu)
|
|
|
NM_001134407.3(GRIN2A):c.2959A>G (p.Thr987Ala)
|
rs2141135709
|
|
NM_001134407.3(GRIN2A):c.2962C>G (p.Leu988Val)
|
|
|
NM_001134407.3(GRIN2A):c.2970G>C (p.Glu990Asp)
|
|
|
NM_001134407.3(GRIN2A):c.2975A>G (p.Asn992Ser)
|
|
|
NM_001134407.3(GRIN2A):c.2995_2996insAGGTGT (p.Ala999delinsGluValSer)
|
|
|
NM_001134407.3(GRIN2A):c.2998G>A (p.Val1000Met)
|
rs1596377028
|
|
NM_001134407.3(GRIN2A):c.2998G>C (p.Val1000Leu)
|
|
|
NM_001134407.3(GRIN2A):c.3017C>A (p.Ala1006Glu)
|
rs200526162
|
|
NM_001134407.3(GRIN2A):c.3026G>A (p.Arg1009Lys)
|
rs1900786503
|
|
NM_001134407.3(GRIN2A):c.3064C>G (p.Arg1022Gly)
|
|
|
NM_001134407.3(GRIN2A):c.3073T>A (p.Ser1025Thr)
|
rs1596376846
|
|
NM_001134407.3(GRIN2A):c.3084G>C (p.Gln1028His)
|
rs796052554
|
|
NM_001134407.3(GRIN2A):c.3109G>T (p.Ala1037Ser)
|
|
|
NM_001134407.3(GRIN2A):c.3116C>T (p.Ala1039Val)
|
rs1900778341
|
|
NM_001134407.3(GRIN2A):c.311C>G (p.Thr104Arg)
|
rs1596586938
|
|
NM_001134407.3(GRIN2A):c.3123T>A (p.Asn1041Lys)
|
rs574425467
|
|
NM_001134407.3(GRIN2A):c.3126G>C (p.Arg1042Ser)
|
|
|
NM_001134407.3(GRIN2A):c.3128C>T (p.Thr1043Ile)
|
|
|
NM_001134407.3(GRIN2A):c.3131A>G (p.His1044Arg)
|
|
|
NM_001134407.3(GRIN2A):c.3166A>G (p.Met1056Val)
|
|
|
NM_001134407.3(GRIN2A):c.316C>G (p.Gln106Glu)
|
|
|
NM_001134407.3(GRIN2A):c.3176C>G (p.Ser1059Cys)
|
rs772497745
|
|
NM_001134407.3(GRIN2A):c.3178G>A (p.Asp1060Asn)
|
rs879255358
|
|
NM_001134407.3(GRIN2A):c.3193T>G (p.Ser1065Ala)
|
|
|
NM_001134407.3(GRIN2A):c.3198T>G (p.Asn1066Lys)
|
|
|
NM_001134407.3(GRIN2A):c.320A>C (p.Glu107Ala)
|
rs2142388375
|
|
NM_001134407.3(GRIN2A):c.3215G>A (p.Arg1072Lys)
|
|
|
NM_001134407.3(GRIN2A):c.3216G>T (p.Arg1072Ser)
|
rs767326993
|
|
NM_001134407.3(GRIN2A):c.3220C>G (p.Pro1074Ala)
|
rs1900768310
|
|
NM_001134407.3(GRIN2A):c.3220C>T (p.Pro1074Ser)
|
rs1900768310
|
|
NM_001134407.3(GRIN2A):c.3227A>G (p.Asn1076Ser)
|
|
|
NM_001134407.3(GRIN2A):c.323C>T (p.Ala108Val)
|
|
|
NM_001134407.3(GRIN2A):c.3245C>T (p.Thr1082Ile)
|
|
|
NM_001134407.3(GRIN2A):c.3249G>T (p.Lys1083Asn)
|
|
|
NM_001134407.3(GRIN2A):c.3250G>A (p.Asp1084Asn)
|
|
|
NM_001134407.3(GRIN2A):c.3250G>C (p.Asp1084His)
|
|
|
NM_001134407.3(GRIN2A):c.3254A>G (p.Asn1085Ser)
|
rs1900765657
|
|
NM_001134407.3(GRIN2A):c.3256T>C (p.Phe1086Leu)
|
|
|
NM_001134407.3(GRIN2A):c.325G>A (p.Val109Ile)
|
|
|
NM_001134407.3(GRIN2A):c.3263G>A (p.Arg1088Lys)
|
|
|
NM_001134407.3(GRIN2A):c.3268G>A (p.Val1090Met)
|
rs1320797353
|
|
NM_001134407.3(GRIN2A):c.3269T>C (p.Val1090Ala)
|
rs1596376431
|
|
NM_001134407.3(GRIN2A):c.3271G>A (p.Ala1091Thr)
|
rs2141133924
|
|
NM_001134407.3(GRIN2A):c.3274T>G (p.Ser1092Ala)
|
|
|
NM_001134407.3(GRIN2A):c.3299A>G (p.Glu1100Gly)
|
|
|
NM_001134407.3(GRIN2A):c.3304G>A (p.Glu1102Lys)
|
rs770546037
|
|
NM_001134407.3(GRIN2A):c.3316C>G (p.Leu1106Val)
|
rs2141133580
|
|
NM_001134407.3(GRIN2A):c.3343G>C (p.Asp1115His)
|
rs1006805133
|
|
NM_001134407.3(GRIN2A):c.3349A>T (p.Ile1117Phe)
|
|
|
NM_001134407.3(GRIN2A):c.3359T>G (p.Ile1120Arg)
|
|
|
NM_001134407.3(GRIN2A):c.3375G>C (p.Glu1125Asp)
|
rs1177482891
|
|
NM_001134407.3(GRIN2A):c.3377C>T (p.Pro1126Leu)
|
rs1230714956
|
|
NM_001134407.3(GRIN2A):c.3387C>G (p.His1129Gln)
|
|
|
NM_001134407.3(GRIN2A):c.3390A>C (p.Leu1130Phe)
|
rs2141132738
|
|
NM_001134407.3(GRIN2A):c.3409G>A (p.Glu1137Lys)
|
rs1372666082
|
|
NM_001134407.3(GRIN2A):c.3413A>G (p.Asn1138Ser)
|
rs367543135
|
|
NM_001134407.3(GRIN2A):c.3446A>T (p.Asp1149Val)
|
|
|
NM_001134407.3(GRIN2A):c.3451T>C (p.Tyr1151His)
|
rs1555482433
|
|
NM_001134407.3(GRIN2A):c.3457G>T (p.Asp1153Tyr)
|
rs267604687
|
|
NM_001134407.3(GRIN2A):c.3460C>A (p.Pro1154Thr)
|
rs1900742896
|
|
NM_001134407.3(GRIN2A):c.3464G>T (p.Ser1155Ile)
|
|
|
NM_001134407.3(GRIN2A):c.3465T>G (p.Ser1155Arg)
|
rs2141131963
|
|
NM_001134407.3(GRIN2A):c.3475C>T (p.Arg1159Cys)
|
|
|
NM_001134407.3(GRIN2A):c.347T>A (p.Ile116Asn)
|
rs2142388025
|
|
NM_001134407.3(GRIN2A):c.347T>G (p.Ile116Ser)
|
rs2142388025
|
|
NM_001134407.3(GRIN2A):c.3480G>C (p.Lys1160Asn)
|
rs1900740968
|
|
NM_001134407.3(GRIN2A):c.3482G>C (p.Gly1161Ala)
|
rs1900740837
|
|
NM_001134407.3(GRIN2A):c.3485A>G (p.Asp1162Gly)
|
|
|
NM_001134407.3(GRIN2A):c.3500T>A (p.Met1167Lys)
|
|
|
NM_001134407.3(GRIN2A):c.3504C>G (p.Asn1168Lys)
|
|
|
NM_001134407.3(GRIN2A):c.3506G>A (p.Arg1169Gln)
|
rs761399460
|
|
NM_001134407.3(GRIN2A):c.3515T>C (p.Leu1172Ser)
|
rs1177807348
|
|
NM_001134407.3(GRIN2A):c.3525A>T (p.Glu1175Asp)
|
rs1900735770
|
|
NM_001134407.3(GRIN2A):c.3526G>C (p.Glu1176Gln)
|
|
|
NM_001134407.3(GRIN2A):c.3539A>T (p.Asn1180Ile)
|
rs972229279
|
|
NM_001134407.3(GRIN2A):c.3544G>A (p.Asp1182Asn)
|
rs375160358
|
|
NM_001134407.3(GRIN2A):c.3556C>T (p.Leu1186Phe)
|
rs763440308
|
|
NM_001134407.3(GRIN2A):c.3569A>T (p.His1190Leu)
|
|
|
NM_001134407.3(GRIN2A):c.3571T>C (p.Phe1191Leu)
|
|
|
NM_001134407.3(GRIN2A):c.358A>G (p.Thr120Ala)
|
rs2050229149
|
|
NM_001134407.3(GRIN2A):c.3596C>T (p.Pro1199Leu)
|
|
|
NM_001134407.3(GRIN2A):c.3602G>A (p.Ser1201Asn)
|
|
|
NM_001134407.3(GRIN2A):c.3612C>G (p.Ser1204Arg)
|
|
|
NM_001134407.3(GRIN2A):c.3622C>T (p.Arg1208Trp)
|
|
|
NM_001134407.3(GRIN2A):c.3631_3633del (p.Ser1211del)
|
rs769008155
|
|
NM_001134407.3(GRIN2A):c.3635C>T (p.Thr1212Met)
|
rs1042202486
|
|
NM_001134407.3(GRIN2A):c.3647G>C (p.Ser1216Thr)
|
rs367543134
|
|
NM_001134407.3(GRIN2A):c.3659A>C (p.Asn1220Thr)
|
rs1131691913
|
|
NM_001134407.3(GRIN2A):c.3665C>T (p.Pro1222Leu)
|
|
|
NM_001134407.3(GRIN2A):c.3668C>A (p.Thr1223Asn)
|
rs770966136
|
|
NM_001134407.3(GRIN2A):c.367C>G (p.Pro123Ala)
|
rs2050228811
|
|
NM_001134407.3(GRIN2A):c.368C>T (p.Pro123Leu)
|
rs2050228721
|
|
NM_001134407.3(GRIN2A):c.3698C>A (p.Pro1233His)
|
|
|
NM_001134407.3(GRIN2A):c.3711T>A (p.Asp1237Glu)
|
rs1224957842
|
|
NM_001134407.3(GRIN2A):c.3713C>A (p.Ala1238Asp)
|
|
|
NM_001134407.3(GRIN2A):c.3737A>G (p.Tyr1246Cys)
|
rs779437393
|
|
NM_001134407.3(GRIN2A):c.3785C>T (p.Thr1262Ile)
|
rs587780351
|
|
NM_001134407.3(GRIN2A):c.3796G>T (p.Val1266Phe)
|
rs758615952
|
|
NM_001134407.3(GRIN2A):c.3804G>T (p.Gln1268His)
|
rs1303683757
|
|
NM_001134407.3(GRIN2A):c.3814G>A (p.Ala1272Thr)
|
|
|
NM_001134407.3(GRIN2A):c.3820A>G (p.Asn1274Asp)
|
rs1567275934
|
|
NM_001134407.3(GRIN2A):c.3821A>G (p.Asn1274Ser)
|
|
|
NM_001134407.3(GRIN2A):c.3833A>T (p.Gln1278Leu)
|
|
|
NM_001134407.3(GRIN2A):c.3838C>A (p.Gln1280Lys)
|
|
|
NM_001134407.3(GRIN2A):c.3848A>G (p.Lys1283Arg)
|
rs1900705371
|
|
NM_001134407.3(GRIN2A):c.3872C>A (p.Ser1291Tyr)
|
|
|
NM_001134407.3(GRIN2A):c.3877G>T (p.Asp1293Tyr)
|
rs778230379
|
|
NM_001134407.3(GRIN2A):c.3884T>A (p.Ile1295Asn)
|
|
|
NM_001134407.3(GRIN2A):c.3889G>A (p.Asp1297Asn)
|
rs1431125566
|
|
NM_001134407.3(GRIN2A):c.38C>G (p.Pro13Arg)
|
rs367543131
|
|
NM_001134407.3(GRIN2A):c.3902A>G (p.Glu1301Gly)
|
|
|
NM_001134407.3(GRIN2A):c.3919C>A (p.Pro1307Thr)
|
|
|
NM_001134407.3(GRIN2A):c.3926G>A (p.Arg1309Gln)
|
|
|
NM_001134407.3(GRIN2A):c.3928A>C (p.Ser1310Arg)
|
|
|
NM_001134407.3(GRIN2A):c.3936C>A (p.Ser1312Arg)
|
rs267604685
|
|
NM_001134407.3(GRIN2A):c.3940A>G (p.Lys1314Glu)
|
|
|
NM_001134407.3(GRIN2A):c.3976G>C (p.Gly1326Arg)
|
|
|
NM_001134407.3(GRIN2A):c.4000A>G (p.Ser1334Gly)
|
|
|
NM_001134407.3(GRIN2A):c.4030T>C (p.Phe1344Leu)
|
rs2141127334
|
|
NM_001134407.3(GRIN2A):c.4031T>C (p.Phe1344Ser)
|
|
|
NM_001134407.3(GRIN2A):c.4032C>A (p.Phe1344Leu)
|
|
|
NM_001134407.3(GRIN2A):c.4084A>G (p.Thr1362Ala)
|
rs77282679
|
|
NM_001134407.3(GRIN2A):c.4085C>A (p.Thr1362Asn)
|
|
|
NM_001134407.3(GRIN2A):c.4089C>T (p.Ser1363=)
|
|
|
NM_001134407.3(GRIN2A):c.4117G>C (p.Asp1373His)
|
|
|
NM_001134407.3(GRIN2A):c.4126C>G (p.Arg1376Gly)
|
rs1426934537
|
|
NM_001134407.3(GRIN2A):c.4131G>C (p.Leu1377Phe)
|
|
|
NM_001134407.3(GRIN2A):c.414+5G>A
|
rs2142387204
|
|
NM_001134407.3(GRIN2A):c.4153G>A (p.Asp1385Asn)
|
rs1900682901
|
|
NM_001134407.3(GRIN2A):c.4157C>T (p.Pro1386Leu)
|
rs1277391984
|
|
NM_001134407.3(GRIN2A):c.4165C>T (p.His1389Tyr)
|
rs2141125985
|
|
NM_001134407.3(GRIN2A):c.4167C>G (p.His1389Gln)
|
rs779614780
|
|
NM_001134407.3(GRIN2A):c.4183G>A (p.Ala1395Thr)
|
|
|
NM_001134407.3(GRIN2A):c.418C>A (p.Pro140Thr)
|
rs776317814
|
|
NM_001134407.3(GRIN2A):c.4198T>C (p.Tyr1400His)
|
|
|
NM_001134407.3(GRIN2A):c.4201C>T (p.Leu1401Phe)
|
|
|
NM_001134407.3(GRIN2A):c.4208C>T (p.Ser1403Leu)
|
rs1456715393
|
|
NM_001134407.3(GRIN2A):c.4219T>G (p.Ser1407Ala)
|
|
|
NM_001134407.3(GRIN2A):c.4229C>T (p.Ser1410Leu)
|
|
|
NM_001134407.3(GRIN2A):c.4235G>C (p.Cys1412Ser)
|
rs1900675462
|
|
NM_001134407.3(GRIN2A):c.4247G>C (p.Ser1416Thr)
|
rs377712891
|
|
NM_001134407.3(GRIN2A):c.4249C>T (p.Arg1417Trp)
|
rs369508378
|
|
NM_001134407.3(GRIN2A):c.4262A>T (p.Asp1421Val)
|
|
|
NM_001134407.3(GRIN2A):c.4271T>C (p.Ile1424Thr)
|
|
|
NM_001134407.3(GRIN2A):c.4320_4324del (p.Thr1441fs)
|
rs1900666405
|
|
NM_001134407.3(GRIN2A):c.4325C>G (p.Pro1442Arg)
|
|
|
NM_001134407.3(GRIN2A):c.4328G>A (p.Arg1443Lys)
|
rs2141124724
|
|
NM_001134407.3(GRIN2A):c.4357G>A (p.Val1453Met)
|
rs201707833
|
|
NM_001134407.3(GRIN2A):c.4367A>G (p.Lys1456Arg)
|
|
|
NM_001134407.3(GRIN2A):c.4372C>T (p.Pro1458Ser)
|
|
|
NM_001134407.3(GRIN2A):c.4373C>G (p.Pro1458Arg)
|
rs933017490
|
|
NM_001134407.3(GRIN2A):c.4373C>T (p.Pro1458Leu)
|
|
|
NM_001134407.3(GRIN2A):c.4389T>G (p.Asp1463Glu)
|
rs748047572
|
|
NM_001134407.3(GRIN2A):c.4393del (p.Ter1465LysextTer?)
|
rs2141124456
|
|
NM_001134407.3(GRIN2A):c.454C>G (p.Gln152Glu)
|
rs1555455829
|
|
NM_001134407.3(GRIN2A):c.456G>T (p.Gln152His)
|
|
|
NM_001134407.3(GRIN2A):c.476T>C (p.Leu159Pro)
|
rs1555455805
|
|
NM_001134407.3(GRIN2A):c.483C>G (p.Ile161Met)
|
|
|
NM_001134407.3(GRIN2A):c.499T>C (p.Trp167Arg)
|
|
|
NM_001134407.3(GRIN2A):c.49G>A (p.Val17Ile)
|
rs2050242807
|
|
NM_001134407.3(GRIN2A):c.521C>A (p.Thr174Asn)
|
|
|
NM_001134407.3(GRIN2A):c.550A>G (p.Ile184Val)
|
|
|
NM_001134407.3(GRIN2A):c.55C>T (p.Arg19Cys)
|
rs768469157
|
|
NM_001134407.3(GRIN2A):c.56G>C (p.Arg19Pro)
|
|
|
NM_001134407.3(GRIN2A):c.586G>C (p.Val196Leu)
|
|
|
NM_001134407.3(GRIN2A):c.586G>T (p.Val196Leu)
|
rs901580617
|
|
NM_001134407.3(GRIN2A):c.611T>A (p.Ile204Asn)
|
|
|
NM_001134407.3(GRIN2A):c.613_614insACTGCCTCA (p.Ile204_Thr205insAsnCysLeu)
|
|
|
NM_001134407.3(GRIN2A):c.634G>A (p.Asp212Asn)
|
rs1396813794
|
|
NM_001134407.3(GRIN2A):c.637G>A (p.Ala213Thr)
|
rs2044765102
|
|
NM_001134407.3(GRIN2A):c.63G>A (p.Pro21=)
|
rs1060504865
|
|
NM_001134407.3(GRIN2A):c.664A>G (p.Ile222Val)
|
|
|
NM_001134407.3(GRIN2A):c.665T>C (p.Ile222Thr)
|
|
|
NM_001134407.3(GRIN2A):c.689A>T (p.Tyr230Phe)
|
rs996900968
|
|
NM_001134407.3(GRIN2A):c.68C>A (p.Pro23Gln)
|
rs969233060
|
|
NM_001134407.3(GRIN2A):c.712C>T (p.Leu238Phe)
|
|
|
NM_001134407.3(GRIN2A):c.72C>A (p.Ser24Arg)
|
rs781722466
|
|
NM_001134407.3(GRIN2A):c.730C>G (p.Arg244Gly)
|
|
|
NM_001134407.3(GRIN2A):c.734C>G (p.Ser245Cys)
|
|
|
NM_001134407.3(GRIN2A):c.824G>A (p.Gly275Glu)
|
rs2044759670
|
|
NM_001134407.3(GRIN2A):c.827T>A (p.Leu276His)
|
|
|
NM_001134407.3(GRIN2A):c.827T>C (p.Leu276Pro)
|
rs2044759550
|
|
NM_001134407.3(GRIN2A):c.82_84del (p.Glu28del)
|
rs767188122
|
|
NM_001134407.3(GRIN2A):c.854A>C (p.Asp285Ala)
|
rs1016685456
|
|
NM_001134407.3(GRIN2A):c.859A>G (p.Ser287Gly)
|
rs1555455615
|
|
NM_001134407.3(GRIN2A):c.861C>A (p.Ser287Arg)
|
|
|
NM_001134407.3(GRIN2A):c.883G>C (p.Gly295Arg)
|
rs568484876
|
|
NM_001134407.3(GRIN2A):c.886A>G (p.Ile296Val)
|
rs953400144
|
|
NM_001134407.3(GRIN2A):c.890G>A (p.Gly297Asp)
|
rs775591257
|
|
NM_001134407.3(GRIN2A):c.890G>C (p.Gly297Ala)
|
|
|
NM_001134407.3(GRIN2A):c.89G>A (p.Gly30Asp)
|
rs1567354651
|
|
NM_001134407.3(GRIN2A):c.904G>C (p.Ala302Pro)
|
|
|
NM_001134407.3(GRIN2A):c.904G>T (p.Ala302Ser)
|
rs901717931
|
|
NM_001134407.3(GRIN2A):c.914C>G (p.Ser305Cys)
|
rs1596344343
|
|
NM_001134407.3(GRIN2A):c.92C>T (p.Pro31Leu)
|
rs2050239798
|
|
NM_001134407.3(GRIN2A):c.932C>A (p.Ser311Tyr)
|
|
|
NM_001134407.3(GRIN2A):c.932C>T (p.Ser311Phe)
|
rs754698963
|
|
NM_001134407.3(GRIN2A):c.934T>C (p.Tyr312His)
|
rs2044756352
|
|
NM_001134407.3(GRIN2A):c.934T>G (p.Tyr312Asp)
|
rs2044756352
|
|
NM_001134407.3(GRIN2A):c.937A>C (p.Ile313Leu)
|
rs1465063447
|
|
NM_001134407.3(GRIN2A):c.952G>A (p.Ala318Thr)
|
rs1567186996
|
|
NM_001134407.3(GRIN2A):c.967C>A (p.Gln323Lys)
|
|
|
NM_001134407.3(GRIN2A):c.968A>G (p.Gln323Arg)
|
rs2044755009
|
|
NM_001134407.3(GRIN2A):c.970A>G (p.Met324Val)
|
rs1596344233
|
|
NM_001161352.2(KCNMA1):c.1049T>G (p.Met350Arg)
|
|
|
NM_001161352.2(KCNMA1):c.104G>A (p.Ser35Asn)
|
|
|
NM_001161352.2(KCNMA1):c.1105A>T (p.Met369Leu)
|
rs2153875624
|
|
NM_001161352.2(KCNMA1):c.1112T>G (p.Phe371Cys)
|
|
|
NM_001161352.2(KCNMA1):c.112G>A (p.Ala38Thr)
|
rs767099267
|
|
NM_001161352.2(KCNMA1):c.112G>C (p.Ala38Pro)
|
rs767099267
|
|
NM_001161352.2(KCNMA1):c.112G>T (p.Ala38Ser)
|
|
|
NM_001161352.2(KCNMA1):c.1132G>A (p.Ala378Thr)
|
rs2097249003
|
|
NM_001161352.2(KCNMA1):c.1171A>G (p.Ile391Val)
|
rs1402453017
|
|
NM_001161352.2(KCNMA1):c.117CTC[10] (p.Ser58_Ser60dup)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.117CTC[11] (p.Ser57_Ser60dup)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.117CTC[9] (p.Ser59_Ser60dup)
|
rs572827902
|
|
NM_001161352.2(KCNMA1):c.1181G>A (p.Arg394His)
|
rs1397483743
|
|
NM_001161352.2(KCNMA1):c.1208C>T (p.Ala403Val)
|
|
|
NM_001161352.2(KCNMA1):c.1213A>T (p.Ser405Cys)
|
|
|
NM_001161352.2(KCNMA1):c.1229T>C (p.Ile410Thr)
|
rs2153792409
|
|
NM_001161352.2(KCNMA1):c.12_17dup (p.Gly10_Ser11insGlyGly)
|
|
|
NM_001161352.2(KCNMA1):c.12_20dup (p.Gly10_Ser11insGlyGlyGly)
|
|
|
NM_001161352.2(KCNMA1):c.1315G>A (p.Glu439Lys)
|
|
|
NM_001161352.2(KCNMA1):c.132_143dup (p.Ser60_Val61insSerSerSerSer)
|
|
|
NM_001161352.2(KCNMA1):c.1334+3A>G
|
rs2153792200
|
|
NM_001161352.2(KCNMA1):c.1335C>T (p.Asn445=)
|
|
|
NM_001161352.2(KCNMA1):c.1336A>G (p.Ile446Val)
|
rs2096695305
|
|
NM_001161352.2(KCNMA1):c.1339T>C (p.Ser447Pro)
|
|
|
NM_001161352.2(KCNMA1):c.1343C>G (p.Pro448Arg)
|
|
|
NM_001161352.2(KCNMA1):c.135CTCTTC[3] (p.Ser60_Val61insSerSer)
|
|
|
NM_001161352.2(KCNMA1):c.138_161del (p.Ser53_Ser60del)
|
rs794726903
|
|
NM_001161352.2(KCNMA1):c.13GGC[2] (p.Gly7_Gly10del)
|
rs750804948
|
|
NM_001161352.2(KCNMA1):c.13GGC[3] (p.Gly8_Gly10del)
|
rs750804948
|
|
NM_001161352.2(KCNMA1):c.13GGC[4] (p.Gly9_Gly10del)
|
rs750804948
|
|
NM_001161352.2(KCNMA1):c.13GGC[5] (p.Gly10del)
|
rs750804948
|
|
NM_001161352.2(KCNMA1):c.13GGC[7] (p.Gly10dup)
|
rs750804948
|
|
NM_001161352.2(KCNMA1):c.13GGC[8] (p.Gly9_Gly10dup)
|
rs750804948
|
|
NM_001161352.2(KCNMA1):c.13GGC[9] (p.Gly10_Ser11insGlyGlyGly)
|
|
|
NM_001161352.2(KCNMA1):c.1408G>A (p.Val470Ile)
|
|
|
NM_001161352.2(KCNMA1):c.1441-7G>T
|
|
|
NM_001161352.2(KCNMA1):c.144TTC[1] (p.Ser58_Ser60del)
|
rs751901610
|
|
NM_001161352.2(KCNMA1):c.144TTC[6] (p.Ser59_Ser60dup)
|
rs751901610
|
|
NM_001161352.2(KCNMA1):c.144_170dup (p.Ser60_Val61insSerSerSerSerSerSerSerSerSer)
|
|
|
NM_001161352.2(KCNMA1):c.147_167dup (p.Ser60_Val61insSerSerSerSerSerSerSer)
|
|
|
NM_001161352.2(KCNMA1):c.1491C>G (p.Asp497Glu)
|
rs1381424078
|
|
NM_001161352.2(KCNMA1):c.1493C>T (p.Pro498Leu)
|
rs2096653786
|
|
NM_001161352.2(KCNMA1):c.14_15insAGG (p.Gly10dup)
|
rs2093907468
|
|
NM_001161352.2(KCNMA1):c.1515T>A (p.Asn505Lys)
|
|
|
NM_001161352.2(KCNMA1):c.1550C>T (p.Pro517Leu)
|
|
|
NM_001161352.2(KCNMA1):c.155C>T (p.Ser52Phe)
|
rs1483499989
|
|
NM_001161352.2(KCNMA1):c.156CTC[4] (p.Ser60_Val61insSer)
|
|
|
NM_001161352.2(KCNMA1):c.1585C>T (p.His529Tyr)
|
|
|
NM_001161352.2(KCNMA1):c.1586A>G (p.His529Arg)
|
|
|
NM_001161352.2(KCNMA1):c.1594G>A (p.Ala532Thr)
|
|
|
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly5_Gly6insSer)
|
rs780558929
|
|
NM_001161352.2(KCNMA1):c.1609A>C (p.Ile537Leu)
|
|
|
NM_001161352.2(KCNMA1):c.1612C>G (p.Pro538Ala)
|
|
|
NM_001161352.2(KCNMA1):c.161C>T (p.Ser54Phe)
|
|
|
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del)
|
rs754606765
|
|
NM_001161352.2(KCNMA1):c.1642G>A (p.Ala548Thr)
|
rs974940310
|
|
NM_001161352.2(KCNMA1):c.168_179del (p.Ser57_Ser60del)
|
rs1015011962
|
|
NM_001161352.2(KCNMA1):c.16_33del (p.Gly6_Ser11del)
|
rs1491384967
|
|
NM_001161352.2(KCNMA1):c.16_33dup (p.Gly6_Ser11dup)
|
rs1491384967
|
|
NM_001161352.2(KCNMA1):c.1712T>C (p.Met571Thr)
|
rs2153710128
|
|
NM_001161352.2(KCNMA1):c.1713G>A (p.Met571Ile)
|
|
|
NM_001161352.2(KCNMA1):c.1716T>A (p.Leu572=)
|
rs1352985094
|
|
NM_001161352.2(KCNMA1):c.1744A>G (p.Ile582Val)
|
|
|
NM_001161352.2(KCNMA1):c.1750-3T>C
|
rs369035808
|
|
NM_001161352.2(KCNMA1):c.1752T>A (p.Ile584=)
|
|
|
NM_001161352.2(KCNMA1):c.175T>C (p.Ser59Pro)
|
rs2093880726
|
|
NM_001161352.2(KCNMA1):c.176C>T (p.Ser59Phe)
|
|
|
NM_001161352.2(KCNMA1):c.1792T>G (p.Ser598Ala)
|
rs2094532158
|
|
NM_001161352.2(KCNMA1):c.1795A>G (p.Asn599Asp)
|
|
|
NM_001161352.2(KCNMA1):c.179C>G (p.Ser60Trp)
|
rs768769748
|
|
NM_001161352.2(KCNMA1):c.179C>T (p.Ser60Leu)
|
rs768769748
|
|
NM_001161352.2(KCNMA1):c.1831G>C (p.Val611Leu)
|
rs200668674
|
|
NM_001161352.2(KCNMA1):c.1847C>G (p.Pro616Arg)
|
rs2094530696
|
|
NM_001161352.2(KCNMA1):c.1850C>T (p.Thr617Ile)
|
rs1440636763
|
|
NM_001161352.2(KCNMA1):c.1860-3C>T
|
|
|
NM_001161352.2(KCNMA1):c.1860G>C (p.Glu620Asp)
|
|
|
NM_001161352.2(KCNMA1):c.186C>G (p.His62Gln)
|
|
|
NM_001161352.2(KCNMA1):c.1870G>T (p.Val624Leu)
|
rs2153527454
|
|
NM_001161352.2(KCNMA1):c.1880A>G (p.Lys627Arg)
|
rs1555142864
|
|
NM_001161352.2(KCNMA1):c.1897A>G (p.Ile633Val)
|
|
|
NM_001161352.2(KCNMA1):c.1904A>G (p.Tyr635Cys)
|
|
|
NM_001161352.2(KCNMA1):c.1909T>G (p.Ser637Ala)
|
rs1409251473
|
|
NM_001161352.2(KCNMA1):c.1925G>A (p.Ser642Asn)
|
|
|
NM_001161352.2(KCNMA1):c.1928G>T (p.Arg643Leu)
|
rs2093602876
|
|
NM_001161352.2(KCNMA1):c.1929-6G>A
|
rs2092525713
|
|
NM_001161352.2(KCNMA1):c.1929T>C (p.Arg643=)
|
rs1064797145
|
|
NM_001161352.2(KCNMA1):c.1936A>G (p.Ile646Val)
|
rs2092524960
|
|
NM_001161352.2(KCNMA1):c.1952A>C (p.His651Pro)
|
rs200013065
|
|
NM_001161352.2(KCNMA1):c.1952A>T (p.His651Leu)
|
rs200013065
|
|
NM_001161352.2(KCNMA1):c.1964A>T (p.Gln655Leu)
|
rs2092523707
|
|
NM_001161352.2(KCNMA1):c.1989C>G (p.Ile663Met)
|
|
|
NM_001161352.2(KCNMA1):c.19_33dup (p.Ser11_Ser12insGlyGlyGlyGlySer)
|
|
|
NM_001161352.2(KCNMA1):c.1A>G (p.Met1Val)
|
|
|
NM_001161352.2(KCNMA1):c.2053A>G (p.Thr685Ala)
|
rs1449813631
|
|
NM_001161352.2(KCNMA1):c.2053A>T (p.Thr685Ser)
|
|
|
NM_001161352.2(KCNMA1):c.2057A>T (p.Asp686Val)
|
rs2153454278
|
|
NM_001161352.2(KCNMA1):c.2067A>C (p.Arg689Ser)
|
rs2153454235
|
|
NM_001161352.2(KCNMA1):c.2078G>A (p.Cys693Tyr)
|
rs2090878635
|
|
NM_001161352.2(KCNMA1):c.211A>G (p.Ile71Val)
|
|
|
NM_001161352.2(KCNMA1):c.215C>G (p.Pro72Arg)
|
rs2093876319
|
|
NM_001161352.2(KCNMA1):c.225G>A (p.Met75Ile)
|
rs1464796627
|
|
NM_001161352.2(KCNMA1):c.2291T>C (p.Leu764Pro)
|
rs781228418
|
|
NM_001161352.2(KCNMA1):c.2302A>G (p.Lys768Glu)
|
|
|
NM_001161352.2(KCNMA1):c.2316T>A (p.Asn772Lys)
|
|
|
NM_001161352.2(KCNMA1):c.2323A>C (p.Met775Leu)
|
|
|
NM_001161352.2(KCNMA1):c.2327G>A (p.Arg776Gln)
|
rs200676185
|
|
NM_001161352.2(KCNMA1):c.2332T>A (p.Ser778Thr)
|
|
|
NM_001161352.2(KCNMA1):c.2339A>G (p.Asn780Ser)
|
|
|
NM_001161352.2(KCNMA1):c.233C>T (p.Pro78Leu)
|
|
|
NM_001161352.2(KCNMA1):c.2342C>A (p.Thr781Asn)
|
rs976855600
|
|
NM_001161352.2(KCNMA1):c.2353C>G (p.Leu785Val)
|
|
|
NM_001161352.2(KCNMA1):c.2383G>C (p.Gly795Arg)
|
|
|
NM_001161352.2(KCNMA1):c.2387A>T (p.Asn796Ile)
|
rs2152988834
|
|
NM_001161352.2(KCNMA1):c.2396T>C (p.Ile799Thr)
|
|
|
NM_001161352.2(KCNMA1):c.2400C>G (p.Asp800Glu)
|
rs2152988719
|
|
NM_001161352.2(KCNMA1):c.2408A>G (p.Asp803Gly)
|
|
|
NM_001161352.2(KCNMA1):c.2411C>T (p.Ser804Phe)
|
rs2152988601
|
|
NM_001161352.2(KCNMA1):c.2423A>C (p.Lys808Thr)
|
|
|
NM_001161352.2(KCNMA1):c.2423A>G (p.Lys808Arg)
|
rs780661063
|
|
NM_001161352.2(KCNMA1):c.2475A>T (p.Lys825Asn)
|
|
|
NM_001161352.2(KCNMA1):c.2480T>C (p.Ile827Thr)
|
|
|
NM_001161352.2(KCNMA1):c.2485A>G (p.Thr829Ala)
|
|
|
NM_001161352.2(KCNMA1):c.2503A>G (p.Met835Val)
|
rs2065356454
|
|
NM_001161352.2(KCNMA1):c.2509G>A (p.Val837Ile)
|
|
|
NM_001161352.2(KCNMA1):c.2536A>G (p.Ile846Val)
|
|
|
NM_001161352.2(KCNMA1):c.253C>A (p.Arg85Ser)
|
rs2154572127
|
|
NM_001161352.2(KCNMA1):c.2545G>A (p.Asp849Asn)
|
|
|
NM_001161352.2(KCNMA1):c.2547C>A (p.Asp849Glu)
|
rs147369374
|
|
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp)
|
rs199681253
|
|
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys)
|
rs1591664697
|
|
NM_001161352.2(KCNMA1):c.2629A>G (p.Ile877Val)
|
|
|
NM_001161352.2(KCNMA1):c.2656C>T (p.Leu886Phe)
|
rs2152943139
|
|
NM_001161352.2(KCNMA1):c.2681A>G (p.His894Arg)
|
rs2065325262
|
|
NM_001161352.2(KCNMA1):c.2681A>T (p.His894Leu)
|
|
|
NM_001161352.2(KCNMA1):c.2689C>T (p.Pro897Ser)
|
|
|
NM_001161352.2(KCNMA1):c.2701A>C (p.Ile901Leu)
|
rs762661695
|
|
NM_001161352.2(KCNMA1):c.2709T>C (p.Pro903=)
|
|
|
NM_001161352.2(KCNMA1):c.2710-3A>T
|
rs1214940006
|
|
NM_001161352.2(KCNMA1):c.2710-8_2710-7inv
|
|
|
NM_001161352.2(KCNMA1):c.2710G>A (p.Gly904Ser)
|
rs2063511193
|
|
NM_001161352.2(KCNMA1):c.2714C>G (p.Thr905Arg)
|
rs201192736
|
|
NM_001161352.2(KCNMA1):c.2783C>T (p.Ala928Val)
|
rs2152885647
|
|
NM_001161352.2(KCNMA1):c.2786A>G (p.Asn929Ser)
|
|
|
NM_001161352.2(KCNMA1):c.2789A>C (p.Gln930Pro)
|
rs2152885532
|
|
NM_001161352.2(KCNMA1):c.278C>T (p.Ser93Phe)
|
|
|
NM_001161352.2(KCNMA1):c.2791A>G (p.Asn931Asp)
|
|
|
NM_001161352.2(KCNMA1):c.2795A>G (p.Asn932Ser)
|
|
|
NM_001161352.2(KCNMA1):c.2798T>C (p.Ile933Thr)
|
|
|
NM_001161352.2(KCNMA1):c.27_56del (p.Gly13_Ser22del)
|
rs1163075445
|
|
NM_001161352.2(KCNMA1):c.27_56dup (p.Ser22_Leu23insGlyGlyGlyGlyGlyGlyGlyGlySerSer)
|
|
|
NM_001161352.2(KCNMA1):c.283A>G (p.Met95Val)
|
rs762347754
|
|
NM_001161352.2(KCNMA1):c.2873G>T (p.Ser958Ile)
|
rs2152884880
|
|
NM_001161352.2(KCNMA1):c.2881G>A (p.Val961Ile)
|
|
|
NM_001161352.2(KCNMA1):c.28G>A (p.Gly10Ser)
|
|
|
NM_001161352.2(KCNMA1):c.2926A>G (p.Arg976Gly)
|
|
|
NM_001161352.2(KCNMA1):c.2933C>T (p.Ser978Phe)
|
|
|
NM_001161352.2(KCNMA1):c.2948C>G (p.Pro983Arg)
|
|
|
NM_001161352.2(KCNMA1):c.2951T>C (p.Val984Ala)
|
|
|
NM_001161352.2(KCNMA1):c.2956G>A (p.Gly986Arg)
|
|
|
NM_001161352.2(KCNMA1):c.2956G>C (p.Gly986Arg)
|
rs763598041
|
|
NM_001161352.2(KCNMA1):c.2977A>G (p.Ile993Val)
|
|
|
NM_001161352.2(KCNMA1):c.298_309del (p.Gly100_Phe103del)
|
rs2093871879
|
|
NM_001161352.2(KCNMA1):c.3016+16_3016+17inv
|
|
|
NM_001161352.2(KCNMA1):c.3016+6G>A
|
rs760003715
|
|
NM_001161352.2(KCNMA1):c.3017T>C (p.Val1006Ala)
|
|
|
NM_001161352.2(KCNMA1):c.3035A>G (p.Gln1012Arg)
|
rs2049487457
|
|
NM_001161352.2(KCNMA1):c.3054TGA[4] (p.Asp1021_Pro1022insAsp)
|
|
|
NM_001161352.2(KCNMA1):c.3086C>T (p.Thr1029Met)
|
|
|
NM_001161352.2(KCNMA1):c.30C>T (p.Gly10=)
|
rs2093904313
|
|
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del)
|
rs1163075445
|
|
NM_001161352.2(KCNMA1):c.30_56dup (p.Ser11_Gly19dup)
|
rs1163075445
|
|
NM_001161352.2(KCNMA1):c.3136C>T (p.Leu1046Phe)
|
|
|
NM_001161352.2(KCNMA1):c.3139A>G (p.Met1047Val)
|
|
|
NM_001161352.2(KCNMA1):c.3141G>A (p.Met1047Ile)
|
|
|
NM_001161352.2(KCNMA1):c.3146C>T (p.Ala1049Val)
|
rs2152363692
|
|
NM_001161352.2(KCNMA1):c.3149C>T (p.Thr1050Met)
|
rs915080941
|
|
NM_001161352.2(KCNMA1):c.3168C>G (p.Ile1056Met)
|
|
|
NM_001161352.2(KCNMA1):c.3181C>T (p.Arg1061Trp)
|
|
|
NM_001161352.2(KCNMA1):c.3182G>A (p.Arg1061Gln)
|
rs764468883
|
|
NM_001161352.2(KCNMA1):c.31AGC[1] (p.Ser12del)
|
rs757636988
|
|
NM_001161352.2(KCNMA1):c.31AGC[3] (p.Ser12dup)
|
rs757636988
|
|
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly)
|
rs1555528807
|
|
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del)
|
rs752334052
|
|
NM_001161352.2(KCNMA1):c.31_45dup (p.Gly15_Gly16insSerSerGlyGlyGly)
|
|
|
NM_001161352.2(KCNMA1):c.31_48del (p.Ser11_Gly16del)
|
rs759136661
|
|
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup)
|
rs759136661
|
|
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del)
|
rs1484259264
|
|
NM_001161352.2(KCNMA1):c.31_51dup (p.Ser11_Gly17dup)
|
rs1484259264
|
|
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del)
|
rs587780364
|
|
NM_001161352.2(KCNMA1):c.31_57del (p.Ser11_Gly19del)
|
|
|
NM_001161352.2(KCNMA1):c.320T>A (p.Leu107His)
|
|
|
NM_001161352.2(KCNMA1):c.3241G>A (p.Ala1081Thr)
|
|
|
NM_001161352.2(KCNMA1):c.3259A>G (p.Ser1087Gly)
|
|
|
NM_001161352.2(KCNMA1):c.3263C>T (p.Thr1088Ile)
|
rs769712220
|
|
NM_001161352.2(KCNMA1):c.3266C>T (p.Pro1089Leu)
|
rs1208962527
|
|
NM_001161352.2(KCNMA1):c.3285G>C (p.Arg1095Ser)
|
|
|
NM_001161352.2(KCNMA1):c.3286G>A (p.Asp1096Asn)
|
|
|
NM_001161352.2(KCNMA1):c.3289C>T (p.Arg1097Cys)
|
rs2151872034
|
|
NM_001161352.2(KCNMA1):c.3290G>A (p.Arg1097His)
|
|
|
NM_001161352.2(KCNMA1):c.3302C>T (p.Ala1101Val)
|
|
|
NM_001161352.2(KCNMA1):c.3316C>T (p.Leu1106Phe)
|
rs2151871204
|
|
NM_001161352.2(KCNMA1):c.334A>G (p.Lys112Glu)
|
|
|
NM_001161352.2(KCNMA1):c.336G>C (p.Lys112Asn)
|
rs748112495
|
|
NM_001161352.2(KCNMA1):c.3388T>G (p.Tyr1130Asp)
|
|
|
NM_001161352.2(KCNMA1):c.3440C>A (p.Thr1147Asn)
|
|
|
NM_001161352.2(KCNMA1):c.3440C>T (p.Thr1147Ile)
|
rs1253143924
|
|
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
|
|
|
NM_001161352.2(KCNMA1):c.3457A>C (p.Lys1153Gln)
|
rs2151796883
|
|
NM_001161352.2(KCNMA1):c.3467T>C (p.Val1156Ala)
|
|
|
NM_001161352.2(KCNMA1):c.3485A>G (p.Tyr1162Cys)
|
rs2037618919
|
|
NM_001161352.2(KCNMA1):c.349G>A (p.Val117Met)
|
rs1257184004
|
|
NM_001161352.2(KCNMA1):c.349G>C (p.Val117Leu)
|
|
|
NM_001161352.2(KCNMA1):c.34_39del (p.Ser12_Gly13del)
|
rs2093901062
|
|
NM_001161352.2(KCNMA1):c.34_39dup (p.Ser12_Gly13dup)
|
rs2093901062
|
|
NM_001161352.2(KCNMA1):c.34_48del (p.Ser12_Gly16del)
|
|
|
NM_001161352.2(KCNMA1):c.34_54dup (p.Gly18_Gly19insSerGlyGlyGlyGlyGlyGly)
|
|
|
NM_001161352.2(KCNMA1):c.352T>G (p.Cys118Gly)
|
rs2154572103
|
|
NM_001161352.2(KCNMA1):c.3541A>G (p.Asn1181Asp)
|
|
|
NM_001161352.2(KCNMA1):c.3547G>C (p.Gly1183Arg)
|
rs549360933
|
|
NM_001161352.2(KCNMA1):c.3569C>G (p.Ser1190Cys)
|
|
|
NM_001161352.2(KCNMA1):c.3571C>T (p.His1191Tyr)
|
rs2151707984
|
|
NM_001161352.2(KCNMA1):c.3575C>T (p.Ser1192Phe)
|
|
|
NM_001161352.2(KCNMA1):c.3581A>G (p.His1194Arg)
|
rs1589551484
|
|
NM_001161352.2(KCNMA1):c.3587C>T (p.Ser1196Leu)
|
|
|
NM_001161352.2(KCNMA1):c.3590A>G (p.Gln1197Arg)
|
|
|
NM_001161352.2(KCNMA1):c.3598A>T (p.Ser1200Cys)
|
|
|
NM_001161352.2(KCNMA1):c.3608G>T (p.Ser1203Ile)
|
|
|
NM_001161352.2(KCNMA1):c.3611C>T (p.Ser1204Phe)
|
rs2037569843
|
|
NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn)
|
rs1476399505
|
|
NM_001161352.2(KCNMA1):c.361T>C (p.Cys121Arg)
|
rs1390486916
|
|
NM_001161352.2(KCNMA1):c.3623C>A (p.Ser1208Tyr)
|
|
|
NM_001161352.2(KCNMA1):c.362_363delinsTT (p.Cys121Phe)
|
rs2154572100
|
|
NM_001161352.2(KCNMA1):c.3634A>G (p.Thr1212Ala)
|
|
|
NM_001161352.2(KCNMA1):c.3641A>G (p.Asn1214Ser)
|
rs1564710775
|
|
NM_001161352.2(KCNMA1):c.3643C>T (p.Arg1215Ter)
|
rs769151229
|
|
NM_001161352.2(KCNMA1):c.3651C>G (p.Asn1217Lys)
|
|
|
NM_001161352.2(KCNMA1):c.3652C>T (p.Arg1218Trp)
|
rs201703516
|
|
NM_001161352.2(KCNMA1):c.3661T>A (p.Ser1221Thr)
|
rs1313181359
|
|
NM_001161352.2(KCNMA1):c.3664A>G (p.Arg1222Gly)
|
rs199766376
|
|
NM_001161352.2(KCNMA1):c.367G>A (p.Gly123Ser)
|
rs1246413912
|
|
NM_001161352.2(KCNMA1):c.368G>A (p.Gly123Asp)
|
rs2093865429
|
|
NM_001161352.2(KCNMA1):c.3690C>A (p.Tyr1230Ter)
|
rs199569326
|
|
NM_001161352.2(KCNMA1):c.36CGG[10] (p.Gly18_Gly20dup)
|
rs760628050
|
|
NM_001161352.2(KCNMA1):c.36CGG[11] (p.Gly17_Gly20dup)
|
rs760628050
|
|
NM_001161352.2(KCNMA1):c.36CGG[4] (p.Gly18_Gly20del)
|
rs760628050
|
|
NM_001161352.2(KCNMA1):c.36CGG[6] (p.Gly20del)
|
rs760628050
|
|
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup)
|
rs760628050
|
|
NM_001161352.2(KCNMA1):c.36CGG[9] (p.Gly19_Gly20dup)
|
rs760628050
|
|
NM_001161352.2(KCNMA1):c.36_65del (p.Gly13_Ser22del)
|
rs1278021902
|
|
NM_001161352.2(KCNMA1):c.374C>T (p.Thr125Met)
|
rs2154572092
|
|
NM_001161352.2(KCNMA1):c.378+12_378+13delinsAA
|
|
|
NM_001161352.2(KCNMA1):c.378+4A>T
|
|
|
NM_001161352.2(KCNMA1):c.378+5C>A
|
rs757766830
|
|
NM_001161352.2(KCNMA1):c.378+5C>G
|
rs757766830
|
|
NM_001161352.2(KCNMA1):c.389A>G (p.Lys130Arg)
|
|
|
NM_001161352.2(KCNMA1):c.396C>A (p.Asn132Lys)
|
|
|
NM_001161352.2(KCNMA1):c.399T>A (p.Asn133Lys)
|
rs767525618
|
|
NM_001161352.2(KCNMA1):c.411G>C (p.Gln137His)
|
rs1171292177
|
|
NM_001161352.2(KCNMA1):c.418G>A (p.Gly140Ser)
|
|
|
NM_001161352.2(KCNMA1):c.419G>T (p.Gly140Val)
|
rs1566617381
|
|
NM_001161352.2(KCNMA1):c.428A>C (p.Lys143Thr)
|
|
|
NM_001161352.2(KCNMA1):c.436G>A (p.Asp146Asn)
|
|
|
NM_001161352.2(KCNMA1):c.441A>T (p.Glu147Asp)
|
rs2154465169
|
|
NM_001161352.2(KCNMA1):c.447G>C (p.Glu149Asp)
|
rs896386800
|
|
NM_001161352.2(KCNMA1):c.44G>A (p.Gly15Asp)
|
|
|
NM_001161352.2(KCNMA1):c.452C>T (p.Ala151Val)
|
|
|
NM_001161352.2(KCNMA1):c.454G>A (p.Val152Met)
|
rs2096373042
|
|
NM_001161352.2(KCNMA1):c.455T>C (p.Val152Ala)
|
|
|
NM_001161352.2(KCNMA1):c.458C>T (p.Ala153Val)
|
|
|
NM_001161352.2(KCNMA1):c.460G>A (p.Ala154Thr)
|
rs142858967
|
|
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser)
|
rs142858967
|
|
NM_001161352.2(KCNMA1):c.463G>A (p.Glu155Lys)
|
|
|
NM_001161352.2(KCNMA1):c.466G>A (p.Val156Ile)
|
|
|
NM_001161352.2(KCNMA1):c.466G>C (p.Val156Leu)
|
|
|
NM_001161352.2(KCNMA1):c.469G>C (p.Gly157Arg)
|
rs767576877
|
|
NM_001161352.2(KCNMA1):c.46G>A (p.Gly16Ser)
|
|
|
NM_001161352.2(KCNMA1):c.474G>C (p.Trp158Cys)
|
|
|
NM_001161352.2(KCNMA1):c.484G>A (p.Val162Met)
|
|
|
NM_001161352.2(KCNMA1):c.499G>C (p.Gly167Arg)
|
rs2096371606
|
|
NM_001161352.2(KCNMA1):c.506T>C (p.Met169Thr)
|
rs2154465065
|
|
NM_001161352.2(KCNMA1):c.507G>T (p.Met169Ile)
|
|
|
NM_001161352.2(KCNMA1):c.514G>A (p.Ala172Thr)
|
rs2096371289
|
|
NM_001161352.2(KCNMA1):c.52_60dup (p.Gly20_Ser21insGlyGlyGly)
|
|
|
NM_001161352.2(KCNMA1):c.541G>A (p.Val181Ile)
|
|
|
NM_001161352.2(KCNMA1):c.559C>G (p.Leu187Val)
|
rs2059603910
|
|
NM_001161352.2(KCNMA1):c.55G>A (p.Gly19Arg)
|
rs2154572188
|
|
NM_001161352.2(KCNMA1):c.55_60dup (p.Gly19_Gly20dup)
|
rs1350200278
|
|
NM_001161352.2(KCNMA1):c.55_63dup (p.Ser21_Ser22insGlyGlySer)
|
|
|
NM_001161352.2(KCNMA1):c.568G>A (p.Gly190Ser)
|
|
|
NM_001161352.2(KCNMA1):c.584A>C (p.Tyr195Ser)
|
|
|
NM_001161352.2(KCNMA1):c.589A>G (p.Ile197Val)
|
|
|
NM_001161352.2(KCNMA1):c.608T>C (p.Ile203Thr)
|
rs2154127879
|
|
NM_001161352.2(KCNMA1):c.626T>C (p.Phe209Ser)
|
rs1598200324
|
|
NM_001161352.2(KCNMA1):c.644T>C (p.Leu215Ser)
|
|
|
NM_001161352.2(KCNMA1):c.657G>A (p.Met219Ile)
|
rs2098835683
|
|
NM_001161352.2(KCNMA1):c.659C>T (p.Ala220Val)
|
rs7921386
|
|
NM_001161352.2(KCNMA1):c.688G>A (p.Gly230Ser)
|
|
|
NM_001161352.2(KCNMA1):c.68T>A (p.Leu23His)
|
|
|
NM_001161352.2(KCNMA1):c.694C>T (p.Arg232Trp)
|
|
|
NM_001161352.2(KCNMA1):c.700A>T (p.Ile234Phe)
|
rs2154124891
|
|
NM_001161352.2(KCNMA1):c.712G>A (p.Asp238Asn)
|
|
|
NM_001161352.2(KCNMA1):c.733G>C (p.Glu245Gln)
|
|
|
NM_001161352.2(KCNMA1):c.741C>A (p.Asn247Lys)
|
rs2098818815
|
|
NM_001161352.2(KCNMA1):c.761C>T (p.Thr254Met)
|
|
|
NM_001161352.2(KCNMA1):c.802T>C (p.Trp268Arg)
|
rs2098818535
|
|
NM_001161352.2(KCNMA1):c.809G>A (p.Gly270Asp)
|
rs1554841751
|
|
NM_001161352.2(KCNMA1):c.813G>C (p.Leu271Phe)
|
rs2097580642
|
|
NM_001161352.2(KCNMA1):c.868A>C (p.Asn290His)
|
|
|
NM_001161352.2(KCNMA1):c.87C>G (p.Ile29Met)
|
|
|
NM_001161352.2(KCNMA1):c.884+6A>T
|
rs2097580351
|
|
NM_001161352.2(KCNMA1):c.88C>T (p.His30Tyr)
|
|
|
NM_001161352.2(KCNMA1):c.91G>T (p.Ala31Ser)
|
rs1343575385
|
|
NM_001161352.2(KCNMA1):c.960+5_960+8dup
|
|
|
NM_001161352.2(KCNMA1):c.97C>T (p.His33Tyr)
|
rs2093891400
|
|
NM_001242896.3(DEPDC5):c.1010C>G (p.Thr337Arg)
|
rs1037878155
|
|
NM_001242896.3(DEPDC5):c.1018G>T (p.Val340Leu)
|
|
|
NM_001242896.3(DEPDC5):c.1022G>T (p.Gly341Val)
|
|
|
NM_001242896.3(DEPDC5):c.1036G>A (p.Asp346Asn)
|
rs372461930
|
|
NM_001242896.3(DEPDC5):c.1036G>C (p.Asp346His)
|
rs372461930
|
|
NM_001242896.3(DEPDC5):c.1038C>G (p.Asp346Glu)
|
rs1394753838
|
|
NM_001242896.3(DEPDC5):c.1055T>C (p.Leu352Pro)
|
|
|
NM_001242896.3(DEPDC5):c.1064A>G (p.Gln355Arg)
|
|
|
NM_001242896.3(DEPDC5):c.1066C>T (p.Arg356Trp)
|
|
|
NM_001242896.3(DEPDC5):c.1071G>A (p.Met357Ile)
|
|
|
NM_001242896.3(DEPDC5):c.1074A>G (p.Ile358Met)
|
rs1161069560
|
|
NM_001242896.3(DEPDC5):c.1081+4A>G
|
rs757563918
|
|
NM_001242896.3(DEPDC5):c.1111G>A (p.Glu371Lys)
|
|
|
NM_001242896.3(DEPDC5):c.1118C>A (p.Pro373Gln)
|
rs2148649494
|
|
NM_001242896.3(DEPDC5):c.1123C>T (p.His375Tyr)
|
|
|
NM_001242896.3(DEPDC5):c.1124A>G (p.His375Arg)
|
rs748422973
|
|
NM_001242896.3(DEPDC5):c.113T>C (p.Ile38Thr)
|
|
|
NM_001242896.3(DEPDC5):c.1142A>G (p.Lys381Arg)
|
|
|
NM_001242896.3(DEPDC5):c.1143+6T>G
|
rs746751382
|
|
NM_001242896.3(DEPDC5):c.1159G>A (p.Ala387Thr)
