NM_004183.4(BEST1):c.109T>C (p.Leu37=)
|
rs1800007
|
0.48331
|
NM_004183.4(BEST1):c.219C>A (p.Ile73=)
|
rs1109748
|
0.10271
|
NM_004183.4(BEST1):c.696C>A (p.Ile232=)
|
rs1805140
|
0.03928
|
NM_004183.4(BEST1):c.201G>C (p.Leu67=)
|
rs1801393
|
0.01850
|
NM_004183.4(BEST1):c.618G>A (p.Leu206=)
|
rs62641693
|
0.01704
|
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile)
|
rs74653691
|
0.01704
|
NM_004183.4(BEST1):c.868-17C>A
|
rs148662546
|
0.00324
|
NM_004183.4(BEST1):c.213C>T (p.Ser71=)
|
rs57132800
|
0.00289
|
NM_004183.4(BEST1):c.637-6C>T
|
rs62639356
|
0.00147
|
NM_004183.4(BEST1):c.624G>A (p.Gln208=)
|
rs150247275
|
0.00114
|
NM_004183.4(BEST1):c.482-15C>T
|
rs201010315
|
0.00088
|
NM_004183.4(BEST1):c.1571T>C (p.Met524Thr)
|
rs145209035
|
0.00086
|
NM_004183.4(BEST1):c.1087A>C (p.Thr363Pro)
|
rs147228028
|
0.00045
|
NM_004183.4(BEST1):c.422G>A (p.Arg141His)
|
rs121918284
|
0.00033
|
NM_004183.4(BEST1):c.495G>A (p.Pro165=)
|
rs182941675
|
0.00022
|
NM_004183.4(BEST1):c.231C>T (p.Pro77=)
|
rs142053865
|
0.00016
|
NM_004183.4(BEST1):c.1063C>T (p.Arg355Cys)
|
rs139637557
|
0.00013
|
NM_004183.4(BEST1):c.1193C>T (p.Ser398Phe)
|
rs199890510
|
0.00013
|
NM_004183.4(BEST1):c.1215G>A (p.Arg405=)
|
rs751740475
|
0.00012
|
NM_004183.4(BEST1):c.992G>A (p.Arg331Gln)
|
rs201386186
|
0.00012
|
NM_004183.4(BEST1):c.1080G>A (p.Met360Ile)
|
rs145212203
|
0.00011
|
NM_004183.4(BEST1):c.1306G>A (p.Val436Ile)
|
rs145439032
|
0.00010
|
NM_004183.4(BEST1):c.1305C>T (p.Asn435=)
|
rs532728444
|
0.00009
|
NM_004183.4(BEST1):c.1752T>A (p.His584Gln)
|
rs534854547
|
0.00009
|
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)
|
rs147409760
|
0.00008
|
NM_004183.4(BEST1):c.1271G>C (p.Gly424Ala)
|
rs201210799
|
0.00007
|
NM_004183.4(BEST1):c.1101-20C>A
|
rs527614503
|
0.00006
|
NM_004183.4(BEST1):c.1118T>C (p.Met373Thr)
|
rs1000828274
|
0.00006
|
NM_004183.4(BEST1):c.1415del (p.Leu472fs)
|
rs752125512
|
0.00006
|
NM_004183.4(BEST1):c.443A>T (p.Tyr148Phe)
|
rs760471818
|
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.1204C>T (p.His402Tyr)
|
rs149678971
|
0.00005
|
NM_004183.4(BEST1):c.1552G>T (p.Glu518Ter)
|
rs370835731
|
0.00005
|
NM_004183.4(BEST1):c.248-18C>G
|
rs1269073504
|
0.00005
|
NM_004183.4(BEST1):c.749C>G (p.Thr250Ser)
|
rs369870892
|
0.00005
|
NM_004183.4(BEST1):c.1158C>T (p.His386=)
|
rs780666113
|
0.00004
|
NM_004183.4(BEST1):c.1169T>C (p.Ile390Thr)
|
rs375618932
|
0.00004
|
NM_004183.4(BEST1):c.1712T>C (p.Met571Thr)
|
rs749448206
|
0.00004
|
NM_004183.4(BEST1):c.247+18G>C
|
rs369486390
|
0.00004
|
NM_004183.4(BEST1):c.248-6G>A
|
rs917945147
|
0.00004
|
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)
|
rs121918286
|
0.00004
|
NM_004183.4(BEST1):c.714+11G>C
|
rs376817800
|
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.1133A>G (p.Asn378Ser)
|
rs199998058
|
0.00003
|
NM_004183.4(BEST1):c.1159G>A (p.Ala387Thr)
|
rs374772670
|
0.00003
|
NM_004183.4(BEST1):c.171A>C (p.Glu57Asp)
|
rs200235532
|
0.00003
|
NM_004183.4(BEST1):c.334G>A (p.Gly112Ser)
|
rs370284244
|
0.00003
|
NM_004183.4(BEST1):c.33T>C (p.Asn11=)
|
rs281865531
|
0.00003
|
NM_004183.4(BEST1):c.355G>C (p.Glu119Gln)
|
rs1805142
|
0.00003
|
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.409G>A (p.Val137Met)
|
rs1363093613
|
0.00003
|
NM_004183.4(BEST1):c.418C>G (p.Leu140Val)
|
rs267606678
|
0.00003
|
NM_004183.4(BEST1):c.481+3G>A
|
rs745906498
|
0.00003
|
NM_004183.4(BEST1):c.537C>T (p.Asn179=)
|
rs758504759
|
0.00003
|
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys)
|
rs765385264
|
0.00003
|
NM_004183.4(BEST1):c.647C>T (p.Thr216Ile)
|
rs281865275
|
0.00003
|
NM_004183.4(BEST1):c.729G>A (p.Ala243=)
|
rs752998391
|
0.00003
|
NM_004183.4(BEST1):c.809A>C (p.Asp270Ala)
|
rs747841550
|
0.00003
|
NM_004183.4(BEST1):c.933C>T (p.Val311=)
|
rs281865278
|
0.00003
|
NM_004183.4(BEST1):c.991C>T (p.Arg331Trp)
|
rs757536535
|
0.00003
|
