NM_004183.4(BEST1):c.422G>A (p.Arg141His)
|
rs121918284
|
0.00033
|
NM_004183.4(BEST1):c.1415del (p.Leu472fs)
|
rs752125512
|
0.00006
|
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)
|
rs199529046
|
0.00006
|
NM_004183.4(BEST1):c.821C>G (p.Pro274Arg)
|
rs62639270
|
0.00006
|
NM_004183.4(BEST1):c.974T>C (p.Met325Thr)
|
rs368387447
|
0.00006
|
NM_004183.4(BEST1):c.1552G>T (p.Glu518Ter)
|
rs370835731
|
0.00005
|
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)
|
rs121918286
|
0.00004
|
NM_004183.4(BEST1):c.830C>T (p.Thr277Met)
|
rs775791299
|
0.00004
|
NM_004183.4(BEST1):c.936C>A (p.Asp312Glu)
|
rs748351421
|
0.00004
|
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys)
|
rs886041141
|
0.00003
|
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser)
|
rs750102662
|
0.00003
|
NM_004183.4(BEST1):c.418C>G (p.Leu140Val)
|
rs267606678
|
0.00003
|
NM_004183.4(BEST1):c.102C>T (p.Gly34=)
|
rs771898125
|
0.00002
|
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys)
|
rs765333778
|
0.00002
|
NM_004183.4(BEST1):c.140G>A (p.Arg47His)
|
rs28940278
|
0.00002
|
NM_004183.4(BEST1):c.1550C>G (p.Ser517Ter)
|
rs762398929
|
0.00002
|
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)
|
rs374517178
|
0.00002
|
NM_004183.4(BEST1):c.604C>T (p.Arg202Trp)
|
rs765998048
|
0.00002
|
NM_004183.4(BEST1):c.636+1G>A
|
rs62637337
|
0.00002
|
NM_004183.4(BEST1):c.1066C>T (p.Arg356Ter)
|
rs1295669283
|
0.00001
|
NM_004183.4(BEST1):c.1175del (p.Arg392fs)
|
rs1490119932
|
0.00001
|
NM_004183.4(BEST1):c.122T>C (p.Leu41Pro)
|
rs121918288
|
0.00001
|
NM_004183.4(BEST1):c.1444del (p.Glu482fs)
|
rs759410076
|
0.00001
|
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu)
|
rs980876322
|
0.00001
|
NM_004183.4(BEST1):c.38G>A (p.Arg13His)
|
rs281865209
|
0.00001
|
NM_004183.4(BEST1):c.399C>G (p.Asn133Lys)
|
rs281865233
|
0.00001
|
NM_004183.4(BEST1):c.400C>G (p.Leu134Val)
|
rs753614067
|
0.00001
|
NM_004183.4(BEST1):c.404G>A (p.Gly135Asp)
|
rs1159966472
|
0.00001
|
NM_004183.4(BEST1):c.421C>A (p.Arg141Ser)
|
rs281865236
|
0.00001
|
NM_004183.4(BEST1):c.454C>G (p.Pro152Ala)
|
rs1417478879
|
0.00001
|
NM_004183.4(BEST1):c.475C>T (p.Gln159Ter)
|
rs1174029281
|
0.00001
|
NM_004183.4(BEST1):c.5C>G (p.Thr2Ser)
|
rs1209208472
|
0.00001
|
NM_004183.4(BEST1):c.653G>A (p.Arg218His)
|
rs281865239
|
0.00001
|
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)
|
rs267606676
|
0.00001
|
NM_004183.4(BEST1):c.72G>A (p.Trp24Ter)
|
rs281865213
|
0.00001
|
NM_004183.4(BEST1):c.74G>A (p.Arg25Gln)
|
rs281865215
|
0.00001
|
NM_004183.4(BEST1):c.860G>A (p.Trp287Ter)
|
rs753334817
|
0.00001
