NC_000009.11:g.(?_135778117)_(135779381_?)del
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NM_000368.5(TSC1):c.1005dup (p.Arg336fs)
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rs2131975092
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NM_000368.5(TSC1):c.1013_1019del (p.Ile338fs)
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rs1554817344
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NM_000368.5(TSC1):c.1029+1G>C
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rs118203485
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NM_000368.5(TSC1):c.1029+3A>G
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rs1554817334
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NM_000368.5(TSC1):c.106+2T>C
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rs1554820976
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NM_000368.5(TSC1):c.1098_1105dup (p.Leu369fs)
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NM_000368.5(TSC1):c.1138_1141+1del
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rs2538846534
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NM_000368.5(TSC1):c.1141+1G>A
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rs397514819
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NM_000368.5(TSC1):c.1141+3A>G
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rs2131956082
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NM_000368.5(TSC1):c.1156del (p.Thr386fs)
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rs2131946983
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NM_000368.5(TSC1):c.1229C>A (p.Ser410Ter)
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rs1564487289
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NM_000368.5(TSC1):c.125T>A (p.Val42Glu)
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rs1846926218
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NM_000368.5(TSC1):c.1264-1G>A
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rs1554816432
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NM_000368.5(TSC1):c.1309dup (p.His437fs)
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rs2538783712
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NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter)
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rs1845724649
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NM_000368.5(TSC1):c.1334-30_1344del
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rs2538772369
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NM_000368.5(TSC1):c.134T>C (p.Leu45Ser)
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rs1554820662
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NM_000368.5(TSC1):c.1439-1G>A
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rs397514804
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NM_000368.5(TSC1):c.1439-1G>C
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rs397514804
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NM_000368.5(TSC1):c.1439-2A>G
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rs118203531
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NM_000368.5(TSC1):c.1459dup (p.Ser487fs)
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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.1525C>T (p.Arg509Ter)
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rs118203542
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NM_000368.5(TSC1):c.1531dup (p.Ser511fs)
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rs1845652182
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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.1782_1786del (p.Gly595fs)
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rs1554815828
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NM_000368.5(TSC1):c.1798C>T (p.Gln600Ter)
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rs2131822866
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NM_000368.5(TSC1):c.182T>G (p.Leu61Arg)
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rs118203345
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NM_000368.5(TSC1):c.1831del (p.Ala611fs)
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NM_000368.5(TSC1):c.1934del (p.Pro645fs)
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NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter)
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rs1845604585
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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.1997+2T>C
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rs2131806725
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NM_000368.5(TSC1):c.2042-177_2266del
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NM_000368.5(TSC1):c.2042-5A>G
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rs118203627
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NM_000368.5(TSC1):c.2129_2132dup (p.His712fs)
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rs2538652467
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NM_000368.5(TSC1):c.215T>C (p.Leu72Pro)
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rs118203354
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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.2209-2A>G
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rs2131742187
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NM_000368.5(TSC1):c.2242del (p.Gln748fs)
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rs2538623662
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NM_000368.5(TSC1):c.2269G>T (p.Glu757Ter)
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rs1057519319
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NM_000368.5(TSC1):c.2271_2280del (p.Glu757fs)
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rs2538619323
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NM_000368.5(TSC1):c.2275del (p.Ala759fs)
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NM_000368.5(TSC1):c.232G>T (p.Glu78Ter)
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rs1588355838
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NM_000368.5(TSC1):c.2391+1G>C
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rs1060503224
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NM_000368.5(TSC1):c.2391+1G>T
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rs1060503224
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NM_000368.5(TSC1):c.2392-1G>T
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rs397514822
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NM_000368.5(TSC1):c.2392-1del
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rs2131710574
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NM_000368.5(TSC1):c.2392-2A>G
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rs2131710621
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NM_000368.5(TSC1):c.2392-6_2398del
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rs2538580044
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NM_000368.5(TSC1):c.2405dup (p.Asp802fs)
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rs2538579287
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NM_000368.5(TSC1):c.2502+1G>A
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rs2131702478
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NM_000368.5(TSC1):c.2502+1G>T
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rs2131702478
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NM_000368.5(TSC1):c.2502+2_2502+9del
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rs1588298866
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NM_000368.5(TSC1):c.278T>A (p.Leu93Gln)
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rs118203363
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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.2813+2T>G
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rs1845135533
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NM_000368.5(TSC1):c.2814-1G>A
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rs2538483320
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NM_000368.5(TSC1):c.2814-2A>G
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rs1588290111
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NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)
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rs1588290078
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NM_000368.5(TSC1):c.338_343del (p.Leu113_Pro114del)
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rs2539071463
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NM_000368.5(TSC1):c.362A>T (p.Lys121Met)
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rs118203369
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NM_000368.5(TSC1):c.363+1G>T
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rs118203372
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NM_000368.5(TSC1):c.363+2_363+5del
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rs1846806279
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NM_000368.5(TSC1):c.363+5G>C
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rs118203374
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NM_000368.5(TSC1):c.364-2A>G
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rs1846685279
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NM_000368.5(TSC1):c.375CGT[1] (p.Val128del)
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rs2539042877
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NM_000368.5(TSC1):c.378_379insCGT (p.Val126_Val127insArg)
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rs1846682853
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NM_000368.5(TSC1):c.381_383del (p.Val128del)
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rs118203378
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NM_000368.5(TSC1):c.385_399dup (p.Leu134_Val135insThrThrGlyValLeu)
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NM_000368.5(TSC1):c.395G>A (p.Gly132Asp)
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rs397514784
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NM_000368.5(TSC1):c.508+2T>C
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rs2132185885
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NM_000368.5(TSC1):c.509-1G>A
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rs1554819620
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NM_000368.5(TSC1):c.509-1G>C
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rs1554819620
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NM_000368.5(TSC1):c.542A>C (p.His181Pro)
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rs397515294
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NM_000368.5(TSC1):c.562T>G (p.Phe188Val)
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rs2539014270
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NM_000368.5(TSC1):c.572T>A (p.Leu191His)
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rs118203403
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NM_000368.5(TSC1):c.651_663dup (p.Pro222fs)
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rs1554819509
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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.663+2T>C
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rs2132148804
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NM_000368.5(TSC1):c.664-15A>G
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rs118203422
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NM_000368.5(TSC1):c.664-1G>A
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rs118203423
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NM_000368.5(TSC1):c.671T>G (p.Met224Arg)
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rs118203426
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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+3A>G
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rs118203439
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NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)
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rs118203436
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NM_000368.5(TSC1):c.738-2_740del
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rs1554817707
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NM_000368.5(TSC1):c.769_776del (p.Ile257fs)
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rs1554817676
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NM_000368.5(TSC1):c.901_913+1del
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rs118203465
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NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter)
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rs118203466
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NM_000368.5(TSC1):c.982C>T (p.Gln328Ter)
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rs1554817388
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