NM_004183.4(BEST1):c.1001C>T (p.Pro334Leu)
|
rs148326372
|
0.00002
|
NM_004183.4(BEST1):c.102C>T (p.Gly34=)
|
rs771898125
|
0.00002
|
NM_004183.4(BEST1):c.1041C>T (p.Tyr347=)
|
rs759411214
|
0.00002
|
NM_004183.4(BEST1):c.1065T>A (p.Arg355=)
|
rs764237648
|
0.00002
|
NM_004183.4(BEST1):c.1174C>T (p.Arg392Cys)
|
rs762903676
|
0.00002
|
NM_004183.4(BEST1):c.1230C>A (p.Thr410=)
|
rs908879383
|
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.1455G>A (p.Ala485=)
|
rs537948782
|
0.00002
|
NM_004183.4(BEST1):c.1529A>G (p.Lys510Arg)
|
rs1346625604
|
0.00002
|
NM_004183.4(BEST1):c.1554G>A (p.Glu518=)
|
rs1338312225
|
0.00002
|
NM_004183.4(BEST1):c.1740-2A>G
|
rs1190983296
|
0.00002
|
NM_004183.4(BEST1):c.244C>T (p.Leu82=)
|
rs281865530
|
0.00002
|
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)
|
rs374517178
|
0.00002
|
NM_004183.4(BEST1):c.313C>T (p.Arg105Cys)
|
rs281865273
|
0.00002
|
NM_004183.4(BEST1):c.342C>T (p.Val114=)
|
rs1162944741
|
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.669C>A (p.His223Gln)
|
rs200162075
|
0.00002
|
NM_004183.4(BEST1):c.70T>C (p.Trp24Arg)
|
rs1334381137
|
0.00002
|
NM_004183.4(BEST1):c.954C>G (p.Ser318=)
|
rs144231113
|
0.00002
|
NM_004183.4(BEST1):c.1066C>T (p.Arg356Ter)
|
rs1295669283
|
0.00001
|
NM_004183.4(BEST1):c.1100+18G>A
|
rs1395057978
|
0.00001
|
NM_004183.4(BEST1):c.1123T>G (p.Phe375Val)
|
rs756372609
|
0.00001
|
NM_004183.4(BEST1):c.1175del (p.Arg392fs)
|
rs1490119932
|
0.00001
|
NM_004183.4(BEST1):c.117C>T (p.Phe39=)
|
rs1465926336
|
0.00001
|
NM_004183.4(BEST1):c.1206T>A (p.His402Gln)
|
rs764148803
|
0.00001
|
NM_004183.4(BEST1):c.1212C>T (p.Pro404=)
|
rs765611891
|
0.00001
|
NM_004183.4(BEST1):c.122T>C (p.Leu41Pro)
|
rs121918288
|
0.00001
|
NM_004183.4(BEST1):c.1267G>A (p.Glu423Lys)
|
rs779855350
|
0.00001
|
NM_004183.4(BEST1):c.1311G>T (p.Arg437Ser)
|
rs760747956
|
0.00001
|
NM_004183.4(BEST1):c.1331C>T (p.Ala444Val)
|
rs1942171666
|
0.00001
|
NM_004183.4(BEST1):c.1353C>T (p.Asp451=)
|
rs371105070
|
0.00001
|
NM_004183.4(BEST1):c.1354G>A (p.Ala452Thr)
|
rs1392588193
|
0.00001
|
NM_004183.4(BEST1):c.1426C>T (p.Pro476Ser)
|
rs933520843
|
0.00001
|
NM_004183.4(BEST1):c.1430T>C (p.Met477Thr)
|
rs775915631
|
0.00001
|
NM_004183.4(BEST1):c.1444del (p.Glu482fs)
|
rs759410076
|
0.00001
|
NM_004183.4(BEST1):c.1454C>T (p.Ala485Val)
|
rs867577834
|
0.00001
|
NM_004183.4(BEST1):c.1458G>A (p.Pro486=)
|
rs764636188
|
0.00001
|
NM_004183.4(BEST1):c.1498A>G (p.Lys500Glu)
|
rs368374819
|
0.00001
|
NM_004183.4(BEST1):c.1504T>C (p.Leu502=)
|
rs1591313203
|
0.00001
|
NM_004183.4(BEST1):c.150T>C (p.Tyr50=)
|
rs763141918
|
0.00001
|
NM_004183.4(BEST1):c.152+15G>A
|
rs1488178170
|
0.00001
|
NM_004183.4(BEST1):c.152+6G>T
|
rs764420497
|
0.00001
|
NM_004183.4(BEST1):c.152+7C>T
|
rs1305920977
|
0.00001
|
NM_004183.4(BEST1):c.1532A>G (p.Lys511Arg)
|
rs1199787091
|
0.00001
|
NM_004183.4(BEST1):c.1535G>A (p.Ser512Asn)
|
rs775584943
|
0.00001
|
NM_004183.4(BEST1):c.1558G>A (p.Asp520Asn)
|
rs61747600
|
0.00001
|
NM_004183.4(BEST1):c.1574A>C (p.Glu525Ala)
|
rs200582915
|
0.00001
|
NM_004183.4(BEST1):c.159C>A (p.Ala53=)
|
rs375873874
|
0.00001
|
NM_004183.4(BEST1):c.1626G>A (p.Thr542=)
|
rs201492421
|
0.00001
|
NM_004183.4(BEST1):c.1629T>A (p.Asp543Glu)
|
rs1301327650
|
0.00001
|
NM_004183.4(BEST1):c.162C>T (p.Leu54=)
|
rs368518407
|
0.00001
|
NM_004183.4(BEST1):c.1638G>A (p.Glu546=)
|
rs1296812524
|
0.00001
|
NM_004183.4(BEST1):c.1648A>G (p.Asn550Asp)
|
rs1268844906
|
0.00001
|
NM_004183.4(BEST1):c.1653C>T (p.His551=)
|
rs1479798000
|
0.00001
|
NM_004183.4(BEST1):c.165G>A (p.Thr55=)
|
rs62637050
|
0.00001
|
NM_004183.4(BEST1):c.1678C>A (p.Pro560Thr)
|
rs1942217534
|
0.00001
|
NM_004183.4(BEST1):c.1693A>G (p.Thr565Ala)
|
rs767436221
|
0.00001
|
NM_004183.4(BEST1):c.1729T>C (p.Leu577=)
|
rs200653958
|
0.00001
|
NM_004183.4(BEST1):c.1733A>G (p.Glu578Gly)
|
rs1800010
|
0.00001
|
NM_004183.4(BEST1):c.1740-3T>G
