NM_020738.4(KIDINS220):c.2849-25T>A
|
rs12476359
|
0.97631
|
NM_002860.4(ALDH18A1):c.88+126A>C
|
rs9787589
|
0.76474
|
NM_001122955.4(BSCL2):c.766-49T>C
|
rs2850597
|
0.75076
|
NM_001122955.4(BSCL2):c.765+69A>G
|
rs2850596
|
0.74808
|
NM_002860.4(ALDH18A1):c.304-34A>G
|
rs2275273
|
0.66239
|
NM_002860.4(ALDH18A1):c.1606-48T>G
|
rs2296692
|
0.42481
|
NM_002860.4(ALDH18A1):c.2207-46G>A
|
rs7099284
|
0.42467
|
NM_002860.4(ALDH18A1):c.2206+15G>A
|
rs10882640
|
0.39029
|
NM_002860.4(ALDH18A1):c.2110+24A>T
|
rs2296691
|
0.27977
|
NM_020738.4(KIDINS220):c.4824G>T (p.Gln1608His)
|
rs1044280
|
0.26219
|
NM_001122955.4(BSCL2):c.486+11G>T
|
rs72929434
|
0.16805
|
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)
|
rs6856
|
0.16571
|
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile)
|
rs2275272
|
0.10214
|
NM_020738.4(KIDINS220):c.3673C>T (p.Leu1225=)
|
rs61742863
|
0.06114
|
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)
|
rs3765571
|
0.01418
|
NM_001122955.4(BSCL2):c.1234+20G>A
|
rs113229350
|
0.00638
|
NM_020738.4(KIDINS220):c.2568C>T (p.Leu856=)
|
rs61742927
|
0.00627
|
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro)
|
rs145649423
|
0.00301
|
NM_020738.4(KIDINS220):c.3586-7T>C
|
rs139887022
|
0.00180
|
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=)
|
rs117709404
|
0.00134
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_020738.4(KIDINS220):c.4947C>G (p.Asp1649Glu)
|
rs202094672
|
0.00127
|
NM_020738.4(KIDINS220):c.2569G>A (p.Val857Ile)
|
rs200104720
|
0.00093
|
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=)
|
rs138532996
|
0.00024
|
NM_020738.4(KIDINS220):c.974A>G (p.Asn325Ser)
|
rs77973158
|
0.00024
|
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)
|
rs147314661
|
0.00023
|
NM_020738.4(KIDINS220):c.2556A>G (p.Ala852=)
|
rs150868908
|
0.00021
|
NM_020738.4(KIDINS220):c.3318C>T (p.Ser1106=)
|
rs369693571
|
0.00018
|
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)
|
rs3763853
|
0.00014
|
NM_002860.4(ALDH18A1):c.1152+8_1152+9del
|
rs373488364
|
0.00011
|
NM_020738.4(KIDINS220):c.207+3A>G
|
rs374940372
|
0.00010
|
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val)
|
rs142712849
|
0.00009
|
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu)
|
rs767463971
|
0.00008
|
NM_001122955.4(BSCL2):c.88-19C>T
|
rs760935362
|
0.00008
|
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg)
|
rs772516974
|
0.00006
|
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn)
|
rs770815414
|
0.00006
|
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly)
|
rs143874727
|
0.00006
|
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu)
|
rs149907021
|
0.00004
|
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser)
|
rs369732238
|
0.00004
|
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)
|
rs370905417
|
0.00004
|
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile)
|
rs754683462
|
0.00004
|
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys)
|
rs757876226
|
0.00004
|
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)
|
rs200858692
|
0.00004
|
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys)
|
rs141518903
|
0.00003
|
NM_001122955.4(BSCL2):c.1235-6G>A
|
rs762484263
|
0.00003
|
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser)
|
rs751277966
|
0.00003
|
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu)
|
rs769219167
|
0.00003
|
NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp)
|
rs747918055
|
0.00003
|
NM_020738.4(KIDINS220):c.299G>A (p.Arg100His)
|
rs368435770
|
0.00003
|
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln)
|
rs202072835
|
0.00002
|
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His)
|
rs1057524897
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu)
|
rs1006065298
|
0.00002
|
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln)
|
rs771322168
|
0.00002
|
NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=)
|
rs1002367939
|
0.00002
|
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys)
|
rs144725547
|
0.00001
|
NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln)
|
rs749917957
|
0.00001
|
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser)
|
rs781022347
|
0.00001
|
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=)
|
rs113336810
|
0.00001
|
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg)
|
rs779682500
|
0.00001
|
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val)
|
rs772442281
|
0.00001
|
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=)
|
rs748736063
|
0.00001
|
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val)
|
rs141657385
|
0.00001
|
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp)
|
rs772832629
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)
|
rs786205071
|
0.00001
|
NM_001122955.4(BSCL2):c.629C>T (p.Ser210Leu)
|
rs778486956
|
0.00001
|
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=)
|
rs748195771
|
0.00001
|
NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn)
|
rs1242600175
|
