ClinVar Miner

List of variants in gene SPTAN1 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1072
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.2163= (p.Ala721=) rs10760566 0.03060
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005 0.00066
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598 0.00046
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val) rs144649618 0.00043
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.480C>T (p.Asp160=) rs201249013 0.00031
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.1651-17G>A rs372860106 0.00027
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.2025T>C (p.Arg675=) rs145870898 0.00024
NM_001130438.3(SPTAN1):c.2778+18G>A rs372896131 0.00024
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725 0.00023
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=) rs148554113 0.00021
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.7365C>T (p.Asp2455=) rs142777123 0.00020
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676 0.00019
NM_001130438.3(SPTAN1):c.4260T>G (p.Leu1420=) rs146150071 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.2011+10G>A rs377437879 0.00018
NM_001130438.3(SPTAN1):c.108G>A (p.Arg36=) rs371017342 0.00017
NM_001130438.3(SPTAN1):c.4905+19C>T rs140922514 0.00017
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=) rs140418358 0.00016
NM_001130438.3(SPTAN1):c.4850T>C (p.Met1617Thr) rs753106083 0.00015
NM_001130438.3(SPTAN1):c.1011G>A (p.Glu337=) rs376280897 0.00014
NM_001130438.3(SPTAN1):c.1086-4C>G rs367718622 0.00014
NM_001130438.3(SPTAN1):c.3519+13_3519+14del rs764260912 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.4543G>A (p.Gly1515Ser) rs149899658 0.00012
NM_001130438.3(SPTAN1):c.4773+13T>A rs539111821 0.00012
NM_001130438.3(SPTAN1):c.4774-18T>A rs534497861 0.00012
NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=) rs138634476 0.00012
NM_001130438.3(SPTAN1):c.1324-12T>C rs371641680 0.00011
NM_001130438.3(SPTAN1):c.1527C>T (p.His509=) rs201555611 0.00011
NM_001130438.3(SPTAN1):c.1806+15G>T rs372203791 0.00011
NM_001130438.3(SPTAN1):c.2871+9G>A rs774094821 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.3441G>A (p.Leu1147=) rs113157213 0.00010
NM_001130438.3(SPTAN1):c.5820C>T (p.Asp1940=) rs147815147 0.00010
NM_001130438.3(SPTAN1):c.7013+18C>T rs368329742 0.00010
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.4224C>T (p.His1408=) rs200180598 0.00009
NM_001130438.3(SPTAN1):c.5833-10C>T rs1389531374 0.00009
NM_001130438.3(SPTAN1):c.6405C>T (p.Arg2135=) rs767640999 0.00009
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=) rs372825476 0.00009
NM_001130438.3(SPTAN1):c.7360G>A (p.Val2454Met) rs766616293 0.00009
NM_001130438.3(SPTAN1):c.237+10A>G rs746224717 0.00008
NM_001130438.3(SPTAN1):c.2760G>A (p.Lys920=) rs773435271 0.00008
NM_001130438.3(SPTAN1):c.3803T>C (p.Val1268Ala) rs146153626 0.00008
NM_001130438.3(SPTAN1):c.5949C>T (p.Phe1983=) rs762358113 0.00008
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649 0.00008
NM_001130438.3(SPTAN1):c.6885C>T (p.Leu2295=) rs76767787 0.00007
NM_001130438.3(SPTAN1):c.7330G>A (p.Asp2444Asn) rs147149360 0.00007
NM_001130438.3(SPTAN1):c.7391C>T (p.Ala2464Val) rs139070536 0.00007
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697 0.00007
NM_001130438.3(SPTAN1):c.1512G>A (p.Ala504=) rs141424626 0.00006
NM_001130438.3(SPTAN1):c.2205T>C (p.Asp735=) rs781437907 0.00006
NM_001130438.3(SPTAN1):c.238-9C>T rs367687143 0.00006
NM_001130438.3(SPTAN1):c.3007-16C>A rs377381640 0.00006
NM_001130438.3(SPTAN1):c.4437C>T (p.Ser1479=) rs373857333 0.00006
NM_001130438.3(SPTAN1):c.4485C>T (p.Asn1495=) rs767175912 0.00006
NM_001130438.3(SPTAN1):c.4492-8T>C rs778949349 0.00006
NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser) rs200248814 0.00006
NM_001130438.3(SPTAN1):c.5817A>G (p.Gln1939=) rs578124150 0.00006
NM_001130438.3(SPTAN1):c.6195C>T (p.Ser2065=) rs760243298 0.00006
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001130438.3(SPTAN1):c.2561-18T>C rs369772583 0.00005
NM_001130438.3(SPTAN1):c.2871+8T>C rs1485998372 0.00005
NM_001130438.3(SPTAN1):c.3156-13C>T rs371673291 0.00005
NM_001130438.3(SPTAN1):c.3520-19T>G rs373387372 0.00005
NM_001130438.3(SPTAN1):c.3639G>A (p.Glu1213=) rs750007543 0.00005
NM_001130438.3(SPTAN1):c.3719+17G>A rs539026080 0.00005
NM_001130438.3(SPTAN1):c.3915G>A (p.Glu1305=) rs761628910 0.00005
NM_001130438.3(SPTAN1):c.391T>C (p.Trp131Arg) rs142120579 0.00005
NM_001130438.3(SPTAN1):c.4075C>T (p.Arg1359Trp) rs150944593 0.00005
NM_001130438.3(SPTAN1):c.4188G>A (p.Gln1396=) rs763156575 0.00005
NM_001130438.3(SPTAN1):c.4540G>A (p.Ala1514Thr) rs145551982 0.00005
NM_001130438.3(SPTAN1):c.4959G>A (p.Ala1653=) rs775224497 0.00005
NM_001130438.3(SPTAN1):c.5331C>T (p.Asp1777=) rs758017157 0.00005
NM_001130438.3(SPTAN1):c.5478+13C>T rs369615023 0.00005
NM_001130438.3(SPTAN1):c.6247A>C (p.Lys2083Gln) rs757178508 0.00005
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=) rs201348505 0.00005
NM_001130438.3(SPTAN1):c.1338C>T (p.Ser446=) rs185614333 0.00004
NM_001130438.3(SPTAN1):c.1536T>C (p.Phe512=) rs762887917 0.00004
NM_001130438.3(SPTAN1):c.1581T>A (p.Asp527Glu) rs971082831 0.00004
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) rs968327265 0.00004
NM_001130438.3(SPTAN1):c.2277G>A (p.Gln759=) rs746674327 0.00004
NM_001130438.3(SPTAN1):c.2688T>C (p.Phe896=) rs780858157 0.00004
NM_001130438.3(SPTAN1):c.2925C>T (p.Leu975=) rs757453262 0.00004
NM_001130438.3(SPTAN1):c.3030C>T (p.Asn1010=) rs202129574 0.00004
NM_001130438.3(SPTAN1):c.3134G>A (p.Arg1045Gln) rs368406599 0.00004
NM_001130438.3(SPTAN1):c.3177C>T (p.Ala1059=) rs369531936 0.00004
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=) rs372807389 0.00004
NM_001130438.3(SPTAN1):c.3215+15A>G rs367678277 0.00004
NM_001130438.3(SPTAN1):c.3215+20T>G rs781343185 0.00004
NM_001130438.3(SPTAN1):c.3510G>A (p.Val1170=) rs935038001 0.00004
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507 0.00004
NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp) rs771862017 0.00004
NM_001130438.3(SPTAN1):c.4533C>T (p.Leu1511=) rs375026050 0.00004
NM_001130438.3(SPTAN1):c.4662A>G (p.Gln1554=) rs767679923 0.00004
NM_001130438.3(SPTAN1):c.4800T>C (p.Phe1600=) rs370609436 0.00004
NM_001130438.3(SPTAN1):c.505-4A>T rs377129746 0.00004
NM_001130438.3(SPTAN1):c.529C>T (p.Leu177=) rs145554993 0.00004
NM_001130438.3(SPTAN1):c.5409C>T (p.Gly1803=) rs768322079 0.00004
NM_001130438.3(SPTAN1):c.5856C>T (p.Ile1952=) rs141474640 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.6150C>T (p.Ala2050=) rs141602301 0.00004
NM_001130438.3(SPTAN1):c.6576+11C>T rs374482693 0.00004
NM_001130438.3(SPTAN1):c.6711C>G (p.Ser2237=) rs151012062 0.00004
NM_001130438.3(SPTAN1):c.6762+11G>A rs775553506 0.00004
NM_001130438.3(SPTAN1):c.6763-8C>T rs761978444 0.00004
