NM_000368.5(TSC1):c.1142-33A>G
|
rs6597586
|
0.15388
|
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.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_000368.5(TSC1):c.1726T>C (p.Leu576=)
|
rs118203567
|
0.00165
|
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=)
|
rs118203751
|
0.00010
|
NM_000368.5(TSC1):c.479G>A (p.Arg160His)
|
rs749979841
|
0.00005
|
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly)
|
rs768624733
|
0.00003
|
NM_000368.5(TSC1):c.1219G>A (p.Val407Met)
|
rs769331772
|
0.00001
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg)
|
rs587778722
|
0.00001
|
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr)
|
rs368481360
|
0.00001
|
NM_000368.5(TSC1):c.203A>G (p.His68Arg)
|
rs118203347
|
0.00001
|
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu)
|
rs753263747
|
0.00001
|
NM_000368.5(TSC1):c.1027C>T (p.Gln343Ter)
|
rs2131972870
|
|
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter)
|
rs118203491
|
|
NM_000368.5(TSC1):c.132dup (p.Val46fs)
|
rs118203337
|
|
NM_000368.5(TSC1):c.1354G>C (p.Gly452Arg)
|
rs118203519
|
|
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)
|
rs118203542
|
|
NM_000368.5(TSC1):c.1546C>T (p.Gln516Ter)
|
rs1588310754
|
|
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter)
|
rs118203549
|
|
NM_000368.5(TSC1):c.163C>T (p.Gln55Ter)
|
rs118203343
|
|
NM_000368.5(TSC1):c.1669del (p.Leu557fs)
|
rs118203556
|
|
NM_000368.5(TSC1):c.1727_1748delinsG (p.Leu576_Pro583delinsCys)
|
rs118203569
|
|
NM_000368.5(TSC1):c.1907_1908del (p.Glu636fs)
|
rs118203599
|
|
NM_000368.5(TSC1):c.1958_1959del (p.Ile653fs)
|
rs118203602
|
|
NM_000368.5(TSC1):c.1997+67AG[2]
|
rs118203612
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter)
|
rs397514789
|
|
NM_000368.5(TSC1):c.2215C>T (p.Gln739Ter)
|
rs1554815054
|
|
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter)
|
rs118203661
|
|
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg)
|
rs796053460
|
|
NM_000368.5(TSC1):c.245A>C (p.Lys82Thr)
|
rs118203356
|
|
NM_000368.5(TSC1):c.2497C>T (p.Gln833Ter)
|
rs118203700
|
|
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)
|
rs1447417010
|
|
NM_000368.5(TSC1):c.2625+1G>A
|
rs118203715
|
|
NM_000368.5(TSC1):c.2626-4T[17_21]
|
|
|
NM_000368.5(TSC1):c.2866C>T (p.Gln956Ter)
|
rs1554813331
|
|
NM_000368.5(TSC1):c.2977C>A (p.Leu993Ile)
|
|
|
NM_000368.5(TSC1):c.3030G>T (p.Glu1010Asp)
|
rs118203741
|
|
NM_000368.5(TSC1):c.3427C>G (p.Pro1143Ala)
|
|
|
NM_000368.5(TSC1):c.473T>G (p.Phe158Cys)
|
rs118203385
|
|
NM_000368.5(TSC1):c.489A>T (p.Ser163=)
|
rs118203386
|
|
NM_000368.5(TSC1):c.524dup (p.Tyr176fs)
|
rs118203393
|
|
NM_000368.5(TSC1):c.556del (p.Ala186fs)
|
|
|
NM_000368.5(TSC1):c.569del (p.Arg190fs)
|
rs118203401
|
|
NM_000368.5(TSC1):c.589del (p.Cys197fs)
|
|
|
NM_000368.5(TSC1):c.658G>T (p.Val220Phe)
|
rs397514830
|
|
NM_000368.5(TSC1):c.663+1G>A
|
rs118203419
|
|
NM_000368.5(TSC1):c.664-1G>A
|
rs118203423
|
|
NM_000368.5(TSC1):c.848C>T (p.Ala283Val)
|
rs1554817613
|
|