|
rs1554965067
|
0.00001
|
NM_004183.4(BEST1):c.1754C>A (p.Ser585Tyr)
|
rs1415218452
|
0.00001
|
NM_004183.4(BEST1):c.1755C>A (p.Ser585=)
|
rs751838445
|
0.00001
|
NM_004183.4(BEST1):c.20G>A (p.Ser7Asn)
|
rs199508634
|
0.00001
|
NM_004183.4(BEST1):c.274C>A (p.Arg92Ser)
|
rs281865224
|
0.00001
|
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu)
|
rs980876322
|
0.00001
|
NM_004183.4(BEST1):c.290A>G (p.Tyr97Cys)
|
rs369484820
|
0.00001
|
NM_004183.4(BEST1):c.313C>A (p.Arg105Ser)
|
rs281865273
|
0.00001
|
NM_004183.4(BEST1):c.357G>A (p.Glu119=)
|
rs751079575
|
0.00001
|
NM_004183.4(BEST1):c.387C>T (p.Ile129=)
|
rs375950291
|
0.00001
|
NM_004183.4(BEST1):c.38G>A (p.Arg13His)
|
rs281865209
|
0.00001
|
NM_004183.4(BEST1):c.397A>C (p.Asn133His)
|
rs755851136
|
0.00001
|
NM_004183.4(BEST1):c.398A>G (p.Asn133Ser)
|
rs779799704
|
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.448C>A (p.Arg150Ser)
|
rs1177798663
|
0.00001
|
NM_004183.4(BEST1):c.449G>C (p.Arg150Pro)
|
rs1249897117
|
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.494C>T (p.Pro165Leu)
|
rs1422259821
|
0.00001
|
NM_004183.4(BEST1):c.56G>A (p.Arg19His)
|
rs752923595
|
0.00001
|
NM_004183.4(BEST1):c.582G>A (p.Lys194=)
|
rs546228761
|
0.00001
|
NM_004183.4(BEST1):c.585G>A (p.Ala195=)
|
rs776011957
|
0.00001
|
NM_004183.4(BEST1):c.5C>G (p.Thr2Ser)
|
rs1209208472
|
0.00001
|
NM_004183.4(BEST1):c.605G>A (p.Arg202Gln)
|
rs753437612
|
0.00001
|
NM_004183.4(BEST1):c.636+6C>T
|
rs1459708062
|
0.00001
|
NM_004183.4(BEST1):c.636C>T (p.Asn212=)
|
rs764196815
|
0.00001
|
NM_004183.4(BEST1):c.637-17C>T
|
rs1565391842
|
0.00001
|
NM_004183.4(BEST1):c.638A>G (p.Glu213Gly)
|
rs748685592
|
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.699A>G (p.Pro233=)
|
rs760816505
|
0.00001
|
NM_004183.4(BEST1):c.714+13C>T
|
rs571352824
|
0.00001
|
NM_004183.4(BEST1):c.714+3G>T
|
rs779217427
|
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.813C>T (p.Leu271=)
|
rs370397270
|
0.00001
|
NM_004183.4(BEST1):c.822C>T (p.Pro274=)
|
rs759678509
|
0.00001
|
NM_004183.4(BEST1):c.823G>A (p.Val275Ile)
|
rs281865276
|
0.00001
|
NM_004183.4(BEST1):c.831G>A (p.Thr277=)
|
rs62639274
|
0.00001
|
NM_004183.4(BEST1):c.847T>C (p.Phe283Leu)
|
rs1941618250
|
0.00001
|
NM_004183.4(BEST1):c.860G>A (p.Trp287Ter)
|
rs753334817
|
0.00001
|
NM_004183.4(BEST1):c.861G>C (p.Trp287Cys)
|
rs1474961573
|
0.00001
|
NM_004183.4(BEST1):c.867+16G>A
|
rs758028526
|
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.928A>G (p.Ile310Val)
|
rs1247710193
|
0.00001
|
NM_004183.4(BEST1):c.934G>A (p.Asp312Asn)
|
rs281865277
|
0.00001
|
NM_004183.4(BEST1):c.97T>C (p.Tyr33His)
|
rs994248373
|
0.00001
|
NM_004183.4(BEST1):c.99T>C (p.Tyr33=)
|
rs373950010
|
0.00001
|
NC_000011.9:g.(?_61717900)_(61719450_?)del
|
|
|
NC_000011.9:g.(?_61719279)_(61727535_?)dup
|
|
|
NC_000011.9:g.(?_61722559)_(61723443_?)del
|
|
|
NC_000011.9:g.(?_61722559)_(61727535_?)del
|
|
|
NC_000011.9:g.(?_61725598)_(61730385_?)del
|
|
|
NM_004183.4(BEST1):c.-37+5G>A
|
|
|
NM_004183.4(BEST1):c.1002G>A (p.Pro334=)
|
rs372081341
|
|
NM_004183.4(BEST1):c.1012T>A (p.Trp338Arg)
|
|
|
NM_004183.4(BEST1):c.1014_1015delinsCT (p.Trp338_Asn339delinsCysTyr)
|
rs2134455849
|
|
NM_004183.4(BEST1):c.1017T>C (p.Asn339=)
|
rs2134455868
|
|
NM_004183.4(BEST1):c.1019A>C (p.Lys340Thr)
|
|
|
NM_004183.4(BEST1):c.1024G>A (p.Glu342Lys)
|
rs202234687
|
|
NM_004183.4(BEST1):c.1033C>G (p.Pro345Ala)
|
|
|
NM_004183.4(BEST1):c.1036C>G (p.Pro346Ala)
|
rs1481681066
|
|
NM_004183.4(BEST1):c.1037C>A (p.Pro346His)
|
|
|
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys)
|
rs886041142
|
|
NM_004183.4(BEST1):c.1048G>A (p.Ala350Thr)
|
|
|
NM_004183.4(BEST1):c.1053C>T (p.Ser351=)
|
|
|
NM_004183.4(BEST1):c.1059G>A (p.Gln353=)
|
|
|
NM_004183.4(BEST1):c.1063C>G (p.Arg355Gly)
|
rs139637557
|
|
NM_004183.4(BEST1):c.1066C>G (p.Arg356Gly)
|
|
|
NM_004183.4(BEST1):c.1067G>A (p.Arg356Gln)
