ClinVar Miner

List of variants in gene SPTAN1 studied for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2138
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.5085A>G (p.Leu1695=) rs1415568 0.98480
NM_001130438.3(SPTAN1):c.2163A>C (p.Ala721=) rs10760566 0.96940
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=) rs2227864 0.74835
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=) rs2227862 0.72171
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) rs945831 0.03378
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=) rs34084388 0.03062
NM_001130438.3(SPTAN1):c.2163= (p.Ala721=) rs10760566 0.03060
NM_001130438.3(SPTAN1):c.1221+11C>T rs113357847 0.02463
NM_001130438.3(SPTAN1):c.7389C>T (p.Thr2463=) rs2228952 0.02352
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865 0.02288
NM_001130438.3(SPTAN1):c.6708-7C>T rs16930539 0.01980
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333 0.01558
NM_001130438.3(SPTAN1):c.5085= (p.Leu1695=) rs1415568 0.01520
NM_001130438.3(SPTAN1):c.2194-13T>G rs28676915 0.00932
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345 0.00816
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915 0.00645
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_001130438.3(SPTAN1):c.1710C>T (p.Ala570=) rs115428827 0.00551
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951 0.00509
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276 0.00436
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=) rs114745823 0.00429
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.931-16C>T rs149289060 0.00285
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094 0.00257
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001130438.3(SPTAN1):c.5358-16C>T rs143969764 0.00187
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.1807-11T>C rs139049596 0.00116
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.237+11T>G rs768283186 0.00088
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053 0.00078
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250 0.00073
NM_001130438.3(SPTAN1):c.930+17G>A rs117436936 0.00069
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.2778+20G>A rs201463905 0.00066
NM_001130438.3(SPTAN1):c.5790C>T (p.Arg1930=) rs144435438 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.786-17G>T rs367832791 0.00056
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.5523C>T (p.Ile1841=) rs79569204 0.00039
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001130438.3(SPTAN1):c.5415G>A (p.Gln1805=) rs142964132 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.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.4595+4G>T rs185925523 0.00026
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.3849G>A (p.Ala1283=) rs117614529 0.00022
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.7396G>A (p.Asp2466Asn) rs367776636 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.4146+19_4146+20insA rs554731574 0.00016
NM_001130438.3(SPTAN1):c.4146+20G>C rs560213432 0.00016
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.2344G>A (p.Asp782Asn) rs199720383 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.413T>C (p.Met138Thr) rs767527240 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.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.7366G>A (p.Gly2456Ser) rs199866550 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.1916T>C (p.Ile639Thr) rs1427892796 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.6576+12G>A rs144725581 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.4243G>C (p.Glu1415Gln) rs745697305 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.1154A>G (p.Asn385Ser) rs2227863 0.00009
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.4905+20G>A rs200959763 0.00009
NM_001130438.3(SPTAN1):c.5833-10C>T rs1389531374 0.00009
NM_001130438.3(SPTAN1):c.6190G>A (p.Ala2064Thr) rs201411901 0.00009
NM_001130438.3(SPTAN1):c.6405C>T (p.Arg2135=) rs767640999 0.00009
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764 0.00009
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=) rs372825476 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.7402G>A (p.Val2468Met) rs754362594 0.00009
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437 0.00008
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.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.5949C>T (p.Phe1983=) rs762358113 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.237+4C>T rs371350283 0.00007
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys) rs920545433 0.00007
NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln) rs560719289 0.00007
NM_001130438.3(SPTAN1):c.6826G>A (p.Ala2276Thr) rs375244907 0.00007
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.2422G>A (p.Ala808Thr) rs766491965 0.00006
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met) rs375623472 0.00006
NM_001130438.3(SPTAN1):c.3007-16C>A rs377381640 0.00006
NM_001130438.3(SPTAN1):c.4046G>A (p.Arg1349Gln) rs149367932 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.5545C>T (p.Arg1849Trp) rs148402616 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.5881G>A (p.Gly1961Arg) rs142498180 0.00006
NM_001130438.3(SPTAN1):c.6195C>T (p.Ser2065=) rs760243298 0.00006
NM_001130438.3(SPTAN1):c.6689+17G>A rs143675512 0.00006
NM_001130438.3(SPTAN1):c.6709T>A (p.Ser2237Thr) rs770532796 0.00006
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr) rs145054594 0.00006
NM_001130438.3(SPTAN1):c.1645G>A (p.Asp549Asn) rs868661967 0.00005
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.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.7390G>A (p.Ala2464Thr) rs544843583 0.00005
NM_001130438.3(SPTAN1):c.943T>C (p.Cys315Arg) rs776064912 0.00005
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.1536T>C (p.Phe512=) rs762887917 0.00004
NM_001130438.3(SPTAN1):c.1581T>A (p.Asp527Glu) rs971082831 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.2224C>T (p.Arg742Cys) rs780658554 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.3779A>G (p.Asn1260Ser) rs552623597 0.00004
NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp) rs771862017 0.00004
NM_001130438.3(SPTAN1):c.4046+4C>T rs370704701 0.00004
NM_001130438.3(SPTAN1):c.4309C>T (p.Arg1437Cys) rs373033857 0.00004
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His) rs752347538 0.00004
NM_001130438.3(SPTAN1):c.4345-16C>T rs549736000 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.5479-15G>A rs377449636 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.6496C>T (p.Arg2166Cys) rs775190610 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.7309-3C>A rs777355476 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.1247G>A (p.Ser416Asn) rs773663318 0.00003
NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser) rs768940761 0.00003
NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp) rs144590741 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.1936A>G (p.Lys646Glu) rs903037131 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.2287G>A (p.Val763Met) rs372062686 0.00003
NM_001130438.3(SPTAN1):c.2393C>T (p.Thr798Met) rs749263783 0.00003
NM_001130438.3(SPTAN1):c.2548A>C (p.Met850Leu) rs371776794 0.00003
NM_001130438.3(SPTAN1):c.2572G>T (p.Ala858Ser) rs1185428521 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.3156G>A (p.Gln1052=) rs749768274 0.00003
NM_001130438.3(SPTAN1):c.3216-19C>A rs368814792 0.00003
NM_001130438.3(SPTAN1):c.3248G>A (p.Arg1083His) rs369611161 0.00003
NM_001130438.3(SPTAN1):c.3448A>G (p.Ile1150Val) rs145516440 0.00003
NM_001130438.3(SPTAN1):c.363+18G>A rs376019489 0.00003
NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr) rs776648566 0.00003
NM_001130438.3(SPTAN1):c.4028G>A (p.Arg1343His) rs539724071 0.00003
NM_001130438.3(SPTAN1):c.4261G>T (p.Asp1421Tyr) rs749333383 0.00003
NM_001130438.3(SPTAN1):c.4351C>G (p.His1451Asp) rs772533230 0.00003
NM_001130438.3(SPTAN1):c.4479G>A (p.Ala1493=) rs201716851 0.00003
NM_001130438.3(SPTAN1):c.4491+6G>A rs748113883 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.497A>G (p.Asn166Ser) rs139943747 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.5239A>G (p.Ile1747Val) rs780622472 0.00003
NM_001130438.3(SPTAN1):c.5308C>T (p.Arg1770Cys) rs371055930 0.00003
NM_001130438.3(SPTAN1):c.5340C>T (p.Asp1780=) rs549528366 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.6280-5T>A rs746651127 0.00003
NM_001130438.3(SPTAN1):c.6497G>A (p.Arg2166His) rs200834733 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+4C>T rs902275859 0.00003
NM_001130438.3(SPTAN1):c.6959+6C>T rs542848685 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.7128C>T (p.Phe2376=) rs369792563 0.00003
NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile) rs1057520841 0.00003
NM_001130438.3(SPTAN1):c.7302C>T (p.Leu2434=) rs758405090 0.00003
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys) rs200531434 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.134G>A (p.Arg45Gln) rs760552878 0.00002
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.1550G>C (p.Ser517Thr) rs755356541 0.00002
NM_001130438.3(SPTAN1):c.1602T>G (p.Ile534Met) rs560390110 0.00002
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser) rs371178746 0.00002
NM_001130438.3(SPTAN1):c.1664G>A (p.Arg555His) rs139998823 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.1770T>G (p.Asn590Lys) rs781048881 0.00002
NM_001130438.3(SPTAN1):c.2108C>T (p.Ser703Leu) rs866425525 0.00002
NM_001130438.3(SPTAN1):c.2193+6G>C rs751573290 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.2696C>G (p.Ala899Gly) rs745746027 0.00002
NM_001130438.3(SPTAN1):c.2720G>T (p.Arg907Leu) rs780303413 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.3641G>A (p.Arg1214His) rs780184944 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.4027C>T (p.Arg1343Cys) rs138827421 0.00002
NM_001130438.3(SPTAN1):c.4076G>A (p.Arg1359Gln) rs1176851202 0.00002
NM_001130438.3(SPTAN1):c.4265T>C (p.Ile1422Thr) rs140159000 0.00002
NM_001130438.3(SPTAN1):c.4279C>T (p.Arg1427Cys) rs774559979 0.00002
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His) rs762216368 0.00002
NM_001130438.3(SPTAN1):c.4524C>T (p.Ala1508=) rs371100708 0.00002
NM_001130438.3(SPTAN1):c.4525G>A (p.Asp1509Asn) rs757714696 0.00002
