ClinVar Miner

List of variants in gene SBF2 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 741
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.*1364C>T rs10118 0.63186
NM_030962.4(SBF2):c.4156-46C>T rs11042500 0.43551
NM_030962.4(SBF2):c.*514C>T rs3829252 0.33836
NM_030962.4(SBF2):c.*1515G>A rs1045634 0.33744
NM_030962.4(SBF2):c.*40A>C rs3751000 0.30738
NM_030962.4(SBF2):c.753-16T>A rs7128234 0.18140
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508 0.07978
NM_030962.4(SBF2):c.*1619A>C rs360126 0.06256
NM_030962.4(SBF2):c.909C>T (p.Pro303=) rs16907355 0.05858
NM_030962.4(SBF2):c.*1144A>G rs3751001 0.04377
NM_030962.4(SBF2):c.3794-20C>T rs116966215 0.02037
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_030962.4(SBF2):c.*1399T>C rs60154961 0.01504
NM_030962.4(SBF2):c.*1413A>G rs59613534 0.01502
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.01066
NM_030962.4(SBF2):c.*177A>C rs192542785 0.00872
NM_030962.4(SBF2):c.*291C>T rs114604750 0.00828
NM_030962.4(SBF2):c.*51T>C rs41275194 0.00749
NM_030962.4(SBF2):c.*1315A>C rs360125 0.00723
NM_030962.4(SBF2):c.1173A>G (p.Ala391=) rs79470805 0.00687
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577 0.00548
NM_030962.4(SBF2):c.-118G>T rs563422015 0.00491
NM_030962.4(SBF2):c.645T>C (p.Phe215=) rs148187321 0.00491
NM_030962.4(SBF2):c.*112G>A rs144513995 0.00201
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_030962.4(SBF2):c.4111G>C (p.Val1371Leu) rs149501654 0.00074
NM_030962.4(SBF2):c.3969G>A (p.Ser1323=) rs77833016 0.00067
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg) rs199894823 0.00059
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr) rs149967939 0.00052
NM_030962.4(SBF2):c.*875G>A rs886048776 0.00046
NM_030962.4(SBF2):c.4054A>G (p.Ser1352Gly) rs201951073 0.00046
NM_030962.4(SBF2):c.*631T>C rs573284772 0.00043
NM_030962.4(SBF2):c.*1439C>A rs531522907 0.00042
NM_030962.4(SBF2):c.*1441C>T rs562275980 0.00042
NM_030962.4(SBF2):c.4444-18T>G rs143439179 0.00041
NM_030962.4(SBF2):c.291G>A (p.Lys97=) rs150056369 0.00039
NM_030962.4(SBF2):c.705T>C (p.Ser235=) rs143209062 0.00033
NM_030962.4(SBF2):c.1509A>G (p.Glu503=) rs143773975 0.00030
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=) rs145351367 0.00030
NM_030962.4(SBF2):c.*480G>A rs148002177 0.00029
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys) rs139217120 0.00029
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330 0.00029
NM_030962.4(SBF2):c.*963C>T rs144512459 0.00028
NM_030962.4(SBF2):c.1623G>A (p.Thr541=) rs184849947 0.00028
NM_030962.4(SBF2):c.513+18A>T rs201201683 0.00027
NM_030962.4(SBF2):c.4515G>A (p.Val1505=) rs144935862 0.00025
NM_030962.4(SBF2):c.56-8A>C rs369979138 0.00021
NM_030962.4(SBF2):c.3652+18A>C rs569103394 0.00020
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_030962.4(SBF2):c.651A>G (p.Ala217=) rs200293270 0.00019
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=) rs147597665 0.00016
NM_030962.4(SBF2):c.514-12C>T rs770141264 0.00016
NM_030962.4(SBF2):c.-128C>T rs886047579 0.00015
NM_030962.4(SBF2):c.1812C>T (p.Asp604=) rs765658939 0.00015
NM_030962.4(SBF2):c.*608G>C rs776490076 0.00014
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004 0.00014
NM_030962.4(SBF2):c.*1091G>A rs182391972 0.00013
NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp) rs146366305 0.00012
NM_030962.4(SBF2):c.4095C>T (p.Ile1365=) rs142904756 0.00011
NM_030962.4(SBF2):c.*78G>C rs184117822 0.00009
NM_030962.4(SBF2):c.1296+13T>C rs376685939 0.00009
NM_030962.4(SBF2):c.280-5T>C rs368118378 0.00009
NM_030962.4(SBF2):c.4076C>T (p.Ala1359Val) rs368839717 0.00009
NM_030962.4(SBF2):c.5484C>T (p.Cys1828=) rs149571145 0.00009
NM_030962.4(SBF2):c.5526C>A (p.Ile1842=) rs376788960 0.00009
NM_030962.4(SBF2):c.4512T>C (p.Tyr1504=) rs772156530 0.00008
NM_030962.4(SBF2):c.774C>A (p.Leu258=) rs887509504 0.00008
NM_030962.4(SBF2):c.783G>T (p.Gln261His) rs759932929 0.00008
NM_030962.4(SBF2):c.946C>T (p.Leu316=) rs374841593 0.00008
NM_030962.4(SBF2):c.1436G>A (p.Arg479Gln) rs775059182 0.00007
NM_030962.4(SBF2):c.1499G>A (p.Arg500Gln) rs759084094 0.00007
NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala) rs761285334 0.00007
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523 0.00007
NM_030962.4(SBF2):c.4257+6C>G rs370274486 0.00007
NM_030962.4(SBF2):c.*1495T>C rs929359339 0.00006
NM_030962.4(SBF2):c.*305A>G rs905556733 0.00006
NM_030962.4(SBF2):c.3617T>C (p.Val1206Ala) rs766573319 0.00006
NM_030962.4(SBF2):c.3812G>A (p.Arg1271His) rs201249004 0.00006
NM_030962.4(SBF2):c.3877A>G (p.Lys1293Glu) rs200594508 0.00006
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala) rs147350002 0.00006
NM_030962.4(SBF2):c.5469T>C (p.Arg1823=) rs373457270 0.00006
