ClinVar Miner

List of variants in gene SPTAN1 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 807
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu) rs139113273 0.00012
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr) rs1427892796 0.00011
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln) rs745697305 0.00010
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser) rs2227863 0.00009
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801 0.00009
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser) rs752578570 0.00009
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp) rs374682395 0.00008
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398 0.00008
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys) rs920545433 0.00007
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr) rs766491965 0.00006
NM_001130438.3(SPTAN1):c.4046G>A (p.Arg1349Gln) rs149367932 0.00006
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616 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.2221G>T (p.Ala741Ser) rs200241514 0.00005
NM_001130438.3(SPTAN1):c.1274A>G (p.Gln425Arg) rs11792065 0.00004
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951 0.00004
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys) rs780658554 0.00004
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser) rs552623597 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.6496C>T (p.Arg2166Cys) rs775190610 0.00004
NM_001130438.3(SPTAN1):c.7309-3C>A rs777355476 0.00004
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.1936A>G (p.Lys646Glu) rs903037131 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.2572G>T (p.Ala858Ser) rs1185428521 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.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.497A>G (p.Asn166Ser) rs139943747 0.00003
NM_001130438.3(SPTAN1):c.5308C>T (p.Arg1770Cys) rs371055930 0.00003
NM_001130438.3(SPTAN1):c.6497G>A (p.Arg2166His) rs200834733 0.00003
NM_001130438.3(SPTAN1):c.6959+4C>T rs902275859 0.00003
NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile) rs1057520841 0.00003
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys) rs200531434 0.00003
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His) rs796053314 0.00002
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631 0.00002
NM_001130438.3(SPTAN1):c.134G>A (p.Arg45Gln) rs760552878 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.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.2696C>G (p.Ala899Gly) rs745746027 0.00002
NM_001130438.3(SPTAN1):c.2720G>T (p.Arg907Leu) rs780303413 0.00002
NM_001130438.3(SPTAN1):c.3641G>A (p.Arg1214His) rs780184944 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.4525G>A (p.Asp1509Asn) rs757714696 0.00002
NM_001130438.3(SPTAN1):c.4564A>G (p.Ile1522Val) rs764323424 0.00002
NM_001130438.3(SPTAN1):c.4758+3A>C rs774108521 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.511A>G (p.Ile171Val) rs771906889 0.00002
NM_001130438.3(SPTAN1):c.5269A>G (p.Met1757Val) rs141483578 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.5685G>A (p.Met1895Ile) rs973076703 0.00002
NM_001130438.3(SPTAN1):c.6053C>T (p.Thr2018Met) rs904934847 0.00002
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507 0.00002
