NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00071
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_000548.5(TSC2):c.3284+25C>T
|
rs370495938
|
0.00028
|
NM_000548.5(TSC2):c.1443+4C>T
|
rs45517172
|
0.00024
|
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln)
|
rs45506695
|
0.00019
|
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)
|
rs45505895
|
0.00018
|
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
NM_000548.5(TSC2):c.1656A>G (p.Ala552=)
|
rs373515515
|
0.00007
|
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp)
|
rs372321790
|
0.00004
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_000548.5(TSC2):c.1689C>T (p.Ala563=)
|
rs779858018
|
0.00001
|
NM_000548.5(TSC2):c.1380_1386del (p.Val461fs)
|
rs2151171193
|
|
NM_000548.5(TSC2):c.139-1G>A
|
rs1567386603
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1717-2A>C
|
rs1596335963
|
|
NM_000548.5(TSC2):c.2027G>C (p.Gly676Ala)
|
rs754556513
|
|
NM_000548.5(TSC2):c.2046del (p.Ser683fs)
|
rs397515287
|
|
NM_000548.5(TSC2):c.2350A>T (p.Lys784Ter)
|
rs751172150
|
|
NM_000548.5(TSC2):c.2501C>G (p.Ser834Ter)
|
rs1596356898
|
|
NM_000548.5(TSC2):c.2997_2998dup (p.Leu1000fs)
|
rs1596382268
|
|
NM_000548.5(TSC2):c.3040dup (p.Ser1014fs)
|
rs2151432406
|
|
NM_000548.5(TSC2):c.3376del (p.Asp1126fs)
|
rs397515125
|
|
NM_000548.5(TSC2):c.3669del (p.Asn1224fs)
|
rs137854223
|
|
NM_000548.5(TSC2):c.4005+1G>A
|
rs45517324
|
|
NM_000548.5(TSC2):c.4005+2T>C
|
rs137854254
|
|
NM_000548.5(TSC2):c.4006-2A>G
|
rs397514941
|
|
NM_000548.5(TSC2):c.400G>T (p.Glu134Ter)
|
rs1555497641
|
|
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter)
|
rs397514976
|
|
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs)
|
rs137854132
|
|
NM_000548.5(TSC2):c.4279dup (p.Ser1427fs)
|
rs137854113
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.4550C>G (p.Pro1517Arg)
|
rs1279603512
|
|
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)
|
rs45517362
|
|
NM_000548.5(TSC2):c.4813_4827dup (p.Gln1605_Cys1609dup)
|
rs1596439426
|
|
NM_000548.5(TSC2):c.4876C>A (p.Pro1626Thr)
|
rs2090852831
|
|
NM_000548.5(TSC2):c.4936G>C (p.Val1646Leu)
|
rs1064796970
|
|
NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro)
|
rs397515159
|
|
NM_000548.5(TSC2):c.5068+27_5069-47del
|
|
|
NM_000548.5(TSC2):c.5068+2T>C
|
rs397515152
|
|
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro)
|
rs45517408
|
|
NM_000548.5(TSC2):c.5212del (p.Ser1738fs)
|
rs1596460606
|
|
NM_000548.5(TSC2):c.595del (p.Val199fs)
|
rs2151061858
|
|
NM_000548.5(TSC2):c.975+1G>T
|
rs137854200
|
|