NM_001130438.3(SPTAN1):c.6825C>T (p.Ala2275=) rs755559513 0.00004
NM_001130438.3(SPTAN1):c.6858G>A (p.Lys2286=) rs750291744 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.7248C>T (p.Ser2416=) rs148984013 0.00004
NM_001130438.3(SPTAN1):c.7308+7G>A rs373772795 0.00004
NM_001130438.3(SPTAN1):c.7401C>T (p.Tyr2467=) rs766927132 0.00004
NM_001130438.3(SPTAN1):c.1215G>A (p.Glu405=) rs750970364 0.00003
NM_001130438.3(SPTAN1):c.1418A>G (p.Tyr473Cys) rs200948972 0.00003
NM_001130438.3(SPTAN1):c.1462-10C>T rs1469011739 0.00003
NM_001130438.3(SPTAN1):c.1962T>C (p.Asn654=) rs748193081 0.00003
NM_001130438.3(SPTAN1):c.2117A>G (p.Tyr706Cys) rs1473149290 0.00003
NM_001130438.3(SPTAN1):c.2201T>C (p.Ile734Thr) rs1214164128 0.00003
NM_001130438.3(SPTAN1):c.2548A>C (p.Met850Leu) rs371776794 0.00003
NM_001130438.3(SPTAN1):c.2778+8G>C rs375037363 0.00003
NM_001130438.3(SPTAN1):c.3156-10C>T rs745910160 0.00003
NM_001130438.3(SPTAN1):c.3216-19C>A rs368814792 0.00003
NM_001130438.3(SPTAN1):c.363+18G>A rs376019489 0.00003
NM_001130438.3(SPTAN1):c.4479G>A (p.Ala1493=) rs201716851 0.00003
NM_001130438.3(SPTAN1):c.4905+7C>T rs752304112 0.00003
NM_001130438.3(SPTAN1):c.4906-15C>T rs756241253 0.00003
NM_001130438.3(SPTAN1):c.5064C>T (p.Ser1688=) rs1046339532 0.00003
NM_001130438.3(SPTAN1):c.5205C>T (p.Phe1735=) rs757734927 0.00003
NM_001130438.3(SPTAN1):c.5469G>A (p.Pro1823=) rs142234188 0.00003
NM_001130438.3(SPTAN1):c.5553G>A (p.Ala1851=) rs759088264 0.00003
NM_001130438.3(SPTAN1):c.5700C>T (p.Ser1900=) rs779393161 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.651+13G>A rs200409897 0.00003
NM_001130438.3(SPTAN1):c.6689+10C>T rs769263723 0.00003
NM_001130438.3(SPTAN1):c.6689+20G>A rs768065593 0.00003
NM_001130438.3(SPTAN1):c.6707+10G>C rs374760508 0.00003
NM_001130438.3(SPTAN1):c.6762+10C>T rs367706466 0.00003
NM_001130438.3(SPTAN1):c.6810C>T (p.Ile2270=) rs558449802 0.00003
NM_001130438.3(SPTAN1):c.6864G>A (p.Thr2288=) rs577730526 0.00003
NM_001130438.3(SPTAN1):c.6959+15T>C rs776795375 0.00003
NM_001130438.3(SPTAN1):c.6959+7G>A rs373990901 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.7302C>T (p.Leu2434=) rs758405090 0.00003
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085 0.00003
NM_001130438.3(SPTAN1):c.1350G>A (p.Ala450=) rs374478564 0.00002
NM_001130438.3(SPTAN1):c.1461+14A>C rs376751145 0.00002
NM_001130438.3(SPTAN1):c.1548T>C (p.Leu516=) rs909370953 0.00002
NM_001130438.3(SPTAN1):c.1683A>G (p.Arg561=) rs772119238 0.00002
NM_001130438.3(SPTAN1):c.1707A>G (p.Leu569=) rs757578154 0.00002
NM_001130438.3(SPTAN1):c.1758G>A (p.Lys586=) rs758019827 0.00002
NM_001130438.3(SPTAN1):c.2194-19T>C rs371322683 0.00002
NM_001130438.3(SPTAN1):c.237+5G>A rs747501430 0.00002
NM_001130438.3(SPTAN1):c.2438-19G>T rs760955571 0.00002
NM_001130438.3(SPTAN1):c.2560+8del rs768243872 0.00002
NM_001130438.3(SPTAN1):c.2589C>G (p.Ala863=) rs528752928 0.00002
NM_001130438.3(SPTAN1):c.2778+17A>G rs757140291 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.3155+12A>G rs184577750 0.00002
NM_001130438.3(SPTAN1):c.3183T>C (p.Ser1061=) rs776441600 0.00002
NM_001130438.3(SPTAN1):c.3216-15C>G rs762562811 0.00002
NM_001130438.3(SPTAN1):c.3219T>C (p.Tyr1073=) rs761538979 0.00002
NM_001130438.3(SPTAN1):c.3579+10C>T rs1417674497 0.00002
NM_001130438.3(SPTAN1):c.357C>T (p.Thr119=) rs759573145 0.00002
NM_001130438.3(SPTAN1):c.3719+9_3719+10insTC rs896571703 0.00002
NM_001130438.3(SPTAN1):c.3985G>C (p.Asp1329His) rs1368132952 0.00002
NM_001130438.3(SPTAN1):c.4017C>T (p.His1339=) rs745529207 0.00002
NM_001130438.3(SPTAN1):c.4524C>T (p.Ala1508=) rs371100708 0.00002
NM_001130438.3(SPTAN1):c.4725T>C (p.Ser1575=) rs753055605 0.00002
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729 0.00002
NM_001130438.3(SPTAN1):c.4809G>A (p.Glu1603=) rs745887395 0.00002
NM_001130438.3(SPTAN1):c.5044-16G>C rs747282086 0.00002
NM_001130438.3(SPTAN1):c.5139T>C (p.Ser1713=) rs755166792 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.5358-18T>A rs754212051 0.00002
NM_001130438.3(SPTAN1):c.5601-6_5601-5del rs781645028 0.00002
NM_001130438.3(SPTAN1):c.5689C>T (p.Leu1897=) rs755434212 0.00002
NM_001130438.3(SPTAN1):c.5724C>T (p.Ala1908=) rs886063507 0.00002
NM_001130438.3(SPTAN1):c.57G>A (p.Arg19=) rs1015182699 0.00002
NM_001130438.3(SPTAN1):c.5913C>T (p.Ala1971=) rs373426828 0.00002
NM_001130438.3(SPTAN1):c.5943G>A (p.Ser1981=) rs556796231 0.00002
NM_001130438.3(SPTAN1):c.5993-9G>A rs761329975 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.6300C>G (p.Thr2100=) rs370624702 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.6404G>A (p.Arg2135His) rs373259652 0.00002
NM_001130438.3(SPTAN1):c.6411C>G (p.Ala2137=) rs966742359 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.6534G>A (p.Glu2178=) rs370113838 0.00002
NM_001130438.3(SPTAN1):c.6577-12T>C rs1004458044 0.00002
NM_001130438.3(SPTAN1):c.6689+19C>T rs1166975063 0.00002
NM_001130438.3(SPTAN1):c.6702C>T (p.Leu2234=) rs750819513 0.00002
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=) rs745750589 0.00002
NM_001130438.3(SPTAN1):c.678C>T (p.Ile226=) rs1716799949 0.00002
NM_001130438.3(SPTAN1):c.7074C>T (p.Arg2358=) rs771456936 0.00002
NM_001130438.3(SPTAN1):c.7090C>T (p.Leu2364=) rs374893683 0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292 0.00002
NM_001130438.3(SPTAN1):c.7418C>T (p.Ser2473Leu) rs371177004 0.00002
NM_001130438.3(SPTAN1):c.789T>C (p.Asp263=) rs772435490 0.00002
NM_001130438.3(SPTAN1):c.930+18del rs1564211538 0.00002
NM_001130438.3(SPTAN1):c.1068G>C (p.Arg356=) rs752146614 0.00001
NM_001130438.3(SPTAN1):c.1086-7T>C rs1382809916 0.00001
NM_001130438.3(SPTAN1):c.1092A>G (p.Gln364=) rs570171059 0.00001
NM_001130438.3(SPTAN1):c.111T>A (p.Arg37=) rs774051017 0.00001
NM_001130438.3(SPTAN1):c.1155T>C (p.Asn385=) rs1325465304 0.00001
NM_001130438.3(SPTAN1):c.1200A>G (p.Leu400=) rs931502378 0.00001
NM_001130438.3(SPTAN1):c.1222-12T>C rs1158347123 0.00001
NM_001130438.3(SPTAN1):c.1233T>C (p.Asp411=) rs1398538214 0.00001
NM_001130438.3(SPTAN1):c.1248C>T (p.Ser416=) rs1851708614 0.00001
NM_001130438.3(SPTAN1):c.129C>T (p.Ser43=) rs1442175070 0.00001
NM_001130438.3(SPTAN1):c.1324-11A>G rs771460214 0.00001
NM_001130438.3(SPTAN1):c.1329C>T (p.Thr443=) rs193111526 0.00001
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=) rs587784431 0.00001
NM_001130438.3(SPTAN1):c.1416C>T (p.Phe472=) rs767265808 0.00001
NM_001130438.3(SPTAN1):c.1458G>A (p.Gln486=) rs753753168 0.00001
NM_001130438.3(SPTAN1):c.1495T>C (p.Leu499=) rs748615499 0.00001
NM_001130438.3(SPTAN1):c.1542A>G (p.Lys514=) rs763879792 0.00001
NM_001130438.3(SPTAN1):c.1573-13T>C rs1052807020 0.00001
NM_001130438.3(SPTAN1):c.1575A>G (p.Ala525=) rs1589211921 0.00001
NM_001130438.3(SPTAN1):c.1593C>G (p.Thr531=) rs1057520489 0.00001
NM_001130438.3(SPTAN1):c.1608C>T (p.Asn536=) rs1232400211 0.00001
