ClinVar Miner

List of variants in gene SPTBN2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 1019
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly) rs4930388 0.98751
NM_006946.4(SPTBN2):c.657-47G>A rs615536 0.89277
NM_006946.4(SPTBN2):c.2816+23A>G rs532439 0.72382
NM_006946.4(SPTBN2):c.5950-282G>A rs508996 0.66926
NM_006946.4(SPTBN2):c.6035-67A>G rs2276138 0.42368
NM_006946.4(SPTBN2):c.5565+59G>A rs12804382 0.41858
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_006946.4(SPTBN2):c.3573+228A>T rs79496339 0.11320
NM_006946.4(SPTBN2):c.5565+79A>G rs76228630 0.11246
NM_006946.4(SPTBN2):c.772+311A>C rs77125470 0.10548
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=) rs34775878 0.08024
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=) rs639938 0.06187
NM_006946.4(SPTBN2):c.1074-240G>A rs645307 0.04847
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=) rs623022 0.04821
NM_006946.4(SPTBN2):c.3776+62C>T rs116754495 0.03439
NM_006946.4(SPTBN2):c.6035-82G>A rs117394165 0.02435
NM_006946.4(SPTBN2):c.6897-89T>C rs78894466 0.02184
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855 0.01604
NM_006946.4(SPTBN2):c.1192-124C>T rs114909410 0.01352
NM_006946.4(SPTBN2):c.2473= (p.Ser825=) rs4930388 0.01249
NM_006946.4(SPTBN2):c.6232-36A>G rs79774424 0.01213
NM_006946.4(SPTBN2):c.5191-111T>G rs115016940 0.01177
NM_006946.4(SPTBN2):c.158-218_158-217insAAA rs201358632 0.01176
NM_006946.4(SPTBN2):c.885+5T>C rs114331192 0.01156
NM_006946.4(SPTBN2):c.234G>A (p.Val78=) rs78309877 0.01155
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=) rs34275473 0.01154
NM_006946.4(SPTBN2):c.2678+208C>G rs77000671 0.01154
NM_006946.4(SPTBN2):c.484-124G>A rs114691024 0.01151
NM_006946.4(SPTBN2):c.158-153T>C rs9666734 0.01143
NM_006946.4(SPTBN2):c.483+51C>T rs115917700 0.00980
NM_006946.4(SPTBN2):c.5565+58C>T rs112961673 0.00966
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217 0.00966
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=) rs34117933 0.00956
NM_006946.4(SPTBN2):c.4014+135T>C rs115645857 0.00874
NM_006946.4(SPTBN2):c.310-121G>A rs76318577 0.00871
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199 0.00819
NM_006946.4(SPTBN2):c.309+127G>A rs11828633 0.00765
NM_006946.4(SPTBN2):c.4279-28A>T rs116705466 0.00757
NM_006946.4(SPTBN2):c.4985+11C>T rs11227572 0.00707
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00560
NM_006946.4(SPTBN2):c.6723-14C>T rs186232313 0.00525
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603 0.00477
NM_006946.4(SPTBN2):c.6099G>A (p.Glu2033=) rs150696057 0.00458
NM_006946.4(SPTBN2):c.4447C>T (p.Arg1483Cys) rs115062978 0.00441
NM_006946.4(SPTBN2):c.2503G>A (p.Glu835Lys) rs36054877 0.00433
NM_006946.4(SPTBN2):c.157+16G>A rs188230336 0.00404
NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=) rs74909073 0.00352
NM_006946.4(SPTBN2):c.5950-8G>A rs201759431 0.00277
NM_006946.4(SPTBN2):c.1416G>A (p.Thr472=) rs145249947 0.00245
NM_006946.4(SPTBN2):c.1068G>A (p.Pro356=) rs150080880 0.00239
NM_006946.4(SPTBN2):c.1221C>T (p.His407=) rs143596433 0.00212
NM_006946.4(SPTBN2):c.6896+11G>A rs141969559 0.00203
NM_006946.4(SPTBN2):c.4921G>A (p.Ala1641Thr) rs143640999 0.00191
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=) rs144939155 0.00173
NM_006946.4(SPTBN2):c.1434C>T (p.Ser478=) rs35463342 0.00168
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=) rs35370566 0.00168
NM_006946.4(SPTBN2):c.2816+22C>T rs116441572 0.00160
NM_006946.4(SPTBN2):c.3111C>T (p.Asn1037=) rs149124496 0.00145
NM_006946.4(SPTBN2):c.5566-20T>G rs367743617 0.00145
NM_006946.4(SPTBN2):c.1654-13G>A rs200980512 0.00134
NM_006946.4(SPTBN2):c.1807+13C>T rs151122248 0.00132
NM_006946.4(SPTBN2):c.5980C>T (p.Arg1994Trp) rs140000699 0.00127
NM_006946.4(SPTBN2):c.6375-16C>G rs376626638 0.00112
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321 0.00102
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=) rs143083152 0.00100
NM_006946.4(SPTBN2):c.4985+12G>A rs199692345 0.00098
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813 0.00089
NM_006946.4(SPTBN2):c.2631G>C (p.Gly877=) rs77593272 0.00087
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_006946.4(SPTBN2):c.2904G>A (p.Thr968=) rs143948660 0.00081
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00077
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp) rs116099040 0.00074
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890 0.00067
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp) rs150607879 0.00061
NM_006946.4(SPTBN2):c.590A>G (p.Asn197Ser) rs148154681 0.00057
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210 0.00056
NM_006946.4(SPTBN2):c.5139C>T (p.Arg1713=) rs146602750 0.00056
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428 0.00056
NM_006946.4(SPTBN2):c.3885C>T (p.Asp1295=) rs146526805 0.00053
NM_006946.4(SPTBN2):c.24A>G (p.Thr8=) rs141277535 0.00051
NM_006946.4(SPTBN2):c.2678+12A>C rs577075100 0.00051
NM_006946.4(SPTBN2):c.575+17C>T rs369135314 0.00043
NM_006946.4(SPTBN2):c.6765C>T (p.Leu2255=) rs142769916 0.00041
NM_006946.4(SPTBN2):c.4594-7T>C rs150454036 0.00037
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00036
NM_006946.4(SPTBN2):c.1764G>A (p.Arg588=) rs116534626 0.00036
NM_006946.4(SPTBN2):c.2319C>T (p.Pro773=) rs149067190 0.00036
NM_006946.4(SPTBN2):c.3671A>G (p.Asn1224Ser) rs139077453 0.00035
NM_006946.4(SPTBN2):c.2973G>A (p.Leu991=) rs150889747 0.00031
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00031
NM_006946.4(SPTBN2):c.1482G>T (p.Glu494Asp) rs372109002 0.00030
NM_006946.4(SPTBN2):c.6940-14C>A rs189152678 0.00030
NM_006946.4(SPTBN2):c.-56C>T rs527588843 0.00029
NM_006946.4(SPTBN2):c.4418T>C (p.Leu1473Ser) rs146137419 0.00029
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) rs764407421 0.00028
NM_006946.4(SPTBN2):c.4800G>A (p.Ala1600=) rs146007976 0.00024
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=) rs376219874 0.00021
NM_006946.4(SPTBN2):c.3749G>A (p.Arg1250Gln) rs145948524 0.00021
NM_006946.4(SPTBN2):c.2495G>A (p.Arg832Gln) rs749281906 0.00020
NM_006946.4(SPTBN2):c.4374G>T (p.Glu1458Asp) rs142378119 0.00020
NM_006946.4(SPTBN2):c.3516C>T (p.His1172=) rs149829140 0.00019
NM_006946.4(SPTBN2):c.5984G>A (p.Arg1995His) rs139107445 0.00019
NM_006946.4(SPTBN2):c.1676T>C (p.Leu559Pro) rs780084962 0.00018
NM_006946.4(SPTBN2):c.168A>G (p.Glu56=) rs145112518 0.00018
NM_006946.4(SPTBN2):c.4634C>T (p.Ala1545Val) rs150801133 0.00018
NM_006946.4(SPTBN2):c.1495A>T (p.Ile499Phe) rs370108116 0.00017
NM_006946.4(SPTBN2):c.5088G>A (p.Leu1696=) rs369435626 0.00017
NM_006946.4(SPTBN2):c.3374G>A (p.Arg1125Gln) rs375601930 0.00016
NM_006946.4(SPTBN2):c.3804G>A (p.Gln1268=) rs143537378 0.00016
NM_006946.4(SPTBN2):c.5031C>T (p.Ala1677=) rs201752194 0.00016
NM_006946.4(SPTBN2):c.5495T>G (p.Leu1832Arg) rs202081167 0.00016