NM_030962.4(SBF2):c.1210C>T (p.Leu404Phe) rs764058215 0.00005
NM_030962.4(SBF2):c.3758C>T (p.Thr1253Ile) rs368392902 0.00005
NM_030962.4(SBF2):c.4039C>T (p.Arg1347Trp) rs750938785 0.00005
NM_030962.4(SBF2):c.4263A>G (p.Thr1421=) rs368381654 0.00005
NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe) rs148988271 0.00005
NM_030962.4(SBF2):c.1015C>G (p.Pro339Ala) rs1360970766 0.00004
NM_030962.4(SBF2):c.1067G>A (p.Arg356Gln) rs188588431 0.00004
NM_030962.4(SBF2):c.129G>A (p.Gln43=) rs761285505 0.00004
NM_030962.4(SBF2):c.136G>C (p.Glu46Gln) rs878855130 0.00004
NM_030962.4(SBF2):c.1396-6T>C rs369973804 0.00004
NM_030962.4(SBF2):c.1559G>A (p.Arg520Gln) rs546485749 0.00004
NM_030962.4(SBF2):c.1569G>A (p.Lys523=) rs776951161 0.00004
NM_030962.4(SBF2):c.1601-20T>C rs200518136 0.00004
NM_030962.4(SBF2):c.3582C>T (p.Leu1194=) rs201514622 0.00004
NM_030962.4(SBF2):c.3845C>T (p.Ser1282Phe) rs1442358051 0.00004
NM_030962.4(SBF2):c.3865C>T (p.Arg1289Trp) rs145107442 0.00004
NM_030962.4(SBF2):c.4038C>G (p.Ile1346Met) rs752638300 0.00004
NM_030962.4(SBF2):c.4101T>G (p.Thr1367=) rs766353139 0.00004
NM_030962.4(SBF2):c.4127C>T (p.Ala1376Val) rs922840746 0.00004
NM_030962.4(SBF2):c.4523G>A (p.Arg1508His) rs770619905 0.00004
NM_030962.4(SBF2):c.5493T>C (p.Asp1831=) rs779051883 0.00004
NM_030962.4(SBF2):c.798A>G (p.Leu266=) rs138122773 0.00004
NM_030962.4(SBF2):c.810G>A (p.Thr270=) rs769963369 0.00004
NM_030962.4(SBF2):c.1166A>G (p.Lys389Arg) rs1490002752 0.00003
NM_030962.4(SBF2):c.1383A>G (p.Gln461=) rs151036108 0.00003
NM_030962.4(SBF2):c.1573T>C (p.Cys525Arg) rs746860317 0.00003
NM_030962.4(SBF2):c.190A>G (p.Thr64Ala) rs374114606 0.00003
NM_030962.4(SBF2):c.257A>G (p.Tyr86Cys) rs745669920 0.00003
NM_030962.4(SBF2):c.258T>C (p.Tyr86=) rs778681306 0.00003
NM_030962.4(SBF2):c.3540G>C (p.Leu1180=) rs766137744 0.00003
NM_030962.4(SBF2):c.3708A>G (p.Gln1236=) rs1371647333 0.00003
NM_030962.4(SBF2):c.403-15T>G rs887143579 0.00003
NM_030962.4(SBF2):c.403-8T>C rs755029382 0.00003
NM_030962.4(SBF2):c.4107A>C (p.Ser1369=) rs769205402 0.00003
NM_030962.4(SBF2):c.566A>G (p.His189Arg) rs764000654 0.00003
NM_030962.4(SBF2):c.56G>T (p.Gly19Val) rs375560902 0.00003
NM_030962.4(SBF2):c.600T>C (p.Ala200=) rs770433606 0.00003
NM_030962.4(SBF2):c.832T>A (p.Ser278Thr) rs746749228 0.00003
NM_030962.4(SBF2):c.898A>G (p.Ile300Val) rs141669540 0.00003
NM_030962.4(SBF2):c.93T>C (p.Phe31=) rs200263159 0.00003
NM_030962.4(SBF2):c.984C>T (p.His328=) rs367717680 0.00003
NM_030962.4(SBF2):c.993G>A (p.Leu331=) rs766193938 0.00003
NM_030962.4(SBF2):c.1072G>A (p.Val358Ile) rs1372841015 0.00002
NM_030962.4(SBF2):c.1130T>C (p.Ile377Thr) rs371432409 0.00002
NM_030962.4(SBF2):c.1164C>T (p.His388=) rs959559753 0.00002
NM_030962.4(SBF2):c.1327G>C (p.Val443Leu) rs765958389 0.00002
NM_030962.4(SBF2):c.1368G>A (p.Arg456=) rs772525525 0.00002
NM_030962.4(SBF2):c.142-11A>G rs539146891 0.00002
NM_030962.4(SBF2):c.3533A>G (p.Asn1178Ser) rs1310790545 0.00002
NM_030962.4(SBF2):c.3536G>A (p.Arg1179His) rs751750978 0.00002
NM_030962.4(SBF2):c.3733C>T (p.His1245Tyr) rs753626252 0.00002
NM_030962.4(SBF2):c.3744C>G (p.Leu1248=) rs752703631 0.00002
NM_030962.4(SBF2):c.3818G>A (p.Ser1273Asn) rs774935915 0.00002
NM_030962.4(SBF2):c.3858T>C (p.Val1286=) rs768590614 0.00002
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln) rs768571931 0.00002
NM_030962.4(SBF2):c.3978+7T>C rs1416833371 0.00002
NM_030962.4(SBF2):c.402+15G>A rs780717348 0.00002
NM_030962.4(SBF2):c.409C>T (p.Leu137=) rs200954150 0.00002
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359 0.00002
NM_030962.4(SBF2):c.4570+18C>T rs754163697 0.00002
NM_030962.4(SBF2):c.5452-18T>C rs774923587 0.00002
NM_030962.4(SBF2):c.5468G>A (p.Arg1823His) rs369992460 0.00002
NM_030962.4(SBF2):c.5546C>T (p.Ala1849Val) rs1048725630 0.00002
NM_030962.4(SBF2):c.580A>C (p.Ile194Leu) rs746246566 0.00002
NM_030962.4(SBF2):c.*1255G>A rs886048774 0.00001
NM_030962.4(SBF2):c.*1405T>C rs997066238 0.00001
NM_030962.4(SBF2):c.*1686G>A rs376521838 0.00001
NM_030962.4(SBF2):c.*19G>A rs770446132 0.00001
NM_030962.4(SBF2):c.*418T>C rs985803879 0.00001
NM_030962.4(SBF2):c.*730G>A rs886048777 0.00001
NM_030962.4(SBF2):c.*731T>A rs1239478451 0.00001
NM_030962.4(SBF2):c.1024C>T (p.Arg342Ter) rs1565106242 0.00001
NM_030962.4(SBF2):c.1025G>A (p.Arg342Gln) rs954771068 0.00001
NM_030962.4(SBF2):c.1050G>A (p.Met350Ile) rs1947549366 0.00001
NM_030962.4(SBF2):c.1053+8G>A rs779888479 0.00001
NM_030962.4(SBF2):c.1061A>C (p.Glu354Ala) rs761829741 0.00001
NM_030962.4(SBF2):c.1062G>A (p.Glu354=) rs376956314 0.00001
NM_030962.4(SBF2):c.1066C>T (p.Arg356Ter) rs1032796987 0.00001
NM_030962.4(SBF2):c.1071C>T (p.Ala357=) rs775272908 0.00001
NM_030962.4(SBF2):c.1083A>G (p.Arg361=) rs1362168505 0.00001