NM_001130438.3(SPTAN1):c.1650+9G>A rs745454196 0.00001
NM_001130438.3(SPTAN1):c.1677C>T (p.His559=) rs587784432 0.00001
NM_001130438.3(SPTAN1):c.1701C>T (p.Ala567=) rs1391943816 0.00001
NM_001130438.3(SPTAN1):c.1806+6G>C rs760820851 0.00001
NM_001130438.3(SPTAN1):c.1807-15T>G rs1416846037 0.00001
NM_001130438.3(SPTAN1):c.1821A>G (p.Leu607=) rs774410639 0.00001
NM_001130438.3(SPTAN1):c.1953T>C (p.Ala651=) rs376957536 0.00001
NM_001130438.3(SPTAN1):c.201A>T (p.Ala67=) rs765540595 0.00001
NM_001130438.3(SPTAN1):c.2043G>A (p.Gln681=) rs771555109 0.00001
NM_001130438.3(SPTAN1):c.2058T>C (p.Asn686=) rs1015052595 0.00001
NM_001130438.3(SPTAN1):c.2109G>A (p.Ser703=) rs369710857 0.00001
NM_001130438.3(SPTAN1):c.2118C>T (p.Tyr706=) rs760281970 0.00001
NM_001130438.3(SPTAN1):c.2286C>T (p.Leu762=) rs745436802 0.00001
NM_001130438.3(SPTAN1):c.2292T>A (p.Ala764=) rs140939957 0.00001
NM_001130438.3(SPTAN1):c.2326C>T (p.Arg776Trp) rs148258493 0.00001
NM_001130438.3(SPTAN1):c.2371C>A (p.Arg791=) rs769380398 0.00001
NM_001130438.3(SPTAN1):c.238-8G>A rs750970258 0.00001
NM_001130438.3(SPTAN1):c.2394G>A (p.Thr798=) rs768271102 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.2464C>T (p.Leu822=) rs765706270 0.00001
NM_001130438.3(SPTAN1):c.2496A>G (p.Glu832=) rs1245531904 0.00001
NM_001130438.3(SPTAN1):c.2498T>C (p.Ile833Thr) rs904041405 0.00001
NM_001130438.3(SPTAN1):c.2763C>T (p.Asp921=) rs761166458 0.00001
NM_001130438.3(SPTAN1):c.2772T>C (p.Ser924=) rs143939145 0.00001
NM_001130438.3(SPTAN1):c.2778+7A>C rs1481569035 0.00001
NM_001130438.3(SPTAN1):c.2799A>G (p.Glu933=) rs1368341471 0.00001
NM_001130438.3(SPTAN1):c.285C>T (p.Asn95=) rs533717545 0.00001
NM_001130438.3(SPTAN1):c.2871+15G>A rs771636267 0.00001
NM_001130438.3(SPTAN1):c.2910G>A (p.Glu970=) rs763235552 0.00001
NM_001130438.3(SPTAN1):c.2928C>T (p.Tyr976=) rs756378105 0.00001
NM_001130438.3(SPTAN1):c.2978T>C (p.Ile993Thr) rs1215852038 0.00001
NM_001130438.3(SPTAN1):c.3000C>G (p.Thr1000=) rs1194481175 0.00001
NM_001130438.3(SPTAN1):c.3007-19C>T rs779899640 0.00001
NM_001130438.3(SPTAN1):c.3027G>A (p.Val1009=) rs774659049 0.00001
NM_001130438.3(SPTAN1):c.3035G>A (p.Arg1012His) rs1265382491 0.00001
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602 0.00001
NM_001130438.3(SPTAN1):c.3075C>T (p.Asp1025=) rs755615190 0.00001
NM_001130438.3(SPTAN1):c.3081C>G (p.Ala1027=) rs749251486 0.00001
NM_001130438.3(SPTAN1):c.3090C>T (p.Ala1030=) rs1314188538 0.00001
NM_001130438.3(SPTAN1):c.3155+17G>A rs765814431 0.00001
NM_001130438.3(SPTAN1):c.3181A>G (p.Ser1061Gly) rs1369204255 0.00001
NM_001130438.3(SPTAN1):c.3216-18C>T rs372969086 0.00001
NM_001130438.3(SPTAN1):c.3282T>C (p.Phe1094=) rs1045745615 0.00001
NM_001130438.3(SPTAN1):c.3315A>G (p.Gln1105=) rs779226167 0.00001
NM_001130438.3(SPTAN1):c.3357C>T (p.Val1119=) rs1279884865 0.00001
NM_001130438.3(SPTAN1):c.3414+17G>A rs767504664 0.00001
NM_001130438.3(SPTAN1):c.3414+3A>G rs1554752325 0.00001
NM_001130438.3(SPTAN1):c.3415-9G>T rs199802986 0.00001
NM_001130438.3(SPTAN1):c.3543+10G>A rs754641622 0.00001
NM_001130438.3(SPTAN1):c.3543+12G>A rs376482975 0.00001
NM_001130438.3(SPTAN1):c.3543+9C>T rs746280203 0.00001
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004 0.00001
NM_001130438.3(SPTAN1):c.3612C>T (p.Thr1204=) rs1409357698 0.00001
NM_001130438.3(SPTAN1):c.3613T>C (p.Phe1205Leu) rs1334812460 0.00001
NM_001130438.3(SPTAN1):c.363+17C>T rs764216482 0.00001
NM_001130438.3(SPTAN1):c.363+7A>G rs371781354 0.00001
NM_001130438.3(SPTAN1):c.3633G>A (p.Leu1211=) rs1484600745 0.00001
NM_001130438.3(SPTAN1):c.364-19T>C rs200978151 0.00001
NM_001130438.3(SPTAN1):c.3681G>A (p.Gln1227=) rs1307231651 0.00001
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His) rs775634580 0.00001
NM_001130438.3(SPTAN1):c.3719+15C>G rs369108363 0.00001
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641 0.00001
NM_001130438.3(SPTAN1):c.3720-8G>A rs771588342 0.00001
NM_001130438.3(SPTAN1):c.3735C>T (p.Thr1245=) rs942685766 0.00001
NM_001130438.3(SPTAN1):c.3741A>G (p.Glu1247=) rs1248662462 0.00001
NM_001130438.3(SPTAN1):c.3786A>G (p.Gly1262=) rs199902257 0.00001
NM_001130438.3(SPTAN1):c.3801T>C (p.Ser1267=) rs751784689 0.00001
NM_001130438.3(SPTAN1):c.3865-7C>T rs1248978165 0.00001
NM_001130438.3(SPTAN1):c.3948G>A (p.Glu1316=) rs1278108281 0.00001
NM_001130438.3(SPTAN1):c.4008T>C (p.Gly1336=) rs780641212 0.00001
NM_001130438.3(SPTAN1):c.4038C>T (p.Ser1346=) rs768542176 0.00001
NM_001130438.3(SPTAN1):c.4129T>C (p.Leu1377=) rs1220521892 0.00001
NM_001130438.3(SPTAN1):c.4164C>T (p.Ile1388=) rs759713935 0.00001
NM_001130438.3(SPTAN1):c.4174G>A (p.Ala1392Thr) rs972500325 0.00001
NM_001130438.3(SPTAN1):c.4345-10C>T rs996303937 0.00001
NM_001130438.3(SPTAN1):c.4345-8C>T rs1374814925 0.00001
NM_001130438.3(SPTAN1):c.4554C>G (p.Ala1518=) rs765079561 0.00001
NM_001130438.3(SPTAN1):c.4595+9C>T rs771798239 0.00001
NM_001130438.3(SPTAN1):c.4596-19C>G rs1317299803 0.00001
NM_001130438.3(SPTAN1):c.4604G>A (p.Arg1535His) rs745394212 0.00001
NM_001130438.3(SPTAN1):c.4632G>A (p.Arg1544=) rs774198117 0.00001
NM_001130438.3(SPTAN1):c.4722G>A (p.Ala1574=) rs886972447 0.00001
NM_001130438.3(SPTAN1):c.4758+10A>T rs1856301701 0.00001
NM_001130438.3(SPTAN1):c.4759-8T>G rs747171460 0.00001
NM_001130438.3(SPTAN1):c.4774-20A>G rs1856587421 0.00001
NM_001130438.3(SPTAN1):c.4821C>T (p.Asn1607=) rs539062498 0.00001
NM_001130438.3(SPTAN1):c.4905+12C>A rs1272876073 0.00001
NM_001130438.3(SPTAN1):c.4905+18C>G rs751336135 0.00001
NM_001130438.3(SPTAN1):c.4910G>A (p.Arg1637His) rs777707442 0.00001
NM_001130438.3(SPTAN1):c.4926T>C (p.Ala1642=) rs768791824 0.00001
NM_001130438.3(SPTAN1):c.5001C>T (p.Asn1667=) rs781381237 0.00001
NM_001130438.3(SPTAN1):c.5013G>A (p.Gly1671=) rs886063506 0.00001
NM_001130438.3(SPTAN1):c.505-18C>T rs1057522078 0.00001
NM_001130438.3(SPTAN1):c.510A>G (p.Ala170=) rs1404143666 0.00001
NM_001130438.3(SPTAN1):c.5148+17G>A rs758490204 0.00001
NM_001130438.3(SPTAN1):c.5149-10C>T rs587784437 0.00001
NM_001130438.3(SPTAN1):c.5149-15T>C rs370741251 0.00001
NM_001130438.3(SPTAN1):c.5244C>T (p.Asn1748=) rs747794736 0.00001
NM_001130438.3(SPTAN1):c.5280C>G (p.Ser1760=) rs1857089934 0.00001
NM_001130438.3(SPTAN1):c.5361G>A (p.Glu1787=) rs756977702 0.00001
NM_001130438.3(SPTAN1):c.5508C>T (p.Ser1836=) rs777780283 0.00001
NM_001130438.3(SPTAN1):c.5550G>A (p.Leu1850=) rs1857392790 0.00001
NM_001130438.3(SPTAN1):c.55C>A (p.Arg19=) rs748232676 0.00001
NM_001130438.3(SPTAN1):c.5601-17C>T rs762938535 0.00001
NM_001130438.3(SPTAN1):c.5688C>G (p.Thr1896=) rs749391487 0.00001
NM_001130438.3(SPTAN1):c.5733+13C>T rs371182687 0.00001
NM_001130438.3(SPTAN1):c.5784G>A (p.Lys1928=) rs761784727 0.00001
NM_001130438.3(SPTAN1):c.5831A>T (p.Lys1944Met) rs1857813082 0.00001
NM_001130438.3(SPTAN1):c.5832+16T>C rs1308278456 0.00001
NM_001130438.3(SPTAN1):c.5832+18G>A rs1447545553 0.00001