|
|
|
NM_001242896.3(DEPDC5):c.1159G>C (p.Ala387Pro)
|
|
|
NM_001242896.3(DEPDC5):c.1160C>T (p.Ala387Val)
|
rs1054663967
|
|
NM_001242896.3(DEPDC5):c.1162C>T (p.Pro388Ser)
|
|
|
NM_001242896.3(DEPDC5):c.1168G>A (p.Asp390Asn)
|
|
|
NM_001242896.3(DEPDC5):c.1169A>G (p.Asp390Gly)
|
|
|
NM_001242896.3(DEPDC5):c.1174C>T (p.Arg392Cys)
|
rs1028964149
|
|
NM_001242896.3(DEPDC5):c.1175G>A (p.Arg392His)
|
|
|
NM_001242896.3(DEPDC5):c.1175G>C (p.Arg392Pro)
|
|
|
NM_001242896.3(DEPDC5):c.1183G>A (p.Asp395Asn)
|
|
|
NM_001242896.3(DEPDC5):c.1190A>G (p.Tyr397Cys)
|
|
|
NM_001242896.3(DEPDC5):c.1202A>G (p.His401Arg)
|
|
|
NM_001242896.3(DEPDC5):c.1214A>G (p.His405Arg)
|
|
|
NM_001242896.3(DEPDC5):c.1218-13G>C
|
|
|
NM_001242896.3(DEPDC5):c.1223A>G (p.Tyr408Cys)
|
rs1602010347
|
|
NM_001242896.3(DEPDC5):c.1234A>G (p.Ser412Gly)
|
|
|
NM_001242896.3(DEPDC5):c.1234_1235delinsTA (p.Ser412Tyr)
|
rs1602010588
|
|
NM_001242896.3(DEPDC5):c.1247G>T (p.Cys416Phe)
|
rs767747105
|
|
NM_001242896.3(DEPDC5):c.1249A>G (p.Asn417Asp)
|
rs763518514
|
|
NM_001242896.3(DEPDC5):c.1249A>T (p.Asn417Tyr)
|
rs763518514
|
|
NM_001242896.3(DEPDC5):c.1250A>G (p.Asn417Ser)
|
rs2148665599
|
|
NM_001242896.3(DEPDC5):c.1253G>T (p.Ser418Ile)
|
rs2087510561
|
|
NM_001242896.3(DEPDC5):c.1269A>G (p.Ile423Met)
|
rs778795541
|
|
NM_001242896.3(DEPDC5):c.1287+15_1287+16del
|
rs2148665907
|
|
NM_001242896.3(DEPDC5):c.1287+4G>C
|
|
|
NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr)
|
rs777844378
|
|
NM_001242896.3(DEPDC5):c.129C>A (p.His43Gln)
|
|
|
NM_001242896.3(DEPDC5):c.130C>T (p.Pro44Ser)
|
|
|
NM_001242896.3(DEPDC5):c.1312G>A (p.Gly438Ser)
|
|
|
NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)
|
|
|
NM_001242896.3(DEPDC5):c.1324+5G>A
|
|
|
NM_001242896.3(DEPDC5):c.1325-12T>A
|
|
|
NM_001242896.3(DEPDC5):c.1369G>A (p.Val457Ile)
|
|
|
NM_001242896.3(DEPDC5):c.1374T>A (p.Asp458Glu)
|
|
|
NM_001242896.3(DEPDC5):c.137A>T (p.Asp46Val)
|
|
|
NM_001242896.3(DEPDC5):c.1382C>T (p.Ala461Val)
|
rs2148707510
|
|
NM_001242896.3(DEPDC5):c.1384T>C (p.Tyr462His)
|
rs2148707527
|
|
NM_001242896.3(DEPDC5):c.140A>G (p.Glu47Gly)
|
rs2082129391
|
|
NM_001242896.3(DEPDC5):c.1412G>A (p.Gly471Asp)
|
rs1351408059
|
|
NM_001242896.3(DEPDC5):c.1414C>T (p.Pro472Ser)
|
|
|
NM_001242896.3(DEPDC5):c.1420C>T (p.Arg474Trp)
|
|
|
NM_001242896.3(DEPDC5):c.1432C>G (p.Leu478Val)
|
|
|
NM_001242896.3(DEPDC5):c.1436C>T (p.Thr479Ile)
|
rs1602054541
|
|
NM_001242896.3(DEPDC5):c.1439C>T (p.Thr480Ile)
|
|
|
NM_001242896.3(DEPDC5):c.1441T>C (p.Cys481Arg)
|
rs2148708095
|
|
NM_001242896.3(DEPDC5):c.1442G>T (p.Cys481Phe)
|
rs2088176060
|
|
NM_001242896.3(DEPDC5):c.1443C>T (p.Cys481=)
|
|
|
NM_001242896.3(DEPDC5):c.1445+5T>G
|
rs894048763
|
|
NM_001242896.3(DEPDC5):c.1445+6C>G
|
rs1275802105
|
|
NM_001242896.3(DEPDC5):c.1446-3C>T
|
|
|
NM_001242896.3(DEPDC5):c.147-3C>G
|
rs1398851556
|
|
NM_001242896.3(DEPDC5):c.1471A>C (p.Ser491Arg)
|
rs2148758633
|
|
NM_001242896.3(DEPDC5):c.1490C>G (p.Ser497Cys)
|
|
|
NM_001242896.3(DEPDC5):c.14A>G (p.Lys5Arg)
|
|
|
NM_001242896.3(DEPDC5):c.1520C>G (p.Pro507Arg)
|
|
|
NM_001242896.3(DEPDC5):c.1526G>A (p.Arg509His)
|
rs372489331
|
|
NM_001242896.3(DEPDC5):c.1526G>T (p.Arg509Leu)
|
rs372489331
|
|
NM_001242896.3(DEPDC5):c.1538C>T (p.Thr513Ile)
|
|
|
NM_001242896.3(DEPDC5):c.1549A>G (p.Arg517Gly)
|
|
|
NM_001242896.3(DEPDC5):c.1557G>C (p.Gln519His)
|
rs2148759335
|
|
NM_001242896.3(DEPDC5):c.155T>A (p.Leu52His)
|
rs2148027396
|
|
NM_001242896.3(DEPDC5):c.1566C>A (p.Asp522Glu)
|
|
|
NM_001242896.3(DEPDC5):c.1573T>C (p.Ser525Pro)
|
rs369966456
|
|
NM_001242896.3(DEPDC5):c.1580G>T (p.Gly527Val)
|
|
|
NM_001242896.3(DEPDC5):c.1589C>T (p.Ala530Val)
|
rs2148759614
|
|
NM_001242896.3(DEPDC5):c.1607C>A (p.Pro536Gln)
|
|
|
NM_001242896.3(DEPDC5):c.1640G>A (p.Ser547Asn)
|
rs1483477312
|
|
NM_001242896.3(DEPDC5):c.1640G>C (p.Ser547Thr)
|
rs1483477312
|
|
NM_001242896.3(DEPDC5):c.1642T>C (p.Ser548Pro)
|
rs2148760176
|
|
NM_001242896.3(DEPDC5):c.1647G>C (p.Leu549Phe)
|
rs2148760235
|
|
NM_001242896.3(DEPDC5):c.1657A>G (p.Ser553Gly)
|
rs1555885142
|
|
NM_001242896.3(DEPDC5):c.1663C>G (p.Arg555Gly)
|
|
|
NM_001242896.3(DEPDC5):c.1666+6A>G
|
rs1323258551
|
|
NM_001242896.3(DEPDC5):c.1681A>G (p.Met561Val)
|
|
|
NM_001242896.3(DEPDC5):c.1683G>C (p.Met561Ile)
|
|
|
NM_001242896.3(DEPDC5):c.1684A>G (p.Met562Val)
|
|
|
NM_001242896.3(DEPDC5):c.1697A>G (p.Gln566Arg)
|
|
|
NM_001242896.3(DEPDC5):c.170C>A (p.Ser57Tyr)
|
rs2148027642
|
|
NM_001242896.3(DEPDC5):c.1729G>C (p.Val577Leu)
|
|
|
NM_001242896.3(DEPDC5):c.1749G>A (p.Met583Ile)
|
|
|
NM_001242896.3(DEPDC5):c.175A>G (p.Lys59Glu)
|
|
|
NM_001242896.3(DEPDC5):c.1766G>A (p.Gly589Asp)
|
rs2148801784
|
|
NM_001242896.3(DEPDC5):c.1786G>A (p.Ala596Thr)
|
|
|
NM_001242896.3(DEPDC5):c.1795A>T (p.Asn599Tyr)
|
|
|
NM_001242896.3(DEPDC5):c.1811C>T (p.Ser604Phe)
|
|
|
NM_001242896.3(DEPDC5):c.1813C>T (p.Arg605Trp)
|
rs1335111412
|
|
NM_001242896.3(DEPDC5):c.1814G>A (p.Arg605Gln)
|
rs760696765
|
|
NM_001242896.3(DEPDC5):c.1838A>G (p.Asn613Ser)
|
rs2089445867
|
|
NM_001242896.3(DEPDC5):c.1858A>G (p.Thr620Ala)
|
|
|
NM_001242896.3(DEPDC5):c.1870G>C (p.Gly624Arg)
|
|
|
NM_001242896.3(DEPDC5):c.1871-8C>G
|
|
|
NM_001242896.3(DEPDC5):c.1871_1872delinsAT (p.Gly624Asp)
|
|
|
NM_001242896.3(DEPDC5):c.1877C>A (p.Ser626Tyr)
|
rs2089694690
|
|
NM_001242896.3(DEPDC5):c.1890C>G (p.Ile630Met)
|
|
|
NM_001242896.3(DEPDC5):c.18C>T (p.Val6=)
|
|
|
NM_001242896.3(DEPDC5):c.1910G>A (p.Arg637Gln)
|
rs751767527
|
|
NM_001242896.3(DEPDC5):c.1910G>T (p.Arg637Leu)
|
|
|
NM_001242896.3(DEPDC5):c.1921G>A (p.Ala641Thr)
|
|
|
NM_001242896.3(DEPDC5):c.193+15_193+18del
|
rs2148028253
|
|
NM_001242896.3(DEPDC5):c.193+3A>G
|
rs2148027911
|
|
NM_001242896.3(DEPDC5):c.193+5G>A
|
rs2082316143
|
|
NM_001242896.3(DEPDC5):c.193+5G>T
|
|
|
NM_001242896.3(DEPDC5):c.1932A>C (p.Gln644His)
|
|
|
NM_001242896.3(DEPDC5):c.1934G>A (p.Gly645Asp)
|
rs1342507454
|
|
NM_001242896.3(DEPDC5):c.1937G>A (p.Ser646Asn)
|
|
|
NM_001242896.3(DEPDC5):c.1939G>A (p.Gly647Arg)
|
|
|
NM_001242896.3(DEPDC5):c.1942C>A (p.Gln648Lys)
|
|
|
NM_001242896.3(DEPDC5):c.1948G>A (p.Asp650Asn)
|
|
|
NM_001242896.3(DEPDC5):c.1948G>T (p.Asp650Tyr)
|
|
|
NM_001242896.3(DEPDC5):c.1952C>A (p.Pro651Gln)
|
rs768683931
|
|
NM_001242896.3(DEPDC5):c.1976T>A (p.Leu659Gln)
|
rs2148822130
|
|
NM_001242896.3(DEPDC5):c.1987T>C (p.Tyr663His)
|
|
|
NM_001242896.3(DEPDC5):c.1991A>G (p.His664Arg)
|
|
|
NM_001242896.3(DEPDC5):c.1997C>T (p.Ala666Val)
|
rs2089707651
|
|
NM_001242896.3(DEPDC5):c.1A>G (p.Met1Val)
|
rs2147930155
|
|
NM_001242896.3(DEPDC5):c.2002G>A (p.Gly668Arg)
|
rs2148822327
|
|
NM_001242896.3(DEPDC5):c.2006+17G>C
|
|
|
NM_001242896.3(DEPDC5):c.2007-13C>T
|
|
|
NM_001242896.3(DEPDC5):c.2007G>C (p.Arg669Ser)
|
|
|
NM_001242896.3(DEPDC5):c.2012G>A (p.Ser671Asn)
|
rs2148829704
|
|
NM_001242896.3(DEPDC5):c.2015A>G (p.Asn672Ser)
|
|
|
NM_001242896.3(DEPDC5):c.2024A>G (p.Gln675Arg)
|
|
|
NM_001242896.3(DEPDC5):c.2032G>A (p.Asp678Asn)
|
|
|
NM_001242896.3(DEPDC5):c.2036G>A (p.Gly679Asp)
|
rs865876158
|
|
NM_001242896.3(DEPDC5):c.2037C>T (p.Gly679=)
|
rs2148830009
|
|
NM_001242896.3(DEPDC5):c.2055C>G (p.Phe685Leu)
|
rs61731667
|
|
NM_001242896.3(DEPDC5):c.2056A>G (p.Ser686Gly)
|
|
|
NM_001242896.3(DEPDC5):c.2101G>A (p.Ala701Thr)
|
rs2089821108
|
|
NM_001242896.3(DEPDC5):c.2102C>T (p.Ala701Val)
|
|
|
NM_001242896.3(DEPDC5):c.2103A>G (p.Ala701=)
|
|
|
NM_001242896.3(DEPDC5):c.2118G>C (p.Arg706Ser)
|
|
|
NM_001242896.3(DEPDC5):c.2120C>A (p.Thr707Asn)
|
|
|
NM_001242896.3(DEPDC5):c.2122C>G (p.Gln708Glu)
|
rs2148924357
|
|
NM_001242896.3(DEPDC5):c.2147G>A (p.Ser716Asn)
|
|
|
NM_001242896.3(DEPDC5):c.2159C>T (p.Ser720Phe)
|
|
|
NM_001242896.3(DEPDC5):c.2164G>C (p.Asp722His)
|
|
|
NM_001242896.3(DEPDC5):c.2168C>G (p.Pro723Arg)
|
|
|
NM_001242896.3(DEPDC5):c.2171-11dup
|
rs769116792
|
|
NM_001242896.3(DEPDC5):c.2177C>T (p.Thr726Ile)
|
rs1569059850
|
|
NM_001242896.3(DEPDC5):c.2188C>T (p.Pro730Ser)
|
|
|
NM_001242896.3(DEPDC5):c.2199_2201dup (p.Pro734_Gly735insPro)
|
|
|
NM_001242896.3(DEPDC5):c.2200C>T (p.Pro734Ser)
|
rs1348865744
|
|
NM_001242896.3(DEPDC5):c.2204G>A (p.Gly735Asp)
|
rs2091055448
|
|
NM_001242896.3(DEPDC5):c.2210G>A (p.Cys737Tyr)
|
|
|
NM_001242896.3(DEPDC5):c.2222G>A (p.Gly741Glu)
|
|
|
NM_001242896.3(DEPDC5):c.224A>C (p.Gln75Pro)
|
rs2082695082
|
|
NM_001242896.3(DEPDC5):c.2288G>T (p.Arg763Leu)
|
rs542384516
|
|
NM_001242896.3(DEPDC5):c.233G>A (p.Arg78Gln)
|
rs373578854
|
|
NM_001242896.3(DEPDC5):c.2350G>A (p.Asp784Asn)
|
rs776885208
|
|
NM_001242896.3(DEPDC5):c.2354G>A (p.Arg785Lys)
|
rs1346133779
|
|
NM_001242896.3(DEPDC5):c.2356A>G (p.Arg786Gly)
|
|
|
NM_001242896.3(DEPDC5):c.2366A>G (p.Asp789Gly)
|
|
|
NM_001242896.3(DEPDC5):c.2371G>A (p.Val791Met)
|
|
|
NM_001242896.3(DEPDC5):c.2416C>T (p.Arg806Cys)
|
rs953743301
|
|
NM_001242896.3(DEPDC5):c.2422A>G (p.Met808Val)
|
rs1555897260
|
|
NM_001242896.3(DEPDC5):c.2424G>T (p.Met808Ile)
|
|
|
NM_001242896.3(DEPDC5):c.2440A>G (p.Ile814Val)
|
|
|
NM_001242896.3(DEPDC5):c.2442A>G (p.Ile814Met)
|
|
|
NM_001242896.3(DEPDC5):c.2458C>A (p.Gln820Lys)
|
rs2148968487
|
|
NM_001242896.3(DEPDC5):c.2464C>T (p.Pro822Ser)
|
rs781677679
|
|
NM_001242896.3(DEPDC5):c.2465C>T (p.Pro822Leu)
|
|
|
NM_001242896.3(DEPDC5):c.2470C>T (p.Pro824Ser)
|
rs1357973408
|
|
NM_001242896.3(DEPDC5):c.2471C>G (p.Pro824Arg)
|
rs2148968635
|
|
NM_001242896.3(DEPDC5):c.2476G>T (p.Val826Phe)
|
rs1468914738
|
|
NM_001242896.3(DEPDC5):c.2482C>A (p.Pro828Thr)
|
rs200526736
|
|
NM_001242896.3(DEPDC5):c.2521G>A (p.Val841Met)
|
rs1555899402
|
|
NM_001242896.3(DEPDC5):c.2554T>C (p.Tyr852His)
|
rs181352850
|
|
NM_001242896.3(DEPDC5):c.2557T>G (p.Trp853Gly)
|
|
|
NM_001242896.3(DEPDC5):c.2558G>C (p.Trp853Ser)
|
|
|
NM_001242896.3(DEPDC5):c.2560C>G (p.Leu854Val)
|
rs1602350218
|
|
NM_001242896.3(DEPDC5):c.2568G>C (p.Met856Ile)
|
|
|
NM_001242896.3(DEPDC5):c.256T>C (p.Tyr86His)
|
rs752067925
|
|
NM_001242896.3(DEPDC5):c.2578T>C (p.Phe860Leu)
|
|
|
NM_001242896.3(DEPDC5):c.2581C>T (p.His861Tyr)
|
rs2149004473
|
|
NM_001242896.3(DEPDC5):c.2583C>G (p.His861Gln)
|
|
|
NM_001242896.3(DEPDC5):c.2588T>C (p.Val863Ala)
|
rs1254155768
|
|
NM_001242896.3(DEPDC5):c.2590A>G (p.Thr864Ala)
|
rs752198928
|
|
NM_001242896.3(DEPDC5):c.2608A>G (p.Ile870Val)
|
rs573955848
|
|
NM_001242896.3(DEPDC5):c.2621G>A (p.Arg874Gln)
|
rs1602350746
|
|
NM_001242896.3(DEPDC5):c.2632A>C (p.Lys878Gln)
|
|
|
NM_001242896.3(DEPDC5):c.2633+5G>A
|
rs2149004867
|
|
NM_001242896.3(DEPDC5):c.2650G>A (p.Ala884Thr)
|
|
|
NM_001242896.3(DEPDC5):c.2651C>T (p.Ala884Val)
|
rs2149008615
|
|
NM_001242896.3(DEPDC5):c.2657T>C (p.Ile886Thr)
|
rs2149008707
|
|
NM_001242896.3(DEPDC5):c.2659C>A (p.His887Asn)
|
rs751284078
|
|
NM_001242896.3(DEPDC5):c.2660A>T (p.His887Leu)
|
|
|
NM_001242896.3(DEPDC5):c.2661C>A (p.His887Gln)
|
rs1555899801
|
|
NM_001242896.3(DEPDC5):c.2663A>T (p.Tyr888Phe)
|
|
|
NM_001242896.3(DEPDC5):c.2666C>T (p.Thr889Ile)
|
rs2149008846
|
|
NM_001242896.3(DEPDC5):c.2674C>T (p.Leu892Phe)
|
|
|
NM_001242896.3(DEPDC5):c.2692G>T (p.Asp898Tyr)
|
rs1421058201
|
|
NM_001242896.3(DEPDC5):c.2702T>C (p.Phe901Ser)
|
|
|
NM_001242896.3(DEPDC5):c.2707T>C (p.Ser903Pro)
|
|
|
NM_001242896.3(DEPDC5):c.2710T>G (p.Cys904Gly)
|
|
|
NM_001242896.3(DEPDC5):c.2715G>C (p.Trp905Cys)
|
rs1261463857
|
|
NM_001242896.3(DEPDC5):c.2725T>G (p.Ser909Ala)
|
|
|
NM_001242896.3(DEPDC5):c.2734C>T (p.Arg912Trp)
|
rs528863179
|
|
NM_001242896.3(DEPDC5):c.2735G>T (p.Arg912Leu)
|
|
|
NM_001242896.3(DEPDC5):c.2745G>T (p.Glu915Asp)
|
rs373602490
|
|
NM_001242896.3(DEPDC5):c.2750A>G (p.Lys917Arg)
|
|
|
NM_001242896.3(DEPDC5):c.275C>G (p.Pro92Arg)
|
|
|
NM_001242896.3(DEPDC5):c.2767C>G (p.Gln923Glu)
|
rs2149009626
|
|
NM_001242896.3(DEPDC5):c.2768A>G (p.Gln923Arg)
|
|
|
NM_001242896.3(DEPDC5):c.2801+19G>T
|
|
|
NM_001242896.3(DEPDC5):c.2808T>G (p.Ile936Met)
|
rs2091642875
|
|
NM_001242896.3(DEPDC5):c.280G>T (p.Asp94Tyr)
|
rs2082839289
|
|
NM_001242896.3(DEPDC5):c.2816T>C (p.Leu939Pro)
|
|
|
NM_001242896.3(DEPDC5):c.2823C>G (p.Phe941Leu)
|
rs1555900811
|
|
NM_001242896.3(DEPDC5):c.2839C>A (p.Leu947Met)
|
|
|
NM_001242896.3(DEPDC5):c.2846T>C (p.Leu949Pro)
|
|
|
NM_001242896.3(DEPDC5):c.286A>T (p.Thr96Ser)
|
|
|
NM_001242896.3(DEPDC5):c.2872C>T (p.Arg958Cys)
|
|
|
NM_001242896.3(DEPDC5):c.2884G>C (p.Gly962Arg)
|
|
|
NM_001242896.3(DEPDC5):c.2924C>T (p.Ala975Val)
|
|
|
NM_001242896.3(DEPDC5):c.2934C>A (p.Asp978Glu)
|
|
|
NM_001242896.3(DEPDC5):c.2935G>A (p.Glu979Lys)
|
rs2091651367
|
|
NM_001242896.3(DEPDC5):c.2937G>C (p.Glu979Asp)
|
rs1602368020
|
|
NM_001242896.3(DEPDC5):c.2953G>A (p.Gly985Ser)
|
|
|
NM_001242896.3(DEPDC5):c.2963G>T (p.Arg988Leu)
|
|
|
NM_001242896.3(DEPDC5):c.2984G>A (p.Arg995His)
|
|
|
NM_001242896.3(DEPDC5):c.2986A>G (p.Ile996Val)
|
rs2149024866
|
|
NM_001242896.3(DEPDC5):c.2989C>T (p.Arg997Cys)
|
rs1555900981
|
|
NM_001242896.3(DEPDC5):c.3010C>T (p.Arg1004Cys)
|
|
|
NM_001242896.3(DEPDC5):c.3016A>T (p.Met1006Leu)
|
|
|
NM_001242896.3(DEPDC5):c.3029C>T (p.Thr1010Ile)
|
|
|
NM_001242896.3(DEPDC5):c.3031G>A (p.Ala1011Thr)
|
rs764941727
|
|
NM_001242896.3(DEPDC5):c.3031G>T (p.Ala1011Ser)
|
rs764941727
|
|
NM_001242896.3(DEPDC5):c.3036G>A (p.Met1012Ile)
|
|
|
NM_001242896.3(DEPDC5):c.3050T>C (p.Met1017Thr)
|
|
|
NM_001242896.3(DEPDC5):c.3056G>C (p.Gly1019Ala)
|
|
|
NM_001242896.3(DEPDC5):c.3085A>C (p.Thr1029Pro)
|
rs537257402
|
|
NM_001242896.3(DEPDC5):c.3091C>T (p.Pro1031Ser)
|
|
|
NM_001242896.3(DEPDC5):c.3094C>T (p.Pro1032Ser)
|
rs770979723
|
|
NM_001242896.3(DEPDC5):c.3097G>A (p.Val1033Met)
|
rs376313159
|
|
NM_001242896.3(DEPDC5):c.3097G>C (p.Val1033Leu)
|
rs376313159
|
|
NM_001242896.3(DEPDC5):c.3138G>T (p.Glu1046Asp)
|
rs2149038350
|
|
NM_001242896.3(DEPDC5):c.3155+5G>A
|
|
|
NM_001242896.3(DEPDC5):c.3169C>A (p.Gln1057Lys)
|
|
|
NM_001242896.3(DEPDC5):c.3169C>G (p.Gln1057Glu)
|
rs1602471069
|
|
NM_001242896.3(DEPDC5):c.3169CAG[1] (p.Gln1058del)
|
rs2149117083
|
|
NM_001242896.3(DEPDC5):c.3170A>C (p.Gln1057Pro)
|
rs2092345185
|
|
NM_001242896.3(DEPDC5):c.3187G>C (p.Gly1063Arg)
|
rs2149117292
|
|
NM_001242896.3(DEPDC5):c.3188G>A (p.Gly1063Asp)
|
rs2149117311
|
|
NM_001242896.3(DEPDC5):c.3202G>C (p.Ala1068Pro)
|
rs763158282
|
|
NM_001242896.3(DEPDC5):c.3206A>G (p.Gln1069Arg)
|
|
|
NM_001242896.3(DEPDC5):c.3209C>T (p.Ser1070Leu)
|
|
|
NM_001242896.3(DEPDC5):c.3216G>C (p.Glu1072Asp)
|
rs753608617
|
|
NM_001242896.3(DEPDC5):c.3218G>A (p.Ser1073Asn)
|
rs375884815
|
|
NM_001242896.3(DEPDC5):c.3223A>G (p.Ser1075Gly)
|
rs376555106
|
|
NM_001242896.3(DEPDC5):c.3224G>A (p.Ser1075Asn)
|
rs1399730598
|
|
NM_001242896.3(DEPDC5):c.3226G>A (p.Val1076Ile)
|
|
|
NM_001242896.3(DEPDC5):c.3235A>G (p.Thr1079Ala)
|
rs878854278
|
|
NM_001242896.3(DEPDC5):c.3236C>T (p.Thr1079Ile)
|
|
|
NM_001242896.3(DEPDC5):c.3242C>T (p.Thr1081Ile)
|
rs2092348833
|
|
NM_001242896.3(DEPDC5):c.3247A>G (p.Met1083Val)
|
|
|
NM_001242896.3(DEPDC5):c.3256C>G (p.Pro1086Ala)
|
|
|
NM_001242896.3(DEPDC5):c.3257C>A (p.Pro1086Gln)
|
|
|
NM_001242896.3(DEPDC5):c.3259C>G (p.Arg1087Gly)
|
|
|
NM_001242896.3(DEPDC5):c.3292C>G (p.Arg1098Gly)
|
rs777509933
|
|
NM_001242896.3(DEPDC5):c.3295A>G (p.Ser1099Gly)
|
|
|
NM_001242896.3(DEPDC5):c.329G>T (p.Gly110Val)
|
|
|
NM_001242896.3(DEPDC5):c.3301C>T (p.Arg1101Cys)
|
|
|
NM_001242896.3(DEPDC5):c.3305C>T (p.Thr1102Ile)
|
rs528786894
|
|
NM_001242896.3(DEPDC5):c.3319T>G (p.Phe1107Val)
|
|
|
NM_001242896.3(DEPDC5):c.3323A>G (p.Tyr1108Cys)
|
|
|
NM_001242896.3(DEPDC5):c.3326C>T (p.Pro1109Leu)
|
|
|
NM_001242896.3(DEPDC5):c.3329A>G (p.Gln1110Arg)
|
rs1555909576
|
|
NM_001242896.3(DEPDC5):c.332G>A (p.Arg111His)
|
rs878854279
|
|
NM_001242896.3(DEPDC5):c.3331-11A>G
|
|
|
NM_001242896.3(DEPDC5):c.3340G>C (p.Asp1114His)
|
rs1029839829
|
|
NM_001242896.3(DEPDC5):c.3347C>A (p.Thr1116Lys)
|
|
|
NM_001242896.3(DEPDC5):c.3353C>T (p.Thr1118Ile)
|
|
|
NM_001242896.3(DEPDC5):c.3355C>T (p.Pro1119Ser)
|
|
|
NM_001242896.3(DEPDC5):c.3366C>A (p.Asp1122Glu)
|
|
|
NM_001242896.3(DEPDC5):c.3380G>T (p.Gly1127Val)
|
rs941078167
|
|
NM_001242896.3(DEPDC5):c.3392G>A (p.Gly1131Asp)
|
|
|
NM_001242896.3(DEPDC5):c.3400A>G (p.Met1134Val)
|
|
|
NM_001242896.3(DEPDC5):c.3401T>C (p.Met1134Thr)
|
|
|
NM_001242896.3(DEPDC5):c.3403G>A (p.Asp1135Asn)
|
rs896871427
|
|
NM_001242896.3(DEPDC5):c.3412A>C (p.Asn1138His)
|
|
|
NM_001242896.3(DEPDC5):c.3416G>C (p.Ser1139Thr)
|
rs2092816043
|
|
NM_001242896.3(DEPDC5):c.3422C>T (p.Thr1141Ile)
|
rs926750227
|
|
NM_001242896.3(DEPDC5):c.3425T>C (p.Phe1142Ser)
|
rs2092816186
|
|
NM_001242896.3(DEPDC5):c.3427G>A (p.Gly1143Arg)
|
rs1479727000
|
|
NM_001242896.3(DEPDC5):c.3436C>G (p.Gln1146Glu)
|
|
|
NM_001242896.3(DEPDC5):c.3437A>G (p.Gln1146Arg)
|
rs1555913525
|
|
NM_001242896.3(DEPDC5):c.3439A>C (p.Asn1147His)
|
rs2092816522
|
|
NM_001242896.3(DEPDC5):c.3444A>G (p.Ile1148Met)
|
|
|
NM_001242896.3(DEPDC5):c.3455G>T (p.Gly1152Val)
|
rs2149231484
|
|
NM_001242896.3(DEPDC5):c.3455_3457dup (p.Gly1152_Tyr1153insCys)
|
rs2092816876
|
|
NM_001242896.3(DEPDC5):c.3457T>C (p.Tyr1153His)
|
|
|
NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val)
|
rs1419496771
|
|
NM_001242896.3(DEPDC5):c.347G>T (p.Arg116Leu)
|
rs777623410
|
|
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly)
|
rs886039280
|
|
NM_001242896.3(DEPDC5):c.3486-12C>T
|
|
|
NM_001242896.3(DEPDC5):c.3493C>A (p.Gln1165Lys)
|
|
|
NM_001242896.3(DEPDC5):c.3509C>T (p.Ser1170Phe)
|
|
|
NM_001242896.3(DEPDC5):c.3550A>T (p.Met1184Leu)
|
|
|
NM_001242896.3(DEPDC5):c.3571G>A (p.Val1191Ile)
|
|
|
NM_001242896.3(DEPDC5):c.3571G>C (p.Val1191Leu)
|
rs777200870
|
|
NM_001242896.3(DEPDC5):c.3578T>A (p.Leu1193Gln)
|
rs2092931592
|
|
NM_001242896.3(DEPDC5):c.358A>T (p.Ser120Cys)
|
|
|
NM_001242896.3(DEPDC5):c.3590A>G (p.Gln1197Arg)
|
|
|
NM_001242896.3(DEPDC5):c.3596G>A (p.Gly1199Asp)
|
|
|
NM_001242896.3(DEPDC5):c.3613T>C (p.Phe1205Leu)
|
|
|
NM_001242896.3(DEPDC5):c.3614T>G (p.Phe1205Cys)
|
rs2149256525
|
|
NM_001242896.3(DEPDC5):c.361T>G (p.Leu121Val)
|
rs2148128852
|
|
NM_001242896.3(DEPDC5):c.3620G>C (p.Ser1207Thr)
|
rs2092932829
|
|
NM_001242896.3(DEPDC5):c.363+6A>G
|
rs933571182
|
|
NM_001242896.3(DEPDC5):c.3635A>G (p.His1212Arg)
|
|
|
NM_001242896.3(DEPDC5):c.3636C>G (p.His1212Gln)
|
rs2092933328
|
|
NM_001242896.3(DEPDC5):c.363G>T (p.Leu121Phe)
|
rs2082845017
|
|
NM_001242896.3(DEPDC5):c.3640T>G (p.Leu1214Val)
|
|
|
NM_001242896.3(DEPDC5):c.3663C>G (p.Ile1221Met)
|
|
|
NM_001242896.3(DEPDC5):c.3674C>T (p.Ala1225Val)
|
|
|
NM_001242896.3(DEPDC5):c.3679G>T (p.Ala1227Ser)
|
rs2149256987
|
|
NM_001242896.3(DEPDC5):c.3682A>C (p.Ile1228Leu)
|
|
|
NM_001242896.3(DEPDC5):c.3693G>A (p.Met1231Ile)
|
rs2092934953
|
|
NM_001242896.3(DEPDC5):c.3696+2dup
|
|
|
NM_001242896.3(DEPDC5):c.3697-13A>G
|
|
|
NM_001242896.3(DEPDC5):c.3703C>G (p.Leu1235Val)
|
rs766933880
|
|
NM_001242896.3(DEPDC5):c.3709G>A (p.Glu1237Lys)
|
rs2092986144
|
|
NM_001242896.3(DEPDC5):c.3725A>G (p.His1242Arg)
|
rs750097398
|
|
NM_001242896.3(DEPDC5):c.3730T>C (p.Ser1244Pro)
|
|
|
NM_001242896.3(DEPDC5):c.3731C>G (p.Ser1244Cys)
|
rs755768537
|
|
NM_001242896.3(DEPDC5):c.3745C>T (p.Arg1249Trp)
|
|
|
NM_001242896.3(DEPDC5):c.3758A>G (p.Tyr1253Cys)
|
rs2092987722
|
|
NM_001242896.3(DEPDC5):c.3760G>A (p.Gly1254Ser)
|
|
|
NM_001242896.3(DEPDC5):c.376G>A (p.Ala126Thr)
|
rs1008310202
|
|
NM_001242896.3(DEPDC5):c.3776A>G (p.Lys1259Arg)
|
|
|
NM_001242896.3(DEPDC5):c.3799G>A (p.Asp1267Asn)
|
rs1340279120
|
|
NM_001242896.3(DEPDC5):c.3799G>T (p.Asp1267Tyr)
|
rs1340279120
|
|
NM_001242896.3(DEPDC5):c.3809C>T (p.Ala1270Val)
|
|
|
NM_001242896.3(DEPDC5):c.3821C>T (p.Pro1274Leu)
|
|
|
NM_001242896.3(DEPDC5):c.3823G>C (p.Ala1275Pro)
|
rs1453526282
|
|
NM_001242896.3(DEPDC5):c.3833G>T (p.Trp1278Leu)
|
rs1569185783
|
|
NM_001242896.3(DEPDC5):c.3839C>T (p.Thr1280Ile)
|
|
|
NM_001242896.3(DEPDC5):c.3852C>A (p.Asp1284Glu)
|
rs773340826
|
|
NM_001242896.3(DEPDC5):c.3859G>T (p.Ala1287Ser)
|
rs867268278
|
|
NM_001242896.3(DEPDC5):c.3875A>C (p.Lys1292Thr)
|
rs1602677961
|
|
NM_001242896.3(DEPDC5):c.3876G>C (p.Lys1292Asn)
|
rs1602677998
|
|
NM_001242896.3(DEPDC5):c.3884_3889del (p.Glu1295_Val1296del)
|
rs2149294996
|
|
NM_001242896.3(DEPDC5):c.3886G>T (p.Val1296Leu)
|
rs1569186162
|
|
NM_001242896.3(DEPDC5):c.3889G>T (p.Ala1297Ser)
|
|
|
NM_001242896.3(DEPDC5):c.3898G>A (p.Ala1300Thr)
|
rs1395522861
|
|
NM_001242896.3(DEPDC5):c.3901G>C (p.Glu1301Gln)
|
rs762142759
|
|
NM_001242896.3(DEPDC5):c.3907C>G (p.Leu1303Val)
|
|
|
NM_001242896.3(DEPDC5):c.3910G>T (p.Val1304Leu)
|
rs750936617
|
|
NM_001242896.3(DEPDC5):c.3925C>T (p.Pro1309Ser)
|
|
|
NM_001242896.3(DEPDC5):c.3934C>T (p.Leu1312Phe)
|
rs2093121640
|
|
NM_001242896.3(DEPDC5):c.3940C>T (p.Pro1314Ser)
|
rs2093121770
|
|
NM_001242896.3(DEPDC5):c.3952A>C (p.Ser1318Arg)
|
rs1602678715
|
|
NM_001242896.3(DEPDC5):c.397G>C (p.Glu133Gln)
|
rs1341691013
|
|
NM_001242896.3(DEPDC5):c.3989T>A (p.Phe1330Tyr)
|
rs2093123100
|
|
NM_001242896.3(DEPDC5):c.4008A>G (p.Gly1336=)
|
|
|
NM_001242896.3(DEPDC5):c.4009C>T (p.Arg1337Trp)
|
|
|
NM_001242896.3(DEPDC5):c.4013G>A (p.Ser1338Asn)
|
|
|
NM_001242896.3(DEPDC5):c.4034-4A>G
|
rs2093485743
|
|
NM_001242896.3(DEPDC5):c.4042G>A (p.Val1348Ile)
|
rs1380088913
|
|
NM_001242896.3(DEPDC5):c.4049A>T (p.Glu1350Val)
|
|
|
NM_001242896.3(DEPDC5):c.4058C>T (p.Thr1353Ile)
|
rs1163140081
|
|
NM_001242896.3(DEPDC5):c.4076A>T (p.Asp1359Val)
|
|
|
NM_001242896.3(DEPDC5):c.4078G>A (p.Val1360Met)
|
|
|
NM_001242896.3(DEPDC5):c.4088G>A (p.Arg1363His)
|
|
|
NM_001242896.3(DEPDC5):c.4091C>T (p.Thr1364Ile)
|
|
|
NM_001242896.3(DEPDC5):c.4093G>A (p.Asp1365Asn)
|
rs1191285429
|
|
NM_001242896.3(DEPDC5):c.4093G>T (p.Asp1365Tyr)
|
rs1191285429
|
|
NM_001242896.3(DEPDC5):c.4108T>A (p.Cys1370Ser)
|
rs771269120
|
|
NM_001242896.3(DEPDC5):c.411C>T (p.Ile137=)
|
|
|
NM_001242896.3(DEPDC5):c.4126G>A (p.Gly1376Ser)
|
rs1555929990
|
|
NM_001242896.3(DEPDC5):c.413+5A>G
|
|
|
NM_001242896.3(DEPDC5):c.413+6T>C
|
rs748450091
|
|
NM_001242896.3(DEPDC5):c.4131C>G (p.Asn1377Lys)
|
|
|
NM_001242896.3(DEPDC5):c.4136C>A (p.Ser1379Tyr)
|
rs765244692
|
|
NM_001242896.3(DEPDC5):c.414-11_414-4del
|
|
|
NM_001242896.3(DEPDC5):c.414-3C>G
|
|
|
NM_001242896.3(DEPDC5):c.4144G>A (p.Ala1382Thr)
|
rs2093488105
|
|
NM_001242896.3(DEPDC5):c.414A>G (p.Arg138=)
|
rs200421648
|
|
NM_001242896.3(DEPDC5):c.4154A>C (p.Glu1385Ala)
|
rs2149378618
|
|
NM_001242896.3(DEPDC5):c.4156A>C (p.Ile1386Leu)
|
rs1555930038
|
|
NM_001242896.3(DEPDC5):c.4163T>C (p.Leu1388Pro)
|
rs1446980540
|
|
NM_001242896.3(DEPDC5):c.4183G>T (p.Ala1395Ser)
|
|
|
NM_001242896.3(DEPDC5):c.4204-3C>G
|
rs2149397030
|
|
NM_001242896.3(DEPDC5):c.4210G>C (p.Gly1404Arg)
|
|
|
NM_001242896.3(DEPDC5):c.4228_4245del (p.Thr1410_Leu1415del)
|
|
|
NM_001242896.3(DEPDC5):c.422C>T (p.Ala141Val)
|
|
|
NM_001242896.3(DEPDC5):c.4235G>C (p.Cys1412Ser)
|
|
|
NM_001242896.3(DEPDC5):c.424G>A (p.Gly142Ser)
|
|
|
NM_001242896.3(DEPDC5):c.4252C>G (p.Pro1418Ala)
|
|
|
NM_001242896.3(DEPDC5):c.425_427dup (p.Gly142dup)
|
rs761114750
|
|
NM_001242896.3(DEPDC5):c.4264G>A (p.Gly1422Arg)
|
rs2093575232
|
|
NM_001242896.3(DEPDC5):c.4270T>G (p.Phe1424Val)
|
|
|
NM_001242896.3(DEPDC5):c.4282A>G (p.Ser1428Gly)
|
|
|
NM_001242896.3(DEPDC5):c.4297G>A (p.Asp1433Asn)
|
rs766385762
|
|
NM_001242896.3(DEPDC5):c.4306C>A (p.Arg1436Ser)
|
|
|
NM_001242896.3(DEPDC5):c.431T>C (p.Leu144Pro)
|
|
|
NM_001242896.3(DEPDC5):c.4320C>T (p.Phe1440=)
|
|
|
NM_001242896.3(DEPDC5):c.4323C>G (p.Ile1441Met)
|
rs2149397656
|
|
NM_001242896.3(DEPDC5):c.4333A>G (p.Ile1445Val)
|
|
|
NM_001242896.3(DEPDC5):c.4338C>G (p.Ser1446Arg)
|
|
|
NM_001242896.3(DEPDC5):c.4355G>A (p.Gly1452Asp)
|
|
|
NM_001242896.3(DEPDC5):c.4360G>A (p.Glu1454Lys)
|
rs962190440
|
|
NM_001242896.3(DEPDC5):c.4364A>C (p.His1455Pro)
|
|
|
NM_001242896.3(DEPDC5):c.4367T>C (p.Leu1456Pro)
|
rs1362296192
|
|
NM_001242896.3(DEPDC5):c.4370T>G (p.Phe1457Cys)
|
rs2093577056
|
|
NM_001242896.3(DEPDC5):c.4376G>A (p.Ser1459Asn)
|
rs1245607244
|
|
NM_001242896.3(DEPDC5):c.4403G>A (p.Arg1468Gln)
|
rs780509997
|
|
NM_001242896.3(DEPDC5):c.4405A>G (p.Met1469Val)
|
rs2093652593
|
|
NM_001242896.3(DEPDC5):c.4408C>T (p.His1470Tyr)
|
rs1064795311
|
|
NM_001242896.3(DEPDC5):c.4410C>A (p.His1470Gln)
|
rs372176746
|
|
NM_001242896.3(DEPDC5):c.4411C>T (p.Leu1471Phe)
|
rs2149419770
|
|
NM_001242896.3(DEPDC5):c.4427T>C (p.Ile1476Thr)
|
rs2093653111
|
|
NM_001242896.3(DEPDC5):c.4445T>C (p.Phe1482Ser)
|
rs2149447579
|
|
NM_001242896.3(DEPDC5):c.4446T>G (p.Phe1482Leu)
|
|
|
NM_001242896.3(DEPDC5):c.445G>A (p.Glu149Lys)
|
rs2084067532
|
|
NM_001242896.3(DEPDC5):c.4484C>G (p.Pro1495Arg)
|
rs2093751685
|
|
NM_001242896.3(DEPDC5):c.4507A>G (p.Ile1503Val)
|
|
|
NM_001242896.3(DEPDC5):c.4520-2A>G
|
rs1555942859
|
|
NM_001242896.3(DEPDC5):c.4520-37_4520-14del
|
|
|
NM_001242896.3(DEPDC5):c.4532T>G (p.Leu1511Arg)
|
|
|
NM_001242896.3(DEPDC5):c.4541C>T (p.Pro1514Leu)
|
rs1294976211
|
|
NM_001242896.3(DEPDC5):c.454A>T (p.Met152Leu)
|
|
|
NM_001242896.3(DEPDC5):c.4553G>T (p.Arg1518Leu)
|
|
|
NM_001242896.3(DEPDC5):c.4559T>A (p.Phe1520Tyr)
|
rs2093756441
|
|
NM_001242896.3(DEPDC5):c.4563_4568del (p.Gly1522_Gln1523del)
|
|
|
NM_001242896.3(DEPDC5):c.4568A>C (p.Gln1523Pro)
|
rs2093756716
|
|
NM_001242896.3(DEPDC5):c.4568AGC[1] (p.Gln1524del)
|
rs1296781205
|
|
NM_001242896.3(DEPDC5):c.4573C>T (p.Arg1525Trp)
|
rs1223453056
|
|
NM_001242896.3(DEPDC5):c.4573CGG[5] (p.Arg1528_Asn1529insArg)
|
|
|
NM_001242896.3(DEPDC5):c.4576C>T (p.Arg1526Trp)
|
|
|
NM_001242896.3(DEPDC5):c.4579C>T (p.Arg1527Trp)
|
rs2093757123
|
|
NM_001242896.3(DEPDC5):c.4586A>G (p.Asn1529Ser)
|
rs773450879
|
|
NM_001242896.3(DEPDC5):c.458G>A (p.Cys153Tyr)
|
rs2148328919
|
|
NM_001242896.3(DEPDC5):c.4592C>A (p.Thr1531Asn)
|
rs1064794532
|
|
NM_001242896.3(DEPDC5):c.4595G>A (p.Ser1532Asn)
|
|
|
NM_001242896.3(DEPDC5):c.4605C>G (p.Asn1535Lys)
|
|
|
NM_001242896.3(DEPDC5):c.4608G>T (p.Gln1536His)
|
|
|
NM_001242896.3(DEPDC5):c.4619G>A (p.Cys1540Tyr)
|
|
|
NM_001242896.3(DEPDC5):c.4621G>A (p.Glu1541Lys)
|
rs2149449183
|
|
NM_001242896.3(DEPDC5):c.4627C>T (p.Arg1543Trp)
|
rs780294726
|
|
NM_001242896.3(DEPDC5):c.4633G>A (p.Gly1545Ser)
|
rs1229311796
|
|
NM_001242896.3(DEPDC5):c.4637A>G (p.Tyr1546Cys)
|
|
|
NM_001242896.3(DEPDC5):c.4640A>G (p.Asn1547Ser)
|
|
|
NM_001242896.3(DEPDC5):c.4649A>C (p.Tyr1550Ser)
|
|
|
NM_001242896.3(DEPDC5):c.4657A>G (p.Met1553Val)
|
|
|
NM_001242896.3(DEPDC5):c.4675C>T (p.Arg1559Cys)
|
|
|
NM_001242896.3(DEPDC5):c.4676G>A (p.Arg1559His)
|
|
|
NM_001242896.3(DEPDC5):c.4684G>A (p.Ala1562Thr)
|
rs373645855
|
|
NM_001242896.3(DEPDC5):c.4684G>T (p.Ala1562Ser)
|
rs373645855
|
|
NM_001242896.3(DEPDC5):c.4685C>T (p.Ala1562Val)
|
|
|
NM_001242896.3(DEPDC5):c.4692_4693delinsTTT (p.Asp1565fs)
|
rs1569255986
|
|
NM_001242896.3(DEPDC5):c.4700A>G (p.Lys1567Arg)
|
|
|
NM_001242896.3(DEPDC5):c.4700del (p.Lys1567fs)
|
|
|
NM_001242896.3(DEPDC5):c.470G>A (p.Ser157Asn)
|
|
|
NM_001242896.3(DEPDC5):c.4715T>A (p.Leu1572Gln)
|
rs1208729078
|
|
NM_001242896.3(DEPDC5):c.4729_4730delinsCT (p.Thr1577Leu)
|
rs2149449846
|
|
NM_001242896.3(DEPDC5):c.4737C>A (p.Phe1579Leu)
|
|
|
NM_001242896.3(DEPDC5):c.4737del (p.Cys1580fs)
|
rs2149449891
|
|
NM_001242896.3(DEPDC5):c.4738T>C (p.Cys1580Arg)
|
rs2093760699
|
|
NM_001242896.3(DEPDC5):c.4739G>A (p.Cys1580Tyr)
|
rs776213050
|
|
NM_001242896.3(DEPDC5):c.4739G>C (p.Cys1580Ser)
|
|
|
NM_001242896.3(DEPDC5):c.4747del (p.Arg1583fs)
|
|
|
NM_001242896.3(DEPDC5):c.4748_4788delinsC (p.Arg1583fs)
|
rs2093761109
|
|
NM_001242896.3(DEPDC5):c.4749_4750insTT (p.Asp1584fs)
|
|
|
NM_001242896.3(DEPDC5):c.4762G>C (p.Val1588Leu)
|
rs2149450028
|
|
NM_001242896.3(DEPDC5):c.4763T>C (p.Val1588Ala)
|
|
|
NM_001242896.3(DEPDC5):c.4766C>T (p.Thr1589Met)
|
|
|
NM_001242896.3(DEPDC5):c.476A>G (p.Asp159Gly)
|
rs2148329131
|
|
NM_001242896.3(DEPDC5):c.4778G>T (p.Ser1593Ile)
|
rs1603019516
|
|
NM_001242896.3(DEPDC5):c.4779T>A (p.Ser1593Arg)
|
rs750919199
|
|
NM_001242896.3(DEPDC5):c.4793T>C (p.Met1598Thr)
|
rs1555943470
|
|
NM_001242896.3(DEPDC5):c.4808C>G (p.Pro1603Arg)
|
|
|
NM_001242896.3(DEPDC5):c.529A>G (p.Met177Val)
|
rs2148405162
|
|
NM_001242896.3(DEPDC5):c.533G>A (p.Ser178Asn)
|
|
|
NM_001242896.3(DEPDC5):c.534C>G (p.Ser178Arg)
|
|
|
NM_001242896.3(DEPDC5):c.534C>T (p.Ser178=)
|
|
|
NM_001242896.3(DEPDC5):c.542T>A (p.Met181Lys)
|
rs1060501486
|
|
NM_001242896.3(DEPDC5):c.543G>A (p.Met181Ile)
|
rs887378031
|
|
NM_001242896.3(DEPDC5):c.547G>A (p.Asp183Asn)
|
rs368985382
|
|
NM_001242896.3(DEPDC5):c.562+6G>A
|
|
|
NM_001242896.3(DEPDC5):c.563-3C>G
|
rs2084816247
|
|
NM_001242896.3(DEPDC5):c.566A>T (p.Asp189Val)
|
rs2084816540
|
|
NM_001242896.3(DEPDC5):c.574T>C (p.Phe192Leu)
|
|
|
NM_001242896.3(DEPDC5):c.58+6T>C
|
rs2075195526
|
|
NM_001242896.3(DEPDC5):c.59-3C>G
|
rs1064795947
|
|
NM_001242896.3(DEPDC5):c.59-3C>T
|
|
|
NM_001242896.3(DEPDC5):c.599T>C (p.Leu200Pro)
|
rs2148415428
|
|
NM_001242896.3(DEPDC5):c.602C>A (p.Ala201Asp)
|
rs1569519698
|
|
NM_001242896.3(DEPDC5):c.610T>C (p.Phe204Leu)
|
rs2084819937
|
|
NM_001242896.3(DEPDC5):c.613A>T (p.Thr205Ser)
|
|
|
NM_001242896.3(DEPDC5):c.624+5A>G
|
|
|
NM_001242896.3(DEPDC5):c.625-7T>G
|
rs1276867202
|
|
NM_001242896.3(DEPDC5):c.664T>C (p.Ser222Pro)
|
rs2148505001
|
|
NM_001242896.3(DEPDC5):c.674T>G (p.Phe225Cys)
|
|
|
NM_001242896.3(DEPDC5):c.675C>G (p.Phe225Leu)
|
|
|
NM_001242896.3(DEPDC5):c.680A>T (p.Asp227Val)
|
rs2148505198
|
|
NM_001242896.3(DEPDC5):c.689C>T (p.Ser230Phe)
|
|
|
NM_001242896.3(DEPDC5):c.691G>T (p.Val231Phe)
|
|
|
NM_001242896.3(DEPDC5):c.692T>C (p.Val231Ala)
|
rs2148505288
|
|
NM_001242896.3(DEPDC5):c.694+3_694+6del
|
rs1351154360
|
|
NM_001242896.3(DEPDC5):c.694+5G>A
|
rs1060501485
|
|
NM_001242896.3(DEPDC5):c.695-3C>G
|
|
|
NM_001242896.3(DEPDC5):c.695A>G (p.Asp232Gly)
|
|
|
NM_001242896.3(DEPDC5):c.709A>G (p.Ile237Val)
|
|
|
NM_001242896.3(DEPDC5):c.716G>A (p.Arg239Gln)
|
rs371511498
|
|
NM_001242896.3(DEPDC5):c.716G>C (p.Arg239Pro)
|
|
|
NM_001242896.3(DEPDC5):c.718G>A (p.Ala240Thr)
|
rs761256495
|
|
NM_001242896.3(DEPDC5):c.719C>T (p.Ala240Val)
|
rs1335967704
|
|
NM_001242896.3(DEPDC5):c.728G>T (p.Arg243Leu)
|
rs368129922
|
|
NM_001242896.3(DEPDC5):c.750C>G (p.Phe250Leu)
|
|
|
NM_001242896.3(DEPDC5):c.752A>G (p.Tyr251Cys)
|
rs1064796158
|
|
NM_001242896.3(DEPDC5):c.757G>T (p.Asp253Tyr)
|
|
|
NM_001242896.3(DEPDC5):c.793G>A (p.Glu265Lys)
|
|
|
NM_001242896.3(DEPDC5):c.80C>T (p.Pro27Leu)
|
rs1485949754
|
|
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu)
|
rs187334123
|
|
NM_001242896.3(DEPDC5):c.829C>A (p.Leu277Ile)
|
|
|
NM_001242896.3(DEPDC5):c.829C>T (p.Leu277Phe)
|
rs778656662
|
|
NM_001242896.3(DEPDC5):c.82A>G (p.Lys28Glu)
|
rs2082124844
|
|
NM_001242896.3(DEPDC5):c.83A>G (p.Lys28Arg)
|
|
|
NM_001242896.3(DEPDC5):c.842A>G (p.Tyr281Cys)
|
|
|
NM_001242896.3(DEPDC5):c.847G>A (p.Val283Met)
|
rs1569523754
|
|
NM_001242896.3(DEPDC5):c.847G>C (p.Val283Leu)
|
rs1569523754
|
|
NM_001242896.3(DEPDC5):c.856C>G (p.Arg286Gly)
|
|
|
NM_001242896.3(DEPDC5):c.857G>A (p.Arg286Gln)
|
|
|
NM_001242896.3(DEPDC5):c.859C>G (p.Leu287Val)
|
|
|
NM_001242896.3(DEPDC5):c.869C>T (p.Ala290Val)
|
rs2148575481
|
|
NM_001242896.3(DEPDC5):c.870A>G (p.Ala290=)
|
rs2148575505
|
|
NM_001242896.3(DEPDC5):c.872-3C>T
|
rs2086521058
|
|
NM_001242896.3(DEPDC5):c.880C>T (p.Pro294Ser)
|
rs2086522074
|
|
NM_001242896.3(DEPDC5):c.881C>T (p.Pro294Leu)
|
|
|
NM_001242896.3(DEPDC5):c.884_886del (p.Gln295_Gly296delinsArg)
|
rs2148587515
|
|
NM_001242896.3(DEPDC5):c.890A>G (p.Asp297Gly)
|
|
|
NM_001242896.3(DEPDC5):c.898A>G (p.Thr300Ala)
|
|
|
NM_001242896.3(DEPDC5):c.899C>T (p.Thr300Ile)
|
|
|
NM_001242896.3(DEPDC5):c.8CAA[1] (p.Thr4del)
|
rs2075190242
|
|
NM_001242896.3(DEPDC5):c.907C>G (p.Gln303Glu)
|
rs1601935420
|
|
NM_001242896.3(DEPDC5):c.908A>C (p.Gln303Pro)
|
rs765384973
|
|
NM_001242896.3(DEPDC5):c.911G>A (p.Gly304Glu)
|
|
|
NM_001242896.3(DEPDC5):c.914A>G (p.Asn305Ser)
|
|
|
NM_001242896.3(DEPDC5):c.916T>G (p.Tyr306Asp)
|
|
|
NM_001242896.3(DEPDC5):c.917A>G (p.Tyr306Cys)
|
|
|
NM_001242896.3(DEPDC5):c.920T>G (p.Leu307Arg)
|
rs752537116
|
|
NM_001242896.3(DEPDC5):c.930C>G (p.Ile310Met)
|
|
|
NM_001242896.3(DEPDC5):c.938C>T (p.Ser313Leu)
|
rs2148587902
|
|
NM_001242896.3(DEPDC5):c.971G>A (p.Arg324His)
|
rs2087011135
|
|
NM_001242896.3(DEPDC5):c.974A>C (p.Asn325Thr)
|
|
|
NM_001242896.3(DEPDC5):c.974A>G (p.Asn325Ser)
|
rs2087011420
|
|
NM_001242896.3(DEPDC5):c.97A>G (p.Ile33Val)
|
rs368035159
|
|
NM_001242896.3(DEPDC5):c.994A>G (p.Met332Val)
|
rs763154977
|
|
NM_001271.4(CHD2):c.1003C>A (p.Leu335Ile)
|
rs369773756
|
|
NM_001271.4(CHD2):c.1015G>A (p.Glu339Lys)
|
|
|
NM_001271.4(CHD2):c.1039G>A (p.Glu347Lys)
|
|
|
NM_001271.4(CHD2):c.103A>G (p.Ser35Gly)
|
|
|
NM_001271.4(CHD2):c.1042A>G (p.Ile348Val)
|
|
|
