ClinVar Miner

List of variants in gene SBF1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 650
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HGVS dbSNP gnomAD frequency
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) rs377425965
NM_002972.4(SBF1):c.4857C>G (p.Asp1619Glu)
NM_002972.4(SBF1):c.4864A>G (p.Thr1622Ala)
NM_002972.4(SBF1):c.4874C>T (p.Thr1625Met) rs756843805
NM_002972.4(SBF1):c.4926_4927insTCA (p.Glu1642_Pro1643insSer) rs2067175454
NM_002972.4(SBF1):c.4927C>T (p.Pro1643Ser)
NM_002972.4(SBF1):c.4930C>T (p.Pro1644Ser)
NM_002972.4(SBF1):c.4945T>C (p.Ser1649Pro)
NM_002972.4(SBF1):c.4987C>T (p.Pro1663Ser)
NM_002972.4(SBF1):c.4996G>T (p.Asp1666Tyr)
NM_002972.4(SBF1):c.49C>T (p.Pro17Ser)
NM_002972.4(SBF1):c.5005C>G (p.Pro1669Ala) rs2067171480
NM_002972.4(SBF1):c.502A>G (p.Ile168Val)
NM_002972.4(SBF1):c.5113A>C (p.Lys1705Gln)
NM_002972.4(SBF1):c.5128_5130del (p.Leu1710del)
NM_002972.4(SBF1):c.5134G>A (p.Gly1712Ser)
NM_002972.4(SBF1):c.5149C>T (p.Arg1717Cys)
NM_002972.4(SBF1):c.5150G>A (p.Arg1717His)
NM_002972.4(SBF1):c.5152-13C>T rs1285966014
NM_002972.4(SBF1):c.5165C>T (p.Ser1722Phe)
NM_002972.4(SBF1):c.5176T>G (p.Ser1726Ala)
NM_002972.4(SBF1):c.5180C>G (p.Thr1727Ser) rs773838625
NM_002972.4(SBF1):c.5182G>T (p.Ala1728Ser) rs747746536
NM_002972.4(SBF1):c.5185C>G (p.Pro1729Ala)
NM_002972.4(SBF1):c.518C>T (p.Thr173Met)
NM_002972.4(SBF1):c.5194C>T (p.Arg1732Cys)
NM_002972.4(SBF1):c.5195G>A (p.Arg1732His) rs901723487
NM_002972.4(SBF1):c.5201C>T (p.Ser1734Leu)
NM_002972.4(SBF1):c.5202G>T (p.Ser1734=)
NM_002972.4(SBF1):c.5212T>C (p.Tyr1738His) rs2148552488
NM_002972.4(SBF1):c.5219A>C (p.Gln1740Pro) rs752849602
NM_002972.4(SBF1):c.5223G>C (p.Glu1741Asp) rs2148552473
NM_002972.4(SBF1):c.523A>G (p.Thr175Ala)
NM_002972.4(SBF1):c.5248C>G (p.Leu1750Val) rs902782859
NM_002972.4(SBF1):c.5248C>T (p.Leu1750Phe)
NM_002972.4(SBF1):c.5263G>A (p.Asp1755Asn) rs1240252021
NM_002972.4(SBF1):c.5296C>A (p.Arg1766Ser)
NM_002972.4(SBF1):c.5297G>A (p.Arg1766His)
NM_002972.4(SBF1):c.5300A>C (p.Gln1767Pro) rs2148552252
NM_002972.4(SBF1):c.5302G>C (p.Ala1768Pro)
NM_002972.4(SBF1):c.5308C>T (p.Arg1770Cys)
NM_002972.4(SBF1):c.5311C>G (p.Arg1771Gly)
NM_002972.4(SBF1):c.5311C>T (p.Arg1771Cys) rs138127298
NM_002972.4(SBF1):c.5314A>C (p.Ser1772Arg)
NM_002972.4(SBF1):c.5382_5383del (p.Tyr1795fs) rs1603430221
