ClinVar Miner

List of variants reported as not provided for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2519
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HGVS dbSNP
NC_000011.9:g.2023045G>A rs431825163
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283
NM_000053.4(ATP7B):c.2337G>A (p.Trp779Ter) rs137853282
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.4090_4091GT[1] (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000054.6(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000054.6(AVPR2):c.797T>C (p.Val266Ala) rs111643041
NM_000059.3(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000097.7(CPOX):c.814A>C (p.Asn272His) rs1131857
NM_000102.4(CYP17A1):c.297+2T>C rs764723654
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) rs104894136
NM_000143.3(FH):c.698G>A (p.Arg233His) rs121913123
NM_000169.2(GLA):c.11G>T (p.Arg4Met) rs1569306260
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.620A>C (p.Tyr207Ser) rs797044727
NM_000243.2(MEFV):c.*12T>C rs104895183
NM_000243.2(MEFV):c.*21C>G rs104895200
NM_000243.2(MEFV):c.-12C>G rs104895148
NM_000243.2(MEFV):c.1012G>C (p.Val338Leu) rs483353018
NM_000243.2(MEFV):c.1016C>T (p.Ser339Phe) rs104895157
NM_000243.2(MEFV):c.1043G>A (p.Arg348His) rs104895198
NM_000243.2(MEFV):c.1056C>T (p.Cys352=) rs104895164
NM_000243.2(MEFV):c.1060C>T (p.Arg354Trp) rs104895116
NM_000243.2(MEFV):c.1082G>C (p.Arg361Thr) rs190405488
NM_000243.2(MEFV):c.1089C>T (p.Ser363=) rs104895170
NM_000243.2(MEFV):c.1091C>T (p.Pro364Leu) rs104895214
NM_000243.2(MEFV):c.1147C>A (p.Gln383Lys) rs104895188
NM_000243.2(MEFV):c.1166A>T (p.Asp389Val) rs786205886
NM_000243.2(MEFV):c.1179C>T (p.Pro393=) rs104895082
NM_000243.2(MEFV):c.1245C>T (p.Val415=) rs104895195
NM_000243.2(MEFV):c.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1260+18G>C rs104895136
NM_000243.2(MEFV):c.1260+92G>A rs104895209
NM_000243.2(MEFV):c.1261-11T>G rs77086855
NM_000243.2(MEFV):c.1261-28A>G rs104895140
NM_000243.2(MEFV):c.1267A>G (p.Ile423Val) rs104895149
NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) rs104895151
NM_000243.2(MEFV):c.1405G>T (p.Val469Leu) rs104895173
NM_000243.2(MEFV):c.1413C>A (p.Tyr471Ter) rs104895207
NM_000243.2(MEFV):c.1420G>A (p.Glu474Lys) rs104895104
NM_000243.2(MEFV):c.1432C>T (p.His478Tyr) rs104895105
NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.2(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.2(MEFV):c.1467G>A (p.Gln489=) rs61732424
NM_000243.2(MEFV):c.1501C>G (p.Arg501Gly) rs104895101
NM_000243.2(MEFV):c.1502G>A (p.Arg501His) rs104895196
NM_000243.2(MEFV):c.1503C>T (p.Arg501=) rs76464258
NM_000243.2(MEFV):c.1516A>G (p.Ile506Val) rs104895186
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1538T>C (p.Ile513Thr) rs104895199
NM_000243.2(MEFV):c.1541G>A (p.Gly514Glu) rs104895168
NM_000243.2(MEFV):c.1587+29G>T rs104895206
NM_000243.2(MEFV):c.1587+33C>G rs146820856
NM_000243.2(MEFV):c.1675C>T (p.Leu559Phe) rs104895113
NM_000243.2(MEFV):c.1727-58T>C rs104895158
NM_000243.2(MEFV):c.1729A>T (p.Thr577Ser) rs104895193
NM_000243.2(MEFV):c.1744A>C (p.Met582Leu) rs104895165
NM_000243.2(MEFV):c.1759+8C>T rs77380520
NM_000243.2(MEFV):c.1760-28T>A rs104895169
NM_000243.2(MEFV):c.1760-4G>A rs79662406
NM_000243.2(MEFV):c.1776C>T (p.Gly592=) rs104895161
NM_000243.2(MEFV):c.1784C>T (p.Ala595Val) rs104895191
NM_000243.2(MEFV):c.1792+39G>A rs104895176
NM_000243.2(MEFV):c.1792+57C>T rs104895150
NM_000243.2(MEFV):c.1793-14A>G rs104895141
NM_000243.2(MEFV):c.1795A>G (p.Asn599Asp) rs104895210
NM_000243.2(MEFV):c.1818C>T (p.Thr606=) rs104895213
NM_000243.2(MEFV):c.1827C>G (p.Pro609=) rs104895135
NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser) rs104895128
NM_000243.2(MEFV):c.1910A>G (p.Asp637Gly) rs387907568
NM_000243.2(MEFV):c.1920C>G (p.Ile640Met) rs104895115
NM_000243.2(MEFV):c.1921A>T (p.Ile641Phe) rs104895147
NM_000243.2(MEFV):c.1937C>T (p.Pro646Leu) rs104895107
NM_000243.2(MEFV):c.1938G>A (p.Pro646=) rs104895160
NM_000243.2(MEFV):c.1946T>C (p.Leu649Pro) rs104895108
NM_000243.2(MEFV):c.1949C>A (p.Ser650Tyr) rs142748016
NM_000243.2(MEFV):c.1956C>A (p.Arg652=) rs104895084
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.195C>T (p.Tyr65=) rs104895077
NM_000243.2(MEFV):c.1967A>C (p.Glu656Ala) rs104895086
NM_000243.2(MEFV):c.1975G>T (p.Val659Phe) rs104895212
NM_000243.2(MEFV):c.1981G>A (p.Asp661Asn) rs104895120
NM_000243.2(MEFV):c.1996A>G (p.Ile666Val) rs387907566
NM_000243.2(MEFV):c.2024G>A (p.Ser675Asn) rs104895087
NM_000243.2(MEFV):c.2033G>A (p.Gly678Glu) rs104895088
NM_000243.2(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.2(MEFV):c.2042C>T (p.Thr681Ile) rs104895090
NM_000243.2(MEFV):c.2049G>A (p.Ser683=) rs104895092
NM_000243.2(MEFV):c.2053G>A (p.Glu685Lys) rs587783378
NM_000243.2(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.2(MEFV):c.2063A>G (p.Tyr688Cys) rs104895122
NM_000243.2(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.2(MEFV):c.2079G>C (p.Met693Ile) rs104895215
NM_000243.2(MEFV):c.2080A>T (p.Met694Leu) rs61752717
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2084A>T (p.Lys695Met) rs104895094
NM_000243.2(MEFV):c.2085G>C (p.Lys695Asn) rs104895208
NM_000243.2(MEFV):c.2103G>A (p.Ala701=) rs104895095
NM_000243.2(MEFV):c.2105C>G (p.Ser702Cys) rs104895166
NM_000243.2(MEFV):c.2109C>T (p.Ser703=) rs104895118
NM_000243.2(MEFV):c.2110G>A (p.Val704Ile) rs104895096
NM_000243.2(MEFV):c.2113C>T (p.Pro705Ser) rs104895145
NM_000243.2(MEFV):c.2122C>T (p.Arg708Cys) rs104895202
NM_000243.2(MEFV):c.2126T>G (p.Leu709Arg) rs104895184
NM_000243.2(MEFV):c.2149C>A (p.Arg717Ser) rs104895192
NM_000243.2(MEFV):c.2160C>G (p.Ile720Met) rs104895102
NM_000243.2(MEFV):c.2164G>A (p.Val722Met) rs104895201
NM_000243.2(MEFV):c.2169C>T (p.Asp723=) rs104895117
NM_000243.2(MEFV):c.2228T>A (p.Phe743Tyr) rs104895216
NM_000243.2(MEFV):c.2229C>G (p.Phe743Leu) rs104895152
NM_000243.2(MEFV):c.2229C>T (p.Phe743=) rs104895152
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.2(MEFV):c.2259A>G (p.Gln753=) rs104895174
NM_000243.2(MEFV):c.2263A>G (p.Ile755Val) rs104895194
NM_000243.2(MEFV):c.2272C>T (p.Pro758Ser) rs104895114
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.2(MEFV):c.2305C>G (p.Pro769Ala) rs387907565
NM_000243.2(MEFV):c.2314A>G (p.Ile772Val) rs104895163
NM_000243.2(MEFV):c.2337G>C (p.Gly779=) rs104895153
NM_000243.2(MEFV):c.2338C>A (p.Pro780Thr) rs104895154
NM_000243.2(MEFV):c.25C>T (p.Leu9=) rs104895146
NM_000243.2(MEFV):c.265G>A (p.Ala89Thr) rs104895124
NM_000243.2(MEFV):c.297C>T (p.Asn99=) rs104895175
NM_000243.2(MEFV):c.314C>A (p.Ala105Glu) rs387907569
NM_000243.2(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.2(MEFV):c.330G>A (p.Leu110=) rs104895177
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.2(MEFV):c.369C>A (p.His123Gln) rs587783379
NM_000243.2(MEFV):c.372C>T (p.Pro124=) rs104895078
NM_000243.2(MEFV):c.375G>A (p.Glu125=) rs104895142
NM_000243.2(MEFV):c.422G>T (p.Ser141Ile) rs104895130
NM_000243.2(MEFV):c.428G>C (p.Arg143Pro) rs104895190
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.443A>T (p.Glu148Val) rs104895076
NM_000243.2(MEFV):c.453G>C (p.Arg151Ser) rs104895185
NM_000243.2(MEFV):c.464G>C (p.Arg155Thr) rs483353017
NM_000243.2(MEFV):c.488A>C (p.Glu163Ala) rs104895106
NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) rs104895079
NM_000243.2(MEFV):c.515A>C (p.Gln172Pro) rs104895211
NM_000243.2(MEFV):c.524C>A (p.Pro175His) rs104895126
NM_000243.2(MEFV):c.530C>T (p.Thr177Ile) rs104895143
NM_000243.2(MEFV):c.536G>T (p.Ser179Ile) rs104895125
NM_000243.2(MEFV):c.539C>G (p.Pro180Arg) rs104895134
NM_000243.2(MEFV):c.540G>C (p.Pro180=) rs104895139
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.606_621dup (p.Ser208fs) rs104895180
NM_000243.2(MEFV):c.657C>T (p.Gly219=) rs104895182
NM_000243.2(MEFV):c.663G>C (p.Pro221=) rs104895162
NM_000243.2(MEFV):c.675G>C (p.Glu225Asp) rs104895181
NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) rs104895080
NM_000243.2(MEFV):c.688G>C (p.Glu230Gln) rs104895080
NM_000243.2(MEFV):c.694T>C (p.Tyr232His) rs104895205
NM_000243.2(MEFV):c.707G>T (p.Gly236Val) rs104895159
NM_000243.2(MEFV):c.726C>A (p.Ser242Arg) rs104895127
NM_000243.2(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_000243.2(MEFV):c.726C>T (p.Ser242=) rs104895127
NM_000243.2(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000243.2(MEFV):c.775A>G (p.Ile259Val) rs104895144
NM_000243.2(MEFV):c.800C>T (p.Thr267Ile) rs104895081
NM_000243.2(MEFV):c.803C>T (p.Ala268Val) rs104895123