NM_006946.4(SPTBN2):c.6385C>T (p.Arg2129Trp) rs556784868 0.00016
NM_006946.4(SPTBN2):c.6798G>A (p.Ala2266=) rs140748364 0.00016
NM_006946.4(SPTBN2):c.6813C>T (p.His2271=) rs545082298 0.00016
NM_006946.4(SPTBN2):c.768C>T (p.Pro256=) rs201821131 0.00016
NM_006946.4(SPTBN2):c.2455C>T (p.Arg819Cys) rs141021167 0.00014
NM_006946.4(SPTBN2):c.3963A>G (p.Ala1321=) rs142480868 0.00014
NM_006946.4(SPTBN2):c.4485C>T (p.Arg1495=) rs145930414 0.00014
NM_006946.4(SPTBN2):c.6572C>T (p.Pro2191Leu) rs199880827 0.00014
NM_006946.4(SPTBN2):c.1350+17C>T rs201869697 0.00013
NM_006946.4(SPTBN2):c.1934G>A (p.Arg645His) rs536915281 0.00013
NM_006946.4(SPTBN2):c.2238C>T (p.Ala746=) rs555186039 0.00013
NM_006946.4(SPTBN2):c.4022G>A (p.Arg1341Gln) rs149992317 0.00013
NM_006946.4(SPTBN2):c.2022C>T (p.Thr674=) rs377439463 0.00012
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val) rs150610657 0.00012
NM_006946.4(SPTBN2):c.4959C>T (p.Asp1653=) rs572061488 0.00012
NM_006946.4(SPTBN2):c.5310C>G (p.Ala1770=) rs142489577 0.00012
NM_006946.4(SPTBN2):c.5658C>T (p.Ala1886=) rs199624385 0.00012
NM_006946.4(SPTBN2):c.2459C>T (p.Thr820Met) rs548188891 0.00011
NM_006946.4(SPTBN2):c.310-12G>A rs373735852 0.00011
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111 0.00011
NM_006946.4(SPTBN2):c.3707G>A (p.Arg1236His) rs372553453 0.00011
NM_006946.4(SPTBN2):c.4632C>T (p.Ile1544=) rs139176086 0.00011
NM_006946.4(SPTBN2):c.5099G>A (p.Arg1700His) rs141457344 0.00011
NM_006946.4(SPTBN2):c.5339A>G (p.Asn1780Ser) rs375849761 0.00011
NM_006946.4(SPTBN2):c.6114C>T (p.Ser2038=) rs140580417 0.00011
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00011
NM_006946.4(SPTBN2):c.774C>T (p.Asp258=) rs139240091 0.00011
NM_006946.4(SPTBN2):c.2382G>A (p.Glu794=) rs368173749 0.00010
NM_006946.4(SPTBN2):c.4046A>C (p.Glu1349Ala) rs140585577 0.00010
NM_006946.4(SPTBN2):c.4985+20G>A rs367688012 0.00010
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690 0.00010
NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=) rs150837212 0.00009
NM_006946.4(SPTBN2):c.1892C>T (p.Ala631Val) rs143795261 0.00009
NM_006946.4(SPTBN2):c.2262C>T (p.Ala754=) rs368022952 0.00009
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=) rs141552965 0.00009
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His) rs377663856 0.00009
NM_006946.4(SPTBN2):c.3347G>A (p.Arg1116Gln) rs372569008 0.00009
NM_006946.4(SPTBN2):c.3397C>T (p.Arg1133Trp) rs200427839 0.00009
NM_006946.4(SPTBN2):c.6940-11T>C rs551276248 0.00009
NM_006946.4(SPTBN2):c.1351-8C>T rs753293444 0.00008
NM_006946.4(SPTBN2):c.2934C>G (p.Thr978=) rs777698637 0.00008
NM_006946.4(SPTBN2):c.3164G>A (p.Arg1055Gln) rs150359739 0.00008
NM_006946.4(SPTBN2):c.5383C>G (p.Gln1795Glu) rs144465703 0.00008
NM_006946.4(SPTBN2):c.5692G>A (p.Ala1898Thr) rs759505522 0.00008
NM_006946.4(SPTBN2):c.5950-9C>T rs554781314 0.00008
NM_006946.4(SPTBN2):c.1457C>A (p.Ala486Asp) rs763948508 0.00007
NM_006946.4(SPTBN2):c.1504A>G (p.Ile502Val) rs751351000 0.00007
NM_006946.4(SPTBN2):c.1914G>A (p.Glu638=) rs367863277 0.00007
NM_006946.4(SPTBN2):c.2097C>T (p.Leu699=) rs944357366 0.00007
NM_006946.4(SPTBN2):c.2209G>A (p.Glu737Lys) rs766618779 0.00007
NM_006946.4(SPTBN2):c.2574C>T (p.Leu858=) rs559959631 0.00007
NM_006946.4(SPTBN2):c.2816+5G>A rs369265033 0.00007
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln) rs753324919 0.00007
NM_006946.4(SPTBN2):c.3448C>T (p.Leu1150=) rs374741931 0.00007
NM_006946.4(SPTBN2):c.5474C>T (p.Pro1825Leu) rs140642213 0.00007
NM_006946.4(SPTBN2):c.6501+13G>C rs188366722 0.00007
NM_006946.4(SPTBN2):c.7051C>T (p.Arg2351Trp) rs753896989 0.00007
NM_006946.4(SPTBN2):c.1336C>T (p.Arg446Cys) rs147422843 0.00006
NM_006946.4(SPTBN2):c.1653+13C>T rs376349935 0.00006
NM_006946.4(SPTBN2):c.1922G>A (p.Arg641Gln) rs553463768 0.00006
NM_006946.4(SPTBN2):c.2944G>A (p.Glu982Lys) rs777790247 0.00006
NM_006946.4(SPTBN2):c.2967C>T (p.Asn989=) rs761027154 0.00006
NM_006946.4(SPTBN2):c.3059G>A (p.Arg1020Gln) rs758312194 0.00006
NM_006946.4(SPTBN2):c.3693C>T (p.Leu1231=) rs768135548 0.00006
NM_006946.4(SPTBN2):c.3718T>A (p.Ser1240Thr) rs376594612 0.00006
NM_006946.4(SPTBN2):c.3739G>A (p.Asp1247Asn) rs755140928 0.00006
NM_006946.4(SPTBN2):c.3748C>T (p.Arg1250Trp) rs766723349 0.00006
NM_006946.4(SPTBN2):c.4233C>T (p.Tyr1411=) rs151331478 0.00006
NM_006946.4(SPTBN2):c.4445G>A (p.Arg1482Gln) rs769576700 0.00006
NM_006946.4(SPTBN2):c.4450C>T (p.Leu1484=) rs139883853 0.00006
NM_006946.4(SPTBN2):c.4479C>T (p.Phe1493=) rs781708778 0.00006
NM_006946.4(SPTBN2):c.5151G>T (p.Ala1717=) rs750383616 0.00006
NM_006946.4(SPTBN2):c.5413C>T (p.Arg1805Cys) rs373877632 0.00006
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp) rs755595060 0.00006
NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=) rs371535973 0.00006
NM_006946.4(SPTBN2):c.6755G>A (p.Arg2252His) rs529514462 0.00006
NM_006946.4(SPTBN2):c.6826G>A (p.Val2276Ile) rs368541668 0.00006
NM_006946.4(SPTBN2):c.1245C>A (p.Thr415=) rs146719338 0.00005
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His) rs767775507 0.00005
NM_006946.4(SPTBN2):c.1895C>T (p.Ala632Val) rs757932120 0.00005
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His) rs200016211 0.00005
NM_006946.4(SPTBN2):c.229C>T (p.Arg77Trp) rs200956071 0.00005
NM_006946.4(SPTBN2):c.2727C>T (p.Thr909=) rs373647590 0.00005
NM_006946.4(SPTBN2):c.3167G>A (p.Arg1056His) rs374715276 0.00005
NM_006946.4(SPTBN2):c.3823C>T (p.Arg1275Trp) rs148878156 0.00005
NM_006946.4(SPTBN2):c.3824G>A (p.Arg1275Gln) rs534938954 0.00005
NM_006946.4(SPTBN2):c.3832C>T (p.Arg1278Trp) rs373743022 0.00005
NM_006946.4(SPTBN2):c.4120G>A (p.Ala1374Thr) rs199675740 0.00005
NM_006946.4(SPTBN2):c.4783C>T (p.Arg1595Cys) rs549977438 0.00005
NM_006946.4(SPTBN2):c.5394C>T (p.Ala1798=) rs764744589 0.00005
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys) rs569905004 0.00005
NM_006946.4(SPTBN2):c.6280C>T (p.Arg2094Trp) rs368782432 0.00005
NM_006946.4(SPTBN2):c.6296C>A (p.Pro2099His) rs144563313 0.00005
NM_006946.4(SPTBN2):c.6386G>A (p.Arg2129Gln) rs777143650 0.00005
NM_006946.4(SPTBN2):c.1014C>T (p.Ser338=) rs138740917 0.00004
NM_006946.4(SPTBN2):c.1281C>T (p.Ala427=) rs374787500 0.00004
NM_006946.4(SPTBN2):c.1653+14G>A rs373412651 0.00004
NM_006946.4(SPTBN2):c.1838C>T (p.Ser613Leu) rs747019461 0.00004
NM_006946.4(SPTBN2):c.1906C>T (p.Arg636Trp) rs773155491 0.00004
NM_006946.4(SPTBN2):c.2208C>T (p.Ala736=) rs776575685 0.00004
NM_006946.4(SPTBN2):c.232G>A (p.Val78Met) rs149918123 0.00004
NM_006946.4(SPTBN2):c.2535G>A (p.Ala845=) rs754302613 0.00004
NM_006946.4(SPTBN2):c.261C>T (p.Asp87=) rs748129999 0.00004
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys) rs761263852 0.00004
NM_006946.4(SPTBN2):c.2729C>T (p.Ala910Val) rs532746761 0.00004
NM_006946.4(SPTBN2):c.3112G>A (p.Ala1038Thr) rs549918589 0.00004
