NM_002972.4(SBF1):c.1058C>T (p.Pro353Leu)
|
rs185916020
|
0.00271
|
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr)
|
rs202049257
|
0.00229
|
NM_002972.4(SBF1):c.2650C>G (p.Leu884Val)
|
rs202055128
|
0.00136
|
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met)
|
rs188976869
|
0.00122
|
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp)
|
rs201399007
|
0.00091
|
NM_002972.4(SBF1):c.898-4G>A
|
rs377428323
|
0.00088
|
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His)
|
rs147869659
|
0.00084
|
NM_002972.4(SBF1):c.55G>C (p.Gly19Arg)
|
rs765666942
|
0.00075
|
NM_002972.4(SBF1):c.1426A>G (p.Lys476Glu)
|
rs9617016
|
0.00058
|
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp)
|
rs202156491
|
0.00058
|
NM_002972.4(SBF1):c.5197C>T (p.Arg1733Cys)
|
rs199972466
|
0.00057
|
NM_002972.4(SBF1):c.3250C>A (p.Pro1084Thr)
|
rs368077071
|
0.00040
|
NM_002972.4(SBF1):c.142-3C>T
|
rs191369963
|
0.00038
|
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His)
|
rs202149945
|
0.00036
|
NM_002972.4(SBF1):c.2605G>A (p.Val869Met)
|
rs200365973
|
0.00033
|
NM_002972.4(SBF1):c.4517C>T (p.Thr1506Ile)
|
rs374199797
|
0.00031
|
NM_002972.4(SBF1):c.3147-8G>C
|
rs182956712
|
0.00030
|
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp)
|
rs370182117
|
0.00027
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568
|
0.00024
|
NM_002972.4(SBF1):c.4612G>A (p.Gly1538Ser)
|
rs200471909
|
0.00023
|
NM_002972.4(SBF1):c.2464G>A (p.Val822Ile)
|
rs201061231
|
0.00022
|
NM_002972.4(SBF1):c.1312C>T (p.Pro438Ser)
|
rs201645895
|
0.00021
|
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln)
|
rs199783239
|
0.00021
|
NM_002972.4(SBF1):c.1637-5C>T
|
rs377462059
|
0.00019
|
NM_002972.4(SBF1):c.3976G>A (p.Gly1326Ser)
|
rs779507723
|
0.00019
|
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu)
|
rs201200122
|
0.00018
|
NM_002972.4(SBF1):c.1516C>T (p.Pro506Ser)
|
rs370122832
|
0.00017
|
NM_002972.4(SBF1):c.5672C>T (p.Ser1891Leu)
|
rs375565089
|
0.00017
|
NM_002972.4(SBF1):c.2643+6C>T
|
rs377495847
|
0.00016
|
NM_002972.4(SBF1):c.3985G>A (p.Ala1329Thr)
|
rs372950672
|
0.00016
|
NM_002972.4(SBF1):c.4007A>G (p.Asn1336Ser)
|
rs775736052
|
0.00016
|
NM_002972.4(SBF1):c.1316C>T (p.Thr439Met)
|
rs536887912
|
0.00015
|
NM_002972.4(SBF1):c.2824C>G (p.Pro942Ala)
|
rs200220290
|
0.00015
|
NM_002972.4(SBF1):c.2195G>A (p.Arg732His)
|
rs374201600
|
0.00014
|
NM_002972.4(SBF1):c.2621G>A (p.Arg874Gln)
|
rs370650062
|
0.00014
|
NM_002972.4(SBF1):c.3613G>C (p.Val1205Leu)
|
rs775696633
|
0.00014
|
NM_002972.4(SBF1):c.413G>A (p.Arg138Gln)
|
rs765643685
|
0.00014
|
NM_002972.4(SBF1):c.5126G>A (p.Arg1709His)
|
rs202115500
|
0.00014
|
NM_002972.4(SBF1):c.53G>C (p.Arg18Pro)
|
rs1003479968
|
0.00014
|
NM_002972.4(SBF1):c.5594C>T (p.Thr1865Met)
|
rs375012426
|
0.00014
|
NM_002972.4(SBF1):c.3044G>A (p.Arg1015Gln)
|
rs372268920
|
0.00013
|
NM_002972.4(SBF1):c.3676G>A (p.Ala1226Thr)
|
rs200852838
|
0.00013
|
NM_002972.4(SBF1):c.3808G>A (p.Ala1270Thr)
|
rs200910134
|
0.00013
|
NM_002972.4(SBF1):c.4724C>T (p.Pro1575Leu)
|
rs199779197
|
0.00012
|
NM_002972.4(SBF1):c.1873G>A (p.Val625Ile)
|
rs146850293
|
0.00011
|
NM_002972.4(SBF1):c.2350G>A (p.Gly784Arg)
|
rs368432657
|
0.00011
|
NM_002972.4(SBF1):c.3251C>T (p.Pro1084Leu)
|
rs749516637
|
0.00011
|
NM_002972.4(SBF1):c.3631G>A (p.Gly1211Ser)
|
rs746086795
|
0.00011
|
NM_002972.4(SBF1):c.1682G>A (p.Arg561Gln)
|
rs200821257
|
0.00010
|
NM_002972.4(SBF1):c.4729A>G (p.Arg1577Gly)
|
rs200699957
|
0.00010
|
NM_002972.4(SBF1):c.4753C>T (p.Arg1585Trp)
|
rs201583622
|
0.00010
|
NM_002972.4(SBF1):c.1055C>T (p.Pro352Leu)
|
rs370145179
|
0.00009
|
NM_002972.4(SBF1):c.1399G>A (p.Val467Ile)
|
rs192339446
|
0.00009
|
NM_002972.4(SBF1):c.3107G>A (p.Arg1036Gln)
|
rs370712712
|
0.00009
|
NM_002972.4(SBF1):c.3340G>A (p.Asp1114Asn)
|
rs369626870
|
0.00009
|
NM_002972.4(SBF1):c.4046G>A (p.Arg1349Gln)
|
rs767843492
|
0.00009
|
NM_002972.4(SBF1):c.4130T>C (p.Ile1377Thr)
|
rs376598966
|
0.00009
|
NM_002972.4(SBF1):c.5312G>A (p.Arg1771His)
|
rs559286048
|
0.00009
|
NM_002972.4(SBF1):c.5593A>G (p.Thr1865Ala)
|
rs376846983
|
0.00009
|
NM_002972.4(SBF1):c.721C>T (p.Arg241Trp)
|
rs368027327
|
0.00009
|
NM_002972.4(SBF1):c.2194C>T (p.Arg732Cys)
|
rs377118893
|
0.00008
|
NM_002972.4(SBF1):c.3334C>T (p.Pro1112Ser)
|
rs183944303
|
0.00008
|
NM_002972.4(SBF1):c.3772G>A (p.Ala1258Thr)
|
rs370712299
|
0.00008
|
NM_002972.4(SBF1):c.3934C>T (p.Arg1312Cys)
|
rs567286954
|
0.00008
|
NM_002972.4(SBF1):c.655+3G>A
|
rs751286537
|
0.00008
|
NM_002972.4(SBF1):c.1431+4C>T
|
rs530337132
|
0.00007
|
NM_002972.4(SBF1):c.2084G>A (p.Arg695Gln)
|
rs756798043
|
0.00007
|
NM_002972.4(SBF1):c.3274G>A (p.Glu1092Lys)
|
rs371576175
|
0.00007
|
NM_002972.4(SBF1):c.4058A>G (p.Tyr1353Cys)
|
rs373208315
|
0.00007
|
NM_002972.4(SBF1):c.5006C>T (p.Pro1669Leu)
|
rs376409019
|
0.00007
|
NM_002972.4(SBF1):c.1431+6A>T
|
rs756954512
|
0.00006
|
NM_002972.4(SBF1):c.1431C>T (p.Asn477=)
|
rs371569398
|
0.00006
|
NM_002972.4(SBF1):c.1454C>T (p.Ala485Val)
|
rs746443184
|
0.00006
|
NM_002972.4(SBF1):c.1652G>A (p.Arg551Gln)
|
rs780343478
|
0.00006
|
NM_002972.4(SBF1):c.214G>A (p.Asp72Asn)
|
rs556200860
|
0.00006
|
NM_002972.4(SBF1):c.2656C>T (p.Arg886Trp)
|
rs372390926
|
0.00006
|
NM_002972.4(SBF1):c.3766G>A (p.Ala1256Thr)
|
rs374895065
|
0.00006
|
NM_002972.4(SBF1):c.3958G>A (p.Val1320Met)
|
rs776689151
|
0.00006
|
NM_002972.4(SBF1):c.3968G>A (p.Arg1323Gln)
|
rs746388522
|
0.00006
|
NM_002972.4(SBF1):c.4037G>A (p.Arg1346His)
|
rs758581593
|
0.00006
|
NM_002972.4(SBF1):c.4975C>T (p.Arg1659Cys)
|
rs748396110
|
0.00006
|
