NM_000368.5(TSC1):c.2626G>T (p.Glu876Ter)
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rs747602915
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0.00002
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GRCh37/hg19 9q34.13(chr9:135771359-135821093)x1
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NM_000368.5(TSC1):c.107-1G>A
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rs1064793494
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NM_000368.5(TSC1):c.1152del (p.Gly385fs)
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rs118203501
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NM_000368.5(TSC1):c.1157del (p.Thr386fs)
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rs1554817164
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NM_000368.5(TSC1):c.1162_1163del (p.Leu388fs)
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rs1064793844
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NM_000368.5(TSC1):c.1165G>T (p.Gly389Ter)
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rs886041524
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NM_000368.5(TSC1):c.116_119dup (p.Met40fs)
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rs1588359822
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NM_000368.5(TSC1):c.1200_1201del (p.Cys401fs)
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rs1554817140
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NM_000368.5(TSC1):c.1237del (p.Gln413fs)
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rs1588321344
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NM_000368.5(TSC1):c.134T>A (p.Leu45Ter)
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rs1554820662
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NM_000368.5(TSC1):c.1367dup (p.Ser457fs)
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rs1554816245
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NM_000368.5(TSC1):c.1388del (p.Phe462_Leu463insTer)
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rs1064796237
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NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)
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rs118203527
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NM_000368.5(TSC1):c.1441del (p.Ala481fs)
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rs796053466
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NM_000368.5(TSC1):c.1443_1445delinsC (p.Ile482_Ser483insTer)
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rs1064793693
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NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)
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rs118203537
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NM_000368.5(TSC1):c.1509dup (p.Asp504Ter)
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rs796053470
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NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
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rs118203542
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NM_000368.5(TSC1):c.1533dup (p.Leu512fs)
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rs1554816029
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NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)
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rs118203549
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NM_000368.5(TSC1):c.1696_1697insTC (p.Pro566fs)
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rs1064794760
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NM_000368.5(TSC1):c.1697del (p.Pro566fs)
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rs118203563
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NM_000368.5(TSC1):c.1702_1703del (p.Gly568fs)
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rs397514777
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NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs)
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rs118203564
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NM_000368.5(TSC1):c.1713del (p.Glu571fs)
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rs796053471
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NM_000368.5(TSC1):c.1727del (p.Leu576fs)
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rs886041684
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NM_000368.5(TSC1):c.1788del (p.Phe596fs)
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rs118203582
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NM_000368.5(TSC1):c.1808_1811dup (p.Asp605fs)
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rs2131821838
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NM_000368.5(TSC1):c.182T>C (p.Leu61Pro)
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rs118203345
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NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
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NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs)
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rs118203599
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NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)
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rs75820036
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NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter)
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rs118203606
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NM_000368.5(TSC1):c.1987G>T (p.Glu663Ter)
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rs886041538
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NM_000368.5(TSC1):c.1997+1G>A
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rs118203610
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NM_000368.5(TSC1):c.1998-2A>G
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rs1057518217
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NM_000368.5(TSC1):c.2001_2004del (p.Leu667fs)
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rs1554815476
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NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
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rs118203631
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NM_000368.5(TSC1):c.2075_2120dup (p.Phe707delinsLeuArgProValAlaPheThrAlaGlnProValThrLeuTer)
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rs886042012
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NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter)
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rs397514789
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NM_000368.5(TSC1):c.2082del (p.Gln694fs)
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rs118203632
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NM_000368.5(TSC1):c.2101C>T (p.Gln701Ter)
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rs1845504382
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NM_000368.5(TSC1):c.2103_2106dup (p.Leu703fs)
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rs118203638
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NM_000368.5(TSC1):c.2106_2109delinsTTGTTTTAAGAGCGTTT (p.Leu702fs)
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rs1057517842
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NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer)
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rs118203645
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NM_000368.5(TSC1):c.2128C>T (p.Gln710Ter)
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rs397514874
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NM_000368.5(TSC1):c.2145del (p.Asn716fs)
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rs118203650
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NM_000368.5(TSC1):c.2156del (p.Leu719fs)
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rs886041456
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NM_000368.5(TSC1):c.2208+2T>A