NM_001271.4(CHD2):c.1045A>G (p.Lys349Glu)
|
|
|
NM_001271.4(CHD2):c.1052+4T>C
|
|
|
NM_001271.4(CHD2):c.1052+5A>G
|
|
|
NM_001271.4(CHD2):c.1091A>T (p.Asn364Ile)
|
rs143043614
|
|
NM_001271.4(CHD2):c.1135A>G (p.Ile379Val)
|
|
|
NM_001271.4(CHD2):c.1139T>C (p.Val380Ala)
|
rs1596397712
|
|
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu)
|
rs1060503519
|
|
NM_001271.4(CHD2):c.1177T>A (p.Leu393Met)
|
|
|
NM_001271.4(CHD2):c.1180G>T (p.Gly394Cys)
|
rs771650465
|
|
NM_001271.4(CHD2):c.1208G>A (p.Arg403Gln)
|
|
|
NM_001271.4(CHD2):c.1219C>A (p.Pro407Thr)
|
rs2141795454
|
|
NM_001271.4(CHD2):c.1225A>T (p.Asn409Tyr)
|
|
|
NM_001271.4(CHD2):c.1234G>A (p.Glu412Lys)
|
rs541056569
|
|
NM_001271.4(CHD2):c.1234_1235delinsAC (p.Glu412Thr)
|
rs2053463440
|
|
NM_001271.4(CHD2):c.1238A>G (p.Tyr413Cys)
|
|
|
NM_001271.4(CHD2):c.1244G>A (p.Cys415Tyr)
|
|
|
NM_001271.4(CHD2):c.1254G>A (p.Met418Ile)
|
|
|
NM_001271.4(CHD2):c.1282G>C (p.Glu428Gln)
|
|
|
NM_001271.4(CHD2):c.1291G>C (p.Ala431Pro)
|
|
|
NM_001271.4(CHD2):c.1318T>C (p.Cys440Arg)
|
rs763507530
|
|
NM_001271.4(CHD2):c.1319G>T (p.Cys440Phe)
|
rs2053464128
|
|
NM_001271.4(CHD2):c.1327A>G (p.Ser443Gly)
|
rs2141795625
|
|
NM_001271.4(CHD2):c.1328G>C (p.Ser443Thr)
|
|
|
NM_001271.4(CHD2):c.1334A>G (p.His445Arg)
|
rs750053293
|
|
NM_001271.4(CHD2):c.1357A>G (p.Ile453Val)
|
rs144393676
|
|
NM_001271.4(CHD2):c.1372T>C (p.Cys458Arg)
|
rs1769067223
|
|
NM_001271.4(CHD2):c.1377+4T>C
|
rs2053464708
|
|
NM_001271.4(CHD2):c.1377+6G>A
|
rs2053464769
|
|
NM_001271.4(CHD2):c.140G>A (p.Ser47Asn)
|
|
|
NM_001271.4(CHD2):c.1436G>C (p.Gly479Ala)
|
|
|
NM_001271.4(CHD2):c.1502+4G>A
|
|
|
NM_001271.4(CHD2):c.1508A>C (p.Asn503Thr)
|
|
|
NM_001271.4(CHD2):c.151A>G (p.Ser51Gly)
|
|
|
NM_001271.4(CHD2):c.1535G>C (p.Gly512Ala)
|
rs2053579153
|
|
NM_001271.4(CHD2):c.154G>A (p.Glu52Lys)
|
|
|
NM_001271.4(CHD2):c.1558A>G (p.Ile520Val)
|
rs773793367
|
|
NM_001271.4(CHD2):c.1599T>C (p.Tyr533=)
|
|
|
NM_001271.4(CHD2):c.1603C>T (p.Pro535Ser)
|
|
|
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg)
|
rs1567139944
|
|
NM_001271.4(CHD2):c.1618G>A (p.Val540Ile)
|
rs1368222485
|
|
NM_001271.4(CHD2):c.1645C>A (p.Gln549Lys)
|
rs1392359380
|
|
NM_001271.4(CHD2):c.1666G>A (p.Ala556Thr)
|
rs2053579900
|
|
NM_001271.4(CHD2):c.1670C>T (p.Pro557Leu)
|
rs1060503520
|
|
NM_001271.4(CHD2):c.1702C>G (p.Leu568Val)
|
|
|
NM_001271.4(CHD2):c.1720-3T>C
|
rs759231634
|
|
NM_001271.4(CHD2):c.1720A>C (p.Ile574Leu)
|
rs2141814804
|
|
NM_001271.4(CHD2):c.1729T>C (p.Tyr577His)
|
rs2141814817
|
|
NM_001271.4(CHD2):c.1729T>G (p.Tyr577Asp)
|
rs2141814817
|
|
NM_001271.4(CHD2):c.1737G>C (p.Trp579Cys)
|
rs2141814824
|
|
NM_001271.4(CHD2):c.1738A>C (p.Ile580Leu)
|
|
|
NM_001271.4(CHD2):c.1745C>G (p.Ser582Cys)
|
rs2053606798
|
|
NM_001271.4(CHD2):c.1753A>G (p.Lys585Glu)
|
rs2141814847
|
|
NM_001271.4(CHD2):c.1757G>A (p.Arg586Lys)
|
rs2141814855
|
|
NM_001271.4(CHD2):c.1774C>T (p.Leu592Phe)
|
rs2141814881
|
|
NM_001271.4(CHD2):c.1778T>G (p.Ile593Arg)
|
rs2053607137
|
|
NM_001271.4(CHD2):c.1785A>G (p.Thr595=)
|
rs1192477751
|
|
NM_001271.4(CHD2):c.1811C>A (p.Thr604Asn)
|
|
|
NM_001271.4(CHD2):c.1838T>C (p.Phe613Ser)
|
|
|
NM_001271.4(CHD2):c.1874A>G (p.Asp625Gly)
|
rs2141816546
|
|
NM_001271.4(CHD2):c.1916A>G (p.Asn639Ser)
|
|
|
NM_001271.4(CHD2):c.1943C>G (p.Pro648Arg)
|
|
|
NM_001271.4(CHD2):c.194A>C (p.Glu65Ala)
|
rs2053018824
|
|
NM_001271.4(CHD2):c.1955C>A (p.Ser652Tyr)
|
|
|
NM_001271.4(CHD2):c.1961A>G (p.Lys654Arg)
|
|
|
NM_001271.4(CHD2):c.1978C>A (p.Leu660Met)
|
rs2141816626
|
|
NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser)
|
rs768407397
|
|
NM_001271.4(CHD2):c.2000+4A>G
|
|
|
NM_001271.4(CHD2):c.2001G>A (p.Lys667=)
|
rs2053779282
|
|
NM_001271.4(CHD2):c.2005G>C (p.Glu669Gln)
|
|
|
NM_001271.4(CHD2):c.2010T>G (p.Phe670Leu)
|
rs1165969857
|
|
NM_001271.4(CHD2):c.2035G>A (p.Gly679Arg)
|
rs867188529
|
|
NM_001271.4(CHD2):c.2045G>T (p.Arg682Ile)
|
|
|
NM_001271.4(CHD2):c.204C>G (p.Ser68Arg)
|
rs150919373
|
|
NM_001271.4(CHD2):c.2062A>C (p.Ser688Arg)
|
|
|
NM_001271.4(CHD2):c.2076G>A (p.Val692=)
|
|
|
NM_001271.4(CHD2):c.207A>T (p.Glu69Asp)
|
|
|
NM_001271.4(CHD2):c.2092C>T (p.Leu698Phe)
|
rs2053779861
|
|
NM_001271.4(CHD2):c.20A>G (p.Lys7Arg)
|
rs2052524601
|
|
NM_001271.4(CHD2):c.2125C>T (p.Leu709Phe)
|
rs2141830674
|
|
NM_001271.4(CHD2):c.214G>T (p.Gly72Cys)
|
|
|
NM_001271.4(CHD2):c.2175G>C (p.Gln725His)
|
|
|
NM_001271.4(CHD2):c.2180A>G (p.Gln727Arg)
|
rs2141830697
|
|
NM_001271.4(CHD2):c.2214G>C (p.Lys738Asn)
|
|
|
NM_001271.4(CHD2):c.2257A>G (p.Asn753Asp)
|
rs2141835724
|
|
NM_001271.4(CHD2):c.2279A>C (p.Lys760Thr)
|
rs2141835731
|
|
NM_001271.4(CHD2):c.2292C>A (p.His764Gln)
|
rs2141835739
|
|
NM_001271.4(CHD2):c.230C>T (p.Pro77Leu)
|
|
|
NM_001271.4(CHD2):c.2339A>C (p.Gln780Pro)
|
rs2053846412
|
|
NM_001271.4(CHD2):c.2353-16T>C
|
|
|
NM_001271.4(CHD2):c.2353-3C>T
|
rs558236184
|
|
NM_001271.4(CHD2):c.235C>G (p.Leu79Val)
|
rs1555437429
|
|
NM_001271.4(CHD2):c.2363G>A (p.Arg788Lys)
|
rs2141836184
|
|
NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)
|
|
|
NM_001271.4(CHD2):c.2375A>G (p.Lys792Arg)
|
|
|
NM_001271.4(CHD2):c.2377T>G (p.Leu793Val)
|
|
|
NM_001271.4(CHD2):c.239C>A (p.Pro80Gln)
|
|
|
NM_001271.4(CHD2):c.2402C>A (p.Thr801Lys)
|
rs372801085
|
|
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg)
|
rs372801085
|
|
NM_001271.4(CHD2):c.2411G>A (p.Arg804Gln)
|
|
|
NM_001271.4(CHD2):c.2434A>G (p.Ile812Val)
|
rs2141836222
|
|
NM_001271.4(CHD2):c.2438T>G (p.Phe813Cys)
|
rs2053851669
|
|
NM_001271.4(CHD2):c.2464A>G (p.Ile822Val)
|
|
|
NM_001271.4(CHD2):c.247A>C (p.Lys83Gln)
|
|
|
NM_001271.4(CHD2):c.2497C>T (p.Pro833Ser)
|
rs2053851835
|
|
NM_001271.4(CHD2):c.2510T>C (p.Leu837Pro)
|
rs2141839131
|
|
NM_001271.4(CHD2):c.2555A>G (p.His852Arg)
|
rs2053887900
|
|
NM_001271.4(CHD2):c.2561A>G (p.Asn854Ser)
|
|
|
NM_001271.4(CHD2):c.2567A>G (p.Asp856Gly)
|
rs864309541
|
|
NM_001271.4(CHD2):c.2583C>G (p.Phe861Leu)
|
rs2141843170
|
|
NM_001271.4(CHD2):c.2595C>T (p.Leu865=)
|
|
|
NM_001271.4(CHD2):c.2597C>T (p.Ser866Leu)
|
rs1085308000
|
|
NM_001271.4(CHD2):c.2598G>T (p.Ser866=)
|
|
|
NM_001271.4(CHD2):c.2617G>A (p.Gly873Arg)
|
|
|
NM_001271.4(CHD2):c.2667G>C (p.Trp889Cys)
|
rs2141843220
|
|
NM_001271.4(CHD2):c.2671C>T (p.Pro891Ser)
|
|
|
NM_001271.4(CHD2):c.2701G>A (p.Ala901Thr)
|
rs1596427988
|
|
NM_001271.4(CHD2):c.2702C>T (p.Ala901Val)
|
rs2141843246
|
|
NM_001271.4(CHD2):c.2705A>G (p.His902Arg)
|
rs2053935622
|
|
NM_001271.4(CHD2):c.2708G>T (p.Arg903Ile)
|
rs2141843253
|
|
NM_001271.4(CHD2):c.2716C>G (p.Gln906Glu)
|
|
|
NM_001271.4(CHD2):c.2727+5G>T
|
|
|
NM_001271.4(CHD2):c.2749A>G (p.Thr917Ala)
|
rs766507274
|
|
NM_001271.4(CHD2):c.274C>T (p.Arg92Trp)
|
|
|
NM_001271.4(CHD2):c.2793G>T (p.Lys931Asn)
|
|
|
NM_001271.4(CHD2):c.2810A>C (p.His937Pro)
|
rs2053946385
|
|
NM_001271.4(CHD2):c.2825G>C (p.Arg942Pro)
|
rs2141844247
|
|
NM_001271.4(CHD2):c.2827A>G (p.Met943Val)
|
|
|
NM_001271.4(CHD2):c.2856A>T (p.Glu952Asp)
|
rs1388780876
|
|
NM_001271.4(CHD2):c.2858A>G (p.Asn953Ser)
|
rs2141844278
|
|
NM_001271.4(CHD2):c.2869A>G (p.Arg957Gly)
|
|
|
NM_001271.4(CHD2):c.2871_2876+15dup
|
|
|
NM_001271.4(CHD2):c.2877C>T (p.Asn959=)
|
|
|
NM_001271.4(CHD2):c.2884C>A (p.Pro962Thr)
|
|
|
NM_001271.4(CHD2):c.2894A>T (p.Lys965Ile)
|
rs2141846369
|
|
NM_001271.4(CHD2):c.2906C>T (p.Thr969Ile)
|
rs2053970198
|
|
NM_001271.4(CHD2):c.2945A>G (p.Glu982Gly)
|
|
|
NM_001271.4(CHD2):c.2968C>T (p.Pro990Ser)
|
|
|
NM_001271.4(CHD2):c.2973G>A (p.Gln991=)
|
rs903186613
|
|
NM_001271.4(CHD2):c.2974-3T>C
|
rs778558788
|
|
NM_001271.4(CHD2):c.2977A>G (p.Met993Val)
|
rs2053978485
|
|
NM_001271.4(CHD2):c.3025G>T (p.Val1009Leu)
|
rs1064794528
|
|
NM_001271.4(CHD2):c.3031A>G (p.Thr1011Ala)
|
rs2053978897
|
|
NM_001271.4(CHD2):c.3096A>C (p.Glu1032Asp)
|
|
|
NM_001271.4(CHD2):c.3096AGA[1] (p.Glu1034del)
|
rs1439253837
|
|
NM_001271.4(CHD2):c.30GGA[1] (p.Glu11del)
|
|
|
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
|
|
|
NM_001271.4(CHD2):c.3113G>A (p.Arg1038His)
|
|
|
NM_001271.4(CHD2):c.3150A>C (p.Glu1050Asp)
|
rs1261637857
|
|
NM_001271.4(CHD2):c.3151C>A (p.Gln1051Lys)
|
|
|
NM_001271.4(CHD2):c.3158A>T (p.Lys1053Ile)
|
|
|
NM_001271.4(CHD2):c.3237+5T>G
|
rs1015228436
|
|
NM_001271.4(CHD2):c.3238-5C>G
|
rs1555443468
|
|
NM_001271.4(CHD2):c.3247A>G (p.Asn1083Asp)
|
|
|
NM_001271.4(CHD2):c.3264C>A (p.Asp1088Glu)
|
|
|
NM_001271.4(CHD2):c.3275A>G (p.Lys1092Arg)
|
|
|
NM_001271.4(CHD2):c.3278G>A (p.Arg1093Lys)
|
rs2054031377
|
|
NM_001271.4(CHD2):c.3338A>G (p.Lys1113Arg)
|
|
|
NM_001271.4(CHD2):c.3366T>A (p.Ser1122Arg)
|
|
|
NM_001271.4(CHD2):c.3370C>T (p.Arg1124Trp)
|
rs1454060267
|
|
NM_001271.4(CHD2):c.3378C>A (p.Asp1126Glu)
|
|
|
NM_001271.4(CHD2):c.3382G>A (p.Val1128Met)
|
rs776091604
|
|
NM_001271.4(CHD2):c.338A>G (p.Asn113Ser)
|
|
|
NM_001271.4(CHD2):c.3392T>A (p.Phe1131Tyr)
|
rs2141852043
|
|
NM_001271.4(CHD2):c.3401C>G (p.Ala1134Gly)
|
|
|
NM_001271.4(CHD2):c.341G>T (p.Arg114Leu)
|
|
|
NM_001271.4(CHD2):c.3422A>G (p.Lys1141Arg)
|
rs1471418780
|
|
NM_001271.4(CHD2):c.3455+4_3455+5del
|
rs2054119330
|
|
NM_001271.4(CHD2):c.3456-3C>T
|
|
|
NM_001271.4(CHD2):c.3472C>T (p.Arg1158Cys)
|
|
|
NM_001271.4(CHD2):c.3473G>A (p.Arg1158His)
|
rs2054139096
|
|
NM_001271.4(CHD2):c.3476A>T (p.Asp1159Val)
|
rs2141861610
|
|
NM_001271.4(CHD2):c.3484C>G (p.Leu1162Val)
|
rs2141861616
|
|
NM_001271.4(CHD2):c.3487G>C (p.Val1163Leu)
|
rs1555444210
|
|
NM_001271.4(CHD2):c.3497C>T (p.Ser1166Leu)
|
rs1064794438
|
|
NM_001271.4(CHD2):c.3515G>A (p.Arg1172His)
|
rs2054139326
|
|
NM_001271.4(CHD2):c.3526C>A (p.Leu1176Met)
|
rs1555444216
|
|
NM_001271.4(CHD2):c.3565G>A (p.Glu1189Lys)
|
|
|
NM_001271.4(CHD2):c.3584A>G (p.Asn1195Ser)
|
|
|
NM_001271.4(CHD2):c.3587C>G (p.Ala1196Gly)
|
|
|
NM_001271.4(CHD2):c.3589A>G (p.Ser1197Gly)
|
|
|
NM_001271.4(CHD2):c.3592G>C (p.Glu1198Gln)
|
rs757981280
|
|
NM_001271.4(CHD2):c.3595+6C>T
|
|
|
NM_001271.4(CHD2):c.359C>T (p.Ser120Leu)
|
|
|
NM_001271.4(CHD2):c.3602G>A (p.Gly1201Glu)
|
rs2054196855
|
|
NM_001271.4(CHD2):c.3628A>G (p.Ile1210Val)
|
|
|
NM_001271.4(CHD2):c.3629T>G (p.Ile1210Ser)
|
rs2141867277
|
|
NM_001271.4(CHD2):c.362G>T (p.Arg121Leu)
|
rs1064795319
|
|
NM_001271.4(CHD2):c.3646C>A (p.Gln1216Lys)
|
|
|
NM_001271.4(CHD2):c.3646C>G (p.Gln1216Glu)
|
|
|
NM_001271.4(CHD2):c.3662C>T (p.Ser1221Phe)
|
rs2054197204
|
|
NM_001271.4(CHD2):c.366T>G (p.Phe122Leu)
|
|
|
NM_001271.4(CHD2):c.3677A>C (p.Glu1226Ala)
|
|
|
NM_001271.4(CHD2):c.3679G>A (p.Glu1227Lys)
|
rs150583797
|
|
NM_001271.4(CHD2):c.3691A>G (p.Met1231Val)
|
rs1408881628
|
|
NM_001271.4(CHD2):c.3697C>T (p.His1233Tyr)
|
rs2054197453
|
|
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn)
|
|
|
NM_001271.4(CHD2):c.370A>G (p.Ile124Val)
|
|
|
NM_001271.4(CHD2):c.371T>C (p.Ile124Thr)
|
|
|
NM_001271.4(CHD2):c.3727A>G (p.Lys1243Glu)
|
|
|
NM_001271.4(CHD2):c.3733A>C (p.Lys1245Gln)
|
rs2054197954
|
|
NM_001271.4(CHD2):c.3734+3G>T
|
|
|
NM_001271.4(CHD2):c.3735-6C>G
|
rs1235843668
|
|
NM_001271.4(CHD2):c.3746C>T (p.Thr1249Ile)
|
|
|
NM_001271.4(CHD2):c.374A>C (p.Lys125Thr)
|
|
|
NM_001271.4(CHD2):c.3751C>T (p.Arg1251Cys)
|
rs2054200484
|
|
NM_001271.4(CHD2):c.3752G>A (p.Arg1251His)
|
|
|
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys)
|
rs2054200789
|
|
NM_001271.4(CHD2):c.3817A>G (p.Ile1273Val)
|
|
|
NM_001271.4(CHD2):c.382-6C>A
|
rs756487303
|
|
NM_001271.4(CHD2):c.3821A>T (p.Tyr1274Phe)
|
|
|
NM_001271.4(CHD2):c.3829G>A (p.Gly1277Ser)
|
rs1596447174
|
|
NM_001271.4(CHD2):c.3833A>G (p.Tyr1278Cys)
|
rs1596447179
|
|
NM_001271.4(CHD2):c.3857C>T (p.Thr1286Ile)
|
|
|
NM_001271.4(CHD2):c.3862C>T (p.Pro1288Ser)
|
rs2054201108
|
|
NM_001271.4(CHD2):c.3865G>C (p.Glu1289Gln)
|
|
|
NM_001271.4(CHD2):c.3867G>C (p.Glu1289Asp)
|
rs1358081390
|
|
NM_001271.4(CHD2):c.3876A>T (p.Leu1292Phe)
|
|
|
NM_001271.4(CHD2):c.3885+4A>G
|
rs1555444612
|
|
NM_001271.4(CHD2):c.3886-18C>T
|
|
|
NM_001271.4(CHD2):c.3902C>T (p.Thr1301Ile)
|
|
|
NM_001271.4(CHD2):c.3906T>A (p.Asp1302Glu)
|
rs2141868872
|
|
NM_001271.4(CHD2):c.3913C>G (p.Pro1305Ala)
|
|
|
NM_001271.4(CHD2):c.3927G>T (p.Gln1309His)
|
rs938005096
|
|
NM_001271.4(CHD2):c.392G>A (p.Gly131Glu)
|
|
|
NM_001271.4(CHD2):c.3938G>T (p.Arg1313Leu)
|
|
|
NM_001271.4(CHD2):c.3941C>T (p.Ala1314Val)
|
|
|
NM_001271.4(CHD2):c.3950T>C (p.Leu1317Ser)
|
rs2141868900
|
|
NM_001271.4(CHD2):c.3957G>T (p.Lys1319Asn)
|
rs2141868905
|
|
NM_001271.4(CHD2):c.3964A>G (p.Arg1322Gly)
|
rs1555444712
|
|
NM_001271.4(CHD2):c.3979AAG[1] (p.Lys1328del)
|
rs1410645881
|
|
NM_001271.4(CHD2):c.3981G>T (p.Lys1327Asn)
|
|
|
NM_001271.4(CHD2):c.3997G>A (p.Gly1333Ser)
|
|
|
NM_001271.4(CHD2):c.4008+5G>A
|
rs2141868973
|
|
NM_001271.4(CHD2):c.4009-3C>T
|
|
|
NM_001271.4(CHD2):c.4009G>A (p.Ala1337Thr)
|
rs776072657
|
|
NM_001271.4(CHD2):c.4024C>T (p.Arg1342Trp)
|
|
|
NM_001271.4(CHD2):c.4025G>T (p.Arg1342Leu)
|
rs143503275
|
|
NM_001271.4(CHD2):c.4025_4026delinsTA (p.Arg1342Leu)
|
rs2141871683
|
|
NM_001271.4(CHD2):c.4033C>T (p.Arg1345Trp)
|
rs1273391509
|
|
NM_001271.4(CHD2):c.4051A>G (p.Lys1351Glu)
|
|
|
NM_001271.4(CHD2):c.4070A>G (p.Glu1357Gly)
|
rs2141871721
|
|
NM_001271.4(CHD2):c.4073A>C (p.Glu1358Ala)
|
rs2141871726
|
|
NM_001271.4(CHD2):c.4079G>A (p.Gly1360Glu)
|
rs1567159136
|
|
NM_001271.4(CHD2):c.4084G>C (p.Glu1362Gln)
|
|
|
NM_001271.4(CHD2):c.4096C>T (p.Pro1366Ser)
|
|
|
NM_001271.4(CHD2):c.4097C>G (p.Pro1366Arg)
|
|
|
NM_001271.4(CHD2):c.40T>G (p.Ser14Ala)
|
rs2052525047
|
|
NM_001271.4(CHD2):c.4108G>A (p.Asp1370Asn)
|
rs2054242398
|
|
NM_001271.4(CHD2):c.4111A>G (p.Asn1371Asp)
|
rs745311012
|
|
NM_001271.4(CHD2):c.4120G>A (p.Glu1374Lys)
|
|
|
NM_001271.4(CHD2):c.4133T>G (p.Val1378Gly)
|
rs2054242633
|
|
NM_001271.4(CHD2):c.4137+11G>C
|
|
|
NM_001271.4(CHD2):c.4142A>G (p.Asp1381Gly)
|
rs760717598
|
|
NM_001271.4(CHD2):c.4145G>T (p.Gly1382Val)
|
|
|
NM_001271.4(CHD2):c.4162A>G (p.Met1388Val)
|
|
|
NM_001271.4(CHD2):c.4165A>G (p.Lys1389Glu)
|
|
|
NM_001271.4(CHD2):c.4176GAA[2] (p.Lys1395del)
|
|
|
NM_001271.4(CHD2):c.4189A>T (p.Asn1397Tyr)
|
|
|
NM_001271.4(CHD2):c.4207A>C (p.Lys1403Gln)
|
|
|
NM_001271.4(CHD2):c.4212A>T (p.Gln1404His)
|
|
|
NM_001271.4(CHD2):c.4217G>T (p.Ser1406Ile)
|
rs2054266595
|
|
NM_001271.4(CHD2):c.4219_4220delinsAT (p.Ser1407Ile)
|
rs1567159959
|
|
NM_001271.4(CHD2):c.4220C>A (p.Ser1407Tyr)
|
rs780455269
|
|
NM_001271.4(CHD2):c.4228G>A (p.Asp1410Asn)
|
rs775901148
|
|
NM_001271.4(CHD2):c.4235A>G (p.Glu1412Gly)
|
rs1064795470
|
|
NM_001271.4(CHD2):c.4236A>C (p.Glu1412Asp)
|
rs747843766
|
|
NM_001271.4(CHD2):c.4238G>A (p.Gly1413Glu)
|
|
|
NM_001271.4(CHD2):c.4258T>G (p.Ser1420Ala)
|
rs773012231
|
|
NM_001271.4(CHD2):c.4259C>T (p.Ser1420Leu)
|
|
|
NM_001271.4(CHD2):c.4261A>G (p.Lys1421Glu)
|
|
|
NM_001271.4(CHD2):c.4278+5T>A
|
rs202174434
|
|
NM_001271.4(CHD2):c.4279C>G (p.Pro1427Ala)
|
|
|
NM_001271.4(CHD2):c.4288G>C (p.Gly1430Arg)
|
rs2054297469
|
|
NM_001271.4(CHD2):c.4289G>T (p.Gly1430Val)
|
|
|
NM_001271.4(CHD2):c.428G>A (p.Arg143Lys)
|
rs2053117542
|
|
NM_001271.4(CHD2):c.4304C>T (p.Ser1435Leu)
|
|
|
NM_001271.4(CHD2):c.4306A>G (p.Ser1436Gly)
|
rs889423529
|
|
NM_001271.4(CHD2):c.4310A>C (p.Lys1437Thr)
|
rs1308086750
|
|
NM_001271.4(CHD2):c.4319G>A (p.Arg1440Gln)
|
|
|
NM_001271.4(CHD2):c.4319G>C (p.Arg1440Pro)
|
|
|
NM_001271.4(CHD2):c.4343C>T (p.Thr1448Ile)
|
rs2141876540
|
|
NM_001271.4(CHD2):c.4413+3A>G
|
rs2054298217
|
|
NM_001271.4(CHD2):c.4443G>C (p.Lys1481Asn)
|
|
|
NM_001271.4(CHD2):c.4450A>G (p.Lys1484Glu)
|
|
|
NM_001271.4(CHD2):c.446A>G (p.Glu149Gly)
|
|
|
NM_001271.4(CHD2):c.4489G>A (p.Glu1497Lys)
|
|
|
NM_001271.4(CHD2):c.44T>C (p.Leu15Pro)
|
rs1060503522
|
|
NM_001271.4(CHD2):c.44T>G (p.Leu15Arg)
|
|
|
NM_001271.4(CHD2):c.4507C>T (p.Arg1503Trp)
|
rs764680752
|
|
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser)
|
rs2141881607
|
|
NM_001271.4(CHD2):c.4513T>C (p.Cys1505Arg)
|
|
|
NM_001271.4(CHD2):c.4546T>A (p.Cys1516Ser)
|
|
|
NM_001271.4(CHD2):c.4555G>A (p.Ala1519Thr)
|
rs1183987736
|
|
NM_001271.4(CHD2):c.4567C>G (p.Gln1523Glu)
|
rs372786805
|
|
NM_001271.4(CHD2):c.4573C>G (p.His1525Asp)
|
rs2141881675
|
|
NM_001271.4(CHD2):c.4574A>G (p.His1525Arg)
|
rs2141881676
|
|
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu)
|
rs755510106
|
|
NM_001271.4(CHD2):c.4592+3A>G
|
|
|
NM_001271.4(CHD2):c.4592+4A>G
|
rs1450865656
|
|
NM_001271.4(CHD2):c.4592+5C>T
|
|
|
NM_001271.4(CHD2):c.4598T>G (p.Leu1533Arg)
|
rs2054404153
|
|
NM_001271.4(CHD2):c.4612T>G (p.Ser1538Ala)
|
rs2141885429
|
|
NM_001271.4(CHD2):c.4622C>G (p.Thr1541Arg)
|
rs2141885433
|
|
NM_001271.4(CHD2):c.4622C>T (p.Thr1541Ile)
|
rs2141885433
|
|
NM_001271.4(CHD2):c.463C>A (p.Pro155Thr)
|
|
|
NM_001271.4(CHD2):c.4646A>G (p.His1549Arg)
|
rs1428758251
|
|
NM_001271.4(CHD2):c.4663G>A (p.Ala1555Thr)
|
rs2054404552
|
|
NM_001271.4(CHD2):c.4666C>T (p.His1556Tyr)
|
|
|
NM_001271.4(CHD2):c.4667A>G (p.His1556Arg)
|
|
|
NM_001271.4(CHD2):c.4724G>T (p.Gly1575Val)
|
|
|
NM_001271.4(CHD2):c.4745A>G (p.Glu1582Gly)
|
|
|
NM_001271.4(CHD2):c.4746G>C (p.Glu1582Asp)
|
rs2141888193
|
|
NM_001271.4(CHD2):c.4748C>T (p.Ala1583Val)
|
|
|
NM_001271.4(CHD2):c.4763G>A (p.Arg1588Gln)
|
|
|
NM_001271.4(CHD2):c.4784C>T (p.Ser1595Phe)
|
|
|
NM_001271.4(CHD2):c.4787A>G (p.His1596Arg)
|
|
|
NM_001271.4(CHD2):c.4789A>G (p.Thr1597Ala)
|
rs1596458216
|
|
NM_001271.4(CHD2):c.4799A>G (p.Asn1600Ser)
|
|
|
NM_001271.4(CHD2):c.479A>G (p.Gln160Arg)
|
|
|
NM_001271.4(CHD2):c.481G>A (p.Glu161Lys)
|
rs1555438837
|
|
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His)
|
rs1427359303
|
|
NM_001271.4(CHD2):c.4857C>A (p.His1619Gln)
|
|
|
NM_001271.4(CHD2):c.4859C>G (p.Pro1620Arg)
|
|
|
NM_001271.4(CHD2):c.4873A>G (p.Asn1625Asp)
|
|
|
NM_001271.4(CHD2):c.4876C>T (p.His1626Tyr)
|
|
|
NM_001271.4(CHD2):c.488G>A (p.Gly163Asp)
|
|
|
NM_001271.4(CHD2):c.4897del (p.Ser1633fs)
|
rs2054438416
|
|
NM_001271.4(CHD2):c.4898G>A (p.Ser1633Asn)
|
rs2054438446
|
|
NM_001271.4(CHD2):c.4900_4906delinsT (p.Asn1634_Asp1636delinsTyr)
|
rs1555445701
|
|
NM_001271.4(CHD2):c.4905A>G (p.Ala1635=)
|
rs2054438546
|
|
NM_001271.4(CHD2):c.4907A>G (p.Asp1636Gly)
|
|
|
NM_001271.4(CHD2):c.4909C>G (p.Arg1637Gly)
|
|
|
NM_001271.4(CHD2):c.4917C>A (p.Asp1639Glu)
|
rs575697793
|
|
NM_001271.4(CHD2):c.4917C>G (p.Asp1639Glu)
|
|
|
NM_001271.4(CHD2):c.491C>G (p.Thr164Ser)
|
|
|
NM_001271.4(CHD2):c.4932A>T (p.Arg1644Ser)
|
rs1567166830
|
|
NM_001271.4(CHD2):c.4934A>G (p.Lys1645Arg)
|
rs751850387
|
|
NM_001271.4(CHD2):c.4940A>G (p.Asn1647Ser)
|
|
|
NM_001271.4(CHD2):c.4944TGG[2] (p.Gly1651del)
|
rs988975454
|
|
NM_001271.4(CHD2):c.4955A>G (p.Asn1652Ser)
|
|
|
NM_001271.4(CHD2):c.4956C>G (p.Asn1652Lys)
|
rs200979907
|
|
NM_001271.4(CHD2):c.4960A>T (p.Asn1654Tyr)
|
rs1437890850
|
|
NM_001271.4(CHD2):c.4966C>T (p.Pro1656Ser)
|
|
|
NM_001271.4(CHD2):c.4973G>A (p.Gly1658Glu)
|
|
|
NM_001271.4(CHD2):c.4987C>T (p.His1663Tyr)
|
rs746965265
|
|
NM_001271.4(CHD2):c.5002C>T (p.His1668Tyr)
|
rs142534503
|
|
NM_001271.4(CHD2):c.5017C>A (p.His1673Asn)
|
rs190569275
|
|
NM_001271.4(CHD2):c.5026G>A (p.Gly1676Arg)
|
rs2141895266
|
|
NM_001271.4(CHD2):c.503G>C (p.Ser168Thr)
|
|
|
NM_001271.4(CHD2):c.5041_5042dup (p.Met1681fs)
|
|
|
NM_001271.4(CHD2):c.5048C>T (p.Ala1683Val)
|
|
|
NM_001271.4(CHD2):c.5050C>G (p.His1684Asp)
|
|
|
NM_001271.4(CHD2):c.5051A>C (p.His1684Pro)
|
rs770784804
|
|
NM_001271.4(CHD2):c.5053C>T (p.Arg1685Cys)
|
|
|
NM_001271.4(CHD2):c.5057C>G (p.Ser1686Cys)
|
|
|
NM_001271.4(CHD2):c.5066A>G (p.Tyr1689Cys)
|
rs773408940
|
|
NM_001271.4(CHD2):c.5071C>T (p.Pro1691Ser)
|
rs754463281
|
|
NM_001271.4(CHD2):c.5072C>T (p.Pro1691Leu)
|
rs1227123179
|
|
NM_001271.4(CHD2):c.5075ACA[1] (p.Asn1693del)
|
rs762235508
|
|
NM_001271.4(CHD2):c.5110A>T (p.Ser1704Cys)
|
|
|
NM_001271.4(CHD2):c.5111G>A (p.Ser1704Asn)
|
rs2054516537
|
|
NM_001271.4(CHD2):c.5126A>T (p.His1709Leu)
|
rs1172858416
|
|
NM_001271.4(CHD2):c.5135A>T (p.His1712Leu)
|
|
|
NM_001271.4(CHD2):c.5136_5137del (p.His1712fs)
|
rs2054516766
|
|
NM_001271.4(CHD2):c.5148T>G (p.Tyr1716Ter)
|
rs773497328
|
|
NM_001271.4(CHD2):c.5154G>A (p.Arg1718=)
|
rs768370702
|
|
NM_001271.4(CHD2):c.5185G>A (p.Asp1729Asn)
|
|
|
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His)
|
rs1009699195
|
|
NM_001271.4(CHD2):c.5227C>T (p.Arg1743Ter)
|
rs1596463906
|
|
NM_001271.4(CHD2):c.522A>G (p.Lys174=)
|
rs573405690
|
|
NM_001271.4(CHD2):c.522A>T (p.Lys174Asn)
|
rs573405690
|
|
NM_001271.4(CHD2):c.5233T>C (p.Ser1745Pro)
|
|
|
NM_001271.4(CHD2):c.5233_5236del (p.Ser1745fs)
|
rs2054569319
|
|
NM_001271.4(CHD2):c.5240A>C (p.His1747Pro)
|
|
|
NM_001271.4(CHD2):c.5241C>G (p.His1747Gln)
|
|
|
NM_001271.4(CHD2):c.5243G>A (p.Arg1748His)
|
|
|
NM_001271.4(CHD2):c.5245C>A (p.Pro1749Thr)
|
|
|
NM_001271.4(CHD2):c.5248G>A (p.Ala1750Thr)
|
rs753595749
|
|
NM_001271.4(CHD2):c.5249C>T (p.Ala1750Val)
|
|
|
NM_001271.4(CHD2):c.5251A>G (p.Met1751Val)
|
|
|
NM_001271.4(CHD2):c.5260C>T (p.His1754Tyr)
|
rs1162600592
|
|
NM_001271.4(CHD2):c.5288G>A (p.Arg1763His)
|
|
|
NM_001271.4(CHD2):c.5288G>T (p.Arg1763Leu)
|
|
|
NM_001271.4(CHD2):c.5291C>T (p.Ser1764Phe)
|
|
|
NM_001271.4(CHD2):c.5294del (p.Phe1765fs)
|
|
|
NM_001271.4(CHD2):c.5297A>G (p.His1766Arg)
|
|
|
NM_001271.4(CHD2):c.5304T>A (p.Asp1768Glu)
|
rs1006801815
|
|
NM_001271.4(CHD2):c.5306A>T (p.Lys1769Ile)
|
|
|
NM_001271.4(CHD2):c.5324A>C (p.Gln1775Pro)
|
|
|
NM_001271.4(CHD2):c.5325G>T (p.Gln1775His)
|
|
|
NM_001271.4(CHD2):c.5326C>G (p.Pro1776Ala)
|
rs371006816
|
|
NM_001271.4(CHD2):c.5329C>G (p.Leu1777Val)
|
|
|
NM_001271.4(CHD2):c.532A>G (p.Arg178Gly)
|
rs1596390679
|
|
NM_001271.4(CHD2):c.5332C>T (p.Pro1778Ser)
|
|
|
NM_001271.4(CHD2):c.5333C>G (p.Pro1778Arg)
|
|
|
NM_001271.4(CHD2):c.5335C>T (p.Pro1779Ser)
|
rs374271060
|
|
NM_001271.4(CHD2):c.5344C>T (p.Pro1782Ser)
|
|
|
NM_001271.4(CHD2):c.5354C>T (p.Ser1785Leu)
|
rs1265214152
|
|
NM_001271.4(CHD2):c.5357A>T (p.Asp1786Val)
|
rs2054570777
|
|
NM_001271.4(CHD2):c.5359C>A (p.Pro1787Thr)
|
|
|
NM_001271.4(CHD2):c.5366C>T (p.Ser1789Leu)
|
rs2054570944
|
|
NM_001271.4(CHD2):c.5384CTC[1] (p.Pro1796del)
|
rs757944116
|
|
NM_001271.4(CHD2):c.5399A>G (p.Lys1800Arg)
|
rs2054571292
|
|
NM_001271.4(CHD2):c.5413C>T (p.His1805Tyr)
|
rs2141761768
|
|
NM_001271.4(CHD2):c.5416A>T (p.Arg1806Trp)
|
rs12906163
|
|
NM_001271.4(CHD2):c.5441A>G (p.Glu1814Gly)
|
|
|
NM_001271.4(CHD2):c.5443C>A (p.Gln1815Lys)
|
|
|
NM_001271.4(CHD2):c.5443_5447del (p.Gln1815fs)
|
|
|
NM_001271.4(CHD2):c.5444A>G (p.Gln1815Arg)
|
rs770556699
|
|
NM_001271.4(CHD2):c.5456C>G (p.Pro1819Arg)
|
|
|
NM_001271.4(CHD2):c.5471A>G (p.Asn1824Ser)
|
|
|
NM_001271.4(CHD2):c.5476C>A (p.Arg1826=)
|
rs759398974
|
|
NM_001271.4(CHD2):c.5476C>G (p.Arg1826Gly)
|
|
|
NM_001271.4(CHD2):c.551+3G>A
|
rs2141773591
|
|
NM_001271.4(CHD2):c.552-5T>C
|
rs2141778314
|
|
NM_001271.4(CHD2):c.593A>G (p.Gln198Arg)
|
rs927044414
|
|
NM_001271.4(CHD2):c.59C>G (p.Ser20Trp)
|
rs1057524801
|
|
NM_001271.4(CHD2):c.607A>G (p.Lys203Glu)
|
rs2141778395
|
|
NM_001271.4(CHD2):c.608A>T (p.Lys203Ile)
|
|
|
NM_001271.4(CHD2):c.616G>C (p.Asp206His)
|
rs2141778412
|
|
NM_001271.4(CHD2):c.617A>G (p.Asp206Gly)
|
rs2141778416
|
|
NM_001271.4(CHD2):c.62+3A>G
|
|
|
NM_001271.4(CHD2):c.63-5A>G
|
|
|
NM_001271.4(CHD2):c.631G>A (p.Asp211Asn)
|
|
|
NM_001271.4(CHD2):c.635A>G (p.Asp212Gly)
|
|
|
NM_001271.4(CHD2):c.645C>G (p.Asp215Glu)
|
|
|
NM_001271.4(CHD2):c.682A>G (p.Lys228Glu)
|
|
|
NM_001271.4(CHD2):c.688G>A (p.Val230Ile)
|
rs762370978
|
|
NM_001271.4(CHD2):c.692+5G>A
|
|
|
NM_001271.4(CHD2):c.692G>A (p.Ser231Asn)
|
rs1262732938
|
|
NM_001271.4(CHD2):c.698A>G (p.Lys233Arg)
|
|
|
NM_001271.4(CHD2):c.721G>C (p.Asp241His)
|
rs2141785066
|
|
NM_001271.4(CHD2):c.733C>A (p.Leu245Ile)
|
|
|
NM_001271.4(CHD2):c.757G>A (p.Val253Ile)
|
rs2053388088
|
|
NM_001271.4(CHD2):c.761A>T (p.Asp254Val)
|
|
|
NM_001271.4(CHD2):c.787A>G (p.Ile263Val)
|
|
|
NM_001271.4(CHD2):c.810A>C (p.Arg270Ser)
|
rs2053388439
|
|
NM_001271.4(CHD2):c.81A>C (p.Glu27Asp)
|
rs2053017198
|
|
NM_001271.4(CHD2):c.847G>C (p.Val283Leu)
|
|
|
NM_001271.4(CHD2):c.856A>G (p.Ile286Val)
|
rs1457822140
|
|
NM_001271.4(CHD2):c.867T>G (p.Asn289Lys)
|
|
|
NM_001271.4(CHD2):c.878G>A (p.Ser293Asn)
|
rs1555439526
|
|
NM_001271.4(CHD2):c.880G>A (p.Gly294Ser)
|
|
|
NM_001271.4(CHD2):c.887T>A (p.Phe296Tyr)
|
rs2141787468
|
|
NM_001271.4(CHD2):c.88G>A (p.Gly30Ser)
|
|
|
NM_001271.4(CHD2):c.892A>G (p.Thr298Ala)
|
|
|
NM_001271.4(CHD2):c.942G>T (p.Trp314Cys)
|
|
|
NM_001271.4(CHD2):c.943T>C (p.Ser315Pro)
|
rs138279266
|
|
NM_001271.4(CHD2):c.998A>T (p.Lys333Met)
|
|
|
NM_001492.6(GDF1):c.1044CTT[1] (p.Phe350del)
|
rs1232905914
|
|
NM_003042.4(SLC6A1):c.1013T>A (p.Ile338Asn)
|
|
|
NM_003042.4(SLC6A1):c.1033A>G (p.Met345Val)
|
|
|
NM_003042.4(SLC6A1):c.1034T>C (p.Met345Thr)
|
rs1697627975
|
|
NM_003042.4(SLC6A1):c.103C>G (p.Gln35Glu)
|
|
|
NM_003042.4(SLC6A1):c.1066G>A (p.Val356Met)
|
rs1697630365
|
|
NM_003042.4(SLC6A1):c.1077A>G (p.Ser359=)
|
|
|
NM_003042.4(SLC6A1):c.1078+4A>G
|
|
|
NM_003042.4(SLC6A1):c.1081C>T (p.Pro361Ser)
|
|
|
NM_003042.4(SLC6A1):c.1091C>T (p.Ala364Val)
|
|
|
NM_003042.4(SLC6A1):c.1096C>A (p.Leu366Met)
|
|
|
NM_003042.4(SLC6A1):c.1106C>T (p.Pro369Leu)
|
rs2124930745
|
|
NM_003042.4(SLC6A1):c.1112C>T (p.Ala371Val)
|
|
|
NM_003042.4(SLC6A1):c.1147A>G (p.Ile383Val)
|
rs1697751144
|
|
NM_003042.4(SLC6A1):c.1150C>G (p.Leu384Val)
|
|
|
NM_003042.4(SLC6A1):c.1178G>A (p.Gly393Asp)
|
rs2124930941
|
|
NM_003042.4(SLC6A1):c.1187G>A (p.Ser396Asn)
|
rs2124930953
|
|
NM_003042.4(SLC6A1):c.118G>A (p.Asp40Asn)
|
|
|
NM_003042.4(SLC6A1):c.1191+3G>A
|
|
|
NM_003042.4(SLC6A1):c.1192-5T>G
|
|
|
NM_003042.4(SLC6A1):c.1192T>C (p.Phe398Leu)
|
|
|
NM_003042.4(SLC6A1):c.1229A>T (p.Asp410Val)
|
|
|
NM_003042.4(SLC6A1):c.1256G>T (p.Arg419Leu)
|
rs941588071
|
|
NM_003042.4(SLC6A1):c.1304G>A (p.Gly435Asp)
|
rs2124932138
|
|
NM_003042.4(SLC6A1):c.1304G>T (p.Gly435Val)
|
|
|
NM_003042.4(SLC6A1):c.131G>C (p.Arg44Pro)
|
rs794726859
|
|
NM_003042.4(SLC6A1):c.1324G>A (p.Gly442Arg)
|
|
|
NM_003042.4(SLC6A1):c.1325G>A (p.Gly442Glu)
|
|
|
NM_003042.4(SLC6A1):c.1345C>T (p.Leu449Phe)
|
|
|
NM_003042.4(SLC6A1):c.1357T>C (p.Tyr453His)
|
|
|
NM_003042.4(SLC6A1):c.1376G>C (p.Ser459Thr)
|
|
|
NM_003042.4(SLC6A1):c.1402T>C (p.Cys468Arg)
|
rs1559636673
|
|
NM_003042.4(SLC6A1):c.1426+3_1426+6del
|
rs1553691139
|
|
NM_003042.4(SLC6A1):c.1427-9A>G
|
rs1698019472
|
|
NM_003042.4(SLC6A1):c.1427G>A (p.Gly476Asp)
|
rs1698020197
|
|
NM_003042.4(SLC6A1):c.1438T>C (p.Phe480Leu)
|
rs758351251
|
|
NM_003042.4(SLC6A1):c.1439T>C (p.Phe480Ser)
|
|
|
NM_003042.4(SLC6A1):c.143A>T (p.Lys48Met)
|
|
|
NM_003042.4(SLC6A1):c.1453C>G (p.Gln485Glu)
|
|
|
NM_003042.4(SLC6A1):c.1454A>G (p.Gln485Arg)
|
rs1359645826
|
|
NM_003042.4(SLC6A1):c.1458G>C (p.Glu486Asp)
|
|
|
NM_003042.4(SLC6A1):c.1461G>A (p.Met487Ile)
|
rs1698021866
|
|
NM_003042.4(SLC6A1):c.1461_1462insCAG (p.Met487_Val488insGln)
|
rs1574922559
|
|
NM_003042.4(SLC6A1):c.1462G>A (p.Val488Ile)
|
|
|
NM_003042.4(SLC6A1):c.1475C>T (p.Pro492Leu)
|
|
|
NM_003042.4(SLC6A1):c.148C>T (p.Arg50Cys)
|
rs754493263
|
|
NM_003042.4(SLC6A1):c.1496G>A (p.Cys499Tyr)
|
rs1574922621
|
|
NM_003042.4(SLC6A1):c.1498T>C (p.Trp500Arg)
|
|
|
NM_003042.4(SLC6A1):c.1504T>C (p.Phe502Leu)
|
rs1029475140
|
|
NM_003042.4(SLC6A1):c.1507T>C (p.Phe503Leu)
|
|
|
NM_003042.4(SLC6A1):c.1513C>G (p.Pro505Ala)
|
rs1698023649
|
|
NM_003042.4(SLC6A1):c.151T>C (p.Phe51Leu)
|
|
|
NM_003042.4(SLC6A1):c.1525G>A (p.Ala509Thr)
|
rs2124942675
|
|
NM_003042.4(SLC6A1):c.1527G>C (p.Ala509=)
|
|
|
NM_003042.4(SLC6A1):c.1528-7T>A
|
rs754449950
|
|
NM_003042.4(SLC6A1):c.154G>T (p.Asp52Tyr)
|
rs1574891085
|
|
NM_003042.4(SLC6A1):c.1557G>T (p.Met519Ile)
|
|
|
NM_003042.4(SLC6A1):c.1573_1574del (p.Gly525fs)
|
|
|
NM_003042.4(SLC6A1):c.1578C>G (p.Asn526Lys)
|
|
|
NM_003042.4(SLC6A1):c.1594T>C (p.Trp532Arg)
|
rs2124944497
|
|
NM_003042.4(SLC6A1):c.1597G>C (p.Gly533Arg)
|
rs1698067665
|
|
NM_003042.4(SLC6A1):c.1598G>A (p.Gly533Asp)
|
|
|
NM_003042.4(SLC6A1):c.1604G>T (p.Gly535Val)
|
|
|
NM_003042.4(SLC6A1):c.1610G>C (p.Gly537Ala)
|
|
|
NM_003042.4(SLC6A1):c.1635G>A (p.Met545Ile)
|
rs2124944561
|
|
NM_003042.4(SLC6A1):c.1640T>G (p.Leu547Arg)
|
rs1559640513
|
|
NM_003042.4(SLC6A1):c.1640del (p.Leu547fs)
|
rs1698068785
|
|
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg)
|
rs886042046
|
|
NM_003042.4(SLC6A1):c.1648G>C (p.Gly550Arg)
|
rs886042046
|
|
NM_003042.4(SLC6A1):c.1655T>A (p.Met552Lys)
|
rs1368412515
|
|
NM_003042.4(SLC6A1):c.1658C>A (p.Ala553Asp)
|
rs1559640572
|
|
NM_003042.4(SLC6A1):c.165G>A (p.Met55Ile)
|
|
|
NM_003042.4(SLC6A1):c.1681G>A (p.Gly561Ser)
|
rs1574925115
|
|
NM_003042.4(SLC6A1):c.1695+3A>G
|
rs1559640624
|
|
NM_003042.4(SLC6A1):c.1696C>T (p.Arg566Cys)
|
|
|
NM_003042.4(SLC6A1):c.169T>G (p.Cys57Gly)
|
rs1697196424
|
|
NM_003042.4(SLC6A1):c.1705G>A (p.Val569Ile)
|
rs1193651446
|
|
NM_003042.4(SLC6A1):c.170G>A (p.Cys57Tyr)
|
rs2124905489
|
|
NM_003042.4(SLC6A1):c.170G>T (p.Cys57Phe)
|
|
|
NM_003042.4(SLC6A1):c.1710G>T (p.Met570Ile)
|
|
|
NM_003042.4(SLC6A1):c.1723G>A (p.Glu575Lys)
|
|
|
NM_003042.4(SLC6A1):c.1738C>G (p.Pro580Ala)
|
rs747243516
|
|
NM_003042.4(SLC6A1):c.1753G>C (p.Glu585Gln)
|
rs1698165983
|
|
NM_003042.4(SLC6A1):c.1773C>G (p.Ser591Arg)
|
rs956462752
|
|
NM_003042.4(SLC6A1):c.1777A>C (p.Thr593Pro)
|
rs1698167143
|
|
NM_003042.4(SLC6A1):c.1781G>A (p.Ser594Asn)
|
|
|
NM_003042.4(SLC6A1):c.1789G>A (p.Ala597Thr)
|
|
|
NM_003042.4(SLC6A1):c.179A>G (p.Tyr60Cys)
|
|
|
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser)
|
rs1057523845
|
|
NM_003042.4(SLC6A1):c.194G>T (p.Gly65Val)
|
rs1697197329
|
|
NM_003042.4(SLC6A1):c.207G>C (p.Arg69Ser)
|
|
|
NM_003042.4(SLC6A1):c.215A>G (p.Tyr72Cys)
|
|
|
NM_003042.4(SLC6A1):c.237G>A (p.Gly79=)
|
rs1392190073
|
|
NM_003042.4(SLC6A1):c.242C>A (p.Ala81Asp)
|
rs2124906663
|
|
NM_003042.4(SLC6A1):c.250A>T (p.Ile84Phe)
|
|
|
NM_003042.4(SLC6A1):c.252C>G (p.Ile84Met)
|
rs1697220075
|
|
NM_003042.4(SLC6A1):c.292T>G (p.Phe98Val)
|
rs2124906828
|
|
NM_003042.4(SLC6A1):c.299T>C (p.Leu100Pro)
|
rs2124906844
|
|
NM_003042.4(SLC6A1):c.302A>C (p.Glu101Ala)
|
|
|
NM_003042.4(SLC6A1):c.305G>T (p.Cys102Phe)
|
rs1553688027
|
|
NM_003042.4(SLC6A1):c.313G>T (p.Gly105Cys)
|
rs144322561
|
|
NM_003042.4(SLC6A1):c.314G>A (p.Gly105Asp)
|
rs1697222986
|
|
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu)
|
rs1574892457
|
|
NM_003042.4(SLC6A1):c.332G>T (p.Gly111Val)
|
rs1574892457
|
|
NM_003042.4(SLC6A1):c.361A>G (p.Met121Val)
|
rs2124907057
|
|
NM_003042.4(SLC6A1):c.37A>G (p.Ile13Val)
|
rs1553687808
|
|
NM_003042.4(SLC6A1):c.37A>T (p.Ile13Phe)
|
rs1553687808
|
|
NM_003042.4(SLC6A1):c.386C>T (p.Ala129Val)
|
rs1697262028
|
|
NM_003042.4(SLC6A1):c.395T>C (p.Leu132Pro)
|
rs2124908640
|
|
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys)
|
rs2124908722
|
|
NM_003042.4(SLC6A1):c.438G>T (p.Trp146Cys)
|
rs2124908813
|
|
NM_003042.4(SLC6A1):c.452T>C (p.Leu151Pro)
|
|
|
NM_003042.4(SLC6A1):c.452T>G (p.Leu151Arg)
|
rs1697264679
|
|
NM_003042.4(SLC6A1):c.469A>G (p.Thr157Ala)
|
rs2124908883
|
|
NM_003042.4(SLC6A1):c.46G>A (p.Glu16Lys)
|
|
|
NM_003042.4(SLC6A1):c.470C>T (p.Thr157Met)
|
|
|
NM_003042.4(SLC6A1):c.471+5G>A
|
rs2124908923
|
|
NM_003042.4(SLC6A1):c.493G>A (p.Asp165Asn)
|
rs748779390
|
|
NM_003042.4(SLC6A1):c.502T>C (p.Trp168Arg)
|
|
|
NM_003042.4(SLC6A1):c.506A>T (p.Asn169Ile)
|
|
|
NM_003042.4(SLC6A1):c.515G>A (p.Arg172His)
|
|
|
NM_003042.4(SLC6A1):c.521T>C (p.Phe174Ser)
|
|
|
NM_003042.4(SLC6A1):c.548C>T (p.Thr183Ile)
|
|
|
NM_003042.4(SLC6A1):c.54C>T (p.Ser18=)
|
rs1697188624
|
|
NM_003042.4(SLC6A1):c.553A>G (p.Met185Val)
|
rs1697341413
|
|
NM_003042.4(SLC6A1):c.576C>A (p.Phe192Leu)
|
rs1697342927
|
|
NM_003042.4(SLC6A1):c.578G>T (p.Trp193Leu)
|
rs1697343079
|
|
NM_003042.4(SLC6A1):c.581+3G>A
|
rs1442190993
|
|
NM_003042.4(SLC6A1):c.581+3G>C
|
rs1442190993
|
|
NM_003042.4(SLC6A1):c.59C>T (p.Ala20Val)
|
|
|
NM_003042.4(SLC6A1):c.602C>T (p.Thr201Met)
|
|
|
NM_003042.4(SLC6A1):c.606C>A (p.Asp202Glu)
|
|
|
NM_003042.4(SLC6A1):c.631C>T (p.Arg211Cys)
|
|
|
NM_003042.4(SLC6A1):c.650C>T (p.Thr217Met)
|
rs1396036517
|
|
NM_003042.4(SLC6A1):c.658_663del (p.Ile220_Ala221del)
|
|
|
NM_003042.4(SLC6A1):c.70A>C (p.Asn24His)
|
|
|
NM_003042.4(SLC6A1):c.715-4C>A
|
|
|
NM_003042.4(SLC6A1):c.715G>A (p.Val239Met)
|
rs2124924012
|
|
NM_003042.4(SLC6A1):c.719T>C (p.Val240Ala)
|
rs1184399068
|
|
NM_003042.4(SLC6A1):c.724T>A (p.Phe242Ile)
|
|
|
NM_003042.4(SLC6A1):c.740C>T (p.Pro247Leu)
|
rs1057524158
|
|
NM_003042.4(SLC6A1):c.743A>T (p.Tyr248Phe)
|
|
|
NM_003042.4(SLC6A1):c.767T>C (p.Phe256Ser)
|
rs1559629753
|
|
NM_003042.4(SLC6A1):c.773G>A (p.Gly258Glu)
|
|
|
NM_003042.4(SLC6A1):c.781C>G (p.Leu261Val)
|
|
|
NM_003042.4(SLC6A1):c.799G>A (p.Gly267Ser)
|
rs2124924313
|
|