NM_000243.2(MEFV):c.818C>T (p.Ser273Leu) rs483353019
NM_000243.2(MEFV):c.833G>C (p.Arg278Pro) rs104895187
NM_000243.2(MEFV):c.848C>G (p.Pro283Arg) rs104895119
NM_000243.2(MEFV):c.848C>T (p.Pro283Leu) rs104895119
NM_000243.2(MEFV):c.863C>A (p.Ser288Tyr) rs387907567
NM_000243.2(MEFV):c.866C>A (p.Ala289Glu) rs104895132
NM_000243.2(MEFV):c.866C>T (p.Ala289Val) rs104895132
NM_000243.2(MEFV):c.896A>G (p.Glu299Gly) rs104895167
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.911-22T>G rs104895189
NM_000243.2(MEFV):c.911-78T>C rs11466021
NM_000243.2(MEFV):c.926C>T (p.Thr309Met) rs104895155
NM_000243.2(MEFV):c.941G>A (p.Arg314His) rs104895204
NM_000243.2(MEFV):c.955G>A (p.Glu319Lys) rs104895110
NM_000243.2(MEFV):c.983T>C (p.Val328Ala) rs104895203
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000244.3(MEN1):c.1064+9C>T rs200517349
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000244.3(MEN1):c.507C>T (p.Ala169=) rs146759807
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000244.3(MEN1):c.951C>G (p.Tyr317Ter) rs386134260
NM_000267.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556
NM_000267.3(NF1):c.7486C>T (p.Arg2496Ter) rs866445127
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) rs137853831
NM_000276.4(OCRL):c.1060A>C (p.Asn354His) rs137853833
NM_000276.4(OCRL):c.1070G>A (p.Gly357Glu) rs137853854
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile) rs137853832
NM_000276.4(OCRL):c.1115T>G (p.Val372Gly) rs137853834
NM_000276.4(OCRL):c.1117A>T (p.Asn373Tyr) rs137853835
NM_000276.4(OCRL):c.1121C>T (p.Ser374Phe) rs137853836
NM_000276.4(OCRL):c.1123C>T (p.His375Tyr) rs137853848
NM_000276.4(OCRL):c.1241A>G (p.His414Arg) rs137853837
NM_000276.4(OCRL):c.1262G>A (p.Gly421Glu) rs137853855
NM_000276.4(OCRL):c.1270A>G (p.Asn424Asp) rs137853856
NM_000276.4(OCRL):c.1351G>A (p.Asp451Asn) rs137853838
NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly) rs137853850
NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly) rs137853839
NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser) rs137853851
NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys) rs137853840
NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly) rs137853841
NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys) rs137853262
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp) rs137853846
NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr) rs137853857
NM_000276.4(OCRL):c.1495G>C (p.Asp499His) rs137853842
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln) rs137853260
NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg) rs137853843
NM_000276.4(OCRL):c.1523T>A (p.Val508Asp) rs137853849
NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys) rs137853847
NM_000276.4(OCRL):c.1566C>G (p.Ser522Arg) rs137853853
NM_000276.4(OCRL):c.1571A>G (p.His524Arg) rs137853852
NM_000276.4(OCRL):c.1572C>G (p.His524Gln) rs137853261
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu) rs137853858
NM_000276.4(OCRL):c.1773C>A (p.Asn591Lys) rs137853844
NM_000276.4(OCRL):c.2672T>G (p.Leu891Arg) rs137853845
NM_000276.4(OCRL):c.725T>C (p.Phe242Ser) rs137853828
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr) rs137853829
NM_000276.4(OCRL):c.830A>G (p.Gln277Arg) rs137853830
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000278.5(PAX2):c.76dup (p.Val26fs) rs75462234
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220
NM_000292.3(PHKA2):c.2137+5G>A rs372314504
NM_000297.4(PKD2):c.368G>A (p.Arg123Gln)
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654
NM_000368.4(TSC1):c.*107T>C rs116917669
NM_000368.4(TSC1):c.*1332C>T rs397514841
NM_000368.4(TSC1):c.*1396T>C rs397514790
NM_000368.4(TSC1):c.*1468C>T rs72759433
NM_000368.4(TSC1):c.*1487C>T rs79277527
NM_000368.4(TSC1):c.*2230A>G rs397514781
NM_000368.4(TSC1):c.*2641G>T rs397514827
NM_000368.4(TSC1):c.*2893del rs143549363
NM_000368.4(TSC1):c.*3258G>C rs397514877
NM_000368.4(TSC1):c.*3260G>C rs397514782
NM_000368.4(TSC1):c.*358C>T rs147729052
NM_000368.4(TSC1):c.*361C>T rs397514844
NM_000368.4(TSC1):c.*3935C>T rs397514787
NM_000368.4(TSC1):c.*3936C>T rs397514853
NM_000368.4(TSC1):c.*4591G>T rs397514821
NM_000368.4(TSC1):c.*913C>T rs117425923
NM_000368.4(TSC1):c.-129A>T rs116951280
NM_000368.4(TSC1):c.-16G>A rs114970627
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.1001C>A (p.Ser334Ter) rs118203481
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1006C>T (p.Arg336Trp) rs118203483
NM_000368.4(TSC1):c.1007G>A (p.Arg336Gln) rs397514808
NM_000368.4(TSC1):c.1007_1016del (p.Arg336fs) rs397514849
NM_000368.4(TSC1):c.1020del (p.Glu340fs) rs118203484
NM_000368.4(TSC1):c.1029+1G>A rs118203485
NM_000368.4(TSC1):c.1030-1G>A rs118203489
NM_000368.4(TSC1):c.1030-3C>G rs118203488
NM_000368.4(TSC1):c.1030-9A>G rs118203487
NM_000368.4(TSC1):c.1030delG rs118203486
NM_000368.4(TSC1):c.1040G>A (p.Trp347Ter) rs118203490
NM_000368.4(TSC1):c.1047A>G (p.Pro349=) rs118203492
NM_000368.4(TSC1):c.106+15A>G rs80258442
NM_000368.4(TSC1):c.106+47A>C rs373390352
NM_000368.4(TSC1):c.107-2A>G rs118203332
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1084C>T (p.Pro362Ser) rs397514864
NM_000368.4(TSC1):c.1092_1105del rs118203494
NM_000368.4(TSC1):c.1097_1110del rs118203495
NM_000368.4(TSC1):c.1105C>T (p.Leu369=) rs118203496
NM_000368.4(TSC1):c.1110dup (p.His371fs) rs118203497
NM_000368.4(TSC1):c.1118dup (p.Tyr373Ter) rs118203499
NM_000368.4(TSC1):c.1141+1G>T rs397514819
NM_000368.4(TSC1):c.1142-33A>G rs6597586
NM_000368.4(TSC1):c.1152del (p.Gly385fs) rs118203501
NM_000368.4(TSC1):c.1166del (p.Gly389fs) rs397514832
NM_000368.4(TSC1):c.1196_1209del (p.Pro399fs) rs118203502
NM_000368.4(TSC1):c.1203del (p.His402fs) rs118203503
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.4(TSC1):c.1231C>A (p.Leu411Ile) rs397514840
NM_000368.4(TSC1):c.1249del (p.Thr417fs) rs397514792
NM_000368.4(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.4(TSC1):c.1250del (p.Thr417fs) rs397514778
NM_000368.4(TSC1):c.1263+88A>G rs118203507
NM_000368.4(TSC1):c.1264-12T>C rs118203508
NM_000368.4(TSC1):c.126A>C (p.Val42=) rs118203335
NM_000368.4(TSC1):c.1271_1272delGA (p.Arg424Asnfs) rs118203509
NM_000368.4(TSC1):c.1279del (p.Ser427fs) rs118203510
NM_000368.4(TSC1):c.1303C>T (p.Gln435Ter) rs118203511
NM_000368.4(TSC1):c.131_132dup (p.Leu45fs) rs118203337
NM_000368.4(TSC1):c.1331C>A (p.Ser444Ter) rs118203512
NM_000368.4(TSC1):c.1331C>G (p.Ser444Ter) rs118203512
NM_000368.4(TSC1):c.1333+13C>T rs118203516
NM_000368.4(TSC1):c.1333+5A>G rs118203515
NM_000368.4(TSC1):c.1333dupG rs118203514
NM_000368.4(TSC1):c.1334-55C>G rs7872606
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1338del (p.Glu446fs) rs118203517
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1343C>T (p.Pro448Leu) rs397514848
NM_000368.4(TSC1):c.1361_1398del (p.Val454fs) rs118203520
NM_000368.4(TSC1):c.1364del (p.Thr455fs) rs118203521
NM_000368.4(TSC1):c.1366_1367insGA (p.Leu456fs) rs118203522
NM_000368.4(TSC1):c.1368A>C (p.Leu456=) rs397514856
NM_000368.4(TSC1):c.1369del (p.Ser457fs) rs118203523
NM_000368.4(TSC1):c.1371T>C (p.Ser457=) rs118203524
NM_000368.4(TSC1):c.1379del (p.Pro460fs) rs118203525
NM_000368.4(TSC1):c.1411_1412insT (p.Asp471fs) rs118203526
NM_000368.4(TSC1):c.1431dup (p.Glu478fs) rs397514858
NM_000368.4(TSC1):c.1432_1433dup (p.Glu479fs) rs118203528
NM_000368.4(TSC1):c.1433A>G (p.Glu478Gly) rs118203529
NM_000368.4(TSC1):c.1438+6G>A rs118203530
NM_000368.4(TSC1):c.1439-1G>A rs397514804
NM_000368.4(TSC1):c.1439-25C>A rs397514813
NM_000368.4(TSC1):c.1439-2A>G rs118203531
NM_000368.4(TSC1):c.1439-2A>T rs118203531
NM_000368.4(TSC1):c.1439-37C>T rs10901220
NM_000368.4(TSC1):c.1452del (p.Glu485fs) rs397514797
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1462G>T (p.Glu488Ter) rs118203533
NM_000368.4(TSC1):c.1470del (p.Thr491fs) rs118203534
NM_000368.4(TSC1):c.1481dup (p.Glu495fs) rs118203535
NM_000368.4(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.4(TSC1):c.1499G>A (p.Arg500Gln) rs118203538
NM_000368.4(TSC1):c.149T>C (p.Leu50Pro) rs118203341
NM_000368.4(TSC1):c.1501G>T (p.Gly501Ter) rs118203539
NM_000368.4(TSC1):c.1503del (p.Gly502fs) rs397514876
NM_000368.4(TSC1):c.1515dup (p.Pro506fs) rs118203540
NM_000368.4(TSC1):c.1526G>A (p.Arg509Gln) rs118203543
NM_000368.4(TSC1):c.1530_1531del (p.Asp510fs) rs118203544
NM_000368.4(TSC1):c.1533del (p.Leu512fs) rs118203545
NM_000368.4(TSC1):c.153A>C (p.Glu51Asp) rs118203342
NM_000368.4(TSC1):c.1542_1543insG (p.Ser515fs) rs118203546
NM_000368.4(TSC1):c.1559del (p.His520fs) rs118203547