NM_002972.4(SBF1):c.956A>G (p.His319Arg)
|
rs372068556
|
0.00006
|
NM_002972.4(SBF1):c.1792C>T (p.Arg598Cys)
|
rs750270208
|
0.00005
|
NM_002972.4(SBF1):c.2032A>G (p.Thr678Ala)
|
rs776108357
|
0.00005
|
NM_002972.4(SBF1):c.2725C>T (p.Arg909Cys)
|
rs368629580
|
0.00005
|
NM_002972.4(SBF1):c.3592C>T (p.Arg1198Cys)
|
rs371049751
|
0.00005
|
NM_002972.4(SBF1):c.4834G>A (p.Val1612Met)
|
rs370715026
|
0.00005
|
NM_002972.4(SBF1):c.5614T>G (p.Cys1872Gly)
|
rs775751855
|
0.00005
|
NM_002972.4(SBF1):c.1086G>T (p.Met362Ile)
|
rs763624442
|
0.00004
|
NM_002972.4(SBF1):c.1192C>T (p.Arg398Cys)
|
rs368553565
|
0.00004
|
NM_002972.4(SBF1):c.1203+6G>A
|
rs377184342
|
0.00004
|
NM_002972.4(SBF1):c.1696G>T (p.Val566Leu)
|
rs374194474
|
0.00004
|
NM_002972.4(SBF1):c.2122G>A (p.Ala708Thr)
|
rs747193603
|
0.00004
|
NM_002972.4(SBF1):c.2287C>T (p.Arg763Cys)
|
rs372906814
|
0.00004
|
NM_002972.4(SBF1):c.2344C>T (p.Arg782Cys)
|
rs368118073
|
0.00004
|
NM_002972.4(SBF1):c.289C>T (p.Arg97Cys)
|
rs776837522
|
0.00004
|
NM_002972.4(SBF1):c.3209G>A (p.Arg1070His)
|
rs375861754
|
0.00004
|
NM_002972.4(SBF1):c.3248A>G (p.Gln1083Arg)
|
rs759484260
|
0.00004
|
NM_002972.4(SBF1):c.3287C>T (p.Ser1096Leu)
|
rs200085962
|
0.00004
|
NM_002972.4(SBF1):c.3346A>T (p.Met1116Leu)
|
rs768000601
|
0.00004
|
NM_002972.4(SBF1):c.3488G>A (p.Arg1163His)
|
rs568731072
|
0.00004
|
NM_002972.4(SBF1):c.3611C>T (p.Ala1204Val)
|
rs773094340
|
0.00004
|
NM_002972.4(SBF1):c.3895G>A (p.Ala1299Thr)
|
rs761548255
|
0.00004
|
NM_002972.4(SBF1):c.3955G>A (p.Asp1319Asn)
|
rs551118949
|
0.00004
|
NM_002972.4(SBF1):c.4040C>A (p.Pro1347Gln)
|
rs750323488
|
0.00004
|
NM_002972.4(SBF1):c.4129A>G (p.Ile1377Val)
|
rs754252298
|
0.00004
|
NM_002972.4(SBF1):c.4708C>T (p.Arg1570Cys)
|
rs375660466
|
0.00004
|
NM_002972.4(SBF1):c.5153G>A (p.Gly1718Asp)
|
rs376937027
|
0.00004
|
NM_002972.4(SBF1):c.5309G>A (p.Arg1770His)
|
rs762399206
|
0.00004
|
NM_002972.4(SBF1):c.5401A>G (p.Met1801Val)
|
rs758345719
|
0.00004
|
NM_002972.4(SBF1):c.545C>T (p.Ser182Leu)
|
rs781458572
|
0.00004
|
NM_002972.4(SBF1):c.5534C>T (p.Thr1845Met)
|
rs374954381
|
0.00004
|
NM_002972.4(SBF1):c.869C>T (p.Ala290Val)
|
rs764238173
|
0.00004
|
NM_002972.4(SBF1):c.992C>T (p.Thr331Met)
|
rs544578906
|
0.00004
|
NM_002972.4(SBF1):c.1222C>T (p.Arg408Cys)
|
rs780215637
|
0.00003
|
NM_002972.4(SBF1):c.1364C>T (p.Ala455Val)
|
rs372926692
|
0.00003
|
NM_002972.4(SBF1):c.1979C>T (p.Pro660Leu)
|
rs777899824
|
0.00003
|
NM_002972.4(SBF1):c.2270C>T (p.Ala757Val)
|
rs1378038674
|
0.00003
|
NM_002972.4(SBF1):c.263C>T (p.Pro88Leu)
|
rs773556750
|
0.00003
|
NM_002972.4(SBF1):c.2737G>A (p.Ala913Thr)
|
rs755038470
|
0.00003
|
NM_002972.4(SBF1):c.2817G>A (p.Thr939=)
|
rs377404933
|
0.00003
|
NM_002972.4(SBF1):c.3058A>G (p.Ile1020Val)
|
rs560106517
|
0.00003
|
NM_002972.4(SBF1):c.3286T>G (p.Ser1096Ala)
|
rs1037153234
|
0.00003
|
NM_002972.4(SBF1):c.3677C>T (p.Ala1226Val)
|
rs372402880
|
0.00003
|
NM_002972.4(SBF1):c.3854C>T (p.Thr1285Met)
|
rs779092948
|
0.00003
|
NM_002972.4(SBF1):c.3878C>T (p.Ser1293Leu)
|
rs765944860
|
0.00003
|
NM_002972.4(SBF1):c.4036C>T (p.Arg1346Cys)
|
rs754583466
|
0.00003
|
NM_002972.4(SBF1):c.4086+6_4086+7del
|
rs1325501598
|
0.00003
|
NM_002972.4(SBF1):c.4145C>T (p.Ala1382Val)
|
rs368126124
|
0.00003
|
NM_002972.4(SBF1):c.4204G>A (p.Ala1402Thr)
|
rs374287730
|
0.00003
|
NM_002972.4(SBF1):c.4546G>A (p.Val1516Ile)
|
rs758253450
|
0.00003
|
NM_002972.4(SBF1):c.4549C>T (p.His1517Tyr)
|
rs535304513
|
0.00003
|
NM_002972.4(SBF1):c.4822C>T (p.Pro1608Ser)
|
rs764148193
|
0.00003
|
NM_002972.4(SBF1):c.5043+4C>T
|
rs373050155
|
0.00003
|
NM_002972.4(SBF1):c.5152-3C>T
|
rs373795386
|
0.00003
|
NM_002972.4(SBF1):c.5268_5270del (p.Gln1756_Ser1757delinsHis)
|
rs762717906
|
0.00003
|
NM_002972.4(SBF1):c.5597G>A (p.Arg1866His)
|
rs770090328
|
0.00003
|
NM_002972.4(SBF1):c.5633C>T (p.Ser1878Leu)
|
rs769363049
|
0.00003
|
NM_002972.4(SBF1):c.89G>A (p.Arg30His)
|
rs750756200
|
0.00003
|
NM_002972.4(SBF1):c.1076C>T (p.Ser359Phe)
|
rs753378000
|
0.00002
|
NM_002972.4(SBF1):c.1313C>T (p.Pro438Leu)
|
rs369453227
|
0.00002
|
NM_002972.4(SBF1):c.1332+6C>T
|
rs754287738
|
0.00002
|
NM_002972.4(SBF1):c.1432-3C>T
|
rs761815678
|
0.00002
|
NM_002972.4(SBF1):c.1519C>T (p.Arg507Trp)
|
rs756061176
|
0.00002
|
NM_002972.4(SBF1):c.1634T>C (p.Met545Thr)
|
rs761712897
|
0.00002
|
NM_002972.4(SBF1):c.1637C>T (p.Thr546Ile)
|
rs1173666513
|
0.00002
|
NM_002972.4(SBF1):c.1642A>G (p.Ile548Val)
|
rs374844148
|
0.00002
|
NM_002972.4(SBF1):c.1762G>A (p.Val588Met)
|
rs762703258
|
0.00002
|
NM_002972.4(SBF1):c.1900-3C>T
|
rs752629761
|
0.00002
|
NM_002972.4(SBF1):c.2161C>T (p.Arg721Cys)
|
rs773744488
|
0.00002
|
NM_002972.4(SBF1):c.217A>G (p.Ile73Val)
|
rs756771124
|
0.00002
|
NM_002972.4(SBF1):c.2329C>T (p.Arg777Cys)
|
rs777090431
|
0.00002
|
NM_002972.4(SBF1):c.2345G>A (p.Arg782His)
|
rs199791079
|
0.00002
|
NM_002972.4(SBF1):c.2603C>T (p.Ala868Val)
|
rs1343487002
|
0.00002
|
NM_002972.4(SBF1):c.2624G>A (p.Arg875Lys)
|
rs774901635
|
0.00002
|
NM_002972.4(SBF1):c.2662C>T (p.Arg888Cys)
|
rs770341256
|
0.00002
|
NM_002972.4(SBF1):c.2871G>A (p.Pro957=)
|
rs757816344
|
0.00002
|
NM_002972.4(SBF1):c.2899A>G (p.Ile967Val)
|
rs376364128
|
0.00002
|
NM_002972.4(SBF1):c.2967+17G>A
|
rs376483485
|
0.00002
|
NM_002972.4(SBF1):c.2987A>G (p.Asp996Gly)
|
rs559790533
|
0.00002
|
NM_002972.4(SBF1):c.3080C>T (p.Thr1027Ile)
|
rs533078751
|
0.00002
|
NM_002972.4(SBF1):c.3242G>A (p.Arg1081Gln)
|
rs767613094
|
0.00002
|
NM_002972.4(SBF1):c.3431G>T (p.Arg1144Leu)
|
rs768541253
|
0.00002
|
NM_002972.4(SBF1):c.3776C>T (p.Ser1259Leu)
|
rs770642143