NM_001130438.3(SPTAN1):c.6503C>T (p.Ala2168Val) rs767399516 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.1039C>T (p.Arg347Cys) rs754066930 0.00001
NM_001130438.3(SPTAN1):c.1049C>T (p.Ala350Val) rs765337732 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.1306G>A (p.Asp436Asn) rs929796374 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.1462G>A (p.Ala488Thr) rs972504988 0.00001
NM_001130438.3(SPTAN1):c.1534T>G (p.Phe512Val) rs147444364 0.00001
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val) rs796053315 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.1696C>T (p.Arg566Trp) rs773019990 0.00001
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886 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.1824A>G (p.Gln608=) rs1057523726 0.00001
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr) rs1564224960 0.00001
NM_001130438.3(SPTAN1):c.1955G>A (p.Arg652His) rs370062384 0.00001
NM_001130438.3(SPTAN1):c.2024G>A (p.Arg675His) rs748338558 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.2395T>C (p.Trp799Arg) rs1852325939 0.00001
NM_001130438.3(SPTAN1):c.2450T>C (p.Ile817Thr) rs1060503490 0.00001
NM_001130438.3(SPTAN1):c.2557G>A (p.Glu853Lys) rs771925044 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.2838C>G (p.Ile946Met) rs943636575 0.00001
NM_001130438.3(SPTAN1):c.2869C>T (p.Arg957Trp) rs781689993 0.00001
NM_001130438.3(SPTAN1):c.3050C>T (p.Pro1017Leu) rs370748662 0.00001
NM_001130438.3(SPTAN1):c.3083A>G (p.Gln1028Arg) rs768500975 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.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.3193C>T (p.Arg1065Cys) rs587784436 0.00001
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His) rs199561983 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.3561G>T (p.Lys1187Asn) rs950316530 0.00001
NM_001130438.3(SPTAN1):c.356C>T (p.Thr119Ile) rs1850338993 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.362G>T (p.Arg121Leu) rs942861981 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.3785G>A (p.Gly1262Glu) rs901228960 0.00001
NM_001130438.3(SPTAN1):c.3788A>G (p.His1263Arg) rs1322144803 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.386G>A (p.Arg129His) rs774397953 0.00001
NM_001130438.3(SPTAN1):c.3965G>A (p.Ser1322Asn) rs756084170 0.00001
NM_001130438.3(SPTAN1):c.4027C>A (p.Arg1343Ser) rs138827421 0.00001
NM_001130438.3(SPTAN1):c.4058C>G (p.Ser1353Cys) rs1564278853 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.4225G>A (p.Gly1409Arg) rs746913959 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.4672C>T (p.Arg1558Trp) rs750465466 0.00001
NM_001130438.3(SPTAN1):c.4915G>A (p.Ala1639Thr) rs371679323 0.00001
NM_001130438.3(SPTAN1):c.5039C>G (p.Ser1680Cys) rs1251494639 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.5263A>C (p.Lys1755Gln) rs1857087048 0.00001
NM_001130438.3(SPTAN1):c.5276C>T (p.Ala1759Val) rs368402085 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.5433C>G (p.His1811Gln) rs772382171 0.00001
NM_001130438.3(SPTAN1):c.5479G>A (p.Gly1827Ser) rs1287628912 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.5546G>A (p.Arg1849Gln) rs760298084 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.5791G>A (p.Val1931Met) rs371687713 0.00001