0.00001
|
NM_002860.4(ALDH18A1):c.1493G>T (p.Gly498Val)
|
rs569086681
|
0.00001
|
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)
|
rs768964431
|
0.00001
|
NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile)
|
rs756291410
|
0.00001
|
NM_002860.4(ALDH18A1):c.306A>G (p.Val102=)
|
rs773545430
|
0.00001
|
NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=)
|
rs751578810
|
0.00001
|
NM_020738.4(KIDINS220):c.2702G>A (p.Arg901Gln)
|
rs755319483
|
0.00001
|
NM_020738.4(KIDINS220):c.4889A>G (p.His1630Arg)
|
rs569904858
|
0.00001
|
NM_020738.4(KIDINS220):c.746C>T (p.Thr249Met)
|
rs771589853
|
0.00001
|
NC_000010.10:g.(?_97376214)_(97376391_?)del
|
|
|
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser)
|
rs1424325463
|
|
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe)
|
rs1590868109
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3])
|
rs747175358
|
|
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala)
|
rs199584887
|
|
NM_001122955.4(BSCL2):c.1310C>T (p.Ala437Val)
|
rs751558047
|
|
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr)
|
rs1945271930
|
|
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser)
|
rs1349958377
|
|
NM_001122955.4(BSCL2):c.405-21TCC[2]
|
rs768556778
|
|
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)
|
rs137852973
|
|
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
|
|
|
NM_001122955.4(BSCL2):c.487-20A>T
|
rs115756273
|
|
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=)
|
rs150158560
|
|
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg)
|
rs781217574
|
|
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu)
|
rs367783346
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|
NM_002860.4(ALDH18A1):c.1237G>C (p.Glu413Gln)
|
rs147348068
|
|
NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His)
|
rs570730665
|
|
NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=)
|
rs1374293487
|
|
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg)
|
rs139035272
|
|
NM_002860.4(ALDH18A1):c.1994G>T (p.Arg665Leu)
|
rs766264810
|
|
NM_002860.4(ALDH18A1):c.303+4_303+7dup
|
rs772902503
|
|
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)
|
rs863224945
|
|
NM_002860.4(ALDH18A1):c.412C>T (p.Arg138Trp)
|
rs863225044
|
|
NM_002860.4(ALDH18A1):c.41A>G (p.Asn14Ser)
|
|
|
NM_002860.4(ALDH18A1):c.478G>T (p.Ala160Ser)
|
rs2139621272
|
|
NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu)
|
rs864321669
|
|
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)
|
rs864321670
|
|
NM_002860.4(ALDH18A1):c.809-1G>C
|
rs1202802893
|
|
NM_002860.4(ALDH18A1):c.89-1G>C
|
rs2139642879
|
|
NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe)
|
rs192770256
|
|
NM_020738.4(KIDINS220):c.1022A>G (p.Lys341Arg)
|
|
|
NM_020738.4(KIDINS220):c.1462G>A (p.Gly488Arg)
|
|
|
NM_020738.4(KIDINS220):c.2164C>T (p.Gln722Ter)
|
|
|
NM_020738.4(KIDINS220):c.2294A>G (p.Asn765Ser)
|
|
|
NM_020738.4(KIDINS220):c.2428A>G (p.Ile810Val)
|
rs1671352434
|
|
NM_020738.4(KIDINS220):c.2593G>A (p.Val865Ile)
|
|
|
NM_020738.4(KIDINS220):c.2987T>G (p.Met996Arg)
|
rs1376895839
|
|
NM_020738.4(KIDINS220):c.3395dup (p.His1133fs)
|
|
|
NM_020738.4(KIDINS220):c.3415-4A>G
|
rs1666821581
|
|
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)
|
|
|
NM_020738.4(KIDINS220):c.3529-5G>T
|
|
|
NM_020738.4(KIDINS220):c.3991G>T (p.Glu1331Ter)
|
rs1664428695
|
|
NM_020738.4(KIDINS220):c.4050G>A (p.Trp1350Ter)
|
rs1057519300
|
|
NM_020738.4(KIDINS220):c.4053+1G>T
|
rs1664419023
|
|
NM_020738.4(KIDINS220):c.4096C>T (p.Gln1366Ter)
|
rs1057519301
|
|
NM_020738.4(KIDINS220):c.4138C>T (p.Gln1380Ter)
|
rs1553305080
|
|
NM_020738.4(KIDINS220):c.4169A>G (p.Tyr1390Cys)
|
|
|
NM_020738.4(KIDINS220):c.4213_4216dup (p.Ile1406fs)
|
|
|
NM_020738.4(KIDINS220):c.4388C>A (p.Ser1463Ter)
|
rs2147945457
|
|
NM_020738.4(KIDINS220):c.4389_4390del (p.Val1465fs)
|
rs2147945425
|
|
NM_020738.4(KIDINS220):c.4412delinsAAG (p.Ser1471Ter)
|
|
|
NM_020738.4(KIDINS220):c.4417dup (p.Leu1473fs)
|
rs34141362
|
|
NM_020738.4(KIDINS220):c.4520dup (p.Leu1507fs)
|
rs1057519302
|
|
NM_020738.4(KIDINS220):c.4549C>T (p.Gln1517Ter)
|
rs1664085645
|
|
NM_020738.4(KIDINS220):c.4550A>G (p.Gln1517Arg)
|
|
|
NM_020738.4(KIDINS220):c.4631A>G (p.Lys1544Arg)
|
|
|
NM_020738.4(KIDINS220):c.4787A>G (p.Asn1596Ser)
|
rs2147943225
|
|
NM_020738.4(KIDINS220):c.4822C>T (p.Gln1608Ter)
|
|
|
NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)
|
|
|
NM_020738.4(KIDINS220):c.4850T>C (p.Leu1617Pro)
|
rs1664034594
|
|
NM_020738.4(KIDINS220):c.5079_5080del (p.Asn1693fs)
|
rs1131692229
|
|
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
|
|
|
NM_020738.4(KIDINS220):c.560A>G (p.Lys187Arg)
|
|
|
NM_020738.4(KIDINS220):c.578_579delinsTT (p.Gly193Val)
|
rs1675445207
|
|
NM_020738.4(KIDINS220):c.876T>G (p.Tyr292Ter)
|
|
|
NM_020738.4(KIDINS220):c.89A>T (p.Asp30Val)
|
|
|
NM_020738.4(KIDINS220):c.900+5G>A
|
rs772773265
|
|
NM_020738.4(KIDINS220):c.959A>G (p.Asp320Gly)
|
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|