NM_030962.4(SBF2):c.109G>C (p.Asp37His) rs759977048 0.00001
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg) rs770153492 0.00001
NM_030962.4(SBF2):c.1158T>G (p.His386Gln) rs780071398 0.00001
NM_030962.4(SBF2):c.1163A>G (p.His388Arg) rs1397329019 0.00001
NM_030962.4(SBF2):c.1167+20T>C rs1947507309 0.00001
NM_030962.4(SBF2):c.1168-10T>C rs769153339 0.00001
NM_030962.4(SBF2):c.118C>T (p.Pro40Ser) rs1194397200 0.00001
NM_030962.4(SBF2):c.1222C>T (p.Leu408Phe) rs1220835376 0.00001
NM_030962.4(SBF2):c.1226G>T (p.Ser409Ile) rs1183650459 0.00001
NM_030962.4(SBF2):c.1236A>G (p.Ala412=) rs1947481198 0.00001
NM_030962.4(SBF2):c.1244G>T (p.Gly415Val) rs996602317 0.00001
NM_030962.4(SBF2):c.1277C>A (p.Ser426Tyr) rs759009170 0.00001
NM_030962.4(SBF2):c.1296+12A>G rs762099135 0.00001
NM_030962.4(SBF2):c.1296+7C>T rs774033750 0.00001
NM_030962.4(SBF2):c.1297-13T>C rs777737213 0.00001
NM_030962.4(SBF2):c.1316A>T (p.Glu439Val) rs754505342 0.00001
NM_030962.4(SBF2):c.1337A>G (p.Asn446Ser) rs762615474 0.00001
NM_030962.4(SBF2):c.1345G>C (p.Val449Leu) rs1441833591 0.00001
NM_030962.4(SBF2):c.1386A>G (p.Leu462=) rs774591496 0.00001
NM_030962.4(SBF2):c.141+5G>A rs1284700305 0.00001
NM_030962.4(SBF2):c.141+9T>A rs760322801 0.00001
NM_030962.4(SBF2):c.142-20T>G rs748235053 0.00001
NM_030962.4(SBF2):c.1460G>A (p.Arg487Gln) rs538390886 0.00001
NM_030962.4(SBF2):c.1563A>G (p.Ile521Met) rs770392081 0.00001
NM_030962.4(SBF2):c.1582C>G (p.Pro528Ala) rs745328047 0.00001
NM_030962.4(SBF2):c.1584A>G (p.Pro528=) rs778311686 0.00001
NM_030962.4(SBF2):c.1593A>G (p.Pro531=) rs1245602198 0.00001
NM_030962.4(SBF2):c.1594C>T (p.Pro532Ser) rs1001858508 0.00001
NM_030962.4(SBF2):c.1598T>C (p.Val533Ala) rs756897983 0.00001
NM_030962.4(SBF2):c.1604C>T (p.Ser535Leu) rs542028180 0.00001
NM_030962.4(SBF2):c.1610T>C (p.Met537Thr) rs1278738726 0.00001
NM_030962.4(SBF2):c.1635C>T (p.Asn545=) rs1160157353 0.00001
NM_030962.4(SBF2):c.1653A>G (p.Glu551=) rs942849510 0.00001
NM_030962.4(SBF2):c.1725A>C (p.Ala575=) rs144514407 0.00001
NM_030962.4(SBF2):c.1770T>C (p.Asp590=) rs149269991 0.00001
NM_030962.4(SBF2):c.1799G>A (p.Arg600Gln) rs185968327 0.00001
NM_030962.4(SBF2):c.1815T>C (p.His605=) rs1388471263 0.00001
NM_030962.4(SBF2):c.1839G>A (p.Arg613=) rs776414901 0.00001
NM_030962.4(SBF2):c.1847A>G (p.Asn616Ser) rs1043801815 0.00001
NM_030962.4(SBF2):c.1852A>G (p.Thr618Ala) rs779355592 0.00001
NM_030962.4(SBF2):c.1854T>G (p.Thr618=) rs1224103000 0.00001
NM_030962.4(SBF2):c.1860+12T>C rs375954445 0.00001
NM_030962.4(SBF2):c.192G>A (p.Thr64=) rs763363470 0.00001
NM_030962.4(SBF2):c.230G>A (p.Arg77Gln) rs747102118 0.00001
NM_030962.4(SBF2):c.318G>A (p.Val106=) rs757678568 0.00001
NM_030962.4(SBF2):c.3466C>T (p.Leu1156Phe) rs1433995523 0.00001
NM_030962.4(SBF2):c.3474C>T (p.Val1158=) rs376295625 0.00001
NM_030962.4(SBF2):c.350C>G (p.Ala117Gly) rs767514383 0.00001
NM_030962.4(SBF2):c.3517C>T (p.Arg1173Cys) rs779290368 0.00001
NM_030962.4(SBF2):c.3518G>A (p.Arg1173His) rs757577170 0.00001
NM_030962.4(SBF2):c.3526C>T (p.Arg1176Ter) rs774667470 0.00001
NM_030962.4(SBF2):c.3527G>A (p.Arg1176Gln) rs185264589 0.00001
NM_030962.4(SBF2):c.354C>T (p.Pro118=) rs371771984 0.00001
NM_030962.4(SBF2):c.3565A>G (p.Arg1189Gly) rs769777008 0.00001
NM_030962.4(SBF2):c.3598T>C (p.Phe1200Leu) rs749729139 0.00001
NM_030962.4(SBF2):c.3615C>T (p.Val1205=) rs751734412 0.00001
NM_030962.4(SBF2):c.3651C>T (p.Ala1217=) rs550913752 0.00001
NM_030962.4(SBF2):c.3652+15A>G rs367955902 0.00001
NM_030962.4(SBF2):c.3652G>A (p.Ala1218Thr) rs763594624 0.00001
NM_030962.4(SBF2):c.3653-1G>A rs145183196 0.00001
NM_030962.4(SBF2):c.3658A>G (p.Thr1220Ala) rs753811515 0.00001
NM_030962.4(SBF2):c.3668T>C (p.Leu1223Ser) rs760210827 0.00001
NM_030962.4(SBF2):c.3679A>G (p.Ser1227Gly) rs368618956 0.00001
NM_030962.4(SBF2):c.3680G>C (p.Ser1227Thr) rs1261598853 0.00001
NM_030962.4(SBF2):c.3686T>C (p.Ile1229Thr) rs1443759629 0.00001
NM_030962.4(SBF2):c.3731T>C (p.Val1244Ala) rs757063919 0.00001
NM_030962.4(SBF2):c.3762T>G (p.Leu1254=) rs776896848 0.00001
NM_030962.4(SBF2):c.3770G>A (p.Arg1257Lys) rs775982886 0.00001
NM_030962.4(SBF2):c.3794-19G>A rs779377326 0.00001
NM_030962.4(SBF2):c.3811C>T (p.Arg1271Cys) rs765001700 0.00001
NM_030962.4(SBF2):c.3814T>A (p.Ser1272Thr) rs760386811 0.00001
NM_030962.4(SBF2):c.3823C>T (p.Arg1275Cys) rs956737183 0.00001
NM_030962.4(SBF2):c.3876C>A (p.Gly1292=) rs778401534 0.00001
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228 0.00001
NM_030962.4(SBF2):c.3931A>G (p.Lys1311Glu) rs200167746 0.00001
NM_030962.4(SBF2):c.3968C>T (p.Ser1323Leu) rs369288449 0.00001
NM_030962.4(SBF2):c.3979-20C>A rs1176068872 0.00001
NM_030962.4(SBF2):c.402+5A>G rs1060503800 0.00001
