ClinVar Miner

List of variants in gene SPTAN1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 631
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.1573-180G>A rs4384085 0.99656
NM_001130438.3(SPTAN1):c.6762+251dup rs11442134 0.99651
NM_001130438.3(SPTAN1):c.6576+94_6576+95insAA rs10694437 0.99191
NM_001130438.3(SPTAN1):c.2779-172A>G rs7026966 0.96938
NM_001130438.3(SPTAN1):c.1221+321T>C rs4837281 0.96936
NM_001130438.3(SPTAN1):c.1086-83A>G rs4837280 0.96934
NM_001130438.3(SPTAN1):c.2194-82A>G rs4240431 0.96934
NM_001130438.3(SPTAN1):c.1222-274T>C rs7031524 0.96928
NM_001130438.3(SPTAN1):c.237+335G>A rs9696395 0.96925
NM_001130438.3(SPTAN1):c.5601-156T>C rs4837290 0.96909
NM_001130438.3(SPTAN1):c.2560+43G>A rs4836615 0.96851
NM_001130438.3(SPTAN1):c.4905+41C>G rs7024498 0.96844
NM_001130438.3(SPTAN1):c.505-176C>T rs2297767 0.96797
NM_001130438.3(SPTAN1):c.3007-212A>G rs10819419 0.96725
NM_001130438.3(SPTAN1):c.2871+228A>C rs4837287 0.96666
NM_001130438.3(SPTAN1):c.2779-112G>A rs7027388 0.96624
NM_001130438.3(SPTAN1):c.3155+85G>A rs3814530 0.93816
NM_001130438.3(SPTAN1):c.6708-47G>A rs7866175 0.93246
NM_001130438.3(SPTAN1):c.4491+201T>C rs7357662 0.91235
NM_001130438.3(SPTAN1):c.3580-246C>G rs6478841 0.90189
NM_001130438.3(SPTAN1):c.2871+135A>G rs4837286 0.90114
NM_001130438.3(SPTAN1):c.6763-109A>G rs10760569 0.88837
NM_001130438.3(SPTAN1):c.1221+286T>A rs1890104 0.78340
NM_001130438.3(SPTAN1):c.5478+110C>G rs3750332 0.76653
NM_001130438.3(SPTAN1):c.2778+196C>G rs11790032 0.75132
NM_001130438.3(SPTAN1):c.6576+228G>C rs10760568 0.75073
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=) rs2227864 0.74835
NM_001130438.3(SPTAN1):c.651+219A>G rs2297771 0.74821
NM_001130438.3(SPTAN1):c.2778+257G>A rs10988049 0.72950
NM_001130438.3(SPTAN1):c.505-89C>T rs2297768 0.72385
NM_001130438.3(SPTAN1):c.363+144C>T rs2152833 0.72336
NM_001130438.3(SPTAN1):c.2560+47C>T rs4837284 0.72327
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=) rs2227862 0.72171
NM_001130438.3(SPTAN1):c.3627+201G>A rs4837289 0.71855
NM_001130438.3(SPTAN1):c.6280-27C>T rs3737308 0.71407
NM_001130438.3(SPTAN1):c.364-304G>T rs7047416 0.70536
NM_001130438.3(SPTAN1):c.5479-41A>C rs7864187 0.22153
NM_001130438.3(SPTAN1):c.6707+251C>A rs7857728 0.19740
NM_001130438.3(SPTAN1):c.6577-121C>T rs1572914 0.17941
NM_001130438.3(SPTAN1):c.6576+249T>C rs7038602 0.16613
NM_001130438.3(SPTAN1):c.363+274A>G rs3763599 0.15591
NM_001130438.3(SPTAN1):c.1222-247G>A rs7046238 0.15213
NM_001130438.3(SPTAN1):c.4758+109G>T rs13299607 0.11884
NM_001130438.3(SPTAN1):c.6708-78C>T rs41308912 0.07163
NM_001130438.3(SPTAN1):c.3006+100G>C rs62584843 0.03873
NM_001130438.3(SPTAN1):c.1222-273G>A rs77103380 0.03384
NM_001130438.3(SPTAN1):c.3156-221C>T rs76196653 0.03382
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) rs945831 0.03378
NM_001130438.3(SPTAN1):c.5044-276G>T rs117630545 0.03158
NM_001130438.3(SPTAN1):c.651+113G>A rs10513498 0.03081
NM_001130438.3(SPTAN1):c.2779-143T>C rs74813851 0.03050
NM_001130438.3(SPTAN1):c.5358-214C>T rs76393340 0.03035
NM_001130438.3(SPTAN1):c.2011+94A>G rs76531514 0.03006
NM_001130438.3(SPTAN1):c.6708-244C>T rs12003066 0.02926
NM_001130438.3(SPTAN1):c.2872-42G>A rs4307429 0.02839
NM_001130438.3(SPTAN1):c.504+159_504+160insGC rs767942809 0.02581
NM_001130438.3(SPTAN1):c.504+161_504+162insC rs761013466 0.02581
NM_001130438.3(SPTAN1):c.504+162_504+163insCTCTAG rs757456517 0.02580
NM_001130438.3(SPTAN1):c.504+157_504+158insCTCTCCAGCTCTCC rs765490751 0.02579
NM_001130438.3(SPTAN1):c.4491+289G>A rs77315490 0.02518
NM_001130438.3(SPTAN1):c.3520-209A>G rs112064644 0.02517
NM_001130438.3(SPTAN1):c.4773+323G>A rs74482094 0.02511
NM_001130438.3(SPTAN1):c.3579+225C>T rs79268762 0.02506
NM_001130438.3(SPTAN1):c.3580-279C>G rs78856736 0.02447
NM_001130438.3(SPTAN1):c.6707+118A>G rs114576138 0.02441
NM_001130438.3(SPTAN1):c.2012-146T>C rs78064656 0.02432
NM_001130438.3(SPTAN1):c.3627+312C>T rs114198206 0.02408
NM_001130438.3(SPTAN1):c.3520-93A>G rs78493234 0.02287
NM_001130438.3(SPTAN1):c.3155+153G>C rs76781152 0.02285
NM_001130438.3(SPTAN1):c.1462-27T>A rs7040737 0.02284
NM_001130438.3(SPTAN1):c.6707+220G>A rs7857827 0.02279
NM_001130438.3(SPTAN1):c.4774-223A>G rs77594718 0.02127
NM_001130438.3(SPTAN1):c.6576+131dup rs150387180 0.02073
NM_001130438.3(SPTAN1):c.6707+139G>A rs77733303 0.01984
NM_001130438.3(SPTAN1):c.6576+284C>T rs117848582 0.01948
NM_001130438.3(SPTAN1):c.2011+28A>G rs76614650 0.01942
NM_001130438.3(SPTAN1):c.3415-125T>C rs868454686 0.01931
NM_001130438.3(SPTAN1):c.3415-305T>C rs112479500 0.01743
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333 0.01558