NM_001130438.3(SPTAN1):c.4564A>G (p.Ile1522Val) rs764323424 0.00002
NM_001130438.3(SPTAN1):c.4725T>C (p.Ser1575=) rs753055605 0.00002
NM_001130438.3(SPTAN1):c.4758+3A>C rs774108521 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.4822G>A (p.Ala1608Thr) rs775707176 0.00002
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg) rs757109566 0.00002
NM_001130438.3(SPTAN1):c.504+4C>T rs755742062 0.00002
NM_001130438.3(SPTAN1):c.5044-16G>C rs747282086 0.00002
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val) rs771906889 0.00002
NM_001130438.3(SPTAN1):c.5139T>C (p.Ser1713=) rs755166792 0.00002
NM_001130438.3(SPTAN1):c.5269A>G (p.Met1757Val) rs141483578 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.5377G>A (p.Gly1793Ser) rs780658978 0.00002
NM_001130438.3(SPTAN1):c.5392G>A (p.Gly1798Ser) rs756006714 0.00002
NM_001130438.3(SPTAN1):c.5468C>T (p.Pro1823Leu) rs561973288 0.00002
NM_001130438.3(SPTAN1):c.5601-6_5601-5del rs781645028 0.00002
NM_001130438.3(SPTAN1):c.5685G>A (p.Met1895Ile) rs973076703 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.6053C>T (p.Thr2018Met) rs904934847 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.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.6503C>T (p.Ala2168Val) rs767399516 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.7129G>A (p.Glu2377Lys) rs757162652 0.00002
NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys) rs1336849921 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.1007G>A (p.Arg336Gln) rs796930106 0.00001
NM_001130438.3(SPTAN1):c.1039C>T (p.Arg347Cys) rs754066930 0.00001
NM_001130438.3(SPTAN1):c.1049C>T (p.Ala350Val) rs765337732 0.00001
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.1258G>A (p.Ala420Thr) rs142410041 0.00001
NM_001130438.3(SPTAN1):c.1286C>T (p.Ala429Val) rs368876195 0.00001
NM_001130438.3(SPTAN1):c.129C>T (p.Ser43=) rs1442175070 0.00001
NM_001130438.3(SPTAN1):c.1306G>A (p.Asp436Asn) rs929796374 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.1375C>T (p.Arg459Cys) rs772281075 0.00001
NM_001130438.3(SPTAN1):c.1376G>A (p.Arg459His) rs201948749 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.1462G>A (p.Ala488Thr) rs972504988 0.00001
NM_001130438.3(SPTAN1):c.1495T>C (p.Leu499=) rs748615499 0.00001
NM_001130438.3(SPTAN1):c.1534T>G (p.Phe512Val) rs147444364 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.1621A>G (p.Met541Val) rs796053315 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.1684G>T (p.Ala562Ser) rs773328719 0.00001
NM_001130438.3(SPTAN1):c.1687A>G (p.Met563Val) rs1344488286 0.00001
NM_001130438.3(SPTAN1):c.1690C>T (p.Arg564Cys) rs759822213 0.00001
NM_001130438.3(SPTAN1):c.1691G>A (p.Arg564His) rs201168391 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.1701C>T (p.Ala567=) rs1391943816 0.00001
NM_001130438.3(SPTAN1):c.1765G>A (p.Val589Ile) rs746961427 0.00001
NM_001130438.3(SPTAN1):c.1772A>C (p.Glu591Ala) rs1182873506 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.1824A>G (p.Gln608=) rs1057523726 0.00001
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr) rs1564224960 0.00001
NM_001130438.3(SPTAN1):c.1953T>C (p.Ala651=) rs376957536 0.00001
NM_001130438.3(SPTAN1):c.1955G>A (p.Arg652His) rs370062384 0.00001
NM_001130438.3(SPTAN1):c.201A>T (p.Ala67=) rs765540595 0.00001
NM_001130438.3(SPTAN1):c.2024G>A (p.Arg675His) rs748338558 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.2158C>T (p.His720Tyr) rs191761167 0.00001
NM_001130438.3(SPTAN1):c.2159A>G (p.His720Arg) rs759274173 0.00001
NM_001130438.3(SPTAN1):c.2171A>G (p.Glu724Gly) rs374506067 0.00001
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His) rs146412583 0.00001
NM_001130438.3(SPTAN1):c.2282C>A (p.Ala761Asp) rs770359554 0.00001
NM_001130438.3(SPTAN1):c.2286C>T (p.Leu762=) rs745436802 0.00001
NM_001130438.3(SPTAN1):c.2326C>T (p.Arg776Trp) rs148258493 0.00001
NM_001130438.3(SPTAN1):c.2354G>A (p.Arg785Gln) rs780875433 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.2395T>C (p.Trp799Arg) rs1852325939 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.2450T>C (p.Ile817Thr) rs1060503490 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.2557G>A (p.Glu853Lys) rs771925044 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.2617G>A (p.Glu873Lys) rs776279771 0.00001
NM_001130438.3(SPTAN1):c.2644C>T (p.Arg882Cys) rs149528201 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.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.2838C>G (p.Ile946Met) rs943636575 0.00001
NM_001130438.3(SPTAN1):c.285C>T (p.Asn95=) rs533717545 0.00001
NM_001130438.3(SPTAN1):c.2869C>T (p.Arg957Trp) rs781689993 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.3050C>T (p.Pro1017Leu) rs370748662 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.3083A>G (p.Gln1028Arg) rs768500975 0.00001
NM_001130438.3(SPTAN1):c.3090C>T (p.Ala1030=) rs1314188538 0.00001
NM_001130438.3(SPTAN1):c.3101A>G (p.Asn1034Ser) rs773333330 0.00001
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) rs794727356 0.00001
NM_001130438.3(SPTAN1):c.3155+17G>A rs765814431 0.00001
NM_001130438.3(SPTAN1):c.3155A>G (p.Gln1052Arg) rs1362381770 0.00001
NM_001130438.3(SPTAN1):c.3156-11C>G rs781434997 0.00001
NM_001130438.3(SPTAN1):c.3160C>T (p.Arg1054Cys) rs200872929 0.00001
NM_001130438.3(SPTAN1):c.3161G>A (p.Arg1054His) rs561564501 0.00001
NM_001130438.3(SPTAN1):c.3181A>G (p.Ser1061Gly) rs1369204255 0.00001
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys) rs587784436 0.00001
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His) rs199561983 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.3337G>A (p.Ala1113Thr) rs143309753 0.00001
NM_001130438.3(SPTAN1):c.3357C>T (p.Val1119=) rs1279884865 0.00001
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg) rs748698544 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.3466G>C (p.Asp1156His) rs1854608331 0.00001
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val) rs1060503492 0.00001
NM_001130438.3(SPTAN1):c.3519+5G>T rs915019884 0.00001
NM_001130438.3(SPTAN1):c.3536T>A (p.Met1179Lys) rs564155435 0.00001
NM_001130438.3(SPTAN1):c.353A>C (p.Glu118Ala) rs1360328239 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.3561G>T (p.Lys1187Asn) rs950316530 0.00001
NM_001130438.3(SPTAN1):c.356C>T (p.Thr119Ile) rs1850338993 0.00001
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004 0.00001
NM_001130438.3(SPTAN1):c.3587G>C (p.Arg1196Pro) rs781124530 0.00001
NM_001130438.3(SPTAN1):c.3599A>G (p.His1200Arg) rs745798632 0.00001
NM_001130438.3(SPTAN1):c.3604G>A (p.Val1202Met) rs1312920158 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.362G>T (p.Arg121Leu) rs942861981 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.3640C>T (p.Arg1214Cys) rs756099218 0.00001
NM_001130438.3(SPTAN1):c.3667G>A (p.Glu1223Lys) rs773140619 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.3762A>G (p.Gln1254=) rs533042543 0.00001
NM_001130438.3(SPTAN1):c.3785G>A (p.Gly1262Glu) rs901228960 0.00001
NM_001130438.3(SPTAN1):c.3786A>G (p.Gly1262=) rs199902257 0.00001
NM_001130438.3(SPTAN1):c.3788A>G (p.His1263Arg) rs1322144803 0.00001
NM_001130438.3(SPTAN1):c.3801T>C (p.Ser1267=) rs751784689 0.00001
NM_001130438.3(SPTAN1):c.380T>A (p.Leu127Gln) rs768538310 0.00001
NM_001130438.3(SPTAN1):c.3816A>G (p.Gln1272=) rs745997127 0.00001
NM_001130438.3(SPTAN1):c.3856G>A (p.Gly1286Ser) rs769081903 0.00001
NM_001130438.3(SPTAN1):c.385C>T (p.Arg129Cys) rs964919191 0.00001
NM_001130438.3(SPTAN1):c.3865-7C>T rs1248978165 0.00001
NM_001130438.3(SPTAN1):c.386G>A (p.Arg129His) rs774397953 0.00001
NM_001130438.3(SPTAN1):c.3948G>A (p.Glu1316=) rs1278108281 0.00001
NM_001130438.3(SPTAN1):c.3965G>A (p.Ser1322Asn) rs756084170 0.00001
NM_001130438.3(SPTAN1):c.4008T>C (p.Gly1336=) rs780641212 0.00001
NM_001130438.3(SPTAN1):c.4027C>A (p.Arg1343Ser) rs138827421 0.00001
NM_001130438.3(SPTAN1):c.4038C>T (p.Ser1346=) rs768542176 0.00001
NM_001130438.3(SPTAN1):c.4058C>G (p.Ser1353Cys) rs1564278853 0.00001
NM_001130438.3(SPTAN1):c.4129T>C (p.Leu1377=) rs1220521892 0.00001
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710 0.00001
NM_001130438.3(SPTAN1):c.4154G>A (p.Arg1385Gln) rs961027509 0.00001
NM_001130438.3(SPTAN1):c.4164C>T (p.Ile1388=) rs759713935 0.00001
NM_001130438.3(SPTAN1):c.416G>A (p.Arg139Gln) rs773288631 0.00001
NM_001130438.3(SPTAN1):c.4174G>A (p.Ala1392Thr) rs972500325 0.00001
NM_001130438.3(SPTAN1):c.4225G>A (p.Gly1409Arg) rs746913959 0.00001
NM_001130438.3(SPTAN1):c.433C>G (p.Leu145Val) rs754419719 0.00001
NM_001130438.3(SPTAN1):c.4344G>A (p.Gln1448=) rs1357221237 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.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.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.4672C>T (p.Arg1558Trp) rs750465466 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.4915G>A (p.Ala1639Thr) rs371679323 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.5039C>G (p.Ser1680Cys) rs1251494639 0.00001
NM_001130438.3(SPTAN1):c.504+5G>A rs377258326 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.5159A>G (p.Lys1720Arg) rs1451766321 0.00001
NM_001130438.3(SPTAN1):c.5224G>A (p.Asp1742Asn) rs750748842 0.00001
NM_001130438.3(SPTAN1):c.5243A>G (p.Asn1748Ser) rs1435643999 0.00001
NM_001130438.3(SPTAN1):c.5244C>T (p.Asn1748=) rs747794736 0.00001
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198 0.00001
NM_001130438.3(SPTAN1):c.5263A>C (p.Lys1755Gln) rs1857087048 0.00001
NM_001130438.3(SPTAN1):c.5276C>T (p.Ala1759Val) rs368402085 0.00001
NM_001130438.3(SPTAN1):c.5280C>G (p.Ser1760=) rs1857089934 0.00001
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp) rs764247109 0.00001
NM_001130438.3(SPTAN1):c.5309G>A (p.Arg1770His) rs374625039 0.00001
NM_001130438.3(SPTAN1):c.5361G>A (p.Glu1787=) rs756977702 0.00001
NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln) rs772382171 0.00001
NM_001130438.3(SPTAN1):c.5479G>A (p.Gly1827Ser) rs1287628912 0.00001
NM_001130438.3(SPTAN1):c.5508C>T (p.Ser1836=) rs777780283 0.00001
NM_001130438.3(SPTAN1):c.5521A>G (p.Ile1841Val) rs781083220 0.00001
NM_001130438.3(SPTAN1):c.5524G>A (p.Gly1842Arg) rs770133448 0.00001
NM_001130438.3(SPTAN1):c.5544G>A (p.Gln1848=) rs572958583 0.00001
NM_001130438.3(SPTAN1):c.5546G>A (p.Arg1849Gln) rs760298084 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.5672T>C (p.Ile1891Thr) rs961696023 0.00001
