ClinVar Miner

List of variants in gene SPTB studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 885
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HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.-51-115T>C rs179338 0.99933
NM_001355436.2(SPTB):c.4002+26T>C rs229634 0.53044
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591 0.44391
NM_001355436.2(SPTB):c.1341+272C>G rs229588 0.44228
NM_001355436.2(SPTB):c.474+301T>C rs4902317 0.43543
NM_001355436.2(SPTB):c.1342-68G>T rs229589 0.42663
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587 0.42630
NM_001355436.2(SPTB):c.300+7T>C rs229581 0.41899
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592 0.41773
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923 0.40570
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806 0.38794
NM_001355436.2(SPTB):c.876+5A>G rs230703 0.36832
NM_001355436.2(SPTB):c.648-49G>A rs230704 0.36676
NM_001355436.2(SPTB):c.-51-103T>C rs1695751 0.36063
NM_001355436.2(SPTB):c.4474-42C>T rs1741486 0.34516
NM_001355436.2(SPTB):c.4473+216G>T rs3819932 0.34515
NM_001355436.2(SPTB):c.4474-178A>G rs2884253 0.34513
NM_001355436.2(SPTB):c.4473+93T>C rs1741485 0.34512
NM_001355436.2(SPTB):c.4474-76C>T rs2357726 0.34483
NM_001355436.2(SPTB):c.4473+131C>G rs1695764 0.34482
NM_001355436.2(SPTB):c.4473+133T>C rs1695765 0.34467
NM_001355436.2(SPTB):c.4474-217A>G rs2357727 0.34456
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487 0.34432
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488 0.34424
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528 0.34399
NM_001355436.2(SPTB):c.4003-328C>T rs229638 0.34311
NM_001355436.2(SPTB):c.300+23C>T rs1353857 0.25252
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586 0.25102
NM_001355436.2(SPTB):c.6023-8C>T rs56181906 0.17449
NM_001355436.2(SPTB):c.6269+13C>T rs11622977 0.17268
NM_001355436.2(SPTB):c.5799-7C>T rs7142689 0.17051
NM_001355436.2(SPTB):c.6345+321A>G rs189086 0.12753
NM_001355436.2(SPTB):c.4266+296A>G rs113266364 0.12580
NM_001355436.2(SPTB):c.4474-47T>C rs1107633 0.06685
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) rs17180350 0.06645
NM_001355436.2(SPTB):c.4003-12T>C rs78707026 0.06057
NM_001355436.2(SPTB):c.408C>T (p.His136=) rs11623956 0.06031
NM_001355436.2(SPTB):c.4222G>C (p.Gly1408Arg) rs17245552 0.06024
NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=) rs4899145 0.05960
NM_001355436.2(SPTB):c.4564-4G>A rs4902312 0.05860
NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=) rs4902310 0.05857
NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=) rs4902311 0.05828
NM_001355436.2(SPTB):c.4002+137G>A rs17826105 0.05763
NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=) rs17180252 0.05745
NM_001355436.2(SPTB):c.764-24dup rs35533493 0.05040
NM_001355436.2(SPTB):c.6345+162G>C rs229601 0.04555
NM_001355436.2(SPTB):c.177C>T (p.Thr59=) rs2277503 0.04465
NM_001355436.2(SPTB):c.300+255G>A rs3825645 0.04462
NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg) rs10132778 0.03447
NM_001355436.2(SPTB):c.666T>C (p.Phe222=) rs17102119 0.01896
NM_001355436.2(SPTB):c.2934G>A (p.Glu978=) rs72724498 0.01536
NM_001355436.2(SPTB):c.609G>A (p.Lys203=) rs74666863 0.00811
NM_001355436.2(SPTB):c.1765G>A (p.Ala589Thr) rs61459051 0.00757
NM_001355436.2(SPTB):c.6220-16C>A rs78459089 0.00690
NM_001355436.2(SPTB):c.1707G>A (p.Lys569=) rs139116435 0.00656
NM_001355436.2(SPTB):c.5554-3C>T rs190765118 0.00555
NM_001355436.2(SPTB):c.3764+9G>A rs150423485 0.00537
NM_001355436.2(SPTB):c.996C>T (p.Asn332=) rs141060172 0.00483
NM_001355436.2(SPTB):c.301-18G>A rs116588454 0.00388
NM_001355436.2(SPTB):c.345T>C (p.Asn115=) rs17180518 0.00330
NM_001355436.2(SPTB):c.4618A>C (p.Arg1540=) rs61989884 0.00322
NM_001355436.2(SPTB):c.4699G>C (p.Asp1567His) rs138126360 0.00318
NM_001355436.2(SPTB):c.4236C>T (p.Thr1412=) rs229639 0.00286
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=) rs74056006 0.00222
NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=) rs229593 0.00197
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=) rs114513294 0.00176
NM_001355436.2(SPTB):c.807T>C (p.Tyr269=) rs115882528 0.00155
NM_001355436.2(SPTB):c.40C>T (p.Pro14Ser) rs147059670 0.00150
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val) rs148337824 0.00150
NM_001355436.2(SPTB):c.6346-13dup rs555587693 0.00149
NM_001355436.2(SPTB):c.5750C>T (p.Ser1917Phe) rs149678681 0.00147
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser) rs149186357 0.00141
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile) rs149316006 0.00140
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_001355436.2(SPTB):c.6045G>A (p.Ser2015=) rs149362111 0.00138
NM_001355436.2(SPTB):c.6496C>G (p.Pro2166Ala) rs144051169 0.00136
NM_001355436.2(SPTB):c.1512C>T (p.Asp504=) rs150968094 0.00133
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln) rs140141633 0.00132
NM_001355436.2(SPTB):c.414T>C (p.Ile138=) rs139699062 0.00130
NM_001355436.2(SPTB):c.2562C>T (p.Phe854=) rs12433436 0.00129
NM_001355436.2(SPTB):c.6399T>C (p.Gly2133=) rs190118021 0.00123
NM_001355436.2(SPTB):c.-23G>A rs371035446 0.00120
NM_001355436.2(SPTB):c.4670A>G (p.Glu1557Gly) rs140648376 0.00113
NM_001355436.2(SPTB):c.6345+19T>A rs151232626 0.00113
NM_001355436.2(SPTB):c.204G>A (p.Leu68=) rs145077630 0.00105
NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile) rs3742601 0.00103
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=) rs147235045 0.00102
NM_001355436.2(SPTB):c.2060G>A (p.Arg687His) rs3742602 0.00101
NM_001355436.2(SPTB):c.5277C>T (p.Asp1759=) rs73273601 0.00093