NM_006946.4(SPTBN2):c.3298G>T (p.Ala1100Ser) rs375182533 0.00004
NM_006946.4(SPTBN2):c.342C>T (p.His114=) rs370442239 0.00004
NM_006946.4(SPTBN2):c.3795C>T (p.Asp1265=) rs141779130 0.00004
NM_006946.4(SPTBN2):c.4396G>A (p.Val1466Met) rs763193925 0.00004
NM_006946.4(SPTBN2):c.4448G>A (p.Arg1483His) rs371470159 0.00004
NM_006946.4(SPTBN2):c.4855-9T>A rs945895488 0.00004
NM_006946.4(SPTBN2):c.5060G>A (p.Arg1687Gln) rs763770499 0.00004
NM_006946.4(SPTBN2):c.5083C>T (p.Arg1695Trp) rs150270569 0.00004
NM_006946.4(SPTBN2):c.5314G>A (p.Val1772Met) rs200189497 0.00004
NM_006946.4(SPTBN2):c.5424C>T (p.His1808=) rs113551867 0.00004
NM_006946.4(SPTBN2):c.5522G>A (p.Arg1841Gln) rs778218574 0.00004
NM_006946.4(SPTBN2):c.5583C>T (p.Asp1861=) rs557448224 0.00004
NM_006946.4(SPTBN2):c.5696G>A (p.Arg1899His) rs201017398 0.00004
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His) rs145750214 0.00004
NM_006946.4(SPTBN2):c.6213G>A (p.Ala2071=) rs779482257 0.00004
NM_006946.4(SPTBN2):c.6250G>A (p.Glu2084Lys) rs145191943 0.00004
NM_006946.4(SPTBN2):c.6283C>T (p.Arg2095Trp) rs761960627 0.00004
NM_006946.4(SPTBN2):c.6470G>A (p.Arg2157Lys) rs376920607 0.00004
NM_006946.4(SPTBN2):c.6600C>T (p.Thr2200=) rs368974603 0.00004
NM_006946.4(SPTBN2):c.6745G>A (p.Val2249Ile) rs774816936 0.00004
NM_006946.4(SPTBN2):c.6752G>A (p.Arg2251Gln) rs763398880 0.00004
NM_006946.4(SPTBN2):c.6929C>T (p.Ala2310Val) rs749226138 0.00004
NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr) rs773129687 0.00004
NM_006946.4(SPTBN2):c.7006G>A (p.Glu2336Lys) rs765015336 0.00004
NM_006946.4(SPTBN2):c.7034C>A (p.Thr2345Asn) rs770261235 0.00004
NM_006946.4(SPTBN2):c.7052G>A (p.Arg2351Gln) rs367554726 0.00004
NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp) rs564046722 0.00004
NM_006946.4(SPTBN2):c.964G>A (p.Glu322Lys) rs759451802 0.00004
NM_006946.4(SPTBN2):c.1159C>T (p.Arg387Cys) rs1002318320 0.00003
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His) rs772590586 0.00003
NM_006946.4(SPTBN2):c.1303G>A (p.Ala435Thr) rs751975483 0.00003
NM_006946.4(SPTBN2):c.1524C>T (p.Asn508=) rs774837229 0.00003
NM_006946.4(SPTBN2):c.1768G>A (p.Val590Ile) rs780059779 0.00003
NM_006946.4(SPTBN2):c.1807+18G>T rs1051536154 0.00003
NM_006946.4(SPTBN2):c.1839G>A (p.Ser613=) rs774265056 0.00003
NM_006946.4(SPTBN2):c.1882G>A (p.Glu628Lys) rs1027470381 0.00003
NM_006946.4(SPTBN2):c.1900C>T (p.Arg634Trp) rs766236489 0.00003
NM_006946.4(SPTBN2):c.2331C>T (p.His777=) rs746800875 0.00003
NM_006946.4(SPTBN2):c.2817-8G>T rs142540439 0.00003
NM_006946.4(SPTBN2):c.3248G>A (p.Arg1083His) rs367949397 0.00003
NM_006946.4(SPTBN2):c.3318A>G (p.Gln1106=) rs576040719 0.00003
NM_006946.4(SPTBN2):c.3801G>A (p.Ala1267=) rs776179938 0.00003
NM_006946.4(SPTBN2):c.4920C>T (p.Tyr1640=) rs562923443 0.00003
NM_006946.4(SPTBN2):c.4971C>T (p.His1657=) rs758734822 0.00003
NM_006946.4(SPTBN2):c.5736C>G (p.Phe1912Leu) rs202247290 0.00003
NM_006946.4(SPTBN2):c.575+11C>T rs373469801 0.00003
NM_006946.4(SPTBN2):c.5826G>A (p.Ala1942=) rs373276784 0.00003
NM_006946.4(SPTBN2):c.5939C>A (p.Ala1980Glu) rs750934185 0.00003
NM_006946.4(SPTBN2):c.5983C>T (p.Arg1995Cys) rs374895441 0.00003
NM_006946.4(SPTBN2):c.6378C>T (p.Thr2126=) rs770472919 0.00003
NM_006946.4(SPTBN2):c.655C>T (p.Arg219Trp) rs770733211 0.00003
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=) rs778388054 0.00003
NM_006946.4(SPTBN2):c.6642G>A (p.Glu2214=) rs373673230 0.00003
NM_006946.4(SPTBN2):c.6796G>A (p.Ala2266Thr) rs138457770 0.00003
NM_006946.4(SPTBN2):c.945G>A (p.Ser315=) rs758056414 0.00003
NM_006946.4(SPTBN2):c.1201C>T (p.Arg401Trp) rs746994330 0.00002
NM_006946.4(SPTBN2):c.1266G>C (p.Lys422Asn) rs770892589 0.00002
NM_006946.4(SPTBN2):c.1501C>T (p.Arg501Cys) rs780836225 0.00002
NM_006946.4(SPTBN2):c.1844G>A (p.Arg615Gln) rs768742849 0.00002
NM_006946.4(SPTBN2):c.1929C>G (p.Leu643=) rs747355437 0.00002
NM_006946.4(SPTBN2):c.2444C>T (p.Pro815Leu) rs750520015 0.00002
NM_006946.4(SPTBN2):c.2463C>T (p.Pro821=) rs946307634 0.00002
NM_006946.4(SPTBN2):c.2679-13T>C rs746235555 0.00002
NM_006946.4(SPTBN2):c.3468G>A (p.Glu1156=) rs749647878 0.00002
NM_006946.4(SPTBN2):c.3717A>G (p.Val1239=) rs369017203 0.00002
NM_006946.4(SPTBN2):c.3844C>G (p.His1282Asp) rs778241858 0.00002
NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His) rs201852582 0.00002
NM_006946.4(SPTBN2):c.4330G>A (p.Ala1444Thr) rs765561071 0.00002
NM_006946.4(SPTBN2):c.4465G>A (p.Glu1489Lys) rs377750743 0.00002
NM_006946.4(SPTBN2):c.4554G>A (p.Lys1518=) rs773275271 0.00002
NM_006946.4(SPTBN2):c.4593+3G>A rs915452792 0.00002
NM_006946.4(SPTBN2):c.4644G>T (p.Arg1548Ser) rs1393713562 0.00002
NM_006946.4(SPTBN2):c.5066G>A (p.Arg1689His) rs764884402 0.00002
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys) rs754809056 0.00002
NM_006946.4(SPTBN2):c.5220C>T (p.Ser1740=) rs773962214 0.00002
NM_006946.4(SPTBN2):c.525G>A (p.Lys175=) rs745617041 0.00002
NM_006946.4(SPTBN2):c.5399C>T (p.Ala1800Val) rs367960697 0.00002
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys) rs149317715 0.00002
NM_006946.4(SPTBN2):c.5782C>T (p.Leu1928=) rs753810616 0.00002
NM_006946.4(SPTBN2):c.5901C>T (p.Ile1967=) rs200009167 0.00002
NM_006946.4(SPTBN2):c.5944G>A (p.Glu1982Lys) rs368916464 0.00002
NM_006946.4(SPTBN2):c.6063T>G (p.Asp2021Glu) rs748137168 0.00002
NM_006946.4(SPTBN2):c.6135C>T (p.Val2045=) rs751575277 0.00002
NM_006946.4(SPTBN2):c.6450+9A>G rs765623506 0.00002
NM_006946.4(SPTBN2):c.6501+14C>T rs775084048 0.00002
NM_006946.4(SPTBN2):c.6513A>C (p.Ser2171=) rs770250825 0.00002
NM_006946.4(SPTBN2):c.6535C>T (p.Arg2179Trp) rs764921928 0.00002
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) rs759206588 0.00002
NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His) rs201138924 0.00002
NM_006946.4(SPTBN2):c.6906T>C (p.Asp2302=) rs774217655 0.00002
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_006946.4(SPTBN2):c.704A>G (p.Tyr235Cys) rs748088213 0.00002
NM_006946.4(SPTBN2):c.7083C>T (p.Val2361=) rs200262256 0.00002
NM_006946.4(SPTBN2):c.7119C>T (p.Asp2373=) rs1213201129 0.00002
NM_006946.4(SPTBN2):c.971C>T (p.Thr324Met) rs766259767 0.00002
NM_006946.4(SPTBN2):c.1057G>A (p.Val353Met) rs1209084969 0.00001
NM_006946.4(SPTBN2):c.1073+4G>A rs539652266 0.00001
NM_006946.4(SPTBN2):c.1074-16C>T rs376361557 0.00001
NM_006946.4(SPTBN2):c.1129C>T (p.Arg377Trp) rs199861592 0.00001
NM_006946.4(SPTBN2):c.1155G>A (p.Thr385=) rs773673472 0.00001
NM_006946.4(SPTBN2):c.117G>A (p.Ser39=) rs142080780 0.00001
NM_006946.4(SPTBN2):c.1191+17A>G rs763505286 0.00001
NM_006946.4(SPTBN2):c.1192-5C>T rs910982125 0.00001
NM_006946.4(SPTBN2):c.1214C>T (p.Ala405Val) rs1226702717 0.00001
NM_006946.4(SPTBN2):c.1246G>A (p.Glu416Lys) rs747373105 0.00001
NM_006946.4(SPTBN2):c.1251C>T (p.Leu417=) rs764726747 0.00001