NM_001130438.3(SPTAN1):c.5601-319C>T rs140253935 0.01321
NM_001130438.3(SPTAN1):c.5358-195A>G rs77926333 0.01278
NM_001130438.3(SPTAN1):c.3520-214T>A rs35249383 0.01223
NM_001130438.3(SPTAN1):c.5734-234G>T rs117190550 0.01086
NM_001130438.3(SPTAN1):c.6577-145C>T rs148933269 0.00999
NM_001130438.3(SPTAN1):c.6576+193C>A rs116561220 0.00966
NM_001130438.3(SPTAN1):c.3579+114G>A rs117664291 0.00961
NM_001130438.3(SPTAN1):c.2011+125A>C rs118148397 0.00941
NM_001130438.3(SPTAN1):c.2194-89G>A rs28605457 0.00934
NM_001130438.3(SPTAN1):c.6762+151A>C rs139321348 0.00904
NM_001130438.3(SPTAN1):c.1085+113A>G rs945829 0.00800
NM_001130438.3(SPTAN1):c.6576+130T>C rs182480392 0.00720
NM_001130438.3(SPTAN1):c.1572+143A>G rs114952624 0.00695
NM_001130438.3(SPTAN1):c.7308+30T>C rs138965195 0.00682
NM_001130438.3(SPTAN1):c.3579+228A>G rs78117059 0.00665
NM_001130438.3(SPTAN1):c.1085+70_1085+71insCTTC rs138499933 0.00654
NM_001130438.3(SPTAN1):c.1222-95A>G rs112047036 0.00651
NM_001130438.3(SPTAN1):c.3579+258G>A rs113208670 0.00649
NM_001130438.3(SPTAN1):c.3579+164G>C rs75537926 0.00648
NM_001130438.3(SPTAN1):c.5149-187G>A rs79176107 0.00647
NM_001130438.3(SPTAN1):c.4046+155T>A rs111846527 0.00646
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915 0.00645
NM_001130438.3(SPTAN1):c.5478+83A>G rs112462793 0.00643
NM_001130438.3(SPTAN1):c.1462-297A>C rs12002404 0.00640
NM_001130438.3(SPTAN1):c.4492-183A>G rs140456277 0.00635
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_001130438.3(SPTAN1):c.237+216G>A rs57777140 0.00540
NM_001130438.3(SPTAN1):c.1573-250G>A rs185379907 0.00538
NM_001130438.3(SPTAN1):c.7014-31C>G rs112372253 0.00524
NM_001130438.3(SPTAN1):c.5601-167C>T rs572863471 0.00483
NM_001130438.3(SPTAN1):c.651+271T>C rs79677350 0.00476
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276 0.00436
NM_001130438.3(SPTAN1):c.7308+50C>T rs116114254 0.00436
NM_001130438.3(SPTAN1):c.3720-206G>A rs12351128 0.00427
NM_001130438.3(SPTAN1):c.1323+65A>G rs148439588 0.00405
NM_001130438.3(SPTAN1):c.1462-293del rs1195834537 0.00405
NM_001130438.3(SPTAN1):c.3628-199T>C rs147717209 0.00398
NM_001130438.3(SPTAN1):c.2872-209C>T rs145971007 0.00392
NM_001130438.3(SPTAN1):c.6549C>A (p.Thr2183=) rs116778543 0.00379
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val) rs11543347 0.00370
NM_001130438.3(SPTAN1):c.3627+164C>T rs115221736 0.00369
NM_001130438.3(SPTAN1):c.5148+327C>T rs138576972 0.00367
NM_001130438.3(SPTAN1):c.7160+27G>A rs143392181 0.00367
NM_001130438.3(SPTAN1):c.5600+199T>A rs151206158 0.00364
NM_001130438.3(SPTAN1):c.1085+35T>C rs116465900 0.00362
NM_001130438.3(SPTAN1):c.6279+67G>C rs145283248 0.00346
NM_001130438.3(SPTAN1):c.6707+80G>C rs375648005 0.00328
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996 0.00175
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904 0.00175
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388 0.00161
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727 0.00154
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543 0.00133
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002 0.00130
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_001130438.3(SPTAN1):c.1806+34G>A rs80262973 0.00126
NM_001130438.3(SPTAN1):c.5148+41A>G rs145566452 0.00124
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068 0.00113
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=) rs150731568 0.00101
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077 0.00097
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001130438.3(SPTAN1):c.5478+12G>A rs41275900 0.00067
NM_001130438.3(SPTAN1):c.7309-15T>C rs370705867 0.00067
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005 0.00066
NM_001130438.3(SPTAN1):c.6763-44G>A rs148133620 0.00061
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_001130438.3(SPTAN1):c.6408G>C (p.Glu2136Asp) rs199930602 0.00058
NM_001130438.3(SPTAN1):c.2560+36G>A rs186769459 0.00056
NM_001130438.3(SPTAN1):c.1650+34T>C rs138030661 0.00054
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378 0.00050
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598 0.00046
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=) rs150902677 0.00046
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792 0.00045
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val) rs144649618 0.00043
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089 0.00041
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898 0.00036
NM_001130438.3(SPTAN1):c.1324-13C>G rs199839122 0.00035
NM_001130438.3(SPTAN1):c.2753A>G (p.Tyr918Cys) rs138275607 0.00033
NM_001130438.3(SPTAN1):c.480C>T (p.Asp160=) rs201249013 0.00031
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692 0.00029