NM_030962.4(SBF2):c.4051G>A (p.Ala1351Thr) rs527347035 0.00001
NM_030962.4(SBF2):c.4102G>A (p.Asp1368Asn) rs144063037 0.00001
NM_030962.4(SBF2):c.4113G>A (p.Val1371=) rs1195911510 0.00001
NM_030962.4(SBF2):c.4118T>A (p.Phe1373Tyr) rs753564262 0.00001
NM_030962.4(SBF2):c.4119C>T (p.Phe1373=) rs772473795 0.00001
NM_030962.4(SBF2):c.4120C>G (p.Leu1374Val) rs746286799 0.00001
NM_030962.4(SBF2):c.4123A>G (p.Lys1375Glu) rs1217139040 0.00001
NM_030962.4(SBF2):c.4138T>A (p.Ser1380Thr) rs1564876099 0.00001
NM_030962.4(SBF2):c.413G>C (p.Gly138Ala) rs1949191748 0.00001
NM_030962.4(SBF2):c.4156-12C>G rs779854941 0.00001
NM_030962.4(SBF2):c.4156-15C>T rs746693765 0.00001
NM_030962.4(SBF2):c.4156-5C>G rs966658773 0.00001
NM_030962.4(SBF2):c.4156C>G (p.Leu1386Val) rs771436343 0.00001
NM_030962.4(SBF2):c.4180G>C (p.Val1394Leu) rs142029000 0.00001
NM_030962.4(SBF2):c.4186G>A (p.Val1396Ile) rs751799091 0.00001
NM_030962.4(SBF2):c.4204A>C (p.Asn1402His) rs1590132478 0.00001
NM_030962.4(SBF2):c.4247T>C (p.Ile1416Thr) rs370601742 0.00001
NM_030962.4(SBF2):c.4258-4C>G rs757097139 0.00001
NM_030962.4(SBF2):c.4266C>T (p.Ser1422=) rs763445946 0.00001
NM_030962.4(SBF2):c.427G>A (p.Val143Met) rs142469360 0.00001
NM_030962.4(SBF2):c.4288C>T (p.Pro1430Ser) rs1312716983 0.00001
NM_030962.4(SBF2):c.4335G>A (p.Glu1445=) rs1370306059 0.00001
NM_030962.4(SBF2):c.4373G>A (p.Ser1458Asn) rs1343934459 0.00001
NM_030962.4(SBF2):c.4416C>T (p.Phe1472=) rs1347990916 0.00001
NM_030962.4(SBF2):c.4443+20G>A rs370632930 0.00001
NM_030962.4(SBF2):c.4443+6T>C rs1450773584 0.00001
NM_030962.4(SBF2):c.444del (p.Asn149fs) rs1295003959 0.00001
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser) rs1590103742 0.00001
NM_030962.4(SBF2):c.446A>G (p.Asn149Ser) rs1337725457 0.00001
NM_030962.4(SBF2):c.4509C>T (p.His1503=) rs138816399 0.00001
NM_030962.4(SBF2):c.4570+11G>A rs370065558 0.00001
NM_030962.4(SBF2):c.474C>G (p.Asn158Lys) rs745535685 0.00001
NM_030962.4(SBF2):c.504A>T (p.Gly168=) rs781537575 0.00001
NM_030962.4(SBF2):c.5452-14A>G rs745519807 0.00001
NM_030962.4(SBF2):c.5452-5T>C rs773935983 0.00001
NM_030962.4(SBF2):c.546G>T (p.Gln182His) rs886047534 0.00001
NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484 0.00001
NM_030962.4(SBF2):c.5485G>A (p.Ala1829Thr) rs750660963 0.00001
NM_030962.4(SBF2):c.586G>A (p.Gly196Ser) rs150725040 0.00001
NM_030962.4(SBF2):c.620-9T>C rs199676895 0.00001
NM_030962.4(SBF2):c.64G>A (p.Glu22Lys) rs749815764 0.00001
NM_030962.4(SBF2):c.670G>A (p.Val224Ile) rs1209039793 0.00001
NM_030962.4(SBF2):c.703A>G (p.Ser235Gly) rs1441387053 0.00001
NM_030962.4(SBF2):c.72G>T (p.Leu24=) rs1352614927 0.00001
NM_030962.4(SBF2):c.756T>C (p.Tyr252=) rs764753779 0.00001
NM_030962.4(SBF2):c.761A>G (p.Tyr254Cys) rs1947932613 0.00001
NM_030962.4(SBF2):c.763A>G (p.Ile255Val) rs1259744769 0.00001
NM_030962.4(SBF2):c.769A>G (p.Ile257Val) rs756866661 0.00001
NM_030962.4(SBF2):c.78A>G (p.Lys26=) rs781552767 0.00001
NM_030962.4(SBF2):c.808A>G (p.Thr270Ala) rs1194829190 0.00001
NM_030962.4(SBF2):c.811C>A (p.Pro271Thr) rs1044734721 0.00001
NM_030962.4(SBF2):c.812C>G (p.Pro271Arg) rs1223197381 0.00001
NM_030962.4(SBF2):c.822T>C (p.Ile274=) rs776897720 0.00001
NM_030962.4(SBF2):c.830A>C (p.His277Pro) rs1284766357 0.00001
NM_030962.4(SBF2):c.854A>G (p.His285Arg) rs146971151 0.00001
NM_030962.4(SBF2):c.861+7A>G rs546454057 0.00001
NM_030962.4(SBF2):c.869T>G (p.Val290Gly) rs771827174 0.00001
NM_030962.4(SBF2):c.87G>C (p.Gln29His) rs751336040 0.00001
NM_030962.4(SBF2):c.90A>G (p.Arg30=) rs551470384 0.00001
NM_030962.4(SBF2):c.913T>C (p.Cys305Arg) rs758820956 0.00001
NM_030962.4(SBF2):c.925T>G (p.Ser309Ala) rs1300253311 0.00001
NM_030962.4(SBF2):c.936A>G (p.Pro312=) rs765770300 0.00001
NM_030962.4(SBF2):c.942A>G (p.Pro314=) rs753903194 0.00001
NC_000011.10:g.(?_10193902)_(10193987_?)del
NC_000011.10:g.(?_10294005)_(10294079_?)dup
NC_000011.10:g.(?_9807990)_(9858406_?)del
NC_000011.9:g.(?_10215443)_(10215540_?)del
NC_000011.9:g.(?_9801955)_(10064538_?)dup
NC_000011.9:g.(?_9809161)_(9812250_?)del
NC_000011.9:g.(?_9809171)_(9812240_?)del
NC_000011.9:g.(?_9864152)_(9871785_?)del
NC_000011.9:g.(?_9989878)_(9990102_?)del
NM_030962.4(SBF2):c.*154C>T rs1590064987
NM_030962.4(SBF2):c.*375G>A rs533676532
NM_030962.4(SBF2):c.*375G>C rs533676532
NM_030962.4(SBF2):c.*447A>T rs192282549
NM_030962.4(SBF2):c.*882T>C rs886048775
NM_030962.4(SBF2):c.1002A>C (p.Ala334=)
NM_030962.4(SBF2):c.1002A>G (p.Ala334=)
NM_030962.4(SBF2):c.1016C>T (p.Pro339Leu)
NM_030962.4(SBF2):c.1017T>C (p.Pro339=)
NM_030962.4(SBF2):c.1028C>T (p.Thr343Ile)
NM_030962.4(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
NM_030962.4(SBF2):c.1053+11del rs1238757806
NM_030962.4(SBF2):c.1054-13C>T