|
0.00002
|
NM_002972.4(SBF1):c.3986C>T (p.Ala1329Val)
|
rs755768063
|
0.00002
|
NM_002972.4(SBF1):c.410C>T (p.Ser137Leu)
|
rs1307179149
|
0.00002
|
NM_002972.4(SBF1):c.4235G>A (p.Arg1412His)
|
rs1326204153
|
0.00002
|
NM_002972.4(SBF1):c.425C>T (p.Thr142Met)
|
rs376741098
|
0.00002
|
NM_002972.4(SBF1):c.4493T>C (p.Leu1498Pro)
|
rs753856952
|
0.00002
|
NM_002972.4(SBF1):c.4510G>A (p.Gly1504Ser)
|
rs748897740
|
0.00002
|
NM_002972.4(SBF1):c.4640G>A (p.Arg1547Gln)
|
rs753384436
|
0.00002
|
NM_002972.4(SBF1):c.473A>G (p.Glu158Gly)
|
rs1315828788
|
0.00002
|
NM_002972.4(SBF1):c.4762A>G (p.Lys1588Glu)
|
rs199795851
|
0.00002
|
NM_002972.4(SBF1):c.4769C>T (p.Thr1590Met)
|
rs371896005
|
0.00002
|
NM_002972.4(SBF1):c.4882G>A (p.Glu1628Lys)
|
rs377302977
|
0.00002
|
NM_002972.4(SBF1):c.4976G>A (p.Arg1659His)
|
rs750566645
|
0.00002
|
NM_002972.4(SBF1):c.499G>A (p.Val167Met)
|
rs117163826
|
0.00002
|
NM_002972.4(SBF1):c.5043+5G>A
|
rs369692856
|
0.00002
|
NM_002972.4(SBF1):c.5107C>T (p.Arg1703Trp)
|
rs531466401
|
0.00002
|
NM_002972.4(SBF1):c.5137C>T (p.Arg1713Trp)
|
rs762047021
|
0.00002
|
NM_002972.4(SBF1):c.542G>C (p.Gly181Ala)
|
rs770926599
|
0.00002
|
NM_002972.4(SBF1):c.5542A>G (p.Met1848Val)
|
rs780599337
|
0.00002
|
NM_002972.4(SBF1):c.554C>T (p.Thr185Met)
|
rs551437073
|
0.00002
|
NM_002972.4(SBF1):c.5626G>A (p.Val1876Met)
|
rs557791373
|
0.00002
|
NM_002972.4(SBF1):c.608C>T (p.Ser203Leu)
|
rs970529797
|
0.00002
|
NM_002972.4(SBF1):c.887C>T (p.Thr296Ile)
|
rs757458120
|
0.00002
|
NM_002972.4(SBF1):c.934G>A (p.Val312Ile)
|
rs200960070
|
0.00002
|
NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala)
|
rs746439204
|
0.00001
|
NM_002972.4(SBF1):c.1070C>T (p.Thr357Ile)
|
rs546247142
|
0.00001
|
NM_002972.4(SBF1):c.1102C>T (p.Arg368Cys)
|
rs904052173
|
0.00001
|
NM_002972.4(SBF1):c.1105G>A (p.Ala369Thr)
|
rs1487450248
|
0.00001
|
NM_002972.4(SBF1):c.1162G>A (p.Val388Ile)
|
rs765101409
|
0.00001
|
NM_002972.4(SBF1):c.1165G>A (p.Val389Met)
|
rs2067698268
|
0.00001
|
NM_002972.4(SBF1):c.1168C>T (p.Arg390Cys)
|
rs1303975437
|
0.00001
|
NM_002972.4(SBF1):c.1193G>A (p.Arg398His)
|
rs771686648
|
0.00001
|
NM_002972.4(SBF1):c.1203+4G>C
|
rs747659001
|
0.00001
|
NM_002972.4(SBF1):c.1223G>A (p.Arg408His)
|
rs758592958
|
0.00001
|
NM_002972.4(SBF1):c.1330G>A (p.Glu444Lys)
|
rs1055574309
|
0.00001
|
NM_002972.4(SBF1):c.1359G>A (p.Met453Ile)
|
rs776387674
|
0.00001
|
NM_002972.4(SBF1):c.1496G>A (p.Arg499Gln)
|
rs369007269
|
0.00001
|
NM_002972.4(SBF1):c.1537G>A (p.Val513Met)
|
rs1391302083
|
0.00001
|
NM_002972.4(SBF1):c.1565C>T (p.Ala522Val)
|
rs868063263
|
0.00001
|
NM_002972.4(SBF1):c.1571T>G (p.Met524Arg)
|
rs753941615
|
0.00001
|
NM_002972.4(SBF1):c.1610C>G (p.Thr537Ser)
|
rs541309044
|
0.00001
|
NM_002972.4(SBF1):c.1715A>G (p.Tyr572Cys)
|
rs747142107
|
0.00001
|
NM_002972.4(SBF1):c.1804G>T (p.Ala602Ser)
|
rs966338815
|
0.00001
|
NM_002972.4(SBF1):c.1837C>T (p.Arg613Cys)
|
rs781568455
|
0.00001
|
NM_002972.4(SBF1):c.1876C>T (p.Arg626Cys)
|
rs765020097
|
0.00001
|
NM_002972.4(SBF1):c.1967G>A (p.Arg656Gln)
|
rs778794053
|
0.00001
|
NM_002972.4(SBF1):c.2112C>G (p.Asp704Glu)
|
rs759353918
|
0.00001
|
NM_002972.4(SBF1):c.2221A>G (p.Lys741Glu)
|
rs1322988702
|
0.00001
|
NM_002972.4(SBF1):c.2483G>A (p.Arg828His)
|
rs2067536565
|
0.00001
|
NM_002972.4(SBF1):c.2612G>A (p.Arg871Gln)
|
rs760922524
|
0.00001
|
NM_002972.4(SBF1):c.2620C>T (p.Arg874Trp)
|
rs1246195775
|
0.00001
|
NM_002972.4(SBF1):c.2630C>T (p.Pro877Leu)
|
rs528597678
|
0.00001
|
NM_002972.4(SBF1):c.2738C>T (p.Ala913Val)
|
rs374897003
|
0.00001
|
NM_002972.4(SBF1):c.2828C>T (p.Thr943Met)
|
rs987368963
|
0.00001
|
NM_002972.4(SBF1):c.2840-9T>C
|
rs1002729314
|
0.00001
|
NM_002972.4(SBF1):c.284C>T (p.Thr95Met)
|
rs765399551
|
0.00001
|
NM_002972.4(SBF1):c.2861G>A (p.Arg954His)
|
rs1478255913
|
0.00001
|
NM_002972.4(SBF1):c.2935G>T (p.Asp979Tyr)
|
rs1252953498
|
0.00001
|
NM_002972.4(SBF1):c.3008G>T (p.Ser1003Ile)
|
rs761035565
|
0.00001
|
NM_002972.4(SBF1):c.3023G>A (p.Arg1008His)
|
rs769275880
|
0.00001
|
NM_002972.4(SBF1):c.3034C>T (p.His1012Tyr)
|
rs1314884670
|
0.00001
|
NM_002972.4(SBF1):c.3050C>T (p.Pro1017Leu)
|
rs780146082
|
0.00001
|
NM_002972.4(SBF1):c.3068C>G (p.Thr1023Ser)
|
rs548786259
|
0.00001
|
NM_002972.4(SBF1):c.3113C>T (p.Pro1038Leu)
|
rs562437814
|
0.00001
|
NM_002972.4(SBF1):c.3158G>A (p.Arg1053Gln)
|
rs752184283
|
0.00001
|
NM_002972.4(SBF1):c.3254C>G (p.Pro1085Arg)
|
rs374067780
|
0.00001
|
NM_002972.4(SBF1):c.3283+6G>C
|
rs1298903371
|
0.00001
|
NM_002972.4(SBF1):c.3382C>T (p.Arg1128Cys)
|
rs747913842
|
0.00001
|
NM_002972.4(SBF1):c.3454A>G (p.Ile1152Val)
|
rs551440125
|
0.00001
|
NM_002972.4(SBF1):c.347T>A (p.Leu116Gln)
|
rs371457784
|
0.00001
|
NM_002972.4(SBF1):c.3572G>A (p.Arg1191His)
|
rs746155908
|
0.00001
|
NM_002972.4(SBF1):c.3656G>A (p.Gly1219Asp)
|
rs1164170194
|
0.00001
|
NM_002972.4(SBF1):c.3695C>G (p.Ser1232Cys)
|
rs1227235340
|
0.00001
|
NM_002972.4(SBF1):c.3782G>A (p.Arg1261His)
|
rs780313800
|
0.00001
|
NM_002972.4(SBF1):c.3796G>A (p.Gly1266Ser)
|
rs201774449
|
0.00001
|
NM_002972.4(SBF1):c.3890G>A (p.Arg1297Gln)
|
rs1471714869
|
0.00001
|
NM_002972.4(SBF1):c.3904+6G>A
|
rs749256198
|
0.00001
|
NM_002972.4(SBF1):c.3923G>A (p.Arg1308Gln)
|
rs778601233
|
0.00001
|
NM_002972.4(SBF1):c.3935G>A (p.Arg1312His)
|
rs1483863114
|
0.00001
|
NM_002972.4(SBF1):c.4051G>A (p.Ala1351Thr)
|
rs1048835538
|
0.00001
|
NM_002972.4(SBF1):c.4081C>T (p.Leu1361Phe)
|
rs970898613
|
0.00001
|
NM_002972.4(SBF1):c.4087G>A (p.Gly1363Ser)
|
rs1012773905
|
0.00001
|
NM_002972.4(SBF1):c.4160C>T (p.Ala1387Val)
|