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424 0.00028
NM_001130438.3(SPTAN1):c.3518A>C (p.Gln1173Pro) rs141696651 0.00027
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623 0.00027
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523 0.00026
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=) rs145870898 0.00024
NM_001130438.3(SPTAN1):c.5301A>G (p.Glu1767=) rs200641770 0.00021
NM_001130438.3(SPTAN1):c.3693C>T (p.Ser1231=) rs142305088 0.00020
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676 0.00019
NM_001130438.3(SPTAN1):c.505-14T>C rs372907681 0.00019
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498 0.00019
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636 0.00019
NM_001130438.3(SPTAN1):c.2011+10G>A rs377437879 0.00018
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=) rs140418358 0.00016
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn) rs199720383 0.00014
NM_001130438.3(SPTAN1):c.4239C>T (p.Ser1413=) rs150097844 0.00014
NM_001130438.3(SPTAN1):c.5171G>T (p.Ser1724Ile) rs375195855 0.00014
NM_001130438.3(SPTAN1):c.5439G>T (p.Arg1813=) rs766924448 0.00014
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736 0.00014
NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=) rs147233101 0.00012
NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu) rs139113273 0.00012
NM_001130438.3(SPTAN1):c.4543G>A (p.Gly1515Ser) rs149899658 0.00012
NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=) rs138634476 0.00012
NM_001130438.3(SPTAN1):c.7366G>A (p.Gly2456Ser) rs199866550 0.00012
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr) rs1427892796 0.00011
NM_001130438.3(SPTAN1):c.4147-13C>G rs374834326 0.00011
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552 0.00011
NM_001130438.3(SPTAN1):c.7296G>A (p.Glu2432=) rs765393647 0.00011
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His) rs140076136 0.00011
NM_001130438.3(SPTAN1):c.5820C>T (p.Asp1940=) rs147815147 0.00010
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880 0.00009
NM_001130438.3(SPTAN1):c.2438-15G>A rs201319189 0.00009
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051 0.00009
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801 0.00009
NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=) rs200180598 0.00009
NM_001130438.3(SPTAN1):c.6190G>A (p.Ala2064Thr) rs201411901 0.00009
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764 0.00009
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser) rs752578570 0.00009
NM_001130438.3(SPTAN1):c.7360G>A (p.Val2454Met) rs766616293 0.00009
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437 0.00008
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp) rs374682395 0.00008
NM_001130438.3(SPTAN1):c.3803T>C (p.Val1268Ala) rs146153626 0.00008
NM_001130438.3(SPTAN1):c.5236A>G (p.Thr1746Ala) rs756560952 0.00008
NM_001130438.3(SPTAN1):c.6081C>T (p.Asp2027=) rs150801649 0.00008
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398 0.00008
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649 0.00008
NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln) rs560719289 0.00007
NM_001130438.3(SPTAN1):c.7391C>T (p.Ala2464Val) rs139070536 0.00007
NM_001130438.3(SPTAN1):c.1512G>A (p.Ala504=) rs141424626 0.00006
NM_001130438.3(SPTAN1):c.1633G>T (p.Ala545Ser) rs1003067844 0.00006
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr) rs766491965 0.00006
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met) rs375623472 0.00006
NM_001130438.3(SPTAN1):c.4485C>T (p.Asn1495=) rs767175912 0.00006
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616 0.00006
NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser) rs200248814 0.00006
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg) rs142498180 0.00006
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr) rs145054594 0.00006
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser) rs200241514 0.00005
NM_001130438.3(SPTAN1):c.2871+8T>C rs1485998372 0.00005
NM_001130438.3(SPTAN1):c.3639G>A (p.Glu1213=) rs750007543 0.00005
NM_001130438.3(SPTAN1):c.5331C>T (p.Asp1777=) rs758017157 0.00005
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr) rs544843583 0.00005
NM_001130438.3(SPTAN1):c.-3-18C>T rs368470565 0.00004
NM_001130438.3(SPTAN1):c.1274A>G (p.Gln425Arg) rs11792065 0.00004
NM_001130438.3(SPTAN1):c.1338C>T (p.Ser446=) rs185614333 0.00004
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951 0.00004
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) rs968327265 0.00004
NM_001130438.3(SPTAN1):c.3030C>T (p.Asn1010=) rs202129574 0.00004
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=) rs372807389 0.00004