NM_030962.4(SBF2):c.1054-15_1054-2del
NM_030962.4(SBF2):c.1065G>A (p.Val355=) rs2134472414
NM_030962.4(SBF2):c.1088_1296+646del
NM_030962.4(SBF2):c.109G>A (p.Asp37Asn) rs759977048
NM_030962.4(SBF2):c.1102C>G (p.Gln368Glu) rs2134472163
NM_030962.4(SBF2):c.1107A>G (p.Gly369=)
NM_030962.4(SBF2):c.1112G>C (p.Arg371Thr)
NM_030962.4(SBF2):c.1130T>G (p.Ile377Arg) rs371432409
NM_030962.4(SBF2):c.1167+4A>G rs1240919799
NM_030962.4(SBF2):c.1167+7T>C
NM_030962.4(SBF2):c.1168-13del
NM_030962.4(SBF2):c.116C>T (p.Thr39Ile) rs1957273770
NM_030962.4(SBF2):c.1183C>A (p.Gln395Lys) rs1590699984
NM_030962.4(SBF2):c.1189G>T (p.Gly397Cys) rs2134469917
NM_030962.4(SBF2):c.1197C>T (p.Val399=)
NM_030962.4(SBF2):c.1214C>G (p.Thr405Ser) rs2134469840
NM_030962.4(SBF2):c.1216A>G (p.Lys406Glu) rs760704483
NM_030962.4(SBF2):c.1222C>G (p.Leu408Val) rs1220835376
NM_030962.4(SBF2):c.1240G>A (p.Ala414Thr) rs1947481086
NM_030962.4(SBF2):c.1273A>C (p.Arg425=) rs1554976504
NM_030962.4(SBF2):c.1297-10T>C rs1249564766
NM_030962.4(SBF2):c.1297-2A>G rs752649372
NM_030962.4(SBF2):c.1297-6T>C rs1554975593
NM_030962.4(SBF2):c.1308T>G (p.Phe436Leu) rs2134459399
NM_030962.4(SBF2):c.1333G>A (p.Glu445Lys) rs1565100821
NM_030962.4(SBF2):c.1338T>C (p.Asn446=)
NM_030962.4(SBF2):c.1351A>G (p.Met451Val)
NM_030962.4(SBF2):c.1395+1G>A rs1947335024
NM_030962.4(SBF2):c.1395+8_1395+11del rs763174480
NM_030962.4(SBF2):c.1396-3C>G rs375346684
NM_030962.4(SBF2):c.1396-8T>C
NM_030962.4(SBF2):c.1396-9A>G rs548520529
NM_030962.4(SBF2):c.1399A>G (p.Asn467Asp)
NM_030962.4(SBF2):c.141+11G>T rs774519680
NM_030962.4(SBF2):c.1411C>A (p.His471Asn)
NM_030962.4(SBF2):c.1412A>T (p.His471Leu) rs763176916
NM_030962.4(SBF2):c.1413T>A (p.His471Gln) rs769911496
NM_030962.4(SBF2):c.1414A>G (p.Met472Val) rs1590636623
NM_030962.4(SBF2):c.142-10T>C
NM_030962.4(SBF2):c.142-14del
NM_030962.4(SBF2):c.142-14dup rs530695547
NM_030962.4(SBF2):c.142-6A>G rs1241730559
NM_030962.4(SBF2):c.1434A>G (p.Pro478=) rs946519735
NM_030962.4(SBF2):c.1440A>G (p.Pro480=)
NM_030962.4(SBF2):c.1441A>G (p.Thr481Ala)
NM_030962.4(SBF2):c.1442C>G (p.Thr481Arg) rs2134388086
NM_030962.4(SBF2):c.1443A>G (p.Thr481=)
NM_030962.4(SBF2):c.1449A>C (p.Gly483=)
NM_030962.4(SBF2):c.144T>A (p.Phe48Leu)
NM_030962.4(SBF2):c.1459C>A (p.Arg487=) rs120074139
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.4(SBF2):c.1491T>C (p.Asn497=) rs767806871
NM_030962.4(SBF2):c.1498C>A (p.Arg500=)
NM_030962.4(SBF2):c.1515A>T (p.Ile505=)
NM_030962.4(SBF2):c.1516del (p.Gln506fs)
NM_030962.4(SBF2):c.1517A>C (p.Gln506Pro) rs2134387742
NM_030962.4(SBF2):c.1520A>G (p.Glu507Gly)
NM_030962.4(SBF2):c.1527T>A (p.Val509=)
NM_030962.4(SBF2):c.1536C>T (p.Asn512=)
NM_030962.4(SBF2):c.1537C>G (p.Gln513Glu)
NM_030962.4(SBF2):c.1537C>T (p.Gln513Ter) rs1480710758
NM_030962.4(SBF2):c.1546C>G (p.Pro516Ala)
NM_030962.4(SBF2):c.1553C>A (p.Ala518Asp) rs1474146157
NM_030962.4(SBF2):c.1555A>G (p.Thr519Ala) rs2134387621
NM_030962.4(SBF2):c.156C>A (p.Gly52=)
NM_030962.4(SBF2):c.156C>T (p.Gly52=) rs779676883
NM_030962.4(SBF2):c.1571A>C (p.Lys524Thr) rs1207040016
NM_030962.4(SBF2):c.1578T>G (p.Val526=)
NM_030962.4(SBF2):c.157G>A (p.Gly53Arg)
NM_030962.4(SBF2):c.1580T>C (p.Val527Ala) rs1867103004
NM_030962.4(SBF2):c.1600+17_1600+20del
NM_030962.4(SBF2):c.1600G>C (p.Val534Leu) rs1590635892
NM_030962.4(SBF2):c.1601-10C>A rs761998992
NM_030962.4(SBF2):c.1601-13A>G
NM_030962.4(SBF2):c.1601-3T>G rs2134369689
NM_030962.4(SBF2):c.1601-4C>G rs886048784
NM_030962.4(SBF2):c.1601-8T>G
NM_030962.4(SBF2):c.1601-8_1601-6del rs2134369709
NM_030962.4(SBF2):c.1615A>G (p.Lys539Glu) rs775279773
NM_030962.4(SBF2):c.1618G>T (p.Val540Leu) rs201806063
NM_030962.4(SBF2):c.161G>A (p.Trp54Ter) rs1166873755
NM_030962.4(SBF2):c.1622C>T (p.Thr541Met) rs372109447
NM_030962.4(SBF2):c.1626A>G (p.Thr542=)
NM_030962.4(SBF2):c.1632C>A (p.Phe544Leu) rs777289065
NM_030962.4(SBF2):c.1636A>T (p.Ser546Cys) rs2134369489
NM_030962.4(SBF2):c.1652_1653inv (p.Glu551Val)
NM_030962.4(SBF2):c.1654G>A (p.Val552Ile)
NM_030962.4(SBF2):c.165G>T (p.Gln55His)
NM_030962.4(SBF2):c.1661G>A (p.Arg554Lys) rs1161860280
NM_030962.4(SBF2):c.1675T>G (p.Phe559Val)
NM_030962.4(SBF2):c.1675_1677inv (p.Phe559Glu)
NM_030962.4(SBF2):c.167T>C (p.Leu56Pro)
NM_030962.4(SBF2):c.1710+15_1710+28del rs2134369196
NM_030962.4(SBF2):c.1711-15C>G
NM_030962.4(SBF2):c.1711-5C>A rs770969528
NM_030962.4(SBF2):c.1711-8G>T rs1590619062
NM_030962.4(SBF2):c.1711-9T>C rs1866612014
NM_030962.4(SBF2):c.1722T>A (p.Ala574=)
NM_030962.4(SBF2):c.1758G>C (p.Gln586His)
NM_030962.4(SBF2):c.1768G>A (p.Asp590Asn) rs1565064376
NM_030962.4(SBF2):c.1818A>G (p.Gln606=)
NM_030962.4(SBF2):c.181A>G (p.Lys61Glu) rs549233218
NM_030962.4(SBF2):c.1822T>G (p.Phe608Val) rs2134363226
NM_030962.4(SBF2):c.1831A>T (p.Ile611Leu) rs964428805
