NM_000368.5(TSC1):c.1005dup (p.Arg336fs)
|
rs2131975092
|
|
NM_000368.5(TSC1):c.1013_1019del (p.Ile338fs)
|
rs1554817344
|
|
NM_000368.5(TSC1):c.1029+3A>G
|
rs1554817334
|
|
NM_000368.5(TSC1):c.106+2T>C
|
rs1554820976
|
|
NM_000368.5(TSC1):c.1138_1141+1del
|
|
|
NM_000368.5(TSC1):c.1141+1G>A
|
rs397514819
|
|
NM_000368.5(TSC1):c.1141+3A>G
|
|
|
NM_000368.5(TSC1):c.1156del (p.Thr386fs)
|
rs2131946983
|
|
NM_000368.5(TSC1):c.1229C>A (p.Ser410Ter)
|
|
|
NM_000368.5(TSC1):c.125T>A (p.Val42Glu)
|
rs1846926218
|
|
NM_000368.5(TSC1):c.1264-1G>A
|
rs1554816432
|
|
NM_000368.5(TSC1):c.1309dup (p.His437fs)
|
|
|
NM_000368.5(TSC1):c.1324A>T (p.Arg442Ter)
|
rs1845724649
|
|
NM_000368.5(TSC1):c.1334-30_1344del
|
|
|
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser)
|
rs1554820662
|
|
NM_000368.5(TSC1):c.1439-1G>A
|
rs397514804
|
|
NM_000368.5(TSC1):c.1439-1G>C
|
rs397514804
|
|
NM_000368.5(TSC1):c.1439-2A>G
|
rs118203531
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1531dup (p.Ser511fs)
|
rs1845652182
|
|
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)
|
rs118203549
|
|
NM_000368.5(TSC1):c.1782_1786del (p.Gly595fs)
|
rs1554815828
|
|
NM_000368.5(TSC1):c.1798C>T (p.Gln600Ter)
|
|
|
NM_000368.5(TSC1):c.182T>G (p.Leu61Arg)
|
rs118203345
|
|
NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter)
|
rs1845604585
|
|
NM_000368.5(TSC1):c.2042-177_2266del
|
|
|
NM_000368.5(TSC1):c.2042-5A>G
|
rs118203627
|
|
NM_000368.5(TSC1):c.2129_2132dup (p.His712fs)
|
|
|
NM_000368.5(TSC1):c.2208+2T>A
|
rs1064794132
|
|
NM_000368.5(TSC1):c.2242del (p.Gln748fs)
|
|
|
NM_000368.5(TSC1):c.2269G>T (p.Glu757Ter)
|
rs1057519319
|
|
NM_000368.5(TSC1):c.2271_2280del (p.Glu757fs)
|
|
|
NM_000368.5(TSC1):c.232G>T (p.Glu78Ter)
|
rs1588355838
|
|
NM_000368.5(TSC1):c.2391+1G>C
|
rs1060503224
|
|
NM_000368.5(TSC1):c.2391+1G>T
|
|
|
NM_000368.5(TSC1):c.2392-1del
|
rs2131710574
|
|
NM_000368.5(TSC1):c.2392-6_2398del
|
|
|
NM_000368.5(TSC1):c.2405dup (p.Asp802fs)
|
|
|
NM_000368.5(TSC1):c.2502+1G>A
|
|
|
NM_000368.5(TSC1):c.2502+2_2502+9del
|
rs1588298866
|
|
NM_000368.5(TSC1):c.2626-1G>A
|
rs397514847
|
|
NM_000368.5(TSC1):c.2626-2A>C
|
rs118203717
|
|
NM_000368.5(TSC1):c.278T>A (p.Leu93Gln)
|
rs118203363
|
|
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter)
|
rs118203735
|
|
NM_000368.5(TSC1):c.2813+2T>G
|
rs1845135533
|
|
NM_000368.5(TSC1):c.2814-1G>A
|
|
|
NM_000368.5(TSC1):c.2814-2A>G
|
rs1588290111
|
|
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)
|
rs1588290078
|
|
NM_000368.5(TSC1):c.362A>T (p.Lys121Met)
|
rs118203369
|
|
NM_000368.5(TSC1):c.363+1G>A
|
rs118203372
|
|
NM_000368.5(TSC1):c.363+1G>T
|
rs118203372
|
|
NM_000368.5(TSC1):c.363+2_363+5del
|
rs1846806279
|
|
NM_000368.5(TSC1):c.363+5G>C
|
rs118203374
|
|
NM_000368.5(TSC1):c.364-2A>G
|
rs1846685279
|
|
NM_000368.5(TSC1):c.375CGT[1] (p.Val128del)
|
|
|
NM_000368.5(TSC1):c.378_379insCGT (p.Val126_Val127insArg)
|
rs1846682853
|
|
NM_000368.5(TSC1):c.381_383del (p.Val128del)
|
rs118203378
|
|
NM_000368.5(TSC1):c.508+2T>C
|
rs2132185885
|
|
NM_000368.5(TSC1):c.509-1G>A
|
rs1554819620
|
|
NM_000368.5(TSC1):c.509-1G>C
|
rs1554819620
|
|
NM_000368.5(TSC1):c.542A>C (p.His181Pro)
|
rs397515294
|
|
NM_000368.5(TSC1):c.562T>G (p.Phe188Val)
|
|
|
NM_000368.5(TSC1):c.572T>A (p.Leu191His)
|
rs118203403
|
|
NM_000368.5(TSC1):c.651_663dup (p.Pro222fs)
|
rs1554819509
|
|
NM_000368.5(TSC1):c.663+1G>A
|
rs118203419
|
|
NM_000368.5(TSC1):c.663+2T>C
|
|
|
NM_000368.5(TSC1):c.664-15A>G
|
rs118203422
|
|
NM_000368.5(TSC1):c.664-1G>A
|
rs118203423
|
|
NM_000368.5(TSC1):c.671T>G (p.Met224Arg)
|
rs118203426
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000368.5(TSC1):c.737+3A>G
|
rs118203439
|
|
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)
|
rs118203436
|
|
NM_000368.5(TSC1):c.738-2_740del
|
rs1554817707
|
|
NM_000368.5(TSC1):c.769_776del (p.Ile257fs)
|
rs1554817676
|
|
NM_000368.5(TSC1):c.912T>G (p.Tyr304Ter)
|
rs118203466
|
|
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter)
|
rs1554817388
|
|