NM_001130438.3(SPTAN1):c.5675A>G (p.Asn1892Ser) rs1425744048 0.00001
NM_001130438.3(SPTAN1):c.5688C>G (p.Thr1896=) rs749391487 0.00001
NM_001130438.3(SPTAN1):c.5712C>T (p.Gly1904=) rs150960451 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.5791G>A (p.Val1931Met) rs371687713 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.586A>G (p.Thr196Ala) rs940919276 0.00001
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=) rs372782253 0.00001
NM_001130438.3(SPTAN1):c.5904A>T (p.Lys1968Asn) rs778709187 0.00001
NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn) rs777407223 0.00001
NM_001130438.3(SPTAN1):c.5929C>T (p.Leu1977=) rs745668882 0.00001
NM_001130438.3(SPTAN1):c.593T>C (p.Met198Thr) rs924110992 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.6014A>G (p.Lys2005Arg) rs754276364 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.6113T>C (p.Ile2038Thr) rs1227328885 0.00001
NM_001130438.3(SPTAN1):c.6117C>G (p.Ala2039=) rs1310120255 0.00001
NM_001130438.3(SPTAN1):c.6141G>T (p.Gln2047His) rs1244126171 0.00001
NM_001130438.3(SPTAN1):c.6147C>T (p.Leu2049=) rs778917848 0.00001
NM_001130438.3(SPTAN1):c.6148G>A (p.Ala2050Thr) rs762645157 0.00001
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120 0.00001
NM_001130438.3(SPTAN1):c.6160G>A (p.Val2054Ile) rs771286283 0.00001
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln) rs751423380 0.00001
NM_001130438.3(SPTAN1):c.6196C>T (p.Leu2066Phe) rs1286936741 0.00001
NM_001130438.3(SPTAN1):c.6208T>G (p.Trp2070Gly) rs766038302 0.00001
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg) rs754910706 0.00001
NM_001130438.3(SPTAN1):c.6228C>G (p.Asn2076Lys) rs752560514 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.6274C>T (p.Arg2092Cys) rs771651648 0.00001
NM_001130438.3(SPTAN1):c.6279+4A>T rs1274186786 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.6371G>A (p.Arg2124His) rs763928650 0.00001
NM_001130438.3(SPTAN1):c.6414C>T (p.His2138=) rs537595625 0.00001
NM_001130438.3(SPTAN1):c.6425G>A (p.Arg2142His) rs796053324 0.00001
NM_001130438.3(SPTAN1):c.6453C>T (p.Asp2151=) rs376208532 0.00001
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu) rs756290749 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.6728C>T (p.Ser2243Leu) rs769859369 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.6764G>A (p.Arg2255His) rs201693154 0.00001
NM_001130438.3(SPTAN1):c.6790A>C (p.Arg2264=) rs766550915 0.00001
NM_001130438.3(SPTAN1):c.6959+5C>G rs1057523269 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.7088A>G (p.Asp2363Gly) rs1256953654 0.00001
NM_001130438.3(SPTAN1):c.7114C>T (p.Pro2372Ser) rs1859963796 0.00001
NM_001130438.3(SPTAN1):c.713A>G (p.Gln238Arg) rs758342554 0.00001
NM_001130438.3(SPTAN1):c.7145C>T (p.Thr2382Met) rs796053331 0.00001
NM_001130438.3(SPTAN1):c.7148T>C (p.Val2383Ala) rs754183499 0.00001
NM_001130438.3(SPTAN1):c.715C>T (p.Arg239Trp) rs763806998 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.7207C>T (p.Arg2403Cys) rs1285764786 0.00001
NM_001130438.3(SPTAN1):c.7209C>T (p.Arg2403=) rs778129817 0.00001
NM_001130438.3(SPTAN1):c.7235A>T (p.Glu2412Val) rs768195496 0.00001
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln) rs772995493 0.00001
NM_001130438.3(SPTAN1):c.7275A>G (p.Gly2425=) rs1239084886 0.00001
NM_001130438.3(SPTAN1):c.7285G>A (p.Val2429Met) rs1344858192 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.7339G>A (p.Val2447Ile) rs764312862 0.00001
NM_001130438.3(SPTAN1):c.7343C>T (p.Ser2448Phe) rs1248425869 0.00001
NM_001130438.3(SPTAN1):c.7350G>A (p.Met2450Ile) rs761874094 0.00001
NM_001130438.3(SPTAN1):c.7354C>A (p.Pro2452Thr) rs767620941 0.00001
NM_001130438.3(SPTAN1):c.7375C>T (p.Arg2459Cys) rs1160694512 0.00001
NM_001130438.3(SPTAN1):c.7376G>A (p.Arg2459His) rs751323903 0.00001
NM_001130438.3(SPTAN1):c.7377C>T (p.Arg2459=) rs756798259 0.00001
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) rs759975874 0.00001
NM_001130438.3(SPTAN1):c.7415G>A (p.Arg2472His) rs375016371 0.00001
NM_001130438.3(SPTAN1):c.7426G>A (p.Val2476Met) rs199569281 0.00001
NM_001130438.3(SPTAN1):c.775C>T (p.Arg259Cys) rs151150353 0.00001
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His) rs772367229 0.00001
NM_001130438.3(SPTAN1):c.785+12G>C rs774982401 0.00001
NM_001130438.3(SPTAN1):c.785+5C>T rs776310053 0.00001
NM_001130438.3(SPTAN1):c.83G>A (p.Arg28His) rs747510615 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.958C>T (p.Arg320Cys) rs794727910 0.00001
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=) rs587784442 0.00001
NM_001130438.3(SPTAN1):c.988A>G (p.Thr330Ala) rs924198534 0.00001
NC_000009.11:g.(?_131353736)_(131356672_?)dup
NC_000009.11:g.(?_131360669)_(131367766_?)del
NC_000009.11:g.(?_131362339)_(131362414_?)del
NC_000009.11:g.(?_131382516)_(131393966_?)del
NC_000009.12:g.(?_128613381)_(128613485_?)del
NM_001130438.3(SPTAN1):c.1000G>A (p.Val334Met)
NM_001130438.3(SPTAN1):c.1008A>G (p.Arg336=)
NM_001130438.3(SPTAN1):c.1014A>G (p.Glu338=)
NM_001130438.3(SPTAN1):c.1035G>T (p.Gln345His) rs2131015592
NM_001130438.3(SPTAN1):c.1039C>G (p.Arg347Gly) rs754066930
NM_001130438.3(SPTAN1):c.1040G>T (p.Arg347Leu)
NM_001130438.3(SPTAN1):c.104T>G (p.Leu35Arg)
NM_001130438.3(SPTAN1):c.1050G>A (p.Ala350=) rs752710398
NM_001130438.3(SPTAN1):c.1063G>A (p.Ala355Thr)
NM_001130438.3(SPTAN1):c.1063G>T (p.Ala355Ser) rs988012905
NM_001130438.3(SPTAN1):c.1064C>T (p.Ala355Val) rs1851436689
NM_001130438.3(SPTAN1):c.1066C>T (p.Arg356Trp) rs370695453
NM_001130438.3(SPTAN1):c.1076A>G (p.Asp359Gly) rs748881611
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+3_1085+4delinsTT rs1851440097
NM_001130438.3(SPTAN1):c.1085+6A>C rs1060503488
NM_001130438.3(SPTAN1):c.1085+6A>G rs1060503488
NM_001130438.3(SPTAN1):c.1085+8T>G
NM_001130438.3(SPTAN1):c.1086-11G>C
NM_001130438.3(SPTAN1):c.1086-17_1086-14del rs768027782
NM_001130438.3(SPTAN1):c.1086-18_1086-17delinsAA rs1554742449
NM_001130438.3(SPTAN1):c.1086-2A>C rs2131028639
NM_001130438.3(SPTAN1):c.1086G>A (p.Arg362=)
NM_001130438.3(SPTAN1):c.1087C>G (p.Leu363Val)
NM_001130438.3(SPTAN1):c.1093C>G (p.Arg365Gly) rs372157740
NM_001130438.3(SPTAN1):c.1094G>A (p.Arg365His)
NM_001130438.3(SPTAN1):c.1097T>C (p.Phe366Ser) rs942915357
NM_001130438.3(SPTAN1):c.1099C>T (p.Leu367Phe) rs1851517179
NM_001130438.3(SPTAN1):c.109C>T (p.Arg37Cys) rs751473819
NM_001130438.3(SPTAN1):c.1105G>C (p.Asp369His)
NM_001130438.3(SPTAN1):c.110G>A (p.Arg37His) rs1325381089
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.1121C>A (p.Thr374Asn)
NM_001130438.3(SPTAN1):c.1131G>A (p.Val377=)
NM_001130438.3(SPTAN1):c.1142A>G (p.Lys381Arg) rs2131029556
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.1172G>A (p.Ser391Asn)
NM_001130438.3(SPTAN1):c.1176T>C (p.Asp392=) rs758571561
NM_001130438.3(SPTAN1):c.1179G>C (p.Val393=)
NM_001130438.3(SPTAN1):c.1180G>T (p.Ala394Ser)
NM_001130438.3(SPTAN1):c.1186G>A (p.Ala396Thr) rs1851525959
NM_001130438.3(SPTAN1):c.1189G>A (p.Glu397Lys) rs1589192271
NM_001130438.3(SPTAN1):c.120G>A (p.Leu40=) rs2132958989
NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter) rs2131030804
NM_001130438.3(SPTAN1):c.1217A>G (p.His406Arg)
NM_001130438.3(SPTAN1):c.1218C>T (p.His406=) rs2131030883
NM_001130438.3(SPTAN1):c.1221+11C>G rs113357847
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.1242A>G (p.Glu414=) rs137947812
NM_001130438.3(SPTAN1):c.1251C>T (p.Phe417=) rs2131061265
NM_001130438.3(SPTAN1):c.1256C>T (p.Ser419Phe)
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.1298A>G (p.Tyr433Cys)
NM_001130438.3(SPTAN1):c.129C>A (p.Ser43=)
NM_001130438.3(SPTAN1):c.1300G>T (p.Ala434Ser)
NM_001130438.3(SPTAN1):c.1308T>C (p.Asp436=)
NM_001130438.3(SPTAN1):c.130T>C (p.Tyr44His)
NM_001130438.3(SPTAN1):c.1323+15A>C rs756784077
NM_001130438.3(SPTAN1):c.1323+3A>T
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.1328C>G (p.Thr443Ser)
NM_001130438.3(SPTAN1):c.1330G>C (p.Val444Leu) rs77358650
NM_001130438.3(SPTAN1):c.1339G>T (p.Glu447Ter)
NM_001130438.3(SPTAN1):c.133C>A (p.Arg45=)
NM_001130438.3(SPTAN1):c.1349C>T (p.Ala450Val)
NM_001130438.3(SPTAN1):c.1350G>T (p.Ala450=)
NM_001130438.3(SPTAN1):c.1352C>T (p.Ala451Val) rs149336930
NM_001130438.3(SPTAN1):c.1353G>A (p.Ala451=)
NM_001130438.3(SPTAN1):c.1362G>A (p.Glu454=) rs144590741
NM_001130438.3(SPTAN1):c.1367G>A (p.Trp456Ter) rs2131088567
NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)
NM_001130438.3(SPTAN1):c.1371G>T (p.Glu457Asp) rs1589203624
NM_001130438.3(SPTAN1):c.1378A>G (p.Arg460Gly)
NM_001130438.3(SPTAN1):c.1380G>A (p.Arg460=)
NM_001130438.3(SPTAN1):c.1384C>A (p.Gln462Lys)
NM_001130438.3(SPTAN1):c.1390G>A (p.Glu464Lys)
NM_001130438.3(SPTAN1):c.1390_1398dup (p.Cys466_Met467insGluGlnCys)
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.1411C>G (p.Leu471Val)
NM_001130438.3(SPTAN1):c.1421G>A (p.Arg474Gln) rs2131089805
NM_001130438.3(SPTAN1):c.1440C>T (p.Asp480=)
NM_001130438.3(SPTAN1):c.1443C>T (p.Asn481=)
NM_001130438.3(SPTAN1):c.1451G>A (p.Ser484Asn) rs1851879535
NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu) rs1455085342
NM_001130438.3(SPTAN1):c.1461+15A>C
NM_001130438.3(SPTAN1):c.1461+19C>G
NM_001130438.3(SPTAN1):c.1461+3A>G
NM_001130438.3(SPTAN1):c.1461+4A>G rs1851880743
NM_001130438.3(SPTAN1):c.1462-11C>T
NM_001130438.3(SPTAN1):c.1462-13T>G
NM_001130438.3(SPTAN1):c.1463C>T (p.Ala488Val) rs1851980146
NM_001130438.3(SPTAN1):c.1464G>A (p.Ala488=)
NM_001130438.3(SPTAN1):c.1468C>T (p.Leu490=)
NM_001130438.3(SPTAN1):c.1473G>C (p.Leu491Phe)
NM_001130438.3(SPTAN1):c.1492T>C (p.Ser498Pro)
NM_001130438.3(SPTAN1):c.1497G>A (p.Leu499=)
NM_001130438.3(SPTAN1):c.1510G>A (p.Ala504Thr)
NM_001130438.3(SPTAN1):c.1519AAG[1] (p.Lys508del) rs2131108444
NM_001130438.3(SPTAN1):c.1524G>C (p.Lys508Asn) rs2131108546
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys) rs769320860
NM_001130438.3(SPTAN1):c.154G>A (p.Asp52Asn) rs1564194636
NM_001130438.3(SPTAN1):c.1552G>A (p.Ala518Thr)
NM_001130438.3(SPTAN1):c.1572+1G>T
NM_001130438.3(SPTAN1):c.1572+5G>C rs1851989537
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.1589C>G (p.Ala530Gly)
NM_001130438.3(SPTAN1):c.1595A>G (p.Lys532Arg) rs886063501
NM_001130438.3(SPTAN1):c.159T>A (p.Ala53=)
NM_001130438.3(SPTAN1):c.1603C>A (p.Gln535Lys) rs79650677