NM_003042.4(SLC6A1):c.803T>C (p.Ile268Thr)
|
|
|
NM_003042.4(SLC6A1):c.805C>T (p.Leu269Phe)
|
rs2124924355
|
|
NM_003042.4(SLC6A1):c.814A>G (p.Ile272Val)
|
rs910919772
|
|
NM_003042.4(SLC6A1):c.821C>G (p.Pro274Arg)
|
rs2124924416
|
|
NM_003042.4(SLC6A1):c.830G>T (p.Arg277Leu)
|
|
|
NM_003042.4(SLC6A1):c.847G>A (p.Glu283Lys)
|
rs1697587984
|
|
NM_003042.4(SLC6A1):c.849G>C (p.Glu283Asp)
|
|
|
NM_003042.4(SLC6A1):c.850G>T (p.Val284Leu)
|
rs1559630133
|
|
NM_003042.4(SLC6A1):c.853T>C (p.Trp285Arg)
|
rs1559630143
|
|
NM_003042.4(SLC6A1):c.856C>G (p.Leu286Val)
|
|
|
NM_003042.4(SLC6A1):c.875T>C (p.Ile292Thr)
|
|
|
NM_003042.4(SLC6A1):c.890G>T (p.Gly297Val)
|
rs1697598818
|
|
NM_003042.4(SLC6A1):c.904T>A (p.Ser302Thr)
|
rs1574907293
|
|
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr)
|
rs1391625316
|
|
NM_003042.4(SLC6A1):c.930C>A (p.Asn310Lys)
|
rs1697600999
|
|
NM_003042.4(SLC6A1):c.939C>A (p.His313Gln)
|
|
|
NM_003042.4(SLC6A1):c.943A>G (p.Asn315Asp)
|
rs768276892
|
|
NM_003042.4(SLC6A1):c.967G>T (p.Val323Phe)
|
rs1403165900
|
|
NM_003042.4(SLC6A1):c.968T>A (p.Val323Asp)
|
|
|
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu)
|
rs1334690406
|
|
NM_003042.4(SLC6A1):c.983C>T (p.Ser328Leu)
|
rs779431997
|
|
NM_003042.4(SLC6A1):c.985T>A (p.Cys329Ser)
|
|
|
NM_003042.4(SLC6A1):c.988A>C (p.Thr330Pro)
|
|
|
NM_003042.4(SLC6A1):c.990_991delinsAG (p.Ser331Gly)
|
rs1697624889
|
|
NM_004287.5(GOSR2):c.101A>G (p.Glu34Gly)
|
rs1598980284
|
|
NM_004287.5(GOSR2):c.103A>G (p.Asn35Asp)
|
rs2087304609
|
|
NM_004287.5(GOSR2):c.106G>A (p.Glu36Lys)
|
|
|
NM_004287.5(GOSR2):c.121A>G (p.Ile41Val)
|
|
|
NM_004287.5(GOSR2):c.122T>C (p.Ile41Thr)
|
rs2087307019
|
|
NM_004287.5(GOSR2):c.136A>G (p.Ser46Gly)
|
rs534119817
|
|
NM_004287.5(GOSR2):c.15C>G (p.Phe5Leu)
|
rs2085950798
|
|
NM_004287.5(GOSR2):c.162G>T (p.Leu54Phe)
|
|
|
NM_004287.5(GOSR2):c.167G>T (p.Ser56Ile)
|
rs751458272
|
|
NM_004287.5(GOSR2):c.169A>G (p.Lys57Glu)
|
|
|
NM_004287.5(GOSR2):c.176C>T (p.Pro59Leu)
|
rs1252615412
|
|
NM_004287.5(GOSR2):c.199_200delinsCA (p.Arg67Gln)
|
rs1555709548
|
|
NM_004287.5(GOSR2):c.205C>A (p.Arg69=)
|
rs770149230
|
|
NM_004287.5(GOSR2):c.206G>A (p.Arg69Gln)
|
rs780211637
|
|
NM_004287.5(GOSR2):c.20A>G (p.Gln7Arg)
|
rs2085951116
|
|
NM_004287.5(GOSR2):c.226G>C (p.Asp76His)
|
rs2146912195
|
|
NM_004287.5(GOSR2):c.235C>T (p.His79Tyr)
|
rs1568171907
|
|
NM_004287.5(GOSR2):c.251T>C (p.Leu84Pro)
|
rs2087482910
|
|
NM_004287.5(GOSR2):c.258C>G (p.Asn86Lys)
|
rs1598988935
|
|
NM_004287.5(GOSR2):c.271C>T (p.Arg91Cys)
|
rs2087485301
|
|
NM_004287.5(GOSR2):c.278C>T (p.Ala93Val)
|
rs2146913099
|
|
NM_004287.5(GOSR2):c.283G>A (p.Glu95Lys)
|
rs2146913169
|
|
NM_004287.5(GOSR2):c.285G>C (p.Glu95Asp)
|
rs2146913197
|
|
NM_004287.5(GOSR2):c.29+13C>A
|
|
|
NM_004287.5(GOSR2):c.298C>A (p.Gln100Lys)
|
rs759305157
|
|
NM_004287.5(GOSR2):c.300G>C (p.Gln100His)
|
rs2087488656
|
|
NM_004287.5(GOSR2):c.302G>A (p.Arg101Gln)
|
|
|
NM_004287.5(GOSR2):c.31C>G (p.Gln11Glu)
|
rs2146850344
|
|
NM_004287.5(GOSR2):c.320G>C (p.Arg107Pro)
|
rs750960207
|
|
NM_004287.5(GOSR2):c.350C>T (p.Thr117Ile)
|
rs1599019391
|
|
NM_004287.5(GOSR2):c.354A>G (p.Ile118Met)
|
|
|
NM_004287.5(GOSR2):c.374A>G (p.Gln125Arg)
|
|
|
NM_004287.5(GOSR2):c.380A>G (p.Asn127Ser)
|
|
|
NM_004287.5(GOSR2):c.383C>A (p.Ser128Tyr)
|
|
|
NM_004287.5(GOSR2):c.397G>A (p.Val133Ile)
|
|
|
NM_004287.5(GOSR2):c.3G>A (p.Met1Ile)
|
rs1174104260
|
|
NM_004287.5(GOSR2):c.3G>T (p.Met1Ile)
|
|
|
NM_004287.5(GOSR2):c.406G>A (p.Gly136Ser)
|
|
|
NM_004287.5(GOSR2):c.428A>T (p.Asp143Val)
|
rs2088079257
|
|
NM_004287.5(GOSR2):c.432_449del (p.His145_Gly150del)
|
rs1381386644
|
|
NM_004287.5(GOSR2):c.439A>G (p.Ile147Val)
|
rs757363374
|
|
NM_004287.5(GOSR2):c.446A>G (p.Asp149Gly)
|
rs2088083666
|
|
NM_004287.5(GOSR2):c.460_461dup (p.Gln154fs)
|
|
|
NM_004287.5(GOSR2):c.477+6G>T
|
rs1568177911
|
|
NM_004287.5(GOSR2):c.478-7_478-6insAGAACAGAAG
|
|
|
NM_004287.5(GOSR2):c.478G>C (p.Gly160Arg)
|
|
|
NM_004287.5(GOSR2):c.47A>C (p.Gln16Pro)
|
rs746688685
|
|
NM_004287.5(GOSR2):c.494T>C (p.Ile165Thr)
|
|
|
NM_004287.5(GOSR2):c.4G>A (p.Asp2Asn)
|
rs1425442098
|
|
NM_004287.5(GOSR2):c.506C>G (p.Ala169Gly)
|
rs2088814830
|
|
NM_004287.5(GOSR2):c.50C>T (p.Ser17Phe)
|
|
|
NM_004287.5(GOSR2):c.524C>A (p.Ser175Tyr)
|
|
|
NM_004287.5(GOSR2):c.539G>A (p.Arg180Gln)
|
rs1348639194
|
|
NM_004287.5(GOSR2):c.557_584del (p.Ala186fs)
|
rs796052541
|
|
NM_004287.5(GOSR2):c.568A>G (p.Lys190Glu)
|
rs765094724
|
|
NM_004287.5(GOSR2):c.578T>C (p.Met193Thr)
|
rs1328118330
|
|
NM_004287.5(GOSR2):c.596T>C (p.Leu199Pro)
|
|
|
NM_004287.5(GOSR2):c.611T>G (p.Met204Arg)
|
rs2147051685
|
|
NM_004287.5(GOSR2):c.619G>T (p.Val207Leu)
|
rs780839289
|
|
NM_004287.5(GOSR2):c.634A>G (p.Thr212Ala)
|
rs956070241
|
|
NM_004287.5(GOSR2):c.639A>G (p.Ter213Trp)
|
rs2147052419
|
|
NM_004287.5(GOSR2):c.6T>A (p.Asp2Glu)
|
|
|
NM_004287.5(GOSR2):c.79A>C (p.Lys27Gln)
|
rs760997502
|
|
NM_004287.5(GOSR2):c.7C>G (p.Pro3Ala)
|
rs12944167
|
|
NM_004287.5(GOSR2):c.7C>T (p.Pro3Ser)
|
rs12944167
|
|
NM_004287.5(GOSR2):c.92A>G (p.His31Arg)
|
|
|
NM_004287.5(GOSR2):c.94A>G (p.Ile32Val)
|
rs2086996915
|
|
NM_004287.5(GOSR2):c.96A>G (p.Ile32Met)
|
rs2146890867
|
|
NM_004408.4(DNM1):c.1012G>A (p.Val338Ile)
|
|
|
NM_004408.4(DNM1):c.1021G>A (p.Glu341Lys)
|
|
|
NM_004408.4(DNM1):c.1054G>A (p.Asp352Asn)
|
rs148695604
|
|
NM_004408.4(DNM1):c.1061A>G (p.Tyr354Cys)
|
|
|
NM_004408.4(DNM1):c.1100A>C (p.His367Pro)
|
|
|
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys)
|
rs1835087040
|
|
NM_004408.4(DNM1):c.1154G>A (p.Arg385Gln)
|
rs1428107171
|
|
NM_004408.4(DNM1):c.1180A>C (p.Asn394His)
|
rs1835103161
|
|
NM_004408.4(DNM1):c.1196+5G>A
|
rs1835103921
|
|
NM_004408.4(DNM1):c.1197-10G>A
|
|
|
NM_004408.4(DNM1):c.1197-7C>A
|
rs41306488
|
|
NM_004408.4(DNM1):c.11G>A (p.Arg4His)
|
|
|
NM_004408.4(DNM1):c.1246C>G (p.Gln416Glu)
|
rs866836375
|
|
NM_004408.4(DNM1):c.1283T>G (p.Val428Gly)
|
|
|
NM_004408.4(DNM1):c.1336-7T>G
|
rs550764968
|
|
NM_004408.4(DNM1):c.1345T>C (p.Tyr449His)
|
rs1835857400
|
|
NM_004408.4(DNM1):c.1351C>T (p.Arg451Trp)
|
|
|
NM_004408.4(DNM1):c.1352G>A (p.Arg451Gln)
|
|
|
NM_004408.4(DNM1):c.1357C>T (p.Arg453Trp)
|
rs368427334
|
|
NM_004408.4(DNM1):c.1358G>T (p.Arg453Leu)
|
rs750296552
|
|
NM_004408.4(DNM1):c.1371G>T (p.Glu457Asp)
|
rs1835858946
|
|
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
|
|
|
NM_004408.4(DNM1):c.1373G>A (p.Arg458His)
|
|
|
NM_004408.4(DNM1):c.1384A>G (p.Thr462Ala)
|
|
|
NM_004408.4(DNM1):c.13G>A (p.Gly5Ser)
|
rs759483040
|
|
NM_004408.4(DNM1):c.1404G>C (p.Glu468Asp)
|
|
|
NM_004408.4(DNM1):c.1422+5del
|
|
|
NM_004408.4(DNM1):c.1424T>C (p.Val475Ala)
|
|
|
NM_004408.4(DNM1):c.1493+20A>G
|
|
|
NM_004408.4(DNM1):c.1493+3G>C
|
|
|
NM_004408.4(DNM1):c.1493+7G>A
|
|
|
NM_004408.4(DNM1):c.1518G>T (p.Met506Ile)
|
|
|
NM_004408.4(DNM1):c.1523AGA[2] (p.Lys510del)
|
rs763633863
|
|
NM_004408.4(DNM1):c.152T>C (p.Phe51Ser)
|
rs2131061694
|
|
NM_004408.4(DNM1):c.1535C>T (p.Ser512Leu)
|
rs867314420
|
|
NM_004408.4(DNM1):c.1545G>A (p.Gln515=)
|
|
|
NM_004408.4(DNM1):c.1557G>C (p.Leu519=)
|
|
|
NM_004408.4(DNM1):c.1565G>C (p.Arg522Pro)
|
|
|
NM_004408.4(DNM1):c.1571G>T (p.Gly524Val)
|
|
|
NM_004408.4(DNM1):c.161+5_161+6delinsTT
|
|
|
NM_004408.4(DNM1):c.1631T>C (p.Val544Ala)
|
|
|
NM_004408.4(DNM1):c.1646A>G (p.Asn549Ser)
|
rs2131262599
|
|
NM_004408.4(DNM1):c.1678G>C (p.Glu560Gln)
|
|
|
NM_004408.4(DNM1):c.1687T>C (p.Tyr563His)
|
|
|
NM_004408.4(DNM1):c.1690A>T (p.Met564Leu)
|
rs2131283540
|
|
NM_004408.4(DNM1):c.1718G>A (p.Arg573Gln)
|
|
|
NM_004408.4(DNM1):c.1723G>A (p.Val575Met)
|
rs748647924
|
|
NM_004408.4(DNM1):c.176G>A (p.Arg59Gln)
|
|
|
NM_004408.4(DNM1):c.1781+4C>A
|
|
|
NM_004408.4(DNM1):c.1781+5C>T
|
rs1836821115
|
|
NM_004408.4(DNM1):c.1782-3C>T
|
|
|
NM_004408.4(DNM1):c.1786G>A (p.Val596Ile)
|
rs1588449769
|
|
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys)
|
rs1588449811
|
|
NM_004408.4(DNM1):c.1867G>T (p.Ala623Ser)
|
|
|
NM_004408.4(DNM1):c.1872C>T (p.Gly624=)
|
rs1367619284
|
|
NM_004408.4(DNM1):c.1885C>T (p.Arg629Cys)
|
|
|
NM_004408.4(DNM1):c.1888G>A (p.Val630Ile)
|
rs1836896799
|
|
NM_004408.4(DNM1):c.1905A>G (p.Lys635=)
|
|
|
NM_004408.4(DNM1):c.1906-3C>T
|
|
|
NM_004408.4(DNM1):c.1918G>C (p.Glu640Gln)
|
|
|
NM_004408.4(DNM1):c.1918GAG[1] (p.Glu641del)
|
rs748362979
|
|
NM_004408.4(DNM1):c.1928G>A (p.Gly643Asp)
|
rs763245663
|
|
NM_004408.4(DNM1):c.1939T>C (p.Phe647Leu)
|
|
|
NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)
|
|
|
NM_004408.4(DNM1):c.1987C>T (p.Arg663Trp)
|
|
|
NM_004408.4(DNM1):c.2015T>C (p.Ile672Thr)
|
|
|
NM_004408.4(DNM1):c.2028C>G (p.Thr676=)
|
rs1339784958
|
|
NM_004408.4(DNM1):c.2029G>C (p.Val677Leu)
|
|
|
NM_004408.4(DNM1):c.2043G>A (p.Met681Ile)
|
|
|
NM_004408.4(DNM1):c.2057T>C (p.Met686Thr)
|
|
|
NM_004408.4(DNM1):c.208G>A (p.Val70Ile)
|
|
|
NM_004408.4(DNM1):c.2128G>C (p.Asp710His)
|
rs2131297334
|
|
NM_004408.4(DNM1):c.2155G>T (p.Ala719Ser)
|
|
|
NM_004408.4(DNM1):c.2159A>G (p.Glu720Gly)
|
rs1588457823
|
|
NM_004408.4(DNM1):c.2164G>T (p.Ala722Ser)
|
|
|
NM_004408.4(DNM1):c.2170C>T (p.Arg724Trp)
|
|
|
NM_004408.4(DNM1):c.2171G>A (p.Arg724Gln)
|
rs1829428293
|
|
NM_004408.4(DNM1):c.2198A>G (p.His733Arg)
|
|
|
NM_004408.4(DNM1):c.2240C>A (p.Thr747Lys)
|
rs1829432262
|
|
NM_004408.4(DNM1):c.2240C>T (p.Thr747Met)
|
|
|
NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)
|
|
|
NM_004408.4(DNM1):c.2251A>C (p.Ser751Arg)
|
|
|
NM_004408.4(DNM1):c.2253C>G (p.Ser751Arg)
|
rs754280238
|
|
NM_004408.4(DNM1):c.2261T>C (p.Met754Thr)
|
|
|
NM_004408.4(DNM1):c.2306C>G (p.Pro769Arg)
|
|
|
NM_004408.4(DNM1):c.2327C>A (p.Thr776Lys)
|
rs1490577876
|
|
NM_004408.4(DNM1):c.233C>A (p.Thr78Lys)
|
|
|
NM_004408.4(DNM1):c.2350C>G (p.Arg784Gly)
|
|
|
NM_004408.4(DNM1):c.2354C>T (p.Ala785Val)
|
|
|
NM_004408.4(DNM1):c.2356C>A (p.Pro786Thr)
|
rs2131299453
|
|
NM_004408.4(DNM1):c.2359G>A (p.Ala787Thr)
|
rs1286706539
|
|
NM_004408.4(DNM1):c.2375_2393del (p.Arg792fs)
|
|
|
NM_004408.4(DNM1):c.2389G>A (p.Gly797Ser)
|
rs1259228242
|
|
NM_004408.4(DNM1):c.2390G>T (p.Gly797Val)
|
rs1486970211
|
|
NM_004408.4(DNM1):c.2395G>A (p.Ala799Thr)
|
|
|
NM_004408.4(DNM1):c.2401G>A (p.Gly801Arg)
|
|
|
NM_004408.4(DNM1):c.2405C>T (p.Pro802Leu)
|
rs1829472592
|
|
NM_004408.4(DNM1):c.2434G>A (p.Ala812Thr)
|
|
|
NM_004408.4(DNM1):c.2455C>A (p.Pro819Thr)
|
|
|
NM_004408.4(DNM1):c.2469T>G (p.Pro823=)
|
|
|
NM_004408.4(DNM1):c.2474C>T (p.Pro825Leu)
|
rs1295591580
|
|
NM_004408.4(DNM1):c.2483C>T (p.Pro828Leu)
|
rs901408697
|
|
NM_004408.4(DNM1):c.2486C>T (p.Pro829Leu)
|
|
|
NM_004408.4(DNM1):c.2510A>G (p.Asn837Ser)
|
|
|
NM_004408.4(DNM1):c.2510A>T (p.Asn837Ile)
|
|
|
NM_004408.4(DNM1):c.2534+1dup
|
|
|
NM_004408.4(DNM1):c.2534G>A (p.Ser845Asn)
|
rs1829479381
|
|
NM_004408.4(DNM1):c.2535-1G>A
|
|
|
NM_004408.4(DNM1):c.2537G>C (p.Arg846Pro)
|
rs758567328
|
|
NM_004408.4(DNM1):c.2537G>T (p.Arg846Leu)
|
|
|
NM_004408.4(DNM1):c.2540C>A (p.Ser847Ter)
|
|
|
NM_004408.4(DNM1):c.2542G>A (p.Gly848Ser)
|
|
|
NM_004408.4(DNM1):c.2542_2559dup (p.Gly848_Ser853dup)
|
rs1564358652
|
|
NM_004408.4(DNM1):c.2566G>A (p.Glu856Lys)
|
|
|
NM_004408.4(DNM1):c.2576G>A (p.Arg859Lys)
|
|
|
NM_004408.4(DNM1):c.2581C>G (p.Pro861Ala)
|
|
|
NM_004408.4(DNM1):c.2582C>T (p.Pro861Leu)
|
rs187315526
|
|
NM_004408.4(DNM1):c.2584T>G (p.Phe862Val)
|
rs2131314418
|
|
NM_004408.4(DNM1):c.265A>G (p.Lys89Glu)
|
|
|
NM_004408.4(DNM1):c.285G>C (p.Glu95Asp)
|
|
|
NM_004408.4(DNM1):c.292C>T (p.Arg98Cys)
|
|
|
NM_004408.4(DNM1):c.2T>C (p.Met1Thr)
|
|
|
NM_004408.4(DNM1):c.33_34delinsAA (p.Leu12Met)
|
|
|
NM_004408.4(DNM1):c.350C>T (p.Pro117Leu)
|
rs776104715
|
|
NM_004408.4(DNM1):c.352G>A (p.Val118Met)
|
rs1834758362
|
|
NM_004408.4(DNM1):c.383A>G (p.His128Arg)
|
rs368475266
|
|
NM_004408.4(DNM1):c.38T>C (p.Val13Ala)
|
rs969698049
|
|
NM_004408.4(DNM1):c.402G>A (p.Leu134=)
|
rs777767122
|
|
NM_004408.4(DNM1):c.406G>A (p.Asp136Asn)
|
|
|
NM_004408.4(DNM1):c.416G>C (p.Gly139Ala)
|
|
|
NM_004408.4(DNM1):c.427G>C (p.Val143Leu)
|
rs1834788549
|
|
NM_004408.4(DNM1):c.43C>G (p.Arg15Gly)
|
rs1320569379
|
|
NM_004408.4(DNM1):c.470G>A (p.Arg157Gln)
|
rs2131152872
|
|
NM_004408.4(DNM1):c.535T>A (p.Ser179Thr)
|
|
|
NM_004408.4(DNM1):c.560T>C (p.Leu187Pro)
|
|
|
NM_004408.4(DNM1):c.578T>C (p.Val193Ala)
|
|
|
NM_004408.4(DNM1):c.582C>A (p.Asp194Glu)
|
|
|
NM_004408.4(DNM1):c.583C>A (p.Pro195Thr)
|
|
|
NM_004408.4(DNM1):c.588G>A (p.Gln196=)
|
rs1834794265
|
|
NM_004408.4(DNM1):c.589+4G>A
|
|
|
NM_004408.4(DNM1):c.589+4G>T
|
rs751407306
|
|
NM_004408.4(DNM1):c.589G>C (p.Gly197Arg)
|
|
|
NM_004408.4(DNM1):c.603C>G (p.Ile201Met)
|
|
|
NM_004408.4(DNM1):c.604G>T (p.Gly202Trp)
|
|
|
NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr)
|
rs1588355906
|
|
NM_004408.4(DNM1):c.654T>G (p.Asp218Glu)
|
|
|
NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)
|
|
|
NM_004408.4(DNM1):c.680T>G (p.Leu227Arg)
|
|
|
NM_004408.4(DNM1):c.682C>T (p.Arg228Cys)
|
rs1444380018
|
|
NM_004408.4(DNM1):c.685A>G (p.Arg229Gly)
|
rs1834851998
|
|
NM_004408.4(DNM1):c.689G>A (p.Gly230Asp)
|
rs1834860828
|
|
NM_004408.4(DNM1):c.694A>G (p.Ile232Val)
|
|
|
NM_004408.4(DNM1):c.703G>A (p.Val235Met)
|
rs2131157918
|
|
NM_004408.4(DNM1):c.718_720del (p.Lys240del)
|
|
|
NM_004408.4(DNM1):c.745A>G (p.Thr249Ala)
|
|
|
NM_004408.4(DNM1):c.767G>A (p.Arg256Gln)
|
|
|
NM_004408.4(DNM1):c.786T>A (p.His262Gln)
|
rs1376656660
|
|
NM_004408.4(DNM1):c.796C>A (p.Arg266Ser)
|
rs138053929
|
|
NM_004408.4(DNM1):c.811C>T (p.Arg271Cys)
|
rs1834865373
|
|
NM_004408.4(DNM1):c.821C>T (p.Thr274Met)
|
rs1284660372
|
|
NM_004408.4(DNM1):c.845A>G (p.Asn282Ser)
|
|
|
NM_004408.4(DNM1):c.889C>T (p.Arg297Trp)
|
|
|
NM_004408.4(DNM1):c.905G>A (p.Ser302Asn)
|
rs1564332436
|
|
NM_004408.4(DNM1):c.929A>G (p.Glu310Gly)
|
rs1835069996
|
|
NM_004408.4(DNM1):c.952C>T (p.Arg318Cys)
|
rs892194903
|
|
NM_004408.4(DNM1):c.956C>T (p.Pro319Leu)
|
|
|
NM_004408.4(DNM1):c.95C>T (p.Pro32Leu)
|
rs1833619327
|
|
NM_004408.4(DNM1):c.963C>A (p.Asp321Glu)
|
|
|
NM_004408.4(DNM1):c.967G>T (p.Ala323Ser)
|
|
|
NM_004408.4(DNM1):c.970C>T (p.Arg324Cys)
|
|
|
NM_004408.4(DNM1):c.985C>G (p.Leu329Val)
|
rs868772525
|
|
NM_004408.4(DNM1):c.992+3G>A
|
|
|
NM_004408.4(DNM1):c.993-13_993-11del
|
|
|
NM_004408.4(DNM1):c.996G>A (p.Met332Ile)
|
|
|
NM_005045.4(RELN):c.-5_1dup (p.Met(?_1)_Met1(?))
|
|
|
NM_005045.4(RELN):c.1000C>T (p.Arg334Cys)
|
|
|
NM_005045.4(RELN):c.1001G>T (p.Arg334Leu)
|
rs146922726
|
|
NM_005045.4(RELN):c.10022A>G (p.Gln3341Arg)
|
rs752958651
|
|
NM_005045.4(RELN):c.10037A>G (p.Asn3346Ser)
|
rs1192573356
|
|
NM_005045.4(RELN):c.10038C>A (p.Asn3346Lys)
|
|
|
NM_005045.4(RELN):c.10039A>C (p.Ser3347Arg)
|
rs1450247215
|
|
NM_005045.4(RELN):c.10040G>A (p.Ser3347Asn)
|
rs1828326766
|
|
NM_005045.4(RELN):c.10049G>A (p.Ser3350Asn)
|
|
|
NM_005045.4(RELN):c.10052G>T (p.Gly3351Val)
|
rs2116978384
|
|
NM_005045.4(RELN):c.10054C>A (p.Pro3352Thr)
|
rs1202492754
|
|
NM_005045.4(RELN):c.10100A>G (p.Asn3367Ser)
|
|
|
NM_005045.4(RELN):c.10106T>C (p.Ile3369Thr)
|
|
|
NM_005045.4(RELN):c.10135C>T (p.Pro3379Ser)
|
rs1288993333
|
|
NM_005045.4(RELN):c.1015T>C (p.Tyr339His)
|
rs2115780671
|
|
NM_005045.4(RELN):c.10181+7G>A
|
rs1554360619
|
|
NM_005045.4(RELN):c.10189C>T (p.Arg3397Trp)
|
|
|
NM_005045.4(RELN):c.10207C>G (p.Leu3403Val)
|
rs2116975944
|
|
NM_005045.4(RELN):c.10211G>A (p.Arg3404His)
|
rs1473736832
|
|
NM_005045.4(RELN):c.1022C>G (p.Ala341Gly)
|
|
|
NM_005045.4(RELN):c.1022C>T (p.Ala341Val)
|
rs1467885013
|
|
NM_005045.4(RELN):c.10231A>G (p.Asn3411Asp)
|
|
|
NM_005045.4(RELN):c.10248T>A (p.Asp3416Glu)
|
rs1828293057
|
|
NM_005045.4(RELN):c.10252T>C (p.Trp3418Arg)
|
|
|
NM_005045.4(RELN):c.10255G>T (p.Ala3419Ser)
|
rs2116975803
|
|
NM_005045.4(RELN):c.10273G>A (p.Val3425Ile)
|
rs2116975749
|
|
NM_005045.4(RELN):c.10273GTC[1] (p.Val3426del)
|
rs1159588480
|
|
NM_005045.4(RELN):c.102_103delinsTT (p.Pro35Ser)
|
rs2116860248
|
|
NM_005045.4(RELN):c.10303T>C (p.Tyr3435His)
|
rs1827903281
|
|
NM_005045.4(RELN):c.10306A>G (p.Met3436Val)
|
rs1257276738
|
|
NM_005045.4(RELN):c.10307TGA[1] (p.Met3437del)
|
rs1406481652
|
|
NM_005045.4(RELN):c.10322_10324del (p.Arg3441del)
|
rs770480930
|
|
NM_005045.4(RELN):c.10340A>G (p.His3447Arg)
|
|
|
NM_005045.4(RELN):c.10352G>T (p.Arg3451Ile)
|
rs2116945728
|
|
NM_005045.4(RELN):c.1037A>G (p.Asp346Gly)
|
|
|
NM_005045.4(RELN):c.10381T>C (p.Ter3461Arg)
|
|
|
NM_005045.4(RELN):c.1051A>G (p.Ile351Val)
|
|
|
NM_005045.4(RELN):c.105CTT[1] (p.Phe38del)
|
rs1563127968
|
|
NM_005045.4(RELN):c.1063C>T (p.His355Tyr)
|
|
|
NM_005045.4(RELN):c.109T>C (p.Phe37Leu)
|
|
|
NM_005045.4(RELN):c.1117C>A (p.Leu373Ile)
|
rs1421351225
|
|
NM_005045.4(RELN):c.1117C>T (p.Leu373Phe)
|
|
|
NM_005045.4(RELN):c.1126C>T (p.Pro376Ser)
|
|
|
NM_005045.4(RELN):c.1129G>A (p.Gly377Arg)
|
rs2115780068
|
|
NM_005045.4(RELN):c.1136C>T (p.Thr379Ile)
|
|
|
NM_005045.4(RELN):c.1143+4A>G
|
rs1834010100
|
|
NM_005045.4(RELN):c.1144C>T (p.His382Tyr)
|
|
|
NM_005045.4(RELN):c.1145A>G (p.His382Arg)
|
rs756299850
|
|
NM_005045.4(RELN):c.1153C>G (p.Gln385Glu)
|
rs1833669763
|
|
NM_005045.4(RELN):c.1166A>G (p.Asn389Ser)
|
rs2115696295
|
|
NM_005045.4(RELN):c.1173T>G (p.Ile391Met)
|
rs2115696262
|
|
NM_005045.4(RELN):c.1180C>T (p.His394Tyr)
|
|
|
NM_005045.4(RELN):c.1181A>G (p.His394Arg)
|
|
|
NM_005045.4(RELN):c.1184G>A (p.Gly395Glu)
|
|
|
NM_005045.4(RELN):c.1192G>A (p.Gly398Ser)
|
|
|
NM_005045.4(RELN):c.1193G>C (p.Gly398Ala)
|
rs766992224
|
|
NM_005045.4(RELN):c.1194C>T (p.Gly398=)
|
rs761288381
|
|
NM_005045.4(RELN):c.1205A>G (p.Asn402Ser)
|
|
|
NM_005045.4(RELN):c.1214C>T (p.Thr405Ile)
|
|
|
NM_005045.4(RELN):c.1225G>A (p.Val409Ile)
|
rs1833667563
|
|
NM_005045.4(RELN):c.1231C>T (p.Leu411Phe)
|
rs144978163
|
|
NM_005045.4(RELN):c.124C>T (p.His42Tyr)
|
|
|
NM_005045.4(RELN):c.1250A>G (p.Gln417Arg)
|
rs1554402126
|
|
NM_005045.4(RELN):c.1265A>G (p.Glu422Gly)
|
|
|
NM_005045.4(RELN):c.1286C>T (p.Thr429Ile)
|
rs1833665870
|
|
NM_005045.4(RELN):c.1289+4A>G
|
|
|
NM_005045.4(RELN):c.1289+4dup
|
rs1833665764
|
|
NM_005045.4(RELN):c.1296T>A (p.Asp432Glu)
|
|
|
NM_005045.4(RELN):c.1313T>C (p.Ile438Thr)
|
rs1463687606
|
|
NM_005045.4(RELN):c.1338A>T (p.Glu446Asp)
|
rs766146040
|
|
NM_005045.4(RELN):c.1344C>T (p.Gly448=)
|
rs144150588
|
|
NM_005045.4(RELN):c.1351A>G (p.Met451Val)
|
|
|
NM_005045.4(RELN):c.1352T>C (p.Met451Thr)
|
rs1833139566
|
|
NM_005045.4(RELN):c.1361T>C (p.Leu454Pro)
|
rs1833139042
|
|
NM_005045.4(RELN):c.1372G>C (p.Glu458Gln)
|
|
|
NM_005045.4(RELN):c.1394C>T (p.Ser465Phe)
|
rs111409626
|
|
NM_005045.4(RELN):c.13G>A (p.Gly5Ser)
|
|
|
NM_005045.4(RELN):c.1402A>T (p.Thr468Ser)
|
rs1833136675
|
|
NM_005045.4(RELN):c.1415G>A (p.Gly472Glu)
|
rs2117412664
|
|
NM_005045.4(RELN):c.1441+5G>A
|
rs1402939542
|
|
NM_005045.4(RELN):c.1445G>A (p.Gly482Glu)
|
|
|
NM_005045.4(RELN):c.1456C>T (p.Pro486Ser)
|
|
|
NM_005045.4(RELN):c.1464T>G (p.Asn488Lys)
|
rs1832980117
|
|
NM_005045.4(RELN):c.1469A>G (p.His490Arg)
|
|
|
NM_005045.4(RELN):c.1505G>C (p.Gly502Ala)
|
rs1382483563
|
|
NM_005045.4(RELN):c.1519A>G (p.Ile507Val)
|
|
|
NM_005045.4(RELN):c.1525C>G (p.Leu509Val)
|
|
|
NM_005045.4(RELN):c.1528G>A (p.Asp510Asn)
|
|
|
NM_005045.4(RELN):c.1552A>G (p.Lys518Glu)
|
rs1832977510
|
|
NM_005045.4(RELN):c.1555-4A>G
|
|
|
NM_005045.4(RELN):c.1555G>A (p.Val519Ile)
|
rs560704715
|
|
NM_005045.4(RELN):c.1555G>C (p.Val519Leu)
|
rs560704715
|
|
NM_005045.4(RELN):c.1556T>C (p.Val519Ala)
|
rs1832948997
|
|
NM_005045.4(RELN):c.1559C>T (p.Pro520Leu)
|
|
|
NM_005045.4(RELN):c.1581C>T (p.Ile527=)
|
|
|
NM_005045.4(RELN):c.1583A>G (p.Asn528Ser)
|
rs1217281315
|
|
NM_005045.4(RELN):c.1586C>T (p.Pro529Leu)
|
|
|
NM_005045.4(RELN):c.1591C>A (p.Leu531Ile)
|
|
|
NM_005045.4(RELN):c.1621A>G (p.Arg541Gly)
|
rs1562941047
|
|
NM_005045.4(RELN):c.1633C>T (p.His545Tyr)
|
|
|
NM_005045.4(RELN):c.1638A>C (p.Gln546His)
|
rs1832946111
|
|
NM_005045.4(RELN):c.1640G>A (p.Gly547Glu)
|
|
|
NM_005045.4(RELN):c.1647T>A (p.Asn549Lys)
|
rs1832945895
|
|
NM_005045.4(RELN):c.1649G>A (p.Arg550Lys)
|
rs773589573
|
|
NM_005045.4(RELN):c.1650G>C (p.Arg550Ser)
|
rs2117391616
|
|
NM_005045.4(RELN):c.1684C>T (p.Pro562Ser)
|
rs2117391501
|
|
NM_005045.4(RELN):c.1699A>G (p.Thr567Ala)
|
|
|
NM_005045.4(RELN):c.1702A>G (p.Met568Val)
|
|
|
NM_005045.4(RELN):c.1706C>G (p.Ser569Cys)
|
rs2117391403
|
|
NM_005045.4(RELN):c.1711A>C (p.Met571Leu)
|
|
|
NM_005045.4(RELN):c.1711A>G (p.Met571Val)
|
rs2117391388
|
|
NM_005045.4(RELN):c.1713G>T (p.Met571Ile)
|
|
|
NM_005045.4(RELN):c.1715T>C (p.Ile572Thr)
|
|
|
NM_005045.4(RELN):c.1726A>C (p.Ile576Leu)
|
|
|
NM_005045.4(RELN):c.1735G>A (p.Gly579Arg)
|
rs1584378671
|
|
NM_005045.4(RELN):c.173C>T (p.Ser58Phe)
|
rs1797168998
|
|
NM_005045.4(RELN):c.1745C>A (p.Thr582Lys)
|
|
|
NM_005045.4(RELN):c.1745C>T (p.Thr582Met)
|
rs1038574999
|
|
NM_005045.4(RELN):c.1753C>G (p.Pro585Ala)
|
|
|
NM_005045.4(RELN):c.1763+5_1763+6delinsTT
|
rs2117391274
|
|
NM_005045.4(RELN):c.1763+6A>T
|
rs1832942524
|
|
NM_005045.4(RELN):c.1763+9_1763+22del
|
|
|
NM_005045.4(RELN):c.1765G>A (p.Val589Ile)
|
rs1199009421
|
|
NM_005045.4(RELN):c.1784C>T (p.Thr595Ile)
|
rs2117389352
|
|
NM_005045.4(RELN):c.179A>G (p.His60Arg)
|
rs1584425634
|
|
NM_005045.4(RELN):c.1808T>G (p.Leu603Arg)
|
rs2117389224
|
|
NM_005045.4(RELN):c.1841C>A (p.Ala614Asp)
|
rs1832918061
|
|
NM_005045.4(RELN):c.1860C>A (p.His620Gln)
|
|
|
NM_005045.4(RELN):c.1864A>G (p.Thr622Ala)
|
rs2117389074
|
|
NM_005045.4(RELN):c.187G>T (p.Gly63Cys)
|
|
|
NM_005045.4(RELN):c.1901G>A (p.Arg634Gln)
|
rs779205093
|
|
NM_005045.4(RELN):c.1903A>T (p.Ile635Leu)
|
rs1411192424
|
|
NM_005045.4(RELN):c.1911T>G (p.Ile637Met)
|
rs2117386083
|
|
NM_005045.4(RELN):c.191A>G (p.Asn64Ser)
|
|
|
NM_005045.4(RELN):c.1923C>G (p.Asn641Lys)
|
|
|
NM_005045.4(RELN):c.1931T>C (p.Leu644Pro)
|
|
|
NM_005045.4(RELN):c.1936C>G (p.Arg646Gly)
|
rs115831287
|
|
NM_005045.4(RELN):c.193C>T (p.Pro65Ser)
|
rs1797168163
|
|
NM_005045.4(RELN):c.1945A>G (p.Arg649Gly)
|
|
|
NM_005045.4(RELN):c.1951C>T (p.Arg651Cys)
|
rs749565108
|
|
NM_005045.4(RELN):c.1969C>G (p.Pro657Ala)
|
|
|
NM_005045.4(RELN):c.196A>G (p.Thr66Ala)
|
rs751673305
|
|
NM_005045.4(RELN):c.1985T>C (p.Met662Thr)
|
|
|
NM_005045.4(RELN):c.1A>G (p.Met1Val)
|
rs1218893617
|
|
NM_005045.4(RELN):c.2001T>A (p.Asn667Lys)
|
|
|
NM_005045.4(RELN):c.2002+4A>G
|
|
|
NM_005045.4(RELN):c.2009T>C (p.Ile670Thr)
|
rs1832676819
|
|
NM_005045.4(RELN):c.2015C>G (p.Pro672Arg)
|
|
|
NM_005045.4(RELN):c.2039G>T (p.Gly680Val)
|
rs1562935595
|
|
NM_005045.4(RELN):c.2042G>A (p.Arg681Lys)
|
|
|
NM_005045.4(RELN):c.205G>A (p.Val69Ile)
|
|
|
NM_005045.4(RELN):c.2060A>C (p.His687Pro)
|
rs755685024
|
|
NM_005045.4(RELN):c.2070-3C>A
|
|
|
NM_005045.4(RELN):c.2071T>G (p.Cys691Gly)
|
rs1562933794
|
|
NM_005045.4(RELN):c.2078C>G (p.Pro693Arg)
|
rs1832583360
|
|
NM_005045.4(RELN):c.208C>A (p.Pro70Thr)
|
rs773680003
|
|
NM_005045.4(RELN):c.2101G>A (p.Glu701Lys)
|
rs2117351742
|
|
NM_005045.4(RELN):c.2125A>T (p.Met709Leu)
|
rs114577182
|
|
NM_005045.4(RELN):c.2127G>A (p.Met709Ile)
|
rs2117351623
|
|
NM_005045.4(RELN):c.2149A>G (p.Ser717Gly)
|
rs2117351584
|
|
NM_005045.4(RELN):c.2156G>C (p.Arg719Thr)
|
|
|
NM_005045.4(RELN):c.2158C>G (p.Leu720Val)
|
rs1554395337
|
|
NM_005045.4(RELN):c.2207T>G (p.Phe736Cys)
|
|
|
NM_005045.4(RELN):c.2231G>A (p.Gly744Asp)
|
rs1268141513
|
|
NM_005045.4(RELN):c.2234A>G (p.Lys745Arg)
|
|
|
NM_005045.4(RELN):c.224A>G (p.His75Arg)
|
rs770570216
|
|
NM_005045.4(RELN):c.224A>T (p.His75Leu)
|
rs770570216
|
|
NM_005045.4(RELN):c.226+5G>A
|
|
|
NM_005045.4(RELN):c.226+6T>C
|
|
|
NM_005045.4(RELN):c.226+9del
|
rs753152149
|
|
NM_005045.4(RELN):c.2261G>A (p.Arg754Gln)
|
rs1294568040
|
|
NM_005045.4(RELN):c.2263C>T (p.Arg755Cys)
|
rs1832577812
|
|
NM_005045.4(RELN):c.2268G>C (p.Gln756His)
|
|
|
NM_005045.4(RELN):c.227-3C>T
|
|
|
NM_005045.4(RELN):c.2281T>C (p.Phe761Leu)
|
|
|
NM_005045.4(RELN):c.2297A>G (p.Gln766Arg)
|
rs2117351011
|
|
NM_005045.4(RELN):c.22C>T (p.Arg8Trp)
|
|
|
NM_005045.4(RELN):c.2303+6T>G
|
|
|
NM_005045.4(RELN):c.2325A>C (p.Arg775Ser)
|
rs2117349022
|
|
NM_005045.4(RELN):c.233T>C (p.Ile78Thr)
|
|
|
NM_005045.4(RELN):c.2349C>A (p.Ser783Arg)
|
|
|
NM_005045.4(RELN):c.2359G>A (p.Ala787Thr)
|
rs1254113534
|
|
NM_005045.4(RELN):c.2359G>T (p.Ala787Ser)
|
rs1254113534
|
|
NM_005045.4(RELN):c.2374G>C (p.Gly792Arg)
|
|
|
NM_005045.4(RELN):c.2388G>T (p.Leu796Phe)
|
|
|
NM_005045.4(RELN):c.2396A>G (p.Tyr799Cys)
|
rs2117348731
|
|
NM_005045.4(RELN):c.2431G>C (p.Glu811Gln)
|
|
|
NM_005045.4(RELN):c.2452T>C (p.Tyr818His)
|
|
|
NM_005045.4(RELN):c.245C>A (p.Thr82Asn)
|
rs368049573
|
|
NM_005045.4(RELN):c.2461C>G (p.Pro821Ala)
|
rs988934092
|
|
NM_005045.4(RELN):c.2461C>T (p.Pro821Ser)
|
rs988934092
|
|
NM_005045.4(RELN):c.2476G>T (p.Val826Leu)
|
|
|
NM_005045.4(RELN):c.2477T>C (p.Val826Ala)
|
rs1554394300
|
|
NM_005045.4(RELN):c.2482C>G (p.Leu828Val)
|
rs1832419963
|
|
NM_005045.4(RELN):c.2531C>T (p.Pro844Leu)
|
rs797045000
|
|
NM_005045.4(RELN):c.2550AGA[1] (p.Glu851del)
|
|
|
NM_005045.4(RELN):c.2557G>A (p.Val853Ile)
|
rs1832418242
|
|
NM_005045.4(RELN):c.2563G>A (p.Ala855Thr)
|
rs1269098020
|
|
NM_005045.4(RELN):c.2567T>C (p.Ile856Thr)
|
|
|
NM_005045.4(RELN):c.2581A>G (p.Met861Val)
|
|
|
NM_005045.4(RELN):c.2584A>G (p.Thr862Ala)
|
rs1832417485
|
|
NM_005045.4(RELN):c.25C>G (p.Gln9Glu)
|
rs1797174077
|
|
NM_005045.4(RELN):c.2604C>G (p.Ser868Arg)
|
rs1426251919
|
|
NM_005045.4(RELN):c.2608A>G (p.Ser870Gly)
|
rs2117333045
|
|
NM_005045.4(RELN):c.2620A>G (p.Thr874Ala)
|
|
|
NM_005045.4(RELN):c.265G>C (p.Val89Leu)
|
rs778154915
|
|
NM_005045.4(RELN):c.2686C>A (p.His896Asn)
|
|
|
NM_005045.4(RELN):c.2686C>T (p.His896Tyr)
|
|
|
NM_005045.4(RELN):c.2691C>G (p.Asp897Glu)
|
|
|
NM_005045.4(RELN):c.2702+5G>C
|
rs1832414756
|
|
NM_005045.4(RELN):c.2703-3C>T
|
|
|
NM_005045.4(RELN):c.2708C>T (p.Thr903Ile)
|
|
|
NM_005045.4(RELN):c.2717C>G (p.Ser906Cys)
|
rs1174257090
|
|
NM_005045.4(RELN):c.2721A>T (p.Lys907Asn)
|
rs1831966221
|
|
NM_005045.4(RELN):c.2722C>A (p.Leu908Ile)
|
rs767519770
|
|
NM_005045.4(RELN):c.2725G>A (p.Ala909Thr)
|
rs1167526294
|
|
NM_005045.4(RELN):c.2734A>G (p.Met912Val)
|
|
|
NM_005045.4(RELN):c.2759T>C (p.Met920Thr)
|
|
|
NM_005045.4(RELN):c.2765T>C (p.Ile922Thr)
|
|
|
NM_005045.4(RELN):c.2770G>A (p.Ala924Thr)
|
|
|
NM_005045.4(RELN):c.2786A>G (p.Gln929Arg)
|
|
|
NM_005045.4(RELN):c.278A>G (p.Tyr93Cys)
|
|
|
NM_005045.4(RELN):c.2797G>T (p.Val933Leu)
|
rs2117291698
|
|
NM_005045.4(RELN):c.2810G>C (p.Gly937Ala)
|
rs756821721
|
|
NM_005045.4(RELN):c.2822_2836del (p.Thr941_Asp945del)
|
rs1831961846
|
|
NM_005045.4(RELN):c.2837A>G (p.Asn946Ser)
|
|
|
NM_005045.4(RELN):c.2846A>C (p.Lys949Thr)
|
rs1237046940
|
|
NM_005045.4(RELN):c.2848C>G (p.Leu950Val)
|
|
|
NM_005045.4(RELN):c.2861C>G (p.Thr954Ser)
|
rs2117291489
|
|
NM_005045.4(RELN):c.2872C>G (p.Leu958Val)
|
|
|
NM_005045.4(RELN):c.2887G>A (p.Val963Ile)
|
|
|
NM_005045.4(RELN):c.2895+6T>A
|
|
|
NM_005045.4(RELN):c.289A>G (p.Ser97Gly)
|
|
|
NM_005045.4(RELN):c.28A>G (p.Thr10Ala)
|
|
|
NM_005045.4(RELN):c.28A>T (p.Thr10Ser)
|
rs1584425962
|
|
NM_005045.4(RELN):c.2905C>G (p.Pro969Ala)
|
rs747794244
|
|
NM_005045.4(RELN):c.2913G>A (p.Met971Ile)
|
|
|
NM_005045.4(RELN):c.2917A>G (p.Ser973Gly)
|
|
|
NM_005045.4(RELN):c.292G>A (p.Val98Ile)
|
|
|
NM_005045.4(RELN):c.2975G>A (p.Arg992Lys)
|
rs1831932455
|
|
NM_005045.4(RELN):c.2981T>G (p.Val994Gly)
|
|
|
NM_005045.4(RELN):c.2983A>G (p.Ile995Val)
|
|
|
NM_005045.4(RELN):c.2999A>G (p.Gln1000Arg)
|
rs772586514
|
|
NM_005045.4(RELN):c.3005C>T (p.Thr1002Ile)
|
rs1376812440
|
|
NM_005045.4(RELN):c.3020C>G (p.Thr1007Ser)
|
rs1831766309
|
|
NM_005045.4(RELN):c.3023G>A (p.Arg1008His)
|
|
|
NM_005045.4(RELN):c.3036C>G (p.Ser1012Arg)
|
rs777222017
|
|
NM_005045.4(RELN):c.3040A>C (p.Ser1014Arg)
|
|
|
NM_005045.4(RELN):c.3041G>A (p.Ser1014Asn)
|
|
|
NM_005045.4(RELN):c.3044A>G (p.Tyr1015Cys)
|
|
|
NM_005045.4(RELN):c.3050C>T (p.Thr1017Ile)
|
|
|
NM_005045.4(RELN):c.3061G>A (p.Glu1021Lys)
|
|
|
NM_005045.4(RELN):c.307A>G (p.Ser103Gly)
|
rs749901976
|
|
NM_005045.4(RELN):c.3095A>C (p.Gln1032Pro)
|
|
|
NM_005045.4(RELN):c.3106A>G (p.Met1036Val)
|
|
|
NM_005045.4(RELN):c.3119A>G (p.His1040Arg)
|
|
|
NM_005045.4(RELN):c.311T>C (p.Ile104Thr)
|
rs764845581
|
|
NM_005045.4(RELN):c.3124T>A (p.Ser1042Thr)
|
rs1831762160
|
|
NM_005045.4(RELN):c.3128G>A (p.Cys1043Tyr)
|
|
|
NM_005045.4(RELN):c.3130G>A (p.Asp1044Asn)
|
|
|
NM_005045.4(RELN):c.3131A>T (p.Asp1044Val)
|
rs2117274001
|
|
NM_005045.4(RELN):c.3133C>T (p.His1045Tyr)
|
rs1554389286
|
|
NM_005045.4(RELN):c.3139A>C (p.Ile1047Leu)
|
rs778716913
|
|
NM_005045.4(RELN):c.3152A>G (p.Asp1051Gly)
|
|
|
NM_005045.4(RELN):c.3158G>A (p.Gly1053Glu)
|
rs1831728723
|
|
NM_005045.4(RELN):c.3167G>A (p.Gly1056Asp)
|
rs1831728302
|
|
NM_005045.4(RELN):c.3176G>A (p.Cys1059Tyr)
|
rs1831727885
|
|
NM_005045.4(RELN):c.3178C>T (p.His1060Tyr)
|
|
|
NM_005045.4(RELN):c.3180C>G (p.His1060Gln)
|
|
|
NM_005045.4(RELN):c.3184G>A (p.Glu1062Lys)
|
rs1287038020
|
|
NM_005045.4(RELN):c.3199T>A (p.Ser1067Thr)
|
rs2117271684
|
|
NM_005045.4(RELN):c.3205A>G (p.Ile1069Val)
|
rs963460771
|
|
NM_005045.4(RELN):c.3209T>C (p.Met1070Thr)
|
rs1554389059
|
|
NM_005045.4(RELN):c.3246C>A (p.Asp1082Glu)
|
rs1562917138
|
|
NM_005045.4(RELN):c.3259A>G (p.Ile1087Val)
|
rs1243933034
|
|
NM_005045.4(RELN):c.3263G>C (p.Gly1088Ala)
|
|
|
NM_005045.4(RELN):c.3271A>C (p.Ile1091Leu)
|
|
|
NM_005045.4(RELN):c.3274G>A (p.Val1092Ile)
|
rs2117271353
|
|
NM_005045.4(RELN):c.3277A>C (p.Lys1093Gln)
|
|
|
NM_005045.4(RELN):c.3292T>C (p.Cys1098Arg)
|
|
|
NM_005045.4(RELN):c.32T>G (p.Phe11Cys)
|
rs764120718
|
|
NM_005045.4(RELN):c.3300C>T (p.Val1100=)
|
|
|
NM_005045.4(RELN):c.3316T>C (p.Ser1106Pro)
|
|
|
NM_005045.4(RELN):c.3328A>C (p.Ser1110Arg)
|
rs757668683
|
|
NM_005045.4(RELN):c.3329G>A (p.Ser1110Asn)
|
|
|
NM_005045.4(RELN):c.3331A>G (p.Lys1111Glu)
|
|
|
NM_005045.4(RELN):c.3339G>T (p.Gly1113=)
|
rs1831543602
|
|
NM_005045.4(RELN):c.3340A>G (p.Lys1114Glu)
|
|
|
NM_005045.4(RELN):c.3353T>C (p.Val1118Ala)
|
|
|
NM_005045.4(RELN):c.337+4A>T
|
rs1326392159
|
|
NM_005045.4(RELN):c.3379G>A (p.Val1127Met)
|
rs1160249328
|
|
NM_005045.4(RELN):c.338G>A (p.Gly113Glu)
|
|
|
NM_005045.4(RELN):c.3403C>G (p.Gln1135Glu)
|
rs1831542452
|
|
NM_005045.4(RELN):c.3405_3406delinsTT (p.Gln1135_Ile1136delinsHisLeu)
|
rs2117255146
|
|
NM_005045.4(RELN):c.343A>C (p.Met115Leu)
|
rs1793329222
|
|
NM_005045.4(RELN):c.3451G>C (p.Glu1151Gln)
|
|
|
NM_005045.4(RELN):c.3455G>A (p.Gly1152Asp)
|
rs1831541293
|
|
NM_005045.4(RELN):c.346T>A (p.Ser116Thr)
|
rs1793329078
|
|
NM_005045.4(RELN):c.346T>C (p.Ser116Pro)
|
rs1793329078
|
|
NM_005045.4(RELN):c.3496C>T (p.His1166Tyr)
|
rs1166173010
|
|
NM_005045.4(RELN):c.352C>T (p.His118Tyr)
|
rs1793328921
|
|
NM_005045.4(RELN):c.3541T>G (p.Phe1181Val)
|
rs773320636
|
|
NM_005045.4(RELN):c.3548A>G (p.Tyr1183Cys)
|
|
|
NM_005045.4(RELN):c.3552_3553delinsTA (p.Glu1185Lys)
|
rs1831492761
|
|
NM_005045.4(RELN):c.3562G>A (p.Ala1188Thr)
|
rs2117250423
|
|
NM_005045.4(RELN):c.3598T>G (p.Trp1200Gly)
|
rs1831491786
|
|
NM_005045.4(RELN):c.35T>G (p.Leu12Arg)
|
|
|
NM_005045.4(RELN):c.3619_3620inv (p.Glu1207Ser)
|
|
|
NM_005045.4(RELN):c.3643G>A (p.Asp1215Asn)
|
rs1252404801
|
|
NM_005045.4(RELN):c.3655A>G (p.Ile1219Val)
|
rs1057524179
|
|
NM_005045.4(RELN):c.3665A>T (p.Glu1222Val)
|
rs2117250095
|
|
NM_005045.4(RELN):c.3680T>C (p.Ile1227Thr)
|
rs1584326923
|
|
NM_005045.4(RELN):c.3691A>G (p.Ile1231Val)
|
|
|
NM_005045.4(RELN):c.3745A>G (p.Met1249Val)
|
rs148751867
|
|
NM_005045.4(RELN):c.374T>C (p.Met125Thr)
|
rs1793328118
|
|
NM_005045.4(RELN):c.3755T>C (p.Met1252Thr)
|
|
|
NM_005045.4(RELN):c.3772T>G (p.Leu1258Val)
|
|
|
NM_005045.4(RELN):c.3803C>A (p.Thr1268Asn)
|
rs2117248784
|
|
NM_005045.4(RELN):c.3808T>C (p.Cys1270Arg)
|
rs2117248747
|
|
NM_005045.4(RELN):c.3815C>T (p.Ala1272Val)
|
rs375784624
|
|
NM_005045.4(RELN):c.3817A>G (p.Thr1273Ala)
|
rs1831475227
|
|
NM_005045.4(RELN):c.3833T>C (p.Ile1278Thr)
|
|
|
NM_005045.4(RELN):c.3845C>T (p.Ser1282Leu)
|
|
|
NM_005045.4(RELN):c.3848A>T (p.Asp1283Val)
|
rs2117248656
|
|
NM_005045.4(RELN):c.3865G>A (p.Val1289Ile)
|
rs1190582008
|
|
NM_005045.4(RELN):c.3868A>G (p.Thr1290Ala)
|
|
|
NM_005045.4(RELN):c.3874G>A (p.Asp1292Asn)
|
|
|
NM_005045.4(RELN):c.3888A>T (p.Lys1296Asn)
|
rs745587949
|
|
NM_005045.4(RELN):c.3895T>C (p.Tyr1299His)
|
|
|
NM_005045.4(RELN):c.3896A>G (p.Tyr1299Cys)
|
|
|
NM_005045.4(RELN):c.3905A>T (p.Gln1302Leu)
|
|
|
NM_005045.4(RELN):c.3906G>C (p.Gln1302His)
|
rs1554386837
|
|
NM_005045.4(RELN):c.3919A>G (p.Ile1307Val)
|
|
|
NM_005045.4(RELN):c.3946A>C (p.Thr1316Pro)
|
|
|
NM_005045.4(RELN):c.3947C>T (p.Thr1316Ile)
|
rs1402063651
|
|
NM_005045.4(RELN):c.3955_3957dup (p.Val1319dup)
