NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala)
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rs144787939
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0.00217
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NM_001130438.3(SPTAN1):c.3720-5T>G
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rs200543425
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0.00180
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NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly)
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rs143166100
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0.00054
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NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys)
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rs780658554
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0.00004
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NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp)
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rs569997507
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0.00004
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NC_000009.11:g.(?_131360669)_(131367766_?)del
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NC_000009.11:g.(?_131382516)_(131393966_?)del
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NC_000009.12:g.(?_128613381)_(128613485_?)del
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NM_001130438.3(SPTAN1):c.1006C>T (p.Arg336Ter)
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NM_001130438.3(SPTAN1):c.1339G>T (p.Glu447Ter)
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NM_001130438.3(SPTAN1):c.133C>T (p.Arg45Ter)
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rs1484319243
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NM_001130438.3(SPTAN1):c.1367G>A (p.Trp456Ter)
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rs2131088567
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NM_001130438.3(SPTAN1):c.1642C>T (p.Arg548Ter)
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NM_001130438.3(SPTAN1):c.1773_1774del (p.Lys592fs)
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rs1852112548
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NM_001130438.3(SPTAN1):c.1834C>T (p.Gln612Ter)
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rs1852152679
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NM_001130438.3(SPTAN1):c.2860del (p.Gln954fs)
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rs2131239154
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NM_001130438.3(SPTAN1):c.2961del (p.Thr987_Met988insTer)
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rs1853049371
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NM_001130438.3(SPTAN1):c.2988dup (p.Leu997fs)
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rs2131267665
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NM_001130438.3(SPTAN1):c.315_316insA (p.Gly106fs)
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NM_001130438.3(SPTAN1):c.3251_3252del (p.Lys1084fs)
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rs2131360489
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NM_001130438.3(SPTAN1):c.3279del (p.Lys1093fs)
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rs1853919580
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NM_001130438.3(SPTAN1):c.3292del (p.Arg1098fs)
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NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter)
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rs1851109762
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NM_001130438.3(SPTAN1):c.4343A>C (p.Gln1448Pro)
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rs1856116625
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NM_001130438.3(SPTAN1):c.4390C>T (p.Arg1464Trp)
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rs1489830382
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NM_001130438.3(SPTAN1):c.4615C>T (p.Gln1539Ter)
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NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr)
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rs1564286708
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NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)
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rs1131691643
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NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser)
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rs1554759745
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NM_001130438.3(SPTAN1):c.4936C>T (p.Gln1646Ter)
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rs1856640613
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NM_001130438.3(SPTAN1):c.5425A>T (p.Lys1809Ter)
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NM_001130438.3(SPTAN1):c.5531_5532del (p.Glu1844fs)
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NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp)
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rs748232676
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NM_001130438.3(SPTAN1):c.58dup (p.Gln20fs)
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NM_001130438.3(SPTAN1):c.6019_6020del (p.Thr2006_Asp2007insTer)
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NM_001130438.3(SPTAN1):c.6100C>T (p.Gln2034Ter)
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rs2131952314
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NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp)
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rs2131953982
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NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)
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rs1858669268
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NM_001130438.3(SPTAN1):c.6367del (p.Val2123fs)
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NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del)
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rs398122865
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NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
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rs587784438
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NM_001130438.3(SPTAN1):c.6781C>T (p.Arg2261Ter)
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rs1859856446
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NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)
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rs1859859572
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NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser)
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rs1441152520
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NM_001130438.3(SPTAN1):c.6896_6904del (p.Trp2299_Gln2301del)
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NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])
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rs587784440
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NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
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rs587784440
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NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup)
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rs2132089818
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NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)
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rs796053335
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NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys)
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rs1554768992
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NM_001130438.3(SPTAN1):c.6924_6929dup (p.Met2309_Gln2310insHisMet)
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NM_001130438.3(SPTAN1):c.6937dup (p.Leu2313fs)
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NM_001130438.3(SPTAN1):c.6956C>A (p.Ala2319Asp)
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rs2132090668
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NM_001130438.3(SPTAN1):c.6975_6995delinsTC (p.Thr2326fs)
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NM_001130438.3(SPTAN1):c.698_723del (p.Val233fs)
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rs1554741638
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NM_001130438.3(SPTAN1):c.6993dup (p.Glu2332fs)
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rs1859912470
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NM_001130438.3(SPTAN1):c.7225_7228dup (p.Ser2410Ter)
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NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe)
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rs2132106592
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NM_001130438.3(SPTAN1):c.889_896del (p.His297fs)
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rs2131012464
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NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val)
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rs2131012797
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NM_001130438.3:c.(?_1225)_(1572_?)del
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