NM_001130438.3(SPTAN1):c.1637C>T (p.Thr546Ile)
NM_001130438.3(SPTAN1):c.1639C>T (p.Arg547Cys)
NM_001130438.3(SPTAN1):c.1640G>A (p.Arg547His) rs1277192295
NM_001130438.3(SPTAN1):c.1642C>T (p.Arg548Ter)
NM_001130438.3(SPTAN1):c.1649C>T (p.Ala550Val) rs1297146654
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.1650+8del
NM_001130438.3(SPTAN1):c.1650T>C (p.Ala550=)
NM_001130438.3(SPTAN1):c.1651C>T (p.Leu551=)
NM_001130438.3(SPTAN1):c.1653G>A (p.Leu551=) rs2131127973
NM_001130438.3(SPTAN1):c.1655T>G (p.Leu552Trp) rs1852093848
NM_001130438.3(SPTAN1):c.1656G>C (p.Leu552Phe)
NM_001130438.3(SPTAN1):c.1661G>A (p.Arg554His)
NM_001130438.3(SPTAN1):c.1662C>T (p.Arg554=) rs1398071492
NM_001130438.3(SPTAN1):c.1663C>T (p.Arg555Cys)
NM_001130438.3(SPTAN1):c.1668T>C (p.Asn556=) rs1406334272
NM_001130438.3(SPTAN1):c.1677C>G (p.His559Gln) rs587784432
NM_001130438.3(SPTAN1):c.1678G>A (p.Glu560Lys)
NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr) rs377387388
NM_001130438.3(SPTAN1):c.1694G>A (p.Arg565His)
NM_001130438.3(SPTAN1):c.1698G>A (p.Arg566=) rs2131129556
NM_001130438.3(SPTAN1):c.1708G>A (p.Ala570Thr) rs2131129868
NM_001130438.3(SPTAN1):c.1711G>A (p.Asp571Asn)
NM_001130438.3(SPTAN1):c.1718T>G (p.Phe573Cys) rs1852105472
NM_001130438.3(SPTAN1):c.1719C>A (p.Phe573Leu)
NM_001130438.3(SPTAN1):c.1741G>A (p.Asp581Asn)
NM_001130438.3(SPTAN1):c.1765G>C (p.Val589Leu)
NM_001130438.3(SPTAN1):c.1767C>T (p.Val589=)
NM_001130438.3(SPTAN1):c.1769A>G (p.Asn590Ser) rs1034518674
NM_001130438.3(SPTAN1):c.1773_1774del (p.Lys592fs) rs1852112548
NM_001130438.3(SPTAN1):c.1778T>C (p.Met593Thr) rs1382899008
NM_001130438.3(SPTAN1):c.1779G>A (p.Met593Ile)
NM_001130438.3(SPTAN1):c.1798G>A (p.Ala600Thr) rs2131131343
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.1807-3C>T rs571532593
NM_001130438.3(SPTAN1):c.1807-9T>C
NM_001130438.3(SPTAN1):c.1833A>G (p.Val611=) rs2131137645
NM_001130438.3(SPTAN1):c.1834C>T (p.Gln612Ter) rs1852152679
NM_001130438.3(SPTAN1):c.1856C>A (p.Ala619Asp) rs772608327
NM_001130438.3(SPTAN1):c.1864T>C (p.Ser622Pro)
NM_001130438.3(SPTAN1):c.1866A>G (p.Ser622=)
NM_001130438.3(SPTAN1):c.1868C>G (p.Ala623Gly)
NM_001130438.3(SPTAN1):c.1881A>C (p.Arg627=)
NM_001130438.3(SPTAN1):c.1894G>A (p.Glu632Lys)
NM_001130438.3(SPTAN1):c.1895A>G (p.Glu632Gly)
NM_001130438.3(SPTAN1):c.190C>A (p.Leu64Ile) rs1589149870
NM_001130438.3(SPTAN1):c.190C>T (p.Leu64Phe) rs1589149870
NM_001130438.3(SPTAN1):c.1927C>T (p.His643Tyr)
NM_001130438.3(SPTAN1):c.1929C>T (p.His643=)
NM_001130438.3(SPTAN1):c.1945G>A (p.Val649Met)
NM_001130438.3(SPTAN1):c.1948G>A (p.Ala650Thr)
NM_001130438.3(SPTAN1):c.1957A>T (p.Met653Leu) rs191761343
NM_001130438.3(SPTAN1):c.195G>A (p.Gln65=) rs2132960242
NM_001130438.3(SPTAN1):c.1972A>C (p.Ser658Arg)
NM_001130438.3(SPTAN1):c.1972A>G (p.Ser658Gly)
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.2028A>C (p.Glu676Asp) rs2131150901
NM_001130438.3(SPTAN1):c.2053C>T (p.Arg685Cys)
NM_001130438.3(SPTAN1):c.2054G>A (p.Arg685His)
NM_001130438.3(SPTAN1):c.2064G>A (p.Glu688=) rs587784433
NM_001130438.3(SPTAN1):c.2065G>A (p.Asp689Asn)
NM_001130438.3(SPTAN1):c.2069T>C (p.Ile690Thr)
NM_001130438.3(SPTAN1):c.2082A>T (p.Leu694=) rs2131151846
NM_001130438.3(SPTAN1):c.2087_2089del (p.Glu696del) rs2131151927
NM_001130438.3(SPTAN1):c.2089G>A (p.Val697Ile)
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp) rs1554746116
NM_001130438.3(SPTAN1):c.210G>A (p.Glu70=)
NM_001130438.3(SPTAN1):c.2114A>G (p.Asp705Gly) rs2131152396
NM_001130438.3(SPTAN1):c.2132C>T (p.Thr711Ile)
NM_001130438.3(SPTAN1):c.2135A>G (p.Asn712Ser)
NM_001130438.3(SPTAN1):c.2148C>G (p.Leu716=)
NM_001130438.3(SPTAN1):c.2148C>T (p.Leu716=)
NM_001130438.3(SPTAN1):c.2154G>T (p.Lys718Asn)
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.2193+5T>C
NM_001130438.3(SPTAN1):c.2193+6G>A rs751573290
NM_001130438.3(SPTAN1):c.2194-15C>T
NM_001130438.3(SPTAN1):c.2194-20C>T
NM_001130438.3(SPTAN1):c.2194G>A (p.Asp732Asn) rs2131160403
NM_001130438.3(SPTAN1):c.2196C>T (p.Asp732=) rs757365265
NM_001130438.3(SPTAN1):c.2197C>A (p.Arg733=)
NM_001130438.3(SPTAN1):c.2197C>T (p.Arg733Ter) rs1852298912
NM_001130438.3(SPTAN1):c.2204A>C (p.Asp735Ala)
NM_001130438.3(SPTAN1):c.2204A>G (p.Asp735Gly)
NM_001130438.3(SPTAN1):c.2206G>A (p.Gly736Ser)
NM_001130438.3(SPTAN1):c.2207G>A (p.Gly736Asp) rs868177632
NM_001130438.3(SPTAN1):c.2238T>A (p.Asp746Glu)
NM_001130438.3(SPTAN1):c.2262C>T (p.Asn754=)
NM_001130438.3(SPTAN1):c.2263A>G (p.Ile755Val) rs1852306066
NM_001130438.3(SPTAN1):c.227C>T (p.Thr76Ile) rs1850104282
NM_001130438.3(SPTAN1):c.2281G>C (p.Ala761Pro)
NM_001130438.3(SPTAN1):c.2282C>T (p.Ala761Val) rs770359554
NM_001130438.3(SPTAN1):c.2289G>A (p.Val763=)
NM_001130438.3(SPTAN1):c.2294G>A (p.Arg765His)
NM_001130438.3(SPTAN1):c.2297A>G (p.Tyr766Cys)
NM_001130438.3(SPTAN1):c.2298T>C (p.Tyr766=) rs2131162364
NM_001130438.3(SPTAN1):c.2302G>T (p.Ala768Ser)
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.2309A>G (p.Lys770Arg)
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.2330A>G (p.Lys777Arg) rs2131163322
NM_001130438.3(SPTAN1):c.2338C>T (p.Leu780=)
NM_001130438.3(SPTAN1):c.2340G>A (p.Leu780=)
NM_001130438.3(SPTAN1):c.2341G>A (p.Ala781Thr)
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.2343_2344delinsAA (p.Asp782Asn)
NM_001130438.3(SPTAN1):c.2348C>A (p.Ser783Tyr)
NM_001130438.3(SPTAN1):c.2350C>T (p.Leu784=) rs2131163659
NM_001130438.3(SPTAN1):c.2353C>T (p.Arg785Trp) rs1253697977
NM_001130438.3(SPTAN1):c.2357T>C (p.Leu786Ser)
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.238-8G>T
NM_001130438.3(SPTAN1):c.2401C>A (p.Arg801=) rs2131164463
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln) rs774283264
NM_001130438.3(SPTAN1):c.2412G>C (p.Glu804Asp) rs767815914
NM_001130438.3(SPTAN1):c.2421C>A (p.Ala807=) rs1329573763
NM_001130438.3(SPTAN1):c.2422G>T (p.Ala808Ser) rs766491965
NM_001130438.3(SPTAN1):c.2428A>G (p.Thr810Ala)
NM_001130438.3(SPTAN1):c.2432A>G (p.Asn811Ser)
NM_001130438.3(SPTAN1):c.2437+13C>T
NM_001130438.3(SPTAN1):c.2437+18A>T
NM_001130438.3(SPTAN1):c.2437+5G>A
NM_001130438.3(SPTAN1):c.2438-13T>G rs587784434
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.2483C>T (p.Ala828Val)
NM_001130438.3(SPTAN1):c.2513C>T (p.Pro838Leu) rs1589220462
NM_001130438.3(SPTAN1):c.2515C>T (p.Arg839Cys) rs999623213
NM_001130438.3(SPTAN1):c.2516G>A (p.Arg839His) rs779633188
NM_001130438.3(SPTAN1):c.2517C>T (p.Arg839=) rs2131170700
NM_001130438.3(SPTAN1):c.2521A>G (p.Lys841Glu) rs2131170781
NM_001130438.3(SPTAN1):c.252G>A (p.Lys84=)
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg) rs1564229501
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.2548A>G (p.Met850Val) rs371776794
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.2563C>T (p.His855Tyr)
NM_001130438.3(SPTAN1):c.2570C>T (p.Ala857Val) rs2131193011
NM_001130438.3(SPTAN1):c.2580T>C (p.Asp860=) rs1589223768
NM_001130438.3(SPTAN1):c.2581G>A (p.Val861Met)
NM_001130438.3(SPTAN1):c.2591A>G (p.Lys864Arg)
NM_001130438.3(SPTAN1):c.2592G>A (p.Lys864=) rs2131193482
NM_001130438.3(SPTAN1):c.2604G>A (p.Leu868=)
NM_001130438.3(SPTAN1):c.2606A>G (p.Asn869Ser)
NM_001130438.3(SPTAN1):c.2612del (p.Lys871fs) rs1852530020
NM_001130438.3(SPTAN1):c.2619G>T (p.Glu873Asp) rs1288231452
NM_001130438.3(SPTAN1):c.2630C>T (p.Ala877Val)
NM_001130438.3(SPTAN1):c.2648G>A (p.Arg883Gln)
NM_001130438.3(SPTAN1):c.2652G>A (p.Gln884=)
NM_001130438.3(SPTAN1):c.2656C>T (p.Leu886=)
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys) rs886043660
NM_001130438.3(SPTAN1):c.2666_2686dup (p.Tyr895_Phe896insSerLeuGlnAlaGlnGlnTyr)
NM_001130438.3(SPTAN1):c.2674G>T (p.Ala892Ser) rs587784435
NM_001130438.3(SPTAN1):c.2674_2675delinsTT (p.Ala892Phe)
NM_001130438.3(SPTAN1):c.2678A>G (p.Gln893Arg)
NM_001130438.3(SPTAN1):c.2679G>C (p.Gln893His)
NM_001130438.3(SPTAN1):c.2719C>T (p.Arg907Trp) rs886063502
NM_001130438.3(SPTAN1):c.2720G>A (p.Arg907Gln)
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.2746A>G (p.Thr916Ala) rs1064797353
NM_001130438.3(SPTAN1):c.2752T>A (p.Tyr918Asn) rs1589224403
NM_001130438.3(SPTAN1):c.2764G>A (p.Glu922Lys) rs2131196507
NM_001130438.3(SPTAN1):c.276G>A (p.Val92=)
NM_001130438.3(SPTAN1):c.2778+10C>A rs369106919
NM_001130438.3(SPTAN1):c.2778+10C>T
NM_001130438.3(SPTAN1):c.2778+11G>A
NM_001130438.3(SPTAN1):c.2778+19C>T
NM_001130438.3(SPTAN1):c.2778+5C>G rs2131196835
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.2797G>A (p.Glu933Lys)
NM_001130438.3(SPTAN1):c.279G>A (p.Gln93=) rs1238640716
NM_001130438.3(SPTAN1):c.2806A>G (p.Met936Val)
NM_001130438.3(SPTAN1):c.2811A>G (p.Ser937=) rs2131238281
NM_001130438.3(SPTAN1):c.2815C>T (p.Leu939Phe) rs1852827656
NM_001130438.3(SPTAN1):c.2827G>A (p.Gly943Ser)
NM_001130438.3(SPTAN1):c.282C>T (p.Ala94=)
NM_001130438.3(SPTAN1):c.2850A>G (p.Arg950=)
NM_001130438.3(SPTAN1):c.2860del (p.Gln954fs) rs2131239154
NM_001130438.3(SPTAN1):c.2861A>C (p.Gln954Pro) rs796053301
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.2881G>A (p.Ala961Thr)
NM_001130438.3(SPTAN1):c.288A>G (p.Ser96=)
NM_001130438.3(SPTAN1):c.2901T>C (p.Thr967=)
NM_001130438.3(SPTAN1):c.2902G>C (p.Gly968Arg) rs2131266449
NM_001130438.3(SPTAN1):c.2914G>A (p.Val972Ile)
NM_001130438.3(SPTAN1):c.2916C>G (p.Val972=)
NM_001130438.3(SPTAN1):c.2916C>T (p.Val972=)
NM_001130438.3(SPTAN1):c.2926T>G (p.Tyr976Asp)
NM_001130438.3(SPTAN1):c.2933A>G (p.Tyr978Cys)
NM_001130438.3(SPTAN1):c.2937G>C (p.Gln979His) rs2131267130
NM_001130438.3(SPTAN1):c.2951G>A (p.Arg984Gln) rs1057521149
NM_001130438.3(SPTAN1):c.2952A>G (p.Arg984=) rs1336849990
NM_001130438.3(SPTAN1):c.2961del (p.Thr987_Met988insTer) rs1853049371
NM_001130438.3(SPTAN1):c.298G>A (p.Val100Ile)
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.3006+6G>A rs2131267970
NM_001130438.3(SPTAN1):c.3006+7C>T
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.3030C>A (p.Asn1010Lys)
NM_001130438.3(SPTAN1):c.3034C>G (p.Arg1012Gly)
NM_001130438.3(SPTAN1):c.3045T>C (p.Phe1015=)
NM_001130438.3(SPTAN1):c.3048G>T (p.Val1016=)
NM_001130438.3(SPTAN1):c.3056C>T (p.Ala1019Val) rs1349058117
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.305T>G (p.Leu102Arg) rs150793549
NM_001130438.3(SPTAN1):c.3076C>T (p.Pro1026Ser)
NM_001130438.3(SPTAN1):c.3077C>G (p.Pro1026Arg) rs1853527559
NM_001130438.3(SPTAN1):c.3079G>A (p.Ala1027Thr) rs779759134