NM_001355436.2(SPTB):c.5944G>A (p.Glu1982Lys) rs145664609 0.00070
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn) rs145675502 0.00068
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His) rs146326769 0.00065
NM_001355436.2(SPTB):c.6396_6398dup (p.Gly2133_Gln2134insGly) rs145280081 0.00064
NM_001355436.2(SPTB):c.5855T>C (p.Ile1952Thr) rs138039383 0.00063
NM_001355436.2(SPTB):c.4474-17C>T rs192115079 0.00061
NM_001355436.2(SPTB):c.4973+8del rs549990894 0.00061
NM_001355436.2(SPTB):c.2431G>A (p.Glu811Lys) rs140584449 0.00057
NM_001355436.2(SPTB):c.3016G>A (p.Ala1006Thr) rs151112486 0.00051
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=) rs146561732 0.00051
NM_001355436.2(SPTB):c.774G>A (p.Thr258=) rs12435635 0.00051
NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His) rs76283214 0.00048
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp) rs189656371 0.00048
NM_001355436.2(SPTB):c.4563+11C>T rs368290807 0.00046
NM_001355436.2(SPTB):c.5942G>A (p.Arg1981His) rs146513976 0.00045
NM_001355436.2(SPTB):c.2303G>A (p.Gly768Asp) rs147712872 0.00043
NM_001355436.2(SPTB):c.4782C>T (p.Asp1594=) rs138279396 0.00043
NM_001355436.2(SPTB):c.2639T>A (p.Leu880Gln) rs770698912 0.00042
NM_001355436.2(SPTB):c.1303G>C (p.Glu435Gln) rs149521594 0.00041
NM_001355436.2(SPTB):c.4001C>T (p.Ala1334Val) rs113139501 0.00036
NM_001355436.2(SPTB):c.5738G>A (p.Arg1913His) rs201489818 0.00036
NM_001355436.2(SPTB):c.1023G>T (p.Leu341=) rs144939390 0.00034
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_001355436.2(SPTB):c.96T>C (p.Asn32=) rs141340359 0.00034
NM_001355436.2(SPTB):c.1048G>A (p.Val350Met) rs141973081 0.00030
NM_001355436.2(SPTB):c.2480G>A (p.Arg827Gln) rs150013838 0.00028
NM_001355436.2(SPTB):c.1577C>T (p.Thr526Ile) rs145315673 0.00027
NM_001355436.2(SPTB):c.871G>A (p.Gly291Ser) rs143599352 0.00026
NM_001355436.2(SPTB):c.1261G>C (p.Glu421Gln) rs142982338 0.00025
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys) rs143293179 0.00025
NM_001355436.2(SPTB):c.183G>A (p.Thr61=) rs149102226 0.00024
NM_001355436.2(SPTB):c.2197G>C (p.Ala733Pro) rs772434433 0.00024
NM_001355436.2(SPTB):c.1027G>A (p.Ala343Thr) rs149837193 0.00022
NM_001355436.2(SPTB):c.6484G>A (p.Glu2162Lys) rs375816870 0.00020
NM_001355436.2(SPTB):c.1182+3A>G rs45556435 0.00019
NM_001355436.2(SPTB):c.6369T>G (p.Pro2123=) rs149033754 0.00019
NM_001355436.2(SPTB):c.4973+4C>T rs758611621 0.00015
NM_001355436.2(SPTB):c.947C>T (p.Thr316Ile) rs146651264 0.00015
NM_001355436.2(SPTB):c.2116C>T (p.Arg706Cys) rs184962510 0.00014
NM_001355436.2(SPTB):c.2250C>T (p.Gly750=) rs200908449 0.00014
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=) rs75000411 0.00013
NM_001355436.2(SPTB):c.6361A>G (p.Thr2121Ala) rs571733505 0.00013
NM_001355436.2(SPTB):c.3103C>T (p.Arg1035Trp) rs143827332 0.00011
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu) rs760803657 0.00011
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val) rs200876438 0.00011
NM_001355436.2(SPTB):c.4891C>T (p.Arg1631Cys) rs372503030 0.00011
NM_001355436.2(SPTB):c.5467G>A (p.Asp1823Asn) rs200508249 0.00011
NM_001355436.2(SPTB):c.1773C>G (p.Thr591=) rs565667858 0.00010
NM_001355436.2(SPTB):c.2979C>G (p.Ile993Met) rs764571605 0.00009
NM_001355436.2(SPTB):c.3203A>G (p.Gln1068Arg) rs371774042 0.00009
NM_001355436.2(SPTB):c.3395C>T (p.Thr1132Met) rs186859277 0.00009
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln) rs141173028 0.00009
NM_001355436.2(SPTB):c.6313T>G (p.Ser2105Ala) rs749123042 0.00009
NM_001355436.2(SPTB):c.1493G>A (p.Arg498His) rs140796444 0.00008
NM_001355436.2(SPTB):c.3624G>A (p.Arg1208=) rs200385949 0.00008
NM_001355436.2(SPTB):c.3780C>T (p.Asn1260=) rs191583247 0.00008
NM_001355436.2(SPTB):c.4143C>T (p.Ser1381=) rs148504156 0.00008
NM_001355436.2(SPTB):c.2149C>T (p.Arg717Cys) rs538347576 0.00007
NM_001355436.2(SPTB):c.3029G>A (p.Arg1010His) rs556377923 0.00007
NM_001355436.2(SPTB):c.6236G>A (p.Arg2079His) rs200787781 0.00007
NM_001355436.2(SPTB):c.1328G>A (p.Arg443His) rs752079707 0.00006
NM_001355436.2(SPTB):c.221G>A (p.Arg74His) rs757763783 0.00006
NM_001355436.2(SPTB):c.2290C>T (p.Arg764Trp) rs376198076 0.00006
NM_001355436.2(SPTB):c.2804+15G>A rs750081021 0.00006
NM_001355436.2(SPTB):c.4355C>T (p.Ala1452Val) rs768609633 0.00006
NM_001355436.2(SPTB):c.4574A>G (p.Asn1525Ser) rs373724473 0.00006
NM_001355436.2(SPTB):c.5422G>A (p.Glu1808Lys) rs143950158 0.00006
NM_001355436.2(SPTB):c.5726T>C (p.Phe1909Ser) rs576500528 0.00006
NM_001355436.2(SPTB):c.6392C>T (p.Pro2131Leu) rs200556500 0.00006
NM_001355436.2(SPTB):c.6499G>A (p.Ala2167Thr) rs112462309 0.00006
NM_001355436.2(SPTB):c.2435A>C (p.Glu812Ala) rs144888014 0.00005
NM_001355436.2(SPTB):c.102C>T (p.Asn34=) rs528882023 0.00004
NM_001355436.2(SPTB):c.1492C>T (p.Arg498Cys) rs144624027 0.00004
NM_001355436.2(SPTB):c.238A>G (p.Lys80Glu) rs747147135 0.00004
NM_001355436.2(SPTB):c.3622C>T (p.Arg1208Trp) rs374240422 0.00004
NM_001355436.2(SPTB):c.4117C>G (p.Gln1373Glu) rs142640389 0.00004
NM_001355436.2(SPTB):c.4837C>T (p.Pro1613Ser) rs375478086 0.00004
NM_001355436.2(SPTB):c.5036C>T (p.Ala1679Val) rs774655120 0.00004
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val) rs367841692 0.00004
NM_001355436.2(SPTB):c.6193T>G (p.Phe2065Val) rs143894722 0.00004
NM_001355436.2(SPTB):c.2781G>A (p.Gln927=) rs368620488 0.00003
NM_001355436.2(SPTB):c.4002+23G>A rs369582874 0.00003
NM_001355436.2(SPTB):c.4147C>A (p.Leu1383Met) rs367610564 0.00003
NM_001355436.2(SPTB):c.5279C>T (p.Ala1760Val) rs778913256 0.00003
NM_001355436.2(SPTB):c.5287A>G (p.Ser1763Gly) rs200617821 0.00003
NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys) rs764560431 0.00003
NM_001355436.2(SPTB):c.1504C>T (p.Arg502Cys) rs755636829 0.00002
NM_001355436.2(SPTB):c.2143G>A (p.Glu715Lys) rs773358270 0.00002
NM_001355436.2(SPTB):c.2670C>T (p.Phe890=) rs375773332 0.00002
NM_001355436.2(SPTB):c.2723A>G (p.Asn908Ser) rs750079421 0.00002
NM_001355436.2(SPTB):c.2912C>T (p.Thr971Met) rs138556050 0.00002
NM_001355436.2(SPTB):c.3311C>G (p.Ala1104Gly) rs374648585 0.00002
NM_001355436.2(SPTB):c.3747G>A (p.Val1249=) rs769686954 0.00002
NM_001355436.2(SPTB):c.4175A>G (p.Asn1392Ser) rs764068701 0.00002
NM_001355436.2(SPTB):c.4291C>T (p.Arg1431Ter) rs757836263 0.00002
NM_001355436.2(SPTB):c.430C>T (p.Arg144Cys) rs547207486 0.00002
NM_001355436.2(SPTB):c.4385A>G (p.Asp1462Gly) rs757639847 0.00002
NM_001355436.2(SPTB):c.4892G>A (p.Arg1631His) rs201082918 0.00002
NM_001355436.2(SPTB):c.5267G>T (p.Arg1756Leu) rs776376302 0.00002
NM_001355436.2(SPTB):c.5737C>T (p.Arg1913Cys) rs752611530 0.00002
NM_001355436.2(SPTB):c.6061G>C (p.Ala2021Pro) rs929734499 0.00002
NM_001355436.2(SPTB):c.870C>T (p.Val290=) rs781257002 0.00002
NM_001355436.2(SPTB):c.220C>T (p.Arg74Cys) rs575005279 0.00001
NM_001355436.2(SPTB):c.2858C>G (p.Ala953Gly) rs983201841 0.00001
NM_001355436.2(SPTB):c.3010G>A (p.Val1004Met) rs779906104 0.00001
NM_001355436.2(SPTB):c.325C>T (p.Arg109Cys) rs139094636 0.00001
NM_001355436.2(SPTB):c.3478C>T (p.Arg1160Cys) rs765222922 0.00001
NM_001355436.2(SPTB):c.4076G>A (p.Arg1359Gln) rs199780681 0.00001
NM_001355436.2(SPTB):c.4273G>A (p.Glu1425Lys) rs781231618 0.00001
NM_001355436.2(SPTB):c.4292G>A (p.Arg1431Gln) rs943876155 0.00001
NM_001355436.2(SPTB):c.4305G>T (p.Leu1435=) rs577158996 0.00001
NM_001355436.2(SPTB):c.4921A>G (p.Lys1641Glu) rs1359689800 0.00001
NM_001355436.2(SPTB):c.5124A>G (p.Glu1708=) rs200940814 0.00001
NM_001355436.2(SPTB):c.5222C>T (p.Ala1741Val) rs745940095 0.00001
NM_001355436.2(SPTB):c.5319C>T (p.Asp1773=) rs767020547 0.00001
NM_001355436.2(SPTB):c.5439C>T (p.Ile1813=) rs774241447 0.00001
NM_001355436.2(SPTB):c.5486G>A (p.Ser1829Asn) rs766226678 0.00001
NM_001355436.2(SPTB):c.5863C>T (p.Arg1955Trp) rs747917733 0.00001
NM_001355436.2(SPTB):c.6025C>T (p.Leu2009=) rs1468675751 0.00001
NM_001355436.2(SPTB):c.6070T>A (p.Trp2024Arg) rs1225539653 0.00001
NM_001355436.2(SPTB):c.6157G>C (p.Ala2053Pro) rs121918645 0.00001
NM_001355436.2(SPTB):c.6173C>T (p.Thr2058Met) rs756849461 0.00001
NM_001355436.2(SPTB):c.6324G>A (p.Ala2108=) rs756164746 0.00001
NC_000014.8:g.(?_65233375)_(65246669_?)dup
NC_000014.8:g.(?_65270305)_(65271828_?)del
NC_000014.8:g.(?_65289645)_(65289812_?)del
NC_000014.9:g.64769729del
NM_001355436.2(SPTB):c.1004C>T (p.Thr335Met)
NM_001355436.2(SPTB):c.1008C>G (p.Gly336=)
NM_001355436.2(SPTB):c.1008C>T (p.Gly336=)
NM_001355436.2(SPTB):c.1015C>T (p.Gln339Ter)
NM_001355436.2(SPTB):c.1023_1024delinsTT (p.Gln342Ter)
NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter) rs2139621075
NM_001355436.2(SPTB):c.1042C>T (p.Arg348Cys)
NM_001355436.2(SPTB):c.1043G>A (p.Arg348His)
NM_001355436.2(SPTB):c.1047C>T (p.Thr349=)
NM_001355436.2(SPTB):c.1058C>T (p.Pro353Leu)
NM_001355436.2(SPTB):c.1064+1G>A
NM_001355436.2(SPTB):c.1064+3A>T
NM_001355436.2(SPTB):c.1065-16T>G
NM_001355436.2(SPTB):c.1092T>C (p.Val364=)
NM_001355436.2(SPTB):c.10del (p.Ala4fs)
NM_001355436.2(SPTB):c.1101del (p.Phe367fs)
NM_001355436.2(SPTB):c.1109A>G (p.Gln370Arg)
NM_001355436.2(SPTB):c.1124C>T (p.Ala375Val)
NM_001355436.2(SPTB):c.1146_1147del (p.His384fs)
NM_001355436.2(SPTB):c.1153G>A (p.Asp385Asn) rs777273263
NM_001355436.2(SPTB):c.1179C>T (p.Asn393=)
NM_001355436.2(SPTB):c.1182+18G>A
NM_001355436.2(SPTB):c.1182+1G>A
NM_001355436.2(SPTB):c.1182_1182+9del rs2139613030
NM_001355436.2(SPTB):c.1183-160dup rs3215645
NM_001355436.2(SPTB):c.1183-1G>A
NM_001355436.2(SPTB):c.1188G>A (p.Trp396Ter)
NM_001355436.2(SPTB):c.1189del (p.Glu397fs)
NM_001355436.2(SPTB):c.1214G>A (p.Arg405Gln)
NM_001355436.2(SPTB):c.1232G>A (p.Arg411Lys)
NM_001355436.2(SPTB):c.1237G>T (p.Glu413Ter)
NM_001355436.2(SPTB):c.1246C>T (p.Arg416Trp)
NM_001355436.2(SPTB):c.1249C>T (p.Gln417Ter) rs2139606980
NM_001355436.2(SPTB):c.1249del (p.Gln417fs)
NM_001355436.2(SPTB):c.1259T>C (p.Leu420Pro)
NM_001355436.2(SPTB):c.1277G>A (p.Arg426His)
NM_001355436.2(SPTB):c.1293C>T (p.Ala431=)
NM_001355436.2(SPTB):c.1294G>A (p.Ala432Thr)
NM_001355436.2(SPTB):c.130C>T (p.Arg44Trp)
NM_001355436.2(SPTB):c.1311G>A (p.Trp437Ter)
NM_001355436.2(SPTB):c.1324C>T (p.Gln442Ter)
NM_001355436.2(SPTB):c.1327C>T (p.Arg443Cys)
NM_001355436.2(SPTB):c.1333G>A (p.Val445Met)
NM_001355436.2(SPTB):c.1339C>T (p.Gln447Ter)
NM_001355436.2(SPTB):c.1341+1G>A
NM_001355436.2(SPTB):c.1342-10G>A rs1037576854
NM_001355436.2(SPTB):c.1342-11C>T
NM_001355436.2(SPTB):c.1342-13_1342-12delinsAA
NM_001355436.2(SPTB):c.1342-17T>G
NM_001355436.2(SPTB):c.1342-1G>C
NM_001355436.2(SPTB):c.1342-7G>A rs2082754554
NM_001355436.2(SPTB):c.1350T>C (p.Phe450=)
NM_001355436.2(SPTB):c.1353G>A (p.Gly451=)
NM_001355436.2(SPTB):c.1357G>T (p.Asp453Tyr)
NM_001355436.2(SPTB):c.136_137insT (p.Lys46fs) rs2139701186
NM_001355436.2(SPTB):c.1378G>A (p.Ala460Thr)
NM_001355436.2(SPTB):c.1396dup (p.Ala466fs) rs2139603257
NM_001355436.2(SPTB):c.1412C>T (p.Thr471Met)
NM_001355436.2(SPTB):c.1425G>A (p.Glu475=)
NM_001355436.2(SPTB):c.1431G>A (p.Arg477=) rs886050626
NM_001355436.2(SPTB):c.1441C>T (p.Leu481=)
NM_001355436.2(SPTB):c.1456C>T (p.Gln486Ter)
NM_001355436.2(SPTB):c.1465G>A (p.Glu489Lys)
NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter)
NM_001355436.2(SPTB):c.1473_1474del (p.Asn492fs)