NM_002972.4(SBF1):c.5394_5395del (p.Ala1799fs) rs1234122324
NM_002972.4(SBF1):c.5402T>C (p.Met1801Thr)
NM_002972.4(SBF1):c.5407C>T (p.Pro1803Ser) rs2148550076
NM_002972.4(SBF1):c.5408C>T (p.Pro1803Leu) rs1209665714
NM_002972.4(SBF1):c.5410T>C (p.Trp1804Arg) rs2148550066
NM_002972.4(SBF1):c.5411G>C (p.Trp1804Ser) rs1556416216
NM_002972.4(SBF1):c.5434G>C (p.Asp1812His) rs1057519116
NM_002972.4(SBF1):c.5470C>T (p.Arg1824Cys) rs547807779
NM_002972.4(SBF1):c.5479A>G (p.Thr1827Ala)
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly) rs373534319
NM_002972.4(SBF1):c.5507C>T (p.Ala1836Val) rs373534319
NM_002972.4(SBF1):c.5524G>A (p.Ala1842Thr) rs2148549362
NM_002972.4(SBF1):c.5525C>T (p.Ala1842Val) rs1340978294
NM_002972.4(SBF1):c.5532del (p.Thr1845fs)
NM_002972.4(SBF1):c.5546G>C (p.Gly1849Ala)
NM_002972.4(SBF1):c.556A>G (p.Ile186Val) rs2148602570
NM_002972.4(SBF1):c.5575_5576delinsGC (p.Phe1859Ala)
NM_002972.4(SBF1):c.5593del (p.Thr1865fs) rs2148548824
NM_002972.4(SBF1):c.5596C>A (p.Arg1866Ser)
NM_002972.4(SBF1):c.5596C>T (p.Arg1866Cys)
NM_002972.4(SBF1):c.5627T>C (p.Val1876Ala)
NM_002972.4(SBF1):c.5629C>T (p.Pro1877Ser)
NM_002972.4(SBF1):c.5653C>T (p.Arg1885Trp)
NM_002972.4(SBF1):c.5654G>A (p.Arg1885Gln)
NM_002972.4(SBF1):c.565G>T (p.Gly189Trp) rs2067774465
NM_002972.4(SBF1):c.5664_5673del (p.Ser1888fs)
NM_002972.4(SBF1):c.610C>G (p.Leu204Val)
NM_002972.4(SBF1):c.616G>A (p.Val206Ile)
NM_002972.4(SBF1):c.622C>A (p.Arg208Ser) rs777596406
NM_002972.4(SBF1):c.622C>G (p.Arg208Gly) rs777596406
NM_002972.4(SBF1):c.622C>T (p.Arg208Cys)
NM_002972.4(SBF1):c.654A>G (p.Leu218=)
NM_002972.4(SBF1):c.655+6C>T rs2148602293
NM_002972.4(SBF1):c.656-5T>A
NM_002972.4(SBF1):c.667G>T (p.Val223Leu)
NM_002972.4(SBF1):c.731A>G (p.Gln244Arg)
NM_002972.4(SBF1):c.738C>T (p.Leu246=) rs374299843
NM_002972.4(SBF1):c.76C>G (p.Gln26Glu) rs376814960
NM_002972.4(SBF1):c.801_803dup (p.Pro268_Ile269insPro)
NM_002972.4(SBF1):c.835A>G (p.Ser279Gly) rs1229221944
NM_002972.4(SBF1):c.897+1G>A rs374026247
NM_002972.4(SBF1):c.919C>A (p.Leu307Met) rs564047488
NM_002972.4(SBF1):c.932C>T (p.Thr311Met)
NM_002972.4(SBF1):c.947A>G (p.Glu316Gly) rs1366206765
NM_002972.4(SBF1):c.965C>A (p.Pro322His)
NM_002972.4(SBF1):c.971C>T (p.Pro324Leu) rs2067736695
NM_002972.4(SBF1):c.980T>C (p.Leu327Pro)

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