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.3095G>A (p.Arg1032Gln) rs765075763
NM_001130438.3(SPTAN1):c.3097G>A (p.Glu1033Lys)
NM_001130438.3(SPTAN1):c.3100A>G (p.Asn1034Asp)
NM_001130438.3(SPTAN1):c.3102T>A (p.Asn1034Lys) rs760755333
NM_001130438.3(SPTAN1):c.3102T>G (p.Asn1034Lys)
NM_001130438.3(SPTAN1):c.3103C>A (p.Leu1035Ile)
NM_001130438.3(SPTAN1):c.3103C>T (p.Leu1035Phe) rs1853533209
NM_001130438.3(SPTAN1):c.3116A>G (p.Gln1039Arg) rs1853534747
NM_001130438.3(SPTAN1):c.3121A>G (p.Ser1041Gly) rs2131319338
NM_001130438.3(SPTAN1):c.3131T>C (p.Leu1044Pro)
NM_001130438.3(SPTAN1):c.3139G>A (p.Glu1047Lys) rs1853536448
NM_001130438.3(SPTAN1):c.3144G>T (p.Gln1048His)
NM_001130438.3(SPTAN1):c.3145A>G (p.Ile1049Val)
NM_001130438.3(SPTAN1):c.3146T>C (p.Ile1049Thr)
NM_001130438.3(SPTAN1):c.3155+11C>T
NM_001130438.3(SPTAN1):c.3155+6G>A
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.3156-4G>A rs549061995
NM_001130438.3(SPTAN1):c.3156-6G>T
NM_001130438.3(SPTAN1):c.315T>C (p.Thr105=) rs1182605348
NM_001130438.3(SPTAN1):c.3161G>C (p.Arg1054Pro)
NM_001130438.3(SPTAN1):c.3167C>T (p.Thr1056Ile) rs1428641675
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg) rs1564197227
NM_001130438.3(SPTAN1):c.3177C>G (p.Ala1059=) rs369531936
NM_001130438.3(SPTAN1):c.3182G>C (p.Ser1061Thr)
NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val) rs764844675
NM_001130438.3(SPTAN1):c.3202C>G (p.Gln1068Glu) rs2131342579
NM_001130438.3(SPTAN1):c.3213A>C (p.Glu1071Asp)
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.3220C>A (p.His1074Asn) rs1349491364
NM_001130438.3(SPTAN1):c.3228G>A (p.Leu1076=)
NM_001130438.3(SPTAN1):c.322C>G (p.Leu108Val) rs2130860508
NM_001130438.3(SPTAN1):c.3247C>T (p.Arg1083Cys) rs750290385
NM_001130438.3(SPTAN1):c.3251_3252del (p.Lys1084fs) rs2131360489
NM_001130438.3(SPTAN1):c.3253G>A (p.Gly1085Ser)
NM_001130438.3(SPTAN1):c.3267G>A (p.Lys1089=) rs2131360582
NM_001130438.3(SPTAN1):c.3279del (p.Lys1093fs) rs1853919580
NM_001130438.3(SPTAN1):c.3283A>C (p.Met1095Leu) rs2131360708
NM_001130438.3(SPTAN1):c.3292C>G (p.Arg1098Gly) rs1853920585
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys) rs1853920585
NM_001130438.3(SPTAN1):c.3292del (p.Arg1098fs)
NM_001130438.3(SPTAN1):c.3293G>A (p.Arg1098His) rs1853921006
NM_001130438.3(SPTAN1):c.3299C>T (p.Ala1100Val)
NM_001130438.3(SPTAN1):c.3304G>C (p.Glu1102Gln)
NM_001130438.3(SPTAN1):c.3310C>A (p.Gln1104Lys)
NM_001130438.3(SPTAN1):c.3316T>C (p.Trp1106Arg)
NM_001130438.3(SPTAN1):c.3318G>C (p.Trp1106Cys)
NM_001130438.3(SPTAN1):c.3321C>T (p.Ile1107=)
NM_001130438.3(SPTAN1):c.3323A>G (p.Asn1108Ser)
NM_001130438.3(SPTAN1):c.3336C>T (p.Ala1112=)
NM_001130438.3(SPTAN1):c.3360A>G (p.Gly1120=)
NM_001130438.3(SPTAN1):c.3365A>G (p.Asp1122Gly)
NM_001130438.3(SPTAN1):c.3390G>A (p.Gln1130=) rs2131361631
NM_001130438.3(SPTAN1):c.3414+12C>T rs2131361950
NM_001130438.3(SPTAN1):c.3415-11T>C
NM_001130438.3(SPTAN1):c.3415-14C>T
NM_001130438.3(SPTAN1):c.3415-17T>C
NM_001130438.3(SPTAN1):c.3425C>T (p.Ala1142Val) rs1854605015
NM_001130438.3(SPTAN1):c.3437G>A (p.Arg1146Gln) rs1854606025
NM_001130438.3(SPTAN1):c.3444G>T (p.Lys1148Asn)
NM_001130438.3(SPTAN1):c.3472G>A (p.Glu1158Lys) rs1379161622
NM_001130438.3(SPTAN1):c.348A>G (p.Ala116=)
NM_001130438.3(SPTAN1):c.3491C>T (p.Ala1164Val)
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.3520-2A>G
NM_001130438.3(SPTAN1):c.3523G>A (p.Val1175Met)
NM_001130438.3(SPTAN1):c.3523G>C (p.Val1175Leu)
NM_001130438.3(SPTAN1):c.3528T>C (p.Tyr1176=) rs1589272670
NM_001130438.3(SPTAN1):c.3530G>A (p.Gly1177Asp)
NM_001130438.3(SPTAN1):c.3530G>T (p.Gly1177Val)
NM_001130438.3(SPTAN1):c.3536T>C (p.Met1179Thr) rs564155435
NM_001130438.3(SPTAN1):c.3538C>T (p.Pro1180Ser) rs1554754141
NM_001130438.3(SPTAN1):c.3540C>G (p.Pro1180=) rs1060504932
NM_001130438.3(SPTAN1):c.3542G>T (p.Arg1181Met)
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.3562A>G (p.Thr1188Ala) rs2131475357
NM_001130438.3(SPTAN1):c.3565G>A (p.Ala1189Thr)
NM_001130438.3(SPTAN1):c.3566C>A (p.Ala1189Asp) rs1004013873
NM_001130438.3(SPTAN1):c.3567C>A (p.Ala1189=) rs2131475513
NM_001130438.3(SPTAN1):c.3568T>G (p.Ser1190Ala) rs2131475553
NM_001130438.3(SPTAN1):c.3571C>T (p.Pro1191Ser)
NM_001130438.3(SPTAN1):c.3572C>T (p.Pro1191Leu) rs796053304
NM_001130438.3(SPTAN1):c.3573G>A (p.Pro1191=) rs781021400
NM_001130438.3(SPTAN1):c.3574T>C (p.Trp1192Arg) rs796053305
NM_001130438.3(SPTAN1):c.3579+21del rs2131476505
NM_001130438.3(SPTAN1):c.3579+3A>G
NM_001130438.3(SPTAN1):c.3579+5_3579+8del
NM_001130438.3(SPTAN1):c.3579+8C>A rs1854910788
NM_001130438.3(SPTAN1):c.3579G>A (p.Lys1193=)
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.3580-8C>G
NM_001130438.3(SPTAN1):c.3584C>T (p.Ala1195Val)
NM_001130438.3(SPTAN1):c.3587G>A (p.Arg1196His)
NM_001130438.3(SPTAN1):c.358A>G (p.Ile120Val) rs1244278345
NM_001130438.3(SPTAN1):c.3603C>T (p.Thr1201=)
NM_001130438.3(SPTAN1):c.361C>T (p.Arg121Trp) rs1376670407
NM_001130438.3(SPTAN1):c.3623T>C (p.Ile1208Thr)
NM_001130438.3(SPTAN1):c.3626A>C (p.Lys1209Thr)
NM_001130438.3(SPTAN1):c.3627+20_3627+21delinsAG
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.363+1G>A rs1554737064
NM_001130438.3(SPTAN1):c.363+3G>A
NM_001130438.3(SPTAN1):c.363G>A (p.Arg121=) rs1312160720
NM_001130438.3(SPTAN1):c.363_363+18dup
NM_001130438.3(SPTAN1):c.364-14T>A rs1851102352
NM_001130438.3(SPTAN1):c.364-20C>T rs780867742
NM_001130438.3(SPTAN1):c.364-3C>G rs1851102695
NM_001130438.3(SPTAN1):c.364-7C>T
NM_001130438.3(SPTAN1):c.3641_3658dup (p.Gln1219_Gln1220insArgTrpArgSerLeuGln)
NM_001130438.3(SPTAN1):c.3647G>T (p.Arg1216Leu)
NM_001130438.3(SPTAN1):c.3659A>G (p.Gln1220Arg)
NM_001130438.3(SPTAN1):c.3663G>A (p.Leu1221=)
NM_001130438.3(SPTAN1):c.3664G>T (p.Ala1222Ser) rs796053306
NM_001130438.3(SPTAN1):c.3666C>T (p.Ala1222=) rs372831978
NM_001130438.3(SPTAN1):c.366C>T (p.Thr122=)
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg) rs1554756114
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.3719+5G>C
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.373A>G (p.Met125Val) rs1564206483
NM_001130438.3(SPTAN1):c.373A>T (p.Met125Leu)
NM_001130438.3(SPTAN1):c.374T>C (p.Met125Thr) rs2130964756
NM_001130438.3(SPTAN1):c.3756G>C (p.Lys1252Asn) rs1855650696
NM_001130438.3(SPTAN1):c.3775G>A (p.Asp1259Asn) rs1855652617
NM_001130438.3(SPTAN1):c.3776A>G (p.Asp1259Gly) rs1229172232
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
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.37G>C (p.Glu13Gln)
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.3864+6A>G
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.3872C>T (p.Ser1291Phe)
NM_001130438.3(SPTAN1):c.3877G>T (p.Gly1293Cys)
NM_001130438.3(SPTAN1):c.3885A>G (p.Thr1295=)
NM_001130438.3(SPTAN1):c.3899T>C (p.Ile1300Thr) rs1048236
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.390G>T (p.Gln130His) rs975951020
NM_001130438.3(SPTAN1):c.3956A>G (p.Gln1319Arg) rs1412090989
NM_001130438.3(SPTAN1):c.3980G>A (p.Arg1327His)
NM_001130438.3(SPTAN1):c.3981T>G (p.Arg1327=) rs1855698042
NM_001130438.3(SPTAN1):c.3988C>G (p.Gln1330Glu)
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser) rs1407200590
NM_001130438.3(SPTAN1):c.3992G>A (p.Arg1331His)
NM_001130438.3(SPTAN1):c.3998C>G (p.Ala1333Gly) rs2131576989
NM_001130438.3(SPTAN1):c.3999A>G (p.Ala1333=)
NM_001130438.3(SPTAN1):c.4009G>A (p.Asp1337Asn)
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.4046+11A>G rs765778684
NM_001130438.3(SPTAN1):c.4046+12T>C
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752
NM_001130438.3(SPTAN1):c.4046+6G>A rs1589298035
NM_001130438.3(SPTAN1):c.4047-14G>A
NM_001130438.3(SPTAN1):c.4047-14G>C rs558154123
NM_001130438.3(SPTAN1):c.4047-14G>T rs558154123
NM_001130438.3(SPTAN1):c.4047-18T>G
NM_001130438.3(SPTAN1):c.4048G>A (p.Asp1350Asn) rs1564278818
NM_001130438.3(SPTAN1):c.4055T>C (p.Met1352Thr)
NM_001130438.3(SPTAN1):c.405G>C (p.Leu135Phe)
NM_001130438.3(SPTAN1):c.4067A>G (p.Asn1356Ser)
NM_001130438.3(SPTAN1):c.4071A>G (p.Gly1357=)
NM_001130438.3(SPTAN1):c.4079G>T (p.Gly1360Val) rs2131613100
NM_001130438.3(SPTAN1):c.4094A>G (p.Asp1365Gly) rs1175320305
NM_001130438.3(SPTAN1):c.4115C>T (p.Thr1372Ile) rs2131613513
NM_001130438.3(SPTAN1):c.4117G>A (p.Gly1373Arg)
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.4146+3G>A rs990426186
NM_001130438.3(SPTAN1):c.4146+4G>C rs1856067067
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.4148A>G (p.Glu1383Gly) rs1019310261
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp) rs770189298
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter) rs1851109762
NM_001130438.3(SPTAN1):c.4164C>G (p.Ile1388Met) rs759713935
NM_001130438.3(SPTAN1):c.4170C>T (p.Ala1390=) rs1589309475
NM_001130438.3(SPTAN1):c.4184T>C (p.Phe1395Ser) rs1239390443
NM_001130438.3(SPTAN1):c.4197G>A (p.Glu1399=) rs367635991
NM_001130438.3(SPTAN1):c.4201T>A (p.Phe1401Ile)
NM_001130438.3(SPTAN1):c.4205G>A (p.Gly1402Glu)
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.4219G>T (p.Ala1407Ser) rs2131616745
NM_001130438.3(SPTAN1):c.4223A>G (p.His1408Arg) rs2131616851
NM_001130438.3(SPTAN1):c.4226G>A (p.Gly1409Glu)
NM_001130438.3(SPTAN1):c.4227A>G (p.Gly1409=)
NM_001130438.3(SPTAN1):c.4229A>G (p.His1410Arg)
NM_001130438.3(SPTAN1):c.4241C>T (p.Pro1414Leu)
NM_001130438.3(SPTAN1):c.4248C>G (p.Ile1416Met)
NM_001130438.3(SPTAN1):c.4249A>G (p.Lys1417Glu) rs2131617226
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys) rs1156309213
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.4285G>A (p.Asp1429Asn)
NM_001130438.3(SPTAN1):c.428T>A (p.Ile143Asn)
NM_001130438.3(SPTAN1):c.4296G>T (p.Lys1432Asn)
NM_001130438.3(SPTAN1):c.4297G>C (p.Ala1433Pro) rs1444736163
NM_001130438.3(SPTAN1):c.4330T>C (p.Cys1444Arg)
NM_001130438.3(SPTAN1):c.4331G>A (p.Cys1444Tyr)
NM_001130438.3(SPTAN1):c.4343A>C (p.Gln1448Pro) rs1856116625
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.4344+5G>C
NM_001130438.3(SPTAN1):c.4344+6T>C rs2131618659
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.4345-3T>C
NM_001130438.3(SPTAN1):c.4345-9C>A
NM_001130438.3(SPTAN1):c.4350C>A (p.Phe1450Leu)
NM_001130438.3(SPTAN1):c.4354C>T (p.Arg1452Trp)
NM_001130438.3(SPTAN1):c.4360T>G (p.Cys1454Gly) rs1220414198
NM_001130438.3(SPTAN1):c.4364A>G (p.Glu1455Gly)
NM_001130438.3(SPTAN1):c.4364A>T (p.Glu1455Val)