rs774239461
|
0.00001
|
NM_002972.4(SBF1):c.4267-3C>T
|
rs1336015306
|
0.00001
|
NM_002972.4(SBF1):c.4342G>A (p.Glu1448Lys)
|
rs761636318
|
0.00001
|
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val)
|
rs1404020990
|
0.00001
|
NM_002972.4(SBF1):c.4465C>T (p.Arg1489Cys)
|
rs748910673
|
0.00001
|
NM_002972.4(SBF1):c.4498G>T (p.Gly1500Trp)
|
rs776035145
|
0.00001
|
NM_002972.4(SBF1):c.4513T>G (p.Phe1505Val)
|
rs1322288085
|
0.00001
|
NM_002972.4(SBF1):c.4522G>A (p.Val1508Ile)
|
rs371044439
|
0.00001
|
NM_002972.4(SBF1):c.4554+6C>T
|
rs369895606
|
0.00001
|
NM_002972.4(SBF1):c.4588A>G (p.Ser1530Gly)
|
rs776103483
|
0.00001
|
NM_002972.4(SBF1):c.4709G>A (p.Arg1570His)
|
rs747116103
|
0.00001
|
NM_002972.4(SBF1):c.47A>G (p.His16Arg)
|
rs2068120925
|
0.00001
|
NM_002972.4(SBF1):c.4801G>A (p.Glu1601Lys)
|
rs770245860
|
0.00001
|
NM_002972.4(SBF1):c.4931C>T (p.Pro1644Leu)
|
rs1481163594
|
0.00001
|
NM_002972.4(SBF1):c.5032C>T (p.Arg1678Cys)
|
rs779062604
|
0.00001
|
NM_002972.4(SBF1):c.5108G>A (p.Arg1703Gln)
|
rs367954544
|
0.00001
|
NM_002972.4(SBF1):c.5147G>A (p.Gly1716Asp)
|
rs2066923798
|
0.00001
|
NM_002972.4(SBF1):c.5171T>A (p.Leu1724His)
|
rs2066918652
|
0.00001
|
NM_002972.4(SBF1):c.5230G>A (p.Val1744Met)
|
rs774487981
|
0.00001
|
NM_002972.4(SBF1):c.52C>G (p.Arg18Gly)
|
rs1485408666
|
0.00001
|
NM_002972.4(SBF1):c.5420G>A (p.Arg1807His)
|
rs745958012
|
0.00001
|
NM_002972.4(SBF1):c.5464G>A (p.Asp1822Asn)
|
rs1052849995
|
0.00001
|
NM_002972.4(SBF1):c.5489A>G (p.Lys1830Arg)
|
rs749924188
|
0.00001
|
NM_002972.4(SBF1):c.5611T>C (p.Phe1871Leu)
|
rs764019726
|
0.00001
|
NM_002972.4(SBF1):c.688G>A (p.Ala230Thr)
|
rs1008742761
|
0.00001
|
NM_002972.4(SBF1):c.71A>G (p.Gln24Arg)
|
rs904638475
|
0.00001
|
NM_002972.4(SBF1):c.722G>A (p.Arg241Gln)
|
rs761849972
|
0.00001
|
NM_002972.4(SBF1):c.788+3G>T
|
rs1186208967
|
0.00001
|
NM_002972.4(SBF1):c.812C>T (p.Pro271Leu)
|
rs756050360
|
0.00001
|
NC_000022.10:g.(?_50885571)_(50897841_?)dup
|
|
|
NC_000022.10:g.(?_50885571)_(50900167_?)dup
|
|
|
NC_000022.10:g.(?_50885571)_(50913269_?)dup
|
|
|
NC_000022.10:g.(?_50900968)_(50913269_?)dup
|
|
|
NC_000022.10:g.(?_50904559)_(50913269_?)dup
|
|
|
NM_002972.4(SBF1):c.1023G>A (p.Pro341=)
|
|
|
NM_002972.4(SBF1):c.1031A>C (p.Glu344Ala)
|
rs368521040
|
|
NM_002972.4(SBF1):c.1031A>G (p.Glu344Gly)
|
rs368521040
|
|
NM_002972.4(SBF1):c.1031A>T (p.Glu344Val)
|
rs368521040
|
|
NM_002972.4(SBF1):c.1046C>T (p.Ala349Val)
|
rs2148600043
|
|
NM_002972.4(SBF1):c.1051C>G (p.Pro351Ala)
|
|
|
NM_002972.4(SBF1):c.1061C>T (p.Thr354Met)
|
rs749723222
|
|
NM_002972.4(SBF1):c.1089+4G>A
|
rs1439347452
|
|
NM_002972.4(SBF1):c.1096G>A (p.Glu366Lys)
|
rs1312019546
|
|
NM_002972.4(SBF1):c.1118G>A (p.Arg373Gln)
|
|
|
NM_002972.4(SBF1):c.1125C>A (p.Phe375Leu)
|
rs200307726
|
|
NM_002972.4(SBF1):c.1161C>G (p.His387Gln)
|
rs369261069
|
|
NM_002972.4(SBF1):c.116A>G (p.Asn39Ser)
|
|
|
NM_002972.4(SBF1):c.1177C>T (p.Pro393Ser)
|
rs2148598596
|
|
NM_002972.4(SBF1):c.119C>T (p.Pro40Leu)
|
rs2148607318
|
|
NM_002972.4(SBF1):c.1203+5G>A
|
rs2067696243
|
|
NM_002972.4(SBF1):c.1205C>G (p.Ala402Gly)
|
|
|
NM_002972.4(SBF1):c.1205C>T (p.Ala402Val)
|
|
|
NM_002972.4(SBF1):c.1207G>C (p.Ala403Pro)
|
rs2148598257
|
|
NM_002972.4(SBF1):c.1214T>G (p.Leu405Arg)
|
|
|
NM_002972.4(SBF1):c.1250T>C (p.Met417Thr)
|
rs1569513437
|
|
NM_002972.4(SBF1):c.127C>A (p.Gln43Lys)
|
rs752230843
|
|
NM_002972.4(SBF1):c.1285G>A (p.Val429Met)
|
|
|
NM_002972.4(SBF1):c.128A>G (p.Gln43Arg)
|
|
|
NM_002972.4(SBF1):c.1294C>T (p.Arg432Cys)
|
rs2148598075
|
|
NM_002972.4(SBF1):c.1317G>A (p.Thr439=)
|
rs1468707092
|
|
NM_002972.4(SBF1):c.1333-6C>G
|
rs781476014
|
|
NM_002972.4(SBF1):c.133A>G (p.Ile45Val)
|
|
|
NM_002972.4(SBF1):c.1360C>T (p.Arg454Trp)
|
|
|
NM_002972.4(SBF1):c.1361G>A (p.Arg454Gln)
|
rs377045434
|
|
NM_002972.4(SBF1):c.1384C>T (p.Arg462Cys)
|
|
|
NM_002972.4(SBF1):c.1393C>T (p.Arg465Cys)
|
|
|
NM_002972.4(SBF1):c.1394G>A (p.Arg465His)
|
|
|
NM_002972.4(SBF1):c.1403A>G (p.Gln468Arg)
|
rs961125816
|
|
NM_002972.4(SBF1):c.1431+12G>A
|
|
|
NM_002972.4(SBF1):c.1431+4C>A
|
|
|
NM_002972.4(SBF1):c.1431+5G>A
|
|
|
NM_002972.4(SBF1):c.1432-7C>G
|
rs373900344
|
|
NM_002972.4(SBF1):c.1439C>T (p.Pro480Leu)
|
|
|
NM_002972.4(SBF1):c.1450G>A (p.Val484Met)
|
|
|
NM_002972.4(SBF1):c.1450G>T (p.Val484Leu)
|
|
|
NM_002972.4(SBF1):c.1460A>G (p.His487Arg)
|
|
|
NM_002972.4(SBF1):c.1468C>G (p.Gln490Glu)
|
|
|
NM_002972.4(SBF1):c.1477G>A (p.Gly493Ser)
|
|
|
NM_002972.4(SBF1):c.14C>T (p.Ala5Val)
|
|
|
NM_002972.4(SBF1):c.1508G>C (p.Arg503Pro)
|
rs759909473
|
|
NM_002972.4(SBF1):c.1528G>A (p.Glu510Lys)
|
rs1556430354
|
|
NM_002972.4(SBF1):c.1564G>A (p.Ala522Thr)
|
rs750411731
|
|
NM_002972.4(SBF1):c.1573C>G (p.Gln525Glu)
|
|
|
NM_002972.4(SBF1):c.1574A>G (p.Gln525Arg)
|
|
|
NM_002972.4(SBF1):c.157G>A (p.Gly53Arg)
|
|
|
NM_002972.4(SBF1):c.1582C>T (p.Pro528Ser)
|
|
|
NM_002972.4(SBF1):c.1583C>G (p.Pro528Arg)
|
|
|
NM_002972.4(SBF1):c.1597G>T (p.Ala533Ser)
|
|
|
NM_002972.4(SBF1):c.1600G>A (p.Glu534Lys)
|
|
|
NM_002972.4(SBF1):c.1630C>T (p.Pro544Ser)
|
|
|
NM_002972.4(SBF1):c.1636+4C>G
|
rs564915156
|
|
NM_002972.4(SBF1):c.1636+4C>T
|
rs564915156
|
|
NM_002972.4(SBF1):c.1657A>G (p.Ser553Gly)
|
rs2067658253
|
|
NM_002972.4(SBF1):c.1661G>A (p.Gly554Glu)
|
|
|
NM_002972.4(SBF1):c.1669G>A (p.Val557Ile)
|
|
|
NM_002972.4(SBF1):c.1678G>A (p.Ala560Thr)
|
|
|
NM_002972.4(SBF1):c.1684C>T (p.Arg562Trp)
|
|
|
NM_002972.4(SBF1):c.1726G>A (p.Gly576Arg)
|
|
|
NM_002972.4(SBF1):c.1734G>C (p.Met578Ile)
|
rs757701114
|
|
NM_002972.4(SBF1):c.1734G>T (p.Met578Ile)
|
|
|