NM_000368.4(TSC1):c.1567G>C (p.Ala523Pro) rs118203548
NM_000368.4(TSC1):c.1572C>G (p.Ser524=) rs397514810
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.1584C>T (p.Gly528=) rs149439187
NM_000368.4(TSC1):c.1615del (p.Ser539fs) rs118203551
NM_000368.4(TSC1):c.1630_1646del rs118203552
NM_000368.4(TSC1):c.163C>T (p.Gln55Ter) rs118203343
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.1662del (p.Pro554_Ile555insTer) rs118203554
NM_000368.4(TSC1):c.1664del (p.Ile555fs) rs397514829
NM_000368.4(TSC1):c.1669C>T (p.Leu557=) rs118203555
NM_000368.4(TSC1):c.1669del (p.Leu557fs) rs118203556
NM_000368.4(TSC1):c.1676dup (p.Cys559fs) rs118203558
NM_000368.4(TSC1):c.1680_1702del (p.Ser561fs) rs118203557
NM_000368.4(TSC1):c.1680_1702dup (p.Gly568fs) rs118203557
NM_000368.4(TSC1):c.1682_1704dup rs118203560
NM_000368.4(TSC1):c.1687del (p.Asp563fs) rs118203561
NM_000368.4(TSC1):c.1692_1693del (p.Ser565fs) rs118203562
NM_000368.4(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.4(TSC1):c.1700C>T (p.Ala567Val) rs397514880
NM_000368.4(TSC1):c.1703dup (p.Asp569fs) rs397514777
NM_000368.4(TSC1):c.1717C>T (p.Gln573Ter) rs118203565
NM_000368.4(TSC1):c.1724C>T (p.Ser575Phe) rs118203566
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1727_1742del (p.Leu576fs) rs118203568
NM_000368.4(TSC1):c.1729G>T (p.Glu577Ter) rs118203570
NM_000368.4(TSC1):c.1731G>C (p.Glu577Asp) rs118203571
NM_000368.4(TSC1):c.1736del (p.Ser579fs) rs118203572
NM_000368.4(TSC1):c.1746dup (p.Pro583fs) rs118203573
NM_000368.4(TSC1):c.1749_1750del (p.Pro585fs) rs118203574
NM_000368.4(TSC1):c.1757_1765del (p.Cys586_Pro589delinsSer) rs118203575
NM_000368.4(TSC1):c.1759A>T (p.Lys587Ter) rs397514846
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1761A>G (p.Lys587=) rs118203577
NM_000368.4(TSC1):c.1766del (p.Pro589fs) rs397514811
NM_000368.4(TSC1):c.1767A>G (p.Pro589=) rs118203578
NM_000368.4(TSC1):c.1773_1774dup (p.Thr592fs) rs118203579
NM_000368.4(TSC1):c.1776G>T (p.Thr592=) rs118203580
NM_000368.4(TSC1):c.1777A>T (p.Arg593Ter) rs118203581
NM_000368.4(TSC1):c.1788del (p.Phe596fs) rs118203582
NM_000368.4(TSC1):c.1791_1792dup (p.Ser598fs) rs118203583
NM_000368.4(TSC1):c.1792dup (p.Ser598fs) rs118203583
NM_000368.4(TSC1):c.181_189del (p.Thr62_Leu64del) rs118203344
NM_000368.4(TSC1):c.1823_1824del (p.Leu607_Phe608insTer) rs118203585
NM_000368.4(TSC1):c.1823_1824dup (p.Glu609fs) rs118203585
NM_000368.4(TSC1):c.1825G>T (p.Glu609Ter) rs118203587
NM_000368.4(TSC1):c.182T>C (p.Leu61Pro) rs118203345
NM_000368.4(TSC1):c.182T>G (p.Leu61Arg) rs118203345
NM_000368.4(TSC1):c.1839A>G (p.Pro613=) rs118203588
NM_000368.4(TSC1):c.1841del (p.Lys614fs) rs118203589
NM_000368.4(TSC1):c.1849C>G (p.His617Asp) rs397514854
NM_000368.4(TSC1):c.1851del (p.His618fs) rs118203590
NM_000368.4(TSC1):c.1857del (p.Phe619fs) rs118203591
NM_000368.4(TSC1):c.1876G>T (p.Glu626Ter) rs397514815
NM_000368.4(TSC1):c.1882T>C (p.Leu628=) rs375534013
NM_000368.4(TSC1):c.1883T>A (p.Leu628Ter) rs118203592
NM_000368.4(TSC1):c.1883T>G (p.Leu628Ter) rs118203592
NM_000368.4(TSC1):c.1884_1905del (p.Lys629fs) rs397514796
NM_000368.4(TSC1):c.1886del (p.Lys629fs) rs118203594
NM_000368.4(TSC1):c.1890dup (p.Ala631fs) rs118203596
NM_000368.4(TSC1):c.1911del (p.Asp638fs) rs397514801
NM_000368.4(TSC1):c.191_199del (p.Leu64_Pro67delinsSer) rs118203346
NM_000368.4(TSC1):c.1922C>A (p.Pro641His) rs397514863
NM_000368.4(TSC1):c.1942del (p.Val648fs) rs118203600
NM_000368.4(TSC1):c.1955_1956del (p.Leu652fs) rs118203601
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.4(TSC1):c.1963C>T (p.Gln655Ter) rs118203606
NM_000368.4(TSC1):c.1964del (p.Gln655fs) rs397514793
NM_000368.4(TSC1):c.1968A>C (p.Gly656=) rs118203607
NM_000368.4(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.4(TSC1):c.1976C>T (p.Ala659Val) rs118203609
NM_000368.4(TSC1):c.1997+17C>G rs397514860
NM_000368.4(TSC1):c.1997+1G>A rs118203610
NM_000368.4(TSC1):c.1997+1G>C rs118203610
NM_000368.4(TSC1):c.1998-1G>A rs118203614
NM_000368.4(TSC1):c.1998-1G>C rs118203614
NM_000368.4(TSC1):c.1998-53G>A rs368679682
NM_000368.4(TSC1):c.1998-54C>T rs118203613
NM_000368.4(TSC1):c.1998G>A (p.Lys666=) rs118203616
NM_000368.4(TSC1):c.2006T>G (p.Leu669Ter) rs118203617
NM_000368.4(TSC1):c.2022C>T (p.Val674=) rs118203618
NM_000368.4(TSC1):c.2022del (p.Asp675fs) rs118203619
NM_000368.4(TSC1):c.2028G>A (p.Trp676Ter) rs118203621
NM_000368.4(TSC1):c.2030_2040del (p.Thr677fs) rs118203622
NM_000368.4(TSC1):c.2033_2041+14del rs397514817
NM_000368.4(TSC1):c.2039G>A (p.Gly680Glu) rs118203623
NM_000368.4(TSC1):c.2041+1G>A rs397514842
NM_000368.4(TSC1):c.2041+2T>A rs118203625
NM_000368.4(TSC1):c.2041+2T>C rs118203625
NM_000368.4(TSC1):c.2041G>A (p.Gly681Ser) rs118203624
NM_000368.4(TSC1):c.2042-2A>G rs118203628
NM_000368.4(TSC1):c.2042-5A>G rs118203627
NM_000368.4(TSC1):c.2054C>A (p.Ser685Ter) rs118203629
NM_000368.4(TSC1):c.2070_2097dup (p.Asn700fs) rs1554815323
NM_000368.4(TSC1):c.2077G>C (p.Asp693His) rs397514800
NM_000368.4(TSC1):c.2080C>T (p.Gln694Ter) rs397514789
NM_000368.4(TSC1):c.2082del (p.Gln694fs) rs118203632
NM_000368.4(TSC1):c.2090del (p.Leu697fs) rs118203633
NM_000368.4(TSC1):c.2093T>G (p.Leu698Arg) rs397514802
NM_000368.4(TSC1):c.2094del (p.His699fs) rs118203634
NM_000368.4(TSC1):c.2096_2097ins28 (p.?)
NM_000368.4(TSC1):c.2097dup (p.Asn700fs) rs118203635
NM_000368.4(TSC1):c.210+18A>G rs118203349
NM_000368.4(TSC1):c.210+1G>A rs118203348
NM_000368.4(TSC1):c.210+33G>A rs118203350
NM_000368.4(TSC1):c.2101_2102del (p.Gln701fs) rs118203637
NM_000368.4(TSC1):c.2101_2107del (p.Gln701fs) rs397514791
NM_000368.4(TSC1):c.2101del (p.Gln701fs) rs118203636
NM_000368.4(TSC1):c.2103G>T (p.Gln701His) rs118203639
NM_000368.4(TSC1):c.2103_2106del (p.Gln701fs) rs118203638
NM_000368.4(TSC1):c.2103_2109dup (p.Tyr704fs) rs118203641
NM_000368.4(TSC1):c.2104_2105insTAGTT rs118203642
NM_000368.4(TSC1):c.211-11dup rs397514775
NM_000368.4(TSC1):c.211-16T>C rs118203351
NM_000368.4(TSC1):c.211-1G>A rs118203353
NM_000368.4(TSC1):c.211-1G>T rs118203353
NM_000368.4(TSC1):c.211-2A>C rs118203352
NM_000368.4(TSC1):c.2110dup (p.Tyr704fs) rs118203644
NM_000368.4(TSC1):c.2112T>A (p.Tyr704Ter) rs118203646
NM_000368.4(TSC1):c.2128C>T (p.Gln710Ter) rs397514874
NM_000368.4(TSC1):c.2131C>T (p.Gln711Ter) rs118203647
NM_000368.4(TSC1):c.2135_2139del (p.His712fs) rs118203648
NM_000368.4(TSC1):c.2146_2153dup (p.Leu719fs) rs397514803
NM_000368.4(TSC1):c.214C>G (p.Leu72Val)
NM_000368.4(TSC1):c.2151dup (p.Arg718fs) rs118203651
NM_000368.4(TSC1):c.215T>C (p.Leu72Pro) rs118203354
NM_000368.4(TSC1):c.2164A>T (p.Lys722Ter) rs397514772
NM_000368.4(TSC1):c.2169del (p.Ile724fs) rs118203652
NM_000368.4(TSC1):c.2173_2176del (p.Lys725fs) rs118203653
NM_000368.4(TSC1):c.2175dup (p.Ala726fs) rs118203654
NM_000368.4(TSC1):c.2177C>A (p.Ala726Glu) rs118203655
NM_000368.4(TSC1):c.2191G>T (p.Glu731Ter) rs397514820
NM_000368.4(TSC1):c.2191del (p.Glu731fs) rs118203656
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2208+23G>A rs118203658
NM_000368.4(TSC1):c.2209-35A>G rs118203659
NM_000368.4(TSC1):c.2209-9C>T rs118203660
NM_000368.4(TSC1):c.2226A>G (p.Leu742=) rs397514878
NM_000368.4(TSC1):c.2227C>T (p.Gln743Ter) rs118203661
NM_000368.4(TSC1):c.2249G>A (p.Trp750Ter) rs118203662
NM_000368.4(TSC1):c.2250G>A (p.Trp750Ter) rs118203663
NM_000368.4(TSC1):c.2260C>T (p.Leu754=) rs118203664
NM_000368.4(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.4(TSC1):c.2279_2294del rs118203666
NM_000368.4(TSC1):c.227T>A (p.Ile76Asn) rs118203355
NM_000368.4(TSC1):c.2281_2284dup (p.Asn762fs) rs118203667
NM_000368.4(TSC1):c.2283C>A (p.Tyr761Ter) rs118203668
NM_000368.4(TSC1):c.2283C>G (p.Tyr761Ter) rs118203668
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2287C>T (p.Gln763Ter) rs118203671
NM_000368.4(TSC1):c.2291del (p.Leu764fs) rs118203672
NM_000368.4(TSC1):c.2293C>T (p.Gln765Ter) rs118203673
NM_000368.4(TSC1):c.2298_2320del (p.Gln767fs) rs118203674
NM_000368.4(TSC1):c.2299C>T (p.Gln767Ter) rs118203675
NM_000368.4(TSC1):c.2317del (p.Thr773fs) rs118203676
NM_000368.4(TSC1):c.2319del (p.Lys774fs) rs118203677
NM_000368.4(TSC1):c.231C>T (p.Asn77=) rs397514809
NM_000368.4(TSC1):c.2329del (p.Ser777fs) rs397514780
NM_000368.4(TSC1):c.2332C>T (p.Gln778Ter) rs118203679
NM_000368.4(TSC1):c.2341C>T (p.Gln781Ter) rs118203680
NM_000368.4(TSC1):c.2342_2343insAA (p.Leu782fs) rs397514855
NM_000368.4(TSC1):c.2347C>T (p.Gln783Ter) rs118203681
NM_000368.4(TSC1):c.2357del (p.Arg786fs) rs118203683
NM_000368.4(TSC1):c.2360_2364del (p.Glu787fs) rs118203684
NM_000368.4(TSC1):c.2362G>T (p.Glu788Ter) rs118203685
