NM_000548.5(TSC2):c.856A>G (p.Met286Val)
|
rs1800748
|
0.00083
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=)
|
rs45475501
|
0.00026
|
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu)
|
rs137854065
|
0.00007
|
NM_000548.5(TSC2):c.5210C>T (p.Pro1737Leu)
|
rs749326176
|
0.00004
|
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys)
|
rs45517148
|
0.00003
|
NM_000548.5(TSC2):c.1882C>T (p.Arg628Cys)
|
rs45437797
|
0.00003
|
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val)
|
rs45517249
|
0.00003
|
NM_000548.5(TSC2):c.4930G>A (p.Asp1644Asn)
|
rs137853999
|
0.00002
|
NM_000548.5(TSC2):c.993C>T (p.Asn331=)
|
rs45517153
|
0.00002
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=)
|
rs769653533
|
0.00001
|
NC_000016.10:g.2056989_2074645del
|
|
|
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter)
|
rs45517148
|
|
NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter)
|
rs1596298721
|
|
NM_000548.5(TSC2):c.1119+129G>T
|
rs1001221917
|
|
NM_000548.5(TSC2):c.1133_1136dup (p.Glu379fs)
|
rs2086680808
|
|
NM_000548.5(TSC2):c.1177G>T (p.Glu393Ter)
|
rs2086689358
|
|
NM_000548.5(TSC2):c.1267_1270del (p.Ser422_Leu423insTer)
|
rs2086765953
|
|
NM_000548.5(TSC2):c.1276del (p.Asn425_Leu426insTer)
|
rs2086767947
|
|
NM_000548.5(TSC2):c.1327C>T (p.Gln443Ter)
|
rs2151164702
|
|
NM_000548.5(TSC2):c.133_136del (p.Leu45fs)
|
rs137854360
|
|
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)
|
rs45517169
|
|
NM_000548.5(TSC2):c.1476G>C (p.Gln492His)
|
rs1596311941
|
|
NM_000548.5(TSC2):c.1487del (p.Ile496fs)
|
rs2087013746
|
|
NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter)
|
rs45517178
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1599+4A>C
|
rs2151192256
|
|
NM_000548.5(TSC2):c.1628dup (p.Glu544fs)
|
rs397515204
|
|
NM_000548.5(TSC2):c.1717-1G>A
|
rs45517192
|
|
NM_000548.5(TSC2):c.1739_1740insT (p.Ser581fs)
|
rs2088122285
|
|
NM_000548.5(TSC2):c.1778A>G (p.His593Arg)
|
rs45517198
|
|
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp)
|
rs45469298
|
|
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln)
|
rs28934872
|
|
NM_000548.5(TSC2):c.1840-1G>A
|
rs397514953
|
|
NM_000548.5(TSC2):c.1845del (p.Phe615fs)
|
rs137854248
|
|
NM_000548.5(TSC2):c.1856TGC[2] (p.Leu621del)
|
rs397515195
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
NM_000548.5(TSC2):c.1946+1G>A
|
rs397514994
|
|
NM_000548.5(TSC2):c.1981_2020del (p.Gly661fs)
|
rs2088453139
|
|
NM_000548.5(TSC2):c.2021_2356-115delinsTAAGCACTTAGTCTCCT
|
|
|
NM_000548.5(TSC2):c.2098-2A>T
|
rs45501596
|
|
NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro)
|
rs45517217
|
|
NM_000548.5(TSC2):c.2220+2T>C
|
rs397515121
|
|
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter)
|
rs45517222
|
|
NM_000548.5(TSC2):c.2261C>T (p.Pro754Leu)
|
rs2088690950
|
|
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter)
|
rs45517225
|
|
NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro)
|
rs2151328709
|
|
NM_000548.5(TSC2):c.2356-1G>A
|
rs45481704
|
|
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser)
|
rs45489791
|
|
NM_000548.5(TSC2):c.2475_2503del (p.Leu826fs)
|
rs2088933078
|
|
NM_000548.5(TSC2):c.2546-313_2967-376del
|
|
|
NM_000548.5(TSC2):c.2562_2566del (p.His855fs)
|
rs2151380036
|
|
NM_000548.5(TSC2):c.2639+4_2639+13delinsTACGGCAGGGGTTGCCGTACACCAACCCCT
|
rs2089276880
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs)
|
rs1555508929
|
|
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln)
|
rs1222477746
|
|