NM_001130438.3(SPTAN1):c.4378T>C (p.Trp1460Arg)
NM_001130438.3(SPTAN1):c.4388C>A (p.Ala1463Asp)
NM_001130438.3(SPTAN1):c.4390C>T (p.Arg1464Trp) rs1489830382
NM_001130438.3(SPTAN1):c.4391G>T (p.Arg1464Leu)
NM_001130438.3(SPTAN1):c.4392G>A (p.Arg1464=)
NM_001130438.3(SPTAN1):c.4397C>A (p.Ala1466Asp)
NM_001130438.3(SPTAN1):c.4411G>A (p.Glu1471Lys)
NM_001130438.3(SPTAN1):c.4414_4415delinsAC (p.Asp1472Thr)
NM_001130438.3(SPTAN1):c.442G>A (p.Ala148Thr) rs1190475290
NM_001130438.3(SPTAN1):c.4432G>A (p.Asp1478Asn) rs2131620796
NM_001130438.3(SPTAN1):c.4435A>G (p.Ser1479Gly)
NM_001130438.3(SPTAN1):c.4438G>A (p.Val1480Ile)
NM_001130438.3(SPTAN1):c.4455A>C (p.Lys1485Asn) rs1856146384
NM_001130438.3(SPTAN1):c.4458A>G (p.Lys1486=) rs1411742904
NM_001130438.3(SPTAN1):c.4460A>G (p.His1487Arg) rs1589311413
NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu) rs1589311413
NM_001130438.3(SPTAN1):c.4478C>T (p.Ala1493Val) rs2131621179
NM_001130438.3(SPTAN1):c.4479G>T (p.Ala1493=) rs201716851
NM_001130438.3(SPTAN1):c.447G>T (p.Gln149His)
NM_001130438.3(SPTAN1):c.4482T>C (p.Ile1494=)
NM_001130438.3(SPTAN1):c.4486G>A (p.Val1496Ile)
NM_001130438.3(SPTAN1):c.4490A>C (p.Gln1497Pro) rs1856150338
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.4514A>T (p.Gln1505Leu) rs2131630842
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.451T>A (p.Leu151Met) rs2130966073
NM_001130438.3(SPTAN1):c.4526A>G (p.Asp1509Gly)
NM_001130438.3(SPTAN1):c.4533C>G (p.Leu1511=) rs375026050
NM_001130438.3(SPTAN1):c.4535T>A (p.Ile1512Asn)
NM_001130438.3(SPTAN1):c.4537G>A (p.Ala1513Thr)
NM_001130438.3(SPTAN1):c.4542C>T (p.Ala1514=)
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys) rs149899658
NM_001130438.3(SPTAN1):c.4547A>C (p.His1516Pro) rs1060503491
NM_001130438.3(SPTAN1):c.4547A>G (p.His1516Arg) rs1060503491
NM_001130438.3(SPTAN1):c.4551T>C (p.Tyr1517=) rs570247500
NM_001130438.3(SPTAN1):c.4552G>A (p.Ala1518Thr) rs1564282020
NM_001130438.3(SPTAN1):c.4556A>G (p.Lys1519Arg)
NM_001130438.3(SPTAN1):c.4561G>T (p.Asp1521Tyr)
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.4571G>A (p.Ser1524Asn)
NM_001130438.3(SPTAN1):c.4573C>T (p.Arg1525Trp)
NM_001130438.3(SPTAN1):c.4585G>C (p.Val1529Leu) rs2131632285
NM_001130438.3(SPTAN1):c.4595+18C>T
NM_001130438.3(SPTAN1):c.4595+7G>A
NM_001130438.3(SPTAN1):c.4596-17T>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.4615C>G (p.Gln1539Glu) rs2131635386
NM_001130438.3(SPTAN1):c.4622T>C (p.Ile1541Thr)
NM_001130438.3(SPTAN1):c.4630A>C (p.Arg1544=) rs373650761
NM_001130438.3(SPTAN1):c.4640T>A (p.Leu1547Gln) rs1856289676
NM_001130438.3(SPTAN1):c.4641A>G (p.Leu1547=)
NM_001130438.3(SPTAN1):c.4653A>G (p.Gln1551=) rs2131635657
NM_001130438.3(SPTAN1):c.4655C>G (p.Thr1552Ser)
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.4678G>A (p.Val1560Met) rs1856292384
NM_001130438.3(SPTAN1):c.4686G>A (p.Glu1562=) rs2131635933
NM_001130438.3(SPTAN1):c.4700T>G (p.Ile1567Ser)
NM_001130438.3(SPTAN1):c.470A>G (p.Glu157Gly)
NM_001130438.3(SPTAN1):c.4716A>G (p.Gln1572=) rs755612920
NM_001130438.3(SPTAN1):c.472T>C (p.Cys158Arg)
NM_001130438.3(SPTAN1):c.4733C>T (p.Ser1578Leu) rs756887707
NM_001130438.3(SPTAN1):c.4734G>A (p.Ser1578=) rs370640807
NM_001130438.3(SPTAN1):c.4734G>T (p.Ser1578=)
NM_001130438.3(SPTAN1):c.4747A>C (p.Thr1583Pro) rs1856299526
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.4804G>A (p.Ala1602Thr) rs776999454
NM_001130438.3(SPTAN1):c.4806A>C (p.Ala1602=)
NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr) rs1564286708
NM_001130438.3(SPTAN1):c.4814A>G (p.His1605Arg)
NM_001130438.3(SPTAN1):c.4815T>C (p.His1605=) rs2131676265
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.482T>C (p.Val161Ala)
NM_001130438.3(SPTAN1):c.4834C>T (p.Arg1612Cys)
NM_001130438.3(SPTAN1):c.4835G>A (p.Arg1612His)
NM_001130438.3(SPTAN1):c.4839G>A (p.Gly1613=)
NM_001130438.3(SPTAN1):c.4845C>T (p.Ile1615=)
NM_001130438.3(SPTAN1):c.4846G>A (p.Asp1616Asn)
NM_001130438.3(SPTAN1):c.4849A>G (p.Met1617Val)
NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser) rs1554759745
NM_001130438.3(SPTAN1):c.4863C>T (p.Leu1621=)
NM_001130438.3(SPTAN1):c.4884C>T (p.Ala1628=) rs759241143
NM_001130438.3(SPTAN1):c.4885G>A (p.Gly1629Ser)
NM_001130438.3(SPTAN1):c.4887C>T (p.Gly1629=) rs1057522726
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.4907C>T (p.Ala1636Val)
NM_001130438.3(SPTAN1):c.4910G>T (p.Arg1637Leu) rs777707442
NM_001130438.3(SPTAN1):c.4918G>C (p.Ala1640Pro) rs1554759970
NM_001130438.3(SPTAN1):c.4929C>T (p.Asp1643=) rs1379977913
NM_001130438.3(SPTAN1):c.4936C>T (p.Gln1646Ter) rs1856640613
NM_001130438.3(SPTAN1):c.4941C>A (p.Phe1647Leu)
NM_001130438.3(SPTAN1):c.4947G>A (p.Val1649=)
NM_001130438.3(SPTAN1):c.4956A>G (p.Ser1652=)
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu) rs374723711
NM_001130438.3(SPTAN1):c.4958C>T (p.Ala1653Val) rs374723711
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro) rs1589327320
NM_001130438.3(SPTAN1):c.4995G>A (p.Gln1665=) rs2131682537
NM_001130438.3(SPTAN1):c.5016C>T (p.Ile1672=)
NM_001130438.3(SPTAN1):c.5017A>G (p.Lys1673Glu) rs2131682815
NM_001130438.3(SPTAN1):c.501C>T (p.Asp167=) rs1851117702
NM_001130438.3(SPTAN1):c.5023T>A (p.Phe1675Ile) rs1129924
NM_001130438.3(SPTAN1):c.5035C>T (p.Leu1679=)
NM_001130438.3(SPTAN1):c.5038T>G (p.Ser1680Ala) rs1856647848
NM_001130438.3(SPTAN1):c.504+14A>C
NM_001130438.3(SPTAN1):c.5043+11G>A
NM_001130438.3(SPTAN1):c.5043+4A>C rs745921302
NM_001130438.3(SPTAN1):c.5043+5C>A
NM_001130438.3(SPTAN1):c.5043+7C>T
NM_001130438.3(SPTAN1):c.5044-10del
NM_001130438.3(SPTAN1):c.5044-11_5044-10dup
NM_001130438.3(SPTAN1):c.5044-8A>G
NM_001130438.3(SPTAN1):c.5044G>A (p.Val1682Met) rs2131703648
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.505-4A>G rs377129746
NM_001130438.3(SPTAN1):c.5058G>A (p.Leu1686=)
NM_001130438.3(SPTAN1):c.5076C>A (p.Gly1692=) rs761438413
NM_001130438.3(SPTAN1):c.5083C>T (p.Leu1695=)
NM_001130438.3(SPTAN1):c.5090C>T (p.Ser1697Phe)
NM_001130438.3(SPTAN1):c.5091T>C (p.Ser1697=)
NM_001130438.3(SPTAN1):c.5114A>C (p.His1705Pro)
NM_001130438.3(SPTAN1):c.5119C>T (p.Leu1707=)
NM_001130438.3(SPTAN1):c.5128G>A (p.Ala1710Thr)
NM_001130438.3(SPTAN1):c.512T>C (p.Ile171Thr)
NM_001130438.3(SPTAN1):c.5135T>C (p.Ile1712Thr)
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.5140G>A (p.Ala1714Thr) rs1856789445
NM_001130438.3(SPTAN1):c.5140G>T (p.Ala1714Ser)
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.5149-3dup rs2131743536
NM_001130438.3(SPTAN1):c.5149-6C>A
NM_001130438.3(SPTAN1):c.5149-8del
NM_001130438.3(SPTAN1):c.5158A>G (p.Lys1720Glu) rs2131743765
NM_001130438.3(SPTAN1):c.5163C>G (p.Asp1721Glu)
NM_001130438.3(SPTAN1):c.5190G>T (p.Met1730Ile)
NM_001130438.3(SPTAN1):c.5194A>T (p.Ser1732Cys) rs2131744077
NM_001130438.3(SPTAN1):c.5195G>T (p.Ser1732Ile) rs751640888
NM_001130438.3(SPTAN1):c.5202C>T (p.Ala1734=) rs2131744231
NM_001130438.3(SPTAN1):c.5206G>A (p.Asp1736Asn) rs148294757
NM_001130438.3(SPTAN1):c.5210C>T (p.Thr1737Ile)
NM_001130438.3(SPTAN1):c.5213C>G (p.Ser1738Cys) rs2131744493
NM_001130438.3(SPTAN1):c.5222A>G (p.Lys1741Arg) rs1857080869
NM_001130438.3(SPTAN1):c.5234A>G (p.Asp1745Gly)
NM_001130438.3(SPTAN1):c.5249G>A (p.Arg1750His)
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg) rs1857087403
NM_001130438.3(SPTAN1):c.5273C>T (p.Ala1758Val)
NM_001130438.3(SPTAN1):c.5282G>T (p.Arg1761Leu) rs755046868
NM_001130438.3(SPTAN1):c.5285G>A (p.Arg1762Gln)
NM_001130438.3(SPTAN1):c.5293C>A (p.Leu1765Met) rs2131745997
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.5326C>T (p.Arg1776Trp) rs1232614751
NM_001130438.3(SPTAN1):c.5327G>A (p.Arg1776Gln) rs754299854
NM_001130438.3(SPTAN1):c.5333T>C (p.Met1778Thr)
NM_001130438.3(SPTAN1):c.5334G>T (p.Met1778Ile)
NM_001130438.3(SPTAN1):c.5337T>C (p.Asp1779=)
NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp) rs2130975930
NM_001130438.3(SPTAN1):c.5341G>A (p.Glu1781Lys) rs368949860
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.535C>A (p.Gln179Lys) rs1589179268
NM_001130438.3(SPTAN1):c.5373G>T (p.Leu1791=)
NM_001130438.3(SPTAN1):c.5382A>C (p.Ser1794=) rs1359210582
NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter) rs146418243
NM_001130438.3(SPTAN1):c.5392G>T (p.Gly1798Cys) rs756006714
NM_001130438.3(SPTAN1):c.5410G>A (p.Val1804Met)
NM_001130438.3(SPTAN1):c.5423G>A (p.Arg1808Lys) rs2131791086
NM_001130438.3(SPTAN1):c.5425A>T (p.Lys1809Ter)
NM_001130438.3(SPTAN1):c.5431C>T (p.His1811Tyr)
NM_001130438.3(SPTAN1):c.5433C>T (p.His1811=) rs772382171
NM_001130438.3(SPTAN1):c.5437C>T (p.Arg1813Trp) rs3750333
NM_001130438.3(SPTAN1):c.5453T>A (p.Leu1818Gln)
NM_001130438.3(SPTAN1):c.5463T>C (p.His1821=)
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr) rs796053320
NM_001130438.3(SPTAN1):c.5473A>G (p.Ile1825Val)
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.5479-3C>T rs1464939078
NM_001130438.3(SPTAN1):c.5479-5G>A rs1554763238
NM_001130438.3(SPTAN1):c.5482G>A (p.Val1828Ile)
NM_001130438.3(SPTAN1):c.5483T>C (p.Val1828Ala)
NM_001130438.3(SPTAN1):c.548A>G (p.His183Arg)
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.5500A>G (p.Lys1834Glu) rs2131798457
NM_001130438.3(SPTAN1):c.5509G>A (p.Asp1837Asn)
NM_001130438.3(SPTAN1):c.5527A>G (p.Lys1843Glu) rs2131799096
NM_001130438.3(SPTAN1):c.5529A>G (p.Lys1843=) rs776079416
NM_001130438.3(SPTAN1):c.5530G>C (p.Glu1844Gln)
NM_001130438.3(SPTAN1):c.5531_5532del (p.Glu1844fs)
NM_001130438.3(SPTAN1):c.5560G>T (p.Val1854Leu) rs752677999
NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)
NM_001130438.3(SPTAN1):c.5568C>T (p.His1856=) rs1857396464
NM_001130438.3(SPTAN1):c.5576A>C (p.Glu1859Ala)
NM_001130438.3(SPTAN1):c.5576A>G (p.Glu1859Gly) rs2131800107
NM_001130438.3(SPTAN1):c.5592A>C (p.Ala1864=) rs1857398448
NM_001130438.3(SPTAN1):c.5592A>G (p.Ala1864=)
NM_001130438.3(SPTAN1):c.5594C>A (p.Ala1865Asp) rs1589354582
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
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.5602G>T (p.Gly1868Cys) rs2131816719
NM_001130438.3(SPTAN1):c.5608C>T (p.Arg1870Trp) rs1423165476
NM_001130438.3(SPTAN1):c.5609G>A (p.Arg1870Gln) rs1857510980
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.5674A>C (p.Asn1892His)
NM_001130438.3(SPTAN1):c.5676T>C (p.Asn1892=) rs2131817623
NM_001130438.3(SPTAN1):c.5679G>T (p.Glu1893Asp) rs1857518094