NM_000368.4(TSC1):c.2364del (p.Glu788fs) rs118203686
NM_000368.4(TSC1):c.2387dup (p.Leu796fs) rs397514786
NM_000368.4(TSC1):c.2389C>T (p.Gln797Ter) rs397514862
NM_000368.4(TSC1):c.2392-1G>A rs397514822
NM_000368.4(TSC1):c.2392-35T>C rs11243931
NM_000368.4(TSC1):c.2401G>T (p.Glu801Ter) rs118203687
NM_000368.4(TSC1):c.2407del (p.Cys803fs) rs118203688
NM_000368.4(TSC1):c.2411_2424del rs118203689
NM_000368.4(TSC1):c.2420T>C (p.Ile807Thr) rs118203690
NM_000368.4(TSC1):c.2421dup (p.Ala808fs) rs118203691
NM_000368.4(TSC1):c.2425G>C (p.Glu809Gln) rs118203692
NM_000368.4(TSC1):c.2431C>G (p.Arg811Gly) rs397514814
NM_000368.4(TSC1):c.2456_2459del (p.Asn819fs) rs118203693
NM_000368.4(TSC1):c.2468_2469insG (p.His823fs) rs118203696
NM_000368.4(TSC1):c.2468del (p.His823fs) rs118203695
NM_000368.4(TSC1):c.2471_2472del (p.Thr824fs) rs118203698
NM_000368.4(TSC1):c.2478G>C (p.Leu826=) rs149719514
NM_000368.4(TSC1):c.2485A>C (p.Ser829Arg) rs118203699
NM_000368.4(TSC1):c.2485A>T (p.Ser829Cys) rs118203699
NM_000368.4(TSC1):c.2497C>T (p.Gln833Ter) rs118203700
NM_000368.4(TSC1):c.2501dup (p.Leu835fs) rs118203701
NM_000368.4(TSC1):c.2502+51A>G rs75802666
NM_000368.4(TSC1):c.2503-1G>T rs118203705
NM_000368.4(TSC1):c.2503-21T>C rs118203703
NM_000368.4(TSC1):c.2503-2A>G rs118203704
NM_000368.4(TSC1):c.2503-35T>C rs118203702
NM_000368.4(TSC1):c.2505C>T (p.Leu835=) rs112384441
NM_000368.4(TSC1):c.2507C>G (p.Ser836Ter) rs118203706
NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) rs118203357
NM_000368.4(TSC1):c.2510dup (p.Asn837fs) rs118203709
NM_000368.4(TSC1):c.2521dup (p.Val841fs) rs397514850
NM_000368.4(TSC1):c.2523C>T (p.Val841=) rs397514825
NM_000368.4(TSC1):c.2528_2534del (p.Gln843fs) rs118203710
NM_000368.4(TSC1):c.2569dup (p.Glu857fs) rs118203712
NM_000368.4(TSC1):c.2582del (p.Leu861fs) rs397514865
NM_000368.4(TSC1):c.2595del (p.Gln865fs) rs118203714
NM_000368.4(TSC1):c.260T>G (p.Leu87Ter) rs397514776
NM_000368.4(TSC1):c.260_261insGA (p.Ser88fs) rs118203359
NM_000368.4(TSC1):c.2626-1G>A rs397514847
NM_000368.4(TSC1):c.2626-2A>G rs118203717
NM_000368.4(TSC1):c.2626-4T(17_21) rs5901000
NM_000368.4(TSC1):c.2626_2975del
NM_000368.4(TSC1):c.2626_3495del
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2647G>A (p.Ala883Thr) rs118203721
NM_000368.4(TSC1):c.2650dup (p.Tyr884fs) rs118203722
NM_000368.4(TSC1):c.2652T>A (p.Tyr884Ter) rs397514805
NM_000368.4(TSC1):c.2653C>T (p.Arg885Trp) rs118203723
NM_000368.4(TSC1):c.2657_2658del (p.Lys886fs) rs397514788
NM_000368.4(TSC1):c.2658del (p.Glu887fs) rs397514788
NM_000368.4(TSC1):c.2671_2672dup (p.Asn891fs) rs118203724
NM_000368.4(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.4(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.4(TSC1):c.2694del (p.Thr899fs) rs118203729
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.2699del (p.Gln900fs) rs118203731
NM_000368.4(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.4(TSC1):c.272C>A (p.Ser91Ter) rs118203361
NM_000368.4(TSC1):c.2749G>C (p.Ala917Pro) rs397514873
NM_000368.4(TSC1):c.276_277insAA (p.Leu93fs) rs118203362
NM_000368.4(TSC1):c.2776C>T (p.Gln926Ter) rs397514879
NM_000368.4(TSC1):c.2781G>A (p.Lys927=) rs118203733
NM_000368.4(TSC1):c.2781_2784del (p.Lys927fs) rs397514845
NM_000368.4(TSC1):c.278T>G (p.Leu93Arg) rs118203363
NM_000368.4(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.4(TSC1):c.2813+3_2813+21del rs118203737
NM_000368.4(TSC1):c.2813_2813+4del rs118203736
NM_000368.4(TSC1):c.2814-27A>G rs118203738
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2829_2830insGGCCT rs118203739
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.2976-18T>C rs397514866
NM_000368.4(TSC1):c.2976-43G>C rs7853849
NM_000368.4(TSC1):c.2976-54G>A rs118203740
NM_000368.4(TSC1):c.308G>A (p.Trp103Ter) rs118203364
NM_000368.4(TSC1):c.309G>A (p.Trp103Ter) rs118203365
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3147G>C (p.Glu1049Asp) rs397514831
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.3195G>A (p.Thr1065=) rs118203746
NM_000368.4(TSC1):c.3216C>T (p.Ala1072=) rs118203747
NM_000368.4(TSC1):c.3231T>C (p.Thr1077=) rs118203748
NM_000368.4(TSC1):c.325C>T (p.Gln109Ter) rs397514774
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3290G>A (p.Arg1097His) rs118203750
NM_000368.4(TSC1):c.3303G>A (p.Glu1101=) rs118203751
NM_000368.4(TSC1):c.3321C>T (p.Asp1107=) rs118203752
NM_000368.4(TSC1):c.3322G>A (p.Gly1108Ser) rs118203753
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.350T>C (p.Leu117Pro) rs118203368
NM_000368.4(TSC1):c.362A>G (p.Lys121Arg) rs118203369
NM_000368.4(TSC1):c.363+1G>A rs118203372
NM_000368.4(TSC1):c.363+1G>T rs118203372
NM_000368.4(TSC1):c.363+47T>C rs118203375
NM_000368.4(TSC1):c.363+5G>A rs118203374
NM_000368.4(TSC1):c.363G>A (p.Lys121=) rs118203370
NM_000368.4(TSC1):c.364-1G>C rs118203376
NM_000368.4(TSC1):c.372dup (p.Asp125Ter) rs118203377
NM_000368.4(TSC1):c.376G>A (p.Val126Ile) rs397514843
NM_000368.4(TSC1):c.385dup (p.Leu129fs) rs397514852
NM_000368.4(TSC1):c.395G>A (p.Gly132Asp) rs397514784
NM_000368.4(TSC1):c.396C>T (p.Gly132=) rs368922726
NM_000368.4(TSC1):c.397G>A (p.Val133Ile) rs118203381
NM_000368.4(TSC1):c.397G>T (p.Val133Phe) rs118203381
NM_000368.4(TSC1):c.433C>T (p.Gln145Ter) rs118203382
NM_000368.4(TSC1):c.445C>T (p.Gln149Ter) rs118203384
NM_000368.4(TSC1):c.473T>C (p.Phe158Ser) rs118203385
NM_000368.4(TSC1):c.491G>A (p.Trp164Ter) rs118203387
NM_000368.4(TSC1):c.504del (p.Lys168fs) rs118203389
NM_000368.4(TSC1):c.508+1G>A rs118203390
NM_000368.4(TSC1):c.508+1G>C rs118203390
NM_000368.4(TSC1):c.509-15G>A rs118203391
NM_000368.4(TSC1):c.520G>T (p.Glu174Ter) rs118203392
NM_000368.4(TSC1):c.526_527del rs118203394
NM_000368.4(TSC1):c.530del (p.Leu177fs) rs397514794
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.539T>C (p.Leu180Pro) rs118203396
NM_000368.4(TSC1):c.542A>C (p.His181Pro) rs397515294
NM_000368.4(TSC1):c.552G>C (p.Val184=) rs118203397
NM_000368.4(TSC1):c.555C>T (p.Tyr185=) rs118203398
NM_000368.4(TSC1):c.563_564del (p.Phe188fs) rs118203399
NM_000368.4(TSC1):c.569G>C (p.Arg190Pro) rs118203402
NM_000368.4(TSC1):c.572T>A (p.Leu191His) rs118203403
NM_000368.4(TSC1):c.572T>G (p.Leu191Arg) rs118203403
NM_000368.4(TSC1):c.575del (p.Tyr192fs) rs118203405
NM_000368.4(TSC1):c.576T>G (p.Tyr192Ter) rs118203406
NM_000368.4(TSC1):c.585C>A (p.Tyr195Ter) rs118203407
NM_000368.4(TSC1):c.590dup (p.Cys197fs) rs397514868
NM_000368.4(TSC1):c.591dup (p.Asn198fs) rs397514836
NM_000368.4(TSC1):c.593_595del (p.Asn198_Phe199delinsIle) rs118203408
NM_000368.4(TSC1):c.597_603del (p.Val200fs) rs118203409
NM_000368.4(TSC1):c.598G>A (p.Val200Ile) rs118203410
NM_000368.4(TSC1):c.599dup (p.Ser201fs) rs118203411
NM_000368.4(TSC1):c.602_604del (p.Ser201del) rs118203412
NM_000368.4(TSC1):c.607_608dup (p.Leu203fs) rs118203413
NM_000368.4(TSC1):c.611G>C (p.Arg204Pro) rs397514834
NM_000368.4(TSC1):c.615T>C (p.Ser205=) rs118203414
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.624del (p.Ser208fs) rs397514837
NM_000368.4(TSC1):c.647T>C (p.Phe216Ser) rs118203416
NM_000368.4(TSC1):c.647_648del (p.Thr215_Phe216insTer) rs118203417
NM_000368.4(TSC1):c.648del (p.Phe216fs) rs118203417
NM_000368.4(TSC1):c.654dup (p.Val219fs) rs118203418
NM_000368.4(TSC1):c.663+10A>C rs397514833
NM_000368.4(TSC1):c.663+29A>G rs376472527
NM_000368.4(TSC1):c.663+39dup rs118203421
NM_000368.4(TSC1):c.663+7T>A rs118203420
NM_000368.4(TSC1):c.664-15A>G rs118203422
NM_000368.4(TSC1):c.664-1G>C rs118203423
NM_000368.4(TSC1):c.665del (p.Pro222fs) rs118203425
NM_000368.4(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.4(TSC1):c.694G>T (p.Glu232Ter) rs118203429
NM_000368.4(TSC1):c.694del (p.Glu232fs) rs118203428
NM_000368.4(TSC1):c.709dup (p.Ser237fs) rs118203430
NM_000368.4(TSC1):c.712A>T (p.Lys238Ter) rs397514816
NM_000368.4(TSC1):c.720_721insA (p.Glu241fs) rs118203431
NM_000368.4(TSC1):c.724C>T (p.Leu242=) rs118203432
NM_000368.4(TSC1):c.732del (p.Arg245fs) rs118203433
NM_000368.4(TSC1):c.737+1G>A rs118203438
NM_000368.4(TSC1):c.737+1G>T rs118203438
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.4(TSC1):c.737G>C (p.Arg246Thr) rs118203436
NM_000368.4(TSC1):c.738-20A>G rs397514824
NM_000368.4(TSC1):c.738-2A>G rs118203440
NM_000368.4(TSC1):c.738-36_747del rs397514839
NM_000368.4(TSC1):c.742A>T (p.Lys248Ter) rs118203442
NM_000368.4(TSC1):c.745A>T (p.Arg249Ter) rs118203443
NM_000368.4(TSC1):c.745del (p.Arg249fs) rs118203444
NM_000368.4(TSC1):c.749T>A (p.Leu250Ter) rs118203447
NM_000368.4(TSC1):c.749T>G (p.Leu250Ter) rs118203447