|
rs1831367827
|
|
NM_005045.4(RELN):c.3971C>G (p.Ser1324Cys)
|
|
|
NM_005045.4(RELN):c.3973C>T (p.His1325Tyr)
|
|
|
NM_005045.4(RELN):c.3987G>A (p.Met1329Ile)
|
|
|
NM_005045.4(RELN):c.4003A>G (p.Lys1335Glu)
|
|
|
NM_005045.4(RELN):c.4008A>C (p.Glu1336Asp)
|
rs2117239786
|
|
NM_005045.4(RELN):c.4010G>C (p.Gly1337Ala)
|
rs1289449043
|
|
NM_005045.4(RELN):c.4013G>A (p.Cys1338Tyr)
|
|
|
NM_005045.4(RELN):c.4031G>A (p.Gly1344Asp)
|
rs1831365750
|
|
NM_005045.4(RELN):c.4063A>G (p.Ser1355Gly)
|
rs1831364343
|
|
NM_005045.4(RELN):c.4063A>T (p.Ser1355Cys)
|
rs1831364343
|
|
NM_005045.4(RELN):c.4088G>A (p.Gly1363Glu)
|
|
|
NM_005045.4(RELN):c.40G>T (p.Ala14Ser)
|
rs147551940
|
|
NM_005045.4(RELN):c.4105A>G (p.Thr1369Ala)
|
|
|
NM_005045.4(RELN):c.410C>T (p.Pro137Leu)
|
|
|
NM_005045.4(RELN):c.4110A>C (p.Arg1370Ser)
|
rs1584322632
|
|
NM_005045.4(RELN):c.4118T>A (p.Ile1373Asn)
|
rs529801155
|
|
NM_005045.4(RELN):c.4145+5A>G
|
|
|
NM_005045.4(RELN):c.4146-4A>G
|
rs2117208520
|
|
NM_005045.4(RELN):c.4146C>G (p.Ser1382Arg)
|
|
|
NM_005045.4(RELN):c.4160G>A (p.Arg1387Gln)
|
rs1259371944
|
|
NM_005045.4(RELN):c.4166T>C (p.Ile1389Thr)
|
rs758093276
|
|
NM_005045.4(RELN):c.416C>T (p.Thr139Ile)
|
|
|
NM_005045.4(RELN):c.4174AGC[3] (p.Ser1394dup)
|
rs1478314996
|
|
NM_005045.4(RELN):c.4176C>G (p.Ser1392Arg)
|
rs765007573
|
|
NM_005045.4(RELN):c.4192G>A (p.Val1398Met)
|
|
|
NM_005045.4(RELN):c.4192G>T (p.Val1398Leu)
|
|
|
NM_005045.4(RELN):c.4195C>T (p.Pro1399Ser)
|
|
|
NM_005045.4(RELN):c.4196C>T (p.Pro1399Leu)
|
|
|
NM_005045.4(RELN):c.4214G>T (p.Gly1405Val)
|
rs1562900485
|
|
NM_005045.4(RELN):c.4222A>C (p.Ile1408Leu)
|
rs1381220339
|
|
NM_005045.4(RELN):c.4226C>G (p.Ser1409Cys)
|
|
|
NM_005045.4(RELN):c.424A>C (p.Ser142Arg)
|
|
|
NM_005045.4(RELN):c.4255C>T (p.His1419Tyr)
|
rs2117208208
|
|
NM_005045.4(RELN):c.425G>T (p.Ser142Ile)
|
|
|
NM_005045.4(RELN):c.4263C>A (p.Asp1421Glu)
|
rs1235295586
|
|
NM_005045.4(RELN):c.4269T>G (p.Ile1423Met)
|
rs1830979263
|
|
NM_005045.4(RELN):c.4303+5G>A
|
rs1374880951
|
|
NM_005045.4(RELN):c.4311A>T (p.Gln1437His)
|
rs770565114
|
|
NM_005045.4(RELN):c.4321G>A (p.Val1441Met)
|
rs752744198
|
|
NM_005045.4(RELN):c.4327A>C (p.Asn1443His)
|
|
|
NM_005045.4(RELN):c.4336A>T (p.Asn1446Tyr)
|
rs1319983959
|
|
NM_005045.4(RELN):c.4339C>G (p.His1447Asp)
|
|
|
NM_005045.4(RELN):c.4346A>C (p.Glu1449Ala)
|
rs2117205481
|
|
NM_005045.4(RELN):c.4348A>G (p.Met1450Val)
|
|
|
NM_005045.4(RELN):c.4349T>C (p.Met1450Thr)
|
|
|
NM_005045.4(RELN):c.4353C>G (p.Phe1451Leu)
|
rs370743731
|
|
NM_005045.4(RELN):c.4366G>A (p.Gly1456Arg)
|
rs1830946543
|
|
NM_005045.4(RELN):c.4372C>T (p.Leu1458Phe)
|
|
|
NM_005045.4(RELN):c.4388A>C (p.Tyr1463Ser)
|
rs1468303240
|
|
NM_005045.4(RELN):c.4402G>A (p.Ala1468Thr)
|
rs1451901900
|
|
NM_005045.4(RELN):c.4403C>G (p.Ala1468Gly)
|
rs1442056564
|
|
NM_005045.4(RELN):c.4415C>G (p.Thr1472Ser)
|
rs1830944848
|
|
NM_005045.4(RELN):c.4427C>T (p.Thr1476Ile)
|
|
|
NM_005045.4(RELN):c.4435G>A (p.Asp1479Asn)
|
rs781311212
|
|
NM_005045.4(RELN):c.4437T>A (p.Asp1479Glu)
|
rs200920818
|
|
NM_005045.4(RELN):c.4440C>T (p.Gly1480=)
|
rs758393207
|
|
NM_005045.4(RELN):c.445C>T (p.Pro149Ser)
|
rs374263472
|
|
NM_005045.4(RELN):c.446C>G (p.Pro149Arg)
|
|
|
NM_005045.4(RELN):c.4472G>A (p.Arg1491Lys)
|
rs764417211
|
|
NM_005045.4(RELN):c.4477G>A (p.Ala1493Thr)
|
rs1307056370
|
|
NM_005045.4(RELN):c.4478C>T (p.Ala1493Val)
|
rs1248208606
|
|
NM_005045.4(RELN):c.4489C>T (p.Pro1497Ser)
|
rs2117205011
|
|
NM_005045.4(RELN):c.4496A>G (p.Asp1499Gly)
|
|
|
NM_005045.4(RELN):c.4507A>G (p.Ile1503Val)
|
rs779797168
|
|
NM_005045.4(RELN):c.4507A>T (p.Ile1503Phe)
|
rs779797168
|
|
NM_005045.4(RELN):c.4511+5C>T
|
|
|
NM_005045.4(RELN):c.4517T>A (p.Val1506Asp)
|
rs1554381609
|
|
NM_005045.4(RELN):c.4520A>T (p.Gln1507Leu)
|
|
|
NM_005045.4(RELN):c.4534A>G (p.Ile1512Val)
|
|
|
NM_005045.4(RELN):c.4541G>A (p.Ser1514Asn)
|
|
|
NM_005045.4(RELN):c.4543A>G (p.Lys1515Glu)
|
rs946390770
|
|
NM_005045.4(RELN):c.4547C>G (p.Thr1516Ser)
|
|
|
NM_005045.4(RELN):c.454A>G (p.Thr152Ala)
|
|
|
NM_005045.4(RELN):c.4556T>C (p.Ile1519Thr)
|
|
|
NM_005045.4(RELN):c.4576A>G (p.Thr1526Ala)
|
rs1393256777
|
|
NM_005045.4(RELN):c.4577C>G (p.Thr1526Ser)
|
rs2117200905
|
|
NM_005045.4(RELN):c.4582A>G (p.Asn1528Asp)
|
|
|
NM_005045.4(RELN):c.4601A>G (p.Gln1534Arg)
|
|
|
NM_005045.4(RELN):c.4609A>T (p.Asn1537Tyr)
|
rs753346658
|
|
NM_005045.4(RELN):c.4612G>A (p.Asp1538Asn)
|
rs1210883875
|
|
NM_005045.4(RELN):c.4613A>G (p.Asp1538Gly)
|
|
|
NM_005045.4(RELN):c.4621A>G (p.Ile1541Val)
|
|
|
NM_005045.4(RELN):c.4630C>G (p.His1544Asp)
|
|
|
NM_005045.4(RELN):c.4718C>T (p.Thr1573Met)
|
rs762922371
|
|
NM_005045.4(RELN):c.473+6T>C
|
rs770023998
|
|
NM_005045.4(RELN):c.4737A>T (p.Gln1579His)
|
rs768948021
|
|
NM_005045.4(RELN):c.4739C>G (p.Pro1580Arg)
|
rs1488556290
|
|
NM_005045.4(RELN):c.474-3C>T
|
rs2116212304
|
|
NM_005045.4(RELN):c.4745A>G (p.His1582Arg)
|
rs932665576
|
|
NM_005045.4(RELN):c.4746T>G (p.His1582Gln)
|
|
|
NM_005045.4(RELN):c.4747+5G>T
|
|
|
NM_005045.4(RELN):c.4751A>G (p.Lys1584Arg)
|
|
|
NM_005045.4(RELN):c.4760C>T (p.Ala1587Val)
|
rs2117188595
|
|
NM_005045.4(RELN):c.4775A>G (p.Asp1592Gly)
|
rs961895163
|
|
NM_005045.4(RELN):c.4777G>A (p.Asp1593Asn)
|
|
|
NM_005045.4(RELN):c.4793T>A (p.Met1598Lys)
|
|
|
NM_005045.4(RELN):c.479C>T (p.Thr160Ile)
|
rs2116212281
|
|
NM_005045.4(RELN):c.4808A>C (p.Gln1603Pro)
|
rs552290322
|
|
NM_005045.4(RELN):c.482C>A (p.Ala161Glu)
|
rs2116212265
|
|
NM_005045.4(RELN):c.4832A>G (p.Asp1611Gly)
|
|
|
NM_005045.4(RELN):c.4838C>T (p.Ser1613Phe)
|
rs201945386
|
|
NM_005045.4(RELN):c.4842A>G (p.Ile1614Met)
|
|
|
NM_005045.4(RELN):c.4855A>G (p.Asn1619Asp)
|
rs1830750187
|
|
NM_005045.4(RELN):c.4868T>C (p.Ile1623Thr)
|
|
|
NM_005045.4(RELN):c.4871A>G (p.Gln1624Arg)
|
|
|
NM_005045.4(RELN):c.4880A>G (p.Gln1627Arg)
|
rs1273427587
|
|
NM_005045.4(RELN):c.4881A>C (p.Gln1627His)
|
|
|
NM_005045.4(RELN):c.4882G>C (p.Val1628Leu)
|
rs1436133395
|
|
NM_005045.4(RELN):c.4888A>G (p.Ile1630Val)
|
|
|
NM_005045.4(RELN):c.488A>G (p.His163Arg)
|
rs2116212240
|
|
NM_005045.4(RELN):c.4891G>A (p.Asp1631Asn)
|
|
|
NM_005045.4(RELN):c.4904T>C (p.Met1635Thr)
|
|
|
NM_005045.4(RELN):c.4905G>A (p.Met1635Ile)
|
rs1423049871
|
|
NM_005045.4(RELN):c.4912G>T (p.Ala1638Ser)
|
|
|
NM_005045.4(RELN):c.4913C>A (p.Ala1638Asp)
|
rs1217207298
|
|
NM_005045.4(RELN):c.4934T>A (p.Ile1645Lys)
|
rs537366000
|
|
NM_005045.4(RELN):c.4936+5A>G
|
rs1554380236
|
|
NM_005045.4(RELN):c.4943C>T (p.Pro1648Leu)
|
rs749050390
|
|
NM_005045.4(RELN):c.4949A>C (p.Tyr1650Ser)
|
|
|
NM_005045.4(RELN):c.4955A>C (p.Glu1652Ala)
|
|
|
NM_005045.4(RELN):c.4969C>T (p.His1657Tyr)
|
|
|
NM_005045.4(RELN):c.4972G>A (p.Val1658Met)
|
|
|
NM_005045.4(RELN):c.497A>G (p.Gln166Arg)
|
rs2116212190
|
|
NM_005045.4(RELN):c.4996T>C (p.Phe1666Leu)
|
|
|
NM_005045.4(RELN):c.5006G>A (p.Ser1669Asn)
|
|
|
NM_005045.4(RELN):c.5009_5020del (p.Met1670_Ser1673del)
|
|
|
NM_005045.4(RELN):c.500T>A (p.Val167Asp)
|
|
|
NM_005045.4(RELN):c.5030G>A (p.Ser1677Asn)
|
rs1830729426
|
|
NM_005045.4(RELN):c.5044G>A (p.Val1682Ile)
|
rs727504125
|
|
NM_005045.4(RELN):c.5069A>G (p.Asn1690Ser)
|
|
|
NM_005045.4(RELN):c.5069A>T (p.Asn1690Ile)
|
rs1830728121
|
|
NM_005045.4(RELN):c.5077G>A (p.Asp1693Asn)
|
rs1487716758
|
|
NM_005045.4(RELN):c.5102G>A (p.Cys1701Tyr)
|
rs746597375
|
|
NM_005045.4(RELN):c.5128C>A (p.His1710Asn)
|
rs1830725754
|
|
NM_005045.4(RELN):c.5168A>T (p.Gln1723Leu)
|
|
|
NM_005045.4(RELN):c.5197C>T (p.Pro1733Ser)
|
|
|
NM_005045.4(RELN):c.5198C>T (p.Pro1733Leu)
|
|
|
NM_005045.4(RELN):c.5207C>T (p.Thr1736Ile)
|
|
|
NM_005045.4(RELN):c.5210+6A>T
|
rs2117185798
|
|
NM_005045.4(RELN):c.5210T>A (p.Ile1737Asn)
|
|
|
NM_005045.4(RELN):c.5210T>C (p.Ile1737Thr)
|
rs202116849
|
|
NM_005045.4(RELN):c.521C>A (p.Ala174Asp)
|
rs1791748632
|
|
NM_005045.4(RELN):c.5224C>T (p.Arg1742Trp)
|
|
|
NM_005045.4(RELN):c.523C>G (p.Gln175Glu)
|
|
|
NM_005045.4(RELN):c.5247C>A (p.Asn1749Lys)
|
|
|
NM_005045.4(RELN):c.5248_5249delinsCT (p.Tyr1750Leu)
|
rs2117178648
|
|
NM_005045.4(RELN):c.524A>G (p.Gln175Arg)
|
|
|
NM_005045.4(RELN):c.5255T>C (p.Val1752Ala)
|
rs1165004470
|
|
NM_005045.4(RELN):c.5258G>A (p.Gly1753Glu)
|
rs1554379129
|
|
NM_005045.4(RELN):c.5260G>A (p.Ala1754Thr)
|
rs1830650545
|
|
NM_005045.4(RELN):c.527A>C (p.Gln176Pro)
|
|
|
NM_005045.4(RELN):c.5287G>T (p.Val1763Leu)
|
|
|
NM_005045.4(RELN):c.528G>T (p.Gln176His)
|
|
|
NM_005045.4(RELN):c.52_63dup (p.Gly18_Leu21dup)
|
rs758519950
|
|
NM_005045.4(RELN):c.5303G>A (p.Cys1768Tyr)
|
|
|
NM_005045.4(RELN):c.5305C>T (p.Pro1769Ser)
|
|
|
NM_005045.4(RELN):c.531G>C (p.Leu177Phe)
|
rs746290551
|
|
NM_005045.4(RELN):c.5329A>G (p.Ile1777Val)
|
|
|
NM_005045.4(RELN):c.5380T>C (p.Cys1794Arg)
|
|
|
NM_005045.4(RELN):c.5389G>T (p.Val1797Phe)
|
|
|
NM_005045.4(RELN):c.539A>G (p.Gln180Arg)
|
|
|
NM_005045.4(RELN):c.53G>T (p.Gly18Val)
|
|
|
NM_005045.4(RELN):c.5408T>C (p.Ile1803Thr)
|
rs1584296775
|
|
NM_005045.4(RELN):c.5418_5420del (p.Asp1807del)
|
rs1830643936
|
|
NM_005045.4(RELN):c.544+5G>A
|
|
|
NM_005045.4(RELN):c.5464G>A (p.Gly1822Ser)
|
|
|
NM_005045.4(RELN):c.5465G>A (p.Gly1822Asp)
|
rs141734678
|
|
NM_005045.4(RELN):c.5468C>A (p.Ala1823Glu)
|
rs1244373166
|
|
NM_005045.4(RELN):c.5474G>C (p.Arg1825Thr)
|
rs368478306
|
|
NM_005045.4(RELN):c.5476G>A (p.Gly1826Arg)
|
rs1830642360
|
|
NM_005045.4(RELN):c.5477G>A (p.Gly1826Glu)
|
|
|
NM_005045.4(RELN):c.5499C>G (p.Ile1833Met)
|
|
|
NM_005045.4(RELN):c.5513C>G (p.Ser1838Cys)
|
|
|
NM_005045.4(RELN):c.5528G>A (p.Gly1843Glu)
|
rs114313194
|
|
NM_005045.4(RELN):c.5528G>T (p.Gly1843Val)
|
|
|
NM_005045.4(RELN):c.5529+10A>C
|
|
|
NM_005045.4(RELN):c.5529+6del
|
|
|
NM_005045.4(RELN):c.553G>T (p.Asp185Tyr)
|
rs1480297004
|
|
NM_005045.4(RELN):c.5540G>A (p.Arg1847Lys)
|
|
|
NM_005045.4(RELN):c.5541G>T (p.Arg1847Ser)
|
|
|
NM_005045.4(RELN):c.5545C>T (p.Leu1849Phe)
|
|
|
NM_005045.4(RELN):c.5549T>C (p.Ile1850Thr)
|
rs1830563554
|
|
NM_005045.4(RELN):c.5558A>T (p.Asp1853Val)
|
|
|
NM_005045.4(RELN):c.5576C>T (p.Thr1859Ile)
|
|
|
NM_005045.4(RELN):c.5579T>C (p.Met1860Thr)
|
|
|
NM_005045.4(RELN):c.5584G>A (p.Val1862Ile)
|
|
|
NM_005045.4(RELN):c.5594C>T (p.Ser1865Leu)
|
|
|
NM_005045.4(RELN):c.55G>T (p.Ala19Ser)
|
|
|
NM_005045.4(RELN):c.5600G>C (p.Arg1867Thr)
|
rs1830562342
|
|
NM_005045.4(RELN):c.5606T>G (p.Ile1869Arg)
|
|
|
NM_005045.4(RELN):c.5613A>C (p.Lys1871Asn)
|
|
|
NM_005045.4(RELN):c.5629T>A (p.Ser1877Thr)
|
|
|
NM_005045.4(RELN):c.563T>C (p.Val188Ala)
|
|
|
NM_005045.4(RELN):c.566A>G (p.His189Arg)
|
rs2116084828
|
|
NM_005045.4(RELN):c.5672C>G (p.Thr1891Ser)
|
rs750831468
|
|
NM_005045.4(RELN):c.5677C>T (p.His1893Tyr)
|
rs1468373493
|
|
NM_005045.4(RELN):c.5684T>C (p.Met1895Thr)
|
rs1584292884
|
|
NM_005045.4(RELN):c.5711C>A (p.Thr1904Lys)
|
rs114190729
|
|
NM_005045.4(RELN):c.5718A>G (p.Ile1906Met)
|
rs1830539198
|
|
NM_005045.4(RELN):c.5729A>G (p.Asn1910Ser)
|
|
|
NM_005045.4(RELN):c.572A>T (p.His191Leu)
|
rs918350971
|
|
NM_005045.4(RELN):c.5731G>A (p.Val1911Ile)
|
rs1830538855
|
|
NM_005045.4(RELN):c.5746A>G (p.Thr1916Ala)
|
rs768731886
|
|
NM_005045.4(RELN):c.5753A>G (p.Gln1918Arg)
|
rs1830538254
|
|
NM_005045.4(RELN):c.5774G>C (p.Arg1925Thr)
|
rs779201520
|
|
NM_005045.4(RELN):c.578-3T>G
|
|
|
NM_005045.4(RELN):c.578-3del
|
rs1047136329
|
|
NM_005045.4(RELN):c.5782C>A (p.Gln1928Lys)
|
|
|
NM_005045.4(RELN):c.5784A>T (p.Gln1928His)
|
|
|
NM_005045.4(RELN):c.5786C>G (p.Pro1929Arg)
|
|
|
NM_005045.4(RELN):c.5788T>C (p.Tyr1930His)
|
rs956716779
|
|
NM_005045.4(RELN):c.5798-10A>G
|
|
|
NM_005045.4(RELN):c.5798G>T (p.Gly1933Val)
|
rs1830467765
|
|
NM_005045.4(RELN):c.5802G>C (p.Lys1934Asn)
|
|
|
NM_005045.4(RELN):c.5804A>C (p.Lys1935Thr)
|
rs1830467705
|
|
NM_005045.4(RELN):c.5838C>G (p.Ile1946Met)
|
|
|
NM_005045.4(RELN):c.5839G>T (p.Asp1947Tyr)
|
|
|
NM_005045.4(RELN):c.5866A>T (p.Met1956Leu)
|
rs1410345577
|
|
NM_005045.4(RELN):c.5876A>G (p.Asp1959Gly)
|
rs1830465679
|
|
NM_005045.4(RELN):c.5879C>A (p.Thr1960Lys)
|
|
|
NM_005045.4(RELN):c.5886T>A (p.Asp1962Glu)
|
rs2117159839
|
|
NM_005045.4(RELN):c.5903A>T (p.Asp1968Val)
|
rs1284690672
|
|
NM_005045.4(RELN):c.5909G>T (p.Trp1970Leu)
|
|
|
NM_005045.4(RELN):c.5918A>C (p.Tyr1973Ser)
|
|
|
NM_005045.4(RELN):c.5920C>G (p.Pro1974Ala)
|
|
|
NM_005045.4(RELN):c.5924G>A (p.Gly1975Asp)
|
|
|
NM_005045.4(RELN):c.5926G>A (p.Gly1976Ser)
|
|
|
NM_005045.4(RELN):c.592G>C (p.Asp198His)
|
|
|
NM_005045.4(RELN):c.5947C>G (p.Pro1983Ala)
|
rs2117159651
|
|
NM_005045.4(RELN):c.5953T>G (p.Ser1985Ala)
|
rs2117159627
|
|
NM_005045.4(RELN):c.5965G>T (p.Ala1989Ser)
|
rs1233107226
|
|
NM_005045.4(RELN):c.5969+3A>G
|
rs1290900424
|
|
NM_005045.4(RELN):c.596G>A (p.Ser199Asn)
|
|
|
NM_005045.4(RELN):c.5987T>C (p.Met1996Thr)
|
|
|
NM_005045.4(RELN):c.5A>G (p.Glu2Gly)
|
|
|
NM_005045.4(RELN):c.6017A>T (p.His2006Leu)
|
|
|
NM_005045.4(RELN):c.601A>G (p.Ile201Val)
|
|
|
NM_005045.4(RELN):c.6020C>A (p.Ser2007Tyr)
|
rs1830456753
|
|
NM_005045.4(RELN):c.602T>C (p.Ile201Thr)
|
|
|
NM_005045.4(RELN):c.6048T>G (p.Asn2016Lys)
|
|
|
NM_005045.4(RELN):c.6077A>G (p.Asn2026Ser)
|
rs1830405923
|
|
NM_005045.4(RELN):c.6083G>A (p.Gly2028Asp)
|
rs1584287058
|
|
NM_005045.4(RELN):c.6127T>C (p.Phe2043Leu)
|
rs2117153454
|
|
NM_005045.4(RELN):c.6134G>C (p.Arg2045Thr)
|
|
|
NM_005045.4(RELN):c.6142G>A (p.Gly2048Arg)
|
rs1359142697
|
|
NM_005045.4(RELN):c.6148A>G (p.Thr2050Ala)
|
rs2117153371
|
|
NM_005045.4(RELN):c.6166C>A (p.Pro2056Thr)
|
|
|
NM_005045.4(RELN):c.6169C>T (p.Leu2057Phe)
|
|
|
NM_005045.4(RELN):c.6173G>A (p.Cys2058Tyr)
|
|
|
NM_005045.4(RELN):c.6179A>G (p.His2060Arg)
|
rs1830402483
|
|
NM_005045.4(RELN):c.6185G>A (p.Ser2062Asn)
|
|
|
NM_005045.4(RELN):c.6190C>G (p.His2064Asp)
|
rs767258528
|
|
NM_005045.4(RELN):c.6233C>T (p.Thr2078Ile)
|
|
|
NM_005045.4(RELN):c.6244G>A (p.Gly2082Arg)
|
|
|
NM_005045.4(RELN):c.6245G>T (p.Gly2082Val)
|
rs2117153080
|
|
NM_005045.4(RELN):c.6254A>C (p.Gln2085Pro)
|
|
|
NM_005045.4(RELN):c.6271G>T (p.Val2091Phe)
|
|
|
NM_005045.4(RELN):c.6274G>C (p.Val2092Leu)
|
rs752081680
|
|
NM_005045.4(RELN):c.6279C>A (p.His2093Gln)
|
rs1830399411
|
|
NM_005045.4(RELN):c.6296T>C (p.Leu2099Pro)
|
|
|
NM_005045.4(RELN):c.62T>C (p.Leu21Pro)
|
|
|
NM_005045.4(RELN):c.6301G>A (p.Gly2101Arg)
|
|
|
NM_005045.4(RELN):c.6352C>G (p.Pro2118Ala)
|
rs2117140020
|
|
NM_005045.4(RELN):c.6356T>C (p.Val2119Ala)
|
|
|
NM_005045.4(RELN):c.6367A>G (p.Ile2123Val)
|
|
|
NM_005045.4(RELN):c.6368T>C (p.Ile2123Thr)
|
rs2117139982
|
|
NM_005045.4(RELN):c.6385G>A (p.Gly2129Ser)
|
rs1228682428
|
|
NM_005045.4(RELN):c.6386G>A (p.Gly2129Asp)
|
|
|
NM_005045.4(RELN):c.6397GAG[1] (p.Glu2134del)
|
rs1420723549
|
|
NM_005045.4(RELN):c.641T>C (p.Leu214Ser)
|
rs2116064367
|
|
NM_005045.4(RELN):c.6425G>A (p.Cys2142Tyr)
|
|
|
NM_005045.4(RELN):c.642A>C (p.Leu214Phe)
|
|
|
NM_005045.4(RELN):c.6431A>T (p.Asn2144Ile)
|
rs776658515
|
|
NM_005045.4(RELN):c.6445A>G (p.Ile2149Val)
|
rs2117139774
|
|
NM_005045.4(RELN):c.6454C>T (p.Pro2152Ser)
|
rs1830265054
|
|
NM_005045.4(RELN):c.6506T>C (p.Leu2169Pro)
|
rs1830259342
|
|
NM_005045.4(RELN):c.6528G>T (p.Gln2176His)
|
rs1830203883
|
|
NM_005045.4(RELN):c.652A>G (p.Ile218Val)
|
|
|
NM_005045.4(RELN):c.653T>C (p.Ile218Thr)
|
|
|
NM_005045.4(RELN):c.654A>G (p.Ile218Met)
|
|
|
NM_005045.4(RELN):c.6552A>C (p.Leu2184Phe)
|
|
|
NM_005045.4(RELN):c.6554T>A (p.Met2185Lys)
|
rs2117134647
|
|
NM_005045.4(RELN):c.6558T>G (p.Ser2186Arg)
|
rs2117134632
|
|
NM_005045.4(RELN):c.6563G>C (p.Gly2188Ala)
|
|
|
NM_005045.4(RELN):c.657-3C>T
|
|
|
NM_005045.4(RELN):c.6575G>A (p.Arg2192Gln)
|
|
|
NM_005045.4(RELN):c.6575G>C (p.Arg2192Pro)
|
rs1309424440
|
|
NM_005045.4(RELN):c.6576A>T (p.Arg2192=)
|
rs1228407959
|
|
NM_005045.4(RELN):c.6580T>C (p.Cys2194Arg)
|
|
|
NM_005045.4(RELN):c.6603C>A (p.Asn2201Lys)
|
rs1830202355
|
|
NM_005045.4(RELN):c.6607C>T (p.Leu2203Phe)
|
rs1296074586
|
|
NM_005045.4(RELN):c.6616A>G (p.Asn2206Asp)
|
rs1200171328
|
|
NM_005045.4(RELN):c.6617A>G (p.Asn2206Ser)
|
rs1830201721
|
|
NM_005045.4(RELN):c.663A>T (p.Glu221Asp)
|
rs1355761301
|
|
NM_005045.4(RELN):c.6644C>T (p.Thr2215Ile)
|
rs2117134357
|
|
NM_005045.4(RELN):c.665G>A (p.Cys222Tyr)
|
|
|
NM_005045.4(RELN):c.6671+4A>T
|
rs1830200491
|
|
NM_005045.4(RELN):c.668A>G (p.Asn223Ser)
|
|
|
NM_005045.4(RELN):c.669C>G (p.Asn223Lys)
|
rs773006128
|
|
NM_005045.4(RELN):c.6721C>T (p.Pro2241Ser)
|
rs1830152580
|
|
NM_005045.4(RELN):c.6722C>T (p.Pro2241Leu)
|
rs1830152521
|
|
NM_005045.4(RELN):c.6727A>G (p.Ser2243Gly)
|
|
|
NM_005045.4(RELN):c.6736G>T (p.Val2246Leu)
|
|
|
NM_005045.4(RELN):c.6747G>T (p.Gln2249His)
|
rs1197417084
|
|
NM_005045.4(RELN):c.6752C>G (p.Ser2251Cys)
|
rs2117129658
|
|
NM_005045.4(RELN):c.6759C>A (p.Asn2253Lys)
|
rs548135273
|
|
NM_005045.4(RELN):c.675T>G (p.Cys225Trp)
|
|
|
NM_005045.4(RELN):c.6760G>A (p.Gly2254Ser)
|
|
|
NM_005045.4(RELN):c.6760G>T (p.Gly2254Cys)
|
|
|
NM_005045.4(RELN):c.6767T>C (p.Leu2256Pro)
|
|
|
NM_005045.4(RELN):c.6769T>C (p.Ser2257Pro)
|
|
|
NM_005045.4(RELN):c.67G>A (p.Ala23Thr)
|
|
|
NM_005045.4(RELN):c.6814G>A (p.Val2272Met)
|
rs2117129475
|
|
NM_005045.4(RELN):c.6814G>C (p.Val2272Leu)
|
|
|
NM_005045.4(RELN):c.6818G>A (p.Gly2273Asp)
|
rs1830149876
|
|
NM_005045.4(RELN):c.6826A>G (p.Ile2276Val)
|
|
|
NM_005045.4(RELN):c.6839T>A (p.Ile2280Lys)
|
rs1584276518
|
|
NM_005045.4(RELN):c.6850G>A (p.Ala2284Thr)
|
|
|
NM_005045.4(RELN):c.6854G>A (p.Arg2285His)
|
rs116394157
|
|
NM_005045.4(RELN):c.6871C>T (p.Leu2291Phe)
|
rs1830148402
|
|
NM_005045.4(RELN):c.6875G>T (p.Arg2292Leu)
|
|
|
NM_005045.4(RELN):c.6908A>G (p.Tyr2303Cys)
|
|
|
NM_005045.4(RELN):c.690G>C (p.Gln230His)
|
rs1302068842
|
|
NM_005045.4(RELN):c.6927T>G (p.Asp2309Glu)
|
rs779047538
|
|
NM_005045.4(RELN):c.6929A>G (p.Gln2310Arg)
|
rs2117129132
|
|
NM_005045.4(RELN):c.6931-8C>G
|
|
|
NM_005045.4(RELN):c.6962C>A (p.Thr2321Lys)
|
|
|
NM_005045.4(RELN):c.6977A>G (p.Asp2326Gly)
|
rs1830124301
|
|
NM_005045.4(RELN):c.6989T>C (p.Leu2330Pro)
|
rs2117126990
|
|
NM_005045.4(RELN):c.7012C>T (p.His2338Tyr)
|
rs2117126938
|
|
NM_005045.4(RELN):c.7015C>T (p.Pro2339Ser)
|
|
|
NM_005045.4(RELN):c.7016C>A (p.Pro2339Gln)
|
|
|
NM_005045.4(RELN):c.7022G>A (p.Gly2341Asp)
|
rs1830123310
|
|
NM_005045.4(RELN):c.7043G>A (p.Gly2348Asp)
|
rs1226611405
|
|
NM_005045.4(RELN):c.7054G>A (p.Asp2352Asn)
|
|
|
NM_005045.4(RELN):c.7063G>T (p.Val2355Phe)
|
rs1442114983
|
|
NM_005045.4(RELN):c.7085C>T (p.Thr2362Ile)
|
rs749494726
|
|
NM_005045.4(RELN):c.7088G>A (p.Arg2363His)
|
|
|
NM_005045.4(RELN):c.7093G>C (p.Val2365Leu)
|
|
|
NM_005045.4(RELN):c.7097T>A (p.Val2366Asp)
|
rs1830121221
|
|
NM_005045.4(RELN):c.7102A>G (p.Thr2368Ala)
|
|
|
NM_005045.4(RELN):c.7109T>C (p.Val2370Ala)
|
|
|
NM_005045.4(RELN):c.7117A>C (p.Asn2373His)
|
|
|
NM_005045.4(RELN):c.7119T>G (p.Asn2373Lys)
|
rs1830120492
|
|
NM_005045.4(RELN):c.7172C>G (p.Ser2391Cys)
|
rs2117126476
|
|
NM_005045.4(RELN):c.7180G>A (p.Ala2394Thr)
|
|
|
NM_005045.4(RELN):c.7231G>A (p.Val2411Ile)
|
rs375160285
|
|
NM_005045.4(RELN):c.7243C>G (p.Leu2415Val)
|
|
|
NM_005045.4(RELN):c.7256T>C (p.Val2419Ala)
|
rs777442978
|
|
NM_005045.4(RELN):c.7267C>A (p.Arg2423Ser)
|
|
|
NM_005045.4(RELN):c.7281A>G (p.Gln2427=)
|
rs1830026530
|
|
NM_005045.4(RELN):c.7283G>A (p.Arg2428Gln)
|
rs948422815
|
|
NM_005045.4(RELN):c.7305C>G (p.Phe2435Leu)
|
|
|
NM_005045.4(RELN):c.7305CAA[1] (p.Asn2436del)
|
rs1830026038
|
|
NM_005045.4(RELN):c.7316C>T (p.Thr2439Ile)
|
|
|
NM_005045.4(RELN):c.7350-10T>A
|
rs751104633
|
|
NM_005045.4(RELN):c.7370G>A (p.Arg2457His)
|
rs371157614
|
|
NM_005045.4(RELN):c.7376A>G (p.His2459Arg)
|
|
|
NM_005045.4(RELN):c.7384G>C (p.Ala2462Pro)
|
|
|
NM_005045.4(RELN):c.7386_7387delinsAA (p.Pro2463Thr)
|
|
|
NM_005045.4(RELN):c.7432G>A (p.Gly2478Arg)
|
|
|
NM_005045.4(RELN):c.7436A>G (p.Asp2479Gly)
|
|
|
NM_005045.4(RELN):c.7460G>C (p.Gly2487Ala)
|
|
|
NM_005045.4(RELN):c.7475T>C (p.Ile2492Thr)
|
|
|
NM_005045.4(RELN):c.7484A>T (p.Asn2495Ile)
|
|
|
NM_005045.4(RELN):c.748G>A (p.Glu250Lys)
|
rs199961531
|
|
NM_005045.4(RELN):c.7498G>A (p.Glu2500Lys)
|
rs1554369707
|
|
NM_005045.4(RELN):c.7540C>T (p.Leu2514Phe)
|
rs1829722994
|
|
NM_005045.4(RELN):c.7577C>T (p.Pro2526Leu)
|
rs1829721999
|
|
NM_005045.4(RELN):c.7601T>C (p.Val2534Ala)
|
|
|
NM_005045.4(RELN):c.7605C>A (p.Asn2535Lys)
|
rs750764421
|
|
NM_005045.4(RELN):c.7624G>C (p.Val2542Leu)
|
rs1829720851
|
|
NM_005045.4(RELN):c.7636G>A (p.Val2546Met)
|
|
|
NM_005045.4(RELN):c.7648A>G (p.Met2550Val)
|
rs1829719853
|
|
NM_005045.4(RELN):c.7660T>C (p.Phe2554Leu)
|
rs2117091992
|
|
NM_005045.4(RELN):c.7668G>A (p.Gly2556=)
|
|
|
NM_005045.4(RELN):c.7668G>C (p.Gly2556=)
|
rs1554369642
|
|
NM_005045.4(RELN):c.7696G>A (p.Asp2566Asn)
|
|
|
NM_005045.4(RELN):c.7700T>G (p.Leu2567Arg)
|
rs2117085948
|
|
NM_005045.4(RELN):c.7703A>G (p.Asn2568Ser)
|
rs1227007493
|
|
NM_005045.4(RELN):c.7722C>A (p.Phe2574Leu)
|
rs2117085900
|
|
NM_005045.4(RELN):c.7739T>A (p.Met2580Lys)
|
|
|
NM_005045.4(RELN):c.773C>T (p.Thr258Ile)
|
rs1790120421
|
|
NM_005045.4(RELN):c.7742A>G (p.Tyr2581Cys)
|
|
|
NM_005045.4(RELN):c.7799T>C (p.Val2600Ala)
|
|
|
NM_005045.4(RELN):c.7821C>A (p.Asn2607Lys)
|
|
|
NM_005045.4(RELN):c.7821C>G (p.Asn2607Lys)
|
|
|
NM_005045.4(RELN):c.7828A>C (p.Met2610Leu)
|
rs200076453
|
|
NM_005045.4(RELN):c.782C>T (p.Ala261Val)
|
|
|
NM_005045.4(RELN):c.7834A>C (p.Ile2612Leu)
|
|
|
NM_005045.4(RELN):c.7834A>G (p.Ile2612Val)
|
rs768772335
|
|
NM_005045.4(RELN):c.7839C>G (p.Phe2613Leu)
|
|
|
NM_005045.4(RELN):c.7843G>A (p.Asp2615Asn)
|
rs772130779
|
|
NM_005045.4(RELN):c.7852A>G (p.Ser2618Gly)
|
|
|
NM_005045.4(RELN):c.7858C>A (p.Pro2620Thr)
|
|
|
NM_005045.4(RELN):c.7882C>A (p.Pro2628Thr)
|
|
|
NM_005045.4(RELN):c.7886C>G (p.Pro2629Arg)
|
|
|
NM_005045.4(RELN):c.7886C>T (p.Pro2629Leu)
|
|
|
NM_005045.4(RELN):c.7887_7888inv (p.Asp2630Asn)
|
|
|
NM_005045.4(RELN):c.7903G>T (p.Ala2635Ser)
|
rs143751470
|
|
NM_005045.4(RELN):c.7909C>A (p.Arg2637Ser)
|
|
|
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys)
|
rs587780438
|
|
NM_005045.4(RELN):c.7934A>C (p.His2645Pro)
|
|
|
NM_005045.4(RELN):c.7949A>G (p.Gln2650Arg)
|
|
|
NM_005045.4(RELN):c.794A>G (p.Gln265Arg)
|
rs2115907767
|
|
NM_005045.4(RELN):c.7959G>C (p.Trp2653Cys)
|
|
|
NM_005045.4(RELN):c.7960G>A (p.Ala2654Thr)
|
rs200915887
|
|
NM_005045.4(RELN):c.7966G>A (p.Asp2656Asn)
|
|
|
NM_005045.4(RELN):c.7970A>G (p.Asn2657Ser)
|
|
|
NM_005045.4(RELN):c.7993G>A (p.Asp2665Asn)
|
|
|
NM_005045.4(RELN):c.79G>A (p.Ala27Thr)
|
rs2116860341
|
|
NM_005045.4(RELN):c.8002A>G (p.Thr2668Ala)
|
rs1829535471
|
|
NM_005045.4(RELN):c.8009T>C (p.Met2670Thr)
|
rs550287694
|
|
NM_005045.4(RELN):c.8027G>A (p.Ser2676Asn)
|
|
|
NM_005045.4(RELN):c.8027G>C (p.Ser2676Thr)
|
rs1829534533
|
|
NM_005045.4(RELN):c.8035G>C (p.Val2679Leu)
|
|
|
NM_005045.4(RELN):c.8066C>T (p.Ala2689Val)
|
rs762107181
|
|
NM_005045.4(RELN):c.8068G>C (p.Gly2690Arg)
|
|
|
NM_005045.4(RELN):c.8074G>T (p.Val2692Phe)
|
|
|
NM_005045.4(RELN):c.8082G>C (p.Arg2694Ser)
|
rs746311326
|
|
NM_005045.4(RELN):c.8083A>C (p.Ile2695Leu)
|
rs1829531529
|
|
NM_005045.4(RELN):c.8097G>A (p.Met2699Ile)
|
rs1829531012
|
|
NM_005045.4(RELN):c.8114C>T (p.Thr2705Ile)
|
rs1554368281
|
|
NM_005045.4(RELN):c.8118A>G (p.Ser2706=)
|
|
|
NM_005045.4(RELN):c.8119+6T>G
|
rs767551473
|
|
NM_005045.4(RELN):c.8123A>C (p.Asn2708Thr)
|
rs1829391748
|
|
NM_005045.4(RELN):c.8130C>A (p.His2710Gln)
|
|
|
NM_005045.4(RELN):c.8155G>A (p.Val2719Ile)
|
|
|
NM_005045.4(RELN):c.8159A>G (p.Glu2720Gly)
|
rs1829390259
|
|
NM_005045.4(RELN):c.8171A>T (p.Asp2724Val)
|
|
|
NM_005045.4(RELN):c.8181T>A (p.Asp2727Glu)
|
|
|
NM_005045.4(RELN):c.8183G>A (p.Gly2728Asp)
|
|
|
NM_005045.4(RELN):c.8195G>T (p.Cys2732Phe)
|
rs777843062
|
|
NM_005045.4(RELN):c.8198G>A (p.Gly2733Asp)
|
rs1296648504
|
|
NM_005045.4(RELN):c.8203C>T (p.His2735Tyr)
|
rs1219212571
|
|
NM_005045.4(RELN):c.8225C>T (p.Ala2742Val)
|
|
|
NM_005045.4(RELN):c.8249C>T (p.Thr2750Ile)
|
|
|
NM_005045.4(RELN):c.8254G>A (p.Gly2752Ser)
|
rs968146584
|
|
NM_005045.4(RELN):c.8259G>C (p.Trp2753Cys)
|
|
|
NM_005045.4(RELN):c.8263A>G (p.Met2755Val)
|
|
|
NM_005045.4(RELN):c.827G>C (p.Ser276Thr)
|
|
|
NM_005045.4(RELN):c.8281G>T (p.Val2761Phe)
|
rs1829094065
|
|
NM_005045.4(RELN):c.8306T>C (p.Ile2769Thr)
|
rs997515801
|
|
NM_005045.4(RELN):c.8314A>C (p.Asn2772His)
|
|
|
NM_005045.4(RELN):c.8315A>T (p.Asn2772Ile)
|
|
|
NM_005045.4(RELN):c.8327T>G (p.Val2776Gly)
|
|
|
NM_005045.4(RELN):c.832T>C (p.Ser278Pro)
|
rs2115796319
|
|
NM_005045.4(RELN):c.8335T>A (p.Ser2779Thr)
|
rs1829091955
|
|
NM_005045.4(RELN):c.8371C>T (p.Pro2791Ser)
|
rs2117039679
|
|
NM_005045.4(RELN):c.837C>A (p.Asp279Glu)
|
rs1295965524
|
|
NM_005045.4(RELN):c.8386G>A (p.Ala2796Thr)
|
|
|
NM_005045.4(RELN):c.838C>G (p.Pro280Ala)
|
rs2115796279
|
|
NM_005045.4(RELN):c.8390A>G (p.Asp2797Gly)
|
rs1829089680
|
|
NM_005045.4(RELN):c.8391C>G (p.Asp2797Glu)
|
rs1829089585
|
|
NM_005045.4(RELN):c.8392C>T (p.Pro2798Ser)
|
|
|
NM_005045.4(RELN):c.8398T>C (p.Cys2800Arg)
|
|
|
NM_005045.4(RELN):c.8404G>C (p.Gly2802Arg)
|
|
|
NM_005045.4(RELN):c.8411T>C (p.Val2804Ala)
|
rs192835206
|
|
NM_005045.4(RELN):c.8414C>T (p.Ser2805Phe)
|
|
|
NM_005045.4(RELN):c.8430C>A (p.Phe2810Leu)
|
|
|
NM_005045.4(RELN):c.8438C>A (p.Thr2813Asn)
|
|
|
NM_005045.4(RELN):c.843C>A (p.Ser281Arg)
|
|
|
NM_005045.4(RELN):c.8440A>G (p.Lys2814Glu)
|
rs2117039456
|
|
NM_005045.4(RELN):c.8445G>T (p.Gly2815=)
|
|
|
NM_005045.4(RELN):c.844A>G (p.Ile282Val)
|
rs753624426
|
|
NM_005045.4(RELN):c.8453G>T (p.Arg2818Met)
|
|
|
NM_005045.4(RELN):c.8470C>T (p.Pro2824Ser)
|
rs1224908089
|
|
NM_005045.4(RELN):c.8486G>A (p.Gly2829Glu)
|
|
|
NM_005045.4(RELN):c.8492C>T (p.Pro2831Leu)
|
|
|
NM_005045.4(RELN):c.8494G>C (p.Val2832Leu)
|
|
|
NM_005045.4(RELN):c.8495T>C (p.Val2832Ala)
|
rs1257978206
|
|
NM_005045.4(RELN):c.8500T>C (p.Phe2834Leu)
|
|
|
NM_005045.4(RELN):c.8516A>G (p.Lys2839Arg)
|
|
|
NM_005045.4(RELN):c.8534G>T (p.Trp2845Leu)
|
|
|
NM_005045.4(RELN):c.8537C>T (p.Ala2846Val)
|
|
|
NM_005045.4(RELN):c.8539A>G (p.Ile2847Val)
|
|
|
NM_005045.4(RELN):c.854T>C (p.Leu285Ser)
|
|
|
NM_005045.4(RELN):c.8551T>C (p.Tyr2851His)
|
|
|
NM_005045.4(RELN):c.8575A>G (p.Asn2859Asp)
|
rs1829002656
|
|
NM_005045.4(RELN):c.8578T>G (p.Cys2860Gly)
|
rs1829002405
|
|
NM_005045.4(RELN):c.857A>G (p.Tyr286Cys)
|
|
|
NM_005045.4(RELN):c.8590G>A (p.Gly2864Arg)
|
rs1456617471
|
|
NM_005045.4(RELN):c.859G>A (p.Ala287Thr)
|
|
|
NM_005045.4(RELN):c.859G>T (p.Ala287Ser)
|
|
|
NM_005045.4(RELN):c.8605G>C (p.Glu2869Gln)
|
|
|
NM_005045.4(RELN):c.8624C>G (p.Pro2875Arg)
|
rs761738403
|
|
NM_005045.4(RELN):c.862A>G (p.Lys288Glu)
|
rs1834077767
|
|
NM_005045.4(RELN):c.8651T>C (p.Leu2884Ser)
|
rs1829000128
|
|
NM_005045.4(RELN):c.8653A>T (p.Thr2885Ser)
|
|
|
NM_005045.4(RELN):c.8656C>T (p.His2886Tyr)
|
rs749712401
|
|
NM_005045.4(RELN):c.8657A>G (p.His2886Arg)
|
rs778109079
|
|
NM_005045.4(RELN):c.865A>G (p.Asn289Asp)
|
rs1562962642
|
|
NM_005045.4(RELN):c.8663T>C (p.Leu2888Pro)
|
|
|
NM_005045.4(RELN):c.8667+6G>A
|
|
|
NM_005045.4(RELN):c.8668A>G (p.Thr2890Ala)
|
|
|
NM_005045.4(RELN):c.8672T>A (p.Phe2891Tyr)
|
rs752516448
|
|
NM_005045.4(RELN):c.8673C>A (p.Phe2891Leu)
|
rs200157006
|
|
NM_005045.4(RELN):c.8683C>A (p.Arg2895Ser)
|
|
|
NM_005045.4(RELN):c.8683C>T (p.Arg2895Cys)
|
|
|
NM_005045.4(RELN):c.8684G>A (p.Arg2895His)
|
|
|
NM_005045.4(RELN):c.8710G>T (p.Asp2904Tyr)
|
rs1828900147
|
|
NM_005045.4(RELN):c.8716T>C (p.Trp2906Arg)
|
|
|
NM_005045.4(RELN):c.8723C>T (p.Ser2908Phe)
|
|
|
NM_005045.4(RELN):c.8732G>T (p.Gly2911Val)
|
|
|
NM_005045.4(RELN):c.8737A>G (p.Ser2913Gly)
|
rs2117025482
|
|
NM_005045.4(RELN):c.874G>C (p.Ala292Pro)
|
rs1478514178
|
|
NM_005045.4(RELN):c.875C>G (p.Ala292Gly)
|
rs138975479
|
|
NM_005045.4(RELN):c.8792G>A (p.Gly2931Glu)
|
rs1465519249
|
|
NM_005045.4(RELN):c.8809G>A (p.Ala2937Thr)
|
rs750491016
|
|
NM_005045.4(RELN):c.8810C>T (p.Ala2937Val)
|
rs765433534
|
|
NM_005045.4(RELN):c.8812G>A (p.Val2938Ile)
|
|
|
NM_005045.4(RELN):c.8827G>C (p.Asp2943His)
|
rs1828895929
|
|
NM_005045.4(RELN):c.883A>G (p.Ile295Val)
|
rs1834076706
|
|
NM_005045.4(RELN):c.8861G>A (p.Gly2954Glu)
|
|
|
NM_005045.4(RELN):c.8864G>A (p.Arg2955His)
|
|
|
NM_005045.4(RELN):c.8879ACA[1] (p.Asn2961del)
|
|
|
NM_005045.4(RELN):c.8888C>T (p.Thr2963Ile)
|
|
|
NM_005045.4(RELN):c.8912G>A (p.Arg2971Gln)
|
rs1562852978
|
|
NM_005045.4(RELN):c.8920G>A (p.Gly2974Ser)
|
|
|
NM_005045.4(RELN):c.8930T>C (p.Leu2977Ser)
|
|
|
NM_005045.4(RELN):c.8943C>A (p.Thr2981=)
|
rs199505446
|
|
NM_005045.4(RELN):c.8950+12G>A
|
|
|
NM_005045.4(RELN):c.8950+4T>A
|
|
|
NM_005045.4(RELN):c.8953A>G (p.Ile2985Val)
|
|
|
NM_005045.4(RELN):c.8957C>T (p.Thr2986Ile)
|
|
|
NM_005045.4(RELN):c.8962A>T (p.Thr2988Ser)
|
|
|
NM_005045.4(RELN):c.8966T>C (p.Leu2989Ser)
|
rs2117021480
|
|
NM_005045.4(RELN):c.8967G>T (p.Leu2989Phe)
|
rs1828853834
|
|
NM_005045.4(RELN):c.89A>G (p.Tyr30Cys)
|
|
|
NM_005045.4(RELN):c.8G>T (p.Arg3Leu)
|
rs2116860662
|
|
NM_005045.4(RELN):c.9005G>C (p.Arg3002Thr)
|
rs758922383
|
|
NM_005045.4(RELN):c.9018A>G (p.Ile3006Met)
|
|
|
NM_005045.4(RELN):c.9022C>T (p.Leu3008Phe)
|
rs2117021193
|
|
NM_005045.4(RELN):c.9030_9032del (p.Glu3010del)
|
rs1828851549
|
|
NM_005045.4(RELN):c.9053G>A (p.Arg3018Gln)
|
rs1828850685
|
|
NM_005045.4(RELN):c.9053G>T (p.Arg3018Leu)
|
rs1828850685
|
|
NM_005045.4(RELN):c.9095T>A (p.Val3032Glu)
|
|
|
NM_005045.4(RELN):c.9095T>C (p.Val3032Ala)
|
rs1828849563
|
|
NM_005045.4(RELN):c.9108G>A (p.Val3036=)
|
|
|
NM_005045.4(RELN):c.911C>T (p.Ser304Phe)
|
|
|
NM_005045.4(RELN):c.913A>G (p.Asn305Asp)
|
|
|
NM_005045.4(RELN):c.915T>A (p.Asn305Lys)
|
|
|
NM_005045.4(RELN):c.9172T>A (p.Leu3058Met)
|
rs2286261
|
|
NM_005045.4(RELN):c.917T>C (p.Val306Ala)
|
|
|
NM_005045.4(RELN):c.9194-10T>A
|
rs1242391167
|
|
NM_005045.4(RELN):c.9205C>A (p.His3069Asn)
|
rs1828826425
|
|
NM_005045.4(RELN):c.9230C>T (p.Pro3077Leu)
|
rs2117018752
|
|
NM_005045.4(RELN):c.9233A>G (p.Asn3078Ser)
|
|
|
NM_005045.4(RELN):c.9235G>T (p.Ala3079Ser)
|
|
|
NM_005045.4(RELN):c.9237_9248del (p.Val3080_Ala3083del)
|
rs2117018688
|
|
NM_005045.4(RELN):c.9248C>A (p.Ala3083Glu)
|
|
|
NM_005045.4(RELN):c.9248C>G (p.Ala3083Gly)
|
rs1828825003
|
|
NM_005045.4(RELN):c.9263A>G (p.Asn3088Ser)
|
|
|
NM_005045.4(RELN):c.9289A>G (p.Asn3097Asp)
|
rs2117018592
|
|
NM_005045.4(RELN):c.929T>A (p.Ile310Asn)
|
rs1351187654
|
|
NM_005045.4(RELN):c.92C>T (p.Pro31Leu)
|
rs759623259
|
|
NM_005045.4(RELN):c.930C>G (p.Ile310Met)
|
|
|
NM_005045.4(RELN):c.9319C>G (p.Leu3107Val)
|
rs764063544
|
|
NM_005045.4(RELN):c.932A>G (p.His311Arg)
|
rs766323203
|
|
NM_005045.4(RELN):c.9347C>T (p.Pro3116Leu)
|
rs1166597421
|
|
NM_005045.4(RELN):c.9357G>A (p.Met3119Ile)
|
|
|
NM_005045.4(RELN):c.9369+6G>A
|
|
|
NM_005045.4(RELN):c.9379G>T (p.Gly3127Cys)
|
|
|
NM_005045.4(RELN):c.9394T>G (p.Ser3132Ala)
|
rs2117007337
|
|
NM_005045.4(RELN):c.9398GTG[1] (p.Gly3134del)
|
|
|
NM_005045.4(RELN):c.9406C>G (p.Leu3136Val)
|
rs767535167
|
|
NM_005045.4(RELN):c.9419T>G (p.Met3140Arg)
|
|
|
NM_005045.4(RELN):c.941A>G (p.Tyr314Cys)
|
rs770001337
|
|
NM_005045.4(RELN):c.9439G>T (p.Ala3147Ser)
|
rs150485168
|
|
NM_005045.4(RELN):c.9442A>C (p.Arg3148=)
|
|
|
NM_005045.4(RELN):c.9443+3T>G
|
|
|
NM_005045.4(RELN):c.9443+4T>C
|
rs1828687122
|
|
NM_005045.4(RELN):c.9444A>G (p.Arg3148=)
|
rs1277733317
|
|
NM_005045.4(RELN):c.9448G>T (p.Asp3150Tyr)
|
|
|
NM_005045.4(RELN):c.9459G>C (p.Gln3153His)
|
rs1554362509
|
|
NM_005045.4(RELN):c.9460C>T (p.Leu3154Phe)
|
|
|
NM_005045.4(RELN):c.9497G>A (p.Ser3166Asn)
|
rs1828622359
|
|
NM_005045.4(RELN):c.9499A>T (p.Ile3167Phe)
|
rs2117002216
|
|
NM_005045.4(RELN):c.9505T>G (p.Cys3169Gly)
|
rs1394617861
|
|
NM_005045.4(RELN):c.9520T>C (p.Phe3174Leu)
|
|
|
NM_005045.4(RELN):c.9605+4G>C
|
rs1338699707
|
|
NM_005045.4(RELN):c.9605+6T>C
|
rs376881823
|
|
NM_005045.4(RELN):c.9606-3C>T
|
rs376550183
|
|
NM_005045.4(RELN):c.9611C>T (p.Thr3204Ile)
|
|
|
NM_005045.4(RELN):c.9615G>T (p.Gln3205His)
|
rs2116999262
|
|
NM_005045.4(RELN):c.9620G>A (p.Arg3207His)
|
rs992226248
|
|
NM_005045.4(RELN):c.9629A>G (p.Gln3210Arg)
|
|
|
NM_005045.4(RELN):c.9635G>A (p.Gly3212Glu)
|
|
|
NM_005045.4(RELN):c.9651G>T (p.Lys3217Asn)
|
|
|
NM_005045.4(RELN):c.9657C>G (p.Ser3219Arg)
|
rs1828587974
|
|
NM_005045.4(RELN):c.9659G>T (p.Trp3220Leu)
|
|
|
NM_005045.4(RELN):c.9665T>C (p.Ile3222Thr)
|
rs1828587696
|
|
NM_005045.4(RELN):c.9670C>T (p.His3224Tyr)
|
|
|
NM_005045.4(RELN):c.9688G>A (p.Ala3230Thr)
|
|
|
NM_005045.4(RELN):c.9689C>T (p.Ala3230Val)
|
rs1828586673
|
|
NM_005045.4(RELN):c.9709G>A (p.Gly3237Arg)
|
rs1584222460
|
|
NM_005045.4(RELN):c.9715G>A (p.Gly3239Arg)
|
rs1220775268
|
|
NM_005045.4(RELN):c.9763+3C>G
|
rs398124195
|
|
NM_005045.4(RELN):c.9764-5T>G
|