NM_030962.4(SBF2):c.1834A>G (p.Ile612Val)
NM_030962.4(SBF2):c.1837A>G (p.Arg613Gly)
NM_030962.4(SBF2):c.1860+10A>G rs778305149
NM_030962.4(SBF2):c.1860+15T>C
NM_030962.4(SBF2):c.187C>T (p.Pro63Ser)
NM_030962.4(SBF2):c.192_193dup (p.Phe65fs) rs1949709115
NM_030962.4(SBF2):c.195C>G (p.Phe65Leu) rs1949709027
NM_030962.4(SBF2):c.215A>C (p.Asp72Ala) rs1060500000
NM_030962.4(SBF2):c.246C>T (p.Cys82=)
NM_030962.4(SBF2):c.257A>T (p.Tyr86Phe) rs745669920
NM_030962.4(SBF2):c.266A>C (p.Glu89Ala) rs1949706329
NM_030962.4(SBF2):c.267G>T (p.Glu89Asp) rs1565165888
NM_030962.4(SBF2):c.272A>C (p.Asn91Thr) rs1206056257
NM_030962.4(SBF2):c.279+15A>G
NM_030962.4(SBF2):c.279+17T>C
NM_030962.4(SBF2):c.279+4C>A rs757128114
NM_030962.4(SBF2):c.280-17A>C rs777674707
NM_030962.4(SBF2):c.280-17A>G
NM_030962.4(SBF2):c.280-6_280-5del
NM_030962.4(SBF2):c.293A>G (p.Glu98Gly)
NM_030962.4(SBF2):c.305G>T (p.Gly102Val)
NM_030962.4(SBF2):c.313A>G (p.Lys105Glu) rs139730490
NM_030962.4(SBF2):c.331C>T (p.Gln111Ter)
NM_030962.4(SBF2):c.332A>C (p.Gln111Pro) rs1949239187
NM_030962.4(SBF2):c.344T>G (p.Val115Gly)
NM_030962.4(SBF2):c.3456-12A>G
NM_030962.4(SBF2):c.3456-12_3456-11del
NM_030962.4(SBF2):c.3456-18T>C
NM_030962.4(SBF2):c.3456-19C>T
NM_030962.4(SBF2):c.3456-22_3456-18del rs751512324
NM_030962.4(SBF2):c.3457T>C (p.Tyr1153His) rs1060499998
NM_030962.4(SBF2):c.3469T>A (p.Leu1157Ile) rs2133937354
NM_030962.4(SBF2):c.3475G>A (p.Val1159Ile)
NM_030962.4(SBF2):c.3479C>T (p.Pro1160Leu) rs1233967178
NM_030962.4(SBF2):c.3483A>G (p.Gln1161=)
NM_030962.4(SBF2):c.348T>G (p.Phe116Leu) rs1949238558
NM_030962.4(SBF2):c.3501T>C (p.Ser1167=)
NM_030962.4(SBF2):c.3505C>A (p.Pro1169Thr) rs535680998
NM_030962.4(SBF2):c.3507A>G (p.Pro1169=)
NM_030962.4(SBF2):c.3522C>T (p.Cys1174=)
NM_030962.4(SBF2):c.353C>T (p.Pro118Leu) rs1949238001
NM_030962.4(SBF2):c.3540G>A (p.Leu1180=)
NM_030962.4(SBF2):c.3547G>T (p.Val1183Leu) rs2133937176
NM_030962.4(SBF2):c.3550T>C (p.Cys1184Arg) rs762738168
NM_030962.4(SBF2):c.3576T>G (p.Thr1192=) rs779580044
NM_030962.4(SBF2):c.3579G>C (p.Leu1193=) rs2133937125
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter) rs120074138
NM_030962.4(SBF2):c.3587G>A (p.Arg1196Gln) rs376309876
NM_030962.4(SBF2):c.3602A>G (p.His1201Arg) rs869312970
NM_030962.4(SBF2):c.3609G>A (p.Lys1203=)
NM_030962.4(SBF2):c.3611G>T (p.Gly1204Val) rs781282456
NM_030962.4(SBF2):c.3618T>C (p.Val1206=) rs1855446145
NM_030962.4(SBF2):c.3632C>G (p.Ser1211Cys) rs1356162033
NM_030962.4(SBF2):c.3642C>T (p.Ser1214=) rs2133937017
NM_030962.4(SBF2):c.3644C>G (p.Pro1215Arg) rs1855445153
NM_030962.4(SBF2):c.364G>A (p.Val122Met)
NM_030962.4(SBF2):c.3652+13C>G
NM_030962.4(SBF2):c.3652+1G>C
NM_030962.4(SBF2):c.3652+5G>A rs199502044
NM_030962.4(SBF2):c.3652+9CT[2] rs376260584
NM_030962.4(SBF2):c.3653-15A>G
NM_030962.4(SBF2):c.3653-19A>C rs1855259655
NM_030962.4(SBF2):c.3656C>T (p.Pro1219Leu)
NM_030962.4(SBF2):c.3659C>T (p.Thr1220Ile) rs1439541685
NM_030962.4(SBF2):c.3673T>A (p.Ser1225Thr)
NM_030962.4(SBF2):c.3674C>A (p.Ser1225Tyr) rs759215256
NM_030962.4(SBF2):c.3674_3691dup (p.Glu1230_Gln1231insProSerSerSerIleGlu) rs2133931845
NM_030962.4(SBF2):c.3712T>A (p.Leu1238Ile) rs1564890006
NM_030962.4(SBF2):c.3720T>C (p.Asn1240=)
NM_030962.4(SBF2):c.3722C>A (p.Ala1241Asp) rs779174513
NM_030962.4(SBF2):c.3734A>G (p.His1245Arg) rs2133931756
NM_030962.4(SBF2):c.3741A>T (p.Lys1247Asn) rs1855252886
NM_030962.4(SBF2):c.3745A>G (p.Arg1249Gly) rs1554914278
NM_030962.4(SBF2):c.3759T>G (p.Thr1253=)
NM_030962.4(SBF2):c.3761T>A (p.Leu1254His)
NM_030962.4(SBF2):c.3761T>C (p.Leu1254Pro) rs762211340
NM_030962.4(SBF2):c.3777C>A (p.Ala1259=)
NM_030962.4(SBF2):c.3777C>G (p.Ala1259=)
NM_030962.4(SBF2):c.3784C>G (p.Leu1262Val) rs1270676073
NM_030962.4(SBF2):c.3784C>T (p.Leu1262=) rs1270676073
NM_030962.4(SBF2):c.3793+10G>A
NM_030962.4(SBF2):c.3793+14A>G rs2133931561
NM_030962.4(SBF2):c.3793+14_3793+16del rs773684325
NM_030962.4(SBF2):c.3793+17C>A rs755950037
NM_030962.4(SBF2):c.3793+17C>T
NM_030962.4(SBF2):c.3794-11C>T
NM_030962.4(SBF2):c.379T>C (p.Leu127=)
NM_030962.4(SBF2):c.3804A>C (p.Ala1268=)
NM_030962.4(SBF2):c.3812G>T (p.Arg1271Leu) rs201249004
NM_030962.4(SBF2):c.3823C>G (p.Arg1275Gly) rs956737183
NM_030962.4(SBF2):c.3837T>G (p.Ser1279=) rs1554909254
NM_030962.4(SBF2):c.3840A>G (p.Pro1280=)
NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala) rs869312963
NM_030962.4(SBF2):c.3866G>T (p.Arg1289Leu) rs757836523
NM_030962.4(SBF2):c.3871G>C (p.Ala1291Pro) rs1488414945
NM_030962.4(SBF2):c.387T>A (p.Tyr129Ter)
NM_030962.4(SBF2):c.387T>C (p.Tyr129=) rs1590797444
NM_030962.4(SBF2):c.3888G>A (p.Ser1296=) rs375669985
NM_030962.4(SBF2):c.389C>T (p.Pro130Leu) rs1201147678
NM_030962.4(SBF2):c.3902A>G (p.Asn1301Ser) rs1429630644