NM_001355436.2(SPTB):c.148+1G>A
NM_001355436.2(SPTB):c.1499C>T (p.Thr500Met)
NM_001355436.2(SPTB):c.1509G>C (p.Lys503Asn)
NM_001355436.2(SPTB):c.1510del (p.Asp504fs) rs2139602589
NM_001355436.2(SPTB):c.1522C>T (p.Arg508Cys)
NM_001355436.2(SPTB):c.1523G>A (p.Arg508His)
NM_001355436.2(SPTB):c.1530G>A (p.Trp510Ter) rs2139602480
NM_001355436.2(SPTB):c.1534T>G (p.Tyr512Asp)
NM_001355436.2(SPTB):c.154C>G (p.Arg52Gly)
NM_001355436.2(SPTB):c.154C>T (p.Arg52Trp) rs1594796374
NM_001355436.2(SPTB):c.155G>A (p.Arg52Gln) rs1452760098
NM_001355436.2(SPTB):c.155G>T (p.Arg52Leu) rs1452760098
NM_001355436.2(SPTB):c.1569del (p.Arg523fs)
NM_001355436.2(SPTB):c.1573G>A (p.Glu525Lys)
NM_001355436.2(SPTB):c.1577_1578insT (p.Thr527fs)
NM_001355436.2(SPTB):c.1603C>A (p.Gln535Lys)
NM_001355436.2(SPTB):c.1603C>T (p.Gln535Ter)
NM_001355436.2(SPTB):c.1623C>T (p.Ile541=)
NM_001355436.2(SPTB):c.1625_1632dup (p.Asp545fs)
NM_001355436.2(SPTB):c.1644+20C>T
NM_001355436.2(SPTB):c.1645-1G>T
NM_001355436.2(SPTB):c.1671G>A (p.Gly557=)
NM_001355436.2(SPTB):c.167A>G (p.Gln56Arg)
NM_001355436.2(SPTB):c.1702C>T (p.Gln568Ter)
NM_001355436.2(SPTB):c.1729A>G (p.Ile577Val)
NM_001355436.2(SPTB):c.173dup (p.Thr59fs)
NM_001355436.2(SPTB):c.1774del (p.Thr591_Leu592insTer)
NM_001355436.2(SPTB):c.1785C>T (p.Thr595=)
NM_001355436.2(SPTB):c.1795+1G>A rs786204766
NM_001355436.2(SPTB):c.1796-1G>A
NM_001355436.2(SPTB):c.1796-1G>C
NM_001355436.2(SPTB):c.1801C>T (p.Gln601Ter) rs2139596820
NM_001355436.2(SPTB):c.1809T>A (p.Cys603Ter)
NM_001355436.2(SPTB):c.1816C>T (p.Gln606Ter)
NM_001355436.2(SPTB):c.1829_1832dup (p.Ile612fs)
NM_001355436.2(SPTB):c.1832G>A (p.Arg611His)
NM_001355436.2(SPTB):c.1886G>A (p.Arg629Gln)
NM_001355436.2(SPTB):c.188G>A (p.Trp63Ter)
NM_001355436.2(SPTB):c.1894C>T (p.Gln632Ter)
NM_001355436.2(SPTB):c.189G>A (p.Trp63Ter)
NM_001355436.2(SPTB):c.1903C>T (p.Gln635Ter)
NM_001355436.2(SPTB):c.190G>A (p.Val64Met)
NM_001355436.2(SPTB):c.1912C>T (p.Arg638Ter) rs2139596300
NM_001355436.2(SPTB):c.1920G>A (p.Trp640Ter)
NM_001355436.2(SPTB):c.1931G>A (p.Trp644Ter)
NM_001355436.2(SPTB):c.1932G>A (p.Trp644Ter) rs2139596180
NM_001355436.2(SPTB):c.1933G>T (p.Glu645Ter) rs2082718032
NM_001355436.2(SPTB):c.196T>C (p.Ser66Pro)
NM_001355436.2(SPTB):c.1972dup (p.Gln658fs) rs2139596055
NM_001355436.2(SPTB):c.1979A>C (p.Tyr660Ser)
NM_001355436.2(SPTB):c.1987del (p.Leu663fs)
NM_001355436.2(SPTB):c.198G>C (p.Ser66=)
NM_001355436.2(SPTB):c.1A>G (p.Met1Val) rs121918651
NM_001355436.2(SPTB):c.200A>C (p.His67Pro)
NM_001355436.2(SPTB):c.201C>T (p.His67=)
NM_001355436.2(SPTB):c.2024del (p.Leu675fs)
NM_001355436.2(SPTB):c.2029C>T (p.Arg677Cys)
NM_001355436.2(SPTB):c.2030G>A (p.Arg677His)
NM_001355436.2(SPTB):c.203T>C (p.Leu68Pro)
NM_001355436.2(SPTB):c.2049G>A (p.Glu683=)
NM_001355436.2(SPTB):c.2059C>T (p.Arg687Cys)
NM_001355436.2(SPTB):c.2064del (p.Leu689fs)
NM_001355436.2(SPTB):c.208C>T (p.Arg70Ter) rs1566775577
NM_001355436.2(SPTB):c.2092C>T (p.Gln698Ter)
NM_001355436.2(SPTB):c.2093del (p.Gln698fs)
NM_001355436.2(SPTB):c.2115G>A (p.Ala705=)
NM_001355436.2(SPTB):c.2132_2145del (p.His711fs)
NM_001355436.2(SPTB):c.2135C>T (p.Pro712Leu)
NM_001355436.2(SPTB):c.2136G>A (p.Pro712=)
NM_001355436.2(SPTB):c.2137C>T (p.Gln713Ter)
NM_001355436.2(SPTB):c.2142C>G (p.Ile714Met)
NM_001355436.2(SPTB):c.2144_2145del (p.Glu715fs)
NM_001355436.2(SPTB):c.2165C>T (p.Ser722Leu)
NM_001355436.2(SPTB):c.2170C>T (p.Gln724Ter)
NM_001355436.2(SPTB):c.2175G>A (p.Trp725Ter)
NM_001355436.2(SPTB):c.2176G>A (p.Asp726Asn)
NM_001355436.2(SPTB):c.219C>A (p.Cys73Ter)
NM_001355436.2(SPTB):c.222C>T (p.Arg74=)
NM_001355436.2(SPTB):c.2237del (p.Phe746fs)
NM_001355436.2(SPTB):c.2239C>T (p.Gln747Ter)
NM_001355436.2(SPTB):c.2256G>A (p.Ala752=)
NM_001355436.2(SPTB):c.2274G>A (p.Trp758Ter) rs1474848178
NM_001355436.2(SPTB):c.2278C>T (p.Gln760Ter) rs2139594261
NM_001355436.2(SPTB):c.2280A>T (p.Gln760His)
NM_001355436.2(SPTB):c.228C>G (p.Thr76=) rs748108358
NM_001355436.2(SPTB):c.2291G>A (p.Arg764Gln)
NM_001355436.2(SPTB):c.2312del (p.Val771fs)
NM_001355436.2(SPTB):c.2323G>A (p.Glu775Lys)
NM_001355436.2(SPTB):c.2336G>A (p.Arg779Gln)
NM_001355436.2(SPTB):c.2351_2357del (p.Lys784fs)
NM_001355436.2(SPTB):c.2351del (p.Lys784fs)
NM_001355436.2(SPTB):c.2363_2364insA (p.Phe788fs)
NM_001355436.2(SPTB):c.2368G>T (p.Glu790Ter) rs2139593716
NM_001355436.2(SPTB):c.2387G>A (p.Arg796His)
NM_001355436.2(SPTB):c.2407_2408delinsTG (p.Glu803Trp)
NM_001355436.2(SPTB):c.2413C>T (p.Gln805Ter)
NM_001355436.2(SPTB):c.242A>T (p.Asp81Val)
NM_001355436.2(SPTB):c.2458A>G (p.Thr820Ala) rs778685523
NM_001355436.2(SPTB):c.2470C>T (p.Gln824Ter)
NM_001355436.2(SPTB):c.2472G>C (p.Gln824His)
NM_001355436.2(SPTB):c.2479C>T (p.Arg827Trp)
NM_001355436.2(SPTB):c.248G>A (p.Arg83Gln)
NM_001355436.2(SPTB):c.2499G>A (p.Val833=)
NM_001355436.2(SPTB):c.2500del (p.Val834fs) rs2139592956
NM_001355436.2(SPTB):c.250del (p.Asp84fs)
NM_001355436.2(SPTB):c.2510C>T (p.Ala837Val)
NM_001355436.2(SPTB):c.2515dup (p.Leu839fs)
NM_001355436.2(SPTB):c.2524C>T (p.Gln842Ter)
NM_001355436.2(SPTB):c.2539del (p.Ala847fs) rs2082703730
NM_001355436.2(SPTB):c.2561del (p.Phe854fs)
NM_001355436.2(SPTB):c.2566del (p.Glu856fs)
NM_001355436.2(SPTB):c.2574C>T (p.Asp858=)
NM_001355436.2(SPTB):c.2576C>T (p.Ala859Val)
NM_001355436.2(SPTB):c.2588G>A (p.Trp863Ter)
NM_001355436.2(SPTB):c.2598_2599del (p.Lys867fs)
NM_001355436.2(SPTB):c.259A>G (p.Met87Val)
NM_001355436.2(SPTB):c.2603A>C (p.Glu868Ala)
NM_001355436.2(SPTB):c.2631A>G (p.Pro877=)
NM_001355436.2(SPTB):c.2631A>T (p.Pro877=)
NM_001355436.2(SPTB):c.2638_2640dup (p.Leu880_Glu881insLeu)