NM_000368.4(TSC1):c.749del (p.Arg249_Leu250insTer) rs118203445
NM_000368.4(TSC1):c.749dup (p.Leu250fs) rs118203445
NM_000368.4(TSC1):c.771del (p.Ile257fs) rs118203449
NM_000368.4(TSC1):c.772G>T (p.Glu258Ter) rs118203450
NM_000368.4(TSC1):c.813T>A (p.Tyr271Ter) rs118203452
NM_000368.4(TSC1):c.814G>T (p.Glu272Ter) rs397514872
NM_000368.4(TSC1):c.824_825dup (p.Ser276fs) rs118203453
NM_000368.4(TSC1):c.825T>G (p.Tyr275Ter) rs118203454
NM_000368.4(TSC1):c.829_830GT[1] (p.His279fs) rs118203455
NM_000368.4(TSC1):c.838C>T (p.Gln280Ter) rs118203458
NM_000368.4(TSC1):c.845C>A (p.Ser282Ter) rs118203459
NM_000368.4(TSC1):c.846dup (p.Ala283fs) rs118203460
NM_000368.4(TSC1):c.853T>G (p.Phe285Val) rs377076733
NM_000368.4(TSC1):c.891T>A (p.Tyr297Ter) rs118203461
NM_000368.4(TSC1):c.891T>G (p.Tyr297Ter) rs118203461
NM_000368.4(TSC1):c.901C>T (p.Gln301Ter) rs118203463
NM_000368.4(TSC1):c.901_913+1del rs118203465
NM_000368.4(TSC1):c.912T>G (p.Tyr304Ter) rs118203466
NM_000368.4(TSC1):c.912_913+5del rs118203467
NM_000368.4(TSC1):c.913+1G>A rs118203470
NM_000368.4(TSC1):c.913G>A (p.Gly305Arg) rs118203468
NM_000368.4(TSC1):c.913G>T (p.Gly305Trp) rs118203468
NM_000368.4(TSC1):c.914-18T>C rs118203471
NM_000368.4(TSC1):c.915G>A (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.921T>C (p.Ala307=) rs397514826
NM_000368.4(TSC1):c.936C>A (p.Tyr312Ter) rs118203472
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000368.4(TSC1):c.966G>A (p.Met322Ile) rs397514807
NM_000368.4(TSC1):c.972G>A (p.Gly324=) rs118203473
NM_000368.4(TSC1):c.983dup (p.Thr329fs) rs118203475
NM_000368.4(TSC1):c.988dup (p.Leu330fs) rs118203476
NM_000368.4(TSC1):c.989del (p.Leu330fs) rs397514870
NM_000368.4(TSC1):c.994_995insA (p.Ser332fs) rs118203480
NM_000368.5(TSC1):c.1257del (p.Arg420fs) rs118203506
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.1580_1581del (p.Gln527fs) rs118203550
NM_000368.5(TSC1):c.1884_1887AAAG[1] (p.Lys630fs)
NM_000368.5(TSC1):c.1959dup (p.Gln654fs) rs118203603
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
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.269_270TC[1] (p.Ser91fs) rs118203360
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.866C>G (p.Ser289Ter) rs397514867
NM_000368.5(TSC1):c.897_898CA[2] (p.Gln301fs) rs118203464
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
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603
NM_000486.5(AQP2):c.439G>A (p.Ala147Thr) rs104894334
NM_000486.5(AQP2):c.450T>A (p.Asp150Glu) rs770932012
NM_000488.3(SERPINC1):c.-11G>A rs483352843
NM_000488.3(SERPINC1):c.-35C>T rs200460215
NM_000488.3(SERPINC1):c.1016G>A (p.Trp339Ter) rs483352856
NM_000488.3(SERPINC1):c.1154-7C>A rs483352858
NM_000488.3(SERPINC1):c.116_123del (p.Ile39fs) rs483352844
NM_000488.3(SERPINC1):c.1213C>A (p.Leu405Ile) rs483352859
NM_000488.3(SERPINC1):c.409-24A>C rs483352849
NM_000488.3(SERPINC1):c.42-12G>A rs483352845
NM_000488.3(SERPINC1):c.458T>A (p.Phe153Tyr) rs483352848
NM_000488.3(SERPINC1):c.491G>A (p.Arg164Gln) rs483352852
NM_000488.3(SERPINC1):c.506C>T (p.Ser169Phe) rs483352851
NM_000488.3(SERPINC1):c.536T>A (p.Phe179Tyr) rs483352847
NM_000488.3(SERPINC1):c.598G>C (p.Ala200Pro) rs483352853
NM_000488.3(SERPINC1):c.624+11G>A rs483352846
NM_000488.3(SERPINC1):c.641C>A (p.Ser214Tyr) rs483352854
NM_000488.3(SERPINC1):c.849_853dup (p.Tyr285Ter) rs483352857
NM_000495.5(COL4A5):c.1032+3_1032+6del rs104886314
NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) rs146124466
NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.427C>T (p.Arg143Trp) rs140336749
NM_000497.3(CYP11B1):c.896T>C (p.Leu299Pro) rs387907573
NM_000497.3(CYP11B1):c.917C>T (p.Ala306Val) rs387907572
NM_000497.3(CYP11B1):c.928G>A (p.Glu310Lys) rs387907574
NM_000497.3(CYP11B1):c.995G>A (p.Arg332Gln) rs149881706
NM_000500.9(CYP21A2):c.293-13C>T rs6467
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472
NM_000518.4(HBB):c.-80del rs397509430
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000548.3(TSC2):c.(1445_1599)del (p.Glu(1445_1599)Glyfs)
NM_000548.3(TSC2):c.1258-?_1599+?del (p.?)
NM_000548.3(TSC2):c.2021_2022insA (p.Ala675Cysfs) rs606231381
NM_000548.3(TSC2):c.4034_4035insCTTA (p.Lys1345Asnfs) rs137854341
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.3(TSC2):c.5068+27_5069-47dup34 rs137854209
NM_000548.3(TSC2):c.567_568dup (p.Tyr190Phefs) rs137854332
NM_000548.3(TSC2):c.[3623_3647del;3745_3756dup]
NM_000548.3(TSC2):c.[4358_4359delCC; 4361_4372del12]
NM_000548.3(TSC2):c.[4621_4629del9;4621_4634ins14]
NM_000548.3(TSC2):c.[976-20T>A;976-17_976-1dup]
NM_000548.3:c.*61insG
NM_000548.3:c.3673_3674insNNNNN rs1567510271
NM_000548.3:c.3884-15G>A
NM_000548.3:c.971_1027del
NM_000548.3:c.[2355+2_2355+5del(+)2355+6_2355+15dup]
NM_000548.4(TSC2):c.*67_*69delTGAins5
NM_000548.4(TSC2):c.139_140del (p.Glu47Thrfs) rs137853979
NM_000548.4(TSC2):c.1717_1839del (p.Thr573_Gln613del) rs137854119
NM_000548.4(TSC2):c.2647_2648ins24
NM_000548.4(TSC2):c.2836_2837ins37
NM_000548.4(TSC2):c.2967-?_3610+?del
NM_000548.4(TSC2):c.3124_3125ins20
NM_000548.4(TSC2):c.3401delG (p.Gly1134Alafs) rs137854314
NM_000548.4(TSC2):c.3611_3627dup (p.Met1210Glyfs) rs137854088
NM_000548.4(TSC2):c.3612del (p.Asn1205Thrfs) rs397515150
NM_000548.4(TSC2):c.4403_4404ins27
NM_000548.4(TSC2):c.4598_4599ins29
NM_000548.4(TSC2):c.4663_4664del (p.Ser1555Glnfs) rs137854118
NM_000548.4(TSC2):c.4920_4921ins17
NM_000548.4(TSC2):c.4991delG (p.Gly1664Alafs) rs137854064
NM_000548.5(TSC2):c.*127T>C rs34379884
NM_000548.5(TSC2):c.*127T>G rs34379884
NM_000548.5(TSC2):c.*128G>A rs730882074
NM_000548.5(TSC2):c.*145del rs202247051
NM_000548.5(TSC2):c.*154dup rs397514891
NM_000548.5(TSC2):c.*26G>A rs13332015
NM_000548.5(TSC2):c.*55_*58TAAA[1] rs137854184
NM_000548.5(TSC2):c.*61_*62del rs36032671
NM_000548.5(TSC2):c.*62_*63del rs397515122
NM_000548.5(TSC2):c.*6G>A rs397515008
NM_000548.5(TSC2):c.*71C>A rs45498900
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala) rs45484892
NM_000548.5(TSC2):c.1001T>G (p.Val334Gly) rs45484892
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys) rs45517144
NM_000548.5(TSC2):c.1005C>G (p.Ser335=) rs397514924
NM_000548.5(TSC2):c.1007_1008del (p.Ser335_Tyr336insTer) rs397515002
NM_000548.5(TSC2):c.1009G>A (p.Glu337Lys) rs45517145
NM_000548.5(TSC2):c.1009G>T (p.Glu337Ter) rs45517145
NM_000548.5(TSC2):c.1011_1014delinsCATGGCAT (p.Glu337fs) rs137854269
NM_000548.5(TSC2):c.1019T>C (p.Leu340Pro) rs397515192
NM_000548.5(TSC2):c.1029C>T (p.Thr343=) rs45468201
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) rs397515146
NM_000548.5(TSC2):c.1034T>G (p.Leu345Arg) rs45451295
NM_000548.5(TSC2):c.103C>T (p.Gln35Ter) rs137854105
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg) rs367963898
NM_000548.5(TSC2):c.1042A>T (p.Lys348Ter) rs45517146
NM_000548.5(TSC2):c.1060C>T (p.Gln354Ter) rs45469896
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.5(TSC2):c.1080dup (p.Leu361fs) rs397515198
NM_000548.5(TSC2):c.1082T>C (p.Leu361Pro) rs45517147
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) rs137854345
NM_000548.5(TSC2):c.1090_1092ATC[1] (p.Ile365del) rs137854367
NM_000548.5(TSC2):c.1094_1095del (p.Ile365fs) rs137854423
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1099del (p.Arg367fs) rs397515273
NM_000548.5(TSC2):c.109dup (p.Glu37fs) rs137854178
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1100G>C (p.Arg367Pro) rs1800725
NM_000548.5(TSC2):c.1101G>A (p.Arg367=) rs45517149
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter) rs45469099
NM_000548.5(TSC2):c.1117C>T (p.Gln373Ter) rs45458694
NM_000548.5(TSC2):c.1118A>C (p.Gln373Pro) rs397515131
NM_000548.5(TSC2):c.1119+1G>A rs45475793
NM_000548.5(TSC2):c.1119+23G>A rs180840428
NM_000548.5(TSC2):c.1119+2T>G rs137854173
NM_000548.5(TSC2):c.1119+6G>C rs397515305
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu) rs45517154
NM_000548.5(TSC2):c.1135del (p.Glu379fs) rs137854072
NM_000548.5(TSC2):c.1142G>A (p.Arg381Lys) rs45465395
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155
NM_000548.5(TSC2):c.1143_1174del (p.Thr382fs) rs137854007
NM_000548.5(TSC2):c.1143del (p.Thr382fs) rs397514970
NM_000548.5(TSC2):c.114del (p.Phe38fs) rs137854355
NM_000548.5(TSC2):c.114dup (p.Ile39fs) rs137854355
NM_000548.5(TSC2):c.1150G>A (p.Val384Ile) rs397514881
NM_000548.5(TSC2):c.1151T>A (p.Val384Asp) rs397515214
NM_000548.5(TSC2):c.115del (p.Ile39fs) rs397515078
NM_000548.5(TSC2):c.1160T>C (p.Leu387Pro) rs397515123
NM_000548.5(TSC2):c.1160_1167del (p.Leu387fs) rs137854398