NM_001130438.3(SPTAN1):c.586A>G (p.Thr196Ala) rs940919276 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.593T>C (p.Met198Thr) rs924110992 0.00001
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg) rs754276364 0.00001
NM_001130438.3(SPTAN1):c.6113T>C (p.Ile2038Thr) rs1227328885 0.00001
NM_001130438.3(SPTAN1):c.6141G>T (p.Gln2047His) rs1244126171 0.00001
NM_001130438.3(SPTAN1):c.6148G>A (p.Ala2050Thr) rs762645157 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.6274C>T (p.Arg2092Cys) rs771651648 0.00001
NM_001130438.3(SPTAN1):c.6279+4A>T rs1274186786 0.00001
NM_001130438.3(SPTAN1):c.6371G>A (p.Arg2124His) rs763928650 0.00001
NM_001130438.3(SPTAN1):c.6425G>A (p.Arg2142His) rs796053324 0.00001
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu) rs756290749 0.00001
NM_001130438.3(SPTAN1):c.6728C>T (p.Ser2243Leu) rs769859369 0.00001
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His) rs201693154 0.00001
NM_001130438.3(SPTAN1):c.6959+5C>G rs1057523269 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.7207C>T (p.Arg2403Cys) rs1285764786 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.7285G>A (p.Val2429Met) rs1344858192 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.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.7414C>T (p.Arg2472Cys) rs759975874 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+5C>T rs776310053 0.00001
NM_001130438.3(SPTAN1):c.83G>A (p.Arg28His) rs747510615 0.00001
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys) rs794727910 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.(?_131362339)_(131362414_?)del
NM_001130438.3(SPTAN1):c.1000G>A (p.Val334Met)
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.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.1076A>G (p.Asp359Gly) rs748881611
NM_001130438.3(SPTAN1):c.1085+6A>C rs1060503488
NM_001130438.3(SPTAN1):c.1085+6A>G rs1060503488
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.1121C>A (p.Thr374Asn)
NM_001130438.3(SPTAN1):c.1142A>G (p.Lys381Arg) rs2131029556
NM_001130438.3(SPTAN1):c.1172G>A (p.Ser391Asn)
NM_001130438.3(SPTAN1):c.1180G>T (p.Ala394Ser)
NM_001130438.3(SPTAN1):c.1189G>A (p.Glu397Lys) rs1589192271
NM_001130438.3(SPTAN1):c.1217A>G (p.His406Arg)
NM_001130438.3(SPTAN1):c.1221+11C>G rs113357847
NM_001130438.3(SPTAN1):c.1256C>T (p.Ser419Phe)
NM_001130438.3(SPTAN1):c.1298A>G (p.Tyr433Cys)
NM_001130438.3(SPTAN1):c.1300G>T (p.Ala434Ser)
NM_001130438.3(SPTAN1):c.130T>C (p.Tyr44His)
NM_001130438.3(SPTAN1):c.1323+3A>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.1349C>T (p.Ala450Val)
NM_001130438.3(SPTAN1):c.1352C>T (p.Ala451Val) rs149336930
NM_001130438.3(SPTAN1):c.1378A>G (p.Arg460Gly)
NM_001130438.3(SPTAN1):c.1384C>A (p.Gln462Lys)
NM_001130438.3(SPTAN1):c.1390G>A (p.Glu464Lys)
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.1451G>A (p.Ser484Asn) rs1851879535
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.1473G>C (p.Leu491Phe)
NM_001130438.3(SPTAN1):c.1492T>C (p.Ser498Pro)
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.1552G>A (p.Ala518Thr)
NM_001130438.3(SPTAN1):c.1572+5G>C rs1851989537
NM_001130438.3(SPTAN1):c.1589C>G (p.Ala530Gly)