NM_001130438.3(SPTAN1):c.5832+9A>G rs1431187706 0.00001
NM_001130438.3(SPTAN1):c.5833-5C>T rs1326464989 0.00001
NM_001130438.3(SPTAN1):c.5853C>T (p.Asn1951=) rs776448694 0.00001
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=) rs372782253 0.00001
NM_001130438.3(SPTAN1):c.5929C>T (p.Leu1977=) rs745668882 0.00001
NM_001130438.3(SPTAN1):c.5973C>T (p.Asp1991=) rs1060504931 0.00001
NM_001130438.3(SPTAN1):c.5979G>A (p.Val1993=) rs1413553922 0.00001
NM_001130438.3(SPTAN1):c.6054G>A (p.Thr2018=) rs1480779005 0.00001
NM_001130438.3(SPTAN1):c.6058C>T (p.Leu2020Phe) rs751012803 0.00001
NM_001130438.3(SPTAN1):c.6078T>C (p.Phe2026=) rs776794393 0.00001
NM_001130438.3(SPTAN1):c.6117C>G (p.Ala2039=) rs1310120255 0.00001
NM_001130438.3(SPTAN1):c.6147C>T (p.Leu2049=) rs778917848 0.00001
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120 0.00001
NM_001130438.3(SPTAN1):c.6240C>T (p.Arg2080=) rs757354191 0.00001
NM_001130438.3(SPTAN1):c.6270C>T (p.His2090=) rs370102482 0.00001
NM_001130438.3(SPTAN1):c.6312G>A (p.Lys2104=) rs759120249 0.00001
NM_001130438.3(SPTAN1):c.6321C>T (p.Ala2107=) rs769488004 0.00001
NM_001130438.3(SPTAN1):c.6414C>T (p.His2138=) rs537595625 0.00001
NM_001130438.3(SPTAN1):c.6453C>T (p.Asp2151=) rs376208532 0.00001
NM_001130438.3(SPTAN1):c.651+10A>G rs1851181711 0.00001
NM_001130438.3(SPTAN1):c.652-5T>C rs1029752624 0.00001
NM_001130438.3(SPTAN1):c.6594G>A (p.Leu2198=) rs776820062 0.00001
NM_001130438.3(SPTAN1):c.6707+8T>C rs759068430 0.00001
NM_001130438.3(SPTAN1):c.6708-6G>A rs375772117 0.00001
NM_001130438.3(SPTAN1):c.6729G>A (p.Ser2243=) rs140856932 0.00001
NM_001130438.3(SPTAN1):c.6738C>T (p.Leu2246=) rs762644827 0.00001
NM_001130438.3(SPTAN1):c.6763-12C>T rs774215534 0.00001
NM_001130438.3(SPTAN1):c.6763-5T>C rs1442294534 0.00001
NM_001130438.3(SPTAN1):c.6763-7C>T rs587784439 0.00001
NM_001130438.3(SPTAN1):c.6790A>C (p.Arg2264=) rs766550915 0.00001
NM_001130438.3(SPTAN1):c.7013+10G>A rs759648854 0.00001
NM_001130438.3(SPTAN1):c.7013+19G>A rs370654629 0.00001
NM_001130438.3(SPTAN1):c.7014-20C>T rs1444973251 0.00001
NM_001130438.3(SPTAN1):c.7068C>T (p.Cys2356=) rs538402865 0.00001
NM_001130438.3(SPTAN1):c.7073G>A (p.Arg2358His) rs773474201 0.00001
NM_001130438.3(SPTAN1):c.7160+16C>T rs772488907 0.00001
NM_001130438.3(SPTAN1):c.7161-13C>T rs1489017459 0.00001
NM_001130438.3(SPTAN1):c.7209C>T (p.Arg2403=) rs778129817 0.00001
NM_001130438.3(SPTAN1):c.7275A>G (p.Gly2425=) rs1239084886 0.00001
NM_001130438.3(SPTAN1):c.7308+9C>T rs1860031125 0.00001
NM_001130438.3(SPTAN1):c.7309-17C>T rs1860104765 0.00001
NM_001130438.3(SPTAN1):c.7309-7C>T rs866813546 0.00001
NM_001130438.3(SPTAN1):c.7329C>T (p.Ala2443=) rs769426014 0.00001
NM_001130438.3(SPTAN1):c.7338C>T (p.Cys2446=) rs374405583 0.00001
NM_001130438.3(SPTAN1):c.7350G>A (p.Met2450Ile) rs761874094 0.00001
NM_001130438.3(SPTAN1):c.7377C>T (p.Arg2459=) rs756798259 0.00001
NM_001130438.3(SPTAN1):c.785+12G>C rs774982401 0.00001
NM_001130438.3(SPTAN1):c.84C>T (p.Arg28=) rs1447324542 0.00001
NM_001130438.3(SPTAN1):c.859C>T (p.Leu287=) rs1851406473 0.00001
NM_001130438.3(SPTAN1):c.873G>A (p.Gln291=) rs891278524 0.00001
NM_001130438.3(SPTAN1):c.891C>T (p.His297=) rs774303070 0.00001
NM_001130438.3(SPTAN1):c.1008A>G (p.Arg336=)
NM_001130438.3(SPTAN1):c.1014A>G (p.Glu338=)
NM_001130438.3(SPTAN1):c.1050G>A (p.Ala350=) rs752710398
NM_001130438.3(SPTAN1):c.1066C>T (p.Arg356Trp) rs370695453
NM_001130438.3(SPTAN1):c.1077T>C (p.Asp359=) rs768294119
NM_001130438.3(SPTAN1):c.1080A>C (p.Ser360=) rs1192539733
NM_001130438.3(SPTAN1):c.1080A>T (p.Ser360=)
NM_001130438.3(SPTAN1):c.1085+13C>A
NM_001130438.3(SPTAN1):c.1085+3G>A rs1420995845
NM_001130438.3(SPTAN1):c.1085+3_1085+4delinsTT rs1851440097
NM_001130438.3(SPTAN1):c.1085+8T>G
NM_001130438.3(SPTAN1):c.1086-11G>C
NM_001130438.3(SPTAN1):c.1086-18_1086-17delinsAA rs1554742449
NM_001130438.3(SPTAN1):c.1113T>C (p.Arg371=) rs769668578
NM_001130438.3(SPTAN1):c.1116C>T (p.Asp372=)
NM_001130438.3(SPTAN1):c.1119C>T (p.Leu373=) rs1239261034
NM_001130438.3(SPTAN1):c.1131G>A (p.Val377=)
NM_001130438.3(SPTAN1):c.1149C>T (p.Leu383=) rs2131029682
NM_001130438.3(SPTAN1):c.1158A>G (p.Ala386=)
NM_001130438.3(SPTAN1):c.1164G>A (p.Glu388=)
NM_001130438.3(SPTAN1):c.1176T>C (p.Asp392=) rs758571561
NM_001130438.3(SPTAN1):c.1179G>C (p.Val393=)
NM_001130438.3(SPTAN1):c.1186G>A (p.Ala396Thr) rs1851525959
NM_001130438.3(SPTAN1):c.120G>A (p.Leu40=) rs2132958989
NM_001130438.3(SPTAN1):c.1218C>T (p.His406=) rs2131030883
NM_001130438.3(SPTAN1):c.1221+13C>G
NM_001130438.3(SPTAN1):c.1221+7G>A
NM_001130438.3(SPTAN1):c.1221+8T>C
NM_001130438.3(SPTAN1):c.1222-16T>G
NM_001130438.3(SPTAN1):c.1222-17G>C
NM_001130438.3(SPTAN1):c.1222-20T>C
NM_001130438.3(SPTAN1):c.1222-4G>T
NM_001130438.3(SPTAN1):c.1222-6C>T
NM_001130438.3(SPTAN1):c.1222-7C>A rs2131060807
NM_001130438.3(SPTAN1):c.1239T>C (p.His413=) rs1851707590
NM_001130438.3(SPTAN1):c.1251C>T (p.Phe417=) rs2131061265
NM_001130438.3(SPTAN1):c.1263T>C (p.Asp421=)
NM_001130438.3(SPTAN1):c.1269T>C (p.Ser423=)
NM_001130438.3(SPTAN1):c.1271G>T (p.Gly424Val) rs2131061695
NM_001130438.3(SPTAN1):c.1281G>C (p.Leu427=)
NM_001130438.3(SPTAN1):c.1287T>C (p.Ala429=)
NM_001130438.3(SPTAN1):c.129C>A (p.Ser43=)
NM_001130438.3(SPTAN1):c.1308T>C (p.Asp436=)
NM_001130438.3(SPTAN1):c.1323+15A>C rs756784077
NM_001130438.3(SPTAN1):c.1324-20A>T
NM_001130438.3(SPTAN1):c.1324-4C>A rs2131087438
NM_001130438.3(SPTAN1):c.1324-7C>T
NM_001130438.3(SPTAN1):c.133C>A (p.Arg45=)
NM_001130438.3(SPTAN1):c.1350G>T (p.Ala450=)
NM_001130438.3(SPTAN1):c.1353G>A (p.Ala451=)
NM_001130438.3(SPTAN1):c.1362G>A (p.Glu454=) rs144590741
NM_001130438.3(SPTAN1):c.1380G>A (p.Arg460=)
NM_001130438.3(SPTAN1):c.1395G>A (p.Gln465=) rs1851874223
NM_001130438.3(SPTAN1):c.1399A>G (p.Met467Val) rs1851874498
NM_001130438.3(SPTAN1):c.1443C>T (p.Asn481=)
NM_001130438.3(SPTAN1):c.1461+15A>C
NM_001130438.3(SPTAN1):c.1461+19C>G
NM_001130438.3(SPTAN1):c.1464G>A (p.Ala488=)
NM_001130438.3(SPTAN1):c.1468C>T (p.Leu490=)
NM_001130438.3(SPTAN1):c.1497G>A (p.Leu499=)
NM_001130438.3(SPTAN1):c.154G>A (p.Asp52Asn) rs1564194636
NM_001130438.3(SPTAN1):c.1572+8C>T rs2131109494
NM_001130438.3(SPTAN1):c.1573-11T>G
NM_001130438.3(SPTAN1):c.1573-14A>G
NM_001130438.3(SPTAN1):c.1573-4C>G
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.159T>A (p.Ala53=)
NM_001130438.3(SPTAN1):c.1650+13G>A rs2131124699
NM_001130438.3(SPTAN1):c.1650+20A>G rs1589212297
NM_001130438.3(SPTAN1):c.1650+8T>C rs2131124451
NM_001130438.3(SPTAN1):c.1653G>A (p.Leu551=) rs2131127973
NM_001130438.3(SPTAN1):c.1662C>T (p.Arg554=) rs1398071492
NM_001130438.3(SPTAN1):c.1668T>C (p.Asn556=) rs1406334272
NM_001130438.3(SPTAN1):c.1698G>A (p.Arg566=) rs2131129556
NM_001130438.3(SPTAN1):c.1767C>T (p.Val589=)
NM_001130438.3(SPTAN1):c.1778T>C (p.Met593Thr) rs1382899008
NM_001130438.3(SPTAN1):c.1806+18T>A