NM_030962.4(SBF2):c.3925C>T (p.Leu1309Phe) rs1564879807
NM_030962.4(SBF2):c.3938A>G (p.Gln1313Arg) rs1554909178
NM_030962.4(SBF2):c.3945C>G (p.Ala1315=)
NM_030962.4(SBF2):c.394A>G (p.Ile132Val)
NM_030962.4(SBF2):c.3956T>G (p.Phe1319Cys) rs2133911307
NM_030962.4(SBF2):c.3969G>T (p.Ser1323=) rs77833016
NM_030962.4(SBF2):c.3975A>G (p.Leu1325=)
NM_030962.4(SBF2):c.3979-2A>G
NM_030962.4(SBF2):c.3979-4G>A rs375742620
NM_030962.4(SBF2):c.3979-4G>T rs375742620
NM_030962.4(SBF2):c.3979-5C>T
NM_030962.4(SBF2):c.3979-9C>T
NM_030962.4(SBF2):c.402+11_402+21del
NM_030962.4(SBF2):c.402+12_402+13insAAAAAATG
NM_030962.4(SBF2):c.402+14A>G
NM_030962.4(SBF2):c.402+15G>C
NM_030962.4(SBF2):c.402+16T>C
NM_030962.4(SBF2):c.403-11T>C
NM_030962.4(SBF2):c.403-12A>T
NM_030962.4(SBF2):c.403-13T>C
NM_030962.4(SBF2):c.403-4G>C
NM_030962.4(SBF2):c.403-5del
NM_030962.4(SBF2):c.4052C>A (p.Ala1351Asp) rs2133904474
NM_030962.4(SBF2):c.405T>C (p.Ala135=)
NM_030962.4(SBF2):c.4067T>C (p.Leu1356Pro) rs1854252785
NM_030962.4(SBF2):c.4074G>A (p.Arg1358=)
NM_030962.4(SBF2):c.4090A>G (p.Thr1364Ala)
NM_030962.4(SBF2):c.4094T>G (p.Ile1365Ser)
NM_030962.4(SBF2):c.409C>G (p.Leu137Val) rs200954150
NM_030962.4(SBF2):c.4111G>A (p.Val1371Met) rs149501654
NM_030962.4(SBF2):c.411G>T (p.Leu137=) rs1949191944
NM_030962.4(SBF2):c.4121T>G (p.Leu1374Arg) rs1854248122
NM_030962.4(SBF2):c.412G>C (p.Gly138Arg)
NM_030962.4(SBF2):c.4133G>A (p.Gly1378Glu) rs1854247198
NM_030962.4(SBF2):c.4137T>C (p.Asp1379=)
NM_030962.4(SBF2):c.4146G>C (p.Trp1382Cys) rs1854246275
NM_030962.4(SBF2):c.4155+16G>C
NM_030962.4(SBF2):c.4155+7T>C
NM_030962.4(SBF2):c.4156-15_4156-5del rs745522461
NM_030962.4(SBF2):c.4156-4T>C
NM_030962.4(SBF2):c.4156-7C>G rs2133898233
NM_030962.4(SBF2):c.4156-9G>A rs2133898236
NM_030962.4(SBF2):c.415T>G (p.Leu139Val) rs146361949
NM_030962.4(SBF2):c.4161C>T (p.His1387=)
NM_030962.4(SBF2):c.4162A>C (p.Arg1388=) rs1854010179
NM_030962.4(SBF2):c.4171C>G (p.Gln1391Glu)
NM_030962.4(SBF2):c.4173G>T (p.Gln1391His)
NM_030962.4(SBF2):c.417G>A (p.Leu139=)
NM_030962.4(SBF2):c.4183G>T (p.Val1395Phe)
NM_030962.4(SBF2):c.4187dup (p.Ser1397fs)
NM_030962.4(SBF2):c.4203G>C (p.Glu1401Asp) rs750353766
NM_030962.4(SBF2):c.4209T>C (p.Gly1403=)
NM_030962.4(SBF2):c.420C>A (p.Ile140=)
NM_030962.4(SBF2):c.4214C>T (p.Ser1405Leu)
NM_030962.4(SBF2):c.4221G>C (p.Leu1407Phe)
NM_030962.4(SBF2):c.4236A>G (p.Glu1412=)
NM_030962.4(SBF2):c.4257+14C>T rs771419758
NM_030962.4(SBF2):c.4257+17del
NM_030962.4(SBF2):c.4257+20T>C
NM_030962.4(SBF2):c.4258-18A>T
NM_030962.4(SBF2):c.4258-20C>G rs1324228041
NM_030962.4(SBF2):c.4260G>T (p.Val1420=)
NM_030962.4(SBF2):c.426C>T (p.Thr142=)
NM_030962.4(SBF2):c.4279C>T (p.Leu1427Phe) rs760329902
NM_030962.4(SBF2):c.4282A>G (p.Ser1428Gly) rs2133896771
NM_030962.4(SBF2):c.4283G>T (p.Ser1428Ile) rs1853958713
NM_030962.4(SBF2):c.4290C>T (p.Pro1430=) rs1853958405
NM_030962.4(SBF2):c.4296T>G (p.Tyr1432Ter)
NM_030962.4(SBF2):c.4297dup (p.Arg1433fs)
NM_030962.4(SBF2):c.4299G>C (p.Arg1433Ser) rs1590131053
NM_030962.4(SBF2):c.4301C>T (p.Thr1434Ile)
NM_030962.4(SBF2):c.4331_4332del (p.Lys1444fs) rs1853955279
NM_030962.4(SBF2):c.4332A>C (p.Lys1444Asn) rs1853955123
NM_030962.4(SBF2):c.4347T>C (p.Phe1449=)
NM_030962.4(SBF2):c.4351C>G (p.His1451Asp) rs2133896649
NM_030962.4(SBF2):c.4355A>G (p.Lys1452Arg) rs1853954509
NM_030962.4(SBF2):c.4363C>T (p.Gln1455Ter)
NM_030962.4(SBF2):c.4368G>A (p.Arg1456=)
NM_030962.4(SBF2):c.4377G>C (p.Leu1459Phe)
NM_030962.4(SBF2):c.4384A>T (p.Asn1462Tyr) rs1853953374
NM_030962.4(SBF2):c.4395G>A (p.Gly1465=)
NM_030962.4(SBF2):c.4408C>G (p.Pro1470Ala)
NM_030962.4(SBF2):c.440G>A (p.Ser147Asn) rs1949190497
NM_030962.4(SBF2):c.4420C>G (p.Gln1474Glu) rs1590130857
NM_030962.4(SBF2):c.4425C>G (p.Phe1475Leu)
NM_030962.4(SBF2):c.4443+13A>T
NM_030962.4(SBF2):c.4443+14G>T
NM_030962.4(SBF2):c.4443+18G>C
NM_030962.4(SBF2):c.4443+19A>T
NM_030962.4(SBF2):c.4443+1G>A rs1564872328
NM_030962.4(SBF2):c.4443+1G>C rs1564872328
NM_030962.4(SBF2):c.4444G>A (p.Val1482Ile)
NM_030962.4(SBF2):c.4465G>A (p.Glu1489Lys) rs864622502
NM_030962.4(SBF2):c.4478A>G (p.Asn1493Ser)
NM_030962.4(SBF2):c.4491A>G (p.Leu1497=)
NM_030962.4(SBF2):c.4510T>G (p.Tyr1504Asp) rs1853093188
NM_030962.4(SBF2):c.4516T>G (p.Ser1506Ala)
NM_030962.4(SBF2):c.4522C>G (p.Arg1508Gly) rs141108330
NM_030962.4(SBF2):c.4539C>T (p.Leu1513=) rs756073763
NM_030962.4(SBF2):c.4564G>C (p.Glu1522Gln) rs1853090043
NM_030962.4(SBF2):c.456G>A (p.Leu152=) rs1949189908
NM_030962.4(SBF2):c.4570+13A>T rs945495130
NM_030962.4(SBF2):c.4570+14T>C
NM_030962.4(SBF2):c.4570+19T>C
NM_030962.4(SBF2):c.4570+20T>C
NM_030962.4(SBF2):c.463C>T (p.Leu155=)
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe) rs1214507322