NM_006946.4(SPTBN2):c.1290C>T (p.Phe430=) rs538691061 0.00001
NM_006946.4(SPTBN2):c.1350+11A>C rs1243519992 0.00001
NM_006946.4(SPTBN2):c.1484G>A (p.Arg495His) rs769277232 0.00001
NM_006946.4(SPTBN2):c.1511C>G (p.Ala504Gly) rs1454805342 0.00001
NM_006946.4(SPTBN2):c.1563C>T (p.Ala521=) rs370685694 0.00001
NM_006946.4(SPTBN2):c.1571G>A (p.Arg524Gln) rs1478933802 0.00001
NM_006946.4(SPTBN2):c.1654-5G>A rs1483027342 0.00001
NM_006946.4(SPTBN2):c.1701G>A (p.Glu567=) rs1380619480 0.00001
NM_006946.4(SPTBN2):c.1753G>A (p.Glu585Lys) rs573639670 0.00001
NM_006946.4(SPTBN2):c.1786C>T (p.Arg596Cys) rs533645041 0.00001
NM_006946.4(SPTBN2):c.1836G>A (p.Val612=) rs770762674 0.00001
NM_006946.4(SPTBN2):c.1924C>T (p.Arg642Trp) rs781376193 0.00001
NM_006946.4(SPTBN2):c.1998A>G (p.Ser666=) rs750192032 0.00001
NM_006946.4(SPTBN2):c.2001C>T (p.Ala667=) rs767441529 0.00001
NM_006946.4(SPTBN2):c.2006C>T (p.Thr669Met) rs775522542 0.00001
NM_006946.4(SPTBN2):c.2059C>T (p.Arg687Trp) rs1411263285 0.00001
NM_006946.4(SPTBN2):c.2161C>T (p.Arg721Cys) rs757150924 0.00001
NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His) rs372938259 0.00001
NM_006946.4(SPTBN2):c.2224C>T (p.Arg742Trp) rs748547587 0.00001
NM_006946.4(SPTBN2):c.2383G>A (p.Glu795Lys) rs1387465998 0.00001
NM_006946.4(SPTBN2):c.2399G>A (p.Arg800Gln) rs144746828 0.00001
NM_006946.4(SPTBN2):c.2412C>T (p.Asp804=) rs770555771 0.00001
NM_006946.4(SPTBN2):c.2460G>A (p.Thr820=) rs776096922 0.00001
NM_006946.4(SPTBN2):c.2464G>A (p.Glu822Lys) rs771402351 0.00001
NM_006946.4(SPTBN2):c.2536C>T (p.Arg846Trp) rs766885350 0.00001
NM_006946.4(SPTBN2):c.2558C>T (p.Ala853Val) rs773989387 0.00001
NM_006946.4(SPTBN2):c.2602G>A (p.Val868Met) rs1424804035 0.00001
NM_006946.4(SPTBN2):c.2685G>A (p.Glu895=) rs758091474 0.00001
NM_006946.4(SPTBN2):c.2733G>C (p.Val911=) rs1298209002 0.00001
NM_006946.4(SPTBN2):c.2817-7C>G rs779776319 0.00001
NM_006946.4(SPTBN2):c.297G>A (p.Ser99=) rs762103483 0.00001
NM_006946.4(SPTBN2):c.2995C>T (p.Arg999Cys) rs775043786 0.00001
NM_006946.4(SPTBN2):c.3011C>T (p.Thr1004Met) rs746835288 0.00001
NM_006946.4(SPTBN2):c.3012G>A (p.Thr1004=) rs184505447 0.00001
NM_006946.4(SPTBN2):c.3022C>G (p.Leu1008Val) rs954882510 0.00001
NM_006946.4(SPTBN2):c.3037G>A (p.Ala1013Thr) rs148016656 0.00001
NM_006946.4(SPTBN2):c.3041G>A (p.Arg1014Gln) rs1005600223 0.00001
NM_006946.4(SPTBN2):c.3281C>T (p.Pro1094Leu) rs748499520 0.00001
NM_006946.4(SPTBN2):c.3355A>C (p.Ser1119Arg) rs760806416 0.00001
NM_006946.4(SPTBN2):c.3453A>G (p.Gly1151=) rs768932281 0.00001
NM_006946.4(SPTBN2):c.3517G>A (p.Gly1173Ser) rs372841640 0.00001
NM_006946.4(SPTBN2):c.3528A>T (p.Gly1176=) rs761875807 0.00001
NM_006946.4(SPTBN2):c.3607A>G (p.Thr1203Ala) rs1196577719 0.00001
NM_006946.4(SPTBN2):c.3667G>A (p.Ala1223Thr) rs765368981 0.00001
NM_006946.4(SPTBN2):c.3678A>G (p.Glu1226=) rs754224313 0.00001
NM_006946.4(SPTBN2):c.3736G>A (p.Ala1246Thr) rs138526888 0.00001
NM_006946.4(SPTBN2):c.3738C>T (p.Ala1246=) rs779091056 0.00001
NM_006946.4(SPTBN2):c.3830A>G (p.Asn1277Ser) rs746049954 0.00001
NM_006946.4(SPTBN2):c.3883G>A (p.Asp1295Asn) rs1449778004 0.00001
NM_006946.4(SPTBN2):c.3938A>C (p.His1313Pro) rs748517894 0.00001
NM_006946.4(SPTBN2):c.4065G>A (p.Ser1355=) rs1017072990 0.00001
NM_006946.4(SPTBN2):c.4098C>T (p.Asp1366=) rs368795514 0.00001
NM_006946.4(SPTBN2):c.4137C>G (p.Leu1379=) rs761964666 0.00001
NM_006946.4(SPTBN2):c.4180G>A (p.Ala1394Thr) rs775970942 0.00001
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_006946.4(SPTBN2):c.4360C>A (p.Gln1454Lys) rs761287825 0.00001
NM_006946.4(SPTBN2):c.4397T>C (p.Val1466Ala) rs148768325 0.00001
NM_006946.4(SPTBN2):c.4433G>A (p.Arg1478Gln) rs761295502 0.00001
NM_006946.4(SPTBN2):c.4560G>A (p.Leu1520=) rs775472534 0.00001
NM_006946.4(SPTBN2):c.4620T>C (p.His1540=) rs772520856 0.00001
NM_006946.4(SPTBN2):c.4648C>T (p.Arg1550Trp) rs757086442 0.00001
NM_006946.4(SPTBN2):c.4655G>A (p.Arg1552His) rs182094691 0.00001
NM_006946.4(SPTBN2):c.4702G>A (p.Glu1568Lys) rs769450868 0.00001
NM_006946.4(SPTBN2):c.4714C>T (p.Arg1572Cys) rs368125962 0.00001
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile) rs1328577241 0.00001
NM_006946.4(SPTBN2):c.4900G>C (p.Glu1634Gln) rs1053842135 0.00001
NM_006946.4(SPTBN2):c.4922C>T (p.Ala1641Val) rs376009552 0.00001
NM_006946.4(SPTBN2):c.4931T>C (p.Ile1644Thr) rs1372277094 0.00001
NM_006946.4(SPTBN2):c.4960A>G (p.Met1654Val) rs1258204858 0.00001
NM_006946.4(SPTBN2):c.4986-3C>T rs763710370 0.00001
NM_006946.4(SPTBN2):c.4986-5T>G rs1371679359 0.00001
NM_006946.4(SPTBN2):c.5003G>A (p.Arg1668His) rs746585059 0.00001
NM_006946.4(SPTBN2):c.5032G>A (p.Gly1678Ser) rs768814631 0.00001
NM_006946.4(SPTBN2):c.5064G>A (p.Glu1688=) rs794727404 0.00001
NM_006946.4(SPTBN2):c.507A>G (p.Thr169=) rs1168416493 0.00001
NM_006946.4(SPTBN2):c.5102G>A (p.Arg1701His) rs907900432 0.00001
NM_006946.4(SPTBN2):c.5138G>A (p.Arg1713His) rs753738305 0.00001
NM_006946.4(SPTBN2):c.5150C>T (p.Ala1717Val) rs376579703 0.00001
NM_006946.4(SPTBN2):c.5284A>G (p.Ile1762Val) rs569231673 0.00001
NM_006946.4(SPTBN2):c.5313C>T (p.Thr1771=) rs769523801 0.00001
NM_006946.4(SPTBN2):c.5319C>T (p.Ala1773=) rs780991267 0.00001
NM_006946.4(SPTBN2):c.5341G>A (p.Glu1781Lys) rs777756110 0.00001
NM_006946.4(SPTBN2):c.5505C>T (p.Ala1835=) rs368458475 0.00001
NM_006946.4(SPTBN2):c.5540A>G (p.His1847Arg) rs765894915 0.00001
NM_006946.4(SPTBN2):c.5591A>G (p.His1864Arg) rs780591556 0.00001
NM_006946.4(SPTBN2):c.5749C>T (p.Arg1917Trp) rs868609865 0.00001
NM_006946.4(SPTBN2):c.5811-8C>G rs1263966941 0.00001
NM_006946.4(SPTBN2):c.5846A>G (p.Gln1949Arg) rs1940417909 0.00001
NM_006946.4(SPTBN2):c.5875C>T (p.Arg1959Trp) rs774111091 0.00001
NM_006946.4(SPTBN2):c.5892C>T (p.Ser1964=) rs968815191 0.00001
NM_006946.4(SPTBN2):c.5978C>T (p.Ala1993Val) rs368415742 0.00001
NM_006946.4(SPTBN2):c.6109C>T (p.Arg2037Cys) rs200529832 0.00001
NM_006946.4(SPTBN2):c.6255A>G (p.Arg2085=) rs1202370651 0.00001
NM_006946.4(SPTBN2):c.6265A>T (p.Arg2089Trp) rs890981545 0.00001
NM_006946.4(SPTBN2):c.6293C>T (p.Pro2098Leu) rs571837788 0.00001
NM_006946.4(SPTBN2):c.6294G>A (p.Pro2098=) rs139653351 0.00001
NM_006946.4(SPTBN2):c.6343G>A (p.Gly2115Ser) rs200435710 0.00001
NM_006946.4(SPTBN2):c.6541G>A (p.Glu2181Lys) rs186129774 0.00001
NM_006946.4(SPTBN2):c.6547C>G (p.Gln2183Glu) rs760467359 0.00001
NM_006946.4(SPTBN2):c.6679C>T (p.Arg2227Cys) rs1057524207 0.00001
NM_006946.4(SPTBN2):c.6703G>A (p.Gly2235Arg) rs772594172 0.00001
NM_006946.4(SPTBN2):c.6720C>T (p.Asn2240=) rs754536144 0.00001
NM_006946.4(SPTBN2):c.6723-4G>A rs766376475 0.00001
NM_006946.4(SPTBN2):c.6723-5C>T rs537586567 0.00001
NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met) rs369469000 0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) rs750623875 0.00001
NM_006946.4(SPTBN2):c.6868C>A (p.Arg2290=) rs769316991 0.00001