|
|
NM_005045.4(RELN):c.976T>C (p.Phe326Leu)
|
rs1009178108
|
|
NM_005045.4(RELN):c.9793C>A (p.Leu3265Ile)
|
|
|
NM_005045.4(RELN):c.9794T>C (p.Leu3265Pro)
|
|
|
NM_005045.4(RELN):c.9802T>C (p.Tyr3268His)
|
|
|
NM_005045.4(RELN):c.9818T>C (p.Phe3273Ser)
|
rs1828440525
|
|
NM_005045.4(RELN):c.9826G>T (p.Ala3276Ser)
|
|
|
NM_005045.4(RELN):c.982T>C (p.Trp328Arg)
|
rs2115780980
|
|
NM_005045.4(RELN):c.9840G>T (p.Glu3280Asp)
|
|
|
NM_005045.4(RELN):c.9857T>A (p.Ile3286Asn)
|
rs1828439294
|
|
NM_005045.4(RELN):c.986A>T (p.Lys329Met)
|
rs1834014175
|
|
NM_005045.4(RELN):c.9880G>A (p.Gly3294Ser)
|
|
|
NM_005045.4(RELN):c.9887G>A (p.Gly3296Glu)
|
|
|
NM_005045.4(RELN):c.994A>G (p.Asn332Asp)
|
|
|
NM_005045.4(RELN):c.9958A>C (p.Lys3320Gln)
|
|
|
NM_005045.4(RELN):c.9962C>G (p.Pro3321Arg)
|
rs1828434848
|
|
NM_005045.4(RELN):c.9973A>G (p.Thr3325Ala)
|
|
|
NM_005045.4(RELN):c.9979G>A (p.Ala3327Thr)
|
|
|
NM_005045.4(RELN):c.997C>G (p.Leu333Val)
|
rs1219491053
|
|
NM_005045.4(RELN):c.9983+5C>A
|
rs1210513203
|
|
NM_005045.4(RELN):c.9983+5C>T
|
|
|
NM_005045.4(RELN):c.9991A>G (p.Met3331Val)
|
rs1554360669
|
|
NM_005097.4(LGI1):c.1003A>G (p.Ile335Val)
|
rs2134026335
|
|
NM_005097.4(LGI1):c.1052G>T (p.Ser351Ile)
|
rs2134026390
|
|
NM_005097.4(LGI1):c.1057A>C (p.Lys353Gln)
|
rs2059987771
|
|
NM_005097.4(LGI1):c.1064G>C (p.Gly355Ala)
|
|
|
NM_005097.4(LGI1):c.1066T>C (p.Phe356Leu)
|
|
|
NM_005097.4(LGI1):c.1081A>C (p.Lys361Gln)
|
rs141334842
|
|
NM_005097.4(LGI1):c.1083A>G (p.Lys361=)
|
rs1337328821
|
|
NM_005097.4(LGI1):c.1097G>C (p.Gly366Ala)
|
rs2059988287
|
|
NM_005097.4(LGI1):c.1112A>G (p.Gln371Arg)
|
rs2059988505
|
|
NM_005097.4(LGI1):c.1171C>T (p.Pro391Ser)
|
|
|
NM_005097.4(LGI1):c.1172C>T (p.Pro391Leu)
|
|
|
NM_005097.4(LGI1):c.1176G>C (p.Gln392His)
|
|
|
NM_005097.4(LGI1):c.1187C>T (p.Thr396Met)
|
rs905576558
|
|
NM_005097.4(LGI1):c.1190C>T (p.Pro397Leu)
|
rs2134026607
|
|
NM_005097.4(LGI1):c.1219C>G (p.Arg407Gly)
|
rs759897282
|
|
NM_005097.4(LGI1):c.1219C>T (p.Arg407Cys)
|
|
|
NM_005097.4(LGI1):c.122A>G (p.Lys41Arg)
|
rs2059585290
|
|
NM_005097.4(LGI1):c.1279C>A (p.Pro427Thr)
|
rs2134026723
|
|
NM_005097.4(LGI1):c.1283A>G (p.Asn428Ser)
|
rs1589775967
|
|
NM_005097.4(LGI1):c.1300G>A (p.Ala434Thr)
|
rs758287710
|
|
NM_005097.4(LGI1):c.1306A>G (p.Lys436Glu)
|
rs2134026771
|
|
NM_005097.4(LGI1):c.1319T>C (p.Val440Ala)
|
|
|
NM_005097.4(LGI1):c.1325G>A (p.Gly442Glu)
|
|
|
NM_005097.4(LGI1):c.1336A>G (p.Ile446Val)
|
|
|
NM_005097.4(LGI1):c.1369G>A (p.Val457Ile)
|
rs2134026868
|
|
NM_005097.4(LGI1):c.1370T>C (p.Val457Ala)
|
rs1554907821
|
|
NM_005097.4(LGI1):c.1373T>C (p.Met458Thr)
|
|
|
NM_005097.4(LGI1):c.1381G>A (p.Gly461Arg)
|
|
|
NM_005097.4(LGI1):c.1388C>T (p.Ser463Phe)
|
|
|
NM_005097.4(LGI1):c.1396C>A (p.Gln466Lys)
|
|
|
NM_005097.4(LGI1):c.1403T>C (p.Ile468Thr)
|
|
|
NM_005097.4(LGI1):c.1432G>A (p.Val478Met)
|
|
|
NM_005097.4(LGI1):c.1433T>C (p.Val478Ala)
|
|
|
NM_005097.4(LGI1):c.143G>A (p.Cys48Tyr)
|
rs1554901937
|
|
NM_005097.4(LGI1):c.1474C>T (p.Leu492Phe)
|
|
|
NM_005097.4(LGI1):c.1487A>T (p.Tyr496Phe)
|
rs2134027009
|
|
NM_005097.4(LGI1):c.1517C>A (p.Ala506Glu)
|
rs1458989376
|
|
NM_005097.4(LGI1):c.1525G>A (p.Ala509Thr)
|
|
|
NM_005097.4(LGI1):c.1549T>A (p.Leu517Ile)
|
rs2059992788
|
|
NM_005097.4(LGI1):c.154A>G (p.Asn52Asp)
|
rs1216831495
|
|
NM_005097.4(LGI1):c.1552A>G (p.Asn518Asp)
|
rs887433567
|
|
NM_005097.4(LGI1):c.1580A>G (p.His527Arg)
|
rs2059993019
|
|
NM_005097.4(LGI1):c.1586C>T (p.Ser529Phe)
|
|
|
NM_005097.4(LGI1):c.1597C>T (p.Arg533Cys)
|
rs771178397
|
|
NM_005097.4(LGI1):c.1611T>G (p.Phe537Leu)
|
rs934608672
|
|
NM_005097.4(LGI1):c.1630A>G (p.Asn544Asp)
|
|
|
NM_005097.4(LGI1):c.163T>C (p.Cys55Arg)
|
|
|
NM_005097.4(LGI1):c.1652T>C (p.Val551Ala)
|
rs752672428
|
|
NM_005097.4(LGI1):c.1667G>A (p.Ser556Asn)
|
|
|
NM_005097.4(LGI1):c.191C>G (p.Thr64Ser)
|
rs373616721
|
|
NM_005097.4(LGI1):c.196C>G (p.Pro66Ala)
|
|
|
NM_005097.4(LGI1):c.206T>C (p.Val69Ala)
|
|
|
NM_005097.4(LGI1):c.215+7C>T
|
rs1589747145
|
|
NM_005097.4(LGI1):c.216-3C>T
|
rs1461103422
|
|
NM_005097.4(LGI1):c.221T>C (p.Phe74Ser)
|
|
|
NM_005097.4(LGI1):c.248C>T (p.Ser83Leu)
|
rs1279436195
|
|
NM_005097.4(LGI1):c.254G>A (p.Gly85Glu)
|
rs2059592627
|
|
NM_005097.4(LGI1):c.272C>T (p.Pro91Leu)
|
rs796052693
|
|
NM_005097.4(LGI1):c.308T>C (p.Phe103Ser)
|
rs2059804388
|
|
NM_005097.4(LGI1):c.313G>A (p.Val105Met)
|
|
|
NM_005097.4(LGI1):c.329C>T (p.Ala110Val)
|
|
|
NM_005097.4(LGI1):c.358T>G (p.Leu120Val)
|
rs796052697
|
|
NM_005097.4(LGI1):c.359+7A>C
|
|
|
NM_005097.4(LGI1):c.360-19A>G
|
|
|
NM_005097.4(LGI1):c.361T>A (p.Phe121Ile)
|
|
|
NM_005097.4(LGI1):c.374A>G (p.Asn125Ser)
|
|
|
NM_005097.4(LGI1):c.397C>T (p.His133Tyr)
|
|
|
NM_005097.4(LGI1):c.401C>T (p.Thr134Ile)
|
rs2059806034
|
|
NM_005097.4(LGI1):c.431+5G>A
|
rs2134001469
|
|
NM_005097.4(LGI1):c.432-3dup
|
rs1554906720
|
|
NM_005097.4(LGI1):c.432G>T (p.Leu144Phe)
|
rs920223409
|
|
NM_005097.4(LGI1):c.44C>G (p.Pro15Arg)
|
|
|
NM_005097.4(LGI1):c.460C>A (p.Leu154Ile)
|
rs2059923858
|
|
NM_005097.4(LGI1):c.464C>T (p.Pro155Leu)
|
rs1589771117
|
|
NM_005097.4(LGI1):c.47T>G (p.Leu16Arg)
|
rs1234339369
|
|
NM_005097.4(LGI1):c.496A>C (p.Thr166Pro)
|
|
|
NM_005097.4(LGI1):c.512G>C (p.Arg171Thr)
|
rs2134020795
|
|
NM_005097.4(LGI1):c.553G>A (p.Val185Met)
|
rs1235699165
|
|
NM_005097.4(LGI1):c.55A>G (p.Ile19Val)
|
rs2059584229
|
|
NM_005097.4(LGI1):c.572C>A (p.Thr191Asn)
|
|
|
NM_005097.4(LGI1):c.58G>A (p.Ala20Thr)
|
rs2059584327
|
|
NM_005097.4(LGI1):c.593T>C (p.Ile198Thr)
|
rs2134020872
|
|
NM_005097.4(LGI1):c.601G>A (p.Glu201Lys)
|
rs2134020895
|
|
NM_005097.4(LGI1):c.624G>T (p.Lys208Asn)
|
rs2059948178
|
|
NM_005097.4(LGI1):c.634A>G (p.Asn212Asp)
|
rs757629755
|
|
NM_005097.4(LGI1):c.639T>A (p.Ser213Arg)
|
|
|
NM_005097.4(LGI1):c.64T>A (p.Phe22Ile)
|
rs2133975421
|
|
NM_005097.4(LGI1):c.657_658delinsCC (p.Asp220His)
|
rs2134021029
|
|
NM_005097.4(LGI1):c.657_658inv (p.Asp220Asn)
|
|
|
NM_005097.4(LGI1):c.674-16T>G
|
|
|
NM_005097.4(LGI1):c.688C>G (p.Gln230Glu)
|
|
|
NM_005097.4(LGI1):c.691G>T (p.Asp231Tyr)
|
|
|
NM_005097.4(LGI1):c.716T>C (p.Ile239Thr)
|
|
|
NM_005097.4(LGI1):c.720C>A (p.Asp240Glu)
|
rs2059951179
|
|
NM_005097.4(LGI1):c.726T>G (p.Phe242Leu)
|
rs2059951247
|
|
NM_005097.4(LGI1):c.73C>T (p.Leu25Phe)
|
|
|
NM_005097.4(LGI1):c.742_743delinsAT (p.Glu248Met)
|
|
|
NM_005097.4(LGI1):c.749T>G (p.Val250Gly)
|
|
|
NM_005097.4(LGI1):c.757G>T (p.Ala253Ser)
|
|
|
NM_005097.4(LGI1):c.758C>T (p.Ala253Val)
|
|
|
NM_005097.4(LGI1):c.817C>T (p.Arg273Trp)
|
rs760376686
|
|
NM_005097.4(LGI1):c.818G>A (p.Arg273Gln)
|
rs750249658
|
|
NM_005097.4(LGI1):c.821A>G (p.Asn274Ser)
|
|
|
NM_005097.4(LGI1):c.827ACA[1] (p.Asn277del)
|
|
|
NM_005097.4(LGI1):c.828C>G (p.Asp276Glu)
|
|
|
NM_005097.4(LGI1):c.835A>G (p.Thr279Ala)
|
rs752003436
|
|
NM_005097.4(LGI1):c.838+3A>G
|
rs781205119
|
|
NM_005097.4(LGI1):c.83C>T (p.Ala28Val)
|
|
|
NM_005097.4(LGI1):c.853G>A (p.Val285Ile)
|
rs944813713
|
|
NM_005097.4(LGI1):c.853G>C (p.Val285Leu)
|
rs944813713
|
|
NM_005097.4(LGI1):c.862C>T (p.Pro288Ser)
|
rs2059985791
|
|
NM_005097.4(LGI1):c.865A>G (p.Ile289Val)
|
|
|
NM_005097.4(LGI1):c.882G>C (p.Gln294His)
|
|
|
NM_005097.4(LGI1):c.907T>C (p.Phe303Leu)
|
|
|
NM_005097.4(LGI1):c.90G>C (p.Leu30Phe)
|
rs1178032111
|
|
NM_005097.4(LGI1):c.913G>A (p.Gly305Ser)
|
|
|
NM_005097.4(LGI1):c.932G>A (p.Arg311Gln)
|
|
|
NM_005097.4(LGI1):c.941T>A (p.Phe314Tyr)
|
rs2134026264
|
|
NM_005097.4(LGI1):c.992A>C (p.Lys331Thr)
|
rs2059987155
|
|
NM_005506.4(SCARB2):c.1034C>A (p.Ala345Glu)
|
|
|
NM_005506.4(SCARB2):c.1043G>A (p.Arg348Lys)
|
rs1435706864
|
|
NM_005506.4(SCARB2):c.105G>T (p.Gln35His)
|
|
|
NM_005506.4(SCARB2):c.1066A>C (p.Met356Leu)
|
|
|
NM_005506.4(SCARB2):c.1097T>C (p.Phe366Ser)
|
rs1374602411
|
|
NM_005506.4(SCARB2):c.1114-3C>T
|
rs1560705500
|
|
NM_005506.4(SCARB2):c.1118C>T (p.Thr373Ile)
|
rs1732061373
|
|
NM_005506.4(SCARB2):c.1142A>G (p.Lys381Arg)
|
|
|
NM_005506.4(SCARB2):c.117+3G>A
|
rs1733107604
|
|
NM_005506.4(SCARB2):c.117+6G>C
|
rs2109974158
|
|
NM_005506.4(SCARB2):c.1172A>C (p.Lys391Thr)
|
rs1732060256
|
|
NM_005506.4(SCARB2):c.1188-3T>C
|
rs1251392642
|
|
NM_005506.4(SCARB2):c.11G>A (p.Cys4Tyr)
|
rs1196467385
|
|
NM_005506.4(SCARB2):c.1201A>G (p.Ile401Val)
|
rs1405139421
|
|
NM_005506.4(SCARB2):c.1229A>T (p.Tyr410Phe)
|
rs777270813
|
|
NM_005506.4(SCARB2):c.1249A>T (p.Ile417Phe)
|
|
|
NM_005506.4(SCARB2):c.1283T>C (p.Met428Thr)
|
rs2109931937
|
|
NM_005506.4(SCARB2):c.1307C>T (p.Thr436Ile)
|
rs1731937544
|
|
NM_005506.4(SCARB2):c.1312A>G (p.Ile438Val)
|
|
|
NM_005506.4(SCARB2):c.1313T>C (p.Ile438Thr)
|
|
|
NM_005506.4(SCARB2):c.1319A>G (p.Tyr440Cys)
|
|
|
NM_005506.4(SCARB2):c.1365G>C (p.Trp455Cys)
|
rs995674389
|
|
NM_005506.4(SCARB2):c.1369G>A (p.Ala457Thr)
|
|
|
NM_005506.4(SCARB2):c.1373G>T (p.Cys458Phe)
|
rs1578712032
|
|
NM_005506.4(SCARB2):c.1378G>A (p.Gly460Arg)
|
|
|
NM_005506.4(SCARB2):c.1393G>A (p.Asp465Asn)
|
rs1238888097
|
|
NM_005506.4(SCARB2):c.1399-11C>G
|
rs1392686046
|
|
NM_005506.4(SCARB2):c.140C>T (p.Thr47Ile)
|
rs1732700794
|
|
NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val)
|
rs755903502
|
|
NM_005506.4(SCARB2):c.1430G>A (p.Arg477Gln)
|
rs1480481844
|
|
NM_005506.4(SCARB2):c.1432del (p.Thr478fs)
|
rs756112626
|
|
NM_005506.4(SCARB2):c.1433C>A (p.Thr478Asn)
|
rs2109930564
|
|
NM_005506.4(SCARB2):c.160G>A (p.Glu54Lys)
|
|
|
NM_005506.4(SCARB2):c.166C>T (p.Pro56Ser)
|
rs2109960897
|
|
NM_005506.4(SCARB2):c.172C>G (p.Leu58Val)
|
|
|
NM_005506.4(SCARB2):c.178G>T (p.Val60Leu)
|
rs1287892295
|
|
NM_005506.4(SCARB2):c.212A>G (p.Asn71Ser)
|
|
|
NM_005506.4(SCARB2):c.223A>T (p.Ile75Phe)
|
rs1560716099
|
|
NM_005506.4(SCARB2):c.231A>T (p.Arg77Ser)
|
|
|
NM_005506.4(SCARB2):c.232G>A (p.Gly78Arg)
|
|
|
NM_005506.4(SCARB2):c.237G>C (p.Glu79Asp)
|
rs1348033527
|
|
NM_005506.4(SCARB2):c.245G>T (p.Arg82Leu)
|
rs1422181706
|
|
NM_005506.4(SCARB2):c.251A>G (p.Glu84Gly)
|
|
|
NM_005506.4(SCARB2):c.256G>A (p.Val86Met)
|
rs1732697033
|
|
NM_005506.4(SCARB2):c.268A>C (p.Thr90Pro)
|
rs1732696609
|
|
NM_005506.4(SCARB2):c.299T>C (p.Ile100Thr)
|
rs2109948743
|
|
NM_005506.4(SCARB2):c.314A>T (p.Asn105Ile)
|
rs1732373905
|
|
NM_005506.4(SCARB2):c.328T>C (p.Ser110Pro)
|
|
|
NM_005506.4(SCARB2):c.343A>C (p.Lys115Gln)
|
rs1732373432
|
|
NM_005506.4(SCARB2):c.346G>A (p.Ala116Thr)
|
|
|
NM_005506.4(SCARB2):c.346G>T (p.Ala116Ser)
|
rs1732373270
|
|
NM_005506.4(SCARB2):c.353T>G (p.Val118Gly)
|
|
|
NM_005506.4(SCARB2):c.365A>T (p.Asp122Val)
|
|
|
NM_005506.4(SCARB2):c.366C>G (p.Asp122Glu)
|
rs2109948680
|
|
NM_005506.4(SCARB2):c.381C>G (p.Asp127Glu)
|
rs1553948511
|
|
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser)
|
rs143558324
|
|
NM_005506.4(SCARB2):c.424-19A>G
|
|
|
NM_005506.4(SCARB2):c.440C>T (p.Ser147Phe)
|
|
|
NM_005506.4(SCARB2):c.443A>G (p.Gln148Arg)
|
rs1560710284
|
|
NM_005506.4(SCARB2):c.451T>A (p.Phe151Ile)
|
rs1732338247
|
|
NM_005506.4(SCARB2):c.451T>C (p.Phe151Leu)
|
rs1732338247
|
|
NM_005506.4(SCARB2):c.465C>G (p.Ile155Met)
|
|
|
NM_005506.4(SCARB2):c.488A>G (p.Tyr163Cys)
|
rs1326652823
|
|
NM_005506.4(SCARB2):c.508A>T (p.Thr170Ser)
|
rs2109947296
|
|
NM_005506.4(SCARB2):c.511C>T (p.His171Tyr)
|
rs756489019
|
|
NM_005506.4(SCARB2):c.523G>C (p.Glu175Gln)
|
rs751711805
|
|
NM_005506.4(SCARB2):c.527T>C (p.Leu176Ser)
|
|
|
NM_005506.4(SCARB2):c.541A>C (p.Lys181Gln)
|
|
|
NM_005506.4(SCARB2):c.55_75del (p.Thr19_Val25del)
|
rs1401788267
|
|
NM_005506.4(SCARB2):c.584T>G (p.Ile195Ser)
|
rs2109947161
|
|
NM_005506.4(SCARB2):c.605T>C (p.Phe202Ser)
|
rs768181886
|
|
NM_005506.4(SCARB2):c.638A>C (p.Tyr213Ser)
|
rs751953388
|
|
NM_005506.4(SCARB2):c.65C>T (p.Thr22Met)
|
rs1733110733
|
|
NM_005506.4(SCARB2):c.705-3T>C
|
|
|
NM_005506.4(SCARB2):c.705G>A (p.Thr235=)
|
rs2109943699
|
|
NM_005506.4(SCARB2):c.713A>G (p.Asp238Gly)
|
rs1732242578
|
|
NM_005506.4(SCARB2):c.727G>A (p.Asp243Asn)
|
rs751498101
|
|
NM_005506.4(SCARB2):c.72G>A (p.Leu24=)
|
rs2109974267
|
|
NM_005506.4(SCARB2):c.741_743del (p.Met247del)
|
rs1732241629
|
|
NM_005506.4(SCARB2):c.752C>T (p.Thr251Ile)
|
rs1553948166
|
|
NM_005506.4(SCARB2):c.764C>T (p.Ser255Phe)
|
rs1211983888
|
|
NM_005506.4(SCARB2):c.781A>G (p.Thr261Ala)
|
rs1732241039
|
|
NM_005506.4(SCARB2):c.802G>A (p.Val268Ile)
|
|
|
NM_005506.4(SCARB2):c.833A>G (p.Tyr278Cys)
|
rs774730087
|
|
NM_005506.4(SCARB2):c.839C>G (p.Thr280Ser)
|
rs768765087
|
|
NM_005506.4(SCARB2):c.854A>G (p.Glu285Gly)
|
|
|
NM_005506.4(SCARB2):c.869T>A (p.Leu290Gln)
|
rs1553948019
|
|
NM_005506.4(SCARB2):c.881G>A (p.Arg294Gln)
|
rs752667549
|
|
NM_005506.4(SCARB2):c.889G>C (p.Val297Leu)
|
|
|
NM_005506.4(SCARB2):c.8G>A (p.Arg3Gln)
|
rs937537878
|
|
NM_005506.4(SCARB2):c.901A>G (p.Ile301Val)
|
rs2109941946
|
|
NM_005506.4(SCARB2):c.903A>G (p.Ile301Met)
|
rs1485497925
|
|
NM_005506.4(SCARB2):c.910A>G (p.Asn304Asp)
|
rs1732197179
|
|
NM_005506.4(SCARB2):c.951C>G (p.Asn317Lys)
|
rs1732195814
|
|
NM_005506.4(SCARB2):c.962C>T (p.Ser321Leu)
|
rs1553947990
|
|
NM_005506.4(SCARB2):c.967G>A (p.Val323Ile)
|
rs2109941801
|
|
NM_005506.4(SCARB2):c.970C>G (p.Leu324Val)
|
rs1732195035
|
|
NM_005506.4(SCARB2):c.986G>A (p.Cys329Tyr)
|
|
|
NM_005506.4(SCARB2):c.998C>T (p.Ala333Val)
|
rs2109937871
|
|
NM_005670.4(EPM2A):c.101C>A (p.Pro34Gln)
|
rs1776814515
|
|
NM_005670.4(EPM2A):c.101C>T (p.Pro34Leu)
|
|
|
NM_005670.4(EPM2A):c.112_153dup (p.Val38_Ala51dup)
|
rs1339413651
|
|
NM_005670.4(EPM2A):c.118C>A (p.Leu40Met)
|
|
|
NM_005670.4(EPM2A):c.11G>A (p.Arg4His)
|
|
|
NM_005670.4(EPM2A):c.125C>T (p.Pro42Leu)
|
|
|
NM_005670.4(EPM2A):c.130G>A (p.Gly44Ser)
|
|
|
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)
|
rs374338349
|
|
NM_005670.4(EPM2A):c.141G>A (p.Ala47=)
|
rs1363081086
|
|
NM_005670.4(EPM2A):c.148G>T (p.Gly50Trp)
|
|
|
NM_005670.4(EPM2A):c.149G>A (p.Gly50Glu)
|
rs796052422
|
|
NM_005670.4(EPM2A):c.14T>G (p.Phe5Cys)
|
rs2128650105
|
|
NM_005670.4(EPM2A):c.155T>G (p.Leu52Arg)
|
|
|
NM_005670.4(EPM2A):c.158C>T (p.Ala53Val)
|
rs1776804791
|
|
NM_005670.4(EPM2A):c.158_159inv (p.Ala53Gly)
|
|
|
NM_005670.4(EPM2A):c.164A>C (p.Gln55Pro)
|
rs1776803315
|
|
NM_005670.4(EPM2A):c.166G>C (p.Glu56Gln)
|
rs796052424
|
|
NM_005670.4(EPM2A):c.169C>A (p.Pro57Thr)
|
rs1308438113
|
|
NM_005670.4(EPM2A):c.16G>C (p.Gly6Arg)
|
rs1776824378
|
|
NM_005670.4(EPM2A):c.194_214dup (p.Ala71_Ala72insGluLeuAlaAlaGluGluAla)
|
|
|
NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly)
|
rs1583156284
|
|
NM_005670.4(EPM2A):c.211_231dup (p.Ala71_Glu77dup)
|
rs2128649485
|
|
NM_005670.4(EPM2A):c.212C>T (p.Ala71Val)
|
rs1263035227
|
|
NM_005670.4(EPM2A):c.217C>G (p.Gln73Glu)
|
rs1165179833
|
|
NM_005670.4(EPM2A):c.226G>C (p.Ala76Pro)
|
rs1333556119
|
|
NM_005670.4(EPM2A):c.22G>A (p.Val8Met)
|
rs1326700627
|
|
NM_005670.4(EPM2A):c.235G>T (p.Gly79Cys)
|
rs374826256
|
|
NM_005670.4(EPM2A):c.248C>T (p.Thr83Met)
|
rs780634800
|
|
NM_005670.4(EPM2A):c.275A>G (p.Glu92Gly)
|
rs1776788119
|
|
NM_005670.4(EPM2A):c.281G>A (p.Gly94Glu)
|
rs2128649334
|
|
NM_005670.4(EPM2A):c.298_299delinsTT (p.Glu100Leu)
|
|
|
NM_005670.4(EPM2A):c.301+5T>G
|
rs776655093
|
|
NM_005670.4(EPM2A):c.31C>T (p.Pro11Ser)
|
rs1583157330
|
|
NM_005670.4(EPM2A):c.347A>G (p.Asn116Ser)
|
|
|
NM_005670.4(EPM2A):c.34G>A (p.Ala12Thr)
|
rs1776822048
|
|
NM_005670.4(EPM2A):c.37G>A (p.Val13Met)
|
rs567454946
|
|
NM_005670.4(EPM2A):c.37G>C (p.Val13Leu)
|
rs567454946
|
|
NM_005670.4(EPM2A):c.394G>T (p.Ala132Ser)
|
rs1054138980
|
|
NM_005670.4(EPM2A):c.406A>G (p.Thr136Ala)
|
rs746523076
|
|
NM_005670.4(EPM2A):c.424A>G (p.Thr142Ala)
|
|
|
NM_005670.4(EPM2A):c.447T>G (p.Ile149Met)
|
rs2128614175
|
|
NM_005670.4(EPM2A):c.452G>A (p.Gly151Asp)
|
rs1173939028
|
|
NM_005670.4(EPM2A):c.464T>C (p.Met155Thr)
|
rs1199898061
|
|
NM_005670.4(EPM2A):c.476+5A>G
|
rs1780888090
|
|
NM_005670.4(EPM2A):c.4C>A (p.Arg2Ser)
|
|
|
NM_005670.4(EPM2A):c.4C>T (p.Arg2Cys)
|
rs796052431
|
|
NM_005670.4(EPM2A):c.4_39del (p.Arg2_Val13del)
|
rs1583157261
|
|
NM_005670.4(EPM2A):c.505T>C (p.Cys169Arg)
|
rs1776588357
|
|
NM_005670.4(EPM2A):c.539T>C (p.Leu180Pro)
|
rs1490039469
|
|
NM_005670.4(EPM2A):c.53C>A (p.Pro18Gln)
|
rs1422428137
|
|
NM_005670.4(EPM2A):c.55G>A (p.Glu19Lys)
|
rs2128649959
|
|
NM_005670.4(EPM2A):c.560C>G (p.Thr187Arg)
|
rs1582935082
|
|
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile)
|
rs1582935082
|
|
NM_005670.4(EPM2A):c.568A>G (p.Met190Val)
|
|
|
NM_005670.4(EPM2A):c.575T>C (p.Phe192Ser)
|
rs2128562619
|
|
NM_005670.4(EPM2A):c.58C>G (p.Leu20Val)
|
|
|
NM_005670.4(EPM2A):c.59T>A (p.Leu20Gln)
|
rs2128649947
|
|
NM_005670.4(EPM2A):c.634A>G (p.Met212Val)
|
rs1562424241
|
|
NM_005670.4(EPM2A):c.636G>A (p.Met212Ile)
|
rs1776570738
|
|
NM_005670.4(EPM2A):c.639_640delinsAA (p.Pro214Thr)
|
rs1554256996
|
|
NM_005670.4(EPM2A):c.640C>G (p.Pro214Ala)
|
rs1278542056
|
|
NM_005670.4(EPM2A):c.64G>C (p.Val22Leu)
|
rs1776818861
|
|
NM_005670.4(EPM2A):c.651G>A (p.Met217Ile)
|
rs2128562483
|
|
NM_005670.4(EPM2A):c.65T>A (p.Val22Glu)
|
rs1776818676
|
|
NM_005670.4(EPM2A):c.67G>C (p.Val23Leu)
|
rs1060503233
|
|
NM_005670.4(EPM2A):c.698C>T (p.Thr233Ile)
|
|
|
NM_005670.4(EPM2A):c.701C>A (p.Pro234Gln)
|
rs1554256976
|
|
NM_005670.4(EPM2A):c.706A>G (p.Met236Val)
|
rs906096146
|
|
NM_005670.4(EPM2A):c.707T>C (p.Met236Thr)
|
rs1776560298
|
|
NM_005670.4(EPM2A):c.70G>C (p.Gly24Arg)
|
rs1554269710
|
|
NM_005670.4(EPM2A):c.716A>T (p.Glu239Val)
|
|
|
NM_005670.4(EPM2A):c.721C>G (p.Arg241Gly)
|
rs104893950
|
|
NM_005670.4(EPM2A):c.731T>G (p.Met244Arg)
|
rs749563452
|
|
NM_005670.4(EPM2A):c.758A>G (p.His253Arg)
|
rs749937487
|
|
NM_005670.4(EPM2A):c.767T>C (p.Leu256Pro)
|
rs2128556216
|
|
NM_005670.4(EPM2A):c.770A>G (p.Glu257Gly)
|
rs1351520468
|
|
NM_005670.4(EPM2A):c.77G>T (p.Arg26Leu)
|
rs796052433
|
|
NM_005670.4(EPM2A):c.784G>A (p.Val262Met)
|
rs1582913143
|
|
NM_005670.4(EPM2A):c.790G>A (p.Val264Met)
|
|
|
NM_005670.4(EPM2A):c.797G>C (p.Cys266Ser)
|
rs778069029
|
|
NM_005670.4(EPM2A):c.800A>G (p.Asn267Ser)
|
rs1220880720
|
|
NM_005670.4(EPM2A):c.82G>A (p.Glu28Lys)
|
rs1776816199
|
|
NM_005670.4(EPM2A):c.841C>T (p.Leu281Phe)
|
rs367551823
|
|
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys)
|
rs897601301
|
|
NM_005670.4(EPM2A):c.86T>C (p.Leu29Pro)
|
rs2128649883
|
|
NM_005670.4(EPM2A):c.874G>T (p.Val292Leu)
|
|
|
NM_005670.4(EPM2A):c.901C>A (p.Pro301Thr)
|
rs1050606699
|
|
NM_005670.4(EPM2A):c.902C>T (p.Pro301Leu)
|
rs796052428
|
|
NM_005670.4(EPM2A):c.911A>G (p.Tyr304Cys)
|
|
|
NM_005670.4(EPM2A):c.92G>A (p.Arg31His)
|
rs1562535536
|
|
NM_005670.4(EPM2A):c.94T>A (p.Trp32Arg)
|
rs104893955
|
|
NM_005670.4(EPM2A):c.957G>C (p.Gln319His)
|
|
|
NM_005670.4(EPM2A):c.962T>G (p.Phe321Cys)
|
rs772620616
|
|
NM_005670.4(EPM2A):c.977C>T (p.Ser326Phe)
|
rs1404589826
|
|
NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro)
|
rs768781694
|
|
NM_005670.4(EPM2A):c.981T>G (p.Ser327=)
|
rs2128555915
|
|
NM_005670.4(EPM2A):c.994_*12del (p.Ter332del)
|
|
|
NM_014467.3(SRPX2):c.1046C>G (p.Ala349Gly)
|
rs2083208096
|
|
NM_014467.3(SRPX2):c.1129A>G (p.Thr377Ala)
|
rs1355036934
|
|
NM_014467.3(SRPX2):c.112_163+10dup
|
rs2083150642
|
|
NM_014467.3(SRPX2):c.1143G>A (p.Leu381=)
|
rs2083214837
|
|
NM_014467.3(SRPX2):c.117A>C (p.Glu39Asp)
|
rs762469858
|
|
NM_014467.3(SRPX2):c.1313A>T (p.Glu438Val)
|
rs1047926579
|
|
NM_014467.3(SRPX2):c.1396T>G (p.Ter466Gly)
|
|
|
NM_014467.3(SRPX2):c.17C>T (p.Thr6Ile)
|
rs1556010625
|
|
NM_014467.3(SRPX2):c.586C>A (p.Pro196Thr)
|
rs1398023125
|
|
NM_014467.3(SRPX2):c.605G>A (p.Arg202Gln)
|
rs200784551
|
|
NM_014467.3(SRPX2):c.656C>G (p.Thr219Ser)
|
rs924461236
|
|
NM_014467.3(SRPX2):c.706G>C (p.Glu236Gln)
|
rs754500495
|
|
NM_014467.3(SRPX2):c.725C>G (p.Thr242Ser)
|
rs2083202209
|
|
NM_015973.3(GAL):c.82del
|
rs1594273885
|
|
NM_015973.5(GAL):c.16G>A (p.Ala6Thr)
|
rs760551954
|
|
NM_015973.5(GAL):c.202C>T (p.Pro68Ser)
|
rs1945870960
|
|
NM_015973.5(GAL):c.223+3G>C
|
rs202155593
|
|
NM_015973.5(GAL):c.263G>T (p.Arg88Leu)
|
rs778530092
|
|
NM_015973.5(GAL):c.311C>T (p.Ala104Val)
|
rs1186237607
|
|
NM_015973.5(GAL):c.316G>A (p.Asp106Asn)
|
rs375918368
|
|
NM_015973.5(GAL):c.335C>G (p.Pro112Arg)
|
rs1945899167
|
|
NM_015973.5(GAL):c.37C>T (p.Leu13Phe)
|
rs956379887
|
|
NM_015973.5(GAL):c.55T>C (p.Ser19Pro)
|
rs746008445
|
|
NM_015973.5(GAL):c.73_81+37del
|
rs1297993483
|
|
NM_015973.5(GAL):c.7C>T (p.Arg3Ter)
|
rs578193461
|
|
NM_015973.5(GAL):c.91A>G (p.Lys31Glu)
|
rs1945844204
|
|
NM_018100.4(EFHC1):c.1004T>G (p.Leu335Arg)
|
rs1231287887
|
|
NM_018100.4(EFHC1):c.1061A>G (p.Tyr354Cys)
|
rs533695444
|
|
NM_018100.4(EFHC1):c.1088A>G (p.Asp363Gly)
|
rs1765271296
|
|
NM_018100.4(EFHC1):c.1091_1092insGGTATTACCTGATTTGGTAATTTGGTAATTACTGATTTGGTAATTTGGAATT (p.Leu364_Pro365insValLeuProAspLeuValIleTrpTer)
|
rs1765271672
|
|
NM_018100.4(EFHC1):c.1117G>T (p.Glu373Ter)
|
rs1765273374
|
|
NM_018100.4(EFHC1):c.1144C>T (p.Pro382Ser)
|
rs566874147
|
|
NM_018100.4(EFHC1):c.1171del (p.Glu391fs)
|
rs1218368055
|
|
NM_018100.4(EFHC1):c.1180G>A (p.Ala394Thr)
|
rs1562458726
|
|
NM_018100.4(EFHC1):c.1221dup (p.Asp408fs)
|
rs754483740
|
|
NM_018100.4(EFHC1):c.1228A>G (p.Ile410Val)
|
rs1765386430
|
|
NM_018100.4(EFHC1):c.1270G>A (p.Ala424Thr)
|
rs796052418
|
|
NM_018100.4(EFHC1):c.1286C>T (p.Pro429Leu)
|
rs1765607722
|
|
NM_018100.4(EFHC1):c.1300A>G (p.Lys434Glu)
|
rs771316611
|
|
NM_018100.4(EFHC1):c.1309A>G (p.Arg437Gly)
|
rs776277918
|
|
NM_018100.4(EFHC1):c.134T>C (p.Val45Ala)
|
rs1764249661
|
|
NM_018100.4(EFHC1):c.1355T>C (p.Phe452Ser)
|
rs1765610593
|
|
NM_018100.4(EFHC1):c.1363C>T (p.Pro455Ser)
|
rs1765610823
|
|
NM_018100.4(EFHC1):c.1370G>A (p.Arg457His)
|
rs369468811
|
|
NM_018100.4(EFHC1):c.1391G>C (p.Gly464Ala)
|
rs2114023582
|
|
NM_018100.4(EFHC1):c.145G>A (p.Gly49Arg)
|
rs760025678
|
|
NM_018100.4(EFHC1):c.1546A>C (p.Met516Leu)
|
rs768684304
|
|
NM_018100.4(EFHC1):c.1548G>A (p.Met516Ile)
|
rs973650043
|
|
NM_018100.4(EFHC1):c.1549G>T (p.Glu517Ter)
|
rs1765630267
|
|
NM_018100.4(EFHC1):c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer)
|
rs1554261668
|
|
NM_018100.4(EFHC1):c.1562C>G (p.Ala521Gly)
|
rs766675010
|
|
NM_018100.4(EFHC1):c.1574C>T (p.Pro525Leu)
|
rs1433410236
|
|
NM_018100.4(EFHC1):c.1606C>T (p.Arg536Ter)
|
rs779990464
|
|
NM_018100.4(EFHC1):c.1607G>A (p.Arg536Gln)
|
rs867304706
|
|
NM_018100.4(EFHC1):c.1607G>C (p.Arg536Pro)
|
rs867304706
|
|
NM_018100.4(EFHC1):c.1618G>A (p.Ala540Thr)
|
rs1765633745
|
|
NM_018100.4(EFHC1):c.1640+3G>T
|
rs1581847690
|
|
NM_018100.4(EFHC1):c.1641-6C>G
|
rs1554262183
|
|
NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys)
|
rs928396576
|
|
NM_018100.4(EFHC1):c.1663G>A (p.Gly555Ser)
|
rs1581854254
|
|
NM_018100.4(EFHC1):c.1666G>A (p.Val556Met)
|
rs772265107
|
|
NM_018100.4(EFHC1):c.1699C>T (p.Gln567Ter)
|
rs1765867667
|
|
NM_018100.4(EFHC1):c.1739G>C (p.Arg580Pro)
|
rs752701116
|
|
NM_018100.4(EFHC1):c.1776A>G (p.Gly592=)
|
rs1581854375
|
|
NM_018100.4(EFHC1):c.1786A>G (p.Arg596Gly)
|
rs1765870228
|
|
NM_018100.4(EFHC1):c.1863G>A (p.Met621Ile)
|
rs2114039449
|
|
NM_018100.4(EFHC1):c.1879G>A (p.Gly627Ser)
|
rs758464930
|
|
NM_018100.4(EFHC1):c.1886T>G (p.Ile629Ser)
|
rs199604518
|
|
NM_018100.4(EFHC1):c.194T>C (p.Leu65Ser)
|
rs757990962
|
|
NM_018100.4(EFHC1):c.206C>T (p.Ala69Val)
|
rs1764251712
|
|
NM_018100.4(EFHC1):c.21T>G (p.His7Gln)
|
rs775530837
|
|
NM_018100.4(EFHC1):c.226C>T (p.Gln76Ter)
|
rs11552772
|
|
NM_018100.4(EFHC1):c.227A>G (p.Gln76Arg)
|
rs1764252445
|
|
NM_018100.4(EFHC1):c.237A>T (p.Gln79His)
|
rs2113966975
|
|
NM_018100.4(EFHC1):c.241C>T (p.Pro81Ser)
|
rs1562442253
|
|
NM_018100.4(EFHC1):c.277G>C (p.Asp93His)
|
rs1764254615
|
|
NM_018100.4(EFHC1):c.28C>G (p.Pro10Ala)
|
rs1764162488
|
|
NM_018100.4(EFHC1):c.364_369del (p.Ile122_Tyr123del)
|
rs1764582038
|
|
NM_018100.4(EFHC1):c.371A>G (p.Tyr124Cys)
|
rs757440981
|
|
NM_018100.4(EFHC1):c.379G>C (p.Glu127Gln)
|
rs1554258778
|
|
NM_018100.4(EFHC1):c.388A>G (p.Ser130Gly)
|
rs1481620865
|
|
NM_018100.4(EFHC1):c.40G>A (p.Gly14Ser)
|
rs1554257650
|
|
NM_018100.4(EFHC1):c.452G>T (p.Arg151Leu)
|
rs191656603
|
|
NM_018100.4(EFHC1):c.490C>T (p.His164Tyr)
|
rs995402027
|
|
NM_018100.4(EFHC1):c.530A>T (p.Tyr177Phe)
|
rs1764588785
|
|
NM_018100.4(EFHC1):c.558_559del (p.Cys186_Asp187delinsTer)
|
rs1562447137
|
|
NM_018100.4(EFHC1):c.595A>G (p.Ile199Val)
|
rs759793242
|
|
NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln)
|
rs767704811
|
|
NM_018100.4(EFHC1):c.602T>G (p.Leu201Ter)
|
rs1764941998
|
|
NM_018100.4(EFHC1):c.637A>G (p.Thr213Ala)
|
rs201379297
|
|
NM_018100.4(EFHC1):c.666_674delinsAAG (p.Tyr223_Thr225delinsSer)
|
rs1554259746
|
|
NM_018100.4(EFHC1):c.682_692del (p.Asp228fs)
|
rs775980459
|
|
NM_018100.4(EFHC1):c.710C>A (p.Thr237Asn)
|
rs765821468
|
|
NM_018100.4(EFHC1):c.749A>T (p.Asp250Val)
|
rs1562453181
|
|
NM_018100.4(EFHC1):c.755C>G (p.Thr252Arg)
|
rs747450415
|
|
NM_018100.4(EFHC1):c.757G>A (p.Asp253Asn)
|
rs137852778
|
|
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys)
|
rs886061629
|
|
NM_018100.4(EFHC1):c.810T>G (p.Asp270Glu)
|
rs796052413
|
|
NM_018100.4(EFHC1):c.847G>A (p.Asp283Asn)
|
rs1284999394
|
|
NM_018100.4(EFHC1):c.879C>G (p.Asn293Lys)
|
rs1562453330
|
|
NM_018100.4(EFHC1):c.915A>G (p.Ala305=)
|
rs1060503381
|
|
NM_020822.3(KCNT1):c.1003A>T (p.Ile335Phe)
|
|
|
NM_020822.3(KCNT1):c.1009G>A (p.Val337Met)
|
|
|
NM_020822.3(KCNT1):c.1011G>A (p.Val337=)
|
rs1831789283
|
|
NM_020822.3(KCNT1):c.1018G>A (p.Val340Met)
|
rs558837964
|
|
NM_020822.3(KCNT1):c.1035+1G>A
|
rs778538243
|
|
NM_020822.3(KCNT1):c.1036-3C>T
|
|
|
NM_020822.3(KCNT1):c.1039G>A (p.Glu347Lys)
|
|
|
NM_020822.3(KCNT1):c.103G>A (p.Ala35Thr)
|
|
|
NM_020822.3(KCNT1):c.1048G>A (p.Val350Ile)
|
|
|
NM_020822.3(KCNT1):c.104C>A (p.Ala35Asp)
|
|
|
NM_020822.3(KCNT1):c.1054C>G (p.Leu352Val)
|
|
|
NM_020822.3(KCNT1):c.1059G>C (p.Trp353Cys)
|
|
|
NM_020822.3(KCNT1):c.1060A>G (p.Met354Val)
|
rs2131473380
|
|
NM_020822.3(KCNT1):c.1069C>G (p.Gln357Glu)
|
|
|
NM_020822.3(KCNT1):c.107C>T (p.Pro36Leu)
|
|
|
NM_020822.3(KCNT1):c.1081G>A (p.Gly361Ser)
|
|
|
NM_020822.3(KCNT1):c.1093C>A (p.Arg365Ser)
|
|
|
NM_020822.3(KCNT1):c.1094G>A (p.Arg365His)
|
|
|
NM_020822.3(KCNT1):c.1094G>T (p.Arg365Leu)
|
|
|
NM_020822.3(KCNT1):c.1099C>T (p.Arg367Cys)
|
|
|
NM_020822.3(KCNT1):c.110+3dup
|
|
|
NM_020822.3(KCNT1):c.1100G>A (p.Arg367His)
|
|
|
NM_020822.3(KCNT1):c.1102G>T (p.Ala368Ser)
|
|
|
NM_020822.3(KCNT1):c.110_110+24delinsTTGACGACGGCCCCATTGACGACGGCCAATG
|
|
|
NM_020822.3(KCNT1):c.111-15G>A
|
|
|
NM_020822.3(KCNT1):c.1115A>G (p.Lys372Arg)
|
rs2131473824
|
|
NM_020822.3(KCNT1):c.112C>G (p.Arg38Gly)
|
rs1588255201
|
|
NM_020822.3(KCNT1):c.1132_1133del (p.Val378fs)
|
rs2131473970
|
|
NM_020822.3(KCNT1):c.113G>T (p.Arg38Leu)
|
|
|
NM_020822.3(KCNT1):c.1150G>T (p.Asp384Tyr)
|
|
|
NM_020822.3(KCNT1):c.1161G>A (p.Met387Ile)
|
rs1832172453
|
|
NM_020822.3(KCNT1):c.1174G>A (p.Glu392Lys)
|
rs780708628
|
|
NM_020822.3(KCNT1):c.1179C>A (p.Phe393Leu)
|
rs1832174053
|
|
NM_020822.3(KCNT1):c.1186C>T (p.His396Tyr)
|
rs1588343193
|
|
NM_020822.3(KCNT1):c.1189C>T (p.Pro397Ser)
|
rs2131474528
|
|
NM_020822.3(KCNT1):c.118T>C (p.Cys40Arg)
|
|
|
NM_020822.3(KCNT1):c.1200+12_1200+13delinsGC
|
|
|
NM_020822.3(KCNT1):c.1200+5G>A
|
|
|
NM_020822.3(KCNT1):c.1200G>T (p.Gln400His)
|
|
|
NM_020822.3(KCNT1):c.1208A>G (p.Tyr403Cys)
|
rs2131477259
|
|
NM_020822.3(KCNT1):c.1224C>A (p.Cys408Ter)
|
|
|
NM_020822.3(KCNT1):c.1226C>T (p.Pro409Leu)
|
rs1064794752
|
|
NM_020822.3(KCNT1):c.1233G>C (p.Glu411Asp)
|
|
|
NM_020822.3(KCNT1):c.1234A>G (p.Met412Val)
|
rs988871689
|
|
NM_020822.3(KCNT1):c.1234A>T (p.Met412Leu)
|
|
|
NM_020822.3(KCNT1):c.1236G>A (p.Met412Ile)
|
rs2131477505
|
|
NM_020822.3(KCNT1):c.1237G>A (p.Asp413Asn)
|
rs2131477515
|
|
NM_020822.3(KCNT1):c.1245G>C (p.Gln415His)
|
|
|
NM_020822.3(KCNT1):c.1249C>G (p.Arg417Gly)
|
|
|
NM_020822.3(KCNT1):c.1250G>A (p.Arg417His)
|
rs745965148
|
|
NM_020822.3(KCNT1):c.1254A>C (p.Arg418Ser)
|
rs1440098446
|
|
NM_020822.3(KCNT1):c.1260_1269dup (p.Leu424fs)
|
|
|
NM_020822.3(KCNT1):c.1275G>A (p.Trp425Ter)
|
|
|
NM_020822.3(KCNT1):c.1281G>T (p.Gln427His)
|
|
|
NM_020822.3(KCNT1):c.1282C>T (p.Arg428Trp)
|
rs373755663
|
|
NM_020822.3(KCNT1):c.1300G>A (p.Gly434Ser)
|
|
|
NM_020822.3(KCNT1):c.1323C>A (p.Asp441Glu)
|
|
|
NM_020822.3(KCNT1):c.1330C>T (p.Arg444Ter)
|
|
|
NM_020822.3(KCNT1):c.1338-2A>C
|
|
|
NM_020822.3(KCNT1):c.1342G>C (p.Asp448His)
|
|
|
NM_020822.3(KCNT1):c.1347T>A (p.Asn449Lys)
|
|
|
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe)
|
rs869312682
|
|
NM_020822.3(KCNT1):c.1373G>A (p.Ser458Asn)
|
|
|
NM_020822.3(KCNT1):c.1390C>T (p.Arg464Cys)
|
rs1564367281
|
|
NM_020822.3(KCNT1):c.1394C>A (p.Thr465Lys)
|
rs539139475
|
|
NM_020822.3(KCNT1):c.1396G>A (p.Ala466Thr)
|
rs1832501333
|
|
NM_020822.3(KCNT1):c.1399G>A (p.Ala467Thr)
|
|
|
NM_020822.3(KCNT1):c.1401+6_1401+9del
|
|
|
NM_020822.3(KCNT1):c.1401A>G (p.Ala467=)
|
|
|
NM_020822.3(KCNT1):c.1402-6C>G
|
|
|
NM_020822.3(KCNT1):c.1402-7C>G
|
|
|
NM_020822.3(KCNT1):c.1432G>A (p.Val478Met)
|
|
|
NM_020822.3(KCNT1):c.1448C>G (p.Pro483Arg)
|
|
|
NM_020822.3(KCNT1):c.1490A>G (p.Lys497Arg)
|
rs1245114972
|
|
NM_020822.3(KCNT1):c.1510+3G>A
|
rs1832520059
|
|
NM_020822.3(KCNT1):c.1510+5G>A
|
|
|
NM_020822.3(KCNT1):c.151G>A (p.Gly51Ser)
|
|
|
NM_020822.3(KCNT1):c.1525GAG[2] (p.Glu511del)
|
|
|
NM_020822.3(KCNT1):c.1534T>C (p.Cys512Arg)
|
rs1832635534
|
|
NM_020822.3(KCNT1):c.1540_1543dup (p.Ala515fs)
|
|
|
NM_020822.3(KCNT1):c.1568_1585dup (p.Thr528_Leu529insArgProAlaThrSerThr)
|
|
|
NM_020822.3(KCNT1):c.1571C>T (p.Pro524Leu)
|
|
|
NM_020822.3(KCNT1):c.1585C>G (p.Leu529Val)
|
|
|
NM_020822.3(KCNT1):c.15C>G (p.Asp5Glu)
|
|
|
NM_020822.3(KCNT1):c.1609T>A (p.Ser537Thr)
|
|
|
NM_020822.3(KCNT1):c.1610C>A (p.Ser537Tyr)
|
|
|
NM_020822.3(KCNT1):c.1612C>A (p.Arg538Ser)
|
|
|
NM_020822.3(KCNT1):c.1619+5G>A
|
|
|
NM_020822.3(KCNT1):c.1619+6T>A
|
rs1328836350
|
|
NM_020822.3(KCNT1):c.1620-14_1620-4dup
|
|
|
NM_020822.3(KCNT1):c.1620-3C>T
|
|
|
NM_020822.3(KCNT1):c.1621G>A (p.Glu541Lys)
|
rs753040489
|
|
NM_020822.3(KCNT1):c.162G>T (p.Met54Ile)
|
rs2131329345
|
|
NM_020822.3(KCNT1):c.1636C>G (p.Pro546Ala)
|
rs894604084
|
|
NM_020822.3(KCNT1):c.1645T>G (p.Trp549Gly)
|
rs1564370162
|
|
NM_020822.3(KCNT1):c.1651C>T (p.Arg551Cys)
|
rs749316999
|
|
NM_020822.3(KCNT1):c.1652G>A (p.Arg551His)
|
rs567764094
|
|
NM_020822.3(KCNT1):c.1654A>G (p.Met552Val)
|
rs2131507644
|
|
NM_020822.3(KCNT1):c.1672G>T (p.Gly558Cys)
|
rs1564370223
|
|
NM_020822.3(KCNT1):c.1675A>C (p.Asn559His)
|
|
|
NM_020822.3(KCNT1):c.1678G>A (p.Glu560Lys)
|
rs765969410
|
|
NM_020822.3(KCNT1):c.1684T>C (p.Tyr562His)
|
|
|
NM_020822.3(KCNT1):c.1685A>G (p.Tyr562Cys)
|
rs1832668143
|
|
NM_020822.3(KCNT1):c.1693C>T (p.Arg565Cys)
|
|
|
NM_020822.3(KCNT1):c.1696A>G (p.Met566Val)
|
rs1832669452
|
|
NM_020822.3(KCNT1):c.1697T>C (p.Met566Thr)
|
rs1832669667
|
|
NM_020822.3(KCNT1):c.1698_1699delinsTA (p.Met566_Gly567delinsIleSer)
|
rs1554774874
|
|
NM_020822.3(KCNT1):c.16G>C (p.Gly6Arg)
|
rs773874266
|
|
NM_020822.3(KCNT1):c.1703A>G (p.Asp568Gly)
|
|
|
NM_020822.3(KCNT1):c.1719C>T (p.Arg573=)
|
|
|
NM_020822.3(KCNT1):c.1742C>T (p.Thr581Ile)
|
|
|
NM_020822.3(KCNT1):c.1745A>G (p.Tyr582Cys)
|
rs1832673206
|
|
NM_020822.3(KCNT1):c.1748C>G (p.Ala583Gly)
|
rs1554774904
|
|
NM_020822.3(KCNT1):c.1748C>T (p.Ala583Val)
|
rs1554774904
|
|
NM_020822.3(KCNT1):c.1758C>A (p.His586Gln)
|
rs142760483
|
|
NM_020822.3(KCNT1):c.1760C>T (p.Ala587Val)
|
rs2131508404
|
|
NM_020822.3(KCNT1):c.1762C>T (p.His588Tyr)
|
|
|
NM_020822.3(KCNT1):c.1769+6G>A
|
rs927454585
|
|
NM_020822.3(KCNT1):c.1770-3C>T
|
|
|
NM_020822.3(KCNT1):c.1770-7_1785dup
|
|
|
NM_020822.3(KCNT1):c.1777G>C (p.Val593Leu)
|
|
|
NM_020822.3(KCNT1):c.1788C>G (p.Ile596Met)
|
|
|
NM_020822.3(KCNT1):c.1789G>A (p.Gly597Arg)
|
|
|
NM_020822.3(KCNT1):c.1806CAA[1] (p.Asn603del)
|
rs752708934
|
|
NM_020822.3(KCNT1):c.1809C>A (p.Asn603Lys)
|
|
|
NM_020822.3(KCNT1):c.1811A>C (p.Lys604Thr)
|
|
|
NM_020822.3(KCNT1):c.1815C>A (p.Ser605Arg)
|
rs113201678
|
|
NM_020822.3(KCNT1):c.1828C>A (p.Pro610Thr)
|
|
|
NM_020822.3(KCNT1):c.1831G>C (p.Gly611Arg)
|
|
|
NM_020822.3(KCNT1):c.1833del (p.Arg613fs)
|
rs1832711486
|
|
NM_020822.3(KCNT1):c.1852G>C (p.Ala618Pro)
|
|
|
NM_020822.3(KCNT1):c.1853C>T (p.Ala618Val)
|
rs1832713510
|
|
NM_020822.3(KCNT1):c.1862C>A (p.Thr621Asn)
|
rs151006970
|
|
NM_020822.3(KCNT1):c.1862C>T (p.Thr621Ile)
|
rs151006970
|
|
NM_020822.3(KCNT1):c.1870T>C (p.Tyr624His)
|
rs1832714833
|
|
NM_020822.3(KCNT1):c.1873A>G (p.Ile625Val)
|
|
|
NM_020822.3(KCNT1):c.1874T>A (p.Ile625Asn)
|
|
|
NM_020822.3(KCNT1):c.188C>T (p.Pro63Leu)
|
|
|
NM_020822.3(KCNT1):c.1891del (p.Glu631fs)
|
rs1171823087
|
|
NM_020822.3(KCNT1):c.1892_1900del (p.Glu631_Ser633del)
|
rs2131511280
|
|