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.1649C>T (p.Ala550Val) rs1297146654
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.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.1663C>T (p.Arg555Cys)
NM_001130438.3(SPTAN1):c.1678G>A (p.Glu560Lys)
NM_001130438.3(SPTAN1):c.1694G>A (p.Arg565His)
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.1779G>A (p.Met593Ile)
NM_001130438.3(SPTAN1):c.1798G>A (p.Ala600Thr) rs2131131343
NM_001130438.3(SPTAN1):c.1807-3C>T rs571532593
NM_001130438.3(SPTAN1):c.1856C>A (p.Ala619Asp) rs772608327
NM_001130438.3(SPTAN1):c.1864T>C (p.Ser622Pro)
NM_001130438.3(SPTAN1):c.1868C>G (p.Ala623Gly)
NM_001130438.3(SPTAN1):c.1894G>A (p.Glu632Lys)
NM_001130438.3(SPTAN1):c.1895A>G (p.Glu632Gly)
NM_001130438.3(SPTAN1):c.190C>T (p.Leu64Phe) rs1589149870
NM_001130438.3(SPTAN1):c.1927C>T (p.His643Tyr)
NM_001130438.3(SPTAN1):c.1945G>A (p.Val649Met)
NM_001130438.3(SPTAN1):c.1948G>A (p.Ala650Thr)
NM_001130438.3(SPTAN1):c.1972A>G (p.Ser658Gly)
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.2065G>A (p.Asp689Asn)
NM_001130438.3(SPTAN1):c.2069T>C (p.Ile690Thr)
NM_001130438.3(SPTAN1):c.2087_2089del (p.Glu696del) rs2131151927
NM_001130438.3(SPTAN1):c.2089G>A (p.Val697Ile)
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.2154G>T (p.Lys718Asn)
NM_001130438.3(SPTAN1):c.2193+5T>C
NM_001130438.3(SPTAN1):c.2193+6G>A rs751573290
NM_001130438.3(SPTAN1):c.2194G>A (p.Asp732Asn) rs2131160403
NM_001130438.3(SPTAN1):c.2197C>A (p.Arg733=)
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.2238T>A (p.Asp746Glu)
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.2294G>A (p.Arg765His)
NM_001130438.3(SPTAN1):c.2297A>G (p.Tyr766Cys)
NM_001130438.3(SPTAN1):c.2302G>T (p.Ala768Ser)
NM_001130438.3(SPTAN1):c.2309A>G (p.Lys770Arg)
NM_001130438.3(SPTAN1):c.2330A>G (p.Lys777Arg) rs2131163322
NM_001130438.3(SPTAN1):c.2341G>A (p.Ala781Thr)
NM_001130438.3(SPTAN1):c.2348C>A (p.Ser783Tyr)
NM_001130438.3(SPTAN1):c.2353C>T (p.Arg785Trp) rs1253697977
NM_001130438.3(SPTAN1):c.2357T>C (p.Leu786Ser)
NM_001130438.3(SPTAN1):c.238-8G>T
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.2428A>G (p.Thr810Ala)
NM_001130438.3(SPTAN1):c.2432A>G (p.Asn811Ser)
NM_001130438.3(SPTAN1):c.2437+18A>T
NM_001130438.3(SPTAN1):c.2437+5G>A
NM_001130438.3(SPTAN1):c.2483C>T (p.Ala828Val)
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.2521A>G (p.Lys841Glu) rs2131170781
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg) rs1564229501
NM_001130438.3(SPTAN1):c.2548A>G (p.Met850Val) rs371776794
NM_001130438.3(SPTAN1):c.2563C>T (p.His855Tyr)
NM_001130438.3(SPTAN1):c.2581G>A (p.Val861Met)
NM_001130438.3(SPTAN1):c.2591A>G (p.Lys864Arg)
NM_001130438.3(SPTAN1):c.2606A>G (p.Asn869Ser)
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.2666C>G (p.Ser889Cys) rs886043660
NM_001130438.3(SPTAN1):c.2666_2686dup (p.Tyr895_Phe896insSerLeuGlnAlaGlnGlnTyr)
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.2746A>G (p.Thr916Ala) rs1064797353
NM_001130438.3(SPTAN1):c.2764G>A (p.Glu922Lys) rs2131196507
NM_001130438.3(SPTAN1):c.2778+10C>T
NM_001130438.3(SPTAN1):c.2778+5C>G rs2131196835
NM_001130438.3(SPTAN1):c.2797G>A (p.Glu933Lys)
NM_001130438.3(SPTAN1):c.2806A>G (p.Met936Val)