NM_002972.4(SBF1):c.175G>A (p.Glu59Lys)
|
|
|
NM_002972.4(SBF1):c.1796G>A (p.Arg599His)
|
|
|
NM_002972.4(SBF1):c.1804G>A (p.Ala602Thr)
|
rs966338815
|
|
NM_002972.4(SBF1):c.1813C>G (p.Leu605Val)
|
|
|
NM_002972.4(SBF1):c.184C>G (p.Pro62Ala)
|
|
|
NM_002972.4(SBF1):c.1856A>G (p.Gln619Arg)
|
|
|
NM_002972.4(SBF1):c.1877G>A (p.Arg626His)
|
|
|
NM_002972.4(SBF1):c.1899+3G>A
|
rs1044737001
|
|
NM_002972.4(SBF1):c.1900-14C>A
|
rs749098829
|
|
NM_002972.4(SBF1):c.1907C>T (p.Thr636Ile)
|
|
|
NM_002972.4(SBF1):c.1966C>T (p.Arg656Trp)
|
|
|
NM_002972.4(SBF1):c.1968G>A (p.Arg656=)
|
rs1603433117
|
|
NM_002972.4(SBF1):c.1978C>T (p.Pro660Ser)
|
|
|
NM_002972.4(SBF1):c.1982G>A (p.Gly661Glu)
|
rs1424367843
|
|
NM_002972.4(SBF1):c.1994T>A (p.Phe665Tyr)
|
rs2148591573
|
|
NM_002972.4(SBF1):c.2016_2017delinsAT (p.His673Tyr)
|
|
|
NM_002972.4(SBF1):c.2020G>A (p.Val674Met)
|
rs1276480774
|
|
NM_002972.4(SBF1):c.2023G>C (p.Val675Leu)
|
rs749529527
|
|
NM_002972.4(SBF1):c.2024T>C (p.Val675Ala)
|
|
|
NM_002972.4(SBF1):c.2036C>A (p.Pro679Gln)
|
|
|
NM_002972.4(SBF1):c.2083C>T (p.Arg695Trp)
|
|
|
NM_002972.4(SBF1):c.2088C>T (p.Ala696=)
|
|
|
NM_002972.4(SBF1):c.2101C>G (p.Pro701Ala)
|
|
|
NM_002972.4(SBF1):c.2116G>A (p.Ala706Thr)
|
rs770899422
|
|
NM_002972.4(SBF1):c.2127+5G>A
|
rs779542104
|
|
NM_002972.4(SBF1):c.2127+6C>T
|
rs954777193
|
|
NM_002972.4(SBF1):c.2165C>G (p.Ser722Cys)
|
|
|
NM_002972.4(SBF1):c.2191C>T (p.Arg731Trp)
|
|
|
NM_002972.4(SBF1):c.2192G>A (p.Arg731Gln)
|
|
|
NM_002972.4(SBF1):c.2210dup (p.Ser738fs)
|
rs2148590809
|
|
NM_002972.4(SBF1):c.2237T>C (p.Val746Ala)
|
|
|
NM_002972.4(SBF1):c.223T>G (p.Ser75Ala)
|
|
|
NM_002972.4(SBF1):c.2244G>C (p.Lys748Asn)
|
|
|
NM_002972.4(SBF1):c.226G>A (p.Glu76Lys)
|
|
|
NM_002972.4(SBF1):c.2281G>A (p.Ala761Thr)
|
|
|
NM_002972.4(SBF1):c.22T>G (p.Phe8Val)
|
|
|
NM_002972.4(SBF1):c.2312T>C (p.Leu771Pro)
|
|
|
NM_002972.4(SBF1):c.2317A>G (p.Ser773Gly)
|
rs1603432969
|
|
NM_002972.4(SBF1):c.2318G>A (p.Ser773Asn)
|
|
|
NM_002972.4(SBF1):c.2330G>A (p.Arg777His)
|
|
|
NM_002972.4(SBF1):c.2335C>T (p.Leu779Phe)
|
rs774932394
|
|
NM_002972.4(SBF1):c.233A>T (p.His78Leu)
|
|
|
NM_002972.4(SBF1):c.2361C>A (p.Asp787Glu)
|
|
|
NM_002972.4(SBF1):c.2398A>G (p.Met800Val)
|
|
|
NM_002972.4(SBF1):c.2438G>C (p.Gly813Ala)
|
|
|
NM_002972.4(SBF1):c.2447A>T (p.Asp816Val)
|
|
|
NM_002972.4(SBF1):c.2461G>A (p.Asp821Asn)
|
rs1569512384
|
|
NM_002972.4(SBF1):c.2486T>G (p.Phe829Cys)
|
|
|
NM_002972.4(SBF1):c.2488A>T (p.Ile830Phe)
|
|
|
NM_002972.4(SBF1):c.2494C>T (p.Arg832Cys)
|
|
|
NM_002972.4(SBF1):c.2525G>A (p.Gly842Glu)
|
|
|
NM_002972.4(SBF1):c.2555A>G (p.His852Arg)
|
rs780693875
|
|
NM_002972.4(SBF1):c.2569+5G>A
|
|
|
NM_002972.4(SBF1):c.258G>C (p.Trp86Cys)
|
rs1556436786
|
|
NM_002972.4(SBF1):c.2657G>A (p.Arg886Gln)
|
|
|
NM_002972.4(SBF1):c.2662C>A (p.Arg888Ser)
|
rs770341256
|
|
NM_002972.4(SBF1):c.2663G>A (p.Arg888His)
|
rs201519518
|
|
NM_002972.4(SBF1):c.2663G>T (p.Arg888Leu)
|
|
|
NM_002972.4(SBF1):c.266C>T (p.Ala89Val)
|
|
|
NM_002972.4(SBF1):c.2672C>T (p.Pro891Leu)
|
|
|
NM_002972.4(SBF1):c.2673G>A (p.Pro891=)
|
|
|
NM_002972.4(SBF1):c.2695G>A (p.Gly899Ser)
|
|
|
NM_002972.4(SBF1):c.2701C>T (p.Arg901Cys)
|
|
|
NM_002972.4(SBF1):c.2702G>A (p.Arg901His)
|
|
|
NM_002972.4(SBF1):c.2708A>G (p.Tyr903Cys)
|
|
|
NM_002972.4(SBF1):c.2726G>A (p.Arg909His)
|
|
|
NM_002972.4(SBF1):c.277C>T (p.Gln93Ter)
|
rs1556436706
|
|
NM_002972.4(SBF1):c.279+3C>T
|
|
|
NM_002972.4(SBF1):c.280-9C>A
|
rs762959504
|
|
NM_002972.4(SBF1):c.2827A>G (p.Thr943Ala)
|
rs2148588717
|
|
NM_002972.4(SBF1):c.2854G>A (p.Val952Met)
|
rs2148587875
|
|
NM_002972.4(SBF1):c.2860C>T (p.Arg954Cys)
|
|
|
NM_002972.4(SBF1):c.2869C>G (p.Pro957Ala)
|
|
|
NM_002972.4(SBF1):c.2870C>T (p.Pro957Leu)
|
|
|
NM_002972.4(SBF1):c.2879C>G (p.Ala960Gly)
|
|
|
NM_002972.4(SBF1):c.287C>G (p.Thr96Arg)
|
|
|
NM_002972.4(SBF1):c.2905G>A (p.Val969Ile)
|
|
|
NM_002972.4(SBF1):c.290G>T (p.Arg97Leu)
|
|
|
NM_002972.4(SBF1):c.2925G>C (p.Gln975His)
|
|
|
NM_002972.4(SBF1):c.2968C>A (p.Leu990Met)
|
|
|
NM_002972.4(SBF1):c.2994G>C (p.Glu998Asp)
|
rs2148586412
|
|
NM_002972.4(SBF1):c.3010G>A (p.Ala1004Thr)
|
|
|
NM_002972.4(SBF1):c.3013G>A (p.Glu1005Lys)
|
rs1306451918
|
|
NM_002972.4(SBF1):c.301G>T (p.Ala101Ser)
|
|
|
NM_002972.4(SBF1):c.3038A>G (p.Lys1013Arg)
|
|
|
NM_002972.4(SBF1):c.3055G>A (p.Asp1019Asn)
|
|
|
NM_002972.4(SBF1):c.3056A>C (p.Asp1019Ala)
|
|
|
NM_002972.4(SBF1):c.3068C>T (p.Thr1023Ile)
|
|
|
NM_002972.4(SBF1):c.3074C>T (p.Ala1025Val)
|
|
|
NM_002972.4(SBF1):c.3089C>T (p.Ser1030Phe)
|
rs2067464364
|
|
NM_002972.4(SBF1):c.3105C>T (p.Gly1035=)
|
|
|
NM_002972.4(SBF1):c.3106C>T (p.Arg1036Trp)
|
rs375210922
|
|
NM_002972.4(SBF1):c.3116G>A (p.Arg1039Gln)
|
|
|
NM_002972.4(SBF1):c.3169A>C (p.Lys1057Gln)
|
|
|
NM_002972.4(SBF1):c.3194G>A (p.Arg1065Gln)
|
|
|
NM_002972.4(SBF1):c.3208C>T (p.Arg1070Cys)
|
|
|
NM_002972.4(SBF1):c.3212A>G (p.Lys1071Arg)
|
rs2148585442
|
|
NM_002972.4(SBF1):c.3227C>G (p.Pro1076Arg)
|
rs756747334
|
|
NM_002972.4(SBF1):c.3266A>G (p.Gln1089Arg)
|
rs2067449286
|
|
NM_002972.4(SBF1):c.3281C>T (p.Ser1094Leu)
|
|
|
NM_002972.4(SBF1):c.3283+5A>G
|
rs2067448784
|
|
NM_002972.4(SBF1):c.3283+5del
|
|
|
NM_002972.4(SBF1):c.3290A>G (p.Glu1097Gly)
|
rs2148584851
|
|
NM_002972.4(SBF1):c.3301C>A (p.Pro1101Thr)
|
|
|
NM_002972.4(SBF1):c.3301C>G (p.Pro1101Ala)
|
|
|
NM_002972.4(SBF1):c.3302C>G (p.Pro1101Arg)
|
|
|
NM_002972.4(SBF1):c.3317C>T (p.Pro1106Leu)
|
|
|
NM_002972.4(SBF1):c.3320C>T (p.Ser1107Phe)
|
|
|
NM_002972.4(SBF1):c.3335C>T (p.Pro1112Leu)
|
|
|
NM_002972.4(SBF1):c.3344G>A (p.Arg1115His)
|
|
|