NM_001130438.3(SPTAN1):c.3510G>A (p.Val1170=) rs935038001 0.00004
NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp) rs771862017 0.00004
NM_001130438.3(SPTAN1):c.4309C>T (p.Arg1437Cys) rs373033857 0.00004
NM_001130438.3(SPTAN1):c.4345-14C>T rs201755611 0.00004
NM_001130438.3(SPTAN1):c.5907T>C (p.Ala1969=) rs768986492 0.00004
NM_001130438.3(SPTAN1):c.603T>C (p.His201=) rs370807034 0.00004
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys) rs775190610 0.00004
NM_001130438.3(SPTAN1):c.6876C>T (p.Thr2292=) rs886063509 0.00004
NM_001130438.3(SPTAN1):c.7135A>G (p.Ile2379Val) rs770358940 0.00004
NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp) rs144590741 0.00003
NM_001130438.3(SPTAN1):c.1954C>T (p.Arg652Cys) rs779838514 0.00003
NM_001130438.3(SPTAN1):c.2572G>T (p.Ala858Ser) rs1185428521 0.00003
NM_001130438.3(SPTAN1):c.3248G>A (p.Arg1083His) rs369611161 0.00003
NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr) rs776648566 0.00003
NM_001130438.3(SPTAN1):c.4479G>A (p.Ala1493=) rs201716851 0.00003
NM_001130438.3(SPTAN1):c.497A>G (p.Asn166Ser) rs139943747 0.00003
NM_001130438.3(SPTAN1):c.5239A>G (p.Ile1747Val) rs780622472 0.00003
NM_001130438.3(SPTAN1):c.5340C>T (p.Asp1780=) rs549528366 0.00003
NM_001130438.3(SPTAN1):c.5553G>A (p.Ala1851=) rs759088264 0.00003
NM_001130438.3(SPTAN1):c.6151G>A (p.Ala2051Thr) rs777950008 0.00003
NM_001130438.3(SPTAN1):c.6499G>A (p.Val2167Ile) rs371095095 0.00003
NM_001130438.3(SPTAN1):c.6689+10C>T rs769263723 0.00003
NM_001130438.3(SPTAN1):c.7014-16C>T rs137913528 0.00003
NM_001130438.3(SPTAN1):c.7083C>T (p.Gly2361=) rs1282937209 0.00003
NM_001130438.3(SPTAN1):c.7128C>T (p.Phe2376=) rs369792563 0.00003
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085 0.00003
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His) rs796053314 0.00002
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser) rs201947293 0.00002
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631 0.00002
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922 0.00002
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser) rs371178746 0.00002
NM_001130438.3(SPTAN1):c.1770T>G (p.Asn590Lys) rs781048881 0.00002
NM_001130438.3(SPTAN1):c.237+5G>A rs747501430 0.00002
NM_001130438.3(SPTAN1):c.2796C>T (p.His932=) rs755933560 0.00002
NM_001130438.3(SPTAN1):c.2985C>T (p.Thr995=) rs777441722 0.00002
NM_001130438.3(SPTAN1):c.3183T>C (p.Ser1061=) rs776441600 0.00002
NM_001130438.3(SPTAN1):c.3641G>A (p.Arg1214His) rs780184944 0.00002
NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His) rs1368132952 0.00002
NM_001130438.3(SPTAN1):c.4027C>T (p.Arg1343Cys) rs138827421 0.00002
NM_001130438.3(SPTAN1):c.4076G>A (p.Arg1359Gln) rs1176851202 0.00002
NM_001130438.3(SPTAN1):c.4279C>T (p.Arg1427Cys) rs774559979 0.00002
NM_001130438.3(SPTAN1):c.4525G>A (p.Asp1509Asn) rs757714696 0.00002
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg) rs757109566 0.00002
NM_001130438.3(SPTAN1):c.5274G>A (p.Ala1758=) rs775305903 0.00002
NM_001130438.3(SPTAN1):c.5322C>T (p.Phe1774=) rs780530803 0.00002
NM_001130438.3(SPTAN1):c.6133A>G (p.Lys2045Glu) rs753515426 0.00002
NM_001130438.3(SPTAN1):c.6183C>T (p.Ala2061=) rs775886527 0.00002
NM_001130438.3(SPTAN1):c.6303C>T (p.Phe2101=) rs1057522086 0.00002
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg) rs796053322 0.00002
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507 0.00002
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys) rs796053323 0.00002
NM_001130438.3(SPTAN1):c.6468C>T (p.Ala2156=) rs551663711 0.00002
NM_001130438.3(SPTAN1):c.6708-1171G>A rs1029370467 0.00002
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=) rs745750589 0.00002
NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys) rs757162652 0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292 0.00002
NM_001130438.3(SPTAN1):c.1329C>T (p.Thr443=) rs193111526 0.00001
NM_001130438.3(SPTAN1):c.1357C>T (p.Leu453=) rs200827350 0.00001
NM_001130438.3(SPTAN1):c.1375C>T (p.Arg459Cys) rs772281075 0.00001
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=) rs587784431 0.00001
NM_001130438.3(SPTAN1):c.1520A>C (p.Lys507Thr) rs375343189 0.00001
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val) rs796053315 0.00001
NM_001130438.3(SPTAN1):c.1696C>T (p.Arg566Trp) rs773019990 0.00001
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886 0.00001
NM_001130438.3(SPTAN1):c.1799C>A (p.Ala600Asp) rs745720603 0.00001
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr) rs1564224960 0.00001
NM_001130438.3(SPTAN1):c.2171A>G (p.Glu724Gly) rs374506067 0.00001
NM_001130438.3(SPTAN1):c.2292T>A (p.Ala764=) rs140939957 0.00001