NM_001130438.3(SPTAN1):c.1807-13_1807-11del
NM_001130438.3(SPTAN1):c.1807-16C>A
NM_001130438.3(SPTAN1):c.1807-16C>G
NM_001130438.3(SPTAN1):c.1807-17C>T rs1057524223
NM_001130438.3(SPTAN1):c.1807-9T>C
NM_001130438.3(SPTAN1):c.1833A>G (p.Val611=) rs2131137645
NM_001130438.3(SPTAN1):c.1866A>G (p.Ser622=)
NM_001130438.3(SPTAN1):c.1881A>C (p.Arg627=)
NM_001130438.3(SPTAN1):c.190C>A (p.Leu64Ile) rs1589149870
NM_001130438.3(SPTAN1):c.1929C>T (p.His643=)
NM_001130438.3(SPTAN1):c.195G>A (p.Gln65=) rs2132960242
NM_001130438.3(SPTAN1):c.1992A>G (p.Leu664=)
NM_001130438.3(SPTAN1):c.2011+11T>C
NM_001130438.3(SPTAN1):c.2011+15A>G
NM_001130438.3(SPTAN1):c.2011+16T>C
NM_001130438.3(SPTAN1):c.2011+18G>A
NM_001130438.3(SPTAN1):c.2012-4A>G
NM_001130438.3(SPTAN1):c.2019G>A (p.Lys673=)
NM_001130438.3(SPTAN1):c.201A>G (p.Ala67=)
NM_001130438.3(SPTAN1):c.2040A>G (p.Gln680=) rs1589216696
NM_001130438.3(SPTAN1):c.2082A>T (p.Leu694=) rs2131151846
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp) rs1554746116
NM_001130438.3(SPTAN1):c.210G>A (p.Glu70=)
NM_001130438.3(SPTAN1):c.2148C>G (p.Leu716=)
NM_001130438.3(SPTAN1):c.2148C>T (p.Leu716=)
NM_001130438.3(SPTAN1):c.2175A>G (p.Ala725=) rs2131153544
NM_001130438.3(SPTAN1):c.2187T>A (p.Ala729=)
NM_001130438.3(SPTAN1):c.2193+13G>A
NM_001130438.3(SPTAN1):c.2193+14G>A
NM_001130438.3(SPTAN1):c.2193+15G>A
NM_001130438.3(SPTAN1):c.2193+17G>T
NM_001130438.3(SPTAN1):c.2193+18C>A
NM_001130438.3(SPTAN1):c.2194-15C>T
NM_001130438.3(SPTAN1):c.2194-20C>T
NM_001130438.3(SPTAN1):c.2196C>T (p.Asp732=) rs757365265
NM_001130438.3(SPTAN1):c.2207G>A (p.Gly736Asp) rs868177632
NM_001130438.3(SPTAN1):c.2262C>T (p.Asn754=)
NM_001130438.3(SPTAN1):c.2289G>A (p.Val763=)
NM_001130438.3(SPTAN1):c.2298T>C (p.Tyr766=) rs2131162364
NM_001130438.3(SPTAN1):c.2304A>C (p.Ala768=) rs750518161
NM_001130438.3(SPTAN1):c.2304A>G (p.Ala768=) rs750518161
NM_001130438.3(SPTAN1):c.2316C>G (p.Pro772=) rs2131162953
NM_001130438.3(SPTAN1):c.2322T>G (p.Val774=) rs1852316309
NM_001130438.3(SPTAN1):c.2338C>T (p.Leu780=)
NM_001130438.3(SPTAN1):c.2340G>A (p.Leu780=)
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.2343_2344delinsAA (p.Asp782Asn)
NM_001130438.3(SPTAN1):c.2350C>T (p.Leu784=) rs2131163659
NM_001130438.3(SPTAN1):c.237+12C>T
NM_001130438.3(SPTAN1):c.237+9G>C rs368690134
NM_001130438.3(SPTAN1):c.238-13G>A
NM_001130438.3(SPTAN1):c.2401C>A (p.Arg801=) rs2131164463
NM_001130438.3(SPTAN1):c.2421C>A (p.Ala807=) rs1329573763
NM_001130438.3(SPTAN1):c.2437+13C>T
NM_001130438.3(SPTAN1):c.2438-14del rs1459543412
NM_001130438.3(SPTAN1):c.2438-19G>A rs760955571
NM_001130438.3(SPTAN1):c.2439T>C (p.Gly813=) rs2131169619
NM_001130438.3(SPTAN1):c.2457C>T (p.Val819=) rs2131169778
NM_001130438.3(SPTAN1):c.2466G>A (p.Leu822=) rs2131169980
NM_001130438.3(SPTAN1):c.2481A>T (p.Gln827His) rs764460035
NM_001130438.3(SPTAN1):c.2513C>T (p.Pro838Leu) rs1589220462
NM_001130438.3(SPTAN1):c.2517C>T (p.Arg839=) rs2131170700
NM_001130438.3(SPTAN1):c.252G>A (p.Lys84=)
NM_001130438.3(SPTAN1):c.2538G>A (p.Lys846=) rs754477004
NM_001130438.3(SPTAN1):c.2541G>A (p.Gly847=)
NM_001130438.3(SPTAN1):c.2547C>G (p.Ala849=) rs1554746826
NM_001130438.3(SPTAN1):c.2547C>T (p.Ala849=)
NM_001130438.3(SPTAN1):c.2560+10T>C rs2131171607
NM_001130438.3(SPTAN1):c.2560+19T>C rs2131171763
NM_001130438.3(SPTAN1):c.2560+8_2560+11del
NM_001130438.3(SPTAN1):c.2560+9T>G
NM_001130438.3(SPTAN1):c.2561-10C>T rs1268108012
NM_001130438.3(SPTAN1):c.2561-8T>C
NM_001130438.3(SPTAN1):c.2580T>C (p.Asp860=) rs1589223768
NM_001130438.3(SPTAN1):c.2592G>A (p.Lys864=) rs2131193482
NM_001130438.3(SPTAN1):c.2604G>A (p.Leu868=)
NM_001130438.3(SPTAN1):c.2652G>A (p.Gln884=)
NM_001130438.3(SPTAN1):c.2656C>T (p.Leu886=)
NM_001130438.3(SPTAN1):c.2721G>A (p.Arg907=)
NM_001130438.3(SPTAN1):c.2733C>T (p.Pro911=) rs768756536
NM_001130438.3(SPTAN1):c.2736T>C (p.Ile912=)
NM_001130438.3(SPTAN1):c.2752T>A (p.Tyr918Asn) rs1589224403
NM_001130438.3(SPTAN1):c.276G>A (p.Val92=)
NM_001130438.3(SPTAN1):c.2778+10C>A rs369106919
NM_001130438.3(SPTAN1):c.2778+11G>A
NM_001130438.3(SPTAN1):c.2778+19C>T
NM_001130438.3(SPTAN1):c.2778+9G>C rs2131197048
NM_001130438.3(SPTAN1):c.2779-13G>A
NM_001130438.3(SPTAN1):c.2779-18G>A
NM_001130438.3(SPTAN1):c.2779-20A>C
NM_001130438.3(SPTAN1):c.2781T>C (p.Ala927=) rs1263461316
NM_001130438.3(SPTAN1):c.2781T>G (p.Ala927=) rs1263461316
NM_001130438.3(SPTAN1):c.2784A>G (p.Leu928=) rs1428549846
NM_001130438.3(SPTAN1):c.2785C>T (p.Leu929=) rs1057522083
NM_001130438.3(SPTAN1):c.279G>A (p.Gln93=) rs1238640716
NM_001130438.3(SPTAN1):c.2811A>G (p.Ser937=) rs2131238281
NM_001130438.3(SPTAN1):c.282C>T (p.Ala94=)
NM_001130438.3(SPTAN1):c.2850A>G (p.Arg950=)
NM_001130438.3(SPTAN1):c.2869C>A (p.Arg957=)
NM_001130438.3(SPTAN1):c.2872-14del rs1853033407
NM_001130438.3(SPTAN1):c.2872-20_2872-10del
NM_001130438.3(SPTAN1):c.288A>G (p.Ser96=)
NM_001130438.3(SPTAN1):c.2901T>C (p.Thr967=)
NM_001130438.3(SPTAN1):c.2916C>G (p.Val972=)
NM_001130438.3(SPTAN1):c.2916C>T (p.Val972=)
NM_001130438.3(SPTAN1):c.2952A>G (p.Arg984=) rs1336849990
NM_001130438.3(SPTAN1):c.2994C>T (p.Asn998=) rs1470152077
NM_001130438.3(SPTAN1):c.3006+10A>C
NM_001130438.3(SPTAN1):c.3006+13G>A
NM_001130438.3(SPTAN1):c.3006+17G>A rs1853056982
NM_001130438.3(SPTAN1):c.3007-16C>T
NM_001130438.3(SPTAN1):c.3007-3del rs1589245726
NM_001130438.3(SPTAN1):c.3007-5C>G
NM_001130438.3(SPTAN1):c.3045T>C (p.Phe1015=)
NM_001130438.3(SPTAN1):c.3048G>T (p.Val1016=)
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.3057G>T (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.3081C>A (p.Ala1027=)
NM_001130438.3(SPTAN1):c.3087A>G (p.Ser1029=)
NM_001130438.3(SPTAN1):c.3088G>C (p.Ala1030Pro) rs1554751018
NM_001130438.3(SPTAN1):c.3094C>A (p.Arg1032=)
NM_001130438.3(SPTAN1):c.3155+11C>T
NM_001130438.3(SPTAN1):c.3156-12C>A rs1328344344
NM_001130438.3(SPTAN1):c.3156-15G>A
NM_001130438.3(SPTAN1):c.3156-17G>C
NM_001130438.3(SPTAN1):c.315T>C (p.Thr105=) rs1182605348
NM_001130438.3(SPTAN1):c.3177C>G (p.Ala1059=) rs369531936
NM_001130438.3(SPTAN1):c.3215+11T>C
NM_001130438.3(SPTAN1):c.3215+12G>T
NM_001130438.3(SPTAN1):c.3215+15A>T rs367678277
NM_001130438.3(SPTAN1):c.3215+15_3215+16del rs551595039
NM_001130438.3(SPTAN1):c.3215+9G>A
NM_001130438.3(SPTAN1):c.3216-17C>G rs376147583
NM_001130438.3(SPTAN1):c.3216-17C>T
NM_001130438.3(SPTAN1):c.3228G>A (p.Leu1076=)
NM_001130438.3(SPTAN1):c.3267G>A (p.Lys1089=) rs2131360582
NM_001130438.3(SPTAN1):c.3321C>T (p.Ile1107=)
NM_001130438.3(SPTAN1):c.3336C>T (p.Ala1112=)
NM_001130438.3(SPTAN1):c.3360A>G (p.Gly1120=)
NM_001130438.3(SPTAN1):c.3390G>A (p.Gln1130=) rs2131361631
NM_001130438.3(SPTAN1):c.3414+12C>T rs2131361950
NM_001130438.3(SPTAN1):c.3415-14C>T
NM_001130438.3(SPTAN1):c.348A>G (p.Ala116=)
NM_001130438.3(SPTAN1):c.3512A>G (p.Gln1171Arg) rs2131438786
NM_001130438.3(SPTAN1):c.3519+5GT[3]