NM_002972.4(SBF1):c.3346A>G (p.Met1116Val)
|
|
|
NM_002972.4(SBF1):c.3353T>C (p.Met1118Thr)
|
|
|
NM_002972.4(SBF1):c.3359G>C (p.Ser1120Thr)
|
|
|
NM_002972.4(SBF1):c.335G>A (p.Gly112Asp)
|
|
|
NM_002972.4(SBF1):c.335G>T (p.Gly112Val)
|
rs2148605187
|
|
NM_002972.4(SBF1):c.3374C>A (p.Ala1125Asp)
|
rs371384320
|
|
NM_002972.4(SBF1):c.3397C>G (p.Leu1133Val)
|
rs753172401
|
|
NM_002972.4(SBF1):c.3397C>T (p.Leu1133Phe)
|
rs753172401
|
|
NM_002972.4(SBF1):c.3430C>T (p.Arg1144Trp)
|
|
|
NM_002972.4(SBF1):c.3437A>C (p.Lys1146Thr)
|
|
|
NM_002972.4(SBF1):c.3443A>G (p.Glu1148Gly)
|
|
|
NM_002972.4(SBF1):c.352C>T (p.Pro118Ser)
|
|
|
NM_002972.4(SBF1):c.3553C>T (p.Arg1185Cys)
|
|
|
NM_002972.4(SBF1):c.3562C>T (p.Arg1188Cys)
|
|
|
NM_002972.4(SBF1):c.3602G>A (p.Arg1201Gln)
|
|
|
NM_002972.4(SBF1):c.3623G>A (p.Arg1208His)
|
|
|
NM_002972.4(SBF1):c.3646G>C (p.Gly1216Arg)
|
|
|
NM_002972.4(SBF1):c.3655G>A (p.Gly1219Ser)
|
rs1486209438
|
|
NM_002972.4(SBF1):c.3701C>T (p.Ala1234Val)
|
|
|
NM_002972.4(SBF1):c.3710G>A (p.Ser1237Asn)
|
|
|
NM_002972.4(SBF1):c.3712A>G (p.Ser1238Gly)
|
|
|
NM_002972.4(SBF1):c.3722A>C (p.Gln1241Pro)
|
rs2148582674
|
|
NM_002972.4(SBF1):c.3724_3726del (p.Glu1242del)
|
|
|
NM_002972.4(SBF1):c.3761G>A (p.Arg1254His)
|
|
|
NM_002972.4(SBF1):c.3767C>T (p.Ala1256Val)
|
rs777013142
|
|
NM_002972.4(SBF1):c.3769G>A (p.Asp1257Asn)
|
|
|
NM_002972.4(SBF1):c.3781C>T (p.Arg1261Cys)
|
|
|
NM_002972.4(SBF1):c.3788C>T (p.Thr1263Met)
|
|
|
NM_002972.4(SBF1):c.3801CTC[1] (p.Ser1269del)
|
rs779278293
|
|
NM_002972.4(SBF1):c.3806C>T (p.Ser1269Leu)
|
|
|
NM_002972.4(SBF1):c.3814A>G (p.Met1272Val)
|
|
|
NM_002972.4(SBF1):c.3820A>G (p.Ser1274Gly)
|
|
|
NM_002972.4(SBF1):c.3825C>T (p.His1275=)
|
|
|
NM_002972.4(SBF1):c.3826G>A (p.Val1276Ile)
|
|
|
NM_002972.4(SBF1):c.3851C>T (p.Thr1284Ile)
|
|
|
NM_002972.4(SBF1):c.3860C>G (p.Ser1287Cys)
|
|
|
NM_002972.4(SBF1):c.386C>T (p.Ala129Val)
|
|
|
NM_002972.4(SBF1):c.3872C>T (p.Ala1291Val)
|
|
|
NM_002972.4(SBF1):c.3873GGCCTC[3] (p.1292AS[3])
|
rs761546537
|
|
NM_002972.4(SBF1):c.3889C>T (p.Arg1297Trp)
|
|
|
NM_002972.4(SBF1):c.38T>G (p.Phe13Cys)
|
|
|
NM_002972.4(SBF1):c.3907A>C (p.Lys1303Gln)
|
rs1556421352
|
|
NM_002972.4(SBF1):c.3919G>A (p.Val1307Ile)
|
|
|
NM_002972.4(SBF1):c.3931G>A (p.Gly1311Arg)
|
|
|
NM_002972.4(SBF1):c.3936CAG[1] (p.Ser1314del)
|
|
|
NM_002972.4(SBF1):c.3946C>A (p.Leu1316Ile)
|
|
|
NM_002972.4(SBF1):c.3956A>T (p.Asp1319Val)
|
|
|
NM_002972.4(SBF1):c.3967C>T (p.Arg1323Trp)
|
|
|
NM_002972.4(SBF1):c.3977G>A (p.Gly1326Asp)
|
rs1280133443
|
|
NM_002972.4(SBF1):c.4009G>A (p.Gly1337Arg)
|
|
|
NM_002972.4(SBF1):c.4018C>T (p.Pro1340Ser)
|
|
|
NM_002972.4(SBF1):c.4025C>T (p.Pro1342Leu)
|
|
|
NM_002972.4(SBF1):c.4027G>C (p.Gly1343Arg)
|
|
|
NM_002972.4(SBF1):c.4039_4040delinsAA (p.Pro1347Lys)
|
|
|
NM_002972.4(SBF1):c.4040C>T (p.Pro1347Leu)
|
rs750323488
|
|
NM_002972.4(SBF1):c.4140C>G (p.Phe1380Leu)
|
|
|
NM_002972.4(SBF1):c.4192C>T (p.Pro1398Ser)
|
|
|
NM_002972.4(SBF1):c.4196G>C (p.Gly1399Ala)
|
|
|
NM_002972.4(SBF1):c.4204G>C (p.Ala1402Pro)
|
rs374287730
|
|
NM_002972.4(SBF1):c.4216A>G (p.Ser1406Gly)
|
|
|
NM_002972.4(SBF1):c.4222G>C (p.Ala1408Pro)
|
|
|
NM_002972.4(SBF1):c.4223C>T (p.Ala1408Val)
|
rs2067241821
|
|
NM_002972.4(SBF1):c.4240C>G (p.Leu1414Val)
|
rs182138894
|
|
NM_002972.4(SBF1):c.424A>G (p.Thr142Ala)
|
|
|
NM_002972.4(SBF1):c.4266+3C>T
|
|
|
NM_002972.4(SBF1):c.4288T>G (p.Ser1430Ala)
|
|
|
NM_002972.4(SBF1):c.4312G>A (p.Asp1438Asn)
|
|
|
NM_002972.4(SBF1):c.4327G>A (p.Val1443Met)
|
rs899218856
|
|
NM_002972.4(SBF1):c.4360ACC[1] (p.Thr1455del)
|
rs2148571091
|
|
NM_002972.4(SBF1):c.4369-11G>A
|
rs199878169
|
|
NM_002972.4(SBF1):c.4369-3C>T
|
rs1219551945
|
|
NM_002972.4(SBF1):c.4373T>C (p.Val1458Ala)
|
|
|
NM_002972.4(SBF1):c.4399C>G (p.Pro1467Ala)
|
|
|
NM_002972.4(SBF1):c.4403T>C (p.Phe1468Ser)
|
rs2148570794
|
|
NM_002972.4(SBF1):c.4410C>T (p.Arg1470=)
|
rs755883207
|
|
NM_002972.4(SBF1):c.4442A>G (p.Lys1481Arg)
|
|
|
NM_002972.4(SBF1):c.4454C>T (p.Ser1485Phe)
|
|
|
NM_002972.4(SBF1):c.4462C>T (p.His1488Tyr)
|
rs1569510303
|
|
NM_002972.4(SBF1):c.4477C>T (p.Arg1493Cys)
|
|
|
NM_002972.4(SBF1):c.4478G>A (p.Arg1493His)
|
|
|
NM_002972.4(SBF1):c.4486C>G (p.His1496Asp)
|
|
|
NM_002972.4(SBF1):c.4490C>T (p.Thr1497Ile)
|
rs1241002384
|
|
NM_002972.4(SBF1):c.4499G>A (p.Gly1500Glu)
|
|
|
NM_002972.4(SBF1):c.4525T>C (p.Phe1509Leu)
|
|
|
NM_002972.4(SBF1):c.4528C>A (p.Leu1510Met)
|
|
|
NM_002972.4(SBF1):c.4554+6_4554+9delinsTGTA
|
rs2148570334
|
|
NM_002972.4(SBF1):c.4570C>T (p.Pro1524Ser)
|
|
|
NM_002972.4(SBF1):c.4592A>C (p.Gln1531Pro)
|
rs1019524339
|
|
NM_002972.4(SBF1):c.4612G>T (p.Gly1538Cys)
|
|
|
NM_002972.4(SBF1):c.4623T>G (p.His1541Gln)
|
|
|
NM_002972.4(SBF1):c.4693GAG[1] (p.Glu1566del)
|
rs756687778
|
|
NM_002972.4(SBF1):c.4697A>G (p.Glu1566Gly)
|
rs531165508
|
|
NM_002972.4(SBF1):c.4702G>A (p.Gly1568Arg)
|
rs1413480607
|
|
NM_002972.4(SBF1):c.4703G>A (p.Gly1568Glu)
|
rs1239035259
|
|
NM_002972.4(SBF1):c.4715G>A (p.Gly1572Asp)
|
|
|
NM_002972.4(SBF1):c.4731G>T (p.Arg1577Ser)
|
|
|
NM_002972.4(SBF1):c.4733C>G (p.Ser1578Cys)
|
|
|
NM_002972.4(SBF1):c.4735G>C (p.Val1579Leu)
|
rs1349773838
|
|
NM_002972.4(SBF1):c.4774G>A (p.Val1592Met)
|
|
|
NM_002972.4(SBF1):c.4782C>G (p.His1594Gln)
|
|
|
NM_002972.4(SBF1):c.4784A>G (p.Asn1595Ser)
|
|
|
NM_002972.4(SBF1):c.4796C>T (p.Ala1599Val)
|
|
|
NM_002972.4(SBF1):c.4819C>T (p.Arg1607Trp)
|
|
|
NM_002972.4(SBF1):c.483T>A (p.Asn161Lys)
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rs377425965
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NM_002972.4(SBF1):c.4857C>G (p.Asp1619Glu)