NM_001130438.3(SPTAN1):c.2421C>T (p.Ala807=) rs1329573763 0.00001
NM_001130438.3(SPTAN1):c.2430C>T (p.Thr810=) rs754228048 0.00001
NM_001130438.3(SPTAN1):c.2557G>A (p.Glu853Lys) rs771925044 0.00001
NM_001130438.3(SPTAN1):c.2588C>G (p.Ala863Gly) rs775545003 0.00001
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005 0.00001
NM_001130438.3(SPTAN1):c.2614T>C (p.Trp872Arg) rs899998696 0.00001
NM_001130438.3(SPTAN1):c.2647C>T (p.Arg883Trp) rs770641858 0.00001
NM_001130438.3(SPTAN1):c.2763C>T (p.Asp921=) rs761166458 0.00001
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met) rs943636575 0.00001
NM_001130438.3(SPTAN1):c.3035G>A (p.Arg1012His) rs1265382491 0.00001
NM_001130438.3(SPTAN1):c.3050C>T (p.Pro1017Leu) rs370748662 0.00001
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602 0.00001
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) rs794727356 0.00001
NM_001130438.3(SPTAN1):c.3156-11C>G rs781434997 0.00001
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His) rs199561983 0.00001
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg) rs748698544 0.00001
NM_001130438.3(SPTAN1):c.3415-9G>T rs199802986 0.00001
NM_001130438.3(SPTAN1):c.3466G>C (p.Asp1156His) rs1854608331 0.00001
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val) rs1060503492 0.00001
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004 0.00001
NM_001130438.3(SPTAN1):c.3604G>A (p.Val1202Met) rs1312920158 0.00001
NM_001130438.3(SPTAN1):c.3613T>C (p.Phe1205Leu) rs1334812460 0.00001
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu) rs942861981 0.00001
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His) rs775634580 0.00001
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641 0.00001
NM_001130438.3(SPTAN1):c.3865-7C>T rs1248978165 0.00001
NM_001130438.3(SPTAN1):c.3965G>A (p.Ser1322Asn) rs756084170 0.00001
NM_001130438.3(SPTAN1):c.3974G>T (p.Gly1325Val) rs886043530 0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001130438.3(SPTAN1):c.4164C>T (p.Ile1388=) rs759713935 0.00001
NM_001130438.3(SPTAN1):c.4276G>C (p.Glu1426Gln) rs1796996192 0.00001
NM_001130438.3(SPTAN1):c.4558G>A (p.Gly1520Arg) rs374801331 0.00001
NM_001130438.3(SPTAN1):c.4576C>T (p.Arg1526Cys) rs796053317 0.00001
NM_001130438.3(SPTAN1):c.4582G>A (p.Glu1528Lys) rs780433514 0.00001
NM_001130438.3(SPTAN1):c.4595+9C>T rs771798239 0.00001
NM_001130438.3(SPTAN1):c.4930C>G (p.Gln1644Glu) rs1312145167 0.00001
NM_001130438.3(SPTAN1):c.4950A>G (p.Gln1650=) rs375199636 0.00001
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198 0.00001
NM_001130438.3(SPTAN1):c.5262C>T (p.Ile1754=) rs1334875679 0.00001
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp) rs764247109 0.00001
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=) rs372782253 0.00001
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg) rs754276364 0.00001
NM_001130438.3(SPTAN1):c.6078T>C (p.Phe2026=) rs776794393 0.00001
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120 0.00001
NM_001130438.3(SPTAN1):c.6208T>G (p.Trp2070Gly) rs766038302 0.00001
NM_001130438.3(SPTAN1):c.6228C>G (p.Asn2076Lys) rs752560514 0.00001
NM_001130438.3(SPTAN1):c.6420C>T (p.Ala2140=) rs1442533335 0.00001
NM_001130438.3(SPTAN1):c.6425G>A (p.Arg2142His) rs796053324 0.00001
NM_001130438.3(SPTAN1):c.6594G>A (p.Leu2198=) rs776820062 0.00001
NM_001130438.3(SPTAN1):c.6599A>G (p.Lys2200Arg) rs1327555124 0.00001
NM_001130438.3(SPTAN1):c.6708-6G>A rs375772117 0.00001
NM_001130438.3(SPTAN1):c.6763-12C>T rs774215534 0.00001
NM_001130438.3(SPTAN1):c.6794G>C (p.Ser2265Thr) rs796053326 0.00001
NM_001130438.3(SPTAN1):c.7209C>T (p.Arg2403=) rs778129817 0.00001
NM_001130438.3(SPTAN1):c.7338C>T (p.Cys2446=) rs374405583 0.00001
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) rs759975874 0.00001
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His) rs772367229 0.00001
NM_001130438.3(SPTAN1):c.891C>T (p.His297=) rs774303070 0.00001
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys) rs794727910 0.00001
NM_001130438.3(SPTAN1):c.*148C>T rs113912557
NM_001130438.3(SPTAN1):c.1006C>T (p.Arg336Ter)
NM_001130438.3(SPTAN1):c.1050G>A (p.Ala350=) rs752710398
NM_001130438.3(SPTAN1):c.1085+3G>A rs1420995845
NM_001130438.3(SPTAN1):c.1086-220dup rs11464671
NM_001130438.3(SPTAN1):c.1097T>C (p.Phe366Ser) rs942915357
NM_001130438.3(SPTAN1):c.1105G>C (p.Asp369His)
NM_001130438.3(SPTAN1):c.1162G>A (p.Glu388Lys) rs2131029996
NM_001130438.3(SPTAN1):c.1170_1175delinsAAGTGT (p.Asp392Val)
NM_001130438.3(SPTAN1):c.1202A>T (p.Asp401Val) rs2131030682
NM_001130438.3(SPTAN1):c.1221+115T>A rs1890103
NM_001130438.3(SPTAN1):c.1221+115T>C rs1890103
NM_001130438.3(SPTAN1):c.1222-226C>G rs76220061
NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=) rs137947812
NM_001130438.3(SPTAN1):c.128C>A (p.Ser43Tyr)
NM_001130438.3(SPTAN1):c.1298A>T (p.Tyr433Phe) rs2131062140
NM_001130438.3(SPTAN1):c.1300G>T (p.Ala434Ser)
NM_001130438.3(SPTAN1):c.1306G>C (p.Asp436His)
NM_001130438.3(SPTAN1):c.1308T>G (p.Asp436Glu) rs1048796195
NM_001130438.3(SPTAN1):c.1334T>C (p.Leu445Pro)
NM_001130438.3(SPTAN1):c.1337C>T (p.Ser446Phe) rs794727023
NM_001130438.3(SPTAN1):c.1338C>G (p.Ser446=) rs185614333
NM_001130438.3(SPTAN1):c.133C>T (p.Arg45Ter) rs1484319243
NM_001130438.3(SPTAN1):c.1341G>A (p.Glu447=) rs2131088001
NM_001130438.3(SPTAN1):c.1352C>A (p.Ala451Glu)
NM_001130438.3(SPTAN1):c.1366_1374dup (p.Leu458_Arg459insTrpGluLeu)
NM_001130438.3(SPTAN1):c.1383_1384delinsTT (p.Gln461_Gln462delinsHisTer) rs2131088955
NM_001130438.3(SPTAN1):c.1420C>T (p.Arg474Trp) rs1461072315
NM_001130438.3(SPTAN1):c.1445G>T (p.Trp482Leu) rs2131090131
NM_001130438.3(SPTAN1):c.1462-293_1462-291del rs1171484214
NM_001130438.3(SPTAN1):c.1462-293_1462-292del rs1491457137
NM_001130438.3(SPTAN1):c.1462-294del rs11429372
NM_001130438.3(SPTAN1):c.1462-294dup rs11429372
NM_001130438.3(SPTAN1):c.1463C>T (p.Ala488Val) rs1851980146
NM_001130438.3(SPTAN1):c.148C>A (p.Gln50Lys)
NM_001130438.3(SPTAN1):c.1514T>A (p.Leu505His)
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys) rs769320860
NM_001130438.3(SPTAN1):c.1572+208A>T rs12002906
NM_001130438.3(SPTAN1):c.1573-145del rs5900808
NM_001130438.3(SPTAN1):c.1573-6_1573-3del rs758557229
NM_001130438.3(SPTAN1):c.1584A>G (p.Glu528=) rs767443717
NM_001130438.3(SPTAN1):c.1642C>T (p.Arg548Ter)
NM_001130438.3(SPTAN1):c.1653G>A (p.Leu551=) rs2131127973
NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr) rs377387388
NM_001130438.3(SPTAN1):c.1739G>A (p.Arg580His)
NM_001130438.3(SPTAN1):c.1755C>G (p.Leu585=) rs1564223914
NM_001130438.3(SPTAN1):c.1879C>T (p.Arg627Ter)
NM_001130438.3(SPTAN1):c.1886A>G (p.Asp629Gly) rs1589214618
NM_001130438.3(SPTAN1):c.1903G>A (p.Gly635Ser)
NM_001130438.3(SPTAN1):c.1949C>T (p.Ala650Val) rs1057524587
NM_001130438.3(SPTAN1):c.1959G>C (p.Met653Ile) rs1852167768
NM_001130438.3(SPTAN1):c.2011+30G>A rs76351026
NM_001130438.3(SPTAN1):c.2040A>G (p.Gln680=) rs1589216696
NM_001130438.3(SPTAN1):c.2066A>G (p.Asp689Gly)
NM_001130438.3(SPTAN1):c.2091A>G (p.Val697=) rs1589216896
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp) rs1554746116
NM_001130438.3(SPTAN1):c.2158C>A (p.His720Asn) rs191761167
NM_001130438.3(SPTAN1):c.2193+3A>G
NM_001130438.3(SPTAN1):c.2194G>A (p.Asp732Asn) rs2131160403
NM_001130438.3(SPTAN1):c.2207G>C (p.Gly736Ala)
NM_001130438.3(SPTAN1):c.2209A>G (p.Ile737Val) rs1129922
NM_001130438.3(SPTAN1):c.226A>G (p.Thr76Ala) rs753016149
NM_001130438.3(SPTAN1):c.2282C>T (p.Ala761Val) rs770359554
NM_001130438.3(SPTAN1):c.2291C>G (p.Ala764Gly)
NM_001130438.3(SPTAN1):c.2298T>A (p.Tyr766Ter) rs2131162364
NM_001130438.3(SPTAN1):c.2308_2310del (p.Lys770del) rs1554746442
NM_001130438.3(SPTAN1):c.2316C>G (p.Pro772=) rs2131162953
NM_001130438.3(SPTAN1):c.2328G>A (p.Arg776=)
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.2353C>T (p.Arg785Trp) rs1253697977
NM_001130438.3(SPTAN1):c.237+300TTTTG[3] rs537687332
NM_001130438.3(SPTAN1):c.2378T>C (p.Val793Ala)
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln) rs774283264
NM_001130438.3(SPTAN1):c.2428A>C (p.Thr810Pro) rs1447170470
NM_001130438.3(SPTAN1):c.2463T>C (p.Asn821=) rs2131169854
NM_001130438.3(SPTAN1):c.2491G>A (p.Ala831Thr)
NM_001130438.3(SPTAN1):c.2538G>A (p.Lys846=) rs754477004
NM_001130438.3(SPTAN1):c.2560+189del rs11382658
NM_001130438.3(SPTAN1):c.2560+189dup rs11382658
NM_001130438.3(SPTAN1):c.2620G>A (p.Ala874Thr)
NM_001130438.3(SPTAN1):c.2648G>A (p.Arg883Gln)
NM_001130438.3(SPTAN1):c.2660A>C (p.Glu887Ala)
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys) rs886043660
NM_001130438.3(SPTAN1):c.2666_2668del (p.Ser889del) rs796053332
NM_001130438.3(SPTAN1):c.2673G>A (p.Gln891=)
NM_001130438.3(SPTAN1):c.2701G>A (p.Glu901Lys) rs1305659962
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala) rs1064797353
NM_001130438.3(SPTAN1):c.2752T>C (p.Tyr918His) rs1589224403
NM_001130438.3(SPTAN1):c.2778+71_2778+73del rs150632298
NM_001130438.3(SPTAN1):c.2779-2A>G
NM_001130438.3(SPTAN1):c.2871+141ATTT[7] rs573630377
NM_001130438.3(SPTAN1):c.2894A>G (p.Asp965Gly)
NM_001130438.3(SPTAN1):c.2929G>C (p.Asp977His) rs1853044906
NM_001130438.3(SPTAN1):c.296T>C (p.Ile99Thr)
NM_001130438.3(SPTAN1):c.2988dup (p.Leu997fs) rs2131267665
NM_001130438.3(SPTAN1):c.2994C>T (p.Asn998=) rs1470152077
NM_001130438.3(SPTAN1):c.3006+317C>T rs117975373
NM_001130438.3(SPTAN1):c.3007-189C>G rs10819420
