NM_000368.5(TSC1):c.1335A>G (p.Glu445=)
|
rs7862221
|
0.15974
|
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)
|
rs1073123
|
0.15387
|
NM_000368.5(TSC1):c.2829C>T (p.Ala943=)
|
rs4962081
|
0.08329
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_000368.5(TSC1):c.-129A>T
|
rs116951280
|
0.01206
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)
|
rs116747861
|
0.00461
|
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser)
|
rs118203518
|
0.00372
|
NM_000368.5(TSC1):c.-99C>T
|
rs114755636
|
0.00347
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_000368.5(TSC1):c.1726T>C (p.Leu576=)
|
rs118203567
|
0.00165
|
NM_000368.5(TSC1):c.1701G>A (p.Ala567=)
|
rs35478675
|
0.00155
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_000368.5(TSC1):c.851G>A (p.Arg284His)
|
rs151309813
|
0.00008
|
NM_000368.5(TSC1):c.1141+10T>C
|
rs367601694
|
0.00004
|
NM_000368.5(TSC1):c.126A>C (p.Val42=)
|
rs118203335
|
0.00002
|
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys)
|
rs202241429
|
0.00002
|
NM_000368.5(TSC1):c.340C>T (p.Pro114Ser)
|
rs779395169
|
0.00002
|
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr)
|
rs752290177
|
0.00002
|
NM_000368.5(TSC1):c.135G>A (p.Leu45=)
|
rs149278759
|
0.00001
|
NM_000368.5(TSC1):c.107-1G>A
|
rs1064793494
|
|
NM_000368.5(TSC1):c.1125dup (p.Val376fs)
|
rs1554817227
|
|
NM_000368.5(TSC1):c.1257del (p.Arg420fs)
|
rs118203506
|
|
NM_000368.5(TSC1):c.1264-1G>A
|
rs1554816432
|
|
NM_000368.5(TSC1):c.1431_1434del (p.Glu478fs)
|
rs118203527
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1569_1570delinsGTGAA (p.Ser524Ter)
|
rs2131841336
|
|
NM_000368.5(TSC1):c.1580_1581del (p.Gln527fs)
|
rs118203550
|
|
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs)
|
rs118203557
|
|
NM_000368.5(TSC1):c.1697del (p.Pro566fs)
|
rs118203563
|
|
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
|
|
|
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)
|
rs118203597
|
|
NM_000368.5(TSC1):c.1959dup (p.Gln654fs)
|
rs118203603
|
|
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)
|
rs75820036
|
|
NM_000368.5(TSC1):c.2023del (p.Asp675fs)
|
rs118203620
|
|
NM_000368.5(TSC1):c.2041+1G>A
|
rs397514842
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.211-2A>C
|
rs118203352
|
|
NM_000368.5(TSC1):c.211-7T>G
|
rs1554820321
|
|
NM_000368.5(TSC1):c.2152_2153insAGCC (p.Arg718fs)
|
rs1588303969
|
|
NM_000368.5(TSC1):c.2161del (p.Arg721fs)
|
rs1588303890
|
|
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)
|
rs118203661
|
|
NM_000368.5(TSC1):c.2249G>A (p.Trp750Ter)
|
rs118203662
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)
|
rs118203707
|
|
NM_000368.5(TSC1):c.2672del (p.Asn891fs)
|
rs118203724
|
|
NM_000368.5(TSC1):c.2675_2676del (p.Arg892fs)
|
rs118203726
|
|
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter)
|
rs397514871
|
|
NM_000368.5(TSC1):c.271_272del (p.Ser91fs)
|
rs118203360
|
|
NM_000368.5(TSC1):c.451_455delinsTTTC (p.Leu151fs)
|
rs1554819900
|
|
NM_000368.5(TSC1):c.456del (p.Asp153fs)
|
rs1554819896
|
|
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser)
|
rs118203385
|
|
NM_000368.5(TSC1):c.485C>A (p.Ser162Ter)
|
rs1846671628
|
|
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer)
|
rs118203417
|
|
NM_000368.5(TSC1):c.651_663dup (p.Pro222fs)
|
rs1554819509
|
|
NM_000368.5(TSC1):c.661A>T (p.Lys221Ter)
|
rs1564497826
|
|
NM_000368.5(TSC1):c.664-1G>C
|
rs118203423
|
|
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)
|
rs118203427
|
|
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)
|
rs118203434
|
|
NM_000368.5(TSC1):c.737+1G>A
|
rs118203438
|
|
NM_000368.5(TSC1):c.749del (p.Arg249_Leu250insTer)
|
rs118203445
|
|
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter)
|
rs397514867
|
|
NM_000368.5(TSC1):c.901_902del (p.Gln301fs)
|
rs118203464
|
|
NM_000368.5(TSC1):c.915G>C (p.Gly305=)
|
rs397515293
|
|
NM_000368.5(TSC1):c.973C>T (p.Gln325Ter)
|
rs118203474
|
|
NM_000368.5(TSC1):c.989_990del (p.Leu330fs)
|
rs118203479
|
|
NM_000368.5(TSC1):c.989dup (p.Ser331fs)
|
rs118203478
|
|
Single allele
|
|
|