NM_001355436.2(SPTB):c.2655C>T (p.Val885=)
NM_001355436.2(SPTB):c.2656G>T (p.Val886Leu) rs146031194
NM_001355436.2(SPTB):c.2662C>T (p.His888Tyr)
NM_001355436.2(SPTB):c.2667-2A>G
NM_001355436.2(SPTB):c.2696C>T (p.Thr899Ile)
NM_001355436.2(SPTB):c.2722A>G (p.Asn908Asp)
NM_001355436.2(SPTB):c.2727C>T (p.Leu909=)
NM_001355436.2(SPTB):c.2728del (p.Ala910fs)
NM_001355436.2(SPTB):c.2749_2750del (p.Ser917fs)
NM_001355436.2(SPTB):c.2755C>T (p.His919Tyr)
NM_001355436.2(SPTB):c.2782_2783dup (p.Gln929fs) rs2139587357
NM_001355436.2(SPTB):c.2804+152_2804+153del rs563905446
NM_001355436.2(SPTB):c.2804+1G>A
NM_001355436.2(SPTB):c.2804G>A (p.Arg935Lys) rs2139587234
NM_001355436.2(SPTB):c.2805-129del rs113859449
NM_001355436.2(SPTB):c.2805-1G>A
NM_001355436.2(SPTB):c.2805-22G>A
NM_001355436.2(SPTB):c.2805-2A>T
NM_001355436.2(SPTB):c.2805-3C>G
NM_001355436.2(SPTB):c.2805-5G>A
NM_001355436.2(SPTB):c.2805-8T>C
NM_001355436.2(SPTB):c.2818C>T (p.Gln940Ter)
NM_001355436.2(SPTB):c.281dup (p.Leu95fs) rs2139642530
NM_001355436.2(SPTB):c.282G>A (p.Val94=)
NM_001355436.2(SPTB):c.2832G>A (p.Ser944=)
NM_001355436.2(SPTB):c.2842del (p.Glu948fs)
NM_001355436.2(SPTB):c.2855C>G (p.Ser952Ter)
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter) rs1555369657
NM_001355436.2(SPTB):c.2881G>C (p.Val961Leu) rs149316006
NM_001355436.2(SPTB):c.2889C>A (p.Cys963Ter)
NM_001355436.2(SPTB):c.2893del (p.Glu965fs)
NM_001355436.2(SPTB):c.2926_2929del (p.Val976fs)
NM_001355436.2(SPTB):c.2952dup (p.Arg985fs) rs2139568866
NM_001355436.2(SPTB):c.2954G>A (p.Arg985Gln)
NM_001355436.2(SPTB):c.2955G>A (p.Arg985=)
NM_001355436.2(SPTB):c.2974G>A (p.Ala992Thr)
NM_001355436.2(SPTB):c.2980C>T (p.Gln994Ter)
NM_001355436.2(SPTB):c.300+2T>C
NM_001355436.2(SPTB):c.300+3A>G
NM_001355436.2(SPTB):c.3004C>G (p.Arg1002Gly)
NM_001355436.2(SPTB):c.3004C>T (p.Arg1002Cys)
NM_001355436.2(SPTB):c.3006T>G (p.Arg1002=)
NM_001355436.2(SPTB):c.3009C>T (p.Asp1003=)
NM_001355436.2(SPTB):c.301-14del
NM_001355436.2(SPTB):c.301-17C>T rs2082932654
NM_001355436.2(SPTB):c.301-22G>A rs2139637785
NM_001355436.2(SPTB):c.3017C>T (p.Ala1006Val)
NM_001355436.2(SPTB):c.3040del (p.Leu1014fs)
NM_001355436.2(SPTB):c.3071C>T (p.Ser1024Leu)
NM_001355436.2(SPTB):c.3088G>T (p.Glu1030Ter)
NM_001355436.2(SPTB):c.3112C>T (p.His1038Tyr)
NM_001355436.2(SPTB):c.3128G>A (p.Trp1043Ter) rs1594775390
NM_001355436.2(SPTB):c.3130C>T (p.Gln1044Ter)
NM_001355436.2(SPTB):c.3143A>G (p.Gln1048Arg)
NM_001355436.2(SPTB):c.3154G>A (p.Gly1052Ser)
NM_001355436.2(SPTB):c.3184C>T (p.Gln1062Ter)
NM_001355436.2(SPTB):c.3202C>T (p.Gln1068Ter)
NM_001355436.2(SPTB):c.320A>G (p.Lys107Arg)
NM_001355436.2(SPTB):c.3224C>T (p.Ala1075Val)
NM_001355436.2(SPTB):c.3228G>T (p.Trp1076Cys)
NM_001355436.2(SPTB):c.3233C>T (p.Ser1078Phe)
NM_001355436.2(SPTB):c.326G>C (p.Arg109Pro)
NM_001355436.2(SPTB):c.3271G>A (p.Glu1091Lys)
NM_001355436.2(SPTB):c.3286G>A (p.Ala1096Thr)
NM_001355436.2(SPTB):c.3304C>T (p.Gln1102Ter)
NM_001355436.2(SPTB):c.3319_3320dup (p.Asp1108fs)
NM_001355436.2(SPTB):c.3332del (p.Asp1111fs)
NM_001355436.2(SPTB):c.3334G>A (p.Gly1112Arg)
NM_001355436.2(SPTB):c.3338A>G (p.His1113Arg)
NM_001355436.2(SPTB):c.3356G>A (p.Arg1119His)
NM_001355436.2(SPTB):c.3369_3370del (p.Lys1126fs)
NM_001355436.2(SPTB):c.3372G>A (p.Gly1124=)
NM_001355436.2(SPTB):c.3382A>G (p.Ile1128Val)
NM_001355436.2(SPTB):c.3386A>G (p.Gln1129Arg)
NM_001355436.2(SPTB):c.338T>C (p.Leu113Pro)
NM_001355436.2(SPTB):c.3391C>T (p.Gln1131Ter) rs2082573854
NM_001355436.2(SPTB):c.3396G>A (p.Thr1132=)
NM_001355436.2(SPTB):c.3405G>C (p.Glu1135Asp)
NM_001355436.2(SPTB):c.3407_3408dup (p.Leu1137fs)
NM_001355436.2(SPTB):c.3434del (p.Gly1145fs)
NM_001355436.2(SPTB):c.3444T>G (p.Thr1148=)
NM_001355436.2(SPTB):c.3449G>A (p.Trp1150Ter)
NM_001355436.2(SPTB):c.3486C>T (p.His1162=)
NM_001355436.2(SPTB):c.3489C>T (p.Thr1163=)
NM_001355436.2(SPTB):c.3493_3496del (p.Ala1165fs)
NM_001355436.2(SPTB):c.3496C>T (p.Gln1166Ter)
NM_001355436.2(SPTB):c.3501C>A (p.Cys1167Ter)
NM_001355436.2(SPTB):c.3507del (p.Phe1170fs)
NM_001355436.2(SPTB):c.3511C>T (p.Gln1171Ter)
NM_001355436.2(SPTB):c.3535del (p.Gln1179fs)
NM_001355436.2(SPTB):c.3538G>A (p.Ala1180Thr)
NM_001355436.2(SPTB):c.3560A>G (p.Gln1187Arg)
NM_001355436.2(SPTB):c.3562-2A>G
NM_001355436.2(SPTB):c.3572_3596del (p.Leu1191fs)
NM_001355436.2(SPTB):c.3592_3594delinsAGTGATCCAGGCTCACTGGA (p.Asp1198fs)
NM_001355436.2(SPTB):c.3603A>G (p.Glu1201=)
NM_001355436.2(SPTB):c.361C>T (p.Gln121Ter)
NM_001355436.2(SPTB):c.3649A>G (p.Met1217Val)
NM_001355436.2(SPTB):c.3705_3706delinsGT (p.Ala1236Ser)
NM_001355436.2(SPTB):c.3712_3722del (p.Gly1238fs)
NM_001355436.2(SPTB):c.3731A>C (p.Lys1244Thr)
NM_001355436.2(SPTB):c.3763A>G (p.Arg1255Gly)
NM_001355436.2(SPTB):c.3764+1G>A
NM_001355436.2(SPTB):c.3764G>A (p.Arg1255Lys)
NM_001355436.2(SPTB):c.3764G>T (p.Arg1255Met)
NM_001355436.2(SPTB):c.3769A>G (p.Arg1257Gly)
NM_001355436.2(SPTB):c.3778A>T (p.Asn1260Tyr)
NM_001355436.2(SPTB):c.3781G>A (p.Glu1261Lys)
NM_001355436.2(SPTB):c.3790C>T (p.Gln1264Ter)
NM_001355436.2(SPTB):c.3791del (p.Gln1264fs) rs2139561056
NM_001355436.2(SPTB):c.37C>T (p.Gln13Ter)
NM_001355436.2(SPTB):c.3800C>G (p.Ser1267Cys)
NM_001355436.2(SPTB):c.382_385dup (p.His129fs)
NM_001355436.2(SPTB):c.3836T>A (p.Phe1279Tyr)
NM_001355436.2(SPTB):c.3838del (p.Leu1280fs) rs2139560751
NM_001355436.2(SPTB):c.3850C>T (p.Gln1284Ter) rs1343304057
NM_001355436.2(SPTB):c.3855+185del rs758712966
NM_001355436.2(SPTB):c.3855+1del
NM_001355436.2(SPTB):c.3855+9C>T
NM_001355436.2(SPTB):c.3855G>A (p.Glu1285=) rs1339247570
NM_001355436.2(SPTB):c.3856-14_3856-11del
NM_001355436.2(SPTB):c.3856-1G>A