NM_000548.5(TSC2):c.1167del (p.Thr390fs) rs137854283
NM_000548.5(TSC2):c.120del (p.Thr41fs) rs397515085
NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter) rs45457701
NM_000548.5(TSC2):c.1219T>G (p.Tyr407Asp) rs45517156
NM_000548.5(TSC2):c.1220_1221del (p.Tyr407fs) rs137854080
NM_000548.5(TSC2):c.1220_1240del (p.Tyr407_Arg413del) rs137853998
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter) rs397514897
NM_000548.5(TSC2):c.1224dup (p.Glu409Ter) rs137854089
NM_000548.5(TSC2):c.1226_1230del (p.Glu409fs) rs137854127
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.1234del (p.Glu412fs) rs397515027
NM_000548.5(TSC2):c.1235A>T (p.Glu412Val) rs137854026
NM_000548.5(TSC2):c.1246G>T (p.Asp416Tyr) rs45517157
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter) rs45517158
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser) rs45517159
NM_000548.5(TSC2):c.1257+107dup rs397514987
NM_000548.5(TSC2):c.1257+1G>A rs397515066
NM_000548.5(TSC2):c.1257+21G>A rs397514998
NM_000548.5(TSC2):c.1257+221_1257+226del rs137854370
NM_000548.5(TSC2):c.1257+2T>C rs45509697
NM_000548.5(TSC2):c.1257+2T>G rs45509697
NM_000548.5(TSC2):c.1258-1G>A rs397515182
NM_000548.5(TSC2):c.1258-2A>C rs45517160
NM_000548.5(TSC2):c.1258-30G>T rs397515172
NM_000548.5(TSC2):c.1258-32C>G rs137854285
NM_000548.5(TSC2):c.1258-32dup rs397515240
NM_000548.5(TSC2):c.1258-3C>G rs45517161
NM_000548.5(TSC2):c.1266_1267del (p.Leu423fs) rs137854238
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1281C>G (p.Ile427Met) rs45478892
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1287T>G (p.Tyr429Ter) rs45493394
NM_000548.5(TSC2):c.1293G>A (p.Ala431=) rs45517162
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys) rs397515187
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter) rs45515894
NM_000548.5(TSC2):c.1336C>T (p.Gln446Ter) rs45517163
NM_000548.5(TSC2):c.1337_1340dup (p.Leu448fs) rs137854318
NM_000548.5(TSC2):c.1337del (p.Gln446fs) rs137854311
NM_000548.5(TSC2):c.133_136del (p.Leu45fs) rs137854360
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1347G>C (p.Met449Ile) rs45443091
NM_000548.5(TSC2):c.1348G>T (p.Glu450Ter) rs45491095
NM_000548.5(TSC2):c.1348_1349GA[2] (p.Arg451fs) rs397515082
NM_000548.5(TSC2):c.1361+1G>A rs45517164
NM_000548.5(TSC2):c.1361+2T>C rs397515301
NM_000548.5(TSC2):c.1361+2T>G rs397515301
NM_000548.5(TSC2):c.1361+54_1361+57del rs137854304
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1362-2A>G rs45517165
NM_000548.5(TSC2):c.1362-30dup rs137853980
NM_000548.5(TSC2):c.1362-32C>G rs45517166
NM_000548.5(TSC2):c.1362-4G>A rs397515145
NM_000548.5(TSC2):c.1362-62G>C rs45517167
NM_000548.5(TSC2):c.1362-70A>C rs45517168
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys) rs397515142
NM_000548.5(TSC2):c.136A>T (p.Arg46Ter) rs137854266
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.1377C>T (p.Gly459=) rs45517170
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.5(TSC2):c.138+1G>A rs45517091
NM_000548.5(TSC2):c.138+20C>G rs45517092
NM_000548.5(TSC2):c.138+2T>C rs137854226
NM_000548.5(TSC2):c.138+2_138+3del rs397515056
NM_000548.5(TSC2):c.138+5G>A rs45481400
NM_000548.5(TSC2):c.1383_1384GC[3] (p.Ile463fs) rs397515037
NM_000548.5(TSC2):c.1384C>T (p.Arg462Cys) rs397515261
NM_000548.5(TSC2):c.1385G>A (p.Arg462His) rs45494392
NM_000548.5(TSC2):c.1385_1386delinsCT (p.Arg462Pro) rs137854323
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.138_138+1del rs137854117
NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro) rs45481199
NM_000548.5(TSC2):c.1397T>G (p.Leu466Arg) rs45481199
NM_000548.5(TSC2):c.13A>G (p.Thr5Ala) rs45517093
NM_000548.5(TSC2):c.1407del (p.Ser470fs) rs137854390
NM_000548.5(TSC2):c.1410del (p.Phe471fs) rs137854066
NM_000548.5(TSC2):c.141A>T (p.Glu47Asp) rs137854133
NM_000548.5(TSC2):c.1425del (p.Asn476fs) rs397515234
NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter) rs121964862
NM_000548.5(TSC2):c.1440T>G (p.Tyr480Ter) rs45514794
NM_000548.5(TSC2):c.1443+18C>T rs375947241
NM_000548.5(TSC2):c.1443+1G>T rs397515257
NM_000548.5(TSC2):c.1443+2T>G rs397515064
NM_000548.5(TSC2):c.1443+4C>T rs45517172
NM_000548.5(TSC2):c.1443G>A (p.Glu481=) rs137854876
NM_000548.5(TSC2):c.1444-13T>C rs45447093
NM_000548.5(TSC2):c.1444-14T>C rs45517173
NM_000548.5(TSC2):c.1444-1G>A rs45515902
NM_000548.5(TSC2):c.1444-1G>T rs45515902
NM_000548.5(TSC2):c.1444-2A>G rs45517174
NM_000548.5(TSC2):c.1444-40G>A rs45460191
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) rs397515297
NM_000548.5(TSC2):c.1457A>T (p.Asn486Ile) rs45486599
NM_000548.5(TSC2):c.1468A>G (p.Ile490Val) rs45517175
NM_000548.5(TSC2):c.1472C>A (p.Ser491Ter) rs45517176
NM_000548.5(TSC2):c.1477C>G (p.Leu493Val) rs45517177
NM_000548.5(TSC2):c.1478T>C (p.Leu493Pro) rs397515029
NM_000548.5(TSC2):c.1479C>T (p.Leu493=) rs137854145
NM_000548.5(TSC2):c.1491del (p.Glu498fs) rs137854346
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys) rs45517178
NM_000548.5(TSC2):c.1492G>T (p.Glu498Ter) rs45517178
NM_000548.5(TSC2):c.1505del (p.His502fs) rs397514948
NM_000548.5(TSC2):c.1507C>T (p.Gln503Ter) rs397514929
NM_000548.5(TSC2):c.1508del (p.Gln503fs) rs397514993
NM_000548.5(TSC2):c.1508dup (p.Val504fs) rs397515210
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln) rs376285784
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.5(TSC2):c.1546del (p.Ala516fs) rs397515272
NM_000548.5(TSC2):c.1555del (p.Cys519fs) rs137854275
NM_000548.5(TSC2):c.1563dup (p.His522fs) rs137854023
NM_000548.5(TSC2):c.1564C>T (p.His522Tyr) rs397514991
NM_000548.5(TSC2):c.1564del (p.His522fs) rs137854297
NM_000548.5(TSC2):c.1564dup (p.His522fs) rs397515016
NM_000548.5(TSC2):c.1565A>C (p.His522Pro) rs397515147
NM_000548.5(TSC2):c.1566_1567dup (p.His523fs) rs397514961
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.5(TSC2):c.1579_1582del (p.Leu527fs) rs137854246
NM_000548.5(TSC2):c.1583T>C (p.Leu528Pro) rs397514922
NM_000548.5(TSC2):c.1583_1584del (p.Leu528fs) rs397514885
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180
NM_000548.5(TSC2):c.1599+16C>T rs45517181
NM_000548.5(TSC2):c.1599+1G>A rs45517182
NM_000548.5(TSC2):c.1599+1G>T rs45517182
NM_000548.5(TSC2):c.1599+2T>C rs45517183
NM_000548.5(TSC2):c.1599+5G>A rs397515100
NM_000548.5(TSC2):c.1599+82_1599+84del rs397515135
NM_000548.5(TSC2):c.1599G>A (p.Lys533=) rs1555502589
NM_000548.5(TSC2):c.1599G>C (p.Lys533Asn) rs1555502589
NM_000548.5(TSC2):c.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1600-21G>C rs137854149
NM_000548.5(TSC2):c.1600-30dup rs397515089
NM_000548.5(TSC2):c.1600-39C>T rs45477195
NM_000548.5(TSC2):c.1600-3A>G rs45517186
NM_000548.5(TSC2):c.1607C>T (p.Ala536Val) rs45517187
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684
NM_000548.5(TSC2):c.1610_1622del (p.Arg537fs) rs397515148
NM_000548.5(TSC2):c.1611C>T (p.Arg537=) rs45469702
NM_000548.5(TSC2):c.1616_1628del (p.Leu539fs) rs137854281
NM_000548.5(TSC2):c.1616del (p.Leu539fs) rs137854100
NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu) rs45517188
NM_000548.5(TSC2):c.1628dup (p.Glu544fs) rs397515204
NM_000548.5(TSC2):c.1630del (p.Glu544fs) rs397514931
NM_000548.5(TSC2):c.1632G>T (p.Glu544Asp) rs137854075
NM_000548.5(TSC2):c.1642_1643del (p.Arg548fs) rs137854342
NM_000548.5(TSC2):c.1649_1650insACAT (p.Ala551fs) rs137854245
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515
NM_000548.5(TSC2):c.1661C>A (p.Ser554Ter) rs45471596
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268
NM_000548.5(TSC2):c.1693del (p.Leu565fs) rs137854087
NM_000548.5(TSC2):c.1698_1716+1del rs397515151
NM_000548.5(TSC2):c.1708A>G (p.Ile570Val) rs397515230
NM_000548.5(TSC2):c.1708_1710dup (p.Ile570dup) rs137854041
NM_000548.5(TSC2):c.170G>A (p.Arg57His) rs397514949
NM_000548.5(TSC2):c.1712T>C (p.Leu571Pro) rs397515093
NM_000548.5(TSC2):c.1716+10C>A rs45464995
NM_000548.5(TSC2):c.1716+16G>A rs45517189
NM_000548.5(TSC2):c.1716+1G>A rs45517190
NM_000548.5(TSC2):c.1716+28C>A rs371524563
NM_000548.5(TSC2):c.1716+5del rs137854417
NM_000548.5(TSC2):c.1716G>A (p.Gln572=) rs397514917
NM_000548.5(TSC2):c.1717-16C>T rs45517191
NM_000548.5(TSC2):c.1717-1G>A rs45517192
NM_000548.5(TSC2):c.1717-1G>T rs45517192
NM_000548.5(TSC2):c.1717-23T>G rs45517193
NM_000548.5(TSC2):c.1717-27G>A rs45517194
NM_000548.5(TSC2):c.1717-28C>T rs45517195
NM_000548.5(TSC2):c.1717-30G>A rs45500703
NM_000548.5(TSC2):c.1717-55T>C rs7187438
NM_000548.5(TSC2):c.171del (p.Ile58fs) rs397515042
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala) rs45517196
NM_000548.5(TSC2):c.1737_1814del (p.Ala580_Pro605del) rs137854373