|
NM_004183.4(BEST1):c.87C>G (p.Tyr29Ter)
|
rs121918285
|
0.00001
|
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg)
|
rs281865218
|
0.00001
|
NM_004183.4(BEST1):c.934G>A (p.Asp312Asn)
|
rs281865277
|
0.00001
|
NC_000011.9:g.(?_61717900)_(61719450_?)del
|
|
|
NC_000011.9:g.(?_61722559)_(61723443_?)del
|
|
|
NC_000011.9:g.(?_61722559)_(61727535_?)del
|
|
|
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys)
|
rs886041142
|
|
NM_004183.4(BEST1):c.1100+1G>C
|
rs1434513582
|
|
NM_004183.4(BEST1):c.1120dup (p.Glu374fs)
|
rs766357080
|
|
NM_004183.4(BEST1):c.119dup (p.Leu41fs)
|
rs2134410058
|
|
NM_004183.4(BEST1):c.11C>T (p.Thr4Ile)
|
rs368383940
|
|
NM_004183.4(BEST1):c.1315C>T (p.Gln439Ter)
|
rs1942169028
|
|
NM_004183.4(BEST1):c.1319_1388del (p.Glu440fs)
|
rs2134469325
|
|
NM_004183.4(BEST1):c.1403C>T (p.Pro468Leu)
|
rs747043918
|
|
NM_004183.4(BEST1):c.1470_1471del (p.His490fs)
|
rs281865528
|
|
NM_004183.4(BEST1):c.1501_1508del (p.Ser501fs)
|
|
|
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs)
|
rs752521456
|
|
NM_004183.4(BEST1):c.1533_1534del (p.Ser512fs)
|
rs1244671706
|
|
NM_004183.4(BEST1):c.16A>C (p.Thr6Pro)
|
rs28940275
|
|
NM_004183.4(BEST1):c.16A>G (p.Thr6Ala)
|
rs28940275
|
|
NM_004183.4(BEST1):c.172_173dup (p.Gln58fs)
|
rs672601356
|
|
NM_004183.4(BEST1):c.17C>G (p.Thr6Arg)
|
rs281865204
|
|
NM_004183.4(BEST1):c.182del (p.Met61fs)
|
rs1941145120
|
|
NM_004183.4(BEST1):c.190A>T (p.Lys64Ter)
|
rs2134425489
|
|
NM_004183.4(BEST1):c.1A>G (p.Met1Val)
|
|
|
NM_004183.4(BEST1):c.218T>A (p.Ile73Asn)
|
rs1591280714
|
|
NM_004183.4(BEST1):c.224T>C (p.Leu75Pro)
|
rs2134425822
|
|
NM_004183.4(BEST1):c.227T>A (p.Ile76Asn)
|
|
|
NM_004183.4(BEST1):c.227T>C (p.Ile76Thr)
|
|
|
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu)
|
rs281865221
|
|
NM_004183.4(BEST1):c.240C>G (p.Phe80Leu)
|
rs281865221
|
|
NM_004183.4(BEST1):c.241G>A (p.Val81Met)
|
rs1555098634
|
|
NM_004183.4(BEST1):c.241G>C (p.Val81Leu)
|
rs1555098634
|
|
NM_004183.4(BEST1):c.244C>G (p.Leu82Val)
|
rs281865530
|
|
NM_004183.4(BEST1):c.253T>C (p.Tyr85His)
|
rs28940274
|
|
NM_004183.4(BEST1):c.256G>A (p.Val86Met)
|
rs121918289
|
|
NM_004183.4(BEST1):c.25G>C (p.Val9Leu)
|
rs28940276
|
|
NM_004183.4(BEST1):c.272C>T (p.Thr91Ile)
|
rs281865223
|
|
NM_004183.4(BEST1):c.274C>T (p.Arg92Cys)
|
rs281865224
|
|
NM_004183.4(BEST1):c.275G>A (p.Arg92His)
|
rs281865225
|
|
NM_004183.4(BEST1):c.279G>C (p.Trp93Cys)
|
rs28940273
|
|
NM_004183.4(BEST1):c.279G>T (p.Trp93Cys)
|
|
|
NM_004183.4(BEST1):c.287A>G (p.Gln96Arg)
|
rs1225032182
|
|
NM_004183.4(BEST1):c.287A>T (p.Gln96Leu)
|
|
|