|
rs751707411
|
|
NM_004183.4(BEST1):c.1067G>T (p.Arg356Leu)
|
rs751707411
|
|
NM_004183.4(BEST1):c.1095C>T (p.Asn365=)
|
|
|
NM_004183.4(BEST1):c.109_110delinsCC (p.Leu37Pro)
|
rs2134409956
|
|
NM_004183.4(BEST1):c.1100+12G>A
|
|
|
NM_004183.4(BEST1):c.1100+1G>C
|
rs1434513582
|
|
NM_004183.4(BEST1):c.1100+4T>C
|
|
|
NM_004183.4(BEST1):c.1101-14C>A
|
|
|
NM_004183.4(BEST1):c.1101-1G>C
|
|
|
NM_004183.4(BEST1):c.1101-7T>C
|
|
|
NM_004183.4(BEST1):c.1102C>T (p.Leu368=)
|
|
|
NM_004183.4(BEST1):c.1111GAG[1] (p.Glu372del)
|
rs750298564
|
|
NM_004183.4(BEST1):c.1120dup (p.Glu374fs)
|
rs766357080
|
|
NM_004183.4(BEST1):c.1122G>A (p.Glu374=)
|
rs2134467975
|
|
NM_004183.4(BEST1):c.113T>G (p.Ile38Ser)
|
rs1064796849
|
|
NM_004183.4(BEST1):c.1140G>C (p.Glu380Asp)
|
|
|
NM_004183.4(BEST1):c.1143C>G (p.Asp381Glu)
|
|
|
NM_004183.4(BEST1):c.1144G>A (p.Glu382Lys)
|
|
|
NM_004183.4(BEST1):c.1147G>C (p.Glu383Gln)
|
rs1479677299
|
|
NM_004183.4(BEST1):c.1175G>A (p.Arg392His)
|
|
|
NM_004183.4(BEST1):c.1180C>T (p.Leu394=)
|
rs2134468496
|
|
NM_004183.4(BEST1):c.1196A>G (p.His399Arg)
|
rs2134468608
|
|
NM_004183.4(BEST1):c.1198G>C (p.Asp400His)
|
rs767605874
|
|
NM_004183.4(BEST1):c.119dup (p.Leu41fs)
|
rs2134410058
|
|
NM_004183.4(BEST1):c.11C>T (p.Thr4Ile)
|
rs368383940
|
|
NM_004183.4(BEST1):c.1206T>C (p.His402=)
|
rs764148803
|
|
NM_004183.4(BEST1):c.1211C>T (p.Pro404Leu)
|
|
|
NM_004183.4(BEST1):c.1214G>A (p.Arg405Lys)
|
|
|
NM_004183.4(BEST1):c.1229C>T (p.Thr410Ile)
|
|
|
NM_004183.4(BEST1):c.1248G>A (p.Lys416=)
|
|
|
NM_004183.4(BEST1):c.1252G>A (p.Glu418Lys)
|
|
|
NM_004183.4(BEST1):c.1266C>T (p.His422=)
|
rs1942163006
|
|
NM_004183.4(BEST1):c.1311G>A (p.Arg437=)
|
rs760747956
|
|
NM_004183.4(BEST1):c.1317G>A (p.Gln439=)
|
|
|
NM_004183.4(BEST1):c.1319_1388del (p.Glu440fs)
|
rs2134469325
|
|
NM_004183.4(BEST1):c.1321G>A (p.Asp441Asn)
|
|
|
NM_004183.4(BEST1):c.1323CAA[1] (p.Asn442del)
|
rs1316030506
|
|
NM_004183.4(BEST1):c.132C>T (p.Tyr44=)
|
|
|
NM_004183.4(BEST1):c.133A>G (p.Ile45Val)
|
|
|
NM_004183.4(BEST1):c.1348G>A (p.Val450Met)
|
rs764761141
|
|
NM_004183.4(BEST1):c.1348G>T (p.Val450Leu)
|
|
|
NM_004183.4(BEST1):c.1353C>G (p.Asp451Glu)
|
rs371105070
|
|
NM_004183.4(BEST1):c.1358T>C (p.Phe453Ser)
|
|
|
NM_004183.4(BEST1):c.135C>T (p.Ile45=)
|
rs2134410137
|
|
NM_004183.4(BEST1):c.1364C>G (p.Ser455Cys)
|
|
|
NM_004183.4(BEST1):c.1365T>A (p.Ser455=)
|
|
|
NM_004183.4(BEST1):c.1373T>G (p.Leu458Arg)
|
|
|
NM_004183.4(BEST1):c.1374G>A (p.Leu458=)
|
rs980929355
|
|
NM_004183.4(BEST1):c.137T>C (p.Ile46Thr)
|
rs989919477
|
|
NM_004183.4(BEST1):c.1382G>C (p.Arg461Thr)
|
|
|
NM_004183.4(BEST1):c.1396A>G (p.Ser466Gly)
|
|
|
NM_004183.4(BEST1):c.13T>A (p.Tyr5Asn)
|
|
|
NM_004183.4(BEST1):c.1400C>A (p.Ala467Asp)
|
|
|
NM_004183.4(BEST1):c.1403C>T (p.Pro468Leu)
|
rs747043918
|
|
NM_004183.4(BEST1):c.1407G>A (p.Gln469=)
|
|
|
NM_004183.4(BEST1):c.140G>T (p.Arg47Leu)
|
|
|
NM_004183.4(BEST1):c.141C>A (p.Arg47=)
|
rs2134410214
|
|
NM_004183.4(BEST1):c.1421C>T (p.Pro474Leu)
|
rs1162446542
|
|
NM_004183.4(BEST1):c.1443A>G (p.Leu481=)
|
|
|
NM_004183.4(BEST1):c.1450T>C (p.Ser484Pro)
|
|
|
NM_004183.4(BEST1):c.1464G>A (p.Lys488=)
|
|
|
NM_004183.4(BEST1):c.146T>C (p.Ile49Thr)
|
|
|
NM_004183.4(BEST1):c.1470_1471del (p.His490fs)
|
rs281865528
|
|
NM_004183.4(BEST1):c.1473T>C (p.Ser491=)
|
rs1464468544
|
|
NM_004183.4(BEST1):c.1483A>G (p.Ile495Val)
|
|
|
NM_004183.4(BEST1):c.1490C>A (p.Thr497Asn)
|
rs578075838
|
|
NM_004183.4(BEST1):c.1492A>G (p.Lys498Glu)
|
rs1565043094
|
|
NM_004183.4(BEST1):c.1501_1508del (p.Ser501fs)
|
|
|
NM_004183.4(BEST1):c.1506A>G (p.Leu502=)
|
|
|
NM_004183.4(BEST1):c.1506A>T (p.Leu502Phe)
|
|
|
NM_004183.4(BEST1):c.1513G>C (p.Val505Leu)
|
|
|
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs)
|
rs752521456
|
|
NM_004183.4(BEST1):c.1518T>C (p.Ser506=)
|
rs1283936353
|
|
NM_004183.4(BEST1):c.1526C>A (p.Ala509Asp)