NM_006946.4(SPTBN2):c.6962G>A (p.Arg2321Gln) rs757727990 0.00001
NM_006946.4(SPTBN2):c.6990G>A (p.Ala2330=) rs372297351 0.00001
NM_006946.4(SPTBN2):c.7030A>C (p.Ser2344Arg) rs148840695 0.00001
NM_006946.4(SPTBN2):c.72C>T (p.Asn24=) rs1168986724 0.00001
NM_006946.4(SPTBN2):c.752C>T (p.Thr251Ile) rs373650492 0.00001
NM_006946.4(SPTBN2):c.855C>A (p.Ala285=) rs373123134 0.00001
NM_006946.4(SPTBN2):c.913C>T (p.Arg305Cys) rs372293906 0.00001
NM_006946.4(SPTBN2):c.963C>T (p.Ile321=) rs1456985458 0.00001
NC_000011.9:g.(?_66453342)_(66456671_?)dup
NC_000011.9:g.(?_66472049)_(66473328_?)del
NM_006946.4(SPTBN2):c.1015G>A (p.Gly339Arg)
NM_006946.4(SPTBN2):c.1044C>T (p.Asn348=)
NM_006946.4(SPTBN2):c.1059G>A (p.Val353=) rs2135488623
NM_006946.4(SPTBN2):c.1073+112A>G rs114793940
NM_006946.4(SPTBN2):c.1073+12T>A
NM_006946.4(SPTBN2):c.1073+188del rs55908905
NM_006946.4(SPTBN2):c.1073A>G (p.Lys358Arg)
NM_006946.4(SPTBN2):c.1074-10C>G rs1451080394
NM_006946.4(SPTBN2):c.1074-176AAAAT[2] rs112826691
NM_006946.4(SPTBN2):c.1121G>T (p.Ser374Ile)
NM_006946.4(SPTBN2):c.1136A>G (p.Asn379Ser)
NM_006946.4(SPTBN2):c.1152C>T (p.Tyr384=)
NM_006946.4(SPTBN2):c.1154C>T (p.Thr385Met)
NM_006946.4(SPTBN2):c.1169G>T (p.Arg390Leu)
NM_006946.4(SPTBN2):c.1191+12C>G
NM_006946.4(SPTBN2):c.1191+12C>T
NM_006946.4(SPTBN2):c.1192-9A>C
NM_006946.4(SPTBN2):c.11C>A (p.Thr4Lys)
NM_006946.4(SPTBN2):c.1202G>A (p.Arg401Gln)
NM_006946.4(SPTBN2):c.1215G>A (p.Ala405=)
NM_006946.4(SPTBN2):c.1218G>C (p.Glu406Asp)
NM_006946.4(SPTBN2):c.121C>T (p.Arg41Cys)
NM_006946.4(SPTBN2):c.1225C>G (p.Arg409Gly)
NM_006946.4(SPTBN2):c.122G>A (p.Arg41His)
NM_006946.4(SPTBN2):c.1231C>A (p.Leu411Met)
NM_006946.4(SPTBN2):c.1239G>A (p.Leu413=)
NM_006946.4(SPTBN2):c.1245C>T (p.Thr415=)
NM_006946.4(SPTBN2):c.1256G>A (p.Arg419His)
NM_006946.4(SPTBN2):c.1261_1263del (p.Glu421del) rs886041245
NM_006946.4(SPTBN2):c.1294C>T (p.Arg432Cys)
NM_006946.4(SPTBN2):c.1295G>A (p.Arg432His)
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr) rs1554986345
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp) rs1941669517
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006946.4(SPTBN2):c.1326C>A (p.Ser442Arg)
NM_006946.4(SPTBN2):c.1326C>T (p.Ser442=)
NM_006946.4(SPTBN2):c.1341C>G (p.Leu447=)
NM_006946.4(SPTBN2):c.1341C>T (p.Leu447=)
NM_006946.4(SPTBN2):c.1342G>A (p.Val448Met)
NM_006946.4(SPTBN2):c.1351-12C>T
NM_006946.4(SPTBN2):c.1351-7G>A rs116078747
NM_006946.4(SPTBN2):c.1351-7G>T rs116078747
NM_006946.4(SPTBN2):c.1364T>C (p.Leu455Pro) rs2135468630
NM_006946.4(SPTBN2):c.1366G>A (p.Glu456Lys)
NM_006946.4(SPTBN2):c.1380C>T (p.Val460=)
NM_006946.4(SPTBN2):c.1393C>T (p.Arg465Trp)
NM_006946.4(SPTBN2):c.1415C>T (p.Thr472Met)
NM_006946.4(SPTBN2):c.1435G>A (p.Gly479Ser) rs1486743242
NM_006946.4(SPTBN2):c.1438C>G (p.Arg480Gly)
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_006946.4(SPTBN2):c.1444C>T (p.Gln482Ter) rs2135467951
NM_006946.4(SPTBN2):c.1447G>A (p.Ala483Thr)
NM_006946.4(SPTBN2):c.1455C>T (p.Asp485=)
NM_006946.4(SPTBN2):c.1458C>T (p.Ala486=)
NM_006946.4(SPTBN2):c.1472T>C (p.Leu491Pro)
NM_006946.4(SPTBN2):c.1491C>T (p.His497=)
NM_006946.4(SPTBN2):c.1506C>T (p.Ile502=)
NM_006946.4(SPTBN2):c.1510G>A (p.Ala504Thr)
NM_006946.4(SPTBN2):c.1513C>T (p.Arg505Trp) rs1474518395
NM_006946.4(SPTBN2):c.1540_1541delinsCTCTGGGT (p.Asp514delinsLeuTrpVal)
NM_006946.4(SPTBN2):c.1549C>T (p.Arg517Trp)
NM_006946.4(SPTBN2):c.1550G>A (p.Arg517Gln)
NM_006946.4(SPTBN2):c.1567C>T (p.Arg523Trp)
NM_006946.4(SPTBN2):c.1569G>A (p.Arg523=)
NM_006946.4(SPTBN2):c.158-1G>T
NM_006946.4(SPTBN2):c.158-8C>T rs768464832
NM_006946.4(SPTBN2):c.1580_1581delinsGG (p.Leu527Arg) rs2135466117
NM_006946.4(SPTBN2):c.1581C>A (p.Leu527=)
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del) rs1554985851
NM_006946.4(SPTBN2):c.1626C>T (p.Tyr542=)
NM_006946.4(SPTBN2):c.1642G>A (p.Glu548Lys)
NM_006946.4(SPTBN2):c.1647G>A (p.Glu549=) rs1590953093
NM_006946.4(SPTBN2):c.1662G>A (p.Leu554=)
NM_006946.4(SPTBN2):c.1700A>G (p.Glu567Gly)
NM_006946.4(SPTBN2):c.1740C>T (p.Ile580=)
NM_006946.4(SPTBN2):c.1807+18G>A rs1051536154
NM_006946.4(SPTBN2):c.1807+60G>A
NM_006946.4(SPTBN2):c.1808-11G>A
NM_006946.4(SPTBN2):c.1808-13G>A
NM_006946.4(SPTBN2):c.1812T>C (p.Tyr604=)
NM_006946.4(SPTBN2):c.1817C>T (p.Pro606Leu)
NM_006946.4(SPTBN2):c.181A>G (p.Lys61Glu) rs797046006
NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=) rs776570497
NM_006946.4(SPTBN2):c.183A>C (p.Lys61Asn)
NM_006946.4(SPTBN2):c.1845G>A (p.Arg615=)
NM_006946.4(SPTBN2):c.185C>A (p.Thr62Asn) rs2135526299
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_006946.4(SPTBN2):c.1878G>A (p.Leu626=)
NM_006946.4(SPTBN2):c.1896G>A (p.Ala632=)
NM_006946.4(SPTBN2):c.1897C>T (p.Arg633Trp)
NM_006946.4(SPTBN2):c.1898G>A (p.Arg633Gln)
NM_006946.4(SPTBN2):c.189C>G (p.Phe63Leu) rs2135526260
NM_006946.4(SPTBN2):c.18A>G (p.Ser6=) rs2135559572
NM_006946.4(SPTBN2):c.1901G>A (p.Arg634Gln)
NM_006946.4(SPTBN2):c.1903G>A (p.Ala635Thr)
NM_006946.4(SPTBN2):c.1907G>A (p.Arg636Gln)
NM_006946.4(SPTBN2):c.190A>G (p.Thr64Ala) rs769557138
NM_006946.4(SPTBN2):c.1924C>A (p.Arg642=)
NM_006946.4(SPTBN2):c.1949T>C (p.Val650Ala) rs1011637037
NM_006946.4(SPTBN2):c.2002G>A (p.Asp668Asn)
NM_006946.4(SPTBN2):c.2006C>G (p.Thr669Arg)
NM_006946.4(SPTBN2):c.2012G>A (p.Arg671Gln) rs1443491358
NM_006946.4(SPTBN2):c.2023G>C (p.Gly675Arg) rs776861052
NM_006946.4(SPTBN2):c.2031C>T (p.Leu677=)
NM_006946.4(SPTBN2):c.2050A>G (p.Thr684Ala) rs2135447991
NM_006946.4(SPTBN2):c.2060G>A (p.Arg687Gln)
NM_006946.4(SPTBN2):c.2090T>C (p.Leu697Pro)
NM_006946.4(SPTBN2):c.2127C>T (p.Ala709=)
NM_006946.4(SPTBN2):c.2134C>T (p.His712Tyr)
NM_006946.4(SPTBN2):c.2194C>A (p.Leu732Ile)
NM_006946.4(SPTBN2):c.2198A>T (p.Glu733Val)
NM_006946.4(SPTBN2):c.2237C>T (p.Ala746Val)
NM_006946.4(SPTBN2):c.224C>T (p.Thr75Met)
NM_006946.4(SPTBN2):c.2256C>T (p.Phe752=) rs780850736
NM_006946.4(SPTBN2):c.225G>A (p.Thr75=)
NM_006946.4(SPTBN2):c.2272G>T (p.Asp758Tyr) rs894025675
NM_006946.4(SPTBN2):c.2275A>T (p.Met759Leu)
NM_006946.4(SPTBN2):c.229C>G (p.Arg77Gly)
NM_006946.4(SPTBN2):c.2334C>T (p.Asp778=)
NM_006946.4(SPTBN2):c.2368C>T (p.Arg790Trp)
NM_006946.4(SPTBN2):c.2369G>A (p.Arg790Gln) rs750536532
NM_006946.4(SPTBN2):c.2398C>T (p.Arg800Trp)
NM_006946.4(SPTBN2):c.2413G>C (p.Ala805Pro)
NM_006946.4(SPTBN2):c.2441C>T (p.Pro814Leu)
NM_006946.4(SPTBN2):c.2445C>T (p.Pro815=) rs766115824
NM_006946.4(SPTBN2):c.2456_2457delinsAA (p.Arg819Gln)
NM_006946.4(SPTBN2):c.2459C>A (p.Thr820Lys)
NM_006946.4(SPTBN2):c.2480T>C (p.Val827Ala)
NM_006946.4(SPTBN2):c.2493G>A (p.Glu831=)
NM_006946.4(SPTBN2):c.2494C>T (p.Arg832Trp)
NM_006946.4(SPTBN2):c.2502C>T (p.Tyr834=)
NM_006946.4(SPTBN2):c.2503_2504delinsAG (p.Glu835Arg)
NM_006946.4(SPTBN2):c.2518C>T (p.Arg840Trp)
NM_006946.4(SPTBN2):c.2523A>G (p.Ala841=)
NM_006946.4(SPTBN2):c.2527G>A (p.Glu843Lys)