NM_001130438.3(SPTAN1):c.2827G>A (p.Gly943Ser)
NM_001130438.3(SPTAN1):c.2861A>C (p.Gln954Pro) rs796053301
NM_001130438.3(SPTAN1):c.2902G>C (p.Gly968Arg) rs2131266449
NM_001130438.3(SPTAN1):c.2914G>A (p.Val972Ile)
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.298G>A (p.Val100Ile)
NM_001130438.3(SPTAN1):c.3006+6G>A rs2131267970
NM_001130438.3(SPTAN1):c.3006+7C>T
NM_001130438.3(SPTAN1):c.3030C>A (p.Asn1010Lys)
NM_001130438.3(SPTAN1):c.3034C>G (p.Arg1012Gly)
NM_001130438.3(SPTAN1):c.3056C>T (p.Ala1019Val) rs1349058117
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.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.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+6G>A
NM_001130438.3(SPTAN1):c.3156-6G>T
NM_001130438.3(SPTAN1):c.3161G>C (p.Arg1054Pro)
NM_001130438.3(SPTAN1):c.3167C>T (p.Thr1056Ile) rs1428641675
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.322C>G (p.Leu108Val) rs2130860508
NM_001130438.3(SPTAN1):c.3247C>T (p.Arg1083Cys) rs750290385
NM_001130438.3(SPTAN1):c.3253G>A (p.Gly1085Ser)
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.3293G>A (p.Arg1098His) rs1853921006
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.3365A>G (p.Asp1122Gly)
NM_001130438.3(SPTAN1):c.3415-11T>C
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.3491C>T (p.Ala1164Val)
NM_001130438.3(SPTAN1):c.3523G>A (p.Val1175Met)
NM_001130438.3(SPTAN1):c.3523G>C (p.Val1175Leu)
NM_001130438.3(SPTAN1):c.3530G>A (p.Gly1177Asp)
NM_001130438.3(SPTAN1):c.3530G>T (p.Gly1177Val)
NM_001130438.3(SPTAN1):c.3538C>T (p.Pro1180Ser) rs1554754141
NM_001130438.3(SPTAN1):c.3542G>T (p.Arg1181Met)
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.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.3574T>C (p.Trp1192Arg) rs796053305
NM_001130438.3(SPTAN1):c.3579+3A>G
NM_001130438.3(SPTAN1):c.3579+5_3579+8del
NM_001130438.3(SPTAN1):c.3579G>A (p.Lys1193=)
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.361C>T (p.Arg121Trp) rs1376670407
NM_001130438.3(SPTAN1):c.3623T>C (p.Ile1208Thr)
NM_001130438.3(SPTAN1):c.3627+20_3627+21delinsAG
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.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.3664G>T (p.Ala1222Ser) rs796053306
NM_001130438.3(SPTAN1):c.3719+5G>C
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.3776A>G (p.Asp1259Gly) rs1229172232
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
NM_001130438.3(SPTAN1):c.3864+6A>G
NM_001130438.3(SPTAN1):c.3872C>T (p.Ser1291Phe)
NM_001130438.3(SPTAN1):c.3877G>T (p.Gly1293Cys)
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.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.4009G>A (p.Asp1337Asn)
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.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.4146+3G>A rs990426186
NM_001130438.3(SPTAN1):c.4146+4G>C rs1856067067
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.4164C>G (p.Ile1388Met) rs759713935
NM_001130438.3(SPTAN1):c.4184T>C (p.Phe1395Ser) rs1239390443
NM_001130438.3(SPTAN1):c.4201T>A (p.Phe1401Ile)
NM_001130438.3(SPTAN1):c.4205G>A (p.Gly1402Glu)
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.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.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.4344+5G>C