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NM_002972.4(SBF1):c.4864A>G (p.Thr1622Ala)
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NM_002972.4(SBF1):c.4874C>T (p.Thr1625Met)
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rs756843805
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NM_002972.4(SBF1):c.4926_4927insTCA (p.Glu1642_Pro1643insSer)
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rs2067175454
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NM_002972.4(SBF1):c.4927C>T (p.Pro1643Ser)
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NM_002972.4(SBF1):c.4930C>T (p.Pro1644Ser)
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NM_002972.4(SBF1):c.4945T>C (p.Ser1649Pro)
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NM_002972.4(SBF1):c.4987C>T (p.Pro1663Ser)
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NM_002972.4(SBF1):c.4996G>T (p.Asp1666Tyr)
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NM_002972.4(SBF1):c.49C>T (p.Pro17Ser)
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NM_002972.4(SBF1):c.5005C>G (p.Pro1669Ala)
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rs2067171480
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NM_002972.4(SBF1):c.502A>G (p.Ile168Val)
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NM_002972.4(SBF1):c.5113A>C (p.Lys1705Gln)
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NM_002972.4(SBF1):c.5128_5130del (p.Leu1710del)
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NM_002972.4(SBF1):c.5134G>A (p.Gly1712Ser)
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NM_002972.4(SBF1):c.5149C>T (p.Arg1717Cys)
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NM_002972.4(SBF1):c.5150G>A (p.Arg1717His)
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NM_002972.4(SBF1):c.5152-13C>T
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rs1285966014
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NM_002972.4(SBF1):c.5165C>T (p.Ser1722Phe)
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NM_002972.4(SBF1):c.5176T>G (p.Ser1726Ala)
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NM_002972.4(SBF1):c.5180C>G (p.Thr1727Ser)
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rs773838625
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NM_002972.4(SBF1):c.5182G>T (p.Ala1728Ser)
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rs747746536
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NM_002972.4(SBF1):c.5185C>G (p.Pro1729Ala)
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NM_002972.4(SBF1):c.518C>T (p.Thr173Met)
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NM_002972.4(SBF1):c.5194C>T (p.Arg1732Cys)
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NM_002972.4(SBF1):c.5195G>A (p.Arg1732His)
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rs901723487
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NM_002972.4(SBF1):c.5201C>T (p.Ser1734Leu)
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NM_002972.4(SBF1):c.5202G>T (p.Ser1734=)
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NM_002972.4(SBF1):c.5212T>C (p.Tyr1738His)
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rs2148552488
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NM_002972.4(SBF1):c.5219A>C (p.Gln1740Pro)
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rs752849602
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NM_002972.4(SBF1):c.5223G>C (p.Glu1741Asp)
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rs2148552473
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NM_002972.4(SBF1):c.523A>G (p.Thr175Ala)
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NM_002972.4(SBF1):c.5248C>G (p.Leu1750Val)
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rs902782859
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NM_002972.4(SBF1):c.5248C>T (p.Leu1750Phe)
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NM_002972.4(SBF1):c.5263G>A (p.Asp1755Asn)
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rs1240252021
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NM_002972.4(SBF1):c.5296C>A (p.Arg1766Ser)
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NM_002972.4(SBF1):c.5297G>A (p.Arg1766His)
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NM_002972.4(SBF1):c.5300A>C (p.Gln1767Pro)
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rs2148552252
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NM_002972.4(SBF1):c.5302G>C (p.Ala1768Pro)
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NM_002972.4(SBF1):c.5308C>T (p.Arg1770Cys)
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NM_002972.4(SBF1):c.5311C>G (p.Arg1771Gly)
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NM_002972.4(SBF1):c.5311C>T (p.Arg1771Cys)
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rs138127298
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NM_002972.4(SBF1):c.5314A>C (p.Ser1772Arg)
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NM_002972.4(SBF1):c.5382_5383del (p.Tyr1795fs)
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rs1603430221
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NM_002972.4(SBF1):c.5394_5395del (p.Ala1799fs)
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rs1234122324
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NM_002972.4(SBF1):c.5402T>C (p.Met1801Thr)
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NM_002972.4(SBF1):c.5407C>T (p.Pro1803Ser)
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rs2148550076