NM_006946.4(SPTBN2):c.2537G>A (p.Arg846Gln) rs1428439827
NM_006946.4(SPTBN2):c.2559G>A (p.Ala853=)
NM_006946.4(SPTBN2):c.2565C>T (p.Tyr855=)
NM_006946.4(SPTBN2):c.2581G>T (p.Ala861Ser)
NM_006946.4(SPTBN2):c.2583C>T (p.Ala861=)
NM_006946.4(SPTBN2):c.2605GAG[1] (p.Glu870del)
NM_006946.4(SPTBN2):c.2620T>C (p.Trp874Arg)
NM_006946.4(SPTBN2):c.2623C>T (p.Leu875Phe) rs906936058
NM_006946.4(SPTBN2):c.265C>T (p.Arg89Cys) rs1565151375
NM_006946.4(SPTBN2):c.2661G>C (p.Leu887=)
NM_006946.4(SPTBN2):c.2668G>A (p.Val890Met)
NM_006946.4(SPTBN2):c.266G>A (p.Arg89His) rs374485184
NM_006946.4(SPTBN2):c.266G>T (p.Arg89Leu)
NM_006946.4(SPTBN2):c.2678+50G>T rs3741359
NM_006946.4(SPTBN2):c.2679-149A>T
NM_006946.4(SPTBN2):c.2679-9C>T
NM_006946.4(SPTBN2):c.2702T>C (p.Met901Thr)
NM_006946.4(SPTBN2):c.2728G>A (p.Ala910Thr)
NM_006946.4(SPTBN2):c.2728G>T (p.Ala910Ser) rs766328275
NM_006946.4(SPTBN2):c.2733G>T (p.Val911=)
NM_006946.4(SPTBN2):c.2745C>T (p.Ala915=)
NM_006946.4(SPTBN2):c.2767C>A (p.Pro923Thr) rs778457729
NM_006946.4(SPTBN2):c.2768C>G (p.Pro923Arg)
NM_006946.4(SPTBN2):c.2771C>A (p.Pro924Gln) rs147327184
NM_006946.4(SPTBN2):c.2771C>T (p.Pro924Leu)
NM_006946.4(SPTBN2):c.2776A>G (p.Lys926Glu) rs1941251545
NM_006946.4(SPTBN2):c.2779G>T (p.Asp927Tyr) rs766125112
NM_006946.4(SPTBN2):c.2783G>A (p.Arg928His)
NM_006946.4(SPTBN2):c.2794A>G (p.Thr932Ala)
NM_006946.4(SPTBN2):c.2807T>C (p.Leu936Pro) rs2135418994
NM_006946.4(SPTBN2):c.2817-13C>T
NM_006946.4(SPTBN2):c.2831G>A (p.Arg944Gln)
NM_006946.4(SPTBN2):c.2844C>A (p.Asp948Glu)
NM_006946.4(SPTBN2):c.2895dup (p.Glu966fs) rs1554982890
NM_006946.4(SPTBN2):c.2951C>A (p.Thr984Asn) rs1941221838
NM_006946.4(SPTBN2):c.2955G>A (p.Gln985=) rs1941221540
NM_006946.4(SPTBN2):c.2968G>T (p.Asp990Tyr)
NM_006946.4(SPTBN2):c.2997C>T (p.Arg999=)
NM_006946.4(SPTBN2):c.3040C>T (p.Arg1014Trp)
NM_006946.4(SPTBN2):c.3046G>A (p.Gly1016Ser)
NM_006946.4(SPTBN2):c.3051A>G (p.Glu1017=)
NM_006946.4(SPTBN2):c.3057T>A (p.Thr1019=) rs141552726
NM_006946.4(SPTBN2):c.3079G>T (p.Ala1027Ser)
NM_006946.4(SPTBN2):c.3082G>A (p.Gly1028Ser)
NM_006946.4(SPTBN2):c.309+36T>C rs12805133
NM_006946.4(SPTBN2):c.3091G>A (p.Ala1031Thr)
NM_006946.4(SPTBN2):c.3091G>T (p.Ala1031Ser)
NM_006946.4(SPTBN2):c.3099A>G (p.Ala1033=) rs112739946
NM_006946.4(SPTBN2):c.310-3C>T rs1942089988
NM_006946.4(SPTBN2):c.3115C>T (p.Arg1039Trp)
NM_006946.4(SPTBN2):c.3136G>A (p.Gly1046Ser)
NM_006946.4(SPTBN2):c.3150C>T (p.Leu1050=)
NM_006946.4(SPTBN2):c.3163C>A (p.Arg1055=) rs138022806
NM_006946.4(SPTBN2):c.3166C>T (p.Arg1056Cys)
NM_006946.4(SPTBN2):c.3174A>G (p.Glu1058=) rs1590936888
NM_006946.4(SPTBN2):c.3179C>T (p.Ser1060Leu)
NM_006946.4(SPTBN2):c.3186G>A (p.Gly1062=)
NM_006946.4(SPTBN2):c.3192G>A (p.Ala1064=)
NM_006946.4(SPTBN2):c.3235G>C (p.Ala1079Pro) rs1162803458
NM_006946.4(SPTBN2):c.3247C>T (p.Arg1083Cys)
NM_006946.4(SPTBN2):c.3263T>A (p.Val1088Glu)
NM_006946.4(SPTBN2):c.3279G>A (p.Gly1093=)
NM_006946.4(SPTBN2):c.3288C>A (p.Thr1096=)
NM_006946.4(SPTBN2):c.3291G>A (p.Leu1097=)
NM_006946.4(SPTBN2):c.3301G>T (p.Glu1101Ter)
NM_006946.4(SPTBN2):c.3332G>C (p.Arg1111Pro) rs763945497
NM_006946.4(SPTBN2):c.3358G>A (p.Glu1120Lys)
NM_006946.4(SPTBN2):c.3367C>T (p.Arg1123Trp)
NM_006946.4(SPTBN2):c.3385G>A (p.Glu1129Lys)
NM_006946.4(SPTBN2):c.3398G>A (p.Arg1133Gln)
NM_006946.4(SPTBN2):c.3404A>C (p.Gln1135Pro) rs751211496
NM_006946.4(SPTBN2):c.3423C>G (p.Leu1141=) rs1941187600
NM_006946.4(SPTBN2):c.3453A>T (p.Gly1151=) rs768932281
NM_006946.4(SPTBN2):c.3492G>T (p.Arg1164=)
NM_006946.4(SPTBN2):c.3494A>G (p.Gln1165Arg)
NM_006946.4(SPTBN2):c.3499C>T (p.Arg1167Cys)
NM_006946.4(SPTBN2):c.3514C>T (p.His1172Tyr)
NM_006946.4(SPTBN2):c.3545G>A (p.Arg1182His)
NM_006946.4(SPTBN2):c.3558C>T (p.Gly1186=)
NM_006946.4(SPTBN2):c.3559G>A (p.Val1187Met) rs369739429
NM_006946.4(SPTBN2):c.3573+10dup
NM_006946.4(SPTBN2):c.3573+14G>A
NM_006946.4(SPTBN2):c.3574-8C>G
NM_006946.4(SPTBN2):c.3583C>A (p.Leu1195Met)
NM_006946.4(SPTBN2):c.3602C>G (p.Pro1201Arg)
NM_006946.4(SPTBN2):c.3610C>T (p.Leu1204Phe)
NM_006946.4(SPTBN2):c.3616G>A (p.Ala1206Thr)
NM_006946.4(SPTBN2):c.3626C>T (p.Ala1209Val) rs778424143
NM_006946.4(SPTBN2):c.3652A>G (p.Met1218Val)
NM_006946.4(SPTBN2):c.3679C>T (p.Arg1227Trp)
NM_006946.4(SPTBN2):c.3688G>A (p.Gly1230Arg)
NM_006946.4(SPTBN2):c.3719C>T (p.Ser1240Phe)
NM_006946.4(SPTBN2):c.3724G>A (p.Gly1242Ser)
NM_006946.4(SPTBN2):c.3731T>G (p.Ile1244Ser) rs1565126661
NM_006946.4(SPTBN2):c.3735C>T (p.His1245=)
NM_006946.4(SPTBN2):c.3791_3792del (p.Gln1264fs) rs786205617
NM_006946.4(SPTBN2):c.3796G>T (p.Ala1266Ser)
NM_006946.4(SPTBN2):c.3801G>C (p.Ala1267=) rs776179938
NM_006946.4(SPTBN2):c.3803A>G (p.Gln1268Arg)
NM_006946.4(SPTBN2):c.3817C>T (p.Arg1273Cys)
NM_006946.4(SPTBN2):c.3818G>A (p.Arg1273His)
NM_006946.4(SPTBN2):c.3845A>G (p.His1282Arg)
NM_006946.4(SPTBN2):c.3850C>T (p.Leu1284=) rs2135399480
NM_006946.4(SPTBN2):c.3854A>G (p.Gln1285Arg)
NM_006946.4(SPTBN2):c.3858T>C (p.Asp1286=)
NM_006946.4(SPTBN2):c.3858T>G (p.Asp1286Glu)
NM_006946.4(SPTBN2):c.3867+20C>T
NM_006946.4(SPTBN2):c.3869T>G (p.Leu1290Arg) rs1085307915
NM_006946.4(SPTBN2):c.3882C>T (p.Ile1294=)
NM_006946.4(SPTBN2):c.3921C>T (p.Asp1307=)
NM_006946.4(SPTBN2):c.3924G>A (p.Glu1308=)
NM_006946.4(SPTBN2):c.3928C>T (p.Arg1310Cys)
NM_006946.4(SPTBN2):c.3939_3950del (p.His1313_Trp1316del) rs1590931758
NM_006946.4(SPTBN2):c.3979G>A (p.Ala1327Thr) rs2135397129
NM_006946.4(SPTBN2):c.3987C>T (p.Asn1329=)
NM_006946.4(SPTBN2):c.399G>A (p.Leu133=)
NM_006946.4(SPTBN2):c.4014+16G>A
NM_006946.4(SPTBN2):c.4014+3G>A
NM_006946.4(SPTBN2):c.4014+6C>T
NM_006946.4(SPTBN2):c.4014+7A>G
NM_006946.4(SPTBN2):c.4015-12C>T rs1940925070
NM_006946.4(SPTBN2):c.4015-7C>T
NM_006946.4(SPTBN2):c.4033C>T (p.Leu1345Phe)
NM_006946.4(SPTBN2):c.4049T>A (p.Leu1350Gln)
NM_006946.4(SPTBN2):c.4054G>A (p.Ala1352Thr)
NM_006946.4(SPTBN2):c.4054G>T (p.Ala1352Ser)
NM_006946.4(SPTBN2):c.4064C>T (p.Ser1355Leu)
NM_006946.4(SPTBN2):c.4070A>G (p.Lys1357Arg)
NM_006946.4(SPTBN2):c.4082T>G (p.Leu1361Arg)
NM_006946.4(SPTBN2):c.4086C>G (p.His1362Gln)
NM_006946.4(SPTBN2):c.4092C>T (p.Arg1364=)
NM_006946.4(SPTBN2):c.411C>G (p.Gly137=)
NM_006946.4(SPTBN2):c.4126G>T (p.Ala1376Ser)
NM_006946.4(SPTBN2):c.4151G>A (p.Arg1384Gln)
NM_006946.4(SPTBN2):c.4165G>T (p.Ala1389Ser)
NM_006946.4(SPTBN2):c.4224G>A (p.Ser1408=)
NM_006946.4(SPTBN2):c.4233C>A (p.Tyr1411Ter)
NM_006946.4(SPTBN2):c.4251C>T (p.Ser1417=)
NM_006946.4(SPTBN2):c.4252G>A (p.Val1418Ile)
NM_006946.4(SPTBN2):c.4278+5G>C rs2135382326
NM_006946.4(SPTBN2):c.4279-10C>T
NM_006946.4(SPTBN2):c.4295T>C (p.Met1432Thr)
NM_006946.4(SPTBN2):c.429C>T (p.Asp143=)
NM_006946.4(SPTBN2):c.430G>A (p.Gly144Arg)
NM_006946.4(SPTBN2):c.4375G>A (p.Val1459Met)
NM_006946.4(SPTBN2):c.4388C>G (p.Ser1463Trp)
NM_006946.4(SPTBN2):c.4389G>C (p.Ser1463=)
NM_006946.4(SPTBN2):c.4390A>G (p.Arg1464Gly)