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu)
|
rs377750450
|
|
NM_020822.3(KCNT1):c.1912A>G (p.Lys638Glu)
|
rs1832717620
|
|
NM_020822.3(KCNT1):c.1940C>A (p.Ala647Asp)
|
rs550751778
|
|
NM_020822.3(KCNT1):c.1946C>G (p.Ser649Trp)
|
rs747671066
|
|
NM_020822.3(KCNT1):c.1954G>A (p.Gly652Arg)
|
rs1832720528
|
|
NM_020822.3(KCNT1):c.1955G>A (p.Gly652Glu)
|
rs536588045
|
|
NM_020822.3(KCNT1):c.1957_1958insACGGGC (p.Gly652_Leu653insHisGly)
|
|
|
NM_020822.3(KCNT1):c.195_254+851del
|
rs1835645943
|
|
NM_020822.3(KCNT1):c.1966G>A (p.Gly656Ser)
|
rs1832721615
|
|
NM_020822.3(KCNT1):c.196C>G (p.Pro66Ala)
|
|
|
NM_020822.3(KCNT1):c.1970C>G (p.Pro657Arg)
|
|
|
NM_020822.3(KCNT1):c.1975del (p.Arg659fs)
|
rs1832722657
|
|
NM_020822.3(KCNT1):c.1979T>C (p.Leu660Pro)
|
|
|
NM_020822.3(KCNT1):c.197C>T (p.Pro66Leu)
|
|
|
NM_020822.3(KCNT1):c.1982C>T (p.Pro661Leu)
|
rs2131511927
|
|
NM_020822.3(KCNT1):c.1984G>A (p.Val662Met)
|
rs757867931
|
|
NM_020822.3(KCNT1):c.1984G>C (p.Val662Leu)
|
|
|
NM_020822.3(KCNT1):c.1984G>T (p.Val662Leu)
|
rs757867931
|
|
NM_020822.3(KCNT1):c.1991G>A (p.Ser664Asn)
|
rs1832724038
|
|
NM_020822.3(KCNT1):c.1999G>A (p.Ala667Thr)
|
|
|
NM_020822.3(KCNT1):c.1999G>T (p.Ala667Ser)
|
|
|
NM_020822.3(KCNT1):c.199C>T (p.Arg67Cys)
|
rs1060503698
|
|
NM_020822.3(KCNT1):c.2008+15del
|
rs2131512215
|
|
NM_020822.3(KCNT1):c.2008+16C>T
|
|
|
NM_020822.3(KCNT1):c.2008+6C>A
|
|
|
NM_020822.3(KCNT1):c.2009-2A>G
|
rs1318491844
|
|
NM_020822.3(KCNT1):c.2009-3C>T
|
rs2131520063
|
|
NM_020822.3(KCNT1):c.2011A>G (p.Thr671Ala)
|
rs1364315508
|
|
NM_020822.3(KCNT1):c.2013A>C (p.Thr671=)
|
|
|
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del)
|
rs754629346
|
|
NM_020822.3(KCNT1):c.2064_2069dup (p.Gly692_Ser693insGlyGly)
|
|
|
NM_020822.3(KCNT1):c.2071G>T (p.Gly691Trp)
|
|
|
NM_020822.3(KCNT1):c.2072G>A (p.Gly691Glu)
|
|
|
NM_020822.3(KCNT1):c.2084T>C (p.Leu695Pro)
|
|
|
NM_020822.3(KCNT1):c.2095A>G (p.Thr699Ala)
|
rs1832847354
|
|
NM_020822.3(KCNT1):c.2098G>C (p.Glu700Gln)
|
rs1554775570
|
|
NM_020822.3(KCNT1):c.2099_2103dup (p.Gly702fs)
|
|
|
NM_020822.3(KCNT1):c.20C>T (p.Ala7Val)
|
rs1044336128
|
|
NM_020822.3(KCNT1):c.2102A>G (p.Asn701Ser)
|
rs1588367542
|
|
NM_020822.3(KCNT1):c.2108C>T (p.Ser703Leu)
|
|
|
NM_020822.3(KCNT1):c.2120G>A (p.Arg707Gln)
|
rs1407599692
|
|
NM_020822.3(KCNT1):c.2122C>A (p.Pro708Thr)
|
rs892635002
|
|
NM_020822.3(KCNT1):c.2131G>A (p.Ala711Thr)
|
rs1277141686
|
|
NM_020822.3(KCNT1):c.2132C>T (p.Ala711Val)
|
rs1312096992
|
|
NM_020822.3(KCNT1):c.2137G>T (p.Val713Phe)
|
|
|
NM_020822.3(KCNT1):c.2152G>T (p.Asp718Tyr)
|
|
|
NM_020822.3(KCNT1):c.2168_2175dup (p.Asp726fs)
|
|
|
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup)
|
rs757605635
|
|
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn)
|
rs752598622
|
|
NM_020822.3(KCNT1):c.2195C>T (p.Ser732Leu)
|
rs774281111
|
|
NM_020822.3(KCNT1):c.2198A>G (p.Glu733Gly)
|
rs2131521801
|
|
NM_020822.3(KCNT1):c.2198A>T (p.Glu733Val)
|
|
|
NM_020822.3(KCNT1):c.2204_2206del (p.Glu735del)
|
rs1832857720
|
|
NM_020822.3(KCNT1):c.2206_2211del (p.Val736_Thr737del)
|
rs781600347
|
|
NM_020822.3(KCNT1):c.2212C>T (p.Pro738Ser)
|
|
|
NM_020822.3(KCNT1):c.2222A>C (p.Asp741Ala)
|
rs756359375
|
|
NM_020822.3(KCNT1):c.2239G>A (p.Val747Ile)
|
|
|
NM_020822.3(KCNT1):c.2242G>T (p.Glu748Ter)
|
|
|
NM_020822.3(KCNT1):c.2243+6T>C
|
|
|
NM_020822.3(KCNT1):c.2244-1G>A
|
|
|
NM_020822.3(KCNT1):c.2248G>A (p.Val750Met)
|
rs2131534801
|
|
NM_020822.3(KCNT1):c.2268C>A (p.Asn756Lys)
|
|
|
NM_020822.3(KCNT1):c.2291C>T (p.Pro764Leu)
|
rs1833087099
|
|
NM_020822.3(KCNT1):c.2305C>T (p.Leu769Phe)
|
|
|
NM_020822.3(KCNT1):c.2329TGC[1] (p.Cys778del)
|
rs1390654782
|
|
NM_020822.3(KCNT1):c.2378C>T (p.Ala793Val)
|
rs1833240649
|
|
NM_020822.3(KCNT1):c.2389G>A (p.Gly797Arg)
|
rs1233102018
|
|
NM_020822.3(KCNT1):c.238T>C (p.Phe80Leu)
|
rs1454449324
|
|
NM_020822.3(KCNT1):c.2407A>G (p.Ile803Val)
|
|
|
NM_020822.3(KCNT1):c.240C>G (p.Phe80Leu)
|
rs1554763398
|
|
NM_020822.3(KCNT1):c.2411T>C (p.Ile804Thr)
|
rs2131543567
|
|
NM_020822.3(KCNT1):c.241_246del (p.Gln81_Asn82del)
|
|
|
NM_020822.3(KCNT1):c.2426C>T (p.Thr809Met)
|
rs753288865
|
|
NM_020822.3(KCNT1):c.2435A>G (p.Asn812Ser)
|
rs1564380461
|
|
NM_020822.3(KCNT1):c.2446A>G (p.Asn816Asp)
|
rs2131543767
|
|
NM_020822.3(KCNT1):c.2449T>C (p.Phe817Leu)
|
rs1833245627
|
|
NM_020822.3(KCNT1):c.2465G>A (p.Arg822Gln)
|
rs1833247008
|
|
NM_020822.3(KCNT1):c.2479T>A (p.Ser827Thr)
|
|
|
NM_020822.3(KCNT1):c.2480C>A (p.Ser827Tyr)
|
|
|
NM_020822.3(KCNT1):c.248A>G (p.Asp83Gly)
|
|
|
NM_020822.3(KCNT1):c.2503G>A (p.Val835Met)
|
rs753584318
|
|
NM_020822.3(KCNT1):c.250G>A (p.Asp84Asn)
|
|
|
NM_020822.3(KCNT1):c.2517CAA[1] (p.Asn840del)
|
rs1833249937
|
|
NM_020822.3(KCNT1):c.251A>G (p.Asp84Gly)
|
|
|
NM_020822.3(KCNT1):c.2522+3G>A
|
rs1588381370
|
|
NM_020822.3(KCNT1):c.2522+3G>T
|
|
|
NM_020822.3(KCNT1):c.2525C>T (p.Pro842Leu)
|
|
|
NM_020822.3(KCNT1):c.2527G>C (p.Asp843His)
|
rs376758763
|
|
NM_020822.3(KCNT1):c.254+3A>G
|
|
|
NM_020822.3(KCNT1):c.2543_2544insCCA (p.Glu848delinsAspGln)
|
|
|
NM_020822.3(KCNT1):c.2555G>T (p.Cys852Phe)
|
rs1474100198
|
|
NM_020822.3(KCNT1):c.2561C>T (p.Pro854Leu)
|
|
|
NM_020822.3(KCNT1):c.256G>A (p.Val86Ile)
|
rs1172819191
|
|
NM_020822.3(KCNT1):c.2575A>G (p.Met859Val)
|
|
|
NM_020822.3(KCNT1):c.2585C>G (p.Ser862Cys)
|
rs1564381972
|
|
NM_020822.3(KCNT1):c.2599G>A (p.Asp867Asn)
|
rs1424894748
|
|
NM_020822.3(KCNT1):c.2600A>G (p.Asp867Gly)
|
rs757223440
|
|
NM_020822.3(KCNT1):c.2615G>A (p.Cys872Tyr)
|
|
|
NM_020822.3(KCNT1):c.2620A>G (p.Ile874Val)
|
|
|
NM_020822.3(KCNT1):c.2621T>C (p.Ile874Thr)
|
|
|
NM_020822.3(KCNT1):c.2631G>A (p.Ala877=)
|
|
|
NM_020822.3(KCNT1):c.2634C>A (p.Asp878Glu)
|
|
|
NM_020822.3(KCNT1):c.2639TGG[3] (p.Val883del)
|
rs2131549532
|
|
NM_020822.3(KCNT1):c.2647G>A (p.Val883Met)
|
|
|
NM_020822.3(KCNT1):c.2653A>G (p.Lys885Glu)
|
rs974652934
|
|
NM_020822.3(KCNT1):c.2680G>T (p.Asp894Tyr)
|
|
|
NM_020822.3(KCNT1):c.2690C>T (p.Ala897Val)
|
|
|
NM_020822.3(KCNT1):c.2695G>A (p.Ala899Thr)
|
rs778647834
|
|
NM_020822.3(KCNT1):c.2695G>T (p.Ala899Ser)
|
|
|
NM_020822.3(KCNT1):c.26C>A (p.Thr9Asn)
|
|
|
NM_020822.3(KCNT1):c.26C>T (p.Thr9Ile)
|
rs771423997
|
|
NM_020822.3(KCNT1):c.2708T>A (p.Val903Asp)
|
|
|
NM_020822.3(KCNT1):c.2727C>A (p.Phe909Leu)
|
|
|
NM_020822.3(KCNT1):c.2729G>T (p.Arg910Leu)
|
|
|
NM_020822.3(KCNT1):c.2730-18G>C
|
|
|
NM_020822.3(KCNT1):c.2734_2745dup (p.Leu915_Ser916insPheProSerLeu)
|
|
|
NM_020822.3(KCNT1):c.2746A>G (p.Ser916Gly)
|
|
|
NM_020822.3(KCNT1):c.2749A>G (p.Ile917Val)
|
rs2131552837
|
|
NM_020822.3(KCNT1):c.2767C>T (p.His923Tyr)
|
|
|
NM_020822.3(KCNT1):c.2779A>T (p.Met927Leu)
|
rs1486195544
|
|
NM_020822.3(KCNT1):c.2780T>C (p.Met927Thr)
|
|
|
NM_020822.3(KCNT1):c.278A>G (p.Asn93Ser)
|
|
|
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His)
|
rs1023136319
|
|
NM_020822.3(KCNT1):c.2804A>G (p.Lys935Arg)
|
rs1414528567
|
|
NM_020822.3(KCNT1):c.2812T>A (p.Tyr938Asn)
|
rs1833441002
|
|
NM_020822.3(KCNT1):c.2819T>C (p.Leu940Pro)
|
|
|
NM_020822.3(KCNT1):c.2824C>G (p.Leu942Val)
|
rs1833442352
|
|
NM_020822.3(KCNT1):c.2828C>T (p.Ser943Phe)
|
rs1833442719
|
|
NM_020822.3(KCNT1):c.2830A>C (p.Lys944Gln)
|
|
|
NM_020822.3(KCNT1):c.2841+5G>A
|
|
|
NM_020822.3(KCNT1):c.2843G>C (p.Arg948Thr)
|
rs755704046
|
|
NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser)
|
rs1277322108
|
|
NM_020822.3(KCNT1):c.2876T>C (p.Met959Thr)
|
rs1318262895
|
|
NM_020822.3(KCNT1):c.2887C>G (p.Pro963Ala)
|
rs2131571194
|
|
NM_020822.3(KCNT1):c.2888C>T (p.Pro963Leu)
|
rs997774104
|
|
NM_020822.3(KCNT1):c.2893G>A (p.Ala965Thr)
|
|
|
NM_020822.3(KCNT1):c.28C>G (p.Pro10Ala)
|
|
|
NM_020822.3(KCNT1):c.2903G>T (p.Arg968Leu)
|
rs1325608473
|
|
NM_020822.3(KCNT1):c.2910CAGCAT[3] (p.Ser973_Met974insIleSer)
|
|
|
NM_020822.3(KCNT1):c.2912G>C (p.Ser971Thr)
|
rs1279003717
|
|
NM_020822.3(KCNT1):c.2919C>T (p.Ser973=)
|
|
|
NM_020822.3(KCNT1):c.2944-21_2944-6del
|
|
|
NM_020822.3(KCNT1):c.2944-3C>T
|
rs1554779944
|
|
NM_020822.3(KCNT1):c.2950G>C (p.Val984Leu)
|
|
|
NM_020822.3(KCNT1):c.2955G>C (p.Lys985Asn)
|
rs1833883179
|
|
NM_020822.3(KCNT1):c.2960A>G (p.Tyr987Cys)
|
|
|
NM_020822.3(KCNT1):c.2968A>G (p.Thr990Ala)
|
rs1833884066
|
|
NM_020822.3(KCNT1):c.2978G>A (p.Arg993Gln)
|
rs1833885872
|
|
NM_020822.3(KCNT1):c.3011C>G (p.Ser1004Trp)
|
|
|
NM_020822.3(KCNT1):c.3017A>C (p.Tyr1006Ser)
|
rs1833891089
|
|
NM_020822.3(KCNT1):c.3023G>A (p.Cys1008Tyr)
|
|
|
NM_020822.3(KCNT1):c.3028-2A>T
|
rs2131575343
|
|
NM_020822.3(KCNT1):c.3028-5T>G
|
rs755073132
|
|
NM_020822.3(KCNT1):c.3040G>A (p.Glu1014Lys)
|
|
|
NM_020822.3(KCNT1):c.304A>G (p.Lys102Glu)
|
|
|
NM_020822.3(KCNT1):c.3050T>C (p.Leu1017Pro)
|
rs1450164108
|
|
NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu)
|
rs1588401995
|
|
NM_020822.3(KCNT1):c.3092C>T (p.Ser1031Phe)
|
rs750371003
|
|
NM_020822.3(KCNT1):c.3112A>G (p.Ile1038Val)
|
|
|
NM_020822.3(KCNT1):c.3119T>C (p.Ile1040Thr)
|
|
|
NM_020822.3(KCNT1):c.3124C>T (p.Arg1042Trp)
|
rs772472766
|
|
NM_020822.3(KCNT1):c.3128C>G (p.Thr1043Arg)
|
|
|
NM_020822.3(KCNT1):c.3128C>T (p.Thr1043Ile)
|
|
|
NM_020822.3(KCNT1):c.3132G>C (p.Glu1044Asp)
|
rs771326200
|
|
NM_020822.3(KCNT1):c.3134G>A (p.Ser1045Asn)
|
|
|
NM_020822.3(KCNT1):c.3139G>A (p.Val1047Ile)
|
rs760000324
|
|
NM_020822.3(KCNT1):c.3145T>G (p.Ser1049Ala)
|
|
|
NM_020822.3(KCNT1):c.3145_3147del (p.Ser1049del)
|
rs758292147
|
|
NM_020822.3(KCNT1):c.3152C>A (p.Ser1051Ter)
|
rs375749415
|
|
NM_020822.3(KCNT1):c.3156+3T>C
|
rs2131575984
|
|
NM_020822.3(KCNT1):c.3156+5T>C
|
rs2131575991
|
|
NM_020822.3(KCNT1):c.3156+6G>C
|
rs1474671973
|
|
NM_020822.3(KCNT1):c.3157C>T (p.Pro1053Ser)
|
rs1833952592
|
|
NM_020822.3(KCNT1):c.3163G>T (p.Asp1055Tyr)
|
|
|
NM_020822.3(KCNT1):c.3172G>A (p.Ala1058Thr)
|
rs1564392375
|
|
NM_020822.3(KCNT1):c.3173C>T (p.Ala1058Val)
|
rs757774262
|
|
NM_020822.3(KCNT1):c.3176A>G (p.Gln1059Arg)
|
|
|
NM_020822.3(KCNT1):c.3177+6C>T
|
|
|
NM_020822.3(KCNT1):c.3177_3177+22dup
|
rs1833953810
|
|
NM_020822.3(KCNT1):c.3178-12_3180dup
|
|
|
NM_020822.3(KCNT1):c.3178-1G>A
|
|
|
NM_020822.3(KCNT1):c.3178-5_3178-1dup
|
rs772240955
|
|
NM_020822.3(KCNT1):c.3178-7T>A
|
|
|
NM_020822.3(KCNT1):c.3178-7_3180dup
|
|
|
NM_020822.3(KCNT1):c.3178T>C (p.Ser1060Pro)
|
|
|
NM_020822.3(KCNT1):c.3179C>T (p.Ser1060Phe)
|
rs758653391
|
|
NM_020822.3(KCNT1):c.3184_3210dup (p.Glu1070_Asp1071insIleSerValAsnValGluAspCysGlu)
|
|
|
NM_020822.3(KCNT1):c.3185T>C (p.Ile1062Thr)
|
rs1588407407
|
|
NM_020822.3(KCNT1):c.3188C>T (p.Ser1063Leu)
|
rs1161728281
|
|
NM_020822.3(KCNT1):c.3202G>A (p.Asp1068Asn)
|
rs1834036491
|
|
NM_020822.3(KCNT1):c.3205T>A (p.Cys1069Ser)
|
rs781225639
|
|
NM_020822.3(KCNT1):c.3206G>A (p.Cys1069Tyr)
|
|
|
NM_020822.3(KCNT1):c.3218G>C (p.Arg1073Pro)
|
rs747837141
|
|
NM_020822.3(KCNT1):c.3232C>T (p.Pro1078Ser)
|
rs1834038347
|
|
NM_020822.3(KCNT1):c.3244C>G (p.Arg1082Gly)
|
rs776232246
|
|
NM_020822.3(KCNT1):c.324C>A (p.Asn108Lys)
|
|
|
NM_020822.3(KCNT1):c.3281C>G (p.Thr1094Arg)
|
|
|
NM_020822.3(KCNT1):c.3290G>T (p.Gly1097Val)
|
|
|
NM_020822.3(KCNT1):c.3299C>T (p.Ala1100Val)
|
|
|
NM_020822.3(KCNT1):c.3306C>A (p.His1102Gln)
|
|
|
NM_020822.3(KCNT1):c.3307C>A (p.Pro1103Thr)
|
rs1347095932
|
|
NM_020822.3(KCNT1):c.3316C>T (p.Arg1106Trp)
|
rs542409033
|
|
NM_020822.3(KCNT1):c.3318_3320dup (p.Arg1107_Lys1108insArg)
|
|
|
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)
|
rs1193627908
|
|
NM_020822.3(KCNT1):c.334+8G>A
|
|
|
NM_020822.3(KCNT1):c.3340C>G (p.Arg1114Gly)
|
rs370085077
|
|
NM_020822.3(KCNT1):c.3346C>A (p.Leu1116Met)
|
|
|
NM_020822.3(KCNT1):c.335-5C>A
|
rs745658927
|
|
NM_020822.3(KCNT1):c.3352C>T (p.Arg1118Cys)
|
|
|
NM_020822.3(KCNT1):c.3356A>C (p.Lys1119Thr)
|
|
|
NM_020822.3(KCNT1):c.3361C>T (p.Pro1121Ser)
|
|
|
NM_020822.3(KCNT1):c.3374G>A (p.Gly1125Asp)
|
rs1316682933
|
|
NM_020822.3(KCNT1):c.3374G>C (p.Gly1125Ala)
|
|
|
NM_020822.3(KCNT1):c.3385G>A (p.Ala1129Thr)
|
rs1834052820
|
|
NM_020822.3(KCNT1):c.3385G>T (p.Ala1129Ser)
|
|
|
NM_020822.3(KCNT1):c.3388G>T (p.Ala1130Ser)
|
rs138421850
|
|
NM_020822.3(KCNT1):c.338T>A (p.Leu113Gln)
|
rs1588309597
|
|
NM_020822.3(KCNT1):c.3391G>A (p.Glu1131Lys)
|
rs2131582676
|
|
NM_020822.3(KCNT1):c.3396G>T (p.Trp1132Cys)
|
|
|
NM_020822.3(KCNT1):c.3397A>T (p.Ile1133Phe)
|
rs1408375707
|
|
NM_020822.3(KCNT1):c.3409C>A (p.Arg1137Ser)
|
|
|
NM_020822.3(KCNT1):c.3412C>A (p.Leu1138Ile)
|
|
|
NM_020822.3(KCNT1):c.3418C>A (p.Leu1140Met)
|
rs1237797436
|
|
NM_020822.3(KCNT1):c.3419T>A (p.Leu1140Gln)
|
rs774987263
|
|
NM_020822.3(KCNT1):c.3427C>A (p.Arg1143Ser)
|
rs760923308
|
|
NM_020822.3(KCNT1):c.3427C>T (p.Arg1143Cys)
|
|
|
NM_020822.3(KCNT1):c.3430T>C (p.Ser1144Pro)
|
rs2131582898
|
|
NM_020822.3(KCNT1):c.3433G>A (p.Glu1145Lys)
|
|
|
NM_020822.3(KCNT1):c.3441G>C (p.Gln1147His)
|
|
|
NM_020822.3(KCNT1):c.3451G>C (p.Glu1151Gln)
|
|
|
NM_020822.3(KCNT1):c.3460_3461delinsGT (p.Lys1154Val)
|
rs1834060931
|
|
NM_020822.3(KCNT1):c.3464A>G (p.Asn1155Ser)
|
|
|
NM_020822.3(KCNT1):c.3466C>T (p.Arg1156Cys)
|
|
|
NM_020822.3(KCNT1):c.3493A>G (p.Thr1165Ala)
|
rs549276113
|
|
NM_020822.3(KCNT1):c.3494C>T (p.Thr1165Ile)
|
rs748679465
|
|
NM_020822.3(KCNT1):c.34G>A (p.Gly12Ser)
|
rs1445337149
|
|
NM_020822.3(KCNT1):c.3514G>A (p.Asp1172Asn)
|
|
|
NM_020822.3(KCNT1):c.3516CCA[3] (p.His1173dup)
|
rs1290067674
|
|
NM_020822.3(KCNT1):c.3525C>G (p.Asn1175Lys)
|
rs139454881
|
|
NM_020822.3(KCNT1):c.3526A>G (p.Thr1176Ala)
|
|
|
NM_020822.3(KCNT1):c.3529C>G (p.Leu1177Val)
|
rs1474508355
|
|
NM_020822.3(KCNT1):c.3529C>T (p.Leu1177Phe)
|
|
|
NM_020822.3(KCNT1):c.3559G>A (p.Asp1187Asn)
|
|
|
NM_020822.3(KCNT1):c.3559G>C (p.Asp1187His)
|
rs142875411
|
|
NM_020822.3(KCNT1):c.3561C>A (p.Asp1187Glu)
|
rs773695396
|
|
NM_020822.3(KCNT1):c.3574C>T (p.Pro1192Ser)
|
rs1445788992
|
|
NM_020822.3(KCNT1):c.3579T>G (p.Ser1193Arg)
|
|
|
NM_020822.3(KCNT1):c.357C>A (p.Asn119Lys)
|
rs1831125430
|
|
NM_020822.3(KCNT1):c.3581A>G (p.Asp1194Gly)
|
rs2131604934
|
|
NM_020822.3(KCNT1):c.3583A>C (p.Ile1195Leu)
|
|
|
NM_020822.3(KCNT1):c.35dup (p.Val13fs)
|
rs1835063072
|
|
NM_020822.3(KCNT1):c.3601T>A (p.Ser1201Thr)
|
|
|
NM_020822.3(KCNT1):c.3601T>C (p.Ser1201Pro)
|
|
|
NM_020822.3(KCNT1):c.3603C>A (p.Ser1201=)
|
rs769180686
|
|
NM_020822.3(KCNT1):c.3606C>A (p.Asp1202Glu)
|
rs140628824
|
|
NM_020822.3(KCNT1):c.3608C>A (p.Pro1203His)
|
rs762025166
|
|
NM_020822.3(KCNT1):c.360C>G (p.Phe120Leu)
|
|
|
NM_020822.3(KCNT1):c.3614C>G (p.Ala1205Gly)
|
|
|
NM_020822.3(KCNT1):c.3630C>A (p.Ser1210Arg)
|
|
|
NM_020822.3(KCNT1):c.3634C>A (p.Gln1212Lys)
|
rs1554782444
|
|
NM_020822.3(KCNT1):c.3634C>T (p.Gln1212Ter)
|
|
|
NM_020822.3(KCNT1):c.3646A>C (p.Ser1216Arg)
|
rs1834583130
|
|
NM_020822.3(KCNT1):c.3649A>G (p.Ser1217Gly)
|
rs2131606216
|
|
NM_020822.3(KCNT1):c.3650G>T (p.Ser1217Ile)
|
|
|
NM_020822.3(KCNT1):c.3661A>G (p.Lys1221Glu)
|
|
|
NM_020822.3(KCNT1):c.3662A>G (p.Lys1221Arg)
|
rs1834585051
|
|
NM_020822.3(KCNT1):c.3666GTC[1] (p.Ser1224del)
|
|
|
NM_020822.3(KCNT1):c.3679C>G (p.Pro1227Ala)
|
|
|
NM_020822.3(KCNT1):c.3679_3690del (p.Pro1227_Arg1230del)
|
|
|
NM_020822.3(KCNT1):c.3688C>G (p.Arg1230Gly)
|
|
|
NM_020822.3(KCNT1):c.3696G>C (p.Glu1232Asp)
|
|
|
NM_020822.3(KCNT1):c.3700_3701del (p.Gln1234fs)
|
rs1834589533
|
|
NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile)
|
rs1402206752
|
|
NM_020822.3(KCNT1):c.385C>G (p.Leu129Val)
|
rs1402206752
|
|
NM_020822.3(KCNT1):c.38T>C (p.Val13Ala)
|
rs764111643
|
|
NM_020822.3(KCNT1):c.394G>A (p.Val132Met)
|
|
|
NM_020822.3(KCNT1):c.397C>T (p.Arg133Cys)
|
|
|
NM_020822.3(KCNT1):c.400G>T (p.Val134Phe)
|
rs766663683
|
|
NM_020822.3(KCNT1):c.406C>T (p.Leu136Phe)
|
|
|
NM_020822.3(KCNT1):c.416C>T (p.Pro139Leu)
|
|
|
NM_020822.3(KCNT1):c.419C>T (p.Ala140Val)
|
rs2131411420
|
|
NM_020822.3(KCNT1):c.426C>T (p.Gly142=)
|
|
|
NM_020822.3(KCNT1):c.427A>G (p.Ile143Val)
|
|
|
NM_020822.3(KCNT1):c.429C>A (p.Ile143=)
|
rs767429133
|
|
NM_020822.3(KCNT1):c.433T>C (p.Cys145Arg)
|
|
|
NM_020822.3(KCNT1):c.434G>A (p.Cys145Tyr)
|
rs1831132002
|
|
NM_020822.3(KCNT1):c.44G>A (p.Arg15Gln)
|
rs373446490
|
|
NM_020822.3(KCNT1):c.451C>G (p.Gln151Glu)
|
|
|
NM_020822.3(KCNT1):c.457T>C (p.Tyr153His)
|
rs757995472
|
|
NM_020822.3(KCNT1):c.464T>C (p.Phe155Ser)
|
|
|
NM_020822.3(KCNT1):c.46G>A (p.Glu16Lys)
|
|
|
NM_020822.3(KCNT1):c.46G>C (p.Glu16Gln)
|
rs1835063926
|
|
NM_020822.3(KCNT1):c.476C>T (p.Ser159Phe)
|
rs2131422984
|
|
NM_020822.3(KCNT1):c.488A>G (p.Asn163Ser)
|
|
|
NM_020822.3(KCNT1):c.492-3C>A
|
rs1831398385
|
|
NM_020822.3(KCNT1):c.493G>A (p.Ala165Thr)
|
rs149908455
|
|
NM_020822.3(KCNT1):c.4C>T (p.Pro2Ser)
|
rs748898708
|
|
NM_020822.3(KCNT1):c.513_516del (p.Arg172_Lys173insTer)
|
rs1831399744
|
|
NM_020822.3(KCNT1):c.518A>G (p.Lys173Arg)
|
rs1028292080
|
|
NM_020822.3(KCNT1):c.524C>T (p.Thr175Ile)
|
|
|
NM_020822.3(KCNT1):c.540G>A (p.Gln180=)
|
|
|
NM_020822.3(KCNT1):c.553A>G (p.Ile185Val)
|
rs2131434707
|
|
NM_020822.3(KCNT1):c.555A>G (p.Ile185Met)
|
rs1588321846
|
|
NM_020822.3(KCNT1):c.556A>G (p.Ile186Val)
|
rs1831515095
|
|
NM_020822.3(KCNT1):c.558A>G (p.Ile186Met)
|
|
|
NM_020822.3(KCNT1):c.55G>C (p.Gly19Arg)
|
|
|
NM_020822.3(KCNT1):c.56_75dup (p.Thr26fs)
|
|
|
NM_020822.3(KCNT1):c.572C>T (p.Thr191Met)
|
rs1429039180
|
|
NM_020822.3(KCNT1):c.589C>T (p.Leu197Phe)
|
|
|
NM_020822.3(KCNT1):c.58G>C (p.Gly20Arg)
|
rs2131304181
|
|
NM_020822.3(KCNT1):c.593G>C (p.Ser198Thr)
|
|
|
NM_020822.3(KCNT1):c.600+3G>A
|
|
|
NM_020822.3(KCNT1):c.60_75del (p.Gly21fs)
|
rs2131304179
|
|
NM_020822.3(KCNT1):c.612G>T (p.Trp204Cys)
|
|
|
NM_020822.3(KCNT1):c.616C>T (p.Gln206Ter)
|
rs1192150242
|
|
NM_020822.3(KCNT1):c.616_618del (p.Gln206del)
|
|
|
NM_020822.3(KCNT1):c.619A>G (p.Ile207Val)
|
|
|
NM_020822.3(KCNT1):c.626G>T (p.Arg209Leu)
|
|
|
NM_020822.3(KCNT1):c.62G>A (p.Gly21Asp)
|
rs368870705
|
|
NM_020822.3(KCNT1):c.62del (p.Gly21fs)
|
|
|
NM_020822.3(KCNT1):c.648G>A (p.Met216Ile)
|
|
|
NM_020822.3(KCNT1):c.651C>G (p.Ile217Met)
|
rs1217512521
|
|
NM_020822.3(KCNT1):c.658C>G (p.Leu220Val)
|
|
|
NM_020822.3(KCNT1):c.675+17_676-22del
|
|
|
NM_020822.3(KCNT1):c.67A>C (p.Thr23Pro)
|
|
|
NM_020822.3(KCNT1):c.686C>T (p.Pro229Leu)
|
|
|
NM_020822.3(KCNT1):c.694C>T (p.Arg232Trp)
|
|
|
NM_020822.3(KCNT1):c.695G>A (p.Arg232Gln)
|
|
|
NM_020822.3(KCNT1):c.701T>A (p.Leu234Gln)
|
rs201583448
|
|
NM_020822.3(KCNT1):c.704del (p.Phe235fs)
|
rs1187172120
|
|
NM_020822.3(KCNT1):c.70A>C (p.Asn24His)
|
|
|
NM_020822.3(KCNT1):c.742G>A (p.Ala248Thr)
|
|
|
NM_020822.3(KCNT1):c.748G>C (p.Glu250Gln)
|
|
|
NM_020822.3(KCNT1):c.752del (p.Asn251fs)
|
|
|
NM_020822.3(KCNT1):c.754A>T (p.Met252Leu)
|
rs755782470
|
|
NM_020822.3(KCNT1):c.763G>A (p.Asp255Asn)
|
|
|
NM_020822.3(KCNT1):c.763del (p.Asp255fs)
|
rs755630818
|
|
NM_020822.3(KCNT1):c.772C>T (p.Arg258Cys)
|
|
|
NM_020822.3(KCNT1):c.773G>A (p.Arg258His)
|
|
|
NM_020822.3(KCNT1):c.775G>T (p.Ala259Ser)
|
|
|
NM_020822.3(KCNT1):c.779T>C (p.Ile260Thr)
|
|
|
NM_020822.3(KCNT1):c.790C>A (p.Gln264Lys)
|
|
|
NM_020822.3(KCNT1):c.790C>T (p.Gln264Ter)
|
|
|
NM_020822.3(KCNT1):c.793_796del (p.Ser265fs)
|
rs764041770
|
|
NM_020822.3(KCNT1):c.797C>T (p.Ala266Val)
|
rs1341175923
|
|
NM_020822.3(KCNT1):c.7C>T (p.Leu3Phe)
|
|
|
NM_020822.3(KCNT1):c.814C>A (p.Leu272Ile)
|
rs757884130
|
|
NM_020822.3(KCNT1):c.814C>T (p.Leu272Phe)
|
|
|
NM_020822.3(KCNT1):c.817A>G (p.Ile273Val)
|
|
|
NM_020822.3(KCNT1):c.819C>G (p.Ile273Met)
|
|
|
NM_020822.3(KCNT1):c.81C>A (p.Phe27Leu)
|
|
|
NM_020822.3(KCNT1):c.825C>G (p.Phe275Leu)
|
|
|
NM_020822.3(KCNT1):c.82_84del (p.Glu28del)
|
|
|
NM_020822.3(KCNT1):c.839G>A (p.Cys280Tyr)
|
rs1160972448
|
|
NM_020822.3(KCNT1):c.844G>A (p.Val282Ile)
|
|
|
NM_020822.3(KCNT1):c.855-10G>A
|
rs1057521940
|
|
NM_020822.3(KCNT1):c.855-9G>A
|
|
|
NM_020822.3(KCNT1):c.855G>C (p.Gly285=)
|
|
|
NM_020822.3(KCNT1):c.85T>C (p.Phe29Leu)
|
rs1406826181
|
|
NM_020822.3(KCNT1):c.881G>A (p.Arg294Gln)
|
|
|
NM_020822.3(KCNT1):c.886G>A (p.Gly296Ser)
|
rs1831777941
|
|
NM_020822.3(KCNT1):c.898T>C (p.Ser300Pro)
|
rs1564356207
|
|
NM_020822.3(KCNT1):c.899C>T (p.Ser300Phe)
|
|
|
NM_020822.3(KCNT1):c.908C>T (p.Thr303Ile)
|
|
|
NM_020822.3(KCNT1):c.909_910delinsGA (p.Ser304Thr)
|
rs1060503697
|
|
NM_020822.3(KCNT1):c.914T>C (p.Phe305Ser)
|
|
|
NM_020822.3(KCNT1):c.943G>A (p.Val315Met)
|
|
|
NM_020822.3(KCNT1):c.952G>A (p.Gly318Ser)
|
rs1831783786
|
|
NM_020822.3(KCNT1):c.962C>T (p.Thr321Met)
|
rs1588330851
|
|
NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg)
|
rs978227077
|
|
NM_020822.3(KCNT1):c.971T>A (p.Ile324Asn)
|
rs2131451388
|
|
NM_020822.3(KCNT1):c.972C>G (p.Ile324Met)
|
rs1831785244
|
|
NM_020822.3(KCNT1):c.973T>G (p.Trp325Gly)
|
|
|
NM_020822.3(KCNT1):c.977C>T (p.Pro326Leu)
|
rs777106178
|
|
NM_020822.3(KCNT1):c.997A>T (p.Ile333Phe)
|
|
|
NM_020822.3(KCNT1):c.999C>G (p.Ile333Met)
|
rs764327750
|
|
NM_021267.5(CERS1):c.1009G>C (p.Glu337Gln)
|
rs761766419
|
|
NM_021267.5(CERS1):c.1011-2A>G
|
rs771873576
|
|
NM_021267.5(CERS1):c.102_103insTCG (p.Ala34_Arg35insSer)
|
rs1210737907
|
|
NM_021267.5(CERS1):c.113C>A (p.Thr38Lys)
|
|
|
NM_021267.5(CERS1):c.118T>G (p.Cys40Gly)
|
|
|
NM_021267.5(CERS1):c.133G>C (p.Ala45Pro)
|
rs2146084497
|
|
NM_021267.5(CERS1):c.148G>C (p.Ala50Pro)
|
|
|
NM_021267.5(CERS1):c.148G>T (p.Ala50Ser)
|
|
|
NM_021267.5(CERS1):c.158C>G (p.Ala53Gly)
|
rs2056615240
|
|
NM_021267.5(CERS1):c.173C>T (p.Pro58Leu)
|
rs2056614649
|
|
NM_021267.5(CERS1):c.177G>C (p.Glu59Asp)
|
rs2056614444
|
|
NM_021267.5(CERS1):c.178C>G (p.Leu60Val)
|
rs760185006
|
|
NM_021267.5(CERS1):c.17C>G (p.Pro6Arg)
|
|
|
NM_021267.5(CERS1):c.181C>A (p.Leu61Met)
|
rs1330389032
|
|
NM_021267.5(CERS1):c.182T>C (p.Leu61Pro)
|
rs2146084156
|
|
NM_021267.5(CERS1):c.18_29del (p.3AAGP[1])
|
rs1026938291
|
|
NM_021267.5(CERS1):c.18_29dup (p.3AAGP[3])
|
rs1026938291
|
|
NM_021267.5(CERS1):c.211A>G (p.Thr71Ala)
|
rs1427120932
|
|
NM_021267.5(CERS1):c.219_220insGGCTGGACCGCGCTG (p.Gly69_Leu73dup)
|
rs2056612675
|
|
NM_021267.5(CERS1):c.307G>A (p.Ala103Thr)
|
|
|
NM_021267.5(CERS1):c.307G>T (p.Ala103Ser)
|
rs755528875
|
|
NM_021267.5(CERS1):c.30_38del (p.Thr11_Pro13del)
|
rs2056619121
|
|
NM_021267.5(CERS1):c.312del (p.Ala103_Trp104insTer)
|
rs2146074561
|
|
NM_021267.5(CERS1):c.319C>G (p.Leu107Val)
|
rs1039358825
|
|
NM_021267.5(CERS1):c.350C>T (p.Ala117Val)
|
rs2146074403
|
|
NM_021267.5(CERS1):c.37C>A (p.Pro13Thr)
|
|
|
NM_021267.5(CERS1):c.398C>T (p.Ser133Phe)
|
rs1555707050
|
|
NM_021267.5(CERS1):c.440A>G (p.Asp147Gly)
|
rs2056291546
|
|
NM_021267.5(CERS1):c.46A>G (p.Met16Val)
|
rs2146085001
|
|
NM_021267.5(CERS1):c.470G>A (p.Ser157Asn)
|
rs2146033428
|
|
NM_021267.5(CERS1):c.506T>C (p.Met169Thr)
|
|
|
NM_021267.5(CERS1):c.50C>T (p.Pro17Leu)
|
rs2056618624
|
|
NM_021267.5(CERS1):c.511A>G (p.Thr171Ala)
|
rs1295251261
|
|
NM_021267.5(CERS1):c.518G>A (p.Arg173His)
|
|
|
NM_021267.5(CERS1):c.527C>G (p.Ser176Trp)
|
rs555889038
|
|
NM_021267.5(CERS1):c.550G>A (p.Val184Met)
|
rs374308521
|
|
NM_021267.5(CERS1):c.550G>T (p.Val184Leu)
|
rs374308521
|
|
NM_021267.5(CERS1):c.557C>T (p.Thr186Ile)
|
rs1601172583
|
|
NM_021267.5(CERS1):c.586T>A (p.Phe196Ile)
|
|
|
NM_021267.5(CERS1):c.590G>A (p.Arg197Gln)
|
rs758556990
|
|
NM_021267.5(CERS1):c.5CGG[4] (p.Ala4dup)
|
rs996708246
|
|
NM_021267.5(CERS1):c.608T>C (p.Ile203Thr)
|
rs1314252199
|
|
NM_021267.5(CERS1):c.610C>G (p.Leu204Val)
|
rs866186539
|
|
NM_021267.5(CERS1):c.634A>G (p.Ser212Gly)
|
|
|
NM_021267.5(CERS1):c.637G>A (p.Asp213Asn)
|
rs2146018809
|
|
NM_021267.5(CERS1):c.667A>G (p.Ile223Val)
|
|
|
NM_021267.5(CERS1):c.683G>A (p.Arg228His)
|
rs777656031
|
|
NM_021267.5(CERS1):c.688G>A (p.Gly230Ser)
|
rs935097145
|
|
NM_021267.5(CERS1):c.700C>G (p.Arg234Gly)
|
rs767727206
|
|
NM_021267.5(CERS1):c.701G>A (p.Arg234Gln)
|
rs369297915
|
|
NM_021267.5(CERS1):c.701G>T (p.Arg234Leu)
|
rs369297915
|
|
NM_021267.5(CERS1):c.709G>A (p.Ala237Thr)
|
rs368637790
|
|
NM_021267.5(CERS1):c.709G>T (p.Ala237Ser)
|
rs368637790
|
|
NM_021267.5(CERS1):c.715_716delinsTT (p.Ala239Leu)
|
rs2146018425
|
|
NM_021267.5(CERS1):c.71_72delinsCC (p.Gln24Pro)
|
rs2146084865
|
|
NM_021267.5(CERS1):c.725T>C (p.Leu242Ser)
|
rs1601165243
|
|
NM_021267.5(CERS1):c.738C>G (p.Ser246Arg)
|
rs2056170861
|
|
NM_021267.5(CERS1):c.742G>A (p.Gly248Ser)
|
rs925482243
|
|
NM_021267.5(CERS1):c.74G>A (p.Arg25His)
|
rs2056617983
|
|
NM_021267.5(CERS1):c.753-3C>A
|
|
|
NM_021267.5(CERS1):c.805C>T (p.His269Tyr)
|
|
|
NM_021267.5(CERS1):c.81G>C (p.Trp27Cys)
|
|
|
NM_021267.5(CERS1):c.835C>A (p.Pro279Thr)
|
rs368072339
|
|
NM_021267.5(CERS1):c.835C>G (p.Pro279Ala)
|
rs368072339
|
|
NM_021267.5(CERS1):c.851T>C (p.Phe284Ser)
|
rs1568297877
|
|
NM_021267.5(CERS1):c.87C>G (p.Ser29Arg)
|
rs1275370347
|
|
NM_021267.5(CERS1):c.903C>A (p.Tyr301Ter)
|
rs1601162007
|
|
NM_021267.5(CERS1):c.940G>T (p.Val314Leu)
|
|
|
NM_021267.5(CERS1):c.945C>G (p.His315Gln)
|
rs767643146
|
|
NM_021267.5(CERS1):c.955G>A (p.Asp319Asn)
|
rs369933386
|
|
NM_021267.5(CERS1):c.961C>T (p.Arg321Trp)
|
rs770285954
|
|
NM_032737.4(LMNB2):c.1016A>T (p.Glu339Val)
|
|
|
NM_032737.4(LMNB2):c.101C>T (p.Thr34Met)
|
rs1599345010
|
|
NM_032737.4(LMNB2):c.1026G>A (p.Met342Ile)
|
rs2145448355
|
|
NM_032737.4(LMNB2):c.1037G>A (p.Arg346Gln)
|
|
|
NM_032737.4(LMNB2):c.1041C>A (p.Asp347Glu)
|
rs1366067577
|
|
NM_032737.4(LMNB2):c.1047C>G (p.Phe349Leu)
|
rs1044762718
|
|
NM_032737.4(LMNB2):c.1055T>A (p.Met352Lys)
|
|
|
NM_032737.4(LMNB2):c.1090C>T (p.Arg364Trp)
|
rs1482825530
|
|
NM_032737.4(LMNB2):c.1126G>C (p.Glu376Gln)
|
rs370443310
|
|
NM_032737.4(LMNB2):c.1141A>C (p.Lys381Gln)
|
|
|
NM_032737.4(LMNB2):c.1198G>T (p.Glu400Ter)
|
rs1555683015
|
|
NM_032737.4(LMNB2):c.1202+4C>G
|
rs756666958
|
|
NM_032737.4(LMNB2):c.1203-14T>A
|
rs1362758350
|
|
NM_032737.4(LMNB2):c.1214C>T (p.Ser405Phe)
|
|
|
NM_032737.4(LMNB2):c.1216C>A (p.Pro406Thr)
|
rs1232802483
|
|
NM_032737.4(LMNB2):c.1220G>C (p.Ser407Thr)
|
rs755373660
|
|
NM_032737.4(LMNB2):c.1221C>A (p.Ser407Arg)
|
rs766553520
|
|
NM_032737.4(LMNB2):c.1229C>T (p.Ser410Leu)
|
|
|
NM_032737.4(LMNB2):c.1244C>T (p.Ser415Leu)
|
rs201335788
|
|
NM_032737.4(LMNB2):c.1247G>A (p.Arg416Gln)
|
rs200293412
|
|
NM_032737.4(LMNB2):c.1250C>A (p.Ala417Asp)
|
rs2145447793
|
|
NM_032737.4(LMNB2):c.1252A>C (p.Thr418Pro)
|
|
|
NM_032737.4(LMNB2):c.1256C>G (p.Ser419Trp)
|
rs368949581
|
|
NM_032737.4(LMNB2):c.1279G>T (p.Ala427Ser)
|
rs57521499
|
|
NM_032737.4(LMNB2):c.1285G>C (p.Gly429Arg)
|
|
|
NM_032737.4(LMNB2):c.1313G>A (p.Arg438Gln)
|
rs758913468
|
|
NM_032737.4(LMNB2):c.1326G>T (p.Glu442Asp)
|
|
|
NM_032737.4(LMNB2):c.1336G>A (p.Gly446Ser)
|
|
|
NM_032737.4(LMNB2):c.1337G>A (p.Gly446Asp)
|
|
|
NM_032737.4(LMNB2):c.1350C>A (p.Ser450Arg)
|
rs765785713
|
|
NM_032737.4(LMNB2):c.1361C>G (p.Thr454Arg)
|
|
|
NM_032737.4(LMNB2):c.1369G>A (p.Gly457Ser)
|
|
|
NM_032737.4(LMNB2):c.1402G>A (p.Ala468Thr)
|
rs751465568
|
|
NM_032737.4(LMNB2):c.1408G>A (p.Ala470Thr)
|
rs1971782310
|
|
NM_032737.4(LMNB2):c.1409C>T (p.Ala470Val)
|
|
|
NM_032737.4(LMNB2):c.1429G>A (p.Glu477Lys)
|
|
|
NM_032737.4(LMNB2):c.1444G>A (p.Glu482Lys)
|
|
|
NM_032737.4(LMNB2):c.1467G>C (p.Lys489Asn)
|
rs1599331228
|
|
NM_032737.4(LMNB2):c.1496G>T (p.Gly499Val)
|
|
|
NM_032737.4(LMNB2):c.14G>A (p.Ser5Asn)
|
|
|
NM_032737.4(LMNB2):c.14G>T (p.Ser5Ile)
|
rs933753487
|
|
NM_032737.4(LMNB2):c.1528G>T (p.Gly510Trp)
|
rs779010033
|
|
NM_032737.4(LMNB2):c.1540G>A (p.Ala514Thr)
|
|
|
NM_032737.4(LMNB2):c.1564A>G (p.Ile522Val)
|
|
|
NM_032737.4(LMNB2):c.157C>T (p.Leu53Phe)
|
rs1555684976
|
|
NM_032737.4(LMNB2):c.1585G>A (p.Val529Ile)
|
|
|
NM_032737.4(LMNB2):c.1589C>T (p.Thr530Met)
|
|
|
NM_032737.4(LMNB2):c.1603G>A (p.Gly535Ser)
|
|
|
NM_032737.4(LMNB2):c.1606G>A (p.Ala536Thr)
|
|
|
NM_032737.4(LMNB2):c.1618del (p.His540fs)
|
rs1971745538
|
|
NM_032737.4(LMNB2):c.1623C>A (p.Ser541Arg)
|
|
|
NM_032737.4(LMNB2):c.1624C>A (p.Pro542Thr)
|
rs759878071
|
|
NM_032737.4(LMNB2):c.1624C>T (p.Pro542Ser)
|
|
|
NM_032737.4(LMNB2):c.1658G>T (p.Ser553Ile)
|
|
|
NM_032737.4(LMNB2):c.1693G>C (p.Val565Leu)
|
|
|
NM_032737.4(LMNB2):c.1699G>A (p.Ala567Thr)
|
rs760189690
|
|
NM_032737.4(LMNB2):c.16C>T (p.Pro6Ser)
|
rs900966872
|
|
NM_032737.4(LMNB2):c.1706G>A (p.Gly569Asp)
|
rs745499299
|
|
NM_032737.4(LMNB2):c.1720A>G (p.Met574Val)
|
rs1209932416
|
|
NM_032737.4(LMNB2):c.1729G>A (p.Val577Met)
|
|
|
NM_032737.4(LMNB2):c.1744G>A (p.Val582Met)
|
|
|
NM_032737.4(LMNB2):c.1755G>C (p.Glu585Asp)
|
|
|
NM_032737.4(LMNB2):c.1776GGA[2] (p.Glu595del)
|
rs777407254
|
|
NM_032737.4(LMNB2):c.177C>A (p.His59Gln)
|
rs1437745175
|
|
NM_032737.4(LMNB2):c.1787C>G (p.Ala596Gly)
|
|
|
NM_032737.4(LMNB2):c.1822G>A (p.Gly608Arg)
|
rs1971731802
|
|
NM_032737.4(LMNB2):c.1835C>T (p.Thr612Ile)
|
|
|
NM_032737.4(LMNB2):c.1847G>T (p.Gly616Val)
|
|
|
NM_032737.4(LMNB2):c.260G>A (p.Arg87His)
|
|
|
NM_032737.4(LMNB2):c.264+5G>T
|
|
|
NM_032737.4(LMNB2):c.272G>A (p.Gly91Asp)
|
|
|
NM_032737.4(LMNB2):c.281C>G (p.Ala94Gly)
|
|
|
NM_032737.4(LMNB2):c.284T>G (p.Leu95Arg)
|
rs2145462859
|
|
NM_032737.4(LMNB2):c.293C>T (p.Ser98Leu)
|
|
|
NM_032737.4(LMNB2):c.29G>T (p.Arg10Leu)
|
rs984068789
|
|
NM_032737.4(LMNB2):c.302C>T (p.Ala101Val)
|
rs2145462818
|
|
NM_032737.4(LMNB2):c.310C>G (p.Arg104Gly)
|
|
|
NM_032737.4(LMNB2):c.310C>T (p.Arg104Trp)
|
rs150333146
|
|
NM_032737.4(LMNB2):c.311G>A (p.Arg104Gln)
|
rs1004998035
|
|
NM_032737.4(LMNB2):c.311G>T (p.Arg104Leu)
|
rs1004998035
|
|
NM_032737.4(LMNB2):c.331G>T (p.Ala111Ser)
|
rs1599338116
|
|
NM_032737.4(LMNB2):c.35A>C (p.Gln12Pro)
|
rs1972098113
|
|
NM_032737.4(LMNB2):c.37C>T (p.Arg13Cys)
|
rs1296402064
|
|
NM_032737.4(LMNB2):c.391G>A (p.Val131Ile)
|
|
|
NM_032737.4(LMNB2):c.395_396delinsTA (p.Asn132Ile)
|
|
|
NM_032737.4(LMNB2):c.402-18_402-3del
|
rs1971855692
|
|
NM_032737.4(LMNB2):c.402C>A (p.Ser134Arg)
|
rs148213507
|
|
NM_032737.4(LMNB2):c.404C>T (p.Ala135Val)
|
|
|
NM_032737.4(LMNB2):c.40A>G (p.Arg14Gly)
|
|
|
NM_032737.4(LMNB2):c.418G>A (p.Gly140Ser)
|
rs1279810346
|
|
NM_032737.4(LMNB2):c.437A>G (p.Gln146Arg)
|
|
|
NM_032737.4(LMNB2):c.43C>T (p.Pro15Ser)
|
rs2145479547
|
|
NM_032737.4(LMNB2):c.457G>A (p.Glu153Lys)
|
rs1568204139
|
|
NM_032737.4(LMNB2):c.477C>A (p.Ser159Arg)
|
rs923000484
|
|
NM_032737.4(LMNB2):c.477C>G (p.Ser159Arg)
|
|
|
NM_032737.4(LMNB2):c.481G>A (p.Val161Met)
|
|
|
NM_032737.4(LMNB2):c.481G>C (p.Val161Leu)
|
rs752878483
|
|
NM_032737.4(LMNB2):c.493G>T (p.Ala165Ser)
|
rs751675653
|
|
NM_032737.4(LMNB2):c.49G>T (p.Ala17Ser)
|
rs1374097743
|
|
NM_032737.4(LMNB2):c.503G>A (p.Ser168Asn)
|
|
|
NM_032737.4(LMNB2):c.512G>T (p.Arg171Leu)
|
rs776205964
|
|
NM_032737.4(LMNB2):c.517C>A (p.Leu173Met)
|
rs771818418
|
|
NM_032737.4(LMNB2):c.53C>T (p.Ala18Val)
|
|
|
NM_032737.4(LMNB2):c.559-2A>G
|
rs1971851890
|
|
NM_032737.4(LMNB2):c.568G>A (p.Gly190Ser)
|
|
|
NM_032737.4(LMNB2):c.568G>C (p.Gly190Arg)
|
|
|
NM_032737.4(LMNB2):c.572A>G (p.His191Arg)
|
rs1971851658
|
|
NM_032737.4(LMNB2):c.592C>A (p.Leu198Met)
|
rs1971851307
|
|
NM_032737.4(LMNB2):c.605C>T (p.Thr202Met)
|
rs763985079
|
|
NM_032737.4(LMNB2):c.617T>C (p.Val206Ala)
|
rs1971850872
|
|
NM_032737.4(LMNB2):c.631C>T (p.Arg211Cys)
|
|
|
NM_032737.4(LMNB2):c.658G>C (p.Asp220His)
|
rs1568203965
|
|
NM_032737.4(LMNB2):c.684+1G>A
|
rs2145454060
|
|
NM_032737.4(LMNB2):c.684+3G>A
|
rs2145454055
|
|
NM_032737.4(LMNB2):c.687G>T (p.Glu229Asp)
|
|
|
NM_032737.4(LMNB2):c.694G>A (p.Glu232Lys)
|
rs1971807508
|
|
NM_032737.4(LMNB2):c.701G>A (p.Arg234Gln)
|
|
|
NM_032737.4(LMNB2):c.705_719del (p.Arg236_Arg240del)
|
rs2145449457
|
|
NM_032737.4(LMNB2):c.707G>A (p.Arg236Gln)
|
|
|
NM_032737.4(LMNB2):c.713A>T (p.Glu238Val)
|
rs2145449474
|
|
NM_032737.4(LMNB2):c.716G>A (p.Arg239Gln)
|
|
|
NM_032737.4(LMNB2):c.719G>A (p.Arg240His)
|
|
|
NM_032737.4(LMNB2):c.733G>A (p.Asp245Asn)
|
rs2145449419
|
|
NM_032737.4(LMNB2):c.739A>C (p.Ser247Arg)
|
|
|
NM_032737.4(LMNB2):c.73C>G (p.Leu25Val)
|
|
|
NM_032737.4(LMNB2):c.757_759del (p.Asp253del)
|
rs780771322
|
|
NM_032737.4(LMNB2):c.772C>T (p.Gln258Ter)
|
rs2145449340
|
|
NM_032737.4(LMNB2):c.814C>T (p.Arg272Trp)
|
|
|
NM_032737.4(LMNB2):c.836A>T (p.Glu279Val)
|
|
|
NM_032737.4(LMNB2):c.843C>G (p.Thr281=)
|
rs1043055908
|
|
NM_032737.4(LMNB2):c.863G>A (p.Ser288Asn)
|
rs1971801033
|
|
NM_032737.4(LMNB2):c.886A>C (p.Asn296His)
|
rs1568202409
|
|
NM_032737.4(LMNB2):c.8C>G (p.Pro3Arg)
|
rs1972098760
|
|
NM_032737.4(LMNB2):c.931C>T (p.Arg311Cys)
|
|
|
NM_032737.4(LMNB2):c.949C>T (p.Leu317Phe)
|
|
|
NM_032737.4(LMNB2):c.955T>C (p.Tyr319His)
|
rs1971799552
|
|
NM_032737.4(LMNB2):c.991G>A (p.Ala331Thr)
|
rs1437865965
|
|
NM_153026.3(PRICKLE1):c.101C>T (p.Ala34Val)
|
rs139176541
|
|
NM_153026.3(PRICKLE1):c.1032T>G (p.Asp344Glu)
|
|
|
NM_153026.3(PRICKLE1):c.1036T>C (p.Cys346Arg)
|
|
|
NM_153026.3(PRICKLE1):c.1060C>T (p.Pro354Ser)
|
rs1938033219
|
|