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.3079G>A (p.Ala1027Thr) rs779759134
NM_001130438.3(SPTAN1):c.3139G>A (p.Glu1047Lys) rs1853536448
NM_001130438.3(SPTAN1):c.3155+305C>T rs112366038
NM_001130438.3(SPTAN1):c.3155+3A>G
NM_001130438.3(SPTAN1):c.315_316insA (p.Gly106fs)
NM_001130438.3(SPTAN1):c.3171G>T (p.Lys1057Asn)
NM_001130438.3(SPTAN1):c.3247C>T (p.Arg1083Cys) rs750290385
NM_001130438.3(SPTAN1):c.3391AAG[1] (p.Lys1132del)
NM_001130438.3(SPTAN1):c.3414+4T>C rs794727389
NM_001130438.3(SPTAN1):c.3415-155C>T rs118026701
NM_001130438.3(SPTAN1):c.3416A>T (p.Asp1139Val) rs2131437230
NM_001130438.3(SPTAN1):c.3474G>C (p.Glu1158Asp) rs2131437997
NM_001130438.3(SPTAN1):c.3490G>A (p.Ala1164Thr) rs796053316
NM_001130438.3(SPTAN1):c.3528T>C (p.Tyr1176=) rs1589272670
NM_001130438.3(SPTAN1):c.3569C>A (p.Ser1190Tyr) rs1046110538
NM_001130438.3(SPTAN1):c.3579+1223G>A
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.3586C>G (p.Arg1196Gly) rs1156936601
NM_001130438.3(SPTAN1):c.3587G>A (p.Arg1196His)
NM_001130438.3(SPTAN1):c.360A>G (p.Ile120Met)
NM_001130438.3(SPTAN1):c.361C>T (p.Arg121Trp) rs1376670407
NM_001130438.3(SPTAN1):c.3666C>T (p.Ala1222=) rs372831978
NM_001130438.3(SPTAN1):c.367C>G (p.Arg123Gly)
NM_001130438.3(SPTAN1):c.3720-99TAAA[8] rs544418154
NM_001130438.3(SPTAN1):c.3796G>A (p.Ala1266Thr) rs1185147138
NM_001130438.3(SPTAN1):c.3834C>T (p.Phe1278=) rs1589296272
NM_001130438.3(SPTAN1):c.3865-6C>T
NM_001130438.3(SPTAN1):c.3868A>C (p.Asn1290His) rs1855684326
NM_001130438.3(SPTAN1):c.3910C>T (p.Pro1304Ser)
NM_001130438.3(SPTAN1):c.396A>G (p.Glu132=) rs1589176632
NM_001130438.3(SPTAN1):c.3985G>A (p.Asp1329Asn)
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser) rs1407200590
NM_001130438.3(SPTAN1):c.4033C>G (p.Leu1345Val) rs1589297894
NM_001130438.3(SPTAN1):c.4046+241A>G rs7028880
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752
NM_001130438.3(SPTAN1):c.4128A>T (p.Ala1376=) rs2131613638
NM_001130438.3(SPTAN1):c.4139G>A (p.Arg1380Gln)
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp) rs770189298
NM_001130438.3(SPTAN1):c.4165G>A (p.Asp1389Asn)
NM_001130438.3(SPTAN1):c.418G>T (p.Glu140Ter) rs2130965618
NM_001130438.3(SPTAN1):c.4220C>G (p.Ala1407Gly) rs1589309661
NM_001130438.3(SPTAN1):c.4231T>C (p.Tyr1411His) rs2131617024
NM_001130438.3(SPTAN1):c.4250A>G (p.Lys1417Arg)
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys) rs1156309213
NM_001130438.3(SPTAN1):c.4357G>C (p.Asp1453His)
NM_001130438.3(SPTAN1):c.4435A>G (p.Ser1479Gly)
NM_001130438.3(SPTAN1):c.4457A>C (p.Lys1486Thr)
NM_001130438.3(SPTAN1):c.4458del (p.Lys1486fs) rs1564280617
NM_001130438.3(SPTAN1):c.4478C>T (p.Ala1493Val) rs2131621179
NM_001130438.3(SPTAN1):c.4492-20A>G rs944908728
NM_001130438.3(SPTAN1):c.4551T>C (p.Tyr1517=) rs570247500
NM_001130438.3(SPTAN1):c.4587C>A (p.Val1529=)
NM_001130438.3(SPTAN1):c.4648T>C (p.Ser1550Pro)
NM_001130438.3(SPTAN1):c.465A>G (p.Leu155=) rs2130966272
NM_001130438.3(SPTAN1):c.4716A>G (p.Gln1572=) rs755612920
NM_001130438.3(SPTAN1):c.4733C>A (p.Ser1578Ter) rs756887707
NM_001130438.3(SPTAN1):c.4759-7T>C
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3(SPTAN1):c.4829G>A (p.Arg1610Gln) rs1564286745
NM_001130438.3(SPTAN1):c.4938G>C (p.Gln1646His)
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu) rs374723711
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro) rs1589327320
NM_001130438.3(SPTAN1):c.513T>C (p.Ile171=) rs777942959
NM_001130438.3(SPTAN1):c.518C>G (p.Thr173Ser) rs2130975716
NM_001130438.3(SPTAN1):c.5206G>A (p.Asp1736Asn) rs148294757
NM_001130438.3(SPTAN1):c.5248C>T (p.Arg1750Cys)
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg) rs1857087403
NM_001130438.3(SPTAN1):c.528G>T (p.Glu176Asp) rs1589179214
NM_001130438.3(SPTAN1):c.5388C>G (p.Asp1796Glu)
NM_001130438.3(SPTAN1):c.5396G>A (p.Arg1799Gln)
NM_001130438.3(SPTAN1):c.5400C>G (p.Asp1800Glu) rs779973472
NM_001130438.3(SPTAN1):c.5452C>G (p.Leu1818Val) rs2131791669
NM_001130438.3(SPTAN1):c.5459C>T (p.Ala1820Val)
NM_001130438.3(SPTAN1):c.5461C>T (p.His1821Tyr) rs1589352062
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr) rs796053320
NM_001130438.3(SPTAN1):c.5493T>A (p.Thr1831=)
NM_001130438.3(SPTAN1):c.5509G>A (p.Asp1837Asn)
NM_001130438.3(SPTAN1):c.5529A>G (p.Lys1843=) rs776079416
NM_001130438.3(SPTAN1):c.5572A>G (p.Lys1858Glu)
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001130438.3(SPTAN1):c.5725G>A (p.Ala1909Thr)
NM_001130438.3(SPTAN1):c.5806A>G (p.Thr1936Ala) rs1857810076
NM_001130438.3(SPTAN1):c.5809A>G (p.Asn1937Asp) rs1554764758
NM_001130438.3(SPTAN1):c.5826T>A (p.Ile1942=)
NM_001130438.3(SPTAN1):c.5833-216del rs11444346
NM_001130438.3(SPTAN1):c.5833-216dup rs11444346