NM_006946.4(SPTBN2):c.4395C>T (p.Ala1465=)
NM_006946.4(SPTBN2):c.4405_4406inv (p.Lys1469Leu)
NM_006946.4(SPTBN2):c.4445G>T (p.Arg1482Leu)
NM_006946.4(SPTBN2):c.4462C>T (p.Arg1488Cys) rs2135367650
NM_006946.4(SPTBN2):c.4467G>A (p.Glu1489=) rs1462220071
NM_006946.4(SPTBN2):c.4476G>A (p.Gln1492=)
NM_006946.4(SPTBN2):c.4486G>A (p.Asp1496Asn)
NM_006946.4(SPTBN2):c.4486G>C (p.Asp1496His)
NM_006946.4(SPTBN2):c.4495G>C (p.Asp1499His) rs1064795665
NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val) rs1940755126
NM_006946.4(SPTBN2):c.4504-18C>T
NM_006946.4(SPTBN2):c.4514C>T (p.Thr1505Ile)
NM_006946.4(SPTBN2):c.4520G>A (p.Arg1507Gln) rs764921528
NM_006946.4(SPTBN2):c.4527C>G (p.Pro1509=) rs2135364761
NM_006946.4(SPTBN2):c.4535G>A (p.Ser1512Asn)
NM_006946.4(SPTBN2):c.4539C>T (p.Ser1513=) rs572124467
NM_006946.4(SPTBN2):c.4545G>A (p.Glu1515=)
NM_006946.4(SPTBN2):c.4547A>G (p.His1516Arg)
NM_006946.4(SPTBN2):c.4558C>G (p.Leu1520Val) rs767617743
NM_006946.4(SPTBN2):c.4566C>A (p.Ser1522Arg)
NM_006946.4(SPTBN2):c.4566C>T (p.Ser1522=) rs149464236
NM_006946.4(SPTBN2):c.4581GAA[1] (p.Lys1529del) rs1473724229
NM_006946.4(SPTBN2):c.4605A>G (p.Lys1535=)
NM_006946.4(SPTBN2):c.4633G>A (p.Ala1545Thr)
NM_006946.4(SPTBN2):c.4643G>T (p.Arg1548Met)
NM_006946.4(SPTBN2):c.4654C>T (p.Arg1552Cys)
NM_006946.4(SPTBN2):c.4667C>T (p.Ala1556Val)
NM_006946.4(SPTBN2):c.466A>G (p.Ile156Val)
NM_006946.4(SPTBN2):c.469A>T (p.Ile157Phe) rs2135521053
NM_006946.4(SPTBN2):c.4715G>A (p.Arg1572His)
NM_006946.4(SPTBN2):c.4756G>C (p.Asp1586His) rs2135359300
NM_006946.4(SPTBN2):c.4773G>A (p.Gln1591=)
NM_006946.4(SPTBN2):c.4779C>A (p.Phe1593Leu)
NM_006946.4(SPTBN2):c.4782C>T (p.Tyr1594=) rs887943856
NM_006946.4(SPTBN2):c.4784G>A (p.Arg1595His)
NM_006946.4(SPTBN2):c.4786G>T (p.Asp1596Tyr)
NM_006946.4(SPTBN2):c.4801_4816del (p.Glu1601fs)
NM_006946.4(SPTBN2):c.4821G>C (p.Gln1607His)
NM_006946.4(SPTBN2):c.484-17GCTT[3]
NM_006946.4(SPTBN2):c.4851C>T (p.Ala1617=)
NM_006946.4(SPTBN2):c.4854+18G>A rs2135357893
NM_006946.4(SPTBN2):c.4900G>A (p.Glu1634Lys) rs1053842135
NM_006946.4(SPTBN2):c.4907C>T (p.Ala1636Val) rs1484351160
NM_006946.4(SPTBN2):c.4923G>A (p.Ala1641=)
NM_006946.4(SPTBN2):c.4935C>G (p.His1645Gln)
NM_006946.4(SPTBN2):c.4944G>A (p.Ala1648=) rs371267330
NM_006946.4(SPTBN2):c.4944G>C (p.Ala1648=)
NM_006946.4(SPTBN2):c.4956G>A (p.Gln1652=)
NM_006946.4(SPTBN2):c.4961T>C (p.Met1654Thr)
NM_006946.4(SPTBN2):c.4980A>G (p.Pro1660=)
NM_006946.4(SPTBN2):c.4985+19C>T
NM_006946.4(SPTBN2):c.4985G>A (p.Ser1662Asn)
NM_006946.4(SPTBN2):c.4986-2A>C rs1450514987
NM_006946.4(SPTBN2):c.4994T>C (p.Ile1665Thr)
NM_006946.4(SPTBN2):c.4999A>G (p.Ile1667Val)
NM_006946.4(SPTBN2):c.5000T>G (p.Ile1667Ser)
NM_006946.4(SPTBN2):c.5016G>A (p.Val1672=)
NM_006946.4(SPTBN2):c.5018A>T (p.Asp1673Val)
NM_006946.4(SPTBN2):c.5042A>G (p.Glu1681Gly) rs756510588
NM_006946.4(SPTBN2):c.504G>A (p.Glu168=)
NM_006946.4(SPTBN2):c.5056C>T (p.Arg1686Trp) rs368373337
NM_006946.4(SPTBN2):c.5057G>A (p.Arg1686Gln)
NM_006946.4(SPTBN2):c.5059C>T (p.Arg1687Trp)
NM_006946.4(SPTBN2):c.5084G>A (p.Arg1695Gln)
NM_006946.4(SPTBN2):c.5090G>A (p.Cys1697Tyr) rs1161277822
NM_006946.4(SPTBN2):c.5094G>C (p.Gln1698His)
NM_006946.4(SPTBN2):c.5103C>T (p.Arg1701=)
NM_006946.4(SPTBN2):c.5110G>C (p.Asp1704His)
NM_006946.4(SPTBN2):c.5114A>T (p.Asp1705Val)
NM_006946.4(SPTBN2):c.5115C>T (p.Asp1705=)
NM_006946.4(SPTBN2):c.5135A>G (p.Glu1712Gly)
NM_006946.4(SPTBN2):c.5160C>A (p.His1720Gln)
NM_006946.4(SPTBN2):c.5160C>G (p.His1720Gln)
NM_006946.4(SPTBN2):c.5166G>T (p.Leu1722=)
NM_006946.4(SPTBN2):c.5179G>A (p.Glu1727Lys)
NM_006946.4(SPTBN2):c.5190+16_5190+17insA
NM_006946.4(SPTBN2):c.5190+6T>C
NM_006946.4(SPTBN2):c.5191-192_5191-189del rs111691419
NM_006946.4(SPTBN2):c.5202C>G (p.Asp1734Glu)
NM_006946.4(SPTBN2):c.5210G>A (p.Arg1737Gln)
NM_006946.4(SPTBN2):c.5221C>T (p.Arg1741Trp)
NM_006946.4(SPTBN2):c.523A>G (p.Lys175Glu)
NM_006946.4(SPTBN2):c.5250C>T (p.Arg1750=)
NM_006946.4(SPTBN2):c.5259C>T (p.Ser1753=)
NM_006946.4(SPTBN2):c.5264A>G (p.Asn1755Ser)
NM_006946.4(SPTBN2):c.5265T>C (p.Asn1755=)
NM_006946.4(SPTBN2):c.5276A>G (p.Asn1759Ser)
NM_006946.4(SPTBN2):c.5305C>A (p.Arg1769=) rs146455382
NM_006946.4(SPTBN2):c.5305C>G (p.Arg1769Gly)
NM_006946.4(SPTBN2):c.5305C>T (p.Arg1769Trp)
NM_006946.4(SPTBN2):c.5308G>A (p.Ala1770Thr) rs372114770
NM_006946.4(SPTBN2):c.530C>T (p.Ser177Leu)
NM_006946.4(SPTBN2):c.5320G>A (p.Glu1774Lys)
NM_006946.4(SPTBN2):c.532G>A (p.Ala178Thr) rs1057524761
NM_006946.4(SPTBN2):c.5339_5340inv (p.Asn1780Ser)
NM_006946.4(SPTBN2):c.5344G>A (p.Ala1782Thr)
NM_006946.4(SPTBN2):c.5352dup (p.Asp1785Ter) rs2135342205
NM_006946.4(SPTBN2):c.5356C>G (p.Leu1786Val)
NM_006946.4(SPTBN2):c.5359C>T (p.Leu1787Phe)
NM_006946.4(SPTBN2):c.5360T>C (p.Leu1787Pro)
NM_006946.4(SPTBN2):c.5377C>G (p.Arg1793Gly) rs1314673381
NM_006946.4(SPTBN2):c.5378G>A (p.Arg1793Gln)
NM_006946.4(SPTBN2):c.5380G>T (p.Gly1794Cys)
NM_006946.4(SPTBN2):c.5381G>A (p.Gly1794Asp) rs1940543119
NM_006946.4(SPTBN2):c.5400G>A (p.Ala1800=)
NM_006946.4(SPTBN2):c.5403C>T (p.Tyr1801=)
NM_006946.4(SPTBN2):c.5414G>A (p.Arg1805His) rs1222870637
NM_006946.4(SPTBN2):c.541G>A (p.Ala181Thr)
NM_006946.4(SPTBN2):c.5432G>A (p.Arg1811His)
NM_006946.4(SPTBN2):c.5459AGC[5] (p.Gln1823dup) rs1940534700
NM_006946.4(SPTBN2):c.5475G>T (p.Pro1825=) rs34806527
NM_006946.4(SPTBN2):c.5499C>T (p.Asn1833=)
NM_006946.4(SPTBN2):c.54G>T (p.Gln18His)
NM_006946.4(SPTBN2):c.5515C>T (p.Gln1839Ter) rs1166383301
NM_006946.4(SPTBN2):c.5527T>G (p.Cys1843Gly)
NM_006946.4(SPTBN2):c.5565+5G>C
NM_006946.4(SPTBN2):c.5565+8C>G
NM_006946.4(SPTBN2):c.5566-13C>T
NM_006946.4(SPTBN2):c.5566-16A>C
NM_006946.4(SPTBN2):c.5566-4G>A
NM_006946.4(SPTBN2):c.5566-5C>T
NM_006946.4(SPTBN2):c.5577G>A (p.Val1859=)
NM_006946.4(SPTBN2):c.5622G>T (p.Lys1874Asn) rs1427473228
NM_006946.4(SPTBN2):c.5624C>G (p.Ala1875Gly) rs2135330740
NM_006946.4(SPTBN2):c.5630dup (p.Ile1878fs)
NM_006946.4(SPTBN2):c.5635G>A (p.Gly1879Ser)
NM_006946.4(SPTBN2):c.5644A>G (p.Met1882Val) rs2135330577
NM_006946.4(SPTBN2):c.5645T>C (p.Met1882Thr)
NM_006946.4(SPTBN2):c.5652C>A (p.Ala1884=)
NM_006946.4(SPTBN2):c.5652C>T (p.Ala1884=)
NM_006946.4(SPTBN2):c.5653G>A (p.Val1885Met)
NM_006946.4(SPTBN2):c.5659G>A (p.Glu1887Lys)
NM_006946.4(SPTBN2):c.5662G>A (p.Ala1888Thr)
NM_006946.4(SPTBN2):c.5681G>A (p.Gly1894Glu) rs148293687
NM_006946.4(SPTBN2):c.5681G>T (p.Gly1894Val)
NM_006946.4(SPTBN2):c.5688T>C (p.Ser1896=)
NM_006946.4(SPTBN2):c.5695C>T (p.Arg1899Cys)
NM_006946.4(SPTBN2):c.5698C>T (p.Arg1900Trp)
NM_006946.4(SPTBN2):c.5704C>T (p.Leu1902=)
NM_006946.4(SPTBN2):c.5712G>T (p.Leu1904=)
NM_006946.4(SPTBN2):c.5718C>T (p.Thr1906=)
NM_006946.4(SPTBN2):c.5730C>G (p.Phe1910Leu)
NM_006946.4(SPTBN2):c.5732G>A (p.Arg1911His)
NM_006946.4(SPTBN2):c.5734T>C (p.Phe1912Leu)
NM_006946.4(SPTBN2):c.575+7A>C
NM_006946.4(SPTBN2):c.575+7_575+8insAGTGC