NM_153026.3(PRICKLE1):c.1088_1089delinsAT (p.Leu363His)
|
rs1938031733
|
|
NM_153026.3(PRICKLE1):c.10G>A (p.Glu4Lys)
|
|
|
NM_153026.3(PRICKLE1):c.1109C>A (p.Thr370Asn)
|
|
|
NM_153026.3(PRICKLE1):c.1124T>C (p.Leu375Ser)
|
rs1239638305
|
|
NM_153026.3(PRICKLE1):c.1137T>A (p.Ser379Arg)
|
rs1938026797
|
|
NM_153026.3(PRICKLE1):c.1154C>T (p.Thr385Ile)
|
rs2140101481
|
|
NM_153026.3(PRICKLE1):c.1173A>C (p.Glu391Asp)
|
rs1938025035
|
|
NM_153026.3(PRICKLE1):c.1192G>C (p.Glu398Gln)
|
rs2140101412
|
|
NM_153026.3(PRICKLE1):c.1213C>G (p.Pro405Ala)
|
|
|
NM_153026.3(PRICKLE1):c.1219G>A (p.Glu407Lys)
|
rs2140101302
|
|
NM_153026.3(PRICKLE1):c.1230T>A (p.Asp410Glu)
|
|
|
NM_153026.3(PRICKLE1):c.1240T>C (p.Tyr414His)
|
rs1938022245
|
|
NM_153026.3(PRICKLE1):c.1255C>T (p.Leu419Phe)
|
rs1261183051
|
|
NM_153026.3(PRICKLE1):c.1258C>T (p.Leu420Phe)
|
rs2140101132
|
|
NM_153026.3(PRICKLE1):c.1271A>G (p.Asp424Gly)
|
rs1938019653
|
|
NM_153026.3(PRICKLE1):c.1276A>G (p.Ser426Gly)
|
|
|
NM_153026.3(PRICKLE1):c.1288C>T (p.Pro430Ser)
|
rs1311851345
|
|
NM_153026.3(PRICKLE1):c.1299T>A (p.Asn433Lys)
|
|
|
NM_153026.3(PRICKLE1):c.1302G>T (p.Glu434Asp)
|
|
|
NM_153026.3(PRICKLE1):c.1304T>C (p.Met435Thr)
|
|
|
NM_153026.3(PRICKLE1):c.1313G>C (p.Arg438Pro)
|
rs1306531699
|
|
NM_153026.3(PRICKLE1):c.132+3dup
|
|
|
NM_153026.3(PRICKLE1):c.1327T>C (p.Trp443Arg)
|
rs767486612
|
|
NM_153026.3(PRICKLE1):c.1330A>G (p.Ile444Val)
|
rs146199468
|
|
NM_153026.3(PRICKLE1):c.1345G>T (p.Val449Phe)
|
|
|
NM_153026.3(PRICKLE1):c.1346T>C (p.Val449Ala)
|
|
|
NM_153026.3(PRICKLE1):c.139del (p.Leu47fs)
|
rs1555230922
|
|
NM_153026.3(PRICKLE1):c.1413_1414delinsTC (p.Met471_Tyr472delinsIleHis)
|
rs1060502985
|
|
NM_153026.3(PRICKLE1):c.1424A>G (p.Gln475Arg)
|
|
|
NM_153026.3(PRICKLE1):c.1425G>T (p.Gln475His)
|
rs1938007089
|
|
NM_153026.3(PRICKLE1):c.1474G>A (p.Ala492Thr)
|
rs2140100316
|
|
NM_153026.3(PRICKLE1):c.1522G>C (p.Gly508Arg)
|
rs1937999932
|
|
NM_153026.3(PRICKLE1):c.1543C>T (p.Gln515Ter)
|
rs1937999343
|
|
NM_153026.3(PRICKLE1):c.154T>G (p.Leu52Val)
|
|
|
NM_153026.3(PRICKLE1):c.1571_1573dup (p.Leu524dup)
|
rs1937998007
|
|
NM_153026.3(PRICKLE1):c.1595G>A (p.Ser532Asn)
|
rs778765052
|
|
NM_153026.3(PRICKLE1):c.1600C>T (p.Arg534Trp)
|
rs936545109
|
|
NM_153026.3(PRICKLE1):c.1613A>G (p.Asp538Gly)
|
|
|
NM_153026.3(PRICKLE1):c.1621G>T (p.Ala541Ser)
|
rs763169354
|
|
NM_153026.3(PRICKLE1):c.162G>A (p.Glu54=)
|
rs1593113981
|
|
NM_153026.3(PRICKLE1):c.162G>T (p.Glu54Asp)
|
rs1593113981
|
|
NM_153026.3(PRICKLE1):c.1640-14G>A
|
rs2140088689
|
|
NM_153026.3(PRICKLE1):c.1640G>A (p.Gly547Glu)
|
|
|
NM_153026.3(PRICKLE1):c.1655G>A (p.Gly552Glu)
|
rs1055556905
|
|
NM_153026.3(PRICKLE1):c.1660A>C (p.Asn554His)
|
|
|
NM_153026.3(PRICKLE1):c.1688T>C (p.Leu563Pro)
|
rs1002543932
|
|
NM_153026.3(PRICKLE1):c.1714_1715del (p.Glu572fs)
|
rs2140088272
|
|
NM_153026.3(PRICKLE1):c.1736A>G (p.Asn579Ser)
|
|
|
NM_153026.3(PRICKLE1):c.1767C>G (p.His589Gln)
|
|
|
NM_153026.3(PRICKLE1):c.1771A>G (p.Ser591Gly)
|
rs1593100814
|
|
NM_153026.3(PRICKLE1):c.1788G>T (p.Lys596Asn)
|
rs1937785933
|
|
NM_153026.3(PRICKLE1):c.1799C>T (p.Ser600Leu)
|
|
|
NM_153026.3(PRICKLE1):c.1807T>C (p.Cys603Arg)
|
rs1937784313
|
|
NM_153026.3(PRICKLE1):c.1826C>T (p.Pro609Leu)
|
rs1937783195
|
|
NM_153026.3(PRICKLE1):c.1858A>G (p.Arg620Gly)
|
|
|
NM_153026.3(PRICKLE1):c.1868A>G (p.Lys623Arg)
|
rs1937780289
|
|
NM_153026.3(PRICKLE1):c.1869G>C (p.Lys623Asn)
|
rs150809651
|
|
NM_153026.3(PRICKLE1):c.1899T>G (p.Phe633Leu)
|
rs3747563
|
|
NM_153026.3(PRICKLE1):c.1901_1902delinsGC (p.Ser634Cys)
|
|
|
NM_153026.3(PRICKLE1):c.191G>A (p.Gly64Glu)
|
|
|
NM_153026.3(PRICKLE1):c.1942C>T (p.Arg648Trp)
|
rs370129051
|
|
NM_153026.3(PRICKLE1):c.1943G>A (p.Arg648Gln)
|
rs1937776331
|
|
NM_153026.3(PRICKLE1):c.1952C>T (p.Pro651Leu)
|
rs750913400
|
|
NM_153026.3(PRICKLE1):c.1956G>T (p.Met652Ile)
|
rs2140087105
|
|
NM_153026.3(PRICKLE1):c.1970G>A (p.Arg657Gln)
|
|
|
NM_153026.3(PRICKLE1):c.1985_1996delinsG (p.Asn662fs)
|
rs1937772079
|
|
NM_153026.3(PRICKLE1):c.199C>A (p.His67Asn)
|
rs2140119023
|
|
NM_153026.3(PRICKLE1):c.2012A>T (p.His671Leu)
|
rs1555229335
|
|
NM_153026.3(PRICKLE1):c.2020C>T (p.Arg674Cys)
|
|
|
NM_153026.3(PRICKLE1):c.2021G>A (p.Arg674His)
|
rs748173327
|
|
NM_153026.3(PRICKLE1):c.2026C>T (p.Arg676Trp)
|
rs779314205
|
|
NM_153026.3(PRICKLE1):c.202C>T (p.Arg68Trp)
|
|
|
NM_153026.3(PRICKLE1):c.2031A>T (p.Arg677Ser)
|
|
|
NM_153026.3(PRICKLE1):c.2050G>A (p.Asp684Asn)
|
|
|
NM_153026.3(PRICKLE1):c.2054A>G (p.Asn685Ser)
|
|
|
NM_153026.3(PRICKLE1):c.205A>G (p.Ile69Val)
|
rs1938264291
|
|
NM_153026.3(PRICKLE1):c.2089C>T (p.Pro697Ser)
|
rs781672373
|
|
NM_153026.3(PRICKLE1):c.2097C>A (p.Asp699Glu)
|
rs1555229289
|
|
NM_153026.3(PRICKLE1):c.2107C>G (p.Leu703Val)
|
rs1937760935
|
|
NM_153026.3(PRICKLE1):c.2111A>T (p.Tyr704Phe)
|
|
|
NM_153026.3(PRICKLE1):c.2116C>T (p.Pro706Ser)
|
|
|
NM_153026.3(PRICKLE1):c.2122A>G (p.Asn708Asp)
|
rs371991440
|
|
NM_153026.3(PRICKLE1):c.2141_2142delinsTT (p.Gln714Leu)
|
rs1937756868
|
|
NM_153026.3(PRICKLE1):c.2145T>A (p.Asn715Lys)
|
|
|
NM_153026.3(PRICKLE1):c.214C>G (p.Leu72Val)
|
rs925234164
|
|
NM_153026.3(PRICKLE1):c.2156G>T (p.Arg719Leu)
|
rs779059953
|
|
NM_153026.3(PRICKLE1):c.2163C>G (p.Ile721Met)
|
rs1273178828
|
|
NM_153026.3(PRICKLE1):c.2195_2203del (p.Gly732_Tyr734del)
|
rs1333451337
|
|
NM_153026.3(PRICKLE1):c.220T>A (p.Tyr74Asn)
|
|
|
NM_153026.3(PRICKLE1):c.2218G>A (p.Asp740Asn)
|
|
|
NM_153026.3(PRICKLE1):c.2218G>T (p.Asp740Tyr)
|
rs760738396
|
|
NM_153026.3(PRICKLE1):c.2225G>T (p.Gly742Val)
|
rs1180000042
|
|
NM_153026.3(PRICKLE1):c.2245A>C (p.Asn749His)
|
rs1937748497
|
|
NM_153026.3(PRICKLE1):c.2255T>C (p.Leu752Pro)
|
rs2140085364
|
|
NM_153026.3(PRICKLE1):c.2266G>C (p.Gly756Arg)
|
rs777019107
|
|
NM_153026.3(PRICKLE1):c.2272GAT[2] (p.Asp760del)
|
rs557205452
|
|
NM_153026.3(PRICKLE1):c.2297C>T (p.Ser766Phe)
|
rs1937743406
|
|
NM_153026.3(PRICKLE1):c.2324A>G (p.Glu775Gly)
|
rs1239945627
|
|
NM_153026.3(PRICKLE1):c.2360G>A (p.Arg787Gln)
|
rs776819993
|
|
NM_153026.3(PRICKLE1):c.237T>G (p.His79Gln)
|
rs2140118839
|
|
NM_153026.3(PRICKLE1):c.2401C>T (p.Pro801Ser)
|
|
|
NM_153026.3(PRICKLE1):c.2413C>G (p.Leu805Val)
|
rs2140084269
|
|
NM_153026.3(PRICKLE1):c.2420C>T (p.Thr807Ile)
|
|
|
NM_153026.3(PRICKLE1):c.2423C>T (p.Pro808Leu)
|
rs2140084244
|
|
NM_153026.3(PRICKLE1):c.2458A>C (p.Lys820Gln)
|
rs1342604313
|
|
NM_153026.3(PRICKLE1):c.2459A>G (p.Lys820Arg)
|
rs1798772229
|
|
NM_153026.3(PRICKLE1):c.2473G>A (p.Gly825Ser)
|
rs1555229171
|
|
NM_153026.3(PRICKLE1):c.250C>T (p.Arg84Trp)
|
rs775472022
|
|
NM_153026.3(PRICKLE1):c.266T>A (p.Leu89Ter)
|
rs868235074
|
|
NM_153026.3(PRICKLE1):c.274G>A (p.Glu92Lys)
|
|
|
NM_153026.3(PRICKLE1):c.27G>A (p.Met9Ile)
|
rs1938365238
|
|
NM_153026.3(PRICKLE1):c.287_288del (p.Glu96fs)
|
rs1938233902
|
|
NM_153026.3(PRICKLE1):c.319G>C (p.Glu107Gln)
|
rs1938232548
|
|
NM_153026.3(PRICKLE1):c.341T>C (p.Ile114Thr)
|
|
|
NM_153026.3(PRICKLE1):c.364A>G (p.Met122Val)
|
rs1343849513
|
|
NM_153026.3(PRICKLE1):c.379_380insT (p.Glu127fs)
|
rs1938228955
|
|
NM_153026.3(PRICKLE1):c.384+3G>A
|
rs2140116219
|
|
NM_153026.3(PRICKLE1):c.384+6C>A
|
rs764025084
|
|
NM_153026.3(PRICKLE1):c.399A>G (p.Ile133Met)
|
|
|
NM_153026.3(PRICKLE1):c.3G>A (p.Met1Ile)
|
rs1593116403
|
|
NM_153026.3(PRICKLE1):c.406G>A (p.Gly136Ser)
|
rs773739764
|
|
NM_153026.3(PRICKLE1):c.415G>A (p.Ala139Thr)
|
rs1938205447
|
|
NM_153026.3(PRICKLE1):c.430C>T (p.Arg144Cys)
|
rs1284958285
|
|
NM_153026.3(PRICKLE1):c.431G>T (p.Arg144Leu)
|
rs281865563
|
|
NM_153026.3(PRICKLE1):c.433G>A (p.Ala145Thr)
|
rs1938203596
|
|
NM_153026.3(PRICKLE1):c.439C>T (p.Pro147Ser)
|
rs1938202392
|
|
NM_153026.3(PRICKLE1):c.448T>C (p.Cys150Arg)
|
rs1566084587
|
|
NM_153026.3(PRICKLE1):c.458del (p.Pro153fs)
|
|
|
NM_153026.3(PRICKLE1):c.461C>T (p.Ser154Phe)
|
rs1938200477
|
|
NM_153026.3(PRICKLE1):c.473del (p.Cys158fs)
|
rs1938199369
|
|
NM_153026.3(PRICKLE1):c.499G>A (p.Asp167Asn)
|
rs2140113781
|
|
NM_153026.3(PRICKLE1):c.509A>G (p.Tyr170Cys)
|
rs771717707
|
|
NM_153026.3(PRICKLE1):c.540C>T (p.Gly180=)
|
rs1938195548
|
|
NM_153026.3(PRICKLE1):c.55A>G (p.Ser19Gly)
|
|
|
NM_153026.3(PRICKLE1):c.568C>T (p.Arg190Trp)
|
rs2140113478
|
|
NM_153026.3(PRICKLE1):c.586G>A (p.Glu196Lys)
|
rs759969939
|
|
NM_153026.3(PRICKLE1):c.588+5A>C
|
rs1593111486
|
|
NM_153026.3(PRICKLE1):c.588+6A>C
|
|
|
NM_153026.3(PRICKLE1):c.590T>C (p.Ile197Thr)
|
rs542029566
|
|
NM_153026.3(PRICKLE1):c.611C>T (p.Thr204Ile)
|
|
|
NM_153026.3(PRICKLE1):c.689A>G (p.Tyr230Cys)
|
rs773561952
|
|
NM_153026.3(PRICKLE1):c.707G>T (p.Arg236Leu)
|
rs1457774536
|
|
NM_153026.3(PRICKLE1):c.713T>C (p.Phe238Ser)
|
rs796052930
|
|
NM_153026.3(PRICKLE1):c.718T>A (p.Cys240Ser)
|
|
|
NM_153026.3(PRICKLE1):c.72T>G (p.Asp24Glu)
|
rs1566087431
|
|
NM_153026.3(PRICKLE1):c.740A>G (p.Tyr247Cys)
|
|
|
NM_153026.3(PRICKLE1):c.743C>T (p.Ala248Val)
|
rs1566082169
|
|
NM_153026.3(PRICKLE1):c.746A>C (p.Glu249Ala)
|
|
|
NM_153026.3(PRICKLE1):c.758_759delinsAA (p.Thr253Lys)
|
|
|
NM_153026.3(PRICKLE1):c.764G>A (p.Gly255Glu)
|
|
|
NM_153026.3(PRICKLE1):c.772A>G (p.Ile258Val)
|
|
|
NM_153026.3(PRICKLE1):c.773T>C (p.Ile258Thr)
|
rs1938088327
|
|
NM_153026.3(PRICKLE1):c.774T>C (p.Ile258=)
|
|
|
NM_153026.3(PRICKLE1):c.775+3A>G
|
|
|
NM_153026.3(PRICKLE1):c.776G>A (p.Gly259Asp)
|
rs1555230194
|
|
NM_153026.3(PRICKLE1):c.817C>T (p.His273Tyr)
|
|
|
NM_153026.3(PRICKLE1):c.820G>C (p.Ala274Pro)
|
rs762434475
|
|
NM_153026.3(PRICKLE1):c.838T>G (p.Ser280Ala)
|
|
|
NM_153026.3(PRICKLE1):c.853A>C (p.Lys285Gln)
|
rs1555230175
|
|
NM_153026.3(PRICKLE1):c.898A>C (p.Ile300Leu)
|
rs1938042825
|
|
NM_153026.3(PRICKLE1):c.8del (p.Leu3fs)
|
rs754532709
|
|
NM_153026.3(PRICKLE1):c.910A>C (p.Lys304Gln)
|
rs202205425
|
|
NM_153026.3(PRICKLE1):c.949dup (p.Ser317fs)
|
rs1938040051
|
|
NM_153026.3(PRICKLE1):c.986A>G (p.Asp329Gly)
|
rs1046367995
|
|
NM_153026.3(PRICKLE1):c.987C>G (p.Asp329Glu)
|
rs1938037593
|
|
NM_153026.3(PRICKLE1):c.997A>G (p.Ser333Gly)
|
rs1938037090
|
|
NM_153033.5(KCTD7):c.104_115del (p.Ala35_Ala38del)
|
rs778647590
|
|
NM_153033.5(KCTD7):c.109C>G (p.Gln37Glu)
|
|
|
NM_153033.5(KCTD7):c.113C>T (p.Ala38Val)
|
rs373655601
|
|
NM_153033.5(KCTD7):c.128C>T (p.Pro43Leu)
|
|
|
NM_153033.5(KCTD7):c.143A>G (p.Glu48Gly)
|
|
|
NM_153033.5(KCTD7):c.144+3A>G
|
rs1584392905
|
|
NM_153033.5(KCTD7):c.144+4C>A
|
rs757018925
|
|
NM_153033.5(KCTD7):c.144G>A (p.Glu48=)
|
rs2116755708
|
|
NM_153033.5(KCTD7):c.147T>G (p.Phe49Leu)
|
rs2116763687
|
|
NM_153033.5(KCTD7):c.148C>G (p.Pro50Ala)
|
rs1476493354
|
|
NM_153033.5(KCTD7):c.14C>G (p.Thr5Arg)
|
rs1346070646
|
|
NM_153033.5(KCTD7):c.152A>T (p.Glu51Val)
|
rs2116763702
|
|
NM_153033.5(KCTD7):c.153G>T (p.Glu51Asp)
|
rs2116763706
|
|
NM_153033.5(KCTD7):c.154G>T (p.Val52Phe)
|
rs2116763711
|
|
NM_153033.5(KCTD7):c.158T>C (p.Val53Ala)
|
rs2116763713
|
|
NM_153033.5(KCTD7):c.169A>G (p.Ile57Val)
|
|
|
NM_153033.5(KCTD7):c.181C>G (p.His61Asp)
|
rs368018261
|
|
NM_153033.5(KCTD7):c.188C>T (p.Thr63Ile)
|
rs1258782993
|
|
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp)
|
rs867319899
|
|
NM_153033.5(KCTD7):c.224C>T (p.Thr75Ile)
|
|
|
NM_153033.5(KCTD7):c.231G>T (p.Leu77Phe)
|
rs1786499355
|
|
NM_153033.5(KCTD7):c.235G>A (p.Ala79Thr)
|
|
|
NM_153033.5(KCTD7):c.238A>G (p.Met80Val)
|
rs1554397798
|
|
NM_153033.5(KCTD7):c.278G>A (p.Gly93Asp)
|
rs373509859
|
|
NM_153033.5(KCTD7):c.278G>C (p.Gly93Ala)
|
rs373509859
|
|
NM_153033.5(KCTD7):c.296G>T (p.Arg99Leu)
|
rs1275877072
|
|
NM_153033.5(KCTD7):c.308A>G (p.His103Arg)
|
rs2116764091
|
|
NM_153033.5(KCTD7):c.335G>A (p.Arg112His)
|
rs774026720
|
|
NM_153033.5(KCTD7):c.35G>T (p.Arg12Leu)
|
rs763423181
|
|
NM_153033.5(KCTD7):c.362G>A (p.Arg121His)
|
rs199624315
|
|
NM_153033.5(KCTD7):c.371C>G (p.Ala124Gly)
|
rs1786632902
|
|
NM_153033.5(KCTD7):c.385G>A (p.Ala129Thr)
|
|
|
NM_153033.5(KCTD7):c.419A>G (p.Gln140Arg)
|
|
|
NM_153033.5(KCTD7):c.428A>G (p.Asn143Ser)
|
rs1786634540
|
|
NM_153033.5(KCTD7):c.431T>A (p.Met144Lys)
|
|
|
NM_153033.5(KCTD7):c.440T>C (p.Leu147Pro)
|
rs775109352
|
|
NM_153033.5(KCTD7):c.448G>A (p.Glu150Lys)
|
|
|
NM_153033.5(KCTD7):c.457C>T (p.Arg153Cys)
|
rs761707159
|
|
NM_153033.5(KCTD7):c.45C>A (p.Asp15Glu)
|
rs751937729
|
|
NM_153033.5(KCTD7):c.463G>A (p.Ala155Thr)
|
rs2116774076
|
|
NM_153033.5(KCTD7):c.46G>A (p.Gly16Ser)
|
rs1450028260
|
|
NM_153033.5(KCTD7):c.46G>T (p.Gly16Cys)
|
rs1450028260
|
|
NM_153033.5(KCTD7):c.472G>A (p.Gly158Arg)
|
|
|
NM_153033.5(KCTD7):c.485A>T (p.Tyr162Phe)
|
rs2116774109
|
|
NM_153033.5(KCTD7):c.493+3G>C
|
|
|
NM_153033.5(KCTD7):c.494A>G (p.Asp165Gly)
|
|
|
NM_153033.5(KCTD7):c.501G>C (p.Leu167Phe)
|
|
|
NM_153033.5(KCTD7):c.505C>T (p.Arg169Trp)
|
|
|
NM_153033.5(KCTD7):c.517A>C (p.Ile173Leu)
|
|
|
NM_153033.5(KCTD7):c.523C>G (p.Arg175Gly)
|
rs568539835
|
|
NM_153033.5(KCTD7):c.536T>C (p.Val179Ala)
|
rs1362176294
|
|
NM_153033.5(KCTD7):c.53T>A (p.Met18Lys)
|
rs777578179
|
|
NM_153033.5(KCTD7):c.601C>A (p.Pro201Thr)
|
rs2116775195
|
|
NM_153033.5(KCTD7):c.605A>G (p.Tyr202Cys)
|
rs1786649598
|
|
NM_153033.5(KCTD7):c.611G>A (p.Cys204Tyr)
|
rs1786649821
|
|
NM_153033.5(KCTD7):c.616C>A (p.Leu206Ile)
|
|
|
NM_153033.5(KCTD7):c.628C>G (p.Leu210Val)
|
|
|
NM_153033.5(KCTD7):c.636T>A (p.Phe212Leu)
|
rs752360120
|
|
NM_153033.5(KCTD7):c.636T>G (p.Phe212Leu)
|
rs752360120
|
|
NM_153033.5(KCTD7):c.64G>A (p.Asp22Asn)
|
rs1390049689
|
|
NM_153033.5(KCTD7):c.650G>A (p.Ser217Asn)
|
rs1786651523
|
|
NM_153033.5(KCTD7):c.681A>T (p.Glu227Asp)
|
|
|
NM_153033.5(KCTD7):c.698G>A (p.Gly233Glu)
|
rs2116775521
|
|
NM_153033.5(KCTD7):c.704G>C (p.Trp235Ser)
|
rs796052689
|
|
NM_153033.5(KCTD7):c.710C>G (p.Ala237Gly)
|
rs1584399776
|
|
NM_153033.5(KCTD7):c.71A>G (p.Glu24Gly)
|
rs2116755505
|
|
NM_153033.5(KCTD7):c.758C>T (p.Ser253Leu)
|
rs761940050
|
|
NM_153033.5(KCTD7):c.759G>A (p.Ser253=)
|
rs146540578
|
|
NM_153033.5(KCTD7):c.769C>G (p.Leu257Val)
|
rs1554300955
|
|
NM_153033.5(KCTD7):c.773C>A (p.Thr258Asn)
|
rs1786653994
|
|
NM_153033.5(KCTD7):c.77A>G (p.Asp26Gly)
|
|
|
NM_153033.5(KCTD7):c.784C>G (p.Gln262Glu)
|
rs886043127
|
|
NM_153033.5(KCTD7):c.790A>C (p.Ile264Leu)
|
rs763830869
|
|
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg)
|
rs200415747
|
|
NM_153033.5(KCTD7):c.796G>T (p.Val266Leu)
|
rs1297799073
|
|
NM_153033.5(KCTD7):c.807G>T (p.Lys269Asn)
|
|
|
NM_153033.5(KCTD7):c.811C>G (p.Leu271Val)
|
rs2116775776
|
|
NM_153033.5(KCTD7):c.821A>G (p.His274Arg)
|
rs2116775801
|
|
NM_153033.5(KCTD7):c.845A>G (p.Tyr282Cys)
|
rs1264632322
|
|
NM_153033.5(KCTD7):c.857T>A (p.Ile286Asn)
|
rs2116775902
|
|
NM_153033.5(KCTD7):c.861_863del (p.Trp289del)
|
rs2116775918
|
|
NM_153033.5(KCTD7):c.98_109del (p.Pro33_Thr36del)
|
rs753399965
|
|
NM_178013.4(PRIMA1):c.102_103inv (p.Gly35Ser)
|
|
|
NM_178013.4(PRIMA1):c.116A>C (p.Lys39Thr)
|
rs1595225943
|
|
NM_178013.4(PRIMA1):c.149A>T (p.His50Leu)
|
rs1885313756
|
|
NM_178013.4(PRIMA1):c.151G>A (p.Val51Ile)
|
rs757100676
|
|
NM_178013.4(PRIMA1):c.164G>A (p.Arg55Gln)
|
rs1221627092
|
|
NM_178013.4(PRIMA1):c.170C>A (p.Pro57His)
|
|
|
NM_178013.4(PRIMA1):c.186_194dup (p.Pro68_Pro70dup)
|
rs1885310371
|
|
NM_178013.4(PRIMA1):c.188C>T (p.Pro63Leu)
|
|
|
NM_178013.4(PRIMA1):c.223G>A (p.Ala75Thr)
|
rs777420844
|
|
NM_178013.4(PRIMA1):c.226C>T (p.Pro76Ser)
|
|
|
NM_178013.4(PRIMA1):c.22C>G (p.Leu8Val)
|
rs2141200976
|
|
NM_178013.4(PRIMA1):c.239C>G (p.Ser80Cys)
|
|
|
NM_178013.4(PRIMA1):c.250C>G (p.Pro84Ala)
|
rs376511394
|
|
NM_178013.4(PRIMA1):c.26G>T (p.Arg9Leu)
|
rs1356463267
|
|
NM_178013.4(PRIMA1):c.272C>T (p.Ser91Leu)
|
rs1461678706
|
|
NM_178013.4(PRIMA1):c.28C>T (p.Arg10Cys)
|
rs1236227808
|
|
NM_178013.4(PRIMA1):c.29G>T (p.Arg10Leu)
|
rs971650267
|
|
NM_178013.4(PRIMA1):c.308C>T (p.Ser103Phe)
|
|
|
NM_178013.4(PRIMA1):c.313G>A (p.Val105Met)
|
rs933720150
|
|
NM_178013.4(PRIMA1):c.316T>A (p.Phe106Ile)
|
|
|
NM_178013.4(PRIMA1):c.33_34inv (p.Cys12Gly)
|
|
|
NM_178013.4(PRIMA1):c.352A>G (p.Ile118Val)
|
rs2076155343
|
|
NM_178013.4(PRIMA1):c.353T>C (p.Ile118Thr)
|
rs2076155309
|
|
NM_178013.4(PRIMA1):c.359+6T>A
|
rs371216163
|
|
NM_178013.4(PRIMA1):c.365C>T (p.Pro122Leu)
|
rs748353542
|
|
NM_178013.4(PRIMA1):c.383A>G (p.Asn128Ser)
|
|
|
NM_178013.4(PRIMA1):c.398C>T (p.Ala133Val)
|
rs548656636
|
|
NM_178013.4(PRIMA1):c.441C>A (p.Asp147Glu)
|
rs966498472
|
|
NM_178013.4(PRIMA1):c.44C>A (p.Ser15Tyr)
|
rs1472639661
|
|
NM_178013.4(PRIMA1):c.451G>C (p.Ala151Pro)
|
rs200782279
|
|
NM_178013.4(PRIMA1):c.47C>T (p.Ser16Leu)
|
rs1366936289
|
|
NM_178013.4(PRIMA1):c.82G>C (p.Gly28Arg)
|
rs750307297
|
|
NM_178013.4(PRIMA1):c.87C>A (p.Phe29Leu)
|
rs1474313538
|
|
NM_178013.4(PRIMA1):c.88G>A (p.Val30Met)
|
rs1885561822
|
|
NM_178013.4(PRIMA1):c.91C>G (p.Gln31Glu)
|
rs1449284468
|
|
NM_178013.4(PRIMA1):c.98_99delinsTA (p.Thr33Ile)
|
rs2141193915
|
|
NM_198586.3(NHLRC1):c.1008A>G (p.Ala336=)
|
|
|
NM_198586.3(NHLRC1):c.1034G>A (p.Cys345Tyr)
|
rs781739043
|
|
NM_198586.3(NHLRC1):c.1039G>A (p.Gly347Arg)
|
rs1783733675
|
|
NM_198586.3(NHLRC1):c.1076T>G (p.Val359Gly)
|
|
|
NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro)
|
rs764691077
|
|
NM_198586.3(NHLRC1):c.10G>A (p.Glu4Lys)
|
|
|
NM_198586.3(NHLRC1):c.1109C>A (p.Thr370Asn)
|
rs1422730903
|
|
NM_198586.3(NHLRC1):c.1120G>A (p.Glu374Lys)
|
rs771702699
|
|
NM_198586.3(NHLRC1):c.1183G>A (p.Gly395Arg)
|
rs753959228
|
|
NM_198586.3(NHLRC1):c.1185del (p.Ter396AspextTer?)
|
|
|
NM_198586.3(NHLRC1):c.121C>T (p.Pro41Ser)
|
|
|
NM_198586.3(NHLRC1):c.154C>G (p.Leu52Val)
|
|
|
NM_198586.3(NHLRC1):c.180C>A (p.His60Gln)
|
|
|
NM_198586.3(NHLRC1):c.182C>A (p.Pro61Gln)
|
rs1783757283
|
|
NM_198586.3(NHLRC1):c.182C>T (p.Pro61Leu)
|
rs1783757283
|
|
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys)
|
rs761458140
|
|
NM_198586.3(NHLRC1):c.185G>A (p.Arg62His)
|
rs796052754
|
|
NM_198586.3(NHLRC1):c.185G>C (p.Arg62Pro)
|
|
|
NM_198586.3(NHLRC1):c.199G>A (p.Glu67Lys)
|
rs779507031
|
|
NM_198586.3(NHLRC1):c.203G>C (p.Cys68Ser)
|
rs1783756475
|
|
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys)
|
rs1582030466
|
|
NM_198586.3(NHLRC1):c.218G>T (p.Arg73Leu)
|
rs1280991443
|
|
NM_198586.3(NHLRC1):c.226C>T (p.Arg76Trp)
|
|
|
NM_198586.3(NHLRC1):c.227G>A (p.Arg76Gln)
|
|
|
NM_198586.3(NHLRC1):c.23G>A (p.Ser8Asn)
|
rs2150703425
|
|
NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr)
|
rs1582030401
|
|
NM_198586.3(NHLRC1):c.26G>A (p.Gly9Glu)
|
|
|
NM_198586.3(NHLRC1):c.26G>T (p.Gly9Val)
|
|
|
NM_198586.3(NHLRC1):c.272A>G (p.Glu91Gly)
|
|
|
NM_198586.3(NHLRC1):c.293G>T (p.Arg98Leu)
|
rs1340355518
|
|
NM_198586.3(NHLRC1):c.301C>T (p.Pro101Ser)
|
rs1484414595
|
|
NM_198586.3(NHLRC1):c.307G>A (p.Ala103Thr)
|
rs568131096
|
|
NM_198586.3(NHLRC1):c.314G>T (p.Arg105Leu)
|
rs1166657109
|
|
NM_198586.3(NHLRC1):c.317C>G (p.Ala106Gly)
|
rs1255416149
|
|
NM_198586.3(NHLRC1):c.319G>C (p.Ala107Pro)
|
rs796052755
|
|
NM_198586.3(NHLRC1):c.323C>G (p.Pro108Arg)
|
rs1783752059
|
|
NM_198586.3(NHLRC1):c.34_35delinsGG (p.Leu12Gly)
|
rs2150703412
|
|
NM_198586.3(NHLRC1):c.356C>T (p.Thr119Ile)
|
rs1783751214
|
|
NM_198586.3(NHLRC1):c.392G>T (p.Gly131Val)
|
rs1783749949
|
|
NM_198586.3(NHLRC1):c.394C>A (p.Leu132Met)
|
rs1367848969
|
|
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr)
|
rs886061254
|
|
NM_198586.3(NHLRC1):c.39T>G (p.His13Gln)
|
rs2150703410
|
|
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser)
|
rs1561882043
|
|
NM_198586.3(NHLRC1):c.407C>T (p.Pro136Leu)
|
rs1783749565
|
|
NM_198586.3(NHLRC1):c.423_425del (p.Val144del)
|
rs1783748374
|
|
NM_198586.3(NHLRC1):c.434A>C (p.His145Pro)
|
rs1783748075
|
|
NM_198586.3(NHLRC1):c.449G>A (p.Arg150His)
|
rs749599233
|
|
NM_198586.3(NHLRC1):c.452T>A (p.Val151Asp)
|
|
|
NM_198586.3(NHLRC1):c.454A>G (p.Lys152Glu)
|
|
|
NM_198586.3(NHLRC1):c.456G>C (p.Lys152Asn)
|
rs2150703098
|
|
NM_198586.3(NHLRC1):c.469G>A (p.Gly157Arg)
|
|
|
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu)
|
rs781300542
|
|
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro)
|
rs1217974765
|
|
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu)
|
rs1554136449
|
|
NM_198586.3(NHLRC1):c.4_5delinsAA (p.Ala2Lys)
|
rs796052757
|
|
NM_198586.3(NHLRC1):c.519C>T (p.Asp173=)
|
|
|
NM_198586.3(NHLRC1):c.52G>A (p.Glu18Lys)
|
rs771805307
|
|
NM_198586.3(NHLRC1):c.551A>C (p.Asn184Thr)
|
|
|
NM_198586.3(NHLRC1):c.553G>C (p.Asp185His)
|
|
|
NM_198586.3(NHLRC1):c.565G>T (p.Val189Phe)
|
|
|
NM_198586.3(NHLRC1):c.637G>A (p.Gly213Ser)
|
rs1783743169
|
|
NM_198586.3(NHLRC1):c.642A>T (p.Gln214His)
|
rs754756237
|
|
NM_198586.3(NHLRC1):c.646T>G (p.Ser216Ala)
|
|
|
NM_198586.3(NHLRC1):c.659G>T (p.Gly220Val)
|
rs1449381352
|
|
NM_198586.3(NHLRC1):c.677A>T (p.Gln226Leu)
|
rs1783742476
|
|
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile)
|
rs1060503098
|
|
NM_198586.3(NHLRC1):c.695C>A (p.Thr232Asn)
|
rs371640803
|
|
NM_198586.3(NHLRC1):c.695C>T (p.Thr232Ile)
|
|
|
NM_198586.3(NHLRC1):c.704A>G (p.Glu235Gly)
|
rs1173727000
|
|
NM_198586.3(NHLRC1):c.713C>A (p.Ser238Tyr)
|
rs747276703
|
|
NM_198586.3(NHLRC1):c.729C>G (p.Asp243Glu)
|
rs146420615
|
|
NM_198586.3(NHLRC1):c.733G>A (p.Asp245Asn)
|
rs2150702925
|
|
NM_198586.3(NHLRC1):c.746G>C (p.Gly249Ala)
|
|
|
NM_198586.3(NHLRC1):c.754C>T (p.Arg252Trp)
|
rs1244886517
|
|
NM_198586.3(NHLRC1):c.755G>C (p.Arg252Pro)
|
|
|
NM_198586.3(NHLRC1):c.759A>G (p.Arg253=)
|
|
|
NM_198586.3(NHLRC1):c.775G>T (p.Ala259Ser)
|
rs1783740022
|
|
NM_198586.3(NHLRC1):c.797G>A (p.Gly266Glu)
|
|
|
NM_198586.3(NHLRC1):c.809C>A (p.Ser270Tyr)
|
rs2150702863
|
|
NM_198586.3(NHLRC1):c.820G>A (p.Gly274Arg)
|
rs568213488
|
|
NM_198586.3(NHLRC1):c.820G>C (p.Gly274Arg)
|
rs568213488
|
|
NM_198586.3(NHLRC1):c.827T>C (p.Ile276Thr)
|
|
|
NM_198586.3(NHLRC1):c.845C>G (p.Pro282Arg)
|
rs2150702844
|
|
NM_198586.3(NHLRC1):c.845C>T (p.Pro282Leu)
|
rs2150702844
|
|
NM_198586.3(NHLRC1):c.880G>A (p.Val294Met)
|
|
|
NM_198586.3(NHLRC1):c.893G>T (p.Ser298Ile)
|
rs1783736655
|
|
NM_198586.3(NHLRC1):c.896C>T (p.Ser299Leu)
|
|
|
NM_198586.3(NHLRC1):c.930T>C (p.Phe310=)
|
|
|
NM_198586.3(NHLRC1):c.935T>C (p.Leu312Pro)
|
rs2150702790
|
|
NM_198586.3(NHLRC1):c.943T>A (p.Tyr315Asn)
|
|
|
NM_198586.3(NHLRC1):c.970G>T (p.Ala324Ser)
|
|
|
NM_198586.3(NHLRC1):c.98T>G (p.Phe33Cys)
|
rs757759398
|
|
NM_198904.4(GABRG2):c.1001C>T (p.Ala334Val)
|
rs1415043929
|
|
NM_198904.4(GABRG2):c.1007A>G (p.Asp336Gly)
|
rs1060501890
|
|
NM_198904.4(GABRG2):c.1008T>A (p.Asp336Glu)
|
|
|
NM_198904.4(GABRG2):c.1010T>G (p.Leu337Arg)
|
rs1765180862
|
|
NM_198904.4(GABRG2):c.1012T>C (p.Phe338Leu)
|
rs1765181104
|
|
NM_198904.4(GABRG2):c.1025G>A (p.Cys342Tyr)
|
rs2113633149
|
|
NM_198904.4(GABRG2):c.1036G>T (p.Val346Phe)
|
|
|
NM_198904.4(GABRG2):c.1037T>G (p.Val346Gly)
|
|
|
NM_198904.4(GABRG2):c.1045G>A (p.Ala349Thr)
|
rs756959300
|
|
NM_198904.4(GABRG2):c.1046C>A (p.Ala349Asp)
|
|
|
NM_198904.4(GABRG2):c.104C>T (p.Pro35Leu)
|
|
|
NM_198904.4(GABRG2):c.1057T>C (p.Tyr353His)
|
|
|
NM_198904.4(GABRG2):c.106G>A (p.Gly36Ser)
|
rs866056788
|
|
NM_198904.4(GABRG2):c.107+6A>G
|
rs868452487
|
|
NM_198904.4(GABRG2):c.107+6A>T
|
|
|
NM_198904.4(GABRG2):c.107G>A (p.Gly36Asp)
|
rs1266267390
|
|
NM_198904.4(GABRG2):c.1087C>G (p.Arg363Gly)
|
rs374512652
|
|
NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del)
|
rs727503941
|
|
NM_198904.4(GABRG2):c.1115A>G (p.Lys372Arg)
|
rs1765190002
|
|
NM_198904.4(GABRG2):c.1127C>T (p.Pro376Leu)
|
|
|
NM_198904.4(GABRG2):c.1128+6T>C
|
|
|
NM_198904.4(GABRG2):c.1153-11C>A
|
|
|
NM_198904.4(GABRG2):c.1153-15C>G
|
|
|
NM_198904.4(GABRG2):c.1153-2A>G
|
rs1554101185
|
|
NM_198904.4(GABRG2):c.1156C>G (p.Pro386Ala)
|
|
|
NM_198904.4(GABRG2):c.1186A>G (p.Thr396Ala)
|
|
|
NM_198904.4(GABRG2):c.1197G>T (p.Met399Ile)
|
rs1581462722
|
|
NM_198904.4(GABRG2):c.1204G>A (p.Ala402Thr)
|
|
|
NM_198904.4(GABRG2):c.1237G>A (p.Gly413Ser)
|
|
|
NM_198904.4(GABRG2):c.1268C>T (p.Ala423Val)
|
|
|
NM_198904.4(GABRG2):c.126TGA[2] (p.Asp45del)
|
rs769160013
|
|
NM_198904.4(GABRG2):c.1271G>T (p.Ser424Ile)
|
|
|
NM_198904.4(GABRG2):c.1277T>C (p.Phe426Ser)
|
rs2113650980
|
|
NM_198904.4(GABRG2):c.1279T>C (p.Cys427Arg)
|
rs1200142311
|
|
NM_198904.4(GABRG2):c.1282T>C (p.Cys428Arg)
|
|
|
NM_198904.4(GABRG2):c.128A>T (p.Asp43Val)
|
|
|
NM_198904.4(GABRG2):c.1295G>T (p.Cys432Phe)
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|
|
NM_198904.4(GABRG2):c.1313G>A (p.Arg438Lys)
|
rs796052514
|
|
NM_198904.4(GABRG2):c.1318G>A (p.Gly440Arg)
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|
|
NM_198904.4(GABRG2):c.1324A>G (p.Ile442Val)
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|
|
NM_198904.4(GABRG2):c.1331T>C (p.Ile444Thr)
|
rs1765504023
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|
NM_198904.4(GABRG2):c.1333C>T (p.Arg445Cys)
|
rs1561662358
|
|
NM_198904.4(GABRG2):c.1337T>A (p.Ile446Asn)
|
rs2113651245
|
|
NM_198904.4(GABRG2):c.1348G>A (p.Asp450Asn)
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|
|
NM_198904.4(GABRG2):c.1348G>C (p.Asp450His)
|
|
|
NM_198904.4(GABRG2):c.134A>G (p.Asp45Gly)
|
|
|
NM_198904.4(GABRG2):c.1357del (p.Ala453fs)
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|
|
NM_198904.4(GABRG2):c.1358C>A (p.Ala453Asp)
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|
|
NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val)
|
rs2113651364
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|
NM_198904.4(GABRG2):c.1360C>T (p.Arg454Trp)
|
rs796052515
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|
NM_198904.4(GABRG2):c.1361G>A (p.Arg454Gln)
|
rs904388241
|
|
NM_198904.4(GABRG2):c.1367_1370del (p.Phe456fs)
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|
|
NM_198904.4(GABRG2):c.1383C>G (p.Phe461Leu)
|
rs1765508103
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|
NM_198904.4(GABRG2):c.1393A>T (p.Asn465Tyr)
|
rs1581463309
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|
NM_198904.4(GABRG2):c.1400T>G (p.Val467Gly)
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|
|
NM_198904.4(GABRG2):c.1405T>C (p.Trp469Arg)
|
rs2113651577
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NM_198904.4(GABRG2):c.1409T>C (p.Val470Ala)
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|
|
NM_198904.4(GABRG2):c.1415dup (p.Tyr472Ter)
|
rs1210628894
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|
NM_198904.4(GABRG2):c.144T>A (p.Asp48Glu)
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|
NM_198904.4(GABRG2):c.173C>T (p.Thr58Ile)
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NM_198904.4(GABRG2):c.179A>T (p.Lys60Ile)
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|
NM_198904.4(GABRG2):c.185C>T (p.Pro62Leu)
|
rs771317794
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|
NM_198904.4(GABRG2):c.189G>C (p.Glu63Asp)
|
rs774756037
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|
NM_198904.4(GABRG2):c.206T>C (p.Ile69Thr)
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|
NM_198904.4(GABRG2):c.216C>A (p.Asn72Lys)
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|
NM_198904.4(GABRG2):c.241C>T (p.Leu81Phe)
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NM_198904.4(GABRG2):c.251A>T (p.Asp84Val)
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|
NM_198904.4(GABRG2):c.259+5G>A
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NM_198904.4(GABRG2):c.25A>C (p.Thr9Pro)
|
rs2113080489
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NM_198904.4(GABRG2):c.260T>G (p.Val87Gly)
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|
|
NM_198904.4(GABRG2):c.276T>G (p.Ile92Met)
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|
|
NM_198904.4(GABRG2):c.287T>C (p.Met96Thr)
|
|
|
NM_198904.4(GABRG2):c.290A>T (p.Tyr97Phe)
|
rs2113309275
|
|
NM_198904.4(GABRG2):c.293T>A (p.Val98Glu)
|
|
|
NM_198904.4(GABRG2):c.299G>T (p.Ser100Ile)
|
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|
NM_198904.4(GABRG2):c.302T>C (p.Ile101Thr)
|
|
|
NM_198904.4(GABRG2):c.306_311del (p.Pro103_Val104del)
|
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|
NM_198904.4(GABRG2):c.308C>T (p.Pro103Leu)
|
|
|
NM_198904.4(GABRG2):c.327+6T>C
|
rs1760938978
|
|
NM_198904.4(GABRG2):c.328-3C>G
|
|
|
NM_198904.4(GABRG2):c.349T>G (p.Phe117Val)
|
|
|
NM_198904.4(GABRG2):c.365A>G (p.Tyr122Cys)
|
rs1554097875
|
|
NM_198904.4(GABRG2):c.374G>A (p.Arg125His)
|
|
|
NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn)
|
rs1194428749
|
|
NM_198904.4(GABRG2):c.394A>G (p.Ile132Val)
|
rs752621588
|
|
NM_198904.4(GABRG2):c.3G>T (p.Met1Ile)
|
rs1758351092
|
|
NM_198904.4(GABRG2):c.401T>C (p.Val134Ala)
|
rs2113325670
|
|
NM_198904.4(GABRG2):c.403C>T (p.Leu135Phe)
|
rs74930063
|
|
NM_198904.4(GABRG2):c.419A>G (p.Asn140Ser)
|
rs1554097879
|
|
NM_198904.4(GABRG2):c.421A>G (p.Met141Val)
|
|
|
NM_198904.4(GABRG2):c.432A>C (p.Lys144Asn)
|
rs1761105874
|
|
NM_198904.4(GABRG2):c.445G>C (p.Asp149His)
|
rs2113326238
|
|
NM_198904.4(GABRG2):c.447C>A (p.Asp149Glu)
|
rs1761106635
|
|
NM_198904.4(GABRG2):c.451T>G (p.Phe151Val)
|
rs2113326347
|
|
NM_198904.4(GABRG2):c.455T>C (p.Phe152Ser)
|
rs1581350948
|
|
NM_198904.4(GABRG2):c.464C>T (p.Ser155Phe)
|
rs267600531
|
|
NM_198904.4(GABRG2):c.476A>C (p.Asp159Ala)
|
|
|
NM_198904.4(GABRG2):c.48_49inv (p.Pro17Thr)
|
|
|
NM_198904.4(GABRG2):c.49C>G (p.Pro17Ala)
|
rs1429217294
|
|
NM_198904.4(GABRG2):c.504G>C (p.Arg168Ser)
|
|
|
NM_198904.4(GABRG2):c.506T>C (p.Met169Thr)
|
rs2113327195
|
|
NM_198904.4(GABRG2):c.548+4T>C
|
|
|
NM_198904.4(GABRG2):c.548+6C>A
|
rs956763211
|
|
NM_198904.4(GABRG2):c.548G>T (p.Arg183Met)
|
|
|
NM_198904.4(GABRG2):c.549G>A (p.Arg183=)
|
rs1761390378
|
|
NM_198904.4(GABRG2):c.550T>A (p.Leu184Met)
|
|
|
NM_198904.4(GABRG2):c.569G>T (p.Cys190Phe)
|
rs2113352368
|
|
NM_198904.4(GABRG2):c.583C>A (p.His195Asn)
|
rs981863613
|
|
NM_198904.4(GABRG2):c.596T>C (p.Met199Thr)
|
rs770506471
|
|
NM_198904.4(GABRG2):c.608C>G (p.Ser203Cys)
|
rs1334273668
|
|
NM_198904.4(GABRG2):c.631+4A>C
|
rs1761398393
|
|
NM_198904.4(GABRG2):c.631+5G>C
|
|
|
NM_198904.4(GABRG2):c.631+5_631+8del
|
|
|
NM_198904.4(GABRG2):c.631+6T>C
|
rs1761398589
|
|
NM_198904.4(GABRG2):c.643C>A (p.Arg215Ser)
|
|
|
NM_198904.4(GABRG2):c.644G>C (p.Arg215Pro)
|
rs1561645172
|
|
NM_198904.4(GABRG2):c.644G>T (p.Arg215Leu)
|
rs1561645172
|
|
NM_198904.4(GABRG2):c.650A>G (p.Glu217Gly)
|
rs1761616421
|
|
NM_198904.4(GABRG2):c.659A>G (p.Tyr220Cys)
|
rs2113370519
|
|
NM_198904.4(GABRG2):c.671G>A (p.Arg224Gln)
|
|
|
NM_198904.4(GABRG2):c.679G>A (p.Val227Ile)
|
|
|
NM_198904.4(GABRG2):c.691G>T (p.Asp231Tyr)
|
|
|
NM_198904.4(GABRG2):c.6T>G (p.Ser2Arg)
|
|
|
NM_198904.4(GABRG2):c.71C>A (p.Thr24Lys)
|
rs1060501891
|
|
NM_198904.4(GABRG2):c.71C>G (p.Thr24Arg)
|
rs1060501891
|
|
NM_198904.4(GABRG2):c.721T>G (p.Ser241Ala)
|
|
|
NM_198904.4(GABRG2):c.727G>A (p.Val243Ile)
|
|
|
NM_198904.4(GABRG2):c.727G>T (p.Val243Phe)
|
rs1287665753
|
|
NM_198904.4(GABRG2):c.748G>A (p.Glu250Lys)
|
rs549251133
|
|
NM_198904.4(GABRG2):c.761C>T (p.Thr254Ile)
|
rs1761625389
|
|
NM_198904.4(GABRG2):c.769+5G>C
|
rs1761626533
|
|
NM_198904.4(GABRG2):c.769+8_769+9delinsAA
|
|
|
NM_198904.4(GABRG2):c.76T>G (p.Trp26Gly)
|
|
|
NM_198904.4(GABRG2):c.770-17T>G
|
|
|
NM_198904.4(GABRG2):c.776A>G (p.Tyr259Cys)
|
|
|
NM_198904.4(GABRG2):c.835A>G (p.Thr279Ala)
|
|
|
NM_198904.4(GABRG2):c.836C>T (p.Thr279Ile)
|
rs1254425203
|
|
NM_198904.4(GABRG2):c.838T>G (p.Tyr280Asp)
|
rs1581439671
|
|
NM_198904.4(GABRG2):c.841A>T (p.Ile281Phe)
|
|
|
NM_198904.4(GABRG2):c.85C>T (p.Leu29Phe)
|
rs2113081191
|
|
NM_198904.4(GABRG2):c.862G>A (p.Val288Ile)
|
|
|
NM_198904.4(GABRG2):c.872G>C (p.Trp291Ser)
|
rs1764625911
|
|
NM_198904.4(GABRG2):c.874G>T (p.Val292Leu)
|
|
|
NM_198904.4(GABRG2):c.888C>G (p.Ile296Met)
|
rs1382620492
|
|
NM_198904.4(GABRG2):c.890A>G (p.Asn297Ser)
|
rs1764626977
|
|
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr)
|
rs1764627724
|
|
NM_198904.4(GABRG2):c.898G>A (p.Ala300Thr)
|
rs2113599106
|
|
NM_198904.4(GABRG2):c.89T>C (p.Leu30Pro)
|
|
|
NM_198904.4(GABRG2):c.907G>A (p.Ala303Thr)
|
rs1581439874
|
|
NM_198904.4(GABRG2):c.919T>G (p.Leu307Val)
|
rs796052509
|
|
NM_198904.4(GABRG2):c.923-11C>G
|
|
|
NM_198904.4(GABRG2):c.923G>A (p.Gly308Asp)
|
rs1765171348
|
|
NM_198904.4(GABRG2):c.927C>G (p.Ile309Met)
|
rs1554100910
|
|
NM_198904.4(GABRG2):c.929C>T (p.Thr310Ile)
|
rs2113632484
|
|
NM_198904.4(GABRG2):c.931A>G (p.Thr311Ala)
|
rs2113632510
|
|
NM_198904.4(GABRG2):c.935T>A (p.Val312Asp)
|
|
|
NM_198904.4(GABRG2):c.937C>A (p.Leu313Met)
|
rs2113632536
|
|
NM_198904.4(GABRG2):c.950C>G (p.Thr317Ser)
|
rs1765173859
|
|
NM_198904.4(GABRG2):c.952C>G (p.Leu318Val)
|
rs1561660795
|
|
NM_198904.4(GABRG2):c.965C>A (p.Ala322Asp)
|
rs1765176231
|
|
NM_198904.4(GABRG2):c.988T>A (p.Ser330Thr)
|
|
|
NM_198904.4(GABRG2):c.991T>A (p.Tyr331Asn)
|
|
|