|
|
|
NM_004183.4(BEST1):c.1527C>T (p.Ala509=)
|
|
|
NM_004183.4(BEST1):c.152G>A (p.Arg51Lys)
|
rs914504094
|
|
NM_004183.4(BEST1):c.153-13C>A
|
|
|
NM_004183.4(BEST1):c.153-18C>A
|
rs568192399
|
|
NM_004183.4(BEST1):c.153-22CCACCC[2]
|
rs398124110
|
|
NM_004183.4(BEST1):c.153-3C>T
|
|
|
NM_004183.4(BEST1):c.153-9C>G
|
rs763090309
|
|
NM_004183.4(BEST1):c.1533_1534del (p.Ser512fs)
|
rs1244671706
|
|
NM_004183.4(BEST1):c.1535G>T (p.Ser512Ile)
|
rs775584943
|
|
NM_004183.4(BEST1):c.153G>A (p.Arg51=)
|
|
|
NM_004183.4(BEST1):c.1541A>G (p.Glu514Gly)
|
|
|
NM_004183.4(BEST1):c.1555A>C (p.Ser519Arg)
|
|
|
NM_004183.4(BEST1):c.1560T>A (p.Asp520Glu)
|
rs138689602
|
|
NM_004183.4(BEST1):c.1561G>A (p.Gly521Arg)
|
|
|
NM_004183.4(BEST1):c.1571T>G (p.Met524Arg)
|
|
|
NM_004183.4(BEST1):c.1572G>A (p.Met524Ile)
|
rs1278023846
|
|
NM_004183.4(BEST1):c.1582G>C (p.Glu528Gln)
|
rs1942204956
|
|
NM_004183.4(BEST1):c.1598GGA[1] (p.Arg534del)
|
rs2134471443
|
|
NM_004183.4(BEST1):c.1608_1609inv (p.Val537Met)
|
|
|
NM_004183.4(BEST1):c.1612G>A (p.Glu538Lys)
|
|
|
NM_004183.4(BEST1):c.1612G>C (p.Glu538Gln)
|
|
|
NM_004183.4(BEST1):c.1622del (p.Leu541fs)
|
rs1942209287
|
|
NM_004183.4(BEST1):c.1625C>G (p.Thr542Arg)
|
|
|
NM_004183.4(BEST1):c.1625C>T (p.Thr542Met)
|
|
|
NM_004183.4(BEST1):c.1631T>C (p.Met544Thr)
|
|
|
NM_004183.4(BEST1):c.1636G>C (p.Glu546Gln)
|
rs773615280
|
|
NM_004183.4(BEST1):c.1645G>A (p.Glu549Lys)
|
|
|
NM_004183.4(BEST1):c.164C>T (p.Thr55Met)
|
rs756657082
|
|
NM_004183.4(BEST1):c.1657A>C (p.Lys553Gln)
|
|
|
NM_004183.4(BEST1):c.1660G>C (p.Glu554Gln)
|
|
|
NM_004183.4(BEST1):c.1667T>C (p.Leu556Ser)
|
|
|
NM_004183.4(BEST1):c.1668G>C (p.Leu556Phe)
|
|
|
NM_004183.4(BEST1):c.1680A>T (p.Pro560=)
|
|
|
NM_004183.4(BEST1):c.1689A>G (p.Ile563Met)
|
rs2134472255
|
|
NM_004183.4(BEST1):c.1694_1695delinsAC (p.Thr565Asn)
|
rs1942219945
|
|
NM_004183.4(BEST1):c.1697C>A (p.Thr566Lys)
|
|
|
NM_004183.4(BEST1):c.16A>G (p.Thr6Ala)
|
rs28940275
|
|
NM_004183.4(BEST1):c.1704dup (p.Asp569fs)
|
|
|
NM_004183.4(BEST1):c.171ACA[1] (p.Gln59del)
|
rs1221728254
|
|
NM_004183.4(BEST1):c.1722T>C (p.Tyr574=)
|
|
|
NM_004183.4(BEST1):c.1722T>G (p.Tyr574Ter)
|
rs755188083
|
|
NM_004183.4(BEST1):c.1725G>A (p.Trp575Ter)
|
rs779295905
|
|
NM_004183.4(BEST1):c.172_173dup (p.Gln58fs)
|
rs672601356
|
|
NM_004183.4(BEST1):c.1739+13C>T
|
|
|
NM_004183.4(BEST1):c.1739+14del
|
|
|
NM_004183.4(BEST1):c.1739+19C>A
|
|
|
NM_004183.4(BEST1):c.1740-18T>C
|
rs2134480560
|
|
NM_004183.4(BEST1):c.1740-18_1740-17del
|
|
|
NM_004183.4(BEST1):c.1740-19A>G
|
|
|
NM_004183.4(BEST1):c.1740-1G>A
|
|
|
NM_004183.4(BEST1):c.1740-1G>C
|
|
|
NM_004183.4(BEST1):c.1740-2A>C
|
rs1190983296
|
|
NM_004183.4(BEST1):c.1740G>A (p.Arg580=)
|
rs1024500096
|
|
NM_004183.4(BEST1):c.1746A>C (p.Glu582Asp)
|
|
|
NM_004183.4(BEST1):c.179T>C (p.Leu60Pro)
|
|
|
NM_004183.4(BEST1):c.17C>A (p.Thr6Lys)
|
|
|
NM_004183.4(BEST1):c.17C>G (p.Thr6Arg)
|
rs281865204
|
|
NM_004183.4(BEST1):c.190A>T (p.Lys64Ter)
|
rs2134425489
|
|
NM_004183.4(BEST1):c.1A>G (p.Met1Val)
|
|
|
NM_004183.4(BEST1):c.214T>G (p.Tyr72Asp)
|
rs1941150173
|
|
NM_004183.4(BEST1):c.215A>G (p.Tyr72Cys)
|
rs2134425715
|
|
NM_004183.4(BEST1):c.218T>A (p.Ile73Asn)
|
rs1591280714
|
|
NM_004183.4(BEST1):c.218T>C (p.Ile73Thr)
|
|
|
NM_004183.4(BEST1):c.221A>G (p.Gln74Arg)
|
|
|
NM_004183.4(BEST1):c.224T>C (p.Leu75Pro)
|
rs2134425822
|
|
NM_004183.4(BEST1):c.225C>T (p.Leu75=)
|
rs1941153193
|
|
NM_004183.4(BEST1):c.226A>T (p.Ile76Phe)
|
rs1941153466
|
|
NM_004183.4(BEST1):c.227T>A (p.Ile76Asn)
|
|
|
NM_004183.4(BEST1):c.227T>C (p.Ile76Thr)
|
|
|
NM_004183.4(BEST1):c.233T>C (p.Ile78Thr)
|
rs2134425906
|
|
NM_004183.4(BEST1):c.238T>A (p.Phe80Ile)
|
rs1064793051
|
|
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.241G>T (p.Val81Leu)
|
rs1555098634
|
|
NM_004183.4(BEST1):c.243G>A (p.Val81=)
|
|
|
NM_004183.4(BEST1):c.244C>G (p.Leu82Val)