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NM_002972.4(SBF1):c.5408C>T (p.Pro1803Leu)
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rs1209665714
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NM_002972.4(SBF1):c.5410T>C (p.Trp1804Arg)
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rs2148550066
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NM_002972.4(SBF1):c.5411G>C (p.Trp1804Ser)
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rs1556416216
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NM_002972.4(SBF1):c.5434G>C (p.Asp1812His)
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rs1057519116
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NM_002972.4(SBF1):c.5470C>T (p.Arg1824Cys)
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rs547807779
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NM_002972.4(SBF1):c.5479A>G (p.Thr1827Ala)
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NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly)
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rs373534319
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NM_002972.4(SBF1):c.5507C>T (p.Ala1836Val)
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rs373534319
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NM_002972.4(SBF1):c.5524G>A (p.Ala1842Thr)
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rs2148549362
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NM_002972.4(SBF1):c.5525C>T (p.Ala1842Val)
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rs1340978294
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NM_002972.4(SBF1):c.5532del (p.Thr1845fs)
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NM_002972.4(SBF1):c.5546G>C (p.Gly1849Ala)
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NM_002972.4(SBF1):c.556A>G (p.Ile186Val)
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rs2148602570
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NM_002972.4(SBF1):c.5575_5576delinsGC (p.Phe1859Ala)
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NM_002972.4(SBF1):c.5593del (p.Thr1865fs)
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rs2148548824
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NM_002972.4(SBF1):c.5596C>A (p.Arg1866Ser)
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NM_002972.4(SBF1):c.5596C>T (p.Arg1866Cys)
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NM_002972.4(SBF1):c.5627T>C (p.Val1876Ala)
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NM_002972.4(SBF1):c.5629C>T (p.Pro1877Ser)
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NM_002972.4(SBF1):c.5653C>T (p.Arg1885Trp)
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NM_002972.4(SBF1):c.5654G>A (p.Arg1885Gln)
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NM_002972.4(SBF1):c.565G>T (p.Gly189Trp)
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rs2067774465
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NM_002972.4(SBF1):c.5664_5673del (p.Ser1888fs)
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NM_002972.4(SBF1):c.610C>G (p.Leu204Val)
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NM_002972.4(SBF1):c.616G>A (p.Val206Ile)
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NM_002972.4(SBF1):c.622C>A (p.Arg208Ser)
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rs777596406
|
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NM_002972.4(SBF1):c.622C>G (p.Arg208Gly)
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rs777596406
|
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NM_002972.4(SBF1):c.622C>T (p.Arg208Cys)
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NM_002972.4(SBF1):c.654A>G (p.Leu218=)
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NM_002972.4(SBF1):c.655+6C>T
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rs2148602293
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NM_002972.4(SBF1):c.656-5T>A
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NM_002972.4(SBF1):c.667G>T (p.Val223Leu)
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NM_002972.4(SBF1):c.731A>G (p.Gln244Arg)
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NM_002972.4(SBF1):c.738C>T (p.Leu246=)
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rs374299843
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NM_002972.4(SBF1):c.76C>G (p.Gln26Glu)
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rs376814960
|
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NM_002972.4(SBF1):c.801_803dup (p.Pro268_Ile269insPro)
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NM_002972.4(SBF1):c.835A>G (p.Ser279Gly)
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rs1229221944
|
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NM_002972.4(SBF1):c.897+1G>A
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rs374026247
|
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NM_002972.4(SBF1):c.919C>A (p.Leu307Met)
|
rs564047488
|
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NM_002972.4(SBF1):c.932C>T (p.Thr311Met)
|
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NM_002972.4(SBF1):c.947A>G (p.Glu316Gly)
|
rs1366206765
|
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NM_002972.4(SBF1):c.965C>A (p.Pro322His)
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NM_002972.4(SBF1):c.971C>T (p.Pro324Leu)
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rs2067736695
|
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NM_002972.4(SBF1):c.980T>C (p.Leu327Pro)
|
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