NM_006946.4(SPTBN2):c.5780A>G (p.Asn1927Ser)
NM_006946.4(SPTBN2):c.5809C>T (p.Arg1937Trp)
NM_006946.4(SPTBN2):c.5811-10C>T
NM_006946.4(SPTBN2):c.5811-3dup
NM_006946.4(SPTBN2):c.5811-5C>T
NM_006946.4(SPTBN2):c.5811-8C>T rs1263966941
NM_006946.4(SPTBN2):c.5821T>C (p.Ser1941Pro)
NM_006946.4(SPTBN2):c.5825C>T (p.Ala1942Val)
NM_006946.4(SPTBN2):c.5827G>A (p.Asp1943Asn)
NM_006946.4(SPTBN2):c.584_585inv (p.Asn195Ser)
NM_006946.4(SPTBN2):c.5867T>C (p.Ile1956Thr)
NM_006946.4(SPTBN2):c.5876G>C (p.Arg1959Pro)
NM_006946.4(SPTBN2):c.5899A>G (p.Ile1967Val)
NM_006946.4(SPTBN2):c.5902G>A (p.Asp1968Asn)
NM_006946.4(SPTBN2):c.5905A>G (p.Met1969Val)
NM_006946.4(SPTBN2):c.5906T>C (p.Met1969Thr)
NM_006946.4(SPTBN2):c.5925C>G (p.Ala1975=) rs1940411398
NM_006946.4(SPTBN2):c.5936A>G (p.Tyr1979Cys)
NM_006946.4(SPTBN2):c.5943C>A (p.Ala1981=)
NM_006946.4(SPTBN2):c.5949+7G>A rs1334736609
NM_006946.4(SPTBN2):c.5950-103GAAA[3] rs140939152
NM_006946.4(SPTBN2):c.5950-2A>C rs1940361841
NM_006946.4(SPTBN2):c.5961G>A (p.Lys1987=)
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs) rs1590911156
NM_006946.4(SPTBN2):c.5993C>T (p.Thr1998Ile)
NM_006946.4(SPTBN2):c.6034+1G>A
NM_006946.4(SPTBN2):c.6035-11G>A
NM_006946.4(SPTBN2):c.6069G>T (p.Gly2023=)
NM_006946.4(SPTBN2):c.6111C>T (p.Arg2037=)
NM_006946.4(SPTBN2):c.6115G>A (p.Ala2039Thr)
NM_006946.4(SPTBN2):c.611G>C (p.Ser204Thr)
NM_006946.4(SPTBN2):c.6123G>A (p.Leu2041=)
NM_006946.4(SPTBN2):c.612C>T (p.Ser204=)
NM_006946.4(SPTBN2):c.6131C>T (p.Thr2044Met)
NM_006946.4(SPTBN2):c.6160C>T (p.Arg2054Trp)
NM_006946.4(SPTBN2):c.6166G>A (p.Glu2056Lys)
NM_006946.4(SPTBN2):c.6177G>C (p.Gln2059His)
NM_006946.4(SPTBN2):c.6182CAG[1] (p.Ala2062del)
NM_006946.4(SPTBN2):c.6209G>C (p.Cys2070Ser)
NM_006946.4(SPTBN2):c.6213G>C (p.Ala2071=) rs779482257
NM_006946.4(SPTBN2):c.6213G>T (p.Ala2071=)
NM_006946.4(SPTBN2):c.621T>C (p.Asp207=)
NM_006946.4(SPTBN2):c.6226A>G (p.Thr2076Ala)
NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)
NM_006946.4(SPTBN2):c.6231+3del
NM_006946.4(SPTBN2):c.6232-14G>T
NM_006946.4(SPTBN2):c.6232-14_6232-12del rs1276673306
NM_006946.4(SPTBN2):c.6232-39C>T
NM_006946.4(SPTBN2):c.6241C>A (p.Arg2081=)
NM_006946.4(SPTBN2):c.6255AAAGAG[1] (p.2086KR[1])
NM_006946.4(SPTBN2):c.6257A>G (p.Lys2086Arg)
NM_006946.4(SPTBN2):c.6263A>G (p.Lys2088Arg)
NM_006946.4(SPTBN2):c.6268G>A (p.Glu2090Lys)
NM_006946.4(SPTBN2):c.6268GAG[3] (p.Glu2093del) rs752950222
NM_006946.4(SPTBN2):c.6273G>A (p.Glu2091=)
NM_006946.4(SPTBN2):c.6274G>A (p.Glu2092Lys)
NM_006946.4(SPTBN2):c.6284G>A (p.Arg2095Gln)
NM_006946.4(SPTBN2):c.6295C>T (p.Pro2099Ser) rs2135309758
NM_006946.4(SPTBN2):c.6304G>A (p.Glu2102Lys)
NM_006946.4(SPTBN2):c.6314C>T (p.Ala2105Val) rs2135309500
NM_006946.4(SPTBN2):c.6352G>A (p.Ala2118Thr) rs1940274862
NM_006946.4(SPTBN2):c.6357T>C (p.Ser2119=)
NM_006946.4(SPTBN2):c.6365C>T (p.Thr2122Ile)
NM_006946.4(SPTBN2):c.6372C>A (p.Asp2124Glu)
NM_006946.4(SPTBN2):c.6374+19G>C
NM_006946.4(SPTBN2):c.6374+20G>T
NM_006946.4(SPTBN2):c.6374+7G>A
NM_006946.4(SPTBN2):c.6391C>G (p.Pro2131Ala)
NM_006946.4(SPTBN2):c.6391C>T (p.Pro2131Ser)
NM_006946.4(SPTBN2):c.6394C>T (p.Pro2132Ser)
NM_006946.4(SPTBN2):c.639C>T (p.Ala213=)
NM_006946.4(SPTBN2):c.6450+6C>T
NM_006946.4(SPTBN2):c.6460G>A (p.Gly2154Arg) rs1309310010
NM_006946.4(SPTBN2):c.6468G>C (p.Gln2156His)
NM_006946.4(SPTBN2):c.6492C>T (p.Pro2164=)
NM_006946.4(SPTBN2):c.6493G>A (p.Glu2165Lys)
NM_006946.4(SPTBN2):c.6501+14dup
NM_006946.4(SPTBN2):c.6501+18T>C
NM_006946.4(SPTBN2):c.6502-5C>A
NM_006946.4(SPTBN2):c.6502-5C>T rs549378554
NM_006946.4(SPTBN2):c.6527A>G (p.Asn2176Ser)
NM_006946.4(SPTBN2):c.656+13G>A rs1457051378
NM_006946.4(SPTBN2):c.656+8G>A
NM_006946.4(SPTBN2):c.6567G>A (p.Pro2189=)
NM_006946.4(SPTBN2):c.657-10C>G
NM_006946.4(SPTBN2):c.657-5C>G
NM_006946.4(SPTBN2):c.657-70G>A
NM_006946.4(SPTBN2):c.6580A>G (p.Met2194Val) rs2135301519
NM_006946.4(SPTBN2):c.658C>A (p.Pro220Thr)
NM_006946.4(SPTBN2):c.6601G>A (p.Glu2201Lys) rs1256781556
NM_006946.4(SPTBN2):c.6620C>T (p.Thr2207Ile) rs1311464400
NM_006946.4(SPTBN2):c.6627G>A (p.Pro2209=)
NM_006946.4(SPTBN2):c.6650C>T (p.Ala2217Val)
NM_006946.4(SPTBN2):c.6655G>C (p.Glu2219Gln)
NM_006946.4(SPTBN2):c.6657G>A (p.Glu2219=)
NM_006946.4(SPTBN2):c.6671T>A (p.Met2224Lys)
NM_006946.4(SPTBN2):c.6675G>A (p.Leu2225=)
NM_006946.4(SPTBN2):c.6680G>A (p.Arg2227His)
NM_006946.4(SPTBN2):c.6722+1G>T
NM_006946.4(SPTBN2):c.6723-13G>A
NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=) rs750664912
NM_006946.4(SPTBN2):c.6754C>T (p.Arg2252Cys)
NM_006946.4(SPTBN2):c.6766G>A (p.Gly2256Ser)
NM_006946.4(SPTBN2):c.6775A>G (p.Lys2259Glu)
NM_006946.4(SPTBN2):c.677A>C (p.Glu226Ala)
NM_006946.4(SPTBN2):c.6780T>C (p.Asp2260=)
NM_006946.4(SPTBN2):c.67A>G (p.Asn23Asp)
NM_006946.4(SPTBN2):c.6803T>C (p.Val2268Ala) rs767774651
NM_006946.4(SPTBN2):c.6868C>T (p.Arg2290Ter)
NM_006946.4(SPTBN2):c.6874C>T (p.Arg2292Cys)
NM_006946.4(SPTBN2):c.6875G>A (p.Arg2292His)
NM_006946.4(SPTBN2):c.6890A>C (p.Lys2297Thr)
NM_006946.4(SPTBN2):c.6897-6C>A
NM_006946.4(SPTBN2):c.691T>A (p.Cys231Ser)
NM_006946.4(SPTBN2):c.6939+14C>A
NM_006946.4(SPTBN2):c.6950G>C (p.Ser2317Thr)
NM_006946.4(SPTBN2):c.6953C>T (p.Ser2318Leu)
NM_006946.4(SPTBN2):c.6980T>C (p.Ile2327Thr)
NM_006946.4(SPTBN2):c.6989C>T (p.Ala2330Val)
NM_006946.4(SPTBN2):c.699A>T (p.Ala233=)
NM_006946.4(SPTBN2):c.7001C>T (p.Ser2334Phe)
NM_006946.4(SPTBN2):c.7004_7012del (p.Gly2335_Pro2337del) rs1365371309
NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln)
NM_006946.4(SPTBN2):c.7046T>C (p.Met2349Thr)
NM_006946.4(SPTBN2):c.7065G>A (p.Met2355Ile)
NM_006946.4(SPTBN2):c.7068C>T (p.Pro2356=)
NM_006946.4(SPTBN2):c.7080C>T (p.Pro2360=)
NM_006946.4(SPTBN2):c.7081G>A (p.Val2361Ile)
NM_006946.4(SPTBN2):c.7084G>A (p.Gly2362Arg)
NM_006946.4(SPTBN2):c.7090G>A (p.Glu2364Lys)
NM_006946.4(SPTBN2):c.7120G>A (p.Gly2374Ser)
NM_006946.4(SPTBN2):c.7133_7134del (p.Glu2378fs)
NM_006946.4(SPTBN2):c.725A>G (p.Asn242Ser) rs1941997379
NM_006946.4(SPTBN2):c.753C>A (p.Thr251=)
NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro) rs121918306
NM_006946.4(SPTBN2):c.774C>G (p.Asp258Glu) rs139240091
NM_006946.4(SPTBN2):c.791C>A (p.Pro264Gln)
NM_006946.4(SPTBN2):c.793G>C (p.Asp265His) rs2135491492
NM_006946.4(SPTBN2):c.794A>G (p.Asp265Gly) rs1941830514
NM_006946.4(SPTBN2):c.794A>T (p.Asp265Val) rs1941830514
NM_006946.4(SPTBN2):c.803C>T (p.Ser268Leu)
NM_006946.4(SPTBN2):c.82C>T (p.Leu28Phe)
NM_006946.4(SPTBN2):c.833A>C (p.His278Pro) rs2135491194
NM_006946.4(SPTBN2):c.879T>C (p.Ile293=)
NM_006946.4(SPTBN2):c.914G>A (p.Arg305His)
NM_006946.4(SPTBN2):c.916C>T (p.Leu306=)
NM_006946.4(SPTBN2):c.933G>A (p.Glu311=)
NM_006946.4(SPTBN2):c.93G>A (p.Ser31=)
NM_006946.4(SPTBN2):c.957G>A (p.Gln319=)
NM_006946.4(SPTBN2):c.976G>A (p.Val326Met)

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