NM_030962.4(SBF2):c.492C>G (p.Val164=) rs559769224
NM_030962.4(SBF2):c.494C>T (p.Pro165Leu) rs1949187604
NM_030962.4(SBF2):c.497C>T (p.Ala166Val)
NM_030962.4(SBF2):c.498G>A (p.Ala166=)
NM_030962.4(SBF2):c.506G>A (p.Gly169Glu) rs1949186665
NM_030962.4(SBF2):c.513+10A>G
NM_030962.4(SBF2):c.513+4A>G rs1554990552
NM_030962.4(SBF2):c.513+5A>G rs1949186125
NM_030962.4(SBF2):c.514-12C>A rs770141264
NM_030962.4(SBF2):c.514-9A>G rs906365170
NM_030962.4(SBF2):c.525T>C (p.Ser175=) rs2134627335
NM_030962.4(SBF2):c.527T>C (p.Leu176Ser) rs1554990128
NM_030962.4(SBF2):c.536G>A (p.Gly179Glu)
NM_030962.4(SBF2):c.5452-13T>C
NM_030962.4(SBF2):c.5452-16T>C
NM_030962.4(SBF2):c.5452-3T>C rs770176461
NM_030962.4(SBF2):c.5470G>A (p.Val1824Met) rs1851934295
NM_030962.4(SBF2):c.5472G>A (p.Val1824=) rs1353568885
NM_030962.4(SBF2):c.5472G>C (p.Val1824=) rs1353568885
NM_030962.4(SBF2):c.5498A>G (p.Gln1833Arg) rs763965438
NM_030962.4(SBF2):c.5503G>A (p.Ala1835Thr) rs886048778
NM_030962.4(SBF2):c.5522A>G (p.Lys1841Arg)
NM_030962.4(SBF2):c.5530_5531del (p.Ser1844fs) rs1293444505
NM_030962.4(SBF2):c.5547C>A (p.Ala1849=)
NM_030962.4(SBF2):c.555G>C (p.Gln185His) rs1254270693
NM_030962.4(SBF2):c.56-1G>A rs2135330973
NM_030962.4(SBF2):c.564A>G (p.Leu188=)
NM_030962.4(SBF2):c.565C>T (p.His189Tyr) rs1280211892
NM_030962.4(SBF2):c.568G>A (p.Asp190Asn) rs201738577
NM_030962.4(SBF2):c.574C>G (p.Leu192Val) rs1949129969
NM_030962.4(SBF2):c.595G>A (p.Val199Met)
NM_030962.4(SBF2):c.600T>G (p.Ala200=) rs770433606
NM_030962.4(SBF2):c.610C>T (p.Gln204Ter) rs141133392
NM_030962.4(SBF2):c.611A>G (p.Gln204Arg) rs2134626742
NM_030962.4(SBF2):c.612G>A (p.Gln204=) rs1554990046
NM_030962.4(SBF2):c.613C>T (p.Gln205Ter)
NM_030962.4(SBF2):c.614A>C (p.Gln205Pro) rs1949128392
NM_030962.4(SBF2):c.615A>G (p.Gln205=)
NM_030962.4(SBF2):c.616T>C (p.Leu206=) rs1590791206
NM_030962.4(SBF2):c.619+18T>C
NM_030962.4(SBF2):c.619+6T>A
NM_030962.4(SBF2):c.61G>A (p.Gly21Arg) rs774844294
NM_030962.4(SBF2):c.620-10dup rs1948023557
NM_030962.4(SBF2):c.626A>C (p.Gln209Pro)
NM_030962.4(SBF2):c.636C>T (p.Leu212=)
NM_030962.4(SBF2):c.651A>C (p.Ala217=) rs200293270
NM_030962.4(SBF2):c.673C>T (p.Leu225Phe)
NM_030962.4(SBF2):c.674T>C (p.Leu225Pro)
NM_030962.4(SBF2):c.675C>G (p.Leu225=) rs2134514191
NM_030962.4(SBF2):c.699A>G (p.Arg233=)
NM_030962.4(SBF2):c.700C>T (p.Leu234Phe) rs749378136
NM_030962.4(SBF2):c.716G>A (p.Arg239Lys)
NM_030962.4(SBF2):c.724G>T (p.Glu242Ter)
NM_030962.4(SBF2):c.727T>A (p.Ser243Thr)
NM_030962.4(SBF2):c.728C>A (p.Ser243Tyr) rs2134513972
NM_030962.4(SBF2):c.735G>A (p.Met245Ile) rs1554981022
NM_030962.4(SBF2):c.745A>G (p.Lys249Glu)
NM_030962.4(SBF2):c.747A>G (p.Lys249=) rs1554981019
NM_030962.4(SBF2):c.752+12A>G
NM_030962.4(SBF2):c.753-10T>C rs2134507238
NM_030962.4(SBF2):c.753-16T>C rs7128234
NM_030962.4(SBF2):c.753-18T>C
NM_030962.4(SBF2):c.753-4C>G
NM_030962.4(SBF2):c.754_823del (p.Tyr252fs) rs1565115957
NM_030962.4(SBF2):c.75G>A (p.Gly25=) rs1279874044
NM_030962.4(SBF2):c.766C>A (p.Pro256Thr) rs879253987
NM_030962.4(SBF2):c.767C>G (p.Pro256Arg) rs1947932193
NM_030962.4(SBF2):c.76A>G (p.Lys26Glu)
NM_030962.4(SBF2):c.772C>G (p.Leu258Val)
NM_030962.4(SBF2):c.776C>T (p.Pro259Leu)
NM_030962.4(SBF2):c.782A>G (p.Gln261Arg)
NM_030962.4(SBF2):c.791A>G (p.Glu264Gly) rs928271143
NM_030962.4(SBF2):c.793G>T (p.Val265Phe) rs1655963955
NM_030962.4(SBF2):c.796C>G (p.Leu266Val) rs1565116051
NM_030962.4(SBF2):c.804C>T (p.Ser268=) rs763567646
NM_030962.4(SBF2):c.810G>T (p.Thr270=) rs769963369
NM_030962.4(SBF2):c.815dup (p.Ile273fs)
NM_030962.4(SBF2):c.819T>C (p.Ile273=) rs1947929110
NM_030962.4(SBF2):c.820A>G (p.Ile274Val)
NM_030962.4(SBF2):c.861+5G>C rs879253963
NM_030962.4(SBF2):c.861+9T>A rs1947927028
NM_030962.4(SBF2):c.861+9T>G rs1947927028
NM_030962.4(SBF2):c.862-12T>A
NM_030962.4(SBF2):c.862-12dup rs766293143
NM_030962.4(SBF2):c.862-15T>C
NM_030962.4(SBF2):c.862-2A>G rs1590716243
NM_030962.4(SBF2):c.862-7C>G
NM_030962.4(SBF2):c.873C>T (p.Ile291=) rs2134496815
NM_030962.4(SBF2):c.873_875del (p.Ile292del) rs2134496803
NM_030962.4(SBF2):c.883T>A (p.Leu295Met)
NM_030962.4(SBF2):c.887A>T (p.Asp296Val)
NM_030962.4(SBF2):c.910G>A (p.Glu304Lys) rs781039677
NM_030962.4(SBF2):c.910G>C (p.Glu304Gln) rs781039677
NM_030962.4(SBF2):c.931C>T (p.Leu311Phe)
NM_030962.4(SBF2):c.933C>A (p.Leu311=)
NM_030962.4(SBF2):c.935C>T (p.Pro312Leu) rs1947799030
NM_030962.4(SBF2):c.948A>C (p.Leu316=) rs772340409
NM_030962.4(SBF2):c.952C>T (p.Gln318Ter)
NM_030962.4(SBF2):c.958C>T (p.Gln320Ter)
NM_030962.4(SBF2):c.975+10A>G
NM_030962.4(SBF2):c.975+8A>G rs371861993
NM_030962.4(SBF2):c.981A>G (p.Leu327=)
NM_030962.4(SBF2):c.986C>T (p.Pro329Leu)
NM_030962.4(SBF2):c.989A>G (p.Asp330Gly)

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