NM_001355436.2(SPTB):c.3873C>T (p.Asn1291=)
NM_001355436.2(SPTB):c.3879G>A (p.Lys1293=)
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter) rs150471537
NM_001355436.2(SPTB):c.391G>A (p.Glu131Lys)
NM_001355436.2(SPTB):c.3935G>A (p.Trp1312Ter) rs140446828
NM_001355436.2(SPTB):c.3935G>C (p.Trp1312Ser)
NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter) rs2139555500
NM_001355436.2(SPTB):c.3941del (p.Lys1314fs)
NM_001355436.2(SPTB):c.3980_3983delinsCCAGAGAACATGAA (p.Gly1327fs) rs2139555125
NM_001355436.2(SPTB):c.3984G>A (p.Trp1328Ter)
NM_001355436.2(SPTB):c.3996C>T (p.Ile1332=)
NM_001355436.2(SPTB):c.3G>A (p.Met1Ile)
NM_001355436.2(SPTB):c.4002+19C>T
NM_001355436.2(SPTB):c.4002+209T>C rs229635
NM_001355436.2(SPTB):c.4002+20G>A
NM_001355436.2(SPTB):c.4002G>A (p.Ala1334=)
NM_001355436.2(SPTB):c.4003-265del rs58435859
NM_001355436.2(SPTB):c.4033C>T (p.Gln1345Ter) rs2139546760
NM_001355436.2(SPTB):c.4038dup (p.Thr1347fs)
NM_001355436.2(SPTB):c.404C>A (p.Ser135Tyr) rs2139637283
NM_001355436.2(SPTB):c.4052C>T (p.Ser1351Phe)
NM_001355436.2(SPTB):c.4054C>T (p.Gln1352Ter)
NM_001355436.2(SPTB):c.4071del (p.His1358fs)
NM_001355436.2(SPTB):c.409G>A (p.Asp137Asn)
NM_001355436.2(SPTB):c.4101del (p.Thr1368fs)
NM_001355436.2(SPTB):c.4127C>A (p.Ser1376Ter)
NM_001355436.2(SPTB):c.4129_4151del (p.Ala1377fs)
NM_001355436.2(SPTB):c.413T>C (p.Ile138Thr) rs2082930394
NM_001355436.2(SPTB):c.413T>G (p.Ile138Ser)
NM_001355436.2(SPTB):c.4146C>T (p.Asp1382=)
NM_001355436.2(SPTB):c.4156C>T (p.Gln1386Ter)
NM_001355436.2(SPTB):c.4164T>A (p.His1388Gln)
NM_001355436.2(SPTB):c.4177A>T (p.Lys1393Ter)
NM_001355436.2(SPTB):c.4182G>T (p.Trp1394Cys)
NM_001355436.2(SPTB):c.4201C>T (p.Gln1401Ter)
NM_001355436.2(SPTB):c.4212A>G (p.Ser1404=)
NM_001355436.2(SPTB):c.4224C>T (p.Gly1408=)
NM_001355436.2(SPTB):c.4247G>A (p.Arg1416Gln)
NM_001355436.2(SPTB):c.4266+5G>A
NM_001355436.2(SPTB):c.4266+5G>T
NM_001355436.2(SPTB):c.4267-1G>A
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter) rs1594767593
NM_001355436.2(SPTB):c.4278C>A (p.Asp1426Glu)
NM_001355436.2(SPTB):c.4278C>T (p.Asp1426=)
NM_001355436.2(SPTB):c.4291_4293delinsTGG (p.Arg1431Trp)
NM_001355436.2(SPTB):c.4310del (p.Glu1437fs)
NM_001355436.2(SPTB):c.432_435dup (p.Val146fs)
NM_001355436.2(SPTB):c.4346del (p.Gly1449fs)
NM_001355436.2(SPTB):c.4351dup (p.Asp1451fs)
NM_001355436.2(SPTB):c.4362G>A (p.Leu1454=)
NM_001355436.2(SPTB):c.4362G>C (p.Leu1454Phe)
NM_001355436.2(SPTB):c.4373dup (p.Arg1459fs)
NM_001355436.2(SPTB):c.4376G>A (p.Arg1459Gln)
NM_001355436.2(SPTB):c.4387dup (p.Leu1463fs)
NM_001355436.2(SPTB):c.4398_4399dup (p.Leu1467fs)
NM_001355436.2(SPTB):c.4399del (p.Pro1466_Leu1467insTer) rs2139533161
NM_001355436.2(SPTB):c.439del (p.Leu147fs)
NM_001355436.2(SPTB):c.4407_4410del (p.Lys1471fs) rs2139533094
NM_001355436.2(SPTB):c.4411A>T (p.Lys1471Ter)
NM_001355436.2(SPTB):c.4417C>T (p.Gln1473Ter)
NM_001355436.2(SPTB):c.4439_4445del (p.Lys1480fs)
NM_001355436.2(SPTB):c.443G>A (p.Gly148Asp) rs2082929857
NM_001355436.2(SPTB):c.443G>T (p.Gly148Val)
NM_001355436.2(SPTB):c.4443del (p.Gln1482fs)
NM_001355436.2(SPTB):c.4449C>T (p.Ile1483=)
NM_001355436.2(SPTB):c.4453C>A (p.Arg1485=)
NM_001355436.2(SPTB):c.4474-1G>A rs1311265074
NM_001355436.2(SPTB):c.4479G>A (p.Trp1493Ter)
NM_001355436.2(SPTB):c.4497_4500dup (p.Ala1501fs)
NM_001355436.2(SPTB):c.44C>G (p.Pro15Arg)
NM_001355436.2(SPTB):c.4505dup (p.Ser1503fs)
NM_001355436.2(SPTB):c.4512C>T (p.Ala1504=)
NM_001355436.2(SPTB):c.4540C>T (p.Gln1514Ter) rs2139530114
NM_001355436.2(SPTB):c.4545_4546dup (p.Phe1516fs)
NM_001355436.2(SPTB):c.4550T>G (p.Met1517Arg)
NM_001355436.2(SPTB):c.4555A>C (p.Lys1519Gln)
NM_001355436.2(SPTB):c.4563+12G>A
NM_001355436.2(SPTB):c.4563+12G>C rs1741489
NM_001355436.2(SPTB):c.4564-158C>G rs2012515
NM_001355436.2(SPTB):c.4564-3C>A
NM_001355436.2(SPTB):c.4564-9T>G rs2139515157
NM_001355436.2(SPTB):c.457ATC[1] (p.Ile154del)
NM_001355436.2(SPTB):c.4593G>A (p.Thr1531=)
NM_001355436.2(SPTB):c.4595C>T (p.Pro1532Leu)
NM_001355436.2(SPTB):c.4595_4596insTCAACCCGGCC (p.Arg1533fs)
NM_001355436.2(SPTB):c.4597C>T (p.Arg1533Trp)
NM_001355436.2(SPTB):c.4615C>T (p.Gln1539Ter)
NM_001355436.2(SPTB):c.4624C>T (p.Gln1542Ter)
NM_001355436.2(SPTB):c.463C>T (p.Leu155Phe)
NM_001355436.2(SPTB):c.467G>A (p.Arg156His)
NM_001355436.2(SPTB):c.4687C>T (p.Gln1563Ter)
NM_001355436.2(SPTB):c.4709G>A (p.Arg1570Gln)
NM_001355436.2(SPTB):c.4716_4729del (p.Gly1575fs)
NM_001355436.2(SPTB):c.4722del (p.Arg1576fs)
NM_001355436.2(SPTB):c.472C>T (p.Gln158Ter)
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter) rs760938057
NM_001355436.2(SPTB):c.4736G>A (p.Arg1579Gln)
NM_001355436.2(SPTB):c.474+110del rs3842325
NM_001355436.2(SPTB):c.474+13G>A rs201559808
NM_001355436.2(SPTB):c.474+1G>A
NM_001355436.2(SPTB):c.474+1G>T
NM_001355436.2(SPTB):c.474+6_474+12del
NM_001355436.2(SPTB):c.4747G>A (p.Ala1583Thr)
NM_001355436.2(SPTB):c.475-276T>C rs74056019
NM_001355436.2(SPTB):c.475-3C>G rs1373470306
NM_001355436.2(SPTB):c.475-5C>T
NM_001355436.2(SPTB):c.4751A>G (p.Asn1584Ser)
NM_001355436.2(SPTB):c.4767C>G (p.Tyr1589Ter) rs746722532
NM_001355436.2(SPTB):c.4787_4819del (p.Ala1596_Tyr1606del)
NM_001355436.2(SPTB):c.4791G>A (p.Glu1597=)
NM_001355436.2(SPTB):c.4807C>T (p.Gln1603Ter)
NM_001355436.2(SPTB):c.4819G>A (p.Val1607Ile)
NM_001355436.2(SPTB):c.4827C>T (p.Ser1609=)
NM_001355436.2(SPTB):c.4842+18A>C
NM_001355436.2(SPTB):c.4842+1G>A
NM_001355436.2(SPTB):c.4842+8C>T
NM_001355436.2(SPTB):c.4857C>A (p.Ala1619=)
NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter) rs2139511447
NM_001355436.2(SPTB):c.4880del (p.Leu1627fs)