NM_000548.5(TSC2):c.1741dup (p.Ser581fs) rs137854348
NM_000548.5(TSC2):c.1742G>A (p.Ser581Asn) rs45517197
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1752G>A (p.Thr584=) rs141285742
NM_000548.5(TSC2):c.1754G>A (p.Arg585His) rs397515063
NM_000548.5(TSC2):c.1754_1755GT[4] (p.Tyr587fs) rs397515116
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer) rs137854371
NM_000548.5(TSC2):c.1769T>C (p.Leu590Pro) rs137854229
NM_000548.5(TSC2):c.1771del (p.Val591fs) rs137854418
NM_000548.5(TSC2):c.1778A>G (p.His593Arg) rs45517198
NM_000548.5(TSC2):c.1783C>T (p.Gln595Ter) rs45517199
NM_000548.5(TSC2):c.1787T>C (p.Leu596Pro) rs45517200
NM_000548.5(TSC2):c.1789C>T (p.His597Tyr) rs397515246
NM_000548.5(TSC2):c.1789_1791dup (p.His597dup) rs397514965
NM_000548.5(TSC2):c.1790A>G (p.His597Arg) rs137854322
NM_000548.5(TSC2):c.1791_1795del (p.His597fs) rs137854165
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) rs45517201
NM_000548.5(TSC2):c.1792_1794del (p.Tyr598del) rs397515083
NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys) rs45509791
NM_000548.5(TSC2):c.1794C>G (p.Tyr598Ter) rs45509094
NM_000548.5(TSC2):c.1794C>T (p.Tyr598=) rs45509094
NM_000548.5(TSC2):c.1796A>T (p.Lys599Met) rs45517202
NM_000548.5(TSC2):c.1796del (p.Lys599fs) rs137854125
NM_000548.5(TSC2):c.1804dup (p.Tyr602fs) rs397515132
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.5(TSC2):c.1819G>T (p.Ala607Ser) rs45517203
NM_000548.5(TSC2):c.1820C>A (p.Ala607Glu) rs397515296
NM_000548.5(TSC2):c.1821G>A (p.Ala607=) rs149543046
NM_000548.5(TSC2):c.1823_1825GCA[3] (p.Ser609dup) rs137854260
NM_000548.5(TSC2):c.1831C>G (p.Arg611Gly) rs45469298
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.1837C>T (p.Gln613Ter) rs45480292
NM_000548.5(TSC2):c.1839+1G>A rs45438400
NM_000548.5(TSC2):c.1839+1G>C rs45438400
NM_000548.5(TSC2):c.1839+1G>T rs45438400
NM_000548.5(TSC2):c.1839+46G>A rs397515180
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.1840-1G>A rs397514953
NM_000548.5(TSC2):c.1840-1G>C rs397514953
NM_000548.5(TSC2):c.1840-2A>G rs45517205
NM_000548.5(TSC2):c.1840-2A>T rs45517205
NM_000548.5(TSC2):c.1840-3C>G rs397515154
NM_000548.5(TSC2):c.1840G>T (p.Ala614Ser) rs397515199
NM_000548.5(TSC2):c.1841C>A (p.Ala614Asp) rs45454398
NM_000548.5(TSC2):c.1844T>C (p.Phe615Ser) rs45481105
NM_000548.5(TSC2):c.1844_1845del (p.Ala614_Phe615insTer) rs137854248
NM_000548.5(TSC2):c.1856_1858TGC[2] (p.Leu621del) rs397515195
NM_000548.5(TSC2):c.185G>A (p.Gly62Glu) rs397515045
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397
NM_000548.5(TSC2):c.1862T>C (p.Leu621Pro) rs397514927
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln) rs45517206
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) rs45517206
NM_000548.5(TSC2):c.1872delinsTT (p.Ser625fs) rs397515017
NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs) rs397515073
NM_000548.5(TSC2):c.187C>T (p.Gln63Ter) rs397515039
NM_000548.5(TSC2):c.187del (p.Gln63fs) rs397514903
NM_000548.5(TSC2):c.1882C>G (p.Arg628Gly) rs45437797
NM_000548.5(TSC2):c.1889_1893delinsATGCA (p.Gly630_Leu631delinsAspAla) rs397515215
NM_000548.5(TSC2):c.1893dup (p.Pro632fs) rs397515032
NM_000548.5(TSC2):c.1909_1912del (p.Val637fs) rs137854069
NM_000548.5(TSC2):c.1916G>A (p.Arg639Gln) rs753932484
NM_000548.5(TSC2):c.1922G>T (p.Ser641Ile) rs397514964
NM_000548.5(TSC2):c.1927dup (p.Tyr643fs) rs137854339
NM_000548.5(TSC2):c.1934dup (p.Cys646fs) rs397515019
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.193del (p.Cys65fs) rs397515080
NM_000548.5(TSC2):c.1942dup (p.Tyr648fs) rs137854151
NM_000548.5(TSC2):c.1944del (p.Asp647_Tyr648insTer) rs137854096
NM_000548.5(TSC2):c.1946+1G>C rs397514994
NM_000548.5(TSC2):c.1946+2T>C rs397515247
NM_000548.5(TSC2):c.1946+60G>C rs45491895
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.5(TSC2):c.1947-1G>A rs397515310
NM_000548.5(TSC2):c.1947-2A>G rs45517207
NM_000548.5(TSC2):c.1947-7T>C rs45450193
NM_000548.5(TSC2):c.1953_1954AG[3] (p.Gly654fs) rs137854144
NM_000548.5(TSC2):c.1953_1954AG[5] (p.Gly654fs) rs137854144
NM_000548.5(TSC2):c.1960G>T (p.Gly654Cys) rs397515114
NM_000548.5(TSC2):c.1960_1961del (p.Gly654fs) rs137854349
NM_000548.5(TSC2):c.1965dup (p.Glu656Ter) rs137854082
NM_000548.5(TSC2):c.1967_1969AGA[2] (p.Lys658del) rs137854104
NM_000548.5(TSC2):c.1969A>T (p.Lys657Ter) rs45488199
NM_000548.5(TSC2):c.196G>T (p.Glu66Ter) rs45517094
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.5(TSC2):c.1975_1981del (p.Thr659fs) rs137854124
NM_000548.5(TSC2):c.1981G>C (p.Gly661Arg) rs137854168
NM_000548.5(TSC2):c.1982_1983delinsTT (p.Gly661Val) rs137854103
NM_000548.5(TSC2):c.1987del (p.Leu663fs) rs137854310
NM_000548.5(TSC2):c.1987dup (p.Leu663fs) rs137854310
NM_000548.5(TSC2):c.19A>T (p.Lys7Ter) rs397514951
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu) rs397515288
NM_000548.5(TSC2):c.201C>T (p.Val67=) rs45460096
NM_000548.5(TSC2):c.2024_2042del (p.Ala675fs) rs137854309
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2031dup (p.Ala678fs) rs397515050
NM_000548.5(TSC2):c.2046del (p.Ser683fs) rs397515287
NM_000548.5(TSC2):c.2050del (p.Val684fs) rs397515141
NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs) rs137854337
NM_000548.5(TSC2):c.205A>T (p.Lys69Ter) rs45517095
NM_000548.5(TSC2):c.2061_2067del (p.Leu688fs) rs137854211
NM_000548.5(TSC2):c.2071_2072CG[3] (p.Val692fs) rs397515197
NM_000548.5(TSC2):c.2071del (p.Arg691fs) rs137854071
NM_000548.5(TSC2):c.2073C>T (p.Arg691=) rs45512398
NM_000548.5(TSC2):c.2074del (p.Val692fs) rs137854419
NM_000548.5(TSC2):c.2078T>C (p.Leu693Pro) rs45488191
NM_000548.5(TSC2):c.2078_2080TGC[1] (p.Leu694del) rs137854234
NM_000548.5(TSC2):c.2082G>T (p.Leu694=) rs45458592
NM_000548.5(TSC2):c.2082_2083delinsTT (p.Gln695Ter) rs137854362
NM_000548.5(TSC2):c.2083C>T (p.Gln695Ter) rs45517209
NM_000548.5(TSC2):c.2086T>C (p.Cys696Arg) rs45483301
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.2087_2088insAA (p.Cys696Ter) rs137854319
NM_000548.5(TSC2):c.2088C>A (p.Cys696Ter) rs137854217
NM_000548.5(TSC2):c.2089_2090dup (p.Leu697fs) rs137854189
NM_000548.5(TSC2):c.2090dup (p.Leu697fs) rs137854189
NM_000548.5(TSC2):c.2095C>T (p.Gln699Ter) rs45517210
NM_000548.5(TSC2):c.2097+12C>T rs137854029
NM_000548.5(TSC2):c.2097+28G>A rs397514882
NM_000548.5(TSC2):c.2097+35G>A rs45517211
NM_000548.5(TSC2):c.2097+43A>G rs186681035
NM_000548.5(TSC2):c.2098-19A>G rs397515091
NM_000548.5(TSC2):c.2098-1G>A rs45517212
NM_000548.5(TSC2):c.2098-2A>G rs45501596
NM_000548.5(TSC2):c.2098G>A (p.Glu700Lys) rs45496402
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg) rs137854215
NM_000548.5(TSC2):c.2103_2105dup (p.Asp702dup) rs137854265
NM_000548.5(TSC2):c.2103dup (p.Asp702Ter) rs137854320
NM_000548.5(TSC2):c.2106dup (p.Trp703fs) rs137854183
NM_000548.5(TSC2):c.2107dup (p.Trp703fs) rs397515047
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter) rs45517213
NM_000548.5(TSC2):c.2109G>A (p.Trp703Ter) rs45462192
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2114T>A (p.Val705Glu) rs397515068
NM_000548.5(TSC2):c.2127del (p.Leu710fs) rs397515178
NM_000548.5(TSC2):c.2142_2157del (p.Glu715fs) rs137854201
NM_000548.5(TSC2):c.2145_2158dup (p.Lys720fs) rs137854358
NM_000548.5(TSC2):c.2148_2149insGAGTCCC (p.Leu717fs) rs397514883
NM_000548.5(TSC2):c.2149del (p.Leu717fs) rs397514967
NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg) rs45517214
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro) rs45517215
NM_000548.5(TSC2):c.2163del (p.Leu722fs) rs137854109
NM_000548.5(TSC2):c.2172_2176del (p.Thr725fs) rs137854216
NM_000548.5(TSC2):c.2182del (p.Cys728fs) rs137854032
NM_000548.5(TSC2):c.2183dup (p.Cys728fs) rs397515280
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter) rs45517216
NM_000548.5(TSC2):c.2197C>G (p.Leu733Val) rs397515163
NM_000548.5(TSC2):c.2198T>C (p.Leu733Pro) rs45517217
NM_000548.5(TSC2):c.2199_2203del (p.Ala736fs) rs397515090
NM_000548.5(TSC2):c.21del (p.Asp8fs) rs137854019
NM_000548.5(TSC2):c.2201_2205GCTCT[3] (p.Cys738fs) rs137854247
NM_000548.5(TSC2):c.2210T>C (p.Leu737Pro) rs45464093
NM_000548.5(TSC2):c.2220+1G>A rs137854361
NM_000548.5(TSC2):c.2220+1G>T rs137854361
NM_000548.5(TSC2):c.2220+25G>C rs149860839
NM_000548.5(TSC2):c.2220+2T>G rs397515121
NM_000548.5(TSC2):c.2220+32del rs137854354
NM_000548.5(TSC2):c.2220+3A>C rs397515133
NM_000548.5(TSC2):c.2221-1G>C rs45517218
NM_000548.5(TSC2):c.2221-28A>G rs7196184
NM_000548.5(TSC2):c.2221-2A>C rs45502196
NM_000548.5(TSC2):c.2221-2A>G rs45502196