NM_001130438.3(SPTAN1):c.5833-226_5833-216del rs11444346
NM_001130438.3(SPTAN1):c.5833-227_5833-216del rs11444346
NM_001130438.3(SPTAN1):c.583C>T (p.Gln195Ter) rs2130976217
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg) rs1858423393
NM_001130438.3(SPTAN1):c.5950C>A (p.Leu1984Ile) rs1440498629
NM_001130438.3(SPTAN1):c.5984C>T (p.Ser1995Phe)
NM_001130438.3(SPTAN1):c.5992+224C>T rs376940683
NM_001130438.3(SPTAN1):c.5992+42T>C
NM_001130438.3(SPTAN1):c.6027T>G (p.Tyr2009Ter) rs1554766334
NM_001130438.3(SPTAN1):c.6031C>T (p.Arg2011Ter) rs2131938862
NM_001130438.3(SPTAN1):c.6070-12C>T rs771489152
NM_001130438.3(SPTAN1):c.6082G>A (p.Ala2028Thr)
NM_001130438.3(SPTAN1):c.6135dup (p.Asp2046fs)
NM_001130438.3(SPTAN1):c.6139C>G (p.Gln2047Glu)
NM_001130438.3(SPTAN1):c.6171G>A (p.Lys2057=)
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del) rs1858669268
NM_001130438.3(SPTAN1):c.6266G>C (p.Ser2089Thr)
NM_001130438.3(SPTAN1):c.6270C>A (p.His2090Gln) rs370102482
NM_001130438.3(SPTAN1):c.6275G>A (p.Arg2092His) rs1301624113
NM_001130438.3(SPTAN1):c.6319G>A (p.Ala2107Thr) rs1131691448
NM_001130438.3(SPTAN1):c.6356_6357insC (p.Leu2119fs) rs2131965616
NM_001130438.3(SPTAN1):c.6418G>A (p.Ala2140Thr)
NM_001130438.3(SPTAN1):c.6479G>A (p.Arg2160His)
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6500T>C (p.Val2167Ala) rs2131968096
NM_001130438.3(SPTAN1):c.651+37A>C rs2297769
NM_001130438.3(SPTAN1):c.6546G>A (p.Glu2182=) rs1239717990
NM_001130438.3(SPTAN1):c.6574A>G (p.Lys2192Glu) rs2131969031
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del) rs398122865
NM_001130438.3(SPTAN1):c.6606G>C (p.Gln2202His) rs1357160380
NM_001130438.3(SPTAN1):c.6610C>T (p.Arg2204Trp) rs1057524104
NM_001130438.3(SPTAN1):c.6611G>A (p.Arg2204Gln) rs1858936991
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6652C>T (p.His2218Tyr) rs886043546
NM_001130438.3(SPTAN1):c.6706G>A (p.Gly2236Arg)
NM_001130438.3(SPTAN1):c.6707+10_6707+12delinsTTC rs1589395833
NM_001130438.3(SPTAN1):c.6708-1186C>T
NM_001130438.3(SPTAN1):c.6739G>A (p.Glu2247Lys) rs1859500394
NM_001130438.3(SPTAN1):c.6749T>C (p.Leu2250Pro)
NM_001130438.3(SPTAN1):c.6762+152TC[4] rs34039280
NM_001130438.3(SPTAN1):c.6762+273C>G rs28562867
NM_001130438.3(SPTAN1):c.6762+288T>G rs7852794
NM_001130438.3(SPTAN1):c.6763-6C>A rs543227930
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter) rs1859856446
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6852CAA[1] (p.Asn2285del) rs2132088873
NM_001130438.3(SPTAN1):c.6869A>G (p.His2290Arg) rs2132089221
NM_001130438.3(SPTAN1):c.6886G>A (p.Ala2296Thr) rs2132089475
NM_001130438.3(SPTAN1):c.6887C>T (p.Ala2296Val) rs2132089514
NM_001130438.3(SPTAN1):c.6895T>C (p.Trp2299Arg) rs2132089667
NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val) rs796053327
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6910_6918dup (p.Gln2304_Gly2306dup) rs796053334
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130438.3(SPTAN1):c.6918C>A (p.Gly2306=)
NM_001130438.3(SPTAN1):c.6960-3C>T
NM_001130438.3(SPTAN1):c.6986C>T (p.Ala2329Val)
NM_001130438.3(SPTAN1):c.698_723del (p.Val233fs) rs1554741638
NM_001130438.3(SPTAN1):c.7005G>C (p.Met2335Ile)
NM_001130438.3(SPTAN1):c.7013+7T>C rs776507647
NM_001130438.3(SPTAN1):c.7031A>G (p.Lys2344Arg)
NM_001130438.3(SPTAN1):c.7061A>C (p.Lys2354Thr) rs768911375
NM_001130438.3(SPTAN1):c.7075T>C (p.Ser2359Pro) rs2132100320
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln) rs796053329
NM_001130438.3(SPTAN1):c.7121C>G (p.Pro2374Arg) rs796053330
NM_001130438.3(SPTAN1):c.7129G>C (p.Glu2377Gln) rs757162652
NM_001130438.3(SPTAN1):c.7137C>T (p.Ile2379=) rs1859968782
NM_001130438.3(SPTAN1):c.7160+10_7160+13del rs554161838
NM_001130438.3(SPTAN1):c.7161-7C>T rs908872634
NM_001130438.3(SPTAN1):c.7208G>A (p.Arg2403His) rs1280116999
NM_001130438.3(SPTAN1):c.725G>C (p.Gly242Ala)
NM_001130438.3(SPTAN1):c.7309-12_7309-11del rs770948927
NM_001130438.3(SPTAN1):c.7355C>T (p.Pro2452Leu)
NM_001130438.3(SPTAN1):c.7395C>A (p.Phe2465Leu) rs752878085
NM_001130438.3(SPTAN1):c.7425C>T (p.Phe2475=)
NM_001130438.3(SPTAN1):c.761C>A (p.Ala254Glu) rs794727784
NM_001130438.3(SPTAN1):c.807T>C (p.Ser269=)
NM_001130438.3(SPTAN1):c.82C>T (p.Arg28Cys) rs1850092105
NM_001130438.3(SPTAN1):c.852C>T (p.Gly284=) rs1454898745
NM_001130438.3(SPTAN1):c.862G>A (p.Ala288Thr)
NM_001130438.3(SPTAN1):c.872del (p.Gln291fs) rs1564211389
NM_001130438.3(SPTAN1):c.915T>A (p.Ala305=) rs1589188817
NM_001130438.3(SPTAN1):c.937G>C (p.Ala313Pro) rs778408492
NM_001130438.3(SPTAN1):c.939C>T (p.Ala313=) rs2131014238
NM_001130438.3(SPTAN1):c.96C>T (p.Leu32=) rs1589149611

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