NM_001130438.3(SPTAN1):c.4344+6T>C rs2131618659
NM_001130438.3(SPTAN1):c.4345-3T>C
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.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.4460A>G (p.His1487Arg) rs1589311413
NM_001130438.3(SPTAN1):c.4478C>T (p.Ala1493Val) rs2131621179
NM_001130438.3(SPTAN1):c.447G>T (p.Gln149His)
NM_001130438.3(SPTAN1):c.4486G>A (p.Val1496Ile)
NM_001130438.3(SPTAN1):c.4490A>C (p.Gln1497Pro) rs1856150338
NM_001130438.3(SPTAN1):c.4514A>T (p.Gln1505Leu) rs2131630842
NM_001130438.3(SPTAN1):c.451T>A (p.Leu151Met) rs2130966073
NM_001130438.3(SPTAN1):c.4526A>G (p.Asp1509Gly)
NM_001130438.3(SPTAN1):c.4535T>A (p.Ile1512Asn)
NM_001130438.3(SPTAN1):c.4537G>A (p.Ala1513Thr)
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.4556A>G (p.Lys1519Arg)
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.4596-17T>A
NM_001130438.3(SPTAN1):c.4615C>G (p.Gln1539Glu) rs2131635386
NM_001130438.3(SPTAN1):c.4622T>C (p.Ile1541Thr)
NM_001130438.3(SPTAN1):c.4655C>G (p.Thr1552Ser)
NM_001130438.3(SPTAN1):c.4678G>A (p.Val1560Met) rs1856292384
NM_001130438.3(SPTAN1):c.4700T>G (p.Ile1567Ser)
NM_001130438.3(SPTAN1):c.470A>G (p.Glu157Gly)
NM_001130438.3(SPTAN1):c.472T>C (p.Cys158Arg)
NM_001130438.3(SPTAN1):c.4733C>T (p.Ser1578Leu) rs756887707
NM_001130438.3(SPTAN1):c.4747A>C (p.Thr1583Pro) rs1856299526
NM_001130438.3(SPTAN1):c.4814A>G (p.His1605Arg)
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.4846G>A (p.Asp1616Asn)
NM_001130438.3(SPTAN1):c.4849A>G (p.Met1617Val)
NM_001130438.3(SPTAN1):c.4885G>A (p.Gly1629Ser)
NM_001130438.3(SPTAN1):c.4887C>T (p.Gly1629=) rs1057522726
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.4941C>A (p.Phe1647Leu)
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu) rs374723711
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro) rs1589327320
NM_001130438.3(SPTAN1):c.5038T>G (p.Ser1680Ala) rs1856647848
NM_001130438.3(SPTAN1):c.5043+4A>C rs745921302
NM_001130438.3(SPTAN1):c.5043+5C>A
NM_001130438.3(SPTAN1):c.505-4A>G rs377129746
NM_001130438.3(SPTAN1):c.5090C>T (p.Ser1697Phe)
NM_001130438.3(SPTAN1):c.5114A>C (p.His1705Pro)
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.5140G>A (p.Ala1714Thr) rs1856789445
NM_001130438.3(SPTAN1):c.5140G>T (p.Ala1714Ser)
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.5195G>T (p.Ser1732Ile) rs751640888
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.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.5341G>A (p.Glu1781Lys) rs368949860
NM_001130438.3(SPTAN1):c.535C>A (p.Gln179Lys) rs1589179268
NM_001130438.3(SPTAN1):c.5410G>A (p.Val1804Met)
NM_001130438.3(SPTAN1):c.5431C>T (p.His1811Tyr)
NM_001130438.3(SPTAN1):c.5437C>T (p.Arg1813Trp) rs3750333
NM_001130438.3(SPTAN1):c.5453T>A (p.Leu1818Gln)
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr) rs796053320
NM_001130438.3(SPTAN1):c.5473A>G (p.Ile1825Val)
NM_001130438.3(SPTAN1):c.5479-3C>T rs1464939078
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.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.5530G>C (p.Glu1844Gln)
NM_001130438.3(SPTAN1):c.5560G>T (p.Val1854Leu) rs752677999
NM_001130438.3(SPTAN1):c.5576A>C (p.Glu1859Ala)
NM_001130438.3(SPTAN1):c.5576A>G (p.Glu1859Gly) rs2131800107