|
rs281865530
|
|
NM_004183.4(BEST1):c.247+10C>A
|
|
|
NM_004183.4(BEST1):c.247+10C>G
|
rs1173614954
|
|
NM_004183.4(BEST1):c.247+12del
|
rs777306046
|
|
NM_004183.4(BEST1):c.247+18G>A
|
|
|
NM_004183.4(BEST1):c.247+20T>A
|
|
|
NM_004183.4(BEST1):c.248-17C>T
|
|
|
NM_004183.4(BEST1):c.248-1G>A
|
rs2134429776
|
|
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.257T>A (p.Val86Glu)
|
rs2134429825
|
|
NM_004183.4(BEST1):c.257T>C (p.Val86Ala)
|
rs2134429825
|
|
NM_004183.4(BEST1):c.25G>C (p.Val9Leu)
|
rs28940276
|
|
NM_004183.4(BEST1):c.268G>A (p.Val90Met)
|
rs1343490048
|
|
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.278G>T (p.Trp93Leu)
|
rs2134430043
|
|
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.287_298del (p.Gln96_Asn99del)
|
rs1555099048
|
|
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.293A>G (p.Glu98Gly)
|
|
|
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.297C>T (p.Asn99=)
|
|
|
NM_004183.4(BEST1):c.299T>G (p.Leu100Arg)
|
rs281865228
|
|
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.316C>T (p.Leu106Phe)
|
rs1818911095
|
|
NM_004183.4(BEST1):c.318C>A (p.Leu106=)
|
rs2134430461
|
|
NM_004183.4(BEST1):c.321G>A (p.Met107Ile)
|
rs1941260323
|
|
NM_004183.4(BEST1):c.324C>T (p.Ser108=)
|
rs1565388478
|
|
NM_004183.4(BEST1):c.326T>C (p.Leu109Pro)
|
rs1941260986
|
|
NM_004183.4(BEST1):c.32A>G (p.Asn11Ser)
|
rs281865208
|
|
NM_004183.4(BEST1):c.334_340del (p.Gly112fs)
|
rs1591284015
|
|
NM_004183.4(BEST1):c.33T>G (p.Asn11Lys)
|
rs281865531
|
|
NM_004183.4(BEST1):c.340G>C (p.Val114Leu)
|
rs2134430632
|
|
NM_004183.4(BEST1):c.342C>G (p.Val114=)
|
rs1162944741
|
|
NM_004183.4(BEST1):c.352G>A (p.Asp118Asn)
|
rs1400987360
|
|
NM_004183.4(BEST1):c.355G>A (p.Glu119Lys)
|
|
|
NM_004183.4(BEST1):c.35C>A (p.Ala12Asp)
|
|
|
NM_004183.4(BEST1):c.35C>T (p.Ala12Val)
|
|
|
NM_004183.4(BEST1):c.360A>G (p.Gln120=)
|
|
|
NM_004183.4(BEST1):c.362G>C (p.Gly121Ala)
|
|
|
NM_004183.4(BEST1):c.371T>A (p.Leu124Gln)
|
rs2134430916
|
|
NM_004183.4(BEST1):c.385A>C (p.Ile129Leu)
|
rs1941270968
|
|
NM_004183.4(BEST1):c.388C>T (p.Arg130Cys)
|
|
|
NM_004183.4(BEST1):c.391T>C (p.Tyr131His)
|
rs1941271894
|
|
NM_004183.4(BEST1):c.396del (p.Asn133fs)
|
|
|
NM_004183.4(BEST1):c.39C>T (p.Arg13=)
|
|
|
NM_004183.4(BEST1):c.401T>C (p.Leu134Pro)
|
|
|
NM_004183.4(BEST1):c.403G>A (p.Gly135Ser)
|
rs281865234
|
|
NM_004183.4(BEST1):c.41T>C (p.Leu14Ser)
|
|
|
NM_004183.4(BEST1):c.427G>C (p.Val143Leu)
|
rs1378679988
|
|
NM_004183.4(BEST1):c.427G>T (p.Val143Phe)
|
rs1378679988
|
|
NM_004183.4(BEST1):c.428T>C (p.Val143Ala)
|
|
|
NM_004183.4(BEST1):c.431G>A (p.Ser144Asn)
|
|
|
NM_004183.4(BEST1):c.436G>A (p.Ala146Thr)
|
rs1237501081
|
|
NM_004183.4(BEST1):c.436G>T (p.Ala146Ser)
|
rs1237501081
|
|
NM_004183.4(BEST1):c.436_437delinsAA (p.Ala146Lys)
|
rs1800995
|
|
NM_004183.4(BEST1):c.448C>T (p.Arg150Cys)
|
rs1177798663
|
|
NM_004183.4(BEST1):c.449G>A (p.Arg150His)
|
rs1249897117
|
|
NM_004183.4(BEST1):c.44G>A (p.Gly15Asp)
|
rs766379510
|
|
NM_004183.4(BEST1):c.454C>T (p.Pro152Ser)
|
|
|
NM_004183.4(BEST1):c.467A>G (p.His156Arg)
|
|
|
NM_004183.4(BEST1):c.46T>C (p.Ser16Pro)
|
|
|
NM_004183.4(BEST1):c.474G>C (p.Val158=)
|
|
|
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.481+11C>A
|
|
|
NM_004183.4(BEST1):c.481+11C>T
|
|
|
NM_004183.4(BEST1):c.481+12G>C
|
rs888828739
|
|
NM_004183.4(BEST1):c.481+15A>G
|
|
|
NM_004183.4(BEST1):c.481+20C>T
|
|
|
NM_004183.4(BEST1):c.481+7_481+28del
|
|
|
NM_004183.4(BEST1):c.482-8C>G
|
|
|
NM_004183.4(BEST1):c.49T>A (p.Phe17Ile)
|
rs1940696088
|
|
NM_004183.4(BEST1):c.506A>G (p.Lys169Arg)
|
rs2134437023
|
|
NM_004183.4(BEST1):c.508C>T (p.Gln170Ter)
|
|
|
NM_004183.4(BEST1):c.50_52del (p.Phe17del)
|
rs2134409356
|
|
NM_004183.4(BEST1):c.511T>C (p.Leu171=)
|
rs2134437052
|
|
NM_004183.4(BEST1):c.514G>A (p.Glu172Lys)
|
|
|
NM_004183.4(BEST1):c.521T>C (p.Leu174Pro)
|
rs1941425177