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro)
|
rs45491698
|
|
NM_000548.5(TSC2):c.3099C>G (p.Tyr1033Ter)
|
rs45464800
|
|
NM_000548.5(TSC2):c.3223_3229dup (p.Thr1077fs)
|
rs397515115
|
|
NM_000548.5(TSC2):c.3294dup (p.Gly1099fs)
|
rs397515048
|
|
NM_000548.5(TSC2):c.337-1G>A
|
rs45517105
|
|
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter)
|
rs45451497
|
|
NM_000548.5(TSC2):c.3610+1G>A
|
rs45517299
|
|
NM_000548.5(TSC2):c.3620_3624del (p.Ser1207fs)
|
rs397514952
|
|
NM_000548.5(TSC2):c.364del (p.Leu122fs)
|
rs2085499583
|
|
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs)
|
rs137853993
|
|
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter)
|
rs45517308
|
|
NM_000548.5(TSC2):c.3791del (p.Pro1264fs)
|
rs137854001
|
|
NM_000548.5(TSC2):c.3884-1G>C
|
rs137854079
|
|
NM_000548.5(TSC2):c.4005+1G>A
|
rs45517324
|
|
NM_000548.5(TSC2):c.4006-2A>T
|
rs397514941
|
|
NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter)
|
rs397515035
|
|
NM_000548.5(TSC2):c.4033A>T (p.Lys1345Ter)
|
rs2151521044
|
|
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu)
|
rs1555513920
|
|
NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter)
|
rs137854045
|
|
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter)
|
rs397514976
|
|
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter)
|
rs45517330
|
|
NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter)
|
rs886041772
|
|
NM_000548.5(TSC2):c.4287dup (p.Trp1430fs)
|
rs2090516898
|
|
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs)
|
rs137854175
|
|
NM_000548.5(TSC2):c.4572dup (p.Gln1525fs)
|
rs137854425
|
|
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter)
|
rs45517352
|
|
NM_000548.5(TSC2):c.45_51del (p.Lys16fs)
|
rs397514958
|
|
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)
|
rs2090628516
|
|
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del)
|
rs137854146
|
|
NM_000548.5(TSC2):c.4672G>T (p.Glu1558Ter)
|
rs45517360
|
|
NM_000548.5(TSC2):c.4798_4804dup (p.Glu1602delinsValTrpTer)
|
rs2090784195
|
|
NM_000548.5(TSC2):c.4850-2A>G
|
rs397515315
|
|
NM_000548.5(TSC2):c.4909AAG[1] (p.Lys1638del)
|
rs137854261
|
|
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter)
|
rs45448101
|
|
NM_000548.5(TSC2):c.5017del (p.Val1673fs)
|
rs2091048308
|
|
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5112dup (p.Asp1705Ter)
|
rs397515205
|
|
NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu)
|
rs45517393
|
|
NM_000548.5(TSC2):c.5165C>A (p.Ala1722Asp)
|
rs1373235682
|
|
NM_000548.5(TSC2):c.5204_5207dup (p.Pro1737fs)
|
rs397515053
|
|
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly)
|
rs45517412
|
|
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp)
|
rs45517412
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
rs45507199
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.5239_5256del (p.Ile1747_Gln1752del)
|
rs2151632008
|
|
NM_000548.5(TSC2):c.5361C>T (p.Gly1787=)
|
rs1334165353
|
|
NM_000548.5(TSC2):c.5402_5403del (p.Glu1801fs)
|
rs397514972
|
|
NM_000548.5(TSC2):c.5422_5423del (p.Ter1808ArgextTer?)
|
rs137854027
|
|
NM_000548.5(TSC2):c.600-124G>A
|
rs2151069014
|
|
NM_000548.5(TSC2):c.782_783insT (p.Asn262fs)
|
rs2085955298
|
|
NM_000548.5(TSC2):c.843G>T (p.Glu281Asp)
|
rs2151088094
|
|
NM_000548.5(TSC2):c.965C>A (p.Ser322Ter)
|
rs1345813917
|
|
NM_000548.5(TSC2):c.976-15G>A
|
rs45517150
|
|
NM_000548.5(TSC2):c.979_980dup (p.Met327fs)
|
rs397515176
|
|
NM_000548.5(TSC2):c.[4570-18_4570-6del;4570-5CA[3]]
|
|
|