NM_001130438.3(SPTAN1):c.5594C>A (p.Ala1865Asp) rs1589354582
NM_001130438.3(SPTAN1):c.5602G>T (p.Gly1868Cys) rs2131816719
NM_001130438.3(SPTAN1):c.5609G>A (p.Arg1870Gln) rs1857510980
NM_001130438.3(SPTAN1):c.5674A>C (p.Asn1892His)
NM_001130438.3(SPTAN1):c.5679G>T (p.Glu1893Asp) rs1857518094
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.5717C>G (p.Thr1906Ser)
NM_001130438.3(SPTAN1):c.5725G>A (p.Ala1909Thr)
NM_001130438.3(SPTAN1):c.5733+3G>A
NM_001130438.3(SPTAN1):c.5763G>T (p.Glu1921Asp)
NM_001130438.3(SPTAN1):c.5788C>T (p.Arg1930Cys) rs267602137
NM_001130438.3(SPTAN1):c.5818G>C (p.Asp1940His)
NM_001130438.3(SPTAN1):c.5832+3G>A rs1368511172
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.5891C>T (p.Ser1964Leu)
NM_001130438.3(SPTAN1):c.5899G>C (p.Glu1967Gln) rs1858419335
NM_001130438.3(SPTAN1):c.5915A>G (p.Gln1972Arg)
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.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.5984C>T (p.Ser1995Phe)
NM_001130438.3(SPTAN1):c.5991C>T (p.Ile1997=)
NM_001130438.3(SPTAN1):c.6067C>G (p.Gln2023Glu)
NM_001130438.3(SPTAN1):c.6070-3C>G rs1858641214
NM_001130438.3(SPTAN1):c.6088C>T (p.Leu2030=)
NM_001130438.3(SPTAN1):c.6093G>T (p.Gln2031His)
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.6155A>G (p.Lys2052Arg) rs2131953509
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.617A>T (p.Asn206Ile) rs752726486
NM_001130438.3(SPTAN1):c.6187C>T (p.His2063Tyr)
NM_001130438.3(SPTAN1):c.6191C>T (p.Ala2064Val)
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.6223G>A (p.Ala2075Thr)
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.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.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+3G>A
NM_001130438.3(SPTAN1):c.6279+4A>G
NM_001130438.3(SPTAN1):c.6282G>A (p.Val2094=) rs1554766786
NM_001130438.3(SPTAN1):c.6286G>A (p.Asp2096Asn)
NM_001130438.3(SPTAN1):c.6304G>A (p.Ala2102Thr)
NM_001130438.3(SPTAN1):c.630G>T (p.Gln210His) rs1851179826
NM_001130438.3(SPTAN1):c.6347A>C (p.Glu2116Ala) rs2131965544
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.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.6428C>T (p.Ser2143Phe)
NM_001130438.3(SPTAN1):c.6446A>G (p.Gln2149Arg)
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.6514T>C (p.Tyr2172His)
NM_001130438.3(SPTAN1):c.6524T>A (p.Phe2175Tyr)
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>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.6568A>G (p.Ile2190Val)
NM_001130438.3(SPTAN1):c.6576+4C>T
NM_001130438.3(SPTAN1):c.6576G>A (p.Lys2192=)
NM_001130438.3(SPTAN1):c.6607C>T (p.Arg2203Trp) rs759842941
NM_001130438.3(SPTAN1):c.6622A>C (p.Asn2208His)
NM_001130438.3(SPTAN1):c.662C>G (p.Pro221Arg)
NM_001130438.3(SPTAN1):c.6634C>T (p.Arg2212Cys) rs1589393382
NM_001130438.3(SPTAN1):c.6673T>A (p.Trp2225Arg)
NM_001130438.3(SPTAN1):c.6691A>G (p.Thr2231Ala)
NM_001130438.3(SPTAN1):c.6707+5A>G
NM_001130438.3(SPTAN1):c.6754G>T (p.Ala2252Ser) rs1859501262
NM_001130438.3(SPTAN1):c.6760A>G (p.Lys2254Glu)
NM_001130438.3(SPTAN1):c.6762+3A>G
NM_001130438.3(SPTAN1):c.6762+3_6762+6del rs1554768212
NM_001130438.3(SPTAN1):c.6778A>G (p.Ile2260Val)
NM_001130438.3(SPTAN1):c.677T>G (p.Ile226Ser)