NM_001130438.3(SPTAN1):c.3519+7G>A
NM_001130438.3(SPTAN1):c.3519+9C>G
NM_001130438.3(SPTAN1):c.3520-15T>C
NM_001130438.3(SPTAN1):c.3520-17TC[6]
NM_001130438.3(SPTAN1):c.3528T>C (p.Tyr1176=) rs1589272670
NM_001130438.3(SPTAN1):c.3540C>G (p.Pro1180=) rs1060504932
NM_001130438.3(SPTAN1):c.3543+13T>C
NM_001130438.3(SPTAN1):c.3543+14G>C
NM_001130438.3(SPTAN1):c.3543+16TG[3]
NM_001130438.3(SPTAN1):c.3543+19G>A
NM_001130438.3(SPTAN1):c.3544-15T>G rs2131474529
NM_001130438.3(SPTAN1):c.3544-17C>T
NM_001130438.3(SPTAN1):c.3544-7dup
NM_001130438.3(SPTAN1):c.3567C>A (p.Ala1189=) rs2131475513
NM_001130438.3(SPTAN1):c.3573G>A (p.Pro1191=) rs781021400
NM_001130438.3(SPTAN1):c.3579+21del rs2131476505
NM_001130438.3(SPTAN1):c.3579+8C>A rs1854910788
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.3580-8C>G
NM_001130438.3(SPTAN1):c.3603C>T (p.Thr1201=)
NM_001130438.3(SPTAN1):c.3628-10T>C rs975869088
NM_001130438.3(SPTAN1):c.3628-16T>C
NM_001130438.3(SPTAN1):c.3628-18T>C rs2131557625
NM_001130438.3(SPTAN1):c.3628-19A>T rs1054939979
NM_001130438.3(SPTAN1):c.363+14G>A
NM_001130438.3(SPTAN1):c.363+18G>T
NM_001130438.3(SPTAN1):c.364-14T>A rs1851102352
NM_001130438.3(SPTAN1):c.364-20C>T rs780867742
NM_001130438.3(SPTAN1):c.364-7C>T
NM_001130438.3(SPTAN1):c.3663G>A (p.Leu1221=)
NM_001130438.3(SPTAN1):c.3666C>T (p.Ala1222=) rs372831978
NM_001130438.3(SPTAN1):c.366C>T (p.Thr122=)
NM_001130438.3(SPTAN1):c.3719+12_3719+14del rs1013786773
NM_001130438.3(SPTAN1):c.3719+13C>A rs558756418
NM_001130438.3(SPTAN1):c.3719+13C>G
NM_001130438.3(SPTAN1):c.3719+14C>T rs2131559207
NM_001130438.3(SPTAN1):c.3719+16T>C
NM_001130438.3(SPTAN1):c.3719+18G>A rs2131559361
NM_001130438.3(SPTAN1):c.3719+19G>T
NM_001130438.3(SPTAN1):c.3720-17A>G
NM_001130438.3(SPTAN1):c.3720-8G>C
NM_001130438.3(SPTAN1):c.3720-9C>T
NM_001130438.3(SPTAN1):c.3722A>G (p.Asp1241Gly) rs2131571144
NM_001130438.3(SPTAN1):c.372G>A (p.Leu124=)
NM_001130438.3(SPTAN1):c.3783T>C (p.Tyr1261=) rs1589296050
NM_001130438.3(SPTAN1):c.3789T>C (p.His1263=) rs1855655548
NM_001130438.3(SPTAN1):c.3804C>T (p.Val1268=)
NM_001130438.3(SPTAN1):c.3810C>T (p.Ala1270=)
NM_001130438.3(SPTAN1):c.3817C>T (p.Arg1273Cys) rs1160926095
NM_001130438.3(SPTAN1):c.381G>A (p.Leu127=)
NM_001130438.3(SPTAN1):c.3834C>T (p.Phe1278=) rs1589296272
NM_001130438.3(SPTAN1):c.3840G>A (p.Arg1280=)
NM_001130438.3(SPTAN1):c.3855C>T (p.Leu1285=) rs370435310
NM_001130438.3(SPTAN1):c.3864+10C>A
NM_001130438.3(SPTAN1):c.3864+16G>A rs2131573539
NM_001130438.3(SPTAN1):c.3865-16C>A
NM_001130438.3(SPTAN1):c.3865-4A>T rs769349794
NM_001130438.3(SPTAN1):c.3865-8T>C rs1197311171
NM_001130438.3(SPTAN1):c.3867A>C (p.Val1289=)
NM_001130438.3(SPTAN1):c.3885A>G (p.Thr1295=)
NM_001130438.3(SPTAN1):c.3903G>T (p.Gln1301His) rs1232892387
NM_001130438.3(SPTAN1):c.3906C>G (p.Ser1302=) rs1855689306
NM_001130438.3(SPTAN1):c.396A>G (p.Glu132=) rs1589176632
NM_001130438.3(SPTAN1):c.3981T>G (p.Arg1327=) rs1855698042
NM_001130438.3(SPTAN1):c.3999A>G (p.Ala1333=)
NM_001130438.3(SPTAN1):c.4011C>T (p.Asp1337=) rs1296309754
NM_001130438.3(SPTAN1):c.4020C>T (p.Asp1340=) rs2131577299
NM_001130438.3(SPTAN1):c.4023G>C (p.Leu1341=)
NM_001130438.3(SPTAN1):c.4029C>A (p.Arg1343=)
NM_001130438.3(SPTAN1):c.4033C>G (p.Leu1345Val) rs1589297894
NM_001130438.3(SPTAN1):c.4046+11A>G rs765778684
NM_001130438.3(SPTAN1):c.4046+12T>C
NM_001130438.3(SPTAN1):c.4047-14G>A
NM_001130438.3(SPTAN1):c.4047-14G>C rs558154123
NM_001130438.3(SPTAN1):c.4047-18T>G
NM_001130438.3(SPTAN1):c.4048G>A (p.Asp1350Asn) rs1564278818
NM_001130438.3(SPTAN1):c.4071A>G (p.Gly1357=)
NM_001130438.3(SPTAN1):c.4125G>A (p.Glu1375=)
NM_001130438.3(SPTAN1):c.4128A>T (p.Ala1376=) rs2131613638
NM_001130438.3(SPTAN1):c.4138C>A (p.Arg1380=)
NM_001130438.3(SPTAN1):c.4143C>T (p.His1381=)
NM_001130438.3(SPTAN1):c.4146+10C>G
NM_001130438.3(SPTAN1):c.4146+12T>C
NM_001130438.3(SPTAN1):c.4147-10C>T rs1856089219
NM_001130438.3(SPTAN1):c.4147-10_4147-8del rs1589309345
NM_001130438.3(SPTAN1):c.4147-20C>A
NM_001130438.3(SPTAN1):c.4170C>T (p.Ala1390=) rs1589309475
NM_001130438.3(SPTAN1):c.4197G>A (p.Glu1399=) rs367635991
NM_001130438.3(SPTAN1):c.420A>G (p.Glu140=)
NM_001130438.3(SPTAN1):c.4215G>A (p.Leu1405=)
NM_001130438.3(SPTAN1):c.4215G>T (p.Leu1405=) rs754607337
NM_001130438.3(SPTAN1):c.4227A>G (p.Gly1409=)
NM_001130438.3(SPTAN1):c.4263T>C (p.Asp1421=)
NM_001130438.3(SPTAN1):c.4266T>C (p.Ile1422=)
NM_001130438.3(SPTAN1):c.4278G>A (p.Glu1426=) rs2131617669
NM_001130438.3(SPTAN1):c.4344+10C>T
NM_001130438.3(SPTAN1):c.4344+12C>T
NM_001130438.3(SPTAN1):c.4344+13C>T
NM_001130438.3(SPTAN1):c.4345-13T>A
NM_001130438.3(SPTAN1):c.4345-18G>T
NM_001130438.3(SPTAN1):c.4345-19T>G
NM_001130438.3(SPTAN1):c.4345-9C>A
NM_001130438.3(SPTAN1):c.4392G>A (p.Arg1464=)
NM_001130438.3(SPTAN1):c.4458A>G (p.Lys1486=) rs1411742904
NM_001130438.3(SPTAN1):c.4479G>T (p.Ala1493=) rs201716851
NM_001130438.3(SPTAN1):c.4482T>C (p.Ile1494=)
NM_001130438.3(SPTAN1):c.4491+12G>A
NM_001130438.3(SPTAN1):c.4491+17A>G
NM_001130438.3(SPTAN1):c.4491+18T>C rs777889951
NM_001130438.3(SPTAN1):c.4491+8C>T
NM_001130438.3(SPTAN1):c.4491+9T>C rs894723847
NM_001130438.3(SPTAN1):c.4492-20A>G rs944908728
NM_001130438.3(SPTAN1):c.4497G>A (p.Glu1499=)
NM_001130438.3(SPTAN1):c.4515G>A (p.Gln1505=) rs1430495860
NM_001130438.3(SPTAN1):c.4518C>A (p.Ala1506=) rs777801455
NM_001130438.3(SPTAN1):c.4518C>G (p.Ala1506=) rs777801455
NM_001130438.3(SPTAN1):c.4518C>T (p.Ala1506=)
NM_001130438.3(SPTAN1):c.4533C>G (p.Leu1511=) rs375026050
NM_001130438.3(SPTAN1):c.4542C>T (p.Ala1514=)
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys) rs149899658
NM_001130438.3(SPTAN1):c.4552G>A (p.Ala1518Thr) rs1564282020
NM_001130438.3(SPTAN1):c.4569T>C (p.Ser1523=) rs757364140
NM_001130438.3(SPTAN1):c.456G>T (p.Val152=) rs1589176928
NM_001130438.3(SPTAN1):c.4595+18C>T
NM_001130438.3(SPTAN1):c.4595+7G>A
NM_001130438.3(SPTAN1):c.45C>T (p.Ile15=) rs1589149454
NM_001130438.3(SPTAN1):c.4605T>C (p.Arg1535=)
NM_001130438.3(SPTAN1):c.4614C>T (p.Ala1538=) rs769733032
NM_001130438.3(SPTAN1):c.4630A>C (p.Arg1544=) rs373650761
NM_001130438.3(SPTAN1):c.4641A>G (p.Leu1547=)
NM_001130438.3(SPTAN1):c.4653A>G (p.Gln1551=) rs2131635657
NM_001130438.3(SPTAN1):c.4672C>A (p.Arg1558=)
NM_001130438.3(SPTAN1):c.4674G>T (p.Arg1558=) rs1554758298
NM_001130438.3(SPTAN1):c.4677T>C (p.Asp1559=) rs2131635862
NM_001130438.3(SPTAN1):c.4686G>A (p.Glu1562=) rs2131635933
NM_001130438.3(SPTAN1):c.4716A>G (p.Gln1572=) rs755612920
NM_001130438.3(SPTAN1):c.4734G>A (p.Ser1578=) rs370640807
NM_001130438.3(SPTAN1):c.4734G>T (p.Ser1578=)
NM_001130438.3(SPTAN1):c.4758+14A>T
NM_001130438.3(SPTAN1):c.4758+17G>A
NM_001130438.3(SPTAN1):c.4758+5G>A rs1589316336
NM_001130438.3(SPTAN1):c.4759-12C>T
NM_001130438.3(SPTAN1):c.4767G>A (p.Lys1589=)
NM_001130438.3(SPTAN1):c.4773+20A>G
NM_001130438.3(SPTAN1):c.4774-17T>G