|
|
NM_004183.4(BEST1):c.522G>A (p.Leu174=)
|
rs1302876995
|
|
NM_004183.4(BEST1):c.524del (p.Ser175fs)
|
|
|
NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del)
|
rs775979290
|
|
NM_004183.4(BEST1):c.559T>G (p.Trp187Gly)
|
rs1941429437
|
|
NM_004183.4(BEST1):c.564T>C (p.Phe188=)
|
|
|
NM_004183.4(BEST1):c.568A>T (p.Asn190Tyr)
|
|
|
NM_004183.4(BEST1):c.572T>C (p.Leu191Pro)
|
rs1484152128
|
|
NM_004183.4(BEST1):c.575C>A (p.Ser192Ter)
|
|
|
NM_004183.4(BEST1):c.579_580insCATT (p.Lys194delinsHisTer)
|
rs2134437355
|
|
NM_004183.4(BEST1):c.588G>T (p.Trp196Cys)
|
|
|
NM_004183.4(BEST1):c.589C>A (p.Leu197Ile)
|
rs2134437464
|
|
NM_004183.4(BEST1):c.596G>A (p.Gly199Asp)
|
rs1941434511
|
|
NM_004183.4(BEST1):c.599G>A (p.Arg200Gln)
|
|
|
NM_004183.4(BEST1):c.59T>C (p.Leu20Pro)
|
|
|
NM_004183.4(BEST1):c.60G>A (p.Leu20=)
|
rs2134409489
|
|
NM_004183.4(BEST1):c.611C>G (p.Pro204Arg)
|
|
|
NM_004183.4(BEST1):c.614T>C (p.Ile205Thr)
|
rs267606680
|
|
NM_004183.4(BEST1):c.618_619delinsAA (p.Leu207Ile)
|
rs386754168
|
|
NM_004183.4(BEST1):c.61C>G (p.Leu21Val)
|
rs281865212
|
|
NM_004183.4(BEST1):c.620T>A (p.Leu207His)
|
rs1591289408
|
|
NM_004183.4(BEST1):c.626G>A (p.Ser209Asn)
|
rs281865237
|
|
NM_004183.4(BEST1):c.626G>C (p.Ser209Thr)
|
|
|
NM_004183.4(BEST1):c.628C>T (p.Leu210=)
|
|
|
NM_004183.4(BEST1):c.62T>A (p.Leu21Gln)
|
rs758726044
|
|
NM_004183.4(BEST1):c.62T>G (p.Leu21Arg)
|
|
|
NM_004183.4(BEST1):c.636+18A>C
|
rs2134437913
|
|
NM_004183.4(BEST1):c.636+1G>T
|
|
|
NM_004183.4(BEST1):c.637-18C>G
|
rs116299220
|
|
NM_004183.4(BEST1):c.637-19C>T
|
rs1237256525
|
|
NM_004183.4(BEST1):c.637-3C>A
|
rs558768495
|
|
NM_004183.4(BEST1):c.637G>A (p.Glu213Lys)
|
|
|
NM_004183.4(BEST1):c.651G>T (p.Leu217Phe)
|
|
|
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.653G>T (p.Arg218Leu)
|
|
|
NM_004183.4(BEST1):c.655A>C (p.Thr219Pro)
|
|
|
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.668A>C (p.His223Pro)
|
rs2134440248
|
|
NM_004183.4(BEST1):c.66G>A (p.Leu22=)
|
rs2134409545
|
|
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.681C>T (p.Tyr227=)
|
|
|
NM_004183.4(BEST1):c.682G>C (p.Asp228His)
|
rs267606676
|
|
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu)
|
rs1431752515
|
|
NM_004183.4(BEST1):c.686G>T (p.Trp229Leu)
|
|
|
NM_004183.4(BEST1):c.689T>C (p.Ile230Thr)
|
|
|
NM_004183.4(BEST1):c.691A>G (p.Ser231Gly)
|
|
|
NM_004183.4(BEST1):c.69C>T (p.Cys23=)
|
rs1465486114
|
|
NM_004183.4(BEST1):c.700C>G (p.Leu234Val)
|
rs2134440476
|
|
NM_004183.4(BEST1):c.701T>A (p.Leu234Gln)
|
rs1941501578
|
|
NM_004183.4(BEST1):c.701T>G (p.Leu234Arg)
|
rs1941501578
|
|
NM_004183.4(BEST1):c.703G>A (p.Val235Met)
|
rs281865245
|
|
NM_004183.4(BEST1):c.703G>T (p.Val235Leu)
|
rs281865245
|
|
NM_004183.4(BEST1):c.707A>G (p.Tyr236Cys)
|
rs121918291
|
|
NM_004183.4(BEST1):c.709A>T (p.Thr237Ser)
|
rs2134440586
|
|
NM_004183.4(BEST1):c.713A>G (p.Gln238Arg)
|
rs1941503926
|
|
NM_004183.4(BEST1):c.714+17T>C
|
|
|
NM_004183.4(BEST1):c.715-10_715-9insACCTCCTCC
|
rs750482181
|
|
NM_004183.4(BEST1):c.715-15_715-14insTCTCCTCCT
|
rs1565393472
|
|
NM_004183.4(BEST1):c.715-18TCC[10]
|
|
|
NM_004183.4(BEST1):c.715-18TCC[6]
|
rs1805182
|
|
NM_004183.4(BEST1):c.715-18TCC[7]
|
rs1805182
|
|
NM_004183.4(BEST1):c.715-18TCC[8]
|
rs1805182
|
|
NM_004183.4(BEST1):c.715-18TCC[9]
|
rs1805182
|
|
NM_004183.4(BEST1):c.715-19_715-18insCCCTCCTCC
|
|
|
NM_004183.4(BEST1):c.715-4_715-3insTCCTCCTCT
|
|
|
NM_004183.4(BEST1):c.716T>C (p.Val239Ala)
|
rs2134444811
|
|
NM_004183.4(BEST1):c.720G>C (p.Val240=)
|
rs281865281
|
|
NM_004183.4(BEST1):c.722C>A (p.Thr241Asn)
|
rs281865247
|
|
NM_004183.4(BEST1):c.723T>C (p.Thr241=)
|
rs2134444859
|
|
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.744C>A (p.Phe248Leu)
|
rs2134445000
|
|
NM_004183.4(BEST1):c.745_747del (p.Leu249del)
|
|
|
NM_004183.4(BEST1):c.758T>C (p.Val253Ala)
|
|
|