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.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.6863C>T (p.Thr2288Met) rs2132089093
NM_001130438.3(SPTAN1):c.6877G>A (p.Val2293Met)
NM_001130438.3(SPTAN1):c.6886G>A (p.Ala2296Thr) rs2132089475
NM_001130438.3(SPTAN1):c.6892C>G (p.Gln2298Glu)
NM_001130438.3(SPTAN1):c.6902A>T (p.Gln2301Leu) rs1859871133
NM_001130438.3(SPTAN1):c.692A>G (p.Asp231Gly) rs2131005873
NM_001130438.3(SPTAN1):c.694G>A (p.Glu232Lys)
NM_001130438.3(SPTAN1):c.6959+5C>T rs1057523269
NM_001130438.3(SPTAN1):c.6960-3C>T
NM_001130438.3(SPTAN1):c.6960G>A (p.Arg2320=) rs1276832919
NM_001130438.3(SPTAN1):c.7005G>C (p.Met2335Ile)
NM_001130438.3(SPTAN1):c.701A>T (p.Asn234Ile)
NM_001130438.3(SPTAN1):c.7040G>C (p.Arg2347Thr) rs1859949028
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.7084T>C (p.Tyr2362His) rs957046231
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.7132G>A (p.Ala2378Thr) rs767301092
NM_001130438.3(SPTAN1):c.7141G>A (p.Asp2381Asn) rs1436043063
NM_001130438.3(SPTAN1):c.7154C>A (p.Pro2385Gln)
NM_001130438.3(SPTAN1):c.7154C>T (p.Pro2385Leu)
NM_001130438.3(SPTAN1):c.7160+4AATT[3]
NM_001130438.3(SPTAN1):c.7160+5_7160+9del rs747442396
NM_001130438.3(SPTAN1):c.7161-13C>G
NM_001130438.3(SPTAN1):c.7161-3T>C
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.7208G>A (p.Arg2403His) rs1280116999
NM_001130438.3(SPTAN1):c.7210G>A (p.Glu2404Lys)
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.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.7291A>G (p.Lys2431Glu) rs2132107869
NM_001130438.3(SPTAN1):c.7295A>C (p.Glu2432Ala)
NM_001130438.3(SPTAN1):c.7299G>T (p.Glu2433Asp)
NM_001130438.3(SPTAN1):c.7307_7308+30dup
NM_001130438.3(SPTAN1):c.7308+17G>T
NM_001130438.3(SPTAN1):c.7309-7C>G
NM_001130438.3(SPTAN1):c.730G>A (p.Ala244Thr)
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.7335C>G (p.Tyr2445Ter)
NM_001130438.3(SPTAN1):c.7353_7354delinsAA (p.Pro2452Thr)
NM_001130438.3(SPTAN1):c.7355C>T (p.Pro2452Leu)
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.7391C>A (p.Ala2464Glu)
NM_001130438.3(SPTAN1):c.7401C>A (p.Tyr2467Ter)
NM_001130438.3(SPTAN1):c.7406A>C (p.Glu2469Ala) rs1860133867
NM_001130438.3(SPTAN1):c.7409T>A (p.Phe2470Tyr) rs1860134597
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.794A>G (p.Asp265Gly)
NM_001130438.3(SPTAN1):c.829T>G (p.Leu277Val) rs1851404419
NM_001130438.3(SPTAN1):c.831A>T (p.Leu277Phe)
NM_001130438.3(SPTAN1):c.835G>A (p.Ala279Thr) rs1300670035
NM_001130438.3(SPTAN1):c.841GAT[1] (p.Asp282del) rs1564211324
NM_001130438.3(SPTAN1):c.856G>C (p.Asp286His)
NM_001130438.3(SPTAN1):c.868G>A (p.Val290Ile)
NM_001130438.3(SPTAN1):c.877C>G (p.Leu293Val) rs763633945
NM_001130438.3(SPTAN1):c.883C>T (p.Arg295Trp)
NM_001130438.3(SPTAN1):c.903G>T (p.Glu301Asp) rs2131012602
NM_001130438.3(SPTAN1):c.909T>G (p.Asp303Glu) rs761676912
NM_001130438.3(SPTAN1):c.928A>G (p.Lys310Glu)
NM_001130438.3(SPTAN1):c.930G>A (p.Lys310=) rs1851412252
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.955G>A (p.Asp319Asn)
NM_001130438.3(SPTAN1):c.969G>C (p.Gln323His) rs2131014686
NM_001130438.3(SPTAN1):c.970T>A (p.Ser324Thr)
NM_001130438.3(SPTAN1):c.991C>G (p.Gln331Glu)

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