NM_001130438.3(SPTAN1):c.4774-8A>G
NM_001130438.3(SPTAN1):c.47A>G (p.Gln16Arg) rs2132957298
NM_001130438.3(SPTAN1):c.4806A>C (p.Ala1602=)
NM_001130438.3(SPTAN1):c.4815T>C (p.His1605=) rs2131676265
NM_001130438.3(SPTAN1):c.4839G>A (p.Gly1613=)
NM_001130438.3(SPTAN1):c.4845C>T (p.Ile1615=)
NM_001130438.3(SPTAN1):c.4863C>T (p.Leu1621=)
NM_001130438.3(SPTAN1):c.4884C>T (p.Ala1628=) rs759241143
NM_001130438.3(SPTAN1):c.4905+11C>G
NM_001130438.3(SPTAN1):c.4905+19dup rs763250092
NM_001130438.3(SPTAN1):c.4905+9C>G
NM_001130438.3(SPTAN1):c.4906-6C>G
NM_001130438.3(SPTAN1):c.4929C>T (p.Asp1643=) rs1379977913
NM_001130438.3(SPTAN1):c.4947G>A (p.Val1649=)
NM_001130438.3(SPTAN1):c.4956A>G (p.Ser1652=)
NM_001130438.3(SPTAN1):c.4958C>T (p.Ala1653Val) rs374723711
NM_001130438.3(SPTAN1):c.4995G>A (p.Gln1665=) rs2131682537
NM_001130438.3(SPTAN1):c.5016C>T (p.Ile1672=)
NM_001130438.3(SPTAN1):c.501C>T (p.Asp167=) rs1851117702
NM_001130438.3(SPTAN1):c.5035C>T (p.Leu1679=)
NM_001130438.3(SPTAN1):c.504+14A>C
NM_001130438.3(SPTAN1):c.5043+11G>A
NM_001130438.3(SPTAN1):c.5043+7C>T
NM_001130438.3(SPTAN1):c.5044-11_5044-10dup
NM_001130438.3(SPTAN1):c.5044-8A>G
NM_001130438.3(SPTAN1):c.505-15A>G
NM_001130438.3(SPTAN1):c.505-16T>C
NM_001130438.3(SPTAN1):c.505-20C>T rs779640676
NM_001130438.3(SPTAN1):c.5058G>A (p.Leu1686=)
NM_001130438.3(SPTAN1):c.5076C>A (p.Gly1692=) rs761438413
NM_001130438.3(SPTAN1):c.5091T>C (p.Ser1697=)
NM_001130438.3(SPTAN1):c.5119C>T (p.Leu1707=)
NM_001130438.3(SPTAN1):c.5136A>T (p.Ile1712=) rs1426233215
NM_001130438.3(SPTAN1):c.513T>C (p.Ile171=) rs777942959
NM_001130438.3(SPTAN1):c.5145T>C (p.His1715=) rs1392565711
NM_001130438.3(SPTAN1):c.5148+12G>C
NM_001130438.3(SPTAN1):c.5148+14G>A
NM_001130438.3(SPTAN1):c.5148+16C>A rs765477570
NM_001130438.3(SPTAN1):c.5148+18G>A
NM_001130438.3(SPTAN1):c.5149-14G>A
NM_001130438.3(SPTAN1):c.5149-6C>A
NM_001130438.3(SPTAN1):c.5149-8del
NM_001130438.3(SPTAN1):c.5202C>T (p.Ala1734=) rs2131744231
NM_001130438.3(SPTAN1):c.5304C>T (p.Ser1768=) rs1057524335
NM_001130438.3(SPTAN1):c.5310C>T (p.Arg1770=)
NM_001130438.3(SPTAN1):c.5325C>T (p.Phe1775=)
NM_001130438.3(SPTAN1):c.5337T>C (p.Asp1779=)
NM_001130438.3(SPTAN1):c.5358-12TC[2] rs769628464
NM_001130438.3(SPTAN1):c.5358-14C>T rs2131789214
NM_001130438.3(SPTAN1):c.5358-15C>T
NM_001130438.3(SPTAN1):c.5358-16C>G rs143969764
NM_001130438.3(SPTAN1):c.5358-20G>A rs767012741
NM_001130438.3(SPTAN1):c.5373G>T (p.Leu1791=)
NM_001130438.3(SPTAN1):c.5382A>C (p.Ser1794=) rs1359210582
NM_001130438.3(SPTAN1):c.5433C>T (p.His1811=) rs772382171
NM_001130438.3(SPTAN1):c.5461C>T (p.His1821Tyr) rs1589352062
NM_001130438.3(SPTAN1):c.5463T>C (p.His1821=)
NM_001130438.3(SPTAN1):c.5478+11C>T
NM_001130438.3(SPTAN1):c.5478+20G>A
NM_001130438.3(SPTAN1):c.5479-16C>T
NM_001130438.3(SPTAN1):c.5479-5G>A rs1554763238
NM_001130438.3(SPTAN1):c.5496C>G (p.Gly1832=) rs1352540009
NM_001130438.3(SPTAN1):c.549T>C (p.His183=) rs1589179284
NM_001130438.3(SPTAN1):c.5529A>G (p.Lys1843=) rs776079416
NM_001130438.3(SPTAN1):c.5568C>T (p.His1856=) rs1857396464
NM_001130438.3(SPTAN1):c.5592A>C (p.Ala1864=) rs1857398448
NM_001130438.3(SPTAN1):c.5592A>G (p.Ala1864=)
NM_001130438.3(SPTAN1):c.5600+15G>T rs2131800720
NM_001130438.3(SPTAN1):c.5601-16T>C
NM_001130438.3(SPTAN1):c.5601-20T>C
NM_001130438.3(SPTAN1):c.5608C>T (p.Arg1870Trp) rs1423165476
NM_001130438.3(SPTAN1):c.5619G>A (p.Glu1873=)
NM_001130438.3(SPTAN1):c.5628A>G (p.Glu1876=) rs1589358990
NM_001130438.3(SPTAN1):c.5649T>C (p.Asn1883=) rs1057522205
NM_001130438.3(SPTAN1):c.5658G>A (p.Glu1886=)
NM_001130438.3(SPTAN1):c.5676T>C (p.Asn1892=) rs2131817623
NM_001130438.3(SPTAN1):c.5694G>A (p.Val1898=) rs867428978
NM_001130438.3(SPTAN1):c.5706T>C (p.Asp1902=) rs2131818082
NM_001130438.3(SPTAN1):c.570A>G (p.Lys190=)
NM_001130438.3(SPTAN1):c.5724C>A (p.Ala1908=) rs886063507
NM_001130438.3(SPTAN1):c.5733+18G>A
NM_001130438.3(SPTAN1):c.5734-4C>G rs2131850841
NM_001130438.3(SPTAN1):c.5734-9C>G rs779869876
NM_001130438.3(SPTAN1):c.5734-9C>T
NM_001130438.3(SPTAN1):c.5748A>G (p.Lys1916=)
NM_001130438.3(SPTAN1):c.5789G>A (p.Arg1930His) rs771921943
NM_001130438.3(SPTAN1):c.5814A>G (p.Gly1938=)
NM_001130438.3(SPTAN1):c.5823C>T (p.Leu1941=)
NM_001130438.3(SPTAN1):c.5832+15T>C
NM_001130438.3(SPTAN1):c.5832+8C>T
NM_001130438.3(SPTAN1):c.5833-11C>G
NM_001130438.3(SPTAN1):c.5833-15C>G
NM_001130438.3(SPTAN1):c.5833-17C>T
NM_001130438.3(SPTAN1):c.5833-19G>T
NM_001130438.3(SPTAN1):c.5833-4C>T
NM_001130438.3(SPTAN1):c.5833-6G>A
NM_001130438.3(SPTAN1):c.5833-9A>G
NM_001130438.3(SPTAN1):c.5883G>A (p.Gly1961=) rs1367701362
NM_001130438.3(SPTAN1):c.588A>C (p.Thr196=) rs776782747
NM_001130438.3(SPTAN1):c.5895C>T (p.Asp1965=) rs1471583021
NM_001130438.3(SPTAN1):c.5898G>C (p.Leu1966=)
NM_001130438.3(SPTAN1):c.5904A>G (p.Lys1968=) rs778709187
NM_001130438.3(SPTAN1):c.591T>C (p.Asp197=) rs2130976410
NM_001130438.3(SPTAN1):c.5928G>A (p.Lys1976=)
NM_001130438.3(SPTAN1):c.5970G>A (p.Ala1990=)
NM_001130438.3(SPTAN1):c.5993-10C>G rs773841663
NM_001130438.3(SPTAN1):c.5993-10del
NM_001130438.3(SPTAN1):c.5993-12T>C
NM_001130438.3(SPTAN1):c.5993-5T>C
NM_001130438.3(SPTAN1):c.6030C>T (p.Gly2010=)
NM_001130438.3(SPTAN1):c.6048G>A (p.Val2016=) rs557306645
NM_001130438.3(SPTAN1):c.6066A>G (p.Lys2022=)
NM_001130438.3(SPTAN1):c.6069+10G>A
NM_001130438.3(SPTAN1):c.6069+15C>T
NM_001130438.3(SPTAN1):c.6069+7C>T rs1554766358
NM_001130438.3(SPTAN1):c.6070-12C>T rs771489152
NM_001130438.3(SPTAN1):c.6070-17T>C
NM_001130438.3(SPTAN1):c.6070-6G>A rs1858640761
NM_001130438.3(SPTAN1):c.6075T>C (p.Thr2025=)
NM_001130438.3(SPTAN1):c.6077T>C (p.Phe2026Ser) rs1485892769
NM_001130438.3(SPTAN1):c.6084T>C (p.Ala2028=)
NM_001130438.3(SPTAN1):c.6120C>T (p.Asn2040=) rs2131952739
NM_001130438.3(SPTAN1):c.6138T>C (p.Asp2046=)
NM_001130438.3(SPTAN1):c.615T>G (p.Val205=)
NM_001130438.3(SPTAN1):c.6177C>T (p.Ile2059=)
NM_001130438.3(SPTAN1):c.6189C>T (p.His2063=) rs367629442
NM_001130438.3(SPTAN1):c.6192C>G (p.Ala2064=)
NM_001130438.3(SPTAN1):c.6198C>T (p.Leu2066=) rs138305416
NM_001130438.3(SPTAN1):c.6220C>T (p.Leu2074=)
NM_001130438.3(SPTAN1):c.6225C>T (p.Ala2075=) rs2131954813
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys) rs1564315398
NM_001130438.3(SPTAN1):c.6258G>A (p.Glu2086=)
NM_001130438.3(SPTAN1):c.6279+12G>A
NM_001130438.3(SPTAN1):c.6279+16C>T rs555451095
NM_001130438.3(SPTAN1):c.6279+17G>A rs1233546957
NM_001130438.3(SPTAN1):c.6279+17G>C
NM_001130438.3(SPTAN1):c.6279+17G>T
NM_001130438.3(SPTAN1):c.627C>T (p.Asn209=)
NM_001130438.3(SPTAN1):c.6294C>T (p.Phe2098=)
NM_001130438.3(SPTAN1):c.6327C>T (p.Asn2109=) rs1432749648
NM_001130438.3(SPTAN1):c.6345A>G (p.Ala2115=) rs1858761394
NM_001130438.3(SPTAN1):c.6366C>T (p.Pro2122=) rs775566979
NM_001130438.3(SPTAN1):c.6447G>A (p.Gln2149=)
NM_001130438.3(SPTAN1):c.6465G>C (p.Leu2155=)
NM_001130438.3(SPTAN1):c.6468C>G (p.Ala2156=)