NM_001130438.3(SPTAN1):c.5694G>A (p.Val1898=) rs867428978
NM_001130438.3(SPTAN1):c.56G>A (p.Arg19Gln)
NM_001130438.3(SPTAN1):c.5701G>A (p.Glu1901Lys)
NM_001130438.3(SPTAN1):c.5702A>G (p.Glu1901Gly) rs2131818051
NM_001130438.3(SPTAN1):c.5706T>C (p.Asp1902=) rs2131818082
NM_001130438.3(SPTAN1):c.570A>G (p.Lys190=)
NM_001130438.3(SPTAN1):c.5717C>G (p.Thr1906Ser)
NM_001130438.3(SPTAN1):c.5724C>A (p.Ala1908=) rs886063507
NM_001130438.3(SPTAN1):c.5725G>A (p.Ala1909Thr)
NM_001130438.3(SPTAN1):c.5733+18G>A
NM_001130438.3(SPTAN1):c.5733+3G>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.5763G>T (p.Glu1921Asp)
NM_001130438.3(SPTAN1):c.5788C>T (p.Arg1930Cys) rs267602137
NM_001130438.3(SPTAN1):c.5789G>A (p.Arg1930His) rs771921943
NM_001130438.3(SPTAN1):c.5804G>A (p.Cys1935Tyr)
NM_001130438.3(SPTAN1):c.5814A>G (p.Gly1938=)
NM_001130438.3(SPTAN1):c.5818G>C (p.Asp1940His)
NM_001130438.3(SPTAN1):c.5818G>T (p.Asp1940Tyr)
NM_001130438.3(SPTAN1):c.5823C>T (p.Leu1941=)
NM_001130438.3(SPTAN1):c.5832+15T>C
NM_001130438.3(SPTAN1):c.5832+3G>A rs1368511172
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.5836A>T (p.Asn1946Tyr) rs1858409467
NM_001130438.3(SPTAN1):c.5841C>G (p.His1947Gln) rs1564311308
NM_001130438.3(SPTAN1):c.5867T>A (p.Met1956Lys)
NM_001130438.3(SPTAN1):c.5867T>C (p.Met1956Thr) rs878854246
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.5891C>T (p.Ser1964Leu)
NM_001130438.3(SPTAN1):c.5895C>T (p.Asp1965=) rs1471583021
NM_001130438.3(SPTAN1):c.5898G>C (p.Leu1966=)
NM_001130438.3(SPTAN1):c.5899G>C (p.Glu1967Gln) rs1858419335
NM_001130438.3(SPTAN1):c.58dup (p.Gln20fs)
NM_001130438.3(SPTAN1):c.5904A>G (p.Lys1968=) rs778709187
NM_001130438.3(SPTAN1):c.5915A>G (p.Gln1972Arg)
NM_001130438.3(SPTAN1):c.591T>C (p.Asp197=) rs2130976410
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg) rs1858423393
NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly) rs772780483
NM_001130438.3(SPTAN1):c.5924C>T (p.Ala1975Val) rs772780483
NM_001130438.3(SPTAN1):c.5928G>A (p.Lys1976=)
NM_001130438.3(SPTAN1):c.592A>G (p.Met198Val)
NM_001130438.3(SPTAN1):c.593T>A (p.Met198Lys) rs924110992
NM_001130438.3(SPTAN1):c.5944G>T (p.Ala1982Ser) rs2131923594
NM_001130438.3(SPTAN1):c.5948T>G (p.Phe1983Cys)
NM_001130438.3(SPTAN1):c.5950C>A (p.Leu1984Ile) rs1440498629
NM_001130438.3(SPTAN1):c.5960A>C (p.Asn1987Thr) rs768166158
NM_001130438.3(SPTAN1):c.5960A>T (p.Asn1987Ile) rs768166158
NM_001130438.3(SPTAN1):c.5966A>G (p.Lys1989Arg)
NM_001130438.3(SPTAN1):c.5970G>A (p.Ala1990=)
NM_001130438.3(SPTAN1):c.5981A>G (p.Glu1994Gly) rs11543346
NM_001130438.3(SPTAN1):c.5984C>T (p.Ser1995Phe)
NM_001130438.3(SPTAN1):c.5991C>T (p.Ile1997=)
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.6016A>T (p.Thr2006Ser)
NM_001130438.3(SPTAN1):c.6019_6020del (p.Thr2006_Asp2007insTer)
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.6067C>G (p.Gln2023Glu)
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.6070-3C>G rs1858641214
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.6088C>T (p.Leu2030=)
NM_001130438.3(SPTAN1):c.6093G>T (p.Gln2031His)
NM_001130438.3(SPTAN1):c.6100C>T (p.Gln2034Ter) rs2131952314
NM_001130438.3(SPTAN1):c.6103C>A (p.Gln2035Lys) rs145129059
NM_001130438.3(SPTAN1):c.6103C>G (p.Gln2035Glu)
NM_001130438.3(SPTAN1):c.6114T>G (p.Ile2038Met)
NM_001130438.3(SPTAN1):c.6120C>T (p.Asn2040=) rs2131952739
NM_001130438.3(SPTAN1):c.6138T>C (p.Asp2046=)
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg) rs2131953509
NM_001130438.3(SPTAN1):c.615T>G (p.Val205=)
NM_001130438.3(SPTAN1):c.6165G>T (p.Gln2055His) rs2131953698
NM_001130438.3(SPTAN1):c.6169A>G (p.Lys2057Glu)
NM_001130438.3(SPTAN1):c.6175A>G (p.Ile2059Val)
NM_001130438.3(SPTAN1):c.6177C>T (p.Ile2059=)
NM_001130438.3(SPTAN1):c.617A>T (p.Asn206Ile) rs752726486
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp) rs2131953982
NM_001130438.3(SPTAN1):c.6187C>T (p.His2063Tyr)
NM_001130438.3(SPTAN1):c.6189C>T (p.His2063=) rs367629442
NM_001130438.3(SPTAN1):c.6191C>T (p.Ala2064Val)
NM_001130438.3(SPTAN1):c.6192C>G (p.Ala2064=)
NM_001130438.3(SPTAN1):c.6198C>T (p.Leu2066=) rs138305416
NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
NM_001130438.3(SPTAN1):c.6201G>T (p.Met2067Ile) rs2131954418
NM_001130438.3(SPTAN1):c.6206G>A (p.Arg2069Lys)
NM_001130438.3(SPTAN1):c.6220C>T (p.Leu2074=)
NM_001130438.3(SPTAN1):c.6223G>A (p.Ala2075Thr)
NM_001130438.3(SPTAN1):c.6225C>T (p.Ala2075=) rs2131954813
NM_001130438.3(SPTAN1):c.6226A>G (p.Asn2076Asp) rs1251099177
NM_001130438.3(SPTAN1):c.6230C>T (p.Ser2077Leu)
NM_001130438.3(SPTAN1):c.6238C>G (p.Arg2080Gly)
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys) rs1564315398
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del) rs1858669268
NM_001130438.3(SPTAN1):c.6253C>A (p.Leu2085Met)
NM_001130438.3(SPTAN1):c.6254T>C (p.Leu2085Pro) rs1564315528
NM_001130438.3(SPTAN1):c.6258G>A (p.Glu2086=)
NM_001130438.3(SPTAN1):c.6260C>G (p.Ala2087Gly)
NM_001130438.3(SPTAN1):c.6262C>G (p.Gln2088Glu)
NM_001130438.3(SPTAN1):c.6275G>T (p.Arg2092Leu)
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.6279+3G>A
NM_001130438.3(SPTAN1):c.6279+4A>G
NM_001130438.3(SPTAN1):c.627C>T (p.Asn209=)
NM_001130438.3(SPTAN1):c.6282G>A (p.Val2094=) rs1554766786
NM_001130438.3(SPTAN1):c.6286G>A (p.Asp2096Asn)
NM_001130438.3(SPTAN1):c.6294C>T (p.Phe2098=)
NM_001130438.3(SPTAN1):c.6304G>A (p.Ala2102Thr)
NM_001130438.3(SPTAN1):c.630G>T (p.Gln210His) rs1851179826
NM_001130438.3(SPTAN1):c.6327C>T (p.Asn2109=) rs1432749648
NM_001130438.3(SPTAN1):c.6338A>T (p.Glu2113Val) rs2131965427
NM_001130438.3(SPTAN1):c.6345A>G (p.Ala2115=) rs1858761394
NM_001130438.3(SPTAN1):c.6347A>C (p.Glu2116Ala) rs2131965544
NM_001130438.3(SPTAN1):c.6366C>T (p.Pro2122=) rs775566979
NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys) rs1193718145
NM_001130438.3(SPTAN1):c.6376A>G (p.Asn2126Asp)
NM_001130438.3(SPTAN1):c.6389A>T (p.Glu2130Val) rs1858765679
NM_001130438.3(SPTAN1):c.6403C>A (p.Arg2135Ser)
NM_001130438.3(SPTAN1):c.6403C>T (p.Arg2135Cys) rs751337586
NM_001130438.3(SPTAN1):c.6406G>A (p.Glu2136Lys)
NM_001130438.3(SPTAN1):c.6406G>C (p.Glu2136Gln) rs755273355
NM_001130438.3(SPTAN1):c.6416A>G (p.Asp2139Gly)
NM_001130438.3(SPTAN1):c.6418G>A (p.Ala2140Thr)
NM_001130438.3(SPTAN1):c.6425G>C (p.Arg2142Pro)
NM_001130438.3(SPTAN1):c.6427T>C (p.Ser2143Pro)
NM_001130438.3(SPTAN1):c.6427T>G (p.Ser2143Ala) rs1356195027
NM_001130438.3(SPTAN1):c.6428C>T (p.Ser2143Phe)
NM_001130438.3(SPTAN1):c.6446A>G (p.Gln2149Arg)
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.6469G>A (p.Glu2157Lys)
NM_001130438.3(SPTAN1):c.6470A>G (p.Glu2157Gly) rs985288328
NM_001130438.3(SPTAN1):c.6478C>T (p.Arg2160Cys) rs780696613
NM_001130438.3(SPTAN1):c.6482A>G (p.Gln2161Arg) rs1858781937
NM_001130438.3(SPTAN1):c.6491G>A (p.Ser2164Asn)
NM_001130438.3(SPTAN1):c.6491G>C (p.Ser2164Thr)
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser) rs1589389281
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.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.6514T>C (p.Tyr2172His)
NM_001130438.3(SPTAN1):c.6516C>T (p.Tyr2172=)
NM_001130438.3(SPTAN1):c.652-9C>A
NM_001130438.3(SPTAN1):c.6524T>A (p.Phe2175Tyr)
NM_001130438.3(SPTAN1):c.6528C>A (p.Thr2176=)
NM_001130438.3(SPTAN1):c.6538C>A (p.Leu2180Met)
NM_001130438.3(SPTAN1):c.6542A>C (p.Glu2181Ala) rs760925342
NM_001130438.3(SPTAN1):c.654G>A (p.Glu218=)
NM_001130438.3(SPTAN1):c.654G>T (p.Glu218Asp)
NM_001130438.3(SPTAN1):c.6553A>G (p.Arg2185Gly) rs2131968714
NM_001130438.3(SPTAN1):c.6557A>G (p.Asn2186Ser)
NM_001130438.3(SPTAN1):c.655C>T (p.Gln219Ter) rs1851359356
NM_001130438.3(SPTAN1):c.6561A>T (p.Leu2187=) rs1482545101
NM_001130438.3(SPTAN1):c.6568A>G (p.Ile2190Val)
NM_001130438.3(SPTAN1):c.656A>G (p.Gln219Arg) rs1851359623
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+4C>T
NM_001130438.3(SPTAN1):c.6576+7C>G rs765667007
NM_001130438.3(SPTAN1):c.6576G>A (p.Lys2192=)
NM_001130438.3(SPTAN1):c.6577-13del
NM_001130438.3(SPTAN1):c.6577-13dup rs761170802
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.6592_6597dup (p.Leu2198_Gln2199dup) rs1589393179
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del) rs398122865
NM_001130438.3(SPTAN1):c.6607C>A (p.Arg2203=) rs759842941
NM_001130438.3(SPTAN1):c.6607C>T (p.Arg2203Trp) rs759842941
NM_001130438.3(SPTAN1):c.6609G>A (p.Arg2203=) rs1300415391
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.6622A>C (p.Asn2208His)
NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del) rs2131985621
NM_001130438.3(SPTAN1):c.6624C>T (p.Asn2208=)
NM_001130438.3(SPTAN1):c.662C>G (p.Pro221Arg)
NM_001130438.3(SPTAN1):c.6634C>T (p.Arg2212Cys) rs1589393382
NM_001130438.3(SPTAN1):c.6661G>A (p.Ala2221Thr) rs1858943245
NM_001130438.3(SPTAN1):c.6673T>A (p.Trp2225Arg)
NM_001130438.3(SPTAN1):c.6689+11G>A
NM_001130438.3(SPTAN1):c.6690-14T>C rs2131994892
NM_001130438.3(SPTAN1):c.6690-17G>A rs1554767335
NM_001130438.3(SPTAN1):c.6690-4A>G rs1465836894
NM_001130438.3(SPTAN1):c.6690-7T>G rs868686679
NM_001130438.3(SPTAN1):c.6691A>G (p.Thr2231Ala)
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+5A>G
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.6754G>T (p.Ala2252Ser) rs1859501262
NM_001130438.3(SPTAN1):c.6756T>G (p.Ala2252=)
NM_001130438.3(SPTAN1):c.6760A>G (p.Lys2254Glu)
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+3A>G
NM_001130438.3(SPTAN1):c.6762+3_6762+6del rs1554768212
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.6763-11del rs1242521066
NM_001130438.3(SPTAN1):c.6763-16C>T
NM_001130438.3(SPTAN1):c.6763-4G>C
NM_001130438.3(SPTAN1):c.6763-6C>A rs543227930
NM_001130438.3(SPTAN1):c.6763-6C>G rs543227930
NM_001130438.3(SPTAN1):c.6763-6del
NM_001130438.3(SPTAN1):c.6777A>C (p.Glu2259Asp) rs1859855635
NM_001130438.3(SPTAN1):c.6778A>G (p.Ile2260Val)
NM_001130438.3(SPTAN1):c.677T>G (p.Ile226Ser)
NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter) rs1859856446
NM_001130438.3(SPTAN1):c.6782G>A (p.Arg2261Gln) rs1859856842
NM_001130438.3(SPTAN1):c.6806A>G (p.Lys2269Arg) rs1859859210
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys) rs1859859572
NM_001130438.3(SPTAN1):c.6816C>A (p.Asp2272Glu)
NM_001130438.3(SPTAN1):c.6826G>T (p.Ala2276Ser) rs375244907
NM_001130438.3(SPTAN1):c.682A>G (p.Thr228Ala)
NM_001130438.3(SPTAN1):c.6841C>A (p.Leu2281Ile) rs1341044436
NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del) rs1589416130
NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del) rs2132088836
NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser) rs1441152520
NM_001130438.3(SPTAN1):c.6863C>T (p.Thr2288Met) rs2132089093
NM_001130438.3(SPTAN1):c.6867G>A (p.Glu2289=)
NM_001130438.3(SPTAN1):c.6873C>T (p.Ser2291=)
NM_001130438.3(SPTAN1):c.6877G>A (p.Val2293Met)
NM_001130438.3(SPTAN1):c.6882C>G (p.Gly2294=)
NM_001130438.3(SPTAN1):c.6882C>T (p.Gly2294=) rs1859868464
NM_001130438.3(SPTAN1):c.6886G>A (p.Ala2296Thr) rs2132089475
NM_001130438.3(SPTAN1):c.6888C>T (p.Ala2296=)
NM_001130438.3(SPTAN1):c.6892C>G (p.Gln2298Glu)
NM_001130438.3(SPTAN1):c.6896_6904del (p.Trp2299_Gln2301del)
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.6902A>T (p.Gln2301Leu) rs1859871133
NM_001130438.3(SPTAN1):c.6903G>A (p.Gln2301=)
NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup) rs2132089818
NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del) rs796053334
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys) rs1554768992
NM_001130438.3(SPTAN1):c.6924_6929dup (p.Met2309_Gln2310insHisMet)
NM_001130438.3(SPTAN1):c.692A>G (p.Asp231Gly) rs2131005873
NM_001130438.3(SPTAN1):c.6937dup (p.Leu2313fs)
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu) rs1554769022
NM_001130438.3(SPTAN1):c.6948G>A (p.Gln2316=)
NM_001130438.3(SPTAN1):c.694G>A (p.Glu232Lys)
NM_001130438.3(SPTAN1):c.6956C>A (p.Ala2319Asp) rs2132090668
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+1G>T
NM_001130438.3(SPTAN1):c.6959+5C>T rs1057523269
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.6960-3C>T
NM_001130438.3(SPTAN1):c.6960G>A (p.Arg2320=) rs1276832919
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.6975_6995delinsTC (p.Thr2326fs)
NM_001130438.3(SPTAN1):c.6979G>A (p.Glu2327Lys) rs2132094752
NM_001130438.3(SPTAN1):c.698_723del (p.Val233fs) rs1554741638
NM_001130438.3(SPTAN1):c.6993dup (p.Glu2332fs) rs1859912470
NM_001130438.3(SPTAN1):c.69A>T (p.Leu23=)
NM_001130438.3(SPTAN1):c.6C>T (p.Asp2=)
NM_001130438.3(SPTAN1):c.7005G>C (p.Met2335Ile)
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu) rs1554769099
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.7014-13C>T
NM_001130438.3(SPTAN1):c.7014-15G>A rs201100247
NM_001130438.3(SPTAN1):c.7014-15G>C
NM_001130438.3(SPTAN1):c.7014-16C>A
NM_001130438.3(SPTAN1):c.7014-5T>G
NM_001130438.3(SPTAN1):c.701A>T (p.Asn234Ile)
NM_001130438.3(SPTAN1):c.7020T>C (p.Phe2340=)
NM_001130438.3(SPTAN1):c.7035T>C (p.Ser2345=) rs2132099422
NM_001130438.3(SPTAN1):c.7040G>C (p.Arg2347Thr) rs1859949028
NM_001130438.3(SPTAN1):c.7044G>A (p.Leu2348=)
NM_001130438.3(SPTAN1):c.7048C>G (p.His2350Asp)
NM_001130438.3(SPTAN1):c.7067G>A (p.Cys2356Tyr)
NM_001130438.3(SPTAN1):c.7072C>T (p.Arg2358Cys) rs772463904
NM_001130438.3(SPTAN1):c.7074C>A (p.Arg2358=) rs771456936
NM_001130438.3(SPTAN1):c.7084T>C (p.Tyr2362His) rs957046231
NM_001130438.3(SPTAN1):c.708C>G (p.Ala236=) rs1004400579
NM_001130438.3(SPTAN1):c.7101G>A (p.Val2367=)
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln) rs796053329
NM_001130438.3(SPTAN1):c.7108G>C (p.Gly2370Arg) rs1257414255
NM_001130438.3(SPTAN1):c.7123G>C (p.Glu2375Gln)
NM_001130438.3(SPTAN1):c.7129G>C (p.Glu2377Gln) rs757162652
NM_001130438.3(SPTAN1):c.7131G>A (p.Glu2377=) rs1177783409
NM_001130438.3(SPTAN1):c.7132G>A (p.Ala2378Thr) rs767301092
NM_001130438.3(SPTAN1):c.7135A>C (p.Ile2379Leu) rs770358940
NM_001130438.3(SPTAN1):c.7141G>A (p.Asp2381Asn) rs1436043063
NM_001130438.3(SPTAN1):c.7149G>A (p.Val2383=)
NM_001130438.3(SPTAN1):c.7154C>A (p.Pro2385Gln)
NM_001130438.3(SPTAN1):c.7154C>T (p.Pro2385Leu)
NM_001130438.3(SPTAN1):c.7160+10T>C rs1859976612
NM_001130438.3(SPTAN1):c.7160+10_7160+13del rs554161838
NM_001130438.3(SPTAN1):c.7160+11T>C
NM_001130438.3(SPTAN1):c.7160+12A>T rs2132102746
NM_001130438.3(SPTAN1):c.7160+4AATT[3]
NM_001130438.3(SPTAN1):c.7160+5_7160+9del rs747442396
NM_001130438.3(SPTAN1):c.7160+5_7160+9dup rs747442396
NM_001130438.3(SPTAN1):c.7160+6T>C rs1218914219
NM_001130438.3(SPTAN1):c.7160+9A>G rs748642362
NM_001130438.3(SPTAN1):c.7161-13C>G
NM_001130438.3(SPTAN1):c.7161-18dup
NM_001130438.3(SPTAN1):c.7161-2_7174del rs2132105386
NM_001130438.3(SPTAN1):c.7161-3T>C
NM_001130438.3(SPTAN1):c.7161-6T>G
NM_001130438.3(SPTAN1):c.7161-8G>T
NM_001130438.3(SPTAN1):c.7161-9C>G rs187613754
NM_001130438.3(SPTAN1):c.7166G>A (p.Gly2389Asp)
NM_001130438.3(SPTAN1):c.716G>A (p.Arg239Gln)
NM_001130438.3(SPTAN1):c.7198A>C (p.Met2400Leu) rs1339856488
NM_001130438.3(SPTAN1):c.7198A>G (p.Met2400Val) rs1339856488
NM_001130438.3(SPTAN1):c.7208G>A (p.Arg2403His) rs1280116999
NM_001130438.3(SPTAN1):c.7210G>A (p.Glu2404Lys)
NM_001130438.3(SPTAN1):c.7221C>T (p.Asn2407=)
NM_001130438.3(SPTAN1):c.7224C>G (p.Val2408=) rs771262997
NM_001130438.3(SPTAN1):c.7225_7228dup (p.Ser2410Ter)
NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe) rs2132106592
NM_001130438.3(SPTAN1):c.7242T>C (p.Ile2414=) rs2132106786
NM_001130438.3(SPTAN1):c.7246A>C (p.Ser2416Arg)
NM_001130438.3(SPTAN1):c.7247G>A (p.Ser2416Asn) rs1445682776
NM_001130438.3(SPTAN1):c.7249G>A (p.Ala2417Thr) rs143739246
NM_001130438.3(SPTAN1):c.7256G>T (p.Arg2419Leu) rs772995493
NM_001130438.3(SPTAN1):c.725G>C (p.Gly242Ala)
NM_001130438.3(SPTAN1):c.7264A>G (p.Ser2422Gly)
NM_001130438.3(SPTAN1):c.7265G>A (p.Ser2422Asn)
NM_001130438.3(SPTAN1):c.7267_7268delinsAA (p.Ser2423Lys) rs1860016560
NM_001130438.3(SPTAN1):c.726C>T (p.Gly242=)
NM_001130438.3(SPTAN1):c.7272G>C (p.Glu2424Asp) rs766229911
NM_001130438.3(SPTAN1):c.7279C>T (p.Pro2427Ser)
NM_001130438.3(SPTAN1):c.7280C>T (p.Pro2427Leu) rs1860019438
NM_001130438.3(SPTAN1):c.7287G>T (p.Val2429=)
NM_001130438.3(SPTAN1):c.7291A>G (p.Lys2431Glu) rs2132107869
NM_001130438.3(SPTAN1):c.7293G>A (p.Lys2431=)
NM_001130438.3(SPTAN1):c.7295A>C (p.Glu2432Ala)
NM_001130438.3(SPTAN1):c.7299G>T (p.Glu2433Asp)
NM_001130438.3(SPTAN1):c.7305C>A (p.Tyr2435Ter) rs527570862
NM_001130438.3(SPTAN1):c.7307_7308+30dup
NM_001130438.3(SPTAN1):c.7307del (p.Gln2436fs) rs1860025750
NM_001130438.3(SPTAN1):c.7308+17G>T
NM_001130438.3(SPTAN1):c.7308+18T>C
NM_001130438.3(SPTAN1):c.7308+9del rs1191675267
NM_001130438.3(SPTAN1):c.7309-12_7309-11del rs770948927
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.7309-7C>G
NM_001130438.3(SPTAN1):c.7309-8C>A
NM_001130438.3(SPTAN1):c.730G>A (p.Ala244Thr)
NM_001130438.3(SPTAN1):c.7314G>A (p.Leu2438=) rs2132117488
NM_001130438.3(SPTAN1):c.7316C>A (p.Thr2439Asn) rs746532292
NM_001130438.3(SPTAN1):c.7324C>A (p.Gln2442Lys) rs2132117718
NM_001130438.3(SPTAN1):c.7334A>G (p.Tyr2445Cys) rs1364724669
NM_001130438.3(SPTAN1):c.7335C>G (p.Tyr2445Ter)
NM_001130438.3(SPTAN1):c.733C>T (p.Leu245=)
NM_001130438.3(SPTAN1):c.7353_7354delinsAA (p.Pro2452Thr)
NM_001130438.3(SPTAN1):c.7355C>T (p.Pro2452Leu)
NM_001130438.3(SPTAN1):c.7357T>C (p.Tyr2453His) rs1589423064
NM_001130438.3(SPTAN1):c.7360G>C (p.Val2454Leu)
NM_001130438.3(SPTAN1):c.7385C>A (p.Pro2462His)
NM_001130438.3(SPTAN1):c.7385C>T (p.Pro2462Leu)
NM_001130438.3(SPTAN1):c.7386C>T (p.Pro2462=)
NM_001130438.3(SPTAN1):c.7391C>A (p.Ala2464Glu)
NM_001130438.3(SPTAN1):c.7396G>C (p.Asp2466His) rs367776636
NM_001130438.3(SPTAN1):c.7398C>T (p.Asp2466=)
NM_001130438.3(SPTAN1):c.73C>T (p.Arg25Ter) rs2132957934
NM_001130438.3(SPTAN1):c.7401C>A (p.Tyr2467Ter)
NM_001130438.3(SPTAN1):c.7406A>C (p.Glu2469Ala) rs1860133867
NM_001130438.3(SPTAN1):c.7407G>A (p.Glu2469=)
NM_001130438.3(SPTAN1):c.7409T>A (p.Phe2470Tyr) rs1860134597
NM_001130438.3(SPTAN1):c.7419G>T (p.Ser2473=) rs375649697
NM_001130438.3(SPTAN1):c.741G>A (p.Arg247=)
NM_001130438.3(SPTAN1):c.7420C>A (p.Leu2474Ile)
NM_001130438.3(SPTAN1):c.7420C>T (p.Leu2474Phe)
NM_001130438.3(SPTAN1):c.746G>A (p.Gly249Glu) rs1851368468
NM_001130438.3(SPTAN1):c.74G>A (p.Arg25Gln) rs1850091477
NM_001130438.3(SPTAN1):c.783C>T (p.Asn261=) rs1265434463
NM_001130438.3(SPTAN1):c.785+19C>A
NM_001130438.3(SPTAN1):c.785+20T>C rs529962403
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.794A>G (p.Asp265Gly)
NM_001130438.3(SPTAN1):c.801T>C (p.Thr267=)
NM_001130438.3(SPTAN1):c.829T>G (p.Leu277Val) rs1851404419
NM_001130438.3(SPTAN1):c.82C>T (p.Arg28Cys) rs1850092105
NM_001130438.3(SPTAN1):c.831A>T (p.Leu277Phe)
NM_001130438.3(SPTAN1):c.835G>A (p.Ala279Thr) rs1300670035
NM_001130438.3(SPTAN1):c.837C>T (p.Ala279=) rs200243332
NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter) rs2131011877
NM_001130438.3(SPTAN1):c.841GAT[1] (p.Asp282del) rs1564211324
NM_001130438.3(SPTAN1):c.846T>C (p.Asp282=)
NM_001130438.3(SPTAN1):c.852C>T (p.Gly284=) rs1454898745
NM_001130438.3(SPTAN1):c.856G>C (p.Asp286His)
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298
NM_001130438.3(SPTAN1):c.868G>A (p.Val290Ile)
NM_001130438.3(SPTAN1):c.877C>G (p.Leu293Val) rs763633945
NM_001130438.3(SPTAN1):c.882T>C (p.Leu294=) rs2131012378
NM_001130438.3(SPTAN1):c.883C>T (p.Arg295Trp)
NM_001130438.3(SPTAN1):c.885G>A (p.Arg295=)
NM_001130438.3(SPTAN1):c.889_896del (p.His297fs) rs2131012464
NM_001130438.3(SPTAN1):c.89A>G (p.Lys30Arg) rs1554735509
NM_001130438.3(SPTAN1):c.903G>T (p.Glu301Asp) rs2131012602
NM_001130438.3(SPTAN1):c.906A>G (p.Arg302=) rs1554741933
NM_001130438.3(SPTAN1):c.909T>G (p.Asp303Glu) rs761676912
NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val) rs2131012797
NM_001130438.3(SPTAN1):c.928A>G (p.Lys310Glu)
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.930+9dup
NM_001130438.3(SPTAN1):c.930G>A (p.Lys310=) rs1851412252
NM_001130438.3(SPTAN1):c.931-15G>A
NM_001130438.3(SPTAN1):c.931G>A (p.Val311Ile)
NM_001130438.3(SPTAN1):c.937G>A (p.Ala313Thr)
NM_001130438.3(SPTAN1):c.937G>C (p.Ala313Pro) rs778408492
NM_001130438.3(SPTAN1):c.939C>G (p.Ala313=)
NM_001130438.3(SPTAN1):c.939C>T (p.Ala313=) rs2131014238
NM_001130438.3(SPTAN1):c.955G>A (p.Asp319Asn)
NM_001130438.3(SPTAN1):c.961C>T (p.Leu321=) rs1589189237
NM_001130438.3(SPTAN1):c.969G>C (p.Gln323His) rs2131014686
NM_001130438.3(SPTAN1):c.96C>G (p.Leu32=) rs1589149611
NM_001130438.3(SPTAN1):c.970T>A (p.Ser324Thr)
NM_001130438.3(SPTAN1):c.980T>C (p.Leu327Pro) rs1851427709
NM_001130438.3(SPTAN1):c.991C>G (p.Gln331Glu)
NM_001130438.3(SPTAN1):c.996T>C (p.Ile332=) rs2131015101
NM_001130438.3:c.(?_1225)_(1572_?)del

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