NM_004183.4(BEST1):c.288G>C (p.Gln96His)
|
rs281865226
|
|
NM_004183.4(BEST1):c.28G>A (p.Ala10Thr)
|
rs281865206
|
|
NM_004183.4(BEST1):c.292G>A (p.Glu98Lys)
|
rs2134430191
|
|
NM_004183.4(BEST1):c.294G>C (p.Glu98Asp)
|
rs1591283793
|
|
NM_004183.4(BEST1):c.295A>G (p.Asn99Asp)
|
|
|
NM_004183.4(BEST1):c.295A>T (p.Asn99Tyr)
|
|
|
NM_004183.4(BEST1):c.297C>A (p.Asn99Lys)
|
rs281865227
|
|
NM_004183.4(BEST1):c.29C>T (p.Ala10Val)
|
rs281865207
|
|
NM_004183.4(BEST1):c.301C>A (p.Pro101Thr)
|
rs281865229
|
|
NM_004183.4(BEST1):c.310G>C (p.Asp104His)
|
rs281865231
|
|
NM_004183.4(BEST1):c.334_340del (p.Gly112fs)
|
rs1591284015
|
|
NM_004183.4(BEST1):c.396del (p.Asn133fs)
|
|
|
NM_004183.4(BEST1):c.427G>T (p.Val143Phe)
|
rs1378679988
|
|
NM_004183.4(BEST1):c.431G>A (p.Ser144Asn)
|
|
|
NM_004183.4(BEST1):c.436_437delinsAA (p.Ala146Lys)
|
rs1800995
|
|
NM_004183.4(BEST1):c.44G>A (p.Gly15Asp)
|
rs766379510
|
|
NM_004183.4(BEST1):c.47C>A (p.Ser16Tyr)
|
rs281865210
|
|
NM_004183.4(BEST1):c.47C>T (p.Ser16Phe)
|
rs281865210
|
|
NM_004183.4(BEST1):c.508C>T (p.Gln170Ter)
|
|
|
NM_004183.4(BEST1):c.524del (p.Ser175fs)
|
|
|
NM_004183.4(BEST1):c.575C>A (p.Ser192Ter)
|
|
|
NM_004183.4(BEST1):c.579_580insCATT (p.Lys194delinsHisTer)
|
rs2134437355
|
|
NM_004183.4(BEST1):c.614T>C (p.Ile205Thr)
|
rs267606680
|
|
NM_004183.4(BEST1):c.62T>G (p.Leu21Arg)
|
|
|
NM_004183.4(BEST1):c.636+1G>T
|
|
|
NM_004183.4(BEST1):c.652C>G (p.Arg218Gly)
|
rs281865238
|
|
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)
|
rs281865238
|
|
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter)
|
rs775283269
|
|
NM_004183.4(BEST1):c.663T>G (p.Cys221Trp)
|
rs281865240
|
|
NM_004183.4(BEST1):c.665G>T (p.Gly222Val)
|
rs281865241
|
|
NM_004183.4(BEST1):c.671T>C (p.Leu224Pro)
|
rs281865243
|
|
NM_004183.4(BEST1):c.671T>G (p.Leu224Arg)
|
rs281865243
|
|
NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn)
|
rs28941469
|
|
NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys)
|
rs267606677
|
|
NM_004183.4(BEST1):c.689T>C (p.Ile230Thr)
|
|
|
NM_004183.4(BEST1):c.701T>G (p.Leu234Arg)
|
rs1941501578
|
|
NM_004183.4(BEST1):c.703G>T (p.Val235Leu)
|
rs281865245
|
|
NM_004183.4(BEST1):c.709A>T (p.Thr237Ser)
|
rs2134440586
|
|
NM_004183.4(BEST1):c.712del (p.Gln238fs)
|
rs1555100476
|
|
NM_004183.4(BEST1):c.713A>G (p.Gln238Arg)
|
rs1941503926
|
|
NM_004183.4(BEST1):c.722C>A (p.Thr241Asn)
|
rs281865247
|
|
NM_004183.4(BEST1):c.724G>A (p.Val242Met)
|
|
|
NM_004183.4(BEST1):c.725_726del (p.Val242fs)
|
rs1941602345
|
|
NM_004183.4(BEST1):c.727G>A (p.Ala243Thr)
|
rs137853905
|
|
NM_004183.4(BEST1):c.728C>T (p.Ala243Val)