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6501A>G (p.Val2167=) rs867703193
NM_001130438.3(SPTAN1):c.6507C>G (p.Ser2169=)
NM_001130438.3(SPTAN1):c.6507C>T (p.Ser2169=)
NM_001130438.3(SPTAN1):c.651+11A>G
NM_001130438.3(SPTAN1):c.651+16C>T
NM_001130438.3(SPTAN1):c.651+18G>A rs1419393335
NM_001130438.3(SPTAN1):c.651+20A>G
NM_001130438.3(SPTAN1):c.6516C>T (p.Tyr2172=)
NM_001130438.3(SPTAN1):c.652-9C>A
NM_001130438.3(SPTAN1):c.6528C>A (p.Thr2176=)
NM_001130438.3(SPTAN1):c.6546G>A (p.Glu2182=) rs1239717990
NM_001130438.3(SPTAN1):c.654G>A (p.Glu218=)
NM_001130438.3(SPTAN1):c.6561A>T (p.Leu2187=) rs1482545101
NM_001130438.3(SPTAN1):c.6576+16C>A rs745494941
NM_001130438.3(SPTAN1):c.6576+16C>T
NM_001130438.3(SPTAN1):c.6576+18C>T
NM_001130438.3(SPTAN1):c.6576+7C>G rs765667007
NM_001130438.3(SPTAN1):c.6577-14C>A rs540922784
NM_001130438.3(SPTAN1):c.6577-14C>G rs540922784
NM_001130438.3(SPTAN1):c.6577-17C>T
NM_001130438.3(SPTAN1):c.6577-6C>T
NM_001130438.3(SPTAN1):c.6577-9G>C
NM_001130438.3(SPTAN1):c.6607C>A (p.Arg2203=) rs759842941
NM_001130438.3(SPTAN1):c.6609G>A (p.Arg2203=) rs1300415391
NM_001130438.3(SPTAN1):c.6624C>T (p.Asn2208=)
NM_001130438.3(SPTAN1):c.6689+11G>A
NM_001130438.3(SPTAN1):c.6690-14T>C rs2131994892
NM_001130438.3(SPTAN1):c.6690-4A>G rs1465836894
NM_001130438.3(SPTAN1):c.6690-7T>G rs868686679
NM_001130438.3(SPTAN1):c.6693A>C (p.Thr2231=)
NM_001130438.3(SPTAN1):c.6707+10G>T
NM_001130438.3(SPTAN1):c.6707+12T>C
NM_001130438.3(SPTAN1):c.6707+9T>C rs2131995556
NM_001130438.3(SPTAN1):c.6708-11T>C
NM_001130438.3(SPTAN1):c.6708-13C>A
NM_001130438.3(SPTAN1):c.6708-13C>T
NM_001130438.3(SPTAN1):c.6708-19A>G rs771695175
NM_001130438.3(SPTAN1):c.6744C>T (p.Ser2248=) rs1173450745
NM_001130438.3(SPTAN1):c.6756T>G (p.Ala2252=)
NM_001130438.3(SPTAN1):c.6762+10C>A rs367706466
NM_001130438.3(SPTAN1):c.6762+16G>A
NM_001130438.3(SPTAN1):c.6762+16_6762+22del
NM_001130438.3(SPTAN1):c.6762+8C>G rs2132047025
NM_001130438.3(SPTAN1):c.6763-10A>G
NM_001130438.3(SPTAN1):c.6763-11C>A rs1356782148
NM_001130438.3(SPTAN1):c.6763-16C>T
NM_001130438.3(SPTAN1):c.6763-4G>C
NM_001130438.3(SPTAN1):c.6763-6C>G rs543227930
NM_001130438.3(SPTAN1):c.6777A>C (p.Glu2259Asp) rs1859855635
NM_001130438.3(SPTAN1):c.6867G>A (p.Glu2289=)
NM_001130438.3(SPTAN1):c.6873C>T (p.Ser2291=)
NM_001130438.3(SPTAN1):c.6882C>G (p.Gly2294=)
NM_001130438.3(SPTAN1):c.6882C>T (p.Gly2294=) rs1859868464
NM_001130438.3(SPTAN1):c.6888C>T (p.Ala2296=)
NM_001130438.3(SPTAN1):c.6903G>A (p.Gln2301=)
NM_001130438.3(SPTAN1):c.6948G>A (p.Gln2316=)
NM_001130438.3(SPTAN1):c.6959+11G>A rs2132091181
NM_001130438.3(SPTAN1):c.6959+12G>A
NM_001130438.3(SPTAN1):c.6959+16G>A
NM_001130438.3(SPTAN1):c.6959+17T>C
NM_001130438.3(SPTAN1):c.6959+18G>C
NM_001130438.3(SPTAN1):c.6959+7G>T rs373990901
NM_001130438.3(SPTAN1):c.6959+8G>A
NM_001130438.3(SPTAN1):c.6960-12T>G
NM_001130438.3(SPTAN1):c.6960-15C>A rs1388078458
NM_001130438.3(SPTAN1):c.6966A>G (p.Thr2322=)
NM_001130438.3(SPTAN1):c.6972T>C (p.Gly2324=) rs2132094715
NM_001130438.3(SPTAN1):c.6975G>A (p.Val2325=)
NM_001130438.3(SPTAN1):c.6975G>C (p.Val2325=)
NM_001130438.3(SPTAN1):c.69A>T (p.Leu23=)
NM_001130438.3(SPTAN1):c.6C>T (p.Asp2=)
NM_001130438.3(SPTAN1):c.7013+11C>A rs769831605
NM_001130438.3(SPTAN1):c.7013+13T>C
NM_001130438.3(SPTAN1):c.7013+14T>C
NM_001130438.3(SPTAN1):c.7013+16C>A
NM_001130438.3(SPTAN1):c.7013+20C>T
NM_001130438.3(SPTAN1):c.7013+9A>G
NM_001130438.3(SPTAN1):c.7014-15G>A rs201100247
NM_001130438.3(SPTAN1):c.7014-15G>C
NM_001130438.3(SPTAN1):c.7014-5T>G
NM_001130438.3(SPTAN1):c.7020T>C (p.Phe2340=)
NM_001130438.3(SPTAN1):c.7035T>C (p.Ser2345=) rs2132099422
NM_001130438.3(SPTAN1):c.7044G>A (p.Leu2348=)
NM_001130438.3(SPTAN1):c.7074C>A (p.Arg2358=) rs771456936
NM_001130438.3(SPTAN1):c.708C>G (p.Ala236=) rs1004400579
NM_001130438.3(SPTAN1):c.7101G>A (p.Val2367=)
NM_001130438.3(SPTAN1):c.7131G>A (p.Glu2377=) rs1177783409
NM_001130438.3(SPTAN1):c.7135A>C (p.Ile2379Leu) rs770358940
NM_001130438.3(SPTAN1):c.7149G>A (p.Val2383=)
NM_001130438.3(SPTAN1):c.7160+10T>C rs1859976612
NM_001130438.3(SPTAN1):c.7160+11T>C
NM_001130438.3(SPTAN1):c.7160+12A>T rs2132102746
NM_001130438.3(SPTAN1):c.7160+5_7160+9dup rs747442396
NM_001130438.3(SPTAN1):c.7160+9A>G rs748642362
NM_001130438.3(SPTAN1):c.7161-18dup
NM_001130438.3(SPTAN1):c.7161-6T>G
NM_001130438.3(SPTAN1):c.7161-7C>T rs908872634
NM_001130438.3(SPTAN1):c.7161-8G>T
NM_001130438.3(SPTAN1):c.7198A>G (p.Met2400Val) rs1339856488
NM_001130438.3(SPTAN1):c.7221C>T (p.Asn2407=)
NM_001130438.3(SPTAN1):c.7224C>G (p.Val2408=) rs771262997
NM_001130438.3(SPTAN1):c.7242T>C (p.Ile2414=) rs2132106786
NM_001130438.3(SPTAN1):c.726C>T (p.Gly242=)
NM_001130438.3(SPTAN1):c.7287G>T (p.Val2429=)
NM_001130438.3(SPTAN1):c.7293G>A (p.Lys2431=)
NM_001130438.3(SPTAN1):c.7308+18T>C
NM_001130438.3(SPTAN1):c.7308+9del rs1191675267
NM_001130438.3(SPTAN1):c.7309-14C>G rs1589422584
NM_001130438.3(SPTAN1):c.7309-15TC[4] rs770948927
NM_001130438.3(SPTAN1):c.7309-6C>T rs1191417693
NM_001130438.3(SPTAN1):c.7309-8C>A
NM_001130438.3(SPTAN1):c.7314G>A (p.Leu2438=) rs2132117488
NM_001130438.3(SPTAN1):c.7334A>G (p.Tyr2445Cys) rs1364724669
NM_001130438.3(SPTAN1):c.733C>T (p.Leu245=)
NM_001130438.3(SPTAN1):c.7357T>C (p.Tyr2453His) rs1589423064
NM_001130438.3(SPTAN1):c.7386C>T (p.Pro2462=)
NM_001130438.3(SPTAN1):c.7396G>C (p.Asp2466His) rs367776636
NM_001130438.3(SPTAN1):c.7398C>T (p.Asp2466=)
NM_001130438.3(SPTAN1):c.7407G>A (p.Glu2469=)
NM_001130438.3(SPTAN1):c.7419G>T (p.Ser2473=) rs375649697
NM_001130438.3(SPTAN1):c.741G>A (p.Arg247=)
NM_001130438.3(SPTAN1):c.783C>T (p.Asn261=) rs1265434463
NM_001130438.3(SPTAN1):c.785+19C>A
NM_001130438.3(SPTAN1):c.785+8G>A
NM_001130438.3(SPTAN1):c.785+9C>T
NM_001130438.3(SPTAN1):c.786-11T>G rs1244125212
NM_001130438.3(SPTAN1):c.786-4G>A
NM_001130438.3(SPTAN1):c.801T>C (p.Thr267=)
NM_001130438.3(SPTAN1):c.82C>T (p.Arg28Cys) rs1850092105
NM_001130438.3(SPTAN1):c.837C>T (p.Ala279=) rs200243332
NM_001130438.3(SPTAN1):c.846T>C (p.Asp282=)
NM_001130438.3(SPTAN1):c.852C>T (p.Gly284=) rs1454898745
NM_001130438.3(SPTAN1):c.882T>C (p.Leu294=) rs2131012378
NM_001130438.3(SPTAN1):c.885G>A (p.Arg295=)
NM_001130438.3(SPTAN1):c.89A>G (p.Lys30Arg) rs1554735509
NM_001130438.3(SPTAN1):c.906A>G (p.Arg302=) rs1554741933
NM_001130438.3(SPTAN1):c.915T>A (p.Ala305=) rs1589188817
NM_001130438.3(SPTAN1):c.930+10A>C
NM_001130438.3(SPTAN1):c.930+11C>T
NM_001130438.3(SPTAN1):c.930+20G>A
NM_001130438.3(SPTAN1):c.931-15G>A
NM_001130438.3(SPTAN1):c.939C>G (p.Ala313=)
NM_001130438.3(SPTAN1):c.939C>T (p.Ala313=) rs2131014238
NM_001130438.3(SPTAN1):c.961C>T (p.Leu321=) rs1589189237
NM_001130438.3(SPTAN1):c.96C>G (p.Leu32=) rs1589149611
NM_001130438.3(SPTAN1):c.96C>T (p.Leu32=) rs1589149611
NM_001130438.3(SPTAN1):c.996T>C (p.Ile332=) rs2131015101

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