NM_001355436.2(SPTB):c.4888C>T (p.Gln1630Ter)
NM_001355436.2(SPTB):c.4892G>T (p.Arg1631Leu)
NM_001355436.2(SPTB):c.4892del (p.Arg1631fs)
NM_001355436.2(SPTB):c.4894_4906dup (p.Tyr1636fs)
NM_001355436.2(SPTB):c.4895C>T (p.Ala1632Val)
NM_001355436.2(SPTB):c.4897G>A (p.Val1633Met)
NM_001355436.2(SPTB):c.4912C>T (p.Arg1638Trp)
NM_001355436.2(SPTB):c.4924C>T (p.Gln1642Ter)
NM_001355436.2(SPTB):c.4934G>A (p.Ser1645Asn)
NM_001355436.2(SPTB):c.4936C>T (p.Arg1646Trp)
NM_001355436.2(SPTB):c.4946G>A (p.Gly1649Asp)
NM_001355436.2(SPTB):c.4951C>T (p.Leu1651=)
NM_001355436.2(SPTB):c.4965C>A (p.His1655Gln)
NM_001355436.2(SPTB):c.4973+13C>T
NM_001355436.2(SPTB):c.4973+5G>A rs1555367789
NM_001355436.2(SPTB):c.4973+5G>C
NM_001355436.2(SPTB):c.4973G>A (p.Gly1658Glu)
NM_001355436.2(SPTB):c.4974-2A>G
NM_001355436.2(SPTB):c.4983del (p.Ile1662fs)
NM_001355436.2(SPTB):c.4996G>T (p.Gly1666Trp)
NM_001355436.2(SPTB):c.5000_5001insGCCC (p.Val1668fs) rs2082308925
NM_001355436.2(SPTB):c.5016dup (p.Ala1673fs)
NM_001355436.2(SPTB):c.5032G>A (p.Val1678Met)
NM_001355436.2(SPTB):c.5038G>T (p.Glu1680Ter) rs868011757
NM_001355436.2(SPTB):c.5071C>A (p.His1691Asn)
NM_001355436.2(SPTB):c.5080C>T (p.Gln1694Ter)
NM_001355436.2(SPTB):c.5100C>T (p.Asp1700=)
NM_001355436.2(SPTB):c.5101G>A (p.Asp1701Asn)
NM_001355436.2(SPTB):c.5110C>T (p.Gln1704Ter)
NM_001355436.2(SPTB):c.5114G>A (p.Trp1705Ter)
NM_001355436.2(SPTB):c.515C>T (p.Thr172Ile)
NM_001355436.2(SPTB):c.5173G>A (p.Val1725Met)
NM_001355436.2(SPTB):c.5176del (p.Thr1726fs)
NM_001355436.2(SPTB):c.5178+18C>T
NM_001355436.2(SPTB):c.5178+2_5178+3del
NM_001355436.2(SPTB):c.5178+6T>C
NM_001355436.2(SPTB):c.5178del (p.Leu1727fs)
NM_001355436.2(SPTB):c.5185C>G (p.Arg1729Gly) rs753928257
NM_001355436.2(SPTB):c.5185C>T (p.Arg1729Trp)
NM_001355436.2(SPTB):c.518G>A (p.Arg173His)
NM_001355436.2(SPTB):c.5191A>T (p.Lys1731Ter)
NM_001355436.2(SPTB):c.5197C>T (p.Arg1733Trp)
NM_001355436.2(SPTB):c.5197del (p.Arg1733fs)
NM_001355436.2(SPTB):c.5198G>A (p.Arg1733Gln)
NM_001355436.2(SPTB):c.5209C>T (p.Arg1737Trp)
NM_001355436.2(SPTB):c.5209del (p.Arg1737fs)
NM_001355436.2(SPTB):c.5218G>A (p.Gly1740Arg)
NM_001355436.2(SPTB):c.5223G>A (p.Ala1741=)
NM_001355436.2(SPTB):c.5227G>A (p.Gly1743Arg)
NM_001355436.2(SPTB):c.5233G>C (p.Glu1745Gln)
NM_001355436.2(SPTB):c.5236C>T (p.Arg1746Trp)
NM_001355436.2(SPTB):c.5237G>A (p.Arg1746Gln)
NM_001355436.2(SPTB):c.5242_5243del (p.Asp1748fs)
NM_001355436.2(SPTB):c.5243_5244insAA (p.Asp1748fs) rs2139504105
NM_001355436.2(SPTB):c.5263G>A (p.Glu1755Lys)
NM_001355436.2(SPTB):c.5265G>A (p.Glu1755=)
NM_001355436.2(SPTB):c.5266C>T (p.Arg1756Ter) rs267607086
NM_001355436.2(SPTB):c.5267_5297del (p.Arg1756fs)
NM_001355436.2(SPTB):c.5275G>A (p.Asp1759Asn)
NM_001355436.2(SPTB):c.5289C>T (p.Ser1763=)
NM_001355436.2(SPTB):c.5290G>T (p.Glu1764Ter)
NM_001355436.2(SPTB):c.5313G>A (p.Trp1771Ter)
NM_001355436.2(SPTB):c.5329G>T (p.Glu1777Ter) rs763816993
NM_001355436.2(SPTB):c.5330A>C (p.Glu1777Ala)
NM_001355436.2(SPTB):c.5337G>A (p.Trp1779Ter)
NM_001355436.2(SPTB):c.534G>A (p.Ala178=)
NM_001355436.2(SPTB):c.5350G>A (p.Glu1784Lys)
NM_001355436.2(SPTB):c.5362_5363del (p.Thr1788fs)
NM_001355436.2(SPTB):c.5366G>A (p.Arg1789His)
NM_001355436.2(SPTB):c.5368A>G (p.Met1790Val)
NM_001355436.2(SPTB):c.5401C>T (p.Arg1801Cys)
NM_001355436.2(SPTB):c.5402G>A (p.Arg1801His)
NM_001355436.2(SPTB):c.5406C>T (p.Tyr1802=)
NM_001355436.2(SPTB):c.540_541dup (p.Leu181fs)
NM_001355436.2(SPTB):c.5414C>T (p.Thr1805Met)
NM_001355436.2(SPTB):c.542T>A (p.Leu181Ter) rs2139632228
NM_001355436.2(SPTB):c.543GTG[1] (p.Trp182del) rs2139632206
NM_001355436.2(SPTB):c.544T>G (p.Trp182Gly)
NM_001355436.2(SPTB):c.5455G>A (p.Glu1819Lys)
NM_001355436.2(SPTB):c.5455_5456delinsTT (p.Glu1819Leu)
NM_001355436.2(SPTB):c.5462C>T (p.Pro1821Leu)
NM_001355436.2(SPTB):c.5464G>A (p.Glu1822Lys)
NM_001355436.2(SPTB):c.546G>T (p.Trp182Cys)
NM_001355436.2(SPTB):c.548G>A (p.Cys183Tyr)
NM_001355436.2(SPTB):c.5493dup (p.Glu1832fs)
NM_001355436.2(SPTB):c.5494G>T (p.Glu1832Ter) rs532526634
NM_001355436.2(SPTB):c.5506C>T (p.Arg1836Trp)
NM_001355436.2(SPTB):c.5528G>A (p.Arg1843Gln)
NM_001355436.2(SPTB):c.5528_5535del (p.Arg1843fs) rs2139502154
NM_001355436.2(SPTB):c.5553+15dup rs368080074
NM_001355436.2(SPTB):c.5553+4C>T
NM_001355436.2(SPTB):c.5566C>T (p.Gln1856Ter)
NM_001355436.2(SPTB):c.5571C>T (p.Asp1857=)
NM_001355436.2(SPTB):c.5581C>T (p.Arg1861Cys)
NM_001355436.2(SPTB):c.559A>C (p.Thr187Pro)
NM_001355436.2(SPTB):c.5650G>A (p.Ala1884Thr) rs373473270
NM_001355436.2(SPTB):c.5652G>A (p.Ala1884=) rs146536978
NM_001355436.2(SPTB):c.5654G>A (p.Trp1885Ter)
NM_001355436.2(SPTB):c.566+1G>A rs2082900460
NM_001355436.2(SPTB):c.566+1G>T
NM_001355436.2(SPTB):c.566+5_566+6del rs2139632086
NM_001355436.2(SPTB):c.567-166T>C rs45617438
NM_001355436.2(SPTB):c.567-1G>C
NM_001355436.2(SPTB):c.567-7G>T
NM_001355436.2(SPTB):c.5684G>A (p.Arg1895His)
NM_001355436.2(SPTB):c.5686_5692dup (p.Gln1898fs)
NM_001355436.2(SPTB):c.5689A>G (p.Thr1897Ala)
NM_001355436.2(SPTB):c.5692C>T (p.Gln1898Ter) rs1398484902
NM_001355436.2(SPTB):c.5705C>T (p.Thr1902Met)
NM_001355436.2(SPTB):c.5708C>T (p.Ala1903Val)
NM_001355436.2(SPTB):c.5719C>T (p.Arg1907Cys)
NM_001355436.2(SPTB):c.5720G>A (p.Arg1907His)
NM_001355436.2(SPTB):c.5731dup (p.Met1911fs)
NM_001355436.2(SPTB):c.5732dup (p.Met1911fs)
NM_001355436.2(SPTB):c.5748C>G (p.Leu1916=)
NM_001355436.2(SPTB):c.5756T>C (p.Met1919Thr)
NM_001355436.2(SPTB):c.5763C>G (p.Ser1921Arg)
NM_001355436.2(SPTB):c.5770C>T (p.Arg1924Trp)
NM_001355436.2(SPTB):c.5771G>A (p.Arg1924Gln)
NM_001355436.2(SPTB):c.5778C>T (p.Ile1926=)
NM_001355436.2(SPTB):c.5789_5798+1del