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)
|
rs372989281
|
|
NM_004183.4(BEST1):c.764G>T (p.Arg255Leu)
|
rs377370089
|
|
NM_004183.4(BEST1):c.767A>G (p.Gln256Arg)
|
rs1420999724
|
|
NM_004183.4(BEST1):c.76G>A (p.Gly26Ser)
|
rs2134409637
|
|
NM_004183.4(BEST1):c.774G>A (p.Leu258=)
|
rs2134445166
|
|
NM_004183.4(BEST1):c.777_778insAA (p.Pro260fs)
|
rs1591295182
|
|
NM_004183.4(BEST1):c.779del (p.Pro260fs)
|
rs778645644
|
|
NM_004183.4(BEST1):c.77G>A (p.Gly26Asp)
|
rs748684128
|
|
NM_004183.4(BEST1):c.78C>T (p.Gly26=)
|
rs768284216
|
|
NM_004183.4(BEST1):c.797G>A (p.Gly266Asp)
|
rs794727864
|
|
NM_004183.4(BEST1):c.79A>G (p.Ser27Gly)
|
rs2134409684
|
|
NM_004183.4(BEST1):c.804G>A (p.Glu268=)
|
rs778715415
|
|
NM_004183.4(BEST1):c.80G>A (p.Ser27Asn)
|
rs1301396112
|
|
NM_004183.4(BEST1):c.810C>T (p.Asp270=)
|
rs771924494
|
|
NM_004183.4(BEST1):c.812T>C (p.Leu271Pro)
|
|
|
NM_004183.4(BEST1):c.815T>C (p.Val272Ala)
|
rs536333519
|
|
NM_004183.4(BEST1):c.819G>T (p.Val273=)
|
rs1941614432
|
|
NM_004183.4(BEST1):c.821C>A (p.Pro274His)
|
|
|
NM_004183.4(BEST1):c.826T>C (p.Phe276Leu)
|
|
|
NM_004183.4(BEST1):c.840G>A (p.Gln280=)
|
rs2134445577
|
|
NM_004183.4(BEST1):c.842TCT[2] (p.Phe283del)
|
rs281865532
|
|
NM_004183.4(BEST1):c.842_843delinsAG (p.Phe281Ter)
|
|
|
NM_004183.4(BEST1):c.848T>C (p.Phe283Ser)
|
|
|
NM_004183.4(BEST1):c.84C>T (p.Ile28=)
|
|
|
NM_004183.4(BEST1):c.850T>C (p.Tyr284His)
|
|
|
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)
|
rs727503824
|
|
NM_004183.4(BEST1):c.851_852del (p.Tyr284fs)
|
|
|
NM_004183.4(BEST1):c.852T>C (p.Tyr284=)
|
|
|
NM_004183.4(BEST1):c.867+13A>G
|
rs1346516529
|
|
NM_004183.4(BEST1):c.867+97G>A
|
|
|
NM_004183.4(BEST1):c.867+97G>T
|
rs554725612
|
|
NM_004183.4(BEST1):c.867G>A (p.Lys289=)
|
rs778383234
|
|
NM_004183.4(BEST1):c.868-1G>A
|
rs2134453079
|
|
NM_004183.4(BEST1):c.868-9G>A
|
|
|
NM_004183.4(BEST1):c.869T>C (p.Val290Ala)
|
|
|
NM_004183.4(BEST1):c.86A>G (p.Tyr29Cys)
|
rs1565382549
|
|
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.8T>A (p.Ile3Asn)
|
rs907161461
|
|
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.901GAT[3] (p.Asp304del)
|
rs281865260
|
|
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.905A>G (p.Asp302Gly)
|
rs281865263
|
|
NM_004183.4(BEST1):c.905A>T (p.Asp302Val)
|
rs281865263
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NM_004183.4(BEST1):c.906T>A (p.Asp302Glu)
|
rs2134453407
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NM_004183.4(BEST1):c.909T>A (p.Asp303Glu)
|
rs281865264
|
|
NM_004183.4(BEST1):c.912T>G (p.Asp304Glu)
|
rs1941817289
|
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NM_004183.4(BEST1):c.914T>C (p.Phe305Ser)
|
rs281865265
|
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NM_004183.4(BEST1):c.916G>C (p.Glu306Gln)
|
rs2134453498
|
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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.919A>G (p.Thr307Ala)
|
rs281865268
|
|
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.92T>G (p.Leu31Arg)
|
|
|
NM_004183.4(BEST1):c.938G>A (p.Arg313Lys)
|
|
|
NM_004183.4(BEST1):c.939G>C (p.Arg313Ser)
|
rs1941821943
|
|
NM_004183.4(BEST1):c.93G>A (p.Leu31=)
|
rs1011302811
|
|
NM_004183.4(BEST1):c.948+10G>A
|
rs2134453772
|
|
NM_004183.4(BEST1):c.948+16G>A
|
|
|
NM_004183.4(BEST1):c.948+1_948+2delinsTA
|
rs2134453733
|
|
NM_004183.4(BEST1):c.948+8G>A
|
|
|
NM_004183.4(BEST1):c.949-14T>C
|
|
|
NM_004183.4(BEST1):c.949-17_949-16del
|
rs774668020
|
|
NM_004183.4(BEST1):c.949-8G>C
|
|
|
NM_004183.4(BEST1):c.953C>A (p.Ser318Tyr)
|
rs267603070
|
|
NM_004183.4(BEST1):c.95T>C (p.Leu32Pro)
|
rs1591266591
|
|
NM_004183.4(BEST1):c.963T>C (p.Ala321=)
|
|
|
NM_004183.4(BEST1):c.970G>T (p.Glu324Ter)
|
|
|
NM_004183.4(BEST1):c.986T>C (p.Leu329Pro)
|
rs747224737
|
|
NM_004183.4(BEST1):c.992G>C (p.Arg331Pro)
|
rs201386186
|
|
NM_004183.4(BEST1):c.994del (p.Met332fs)
|
rs1941880096
|
|