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.125T>A (p.Val42Glu)
|
rs1846926218
|
|
NM_000368.5(TSC1):c.1264-1G>A
|
rs1554816432
|
|
NM_000368.5(TSC1):c.1334-30_1344del
|
|
|
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.182T>G (p.Leu61Arg)
|
rs118203345
|
|
NM_000368.5(TSC1):c.2042-177_2266del
|
|
|
NM_000368.5(TSC1):c.2042-5A>G
|
rs118203627
|
|
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.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.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.362A>T (p.Lys121Met)
|
rs118203369
|
|
NM_000368.5(TSC1):c.363+1G>A
|
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.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.509-1G>C
|
rs1554819620
|
|
NM_000368.5(TSC1):c.572T>A (p.Leu191His)
|
rs118203403
|
|
NM_000368.5(TSC1):c.663+1G>A
|
rs118203419
|
|
NM_000368.5(TSC1):c.663+2T>C
|
|
|
NM_000368.5(TSC1):c.664-1G>A
|
rs118203423
|
|
NM_000368.5(TSC1):c.671T>G (p.Met224Arg)
|
rs118203426
|
|
NM_000368.5(TSC1):c.738-2_740del
|
rs1554817707
|
|