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rs1064794132
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NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter)
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rs1554815054
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NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)
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rs118203661
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NM_000368.5(TSC1):c.2272C>T (p.Gln758Ter)
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rs397514783
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NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter)
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rs118203668
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NM_000368.5(TSC1):c.2292_2293insT (p.Gln765fs)
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rs1064794504
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NM_000368.5(TSC1):c.2293C>T (p.Gln765Ter)
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rs118203673
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NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
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rs118203682
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NM_000368.5(TSC1):c.2380C>T (p.Gln794Ter)
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rs781371665
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NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)
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rs397514862
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NM_000368.5(TSC1):c.2401G>T (p.Glu801Ter)
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rs118203687
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NM_000368.5(TSC1):c.2487_2490del (p.Ser829fs)
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rs886039735
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NM_000368.5(TSC1):c.2497dup (p.Gln833fs)
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rs2131702709
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NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)
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rs118203707
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NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)
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rs1447417010
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NM_000368.5(TSC1):c.2569del (p.Glu857fs)
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rs118203712
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NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter)
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rs886039662
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NM_000368.5(TSC1):c.260T>G (p.Leu87Ter)
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rs397514776
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NM_000368.5(TSC1):c.261dup (p.Ser88fs)
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rs1588355628
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NM_000368.5(TSC1):c.2632G>T (p.Glu878Ter)
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rs1290215290
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NM_000368.5(TSC1):c.2640del (p.Met880fs)
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rs1588291118
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NM_000368.5(TSC1):c.2641A>T (p.Lys881Ter)
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rs1057520444
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NM_000368.5(TSC1):c.2656A>T (p.Lys886Ter)
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rs1554813568
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NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter)
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rs118203727
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NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)
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rs397514871
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NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter)
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rs118203732
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NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)
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rs118203735
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NM_000368.5(TSC1):c.2866C>T (p.Gln956Ter)
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rs1554813331
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NM_000368.5(TSC1):c.325C>T (p.Gln109Ter)
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rs397514774
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NM_000368.5(TSC1):c.491G>A (p.Trp164Ter)
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rs118203387
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NM_000368.5(TSC1):c.492G>A (p.Trp164Ter)
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rs1554819870
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NM_000368.5(TSC1):c.587del (p.Pro196fs)
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rs796053464
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NM_000368.5(TSC1):c.590_594del (p.Cys197fs)
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rs1064796162
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NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer)
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rs118203417
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NM_000368.5(TSC1):c.663+1G>A
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rs118203419
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NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)
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rs118203427
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NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
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rs118203434
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NM_000368.5(TSC1):c.737+1G>A
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rs118203438
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NM_000368.5(TSC1):c.737+1G>T
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rs118203438
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NM_000368.5(TSC1):c.737+3A>G
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rs118203439
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NM_000368.5(TSC1):c.737_737+1dup
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rs118203435
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NM_000368.5(TSC1):c.738-2A>T
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rs118203440
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NM_000368.5(TSC1):c.74dup (p.Thr26fs)
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rs886041959
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NM_000368.5(TSC1):c.772G>T (p.Glu258Ter)
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rs118203450
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NM_000368.5(TSC1):c.813T>G (p.Tyr271Ter)
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rs118203452
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NM_000368.5(TSC1):c.850_881delinsGCTTTCCTCATCGTT (p.Arg284fs)
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rs886041977
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NM_000368.5(TSC1):c.914-2A>G
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rs886041638
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NM_000368.5(TSC1):c.973C>T (p.Gln325Ter)
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rs118203474
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NM_000368.5(TSC1):c.989_990insTT (p.Leu330_Ser331insTer)
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rs118203478
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NM_000368.5(TSC1):c.989dup (p.Ser331fs)
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rs118203478
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