|
rs28940570
|
|
NM_004183.4(BEST1):c.72G>T (p.Trp24Cys)
|
rs281865213
|
|
NM_004183.4(BEST1):c.73C>T (p.Arg25Trp)
|
rs281865214
|
|
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)
|
rs372989281
|
|
NM_004183.4(BEST1):c.777_778insAA (p.Pro260fs)
|
rs1591295182
|
|
NM_004183.4(BEST1):c.779del (p.Pro260fs)
|
rs778645644
|
|
NM_004183.4(BEST1):c.842_843delinsAG (p.Phe281Ter)
|
|
|
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)
|
rs727503824
|
|
NM_004183.4(BEST1):c.851_852del (p.Tyr284fs)
|
|
|
NM_004183.4(BEST1):c.85T>C (p.Tyr29His)
|
rs281865217
|
|
NM_004183.4(BEST1):c.868-1G>A
|
rs2134453079
|
|
NM_004183.4(BEST1):c.86_89dup (p.Leu31fs)
|
|
|
NM_004183.4(BEST1):c.874G>A (p.Glu292Lys)
|
rs886039311
|
|
NM_004183.4(BEST1):c.877C>A (p.Gln293Lys)
|
rs281865250
|
|
NM_004183.4(BEST1):c.879G>C (p.Gln293His)
|
rs2134453127
|
|
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del)
|
rs121918283
|
|
NM_004183.4(BEST1):c.883A>C (p.Ile295Leu)
|
rs777320382
|
|
NM_004183.4(BEST1):c.884T>C (p.Ile295Thr)
|
rs281865253
|
|
NM_004183.4(BEST1):c.886A>C (p.Asn296His)
|
rs281865254
|
|
NM_004183.4(BEST1):c.886A>G (p.Asn296Asp)
|
|
|
NM_004183.4(BEST1):c.887A>G (p.Asn296Ser)
|
rs281865255
|
|
NM_004183.4(BEST1):c.889C>G (p.Pro297Ala)
|
rs1805143
|
|
NM_004183.4(BEST1):c.890C>A (p.Pro297His)
|
rs2134453263
|
|
NM_004183.4(BEST1):c.893T>C (p.Phe298Ser)
|
rs281865257
|
|
NM_004183.4(BEST1):c.895G>A (p.Gly299Arg)
|
|
|
NM_004183.4(BEST1):c.896G>A (p.Gly299Glu)
|
rs28941468
|
|
NM_004183.4(BEST1):c.898G>A (p.Glu300Lys)
|
rs281865258
|
|
NM_004183.4(BEST1):c.900G>C (p.Glu300Asp)
|
rs1805144
|
|
NM_004183.4(BEST1):c.901G>A (p.Asp301Asn)
|
rs281865259
|
|
NM_004183.4(BEST1):c.902A>G (p.Asp301Gly)
|
rs2134453358
|
|
NM_004183.4(BEST1):c.903T>G (p.Asp301Glu)
|
rs281865261
|
|
NM_004183.4(BEST1):c.904G>C (p.Asp302His)
|
rs281865262
|
|
NM_004183.4(BEST1):c.905A>C (p.Asp302Ala)
|
rs281865263
|
|
NM_004183.4(BEST1):c.909T>A (p.Asp303Glu)
|
rs281865264
|
|
NM_004183.4(BEST1):c.914T>C (p.Phe305Ser)
|
rs281865265
|
|
NM_004183.4(BEST1):c.916G>C (p.Glu306Gln)
|
rs2134453498
|
|
NM_004183.4(BEST1):c.917A>G (p.Glu306Gly)
|
rs281865266
|
|
NM_004183.4(BEST1):c.918G>C (p.Glu306Asp)
|
rs281865267
|
|
NM_004183.4(BEST1):c.918G>T (p.Glu306Asp)
|
|
|
NM_004183.4(BEST1):c.920C>A (p.Thr307Asn)
|
|
|
NM_004183.4(BEST1):c.920C>T (p.Thr307Ile)
|
rs281865269
|
|
NM_004183.4(BEST1):c.925T>C (p.Trp309Arg)
|
|
|
NM_004183.4(BEST1):c.929T>C (p.Ile310Thr)
|
rs281865271
|
|
NM_004183.4(BEST1):c.970G>T (p.Glu324Ter)
|
|
|
NM_004183.4(BEST1):c.994del (p.Met332fs)
|
rs1941880096
|
|