NM_001355436.2(SPTB):c.5798+1G>A
NM_001355436.2(SPTB):c.5798+8G>T
NM_001355436.2(SPTB):c.5798G>A (p.Arg1933Lys)
NM_001355436.2(SPTB):c.5799-1G>A
NM_001355436.2(SPTB):c.5799-1G>C
NM_001355436.2(SPTB):c.5799-20C>G
NM_001355436.2(SPTB):c.5799-3C>A rs757579872
NM_001355436.2(SPTB):c.57_66dup (p.Trp23fs)
NM_001355436.2(SPTB):c.5801dup (p.Asp1934fs)
NM_001355436.2(SPTB):c.5838G>A (p.Gln1946=)
NM_001355436.2(SPTB):c.5850del (p.Glu1951fs)
NM_001355436.2(SPTB):c.5851_5852insC (p.Glu1951fs)
NM_001355436.2(SPTB):c.5856del (p.Ile1952fs)
NM_001355436.2(SPTB):c.5886C>A (p.Cys1962Ter)
NM_001355436.2(SPTB):c.5898C>T (p.Gly1966=) rs2139488882
NM_001355436.2(SPTB):c.5899G>A (p.Glu1967Lys)
NM_001355436.2(SPTB):c.5902del (p.Ser1968fs)
NM_001355436.2(SPTB):c.590A>G (p.Asn197Ser)
NM_001355436.2(SPTB):c.5937+7G>A
NM_001355436.2(SPTB):c.5938-1G>A
NM_001355436.2(SPTB):c.5941del (p.Arg1981fs) rs2139486055
NM_001355436.2(SPTB):c.5949del (p.Lys1983fs)
NM_001355436.2(SPTB):c.5975_5976del (p.Lys1992fs)
NM_001355436.2(SPTB):c.5985dup (p.Glu1996Ter)
NM_001355436.2(SPTB):c.5993G>A (p.Trp1998Ter)
NM_001355436.2(SPTB):c.5994G>A (p.Trp1998Ter)
NM_001355436.2(SPTB):c.6005G>A (p.Trp2002Ter)
NM_001355436.2(SPTB):c.6010C>G (p.Arg2004Gly)
NM_001355436.2(SPTB):c.6011G>A (p.Arg2004Gln)
NM_001355436.2(SPTB):c.6015C>G (p.Leu2005=)
NM_001355436.2(SPTB):c.6017G>A (p.Arg2006His)
NM_001355436.2(SPTB):c.6017G>C (p.Arg2006Pro)
NM_001355436.2(SPTB):c.6017G>T (p.Arg2006Leu) rs767230972
NM_001355436.2(SPTB):c.6023-30G>A
NM_001355436.2(SPTB):c.6037C>T (p.Gln2013Ter)
NM_001355436.2(SPTB):c.6053C>A (p.Ala2018Asp) rs121918647
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro) rs121918648
NM_001355436.2(SPTB):c.6056C>T (p.Ser2019Phe)
NM_001355436.2(SPTB):c.6069G>A (p.Ala2023=)
NM_001355436.2(SPTB):c.6071G>A (p.Trp2024Ter)
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) rs121918649
NM_001355436.2(SPTB):c.6102C>T (p.Ser2034=)
NM_001355436.2(SPTB):c.6109_6112delinsCTTT (p.Phe2037_Gly2038delinsLeuTer)
NM_001355436.2(SPTB):c.610G>A (p.Asp204Asn)
NM_001355436.2(SPTB):c.6119_6120del (p.Thr2040fs) rs2139480757
NM_001355436.2(SPTB):c.611A>T (p.Asp204Val)
NM_001355436.2(SPTB):c.612T>C (p.Asp204=)
NM_001355436.2(SPTB):c.6161T>C (p.Phe2054Ser)
NM_001355436.2(SPTB):c.6168dup (p.Ser2057fs)
NM_001355436.2(SPTB):c.6188_6189del (p.Glu2063fs)
NM_001355436.2(SPTB):c.6219_6219+13del
NM_001355436.2(SPTB):c.6223G>C (p.Glu2075Gln) rs2139479145
NM_001355436.2(SPTB):c.6224A>G (p.Glu2075Gly) rs1235889026
NM_001355436.2(SPTB):c.6242T>C (p.Ile2081Thr)
NM_001355436.2(SPTB):c.6269+6T>A
NM_001355436.2(SPTB):c.6269+6T>C
NM_001355436.2(SPTB):c.6270-8_6270-6dup rs528966701
NM_001355436.2(SPTB):c.629C>A (p.Ala210Asp) rs2139630327
NM_001355436.2(SPTB):c.6346-4G>C
NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del) rs750154106
NM_001355436.2(SPTB):c.636A>G (p.Ile212Met)
NM_001355436.2(SPTB):c.6379C>A (p.Gln2127Lys)
NM_001355436.2(SPTB):c.6396G>C (p.Pro2132=)
NM_001355436.2(SPTB):c.639C>T (p.His213=)
NM_001355436.2(SPTB):c.640A>T (p.Lys214Ter)
NM_001355436.2(SPTB):c.6473C>A (p.Thr2158Lys)
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001355436.2(SPTB):c.648-20C>T
NM_001355436.2(SPTB):c.648-2A>G rs2139628826
NM_001355436.2(SPTB):c.648-2A>T
NM_001355436.2(SPTB):c.648-36_648-17del
NM_001355436.2(SPTB):c.6483C>T (p.Ser2161=) rs143820600
NM_001355436.2(SPTB):c.64C>T (p.Arg22Cys)
NM_001355436.2(SPTB):c.6503C>T (p.Thr2168Met)
NM_001355436.2(SPTB):c.6509C>T (p.Pro2170Leu)
NM_001355436.2(SPTB):c.6518G>C (p.Arg2173Pro)
NM_001355436.2(SPTB):c.651del (p.Asp218fs)
NM_001355436.2(SPTB):c.652G>A (p.Asp218Asn)
NM_001355436.2(SPTB):c.656T>C (p.Leu219Pro) rs1566772276
NM_001355436.2(SPTB):c.65G>A (p.Arg22His)
NM_001355436.2(SPTB):c.661G>A (p.Asp221Asn)
NM_001355436.2(SPTB):c.68G>A (p.Trp23Ter)
NM_001355436.2(SPTB):c.691C>T (p.Arg231Trp)
NM_001355436.2(SPTB):c.709G>C (p.Ala237Pro)
NM_001355436.2(SPTB):c.724G>T (p.Glu242Ter) rs2139628367
NM_001355436.2(SPTB):c.742dup (p.Ile248fs) rs2139628261
NM_001355436.2(SPTB):c.753C>T (p.Leu251=)
NM_001355436.2(SPTB):c.760G>T (p.Glu254Ter)
NM_001355436.2(SPTB):c.763+1G>A
NM_001355436.2(SPTB):c.764-14del
NM_001355436.2(SPTB):c.764-2A>G
NM_001355436.2(SPTB):c.764-3C>G
NM_001355436.2(SPTB):c.77del (p.Pro26fs)
NM_001355436.2(SPTB):c.782del (p.Pro261fs)
NM_001355436.2(SPTB):c.81C>T (p.Asp27=)
NM_001355436.2(SPTB):c.823_825del (p.His275del)
NM_001355436.2(SPTB):c.828C>A (p.Tyr276Ter)
NM_001355436.2(SPTB):c.830_832del (p.Phe277del)
NM_001355436.2(SPTB):c.832_834del (p.Ser278del)
NM_001355436.2(SPTB):c.844del (p.Val282fs)
NM_001355436.2(SPTB):c.85G>T (p.Glu29Ter)
NM_001355436.2(SPTB):c.875A>G (p.Lys292Arg)
NM_001355436.2(SPTB):c.876+1G>C
NM_001355436.2(SPTB):c.877-15_877-1del
NM_001355436.2(SPTB):c.877-19T>G rs1477492870
NM_001355436.2(SPTB):c.877-1_886del
NM_001355436.2(SPTB):c.877-3T>C
NM_001355436.2(SPTB):c.877G>T (p.Val293Phe)
NM_001355436.2(SPTB):c.908T>C (p.Met303Thr)
NM_001355436.2(SPTB):c.909G>A (p.Met303Ile)
NM_001355436.2(SPTB):c.913G>A (p.Glu305Lys)
NM_001355436.2(SPTB):c.921C>G (p.Tyr307Ter)
NM_001355436.2(SPTB):c.921C>T (p.Tyr307=)
NM_001355436.2(SPTB):c.924C>T (p.Ser308=)
NM_001355436.2(SPTB):c.925G>A (p.Gly309Arg)
NM_001355436.2(SPTB):c.933C>A (p.Ala311=)
NM_001355436.2(SPTB):c.944_958del (p.Leu315_Glu319del)
NM_001355436.2(SPTB):c.951G>A (p.Trp317Ter)
NM_001355436.2(SPTB):c.964A>G (p.Ile322Val)
NM_001355436.2(SPTB):c.972C>T (p.Val324=)
NM_001355436.2(SPTB):c.983_984del (p.Arg328fs)
NM_001355436.2(SPTB):c.985_1000del (p.Arg328_Lys329insTer)

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