NM_000548.5(TSC2):c.2221-7T>G rs45517219
NM_000548.5(TSC2):c.2225C>G (p.Ser742Ter) rs45517220
NM_000548.5(TSC2):c.2231del (p.Pro744fs) rs397515218
NM_000548.5(TSC2):c.2233_2234del (p.Lys745fs) rs137854006
NM_000548.5(TSC2):c.2235_2236del (p.Lys745fs) rs137854110
NM_000548.5(TSC2):c.2239C>T (p.Leu747=) rs45517221
NM_000548.5(TSC2):c.2240_2241del (p.Leu747fs) rs137854126
NM_000548.5(TSC2):c.224A>G (p.Glu75Gly) rs397515049
NM_000548.5(TSC2):c.225+25AG[3] rs137854167
NM_000548.5(TSC2):c.225+2T>A rs397515105
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.2257dup (p.Ala753fs) rs397514946
NM_000548.5(TSC2):c.226-1G>A rs397515134
NM_000548.5(TSC2):c.226-2A>G rs45517096
NM_000548.5(TSC2):c.226-32A>G rs137854185
NM_000548.5(TSC2):c.226-36_226-35del rs397515043
NM_000548.5(TSC2):c.2261del (p.Pro754fs) rs137854021
NM_000548.5(TSC2):c.2273C>T (p.Ser758Phe) rs45517223
NM_000548.5(TSC2):c.2277A>G (p.Arg759=) rs45517224
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.5(TSC2):c.2294_2295dup (p.Val766fs) rs137854284
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2306T>A (p.Val769Glu) rs45499191
NM_000548.5(TSC2):c.2315C>A (p.Ala772Glu) rs397514984
NM_000548.5(TSC2):c.2318T>G (p.Leu773Ter) rs397515276
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter) rs45517225
NM_000548.5(TSC2):c.2338del (p.Leu780fs) rs137854086
NM_000548.5(TSC2):c.2347del (p.Thr783fs) rs137854385
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter) rs45517226
NM_000548.5(TSC2):c.2355+1G>A rs45517227
NM_000548.5(TSC2):c.2355+2T>C rs45517228
NM_000548.5(TSC2):c.2355+2_2355+5del rs137854250
NM_000548.5(TSC2):c.2356-1G>A rs45481704
NM_000548.5(TSC2):c.2356-2A>C rs45517229
NM_000548.5(TSC2):c.2356-52_2357del rs1555507428
NM_000548.5(TSC2):c.2356-63A>C rs45517230
NM_000548.5(TSC2):c.2359G>T (p.Glu787Ter) rs45517231
NM_000548.5(TSC2):c.2363T>G (p.Met788Arg) rs45485599
NM_000548.5(TSC2):c.2363_2377delinsC (p.Met788fs) rs137854061
NM_000548.5(TSC2):c.2369_2371del (p.Tyr790del) rs397515224
NM_000548.5(TSC2):c.2370C>A (p.Tyr790Ter) rs45517232
NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter) rs45517232
NM_000548.5(TSC2):c.2375T>C (p.Leu792Pro) rs137854241
NM_000548.5(TSC2):c.2375T>G (p.Leu792Arg) rs137854241
NM_000548.5(TSC2):c.2380C>T (p.Gln794Ter) rs45517233
NM_000548.5(TSC2):c.2380dup (p.Gln794fs) rs397514995
NM_000548.5(TSC2):c.2381dup (p.Leu796fs) rs397515282
NM_000548.5(TSC2):c.2392del (p.His798fs) rs137854147
NM_000548.5(TSC2):c.2399del (p.Cys800fs) rs137854377
NM_000548.5(TSC2):c.2399dup (p.Cys800fs) rs137854170
NM_000548.5(TSC2):c.239_249dup (p.Ala84fs) rs397515158
NM_000548.5(TSC2):c.2404dup (p.Ser802fs) rs137854182
NM_000548.5(TSC2):c.2407C>T (p.Gln803Ter) rs45517234
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2415C>T (p.Val805=) rs45517235
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser) rs45489791
NM_000548.5(TSC2):c.2424_2426delinsT (p.Leu808fs) rs397514911
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638
NM_000548.5(TSC2):c.2430dup (p.Cys811fs) rs137853997
NM_000548.5(TSC2):c.2440G>A (p.Glu814Lys) rs45485395
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) rs45517236
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542
NM_000548.5(TSC2):c.2453_2455TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.245G>A (p.Trp82Ter) rs397514933
NM_000548.5(TSC2):c.2461A>T (p.Lys821Ter) rs45517237
NM_000548.5(TSC2):c.2468dup (p.Pro824fs) rs137853992
NM_000548.5(TSC2):c.2470_2473del (p.Pro824fs) rs137854206
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro) rs45517239
NM_000548.5(TSC2):c.2489T>G (p.Leu830Arg) rs137854047
NM_000548.5(TSC2):c.2491_2492insAT (p.Thr831fs) rs137854379
NM_000548.5(TSC2):c.2498_2502del (p.Ile833fs) rs137854286
NM_000548.5(TSC2):c.2498del (p.Ile833fs) rs397514944
NM_000548.5(TSC2):c.2508A>G (p.Thr836=) rs137854242
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.5(TSC2):c.2525del (p.Pro842fs) rs137854375
NM_000548.5(TSC2):c.2530del (p.Leu844fs) rs137854372
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro) rs397515303
NM_000548.5(TSC2):c.2531T>G (p.Leu844Arg) rs397515303
NM_000548.5(TSC2):c.2537T>A (p.Phe846Tyr) rs45509000
NM_000548.5(TSC2):c.2539del (p.Leu847fs) rs137854140
NM_000548.5(TSC2):c.2539dup (p.Leu847fs) rs137854140
NM_000548.5(TSC2):c.2540T>C (p.Leu847Pro) rs45517240
NM_000548.5(TSC2):c.2545+10C>T rs45517241
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.2545+2T>C rs397515262
NM_000548.5(TSC2):c.2545+31C>T rs45517243
NM_000548.5(TSC2):c.2545+45T>A rs45517244
NM_000548.5(TSC2):c.2545+6T>G rs45517245
NM_000548.5(TSC2):c.2545+95dup rs397515216
NM_000548.5(TSC2):c.2546-11C>G rs397515157
NM_000548.5(TSC2):c.2546-12C>T rs13331451
NM_000548.5(TSC2):c.2546-1G>A rs45468292
NM_000548.5(TSC2):c.2546-1G>C rs45468292
NM_000548.5(TSC2):c.2546-2A>G rs45517246
NM_000548.5(TSC2):c.2546-2A>T rs45517246
NM_000548.5(TSC2):c.2546-31G>A rs145738496
NM_000548.5(TSC2):c.2546-40_2546-27del rs397515055
NM_000548.5(TSC2):c.2546-5C>T rs45517247
NM_000548.5(TSC2):c.2549T>C (p.Leu850Pro) rs45517248
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.2583del (p.Ala862fs) rs137854264
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) rs45517249
NM_000548.5(TSC2):c.258G>A (p.Ala86=) rs397514912
NM_000548.5(TSC2):c.258_283del (p.Asp87fs) rs137854271
NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter) rs45517250
NM_000548.5(TSC2):c.2608_2613dup (p.Ala870_Ile871dup) rs137854092
NM_000548.5(TSC2):c.2619G>T (p.Leu873=) rs137854054
NM_000548.5(TSC2):c.2628dup (p.Asn877fs) rs137854097
NM_000548.5(TSC2):c.262C>T (p.Leu88=) rs45485999
NM_000548.5(TSC2):c.2631C>T (p.Asn877=) rs45517251
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2635_2636insA (p.Ser879fs) rs397514943
NM_000548.5(TSC2):c.2638_2639+2del rs137854081
NM_000548.5(TSC2):c.2639+10C>T rs137854378
NM_000548.5(TSC2):c.2639+15C>T rs397515299
NM_000548.5(TSC2):c.2639+1G>C rs45517252
NM_000548.5(TSC2):c.2639+1dup rs137854394
NM_000548.5(TSC2):c.2639+42C>T rs201973730
NM_000548.5(TSC2):c.2639+44C>G rs1800715
NM_000548.5(TSC2):c.2639+5G>A rs397515171
NM_000548.5(TSC2):c.2640-1G>A rs397515203
NM_000548.5(TSC2):c.2640-26G>T rs45483797
NM_000548.5(TSC2):c.2640-2A>T rs137854380
NM_000548.5(TSC2):c.2641T>C (p.Phe881Leu) rs45463498
NM_000548.5(TSC2):c.2643del (p.Phe881fs) rs137854030
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter) rs45476100
NM_000548.5(TSC2):c.2652C>T (p.Tyr884=) rs45489200
NM_000548.5(TSC2):c.2656_2657GT[2] (p.Cys887fs) rs137854232
NM_000548.5(TSC2):c.2661T>A (p.Cys887Ter) rs45475594
NM_000548.5(TSC2):c.2661_2707del (p.Ala889fs) rs397515098
NM_000548.5(TSC2):c.2665G>C (p.Ala889Pro) rs397515054
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.2669_2677del (p.His890_Ile893delinsLeu) rs137854068
NM_000548.5(TSC2):c.2670del (p.His891fs) rs397514900
NM_000548.5(TSC2):c.2677del (p.Val892_Ile893insTer) rs397515000
NM_000548.5(TSC2):c.2677dup (p.Ile893fs) rs137854276
NM_000548.5(TSC2):c.2682C>G (p.Ala894=) rs45517253
NM_000548.5(TSC2):c.2683A>G (p.Met895Val) rs45470695
NM_000548.5(TSC2):c.2687G>A (p.Trp896Ter) rs45517254
NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter) rs397514913
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.2690T>C (p.Phe897Ser) rs45517255
NM_000548.5(TSC2):c.2697G>T (p.Arg899Ser) rs45517256
NM_000548.5(TSC2):c.269_272del (p.Gln90fs) rs397515094
NM_000548.5(TSC2):c.26C>G (p.Ser9Ter) rs397515228
NM_000548.5(TSC2):c.2700C>A (p.Cys900Ter) rs45517257
NM_000548.5(TSC2):c.2709dup (p.Phe904fs) rs137854291
NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly) rs45517258
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.2713del (p.Arg905fs) rs397515007
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.2716A>T (p.Lys906Ter) rs397515243
NM_000548.5(TSC2):c.2717dup (p.Asp907fs) rs137854073
NM_000548.5(TSC2):c.2721delinsAG (p.Asp907fs) rs397515213
NM_000548.5(TSC2):c.2729del (p.Pro910fs) rs137854067
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.5(TSC2):c.2733del (p.Phe911fs) rs137854328
NM_000548.5(TSC2):c.2737_2738del (p.Ile912_Thr913insTer) rs397515113
NM_000548.5(TSC2):c.2742+13C>T rs45517260
NM_000548.5(TSC2):c.2742+15G>A rs45517261
NM_000548.5(TSC2):c.2742+1G>A rs45517262
NM_000548.5(TSC2):c.2742+1G>T rs45517262
NM_000548.5(TSC2):c.2742+5G>A rs397515076
NM_000548.5(TSC2):c.2742G>A (p.Lys914=) rs137854877
NM_000548.5(TSC2):c.2742G>C (p.Lys914Asn) rs137854877
NM_000548.5(TSC2):c.2743-11C>T rs137854426
NM_000548.5(TSC2):c.2743-1G>A rs45517263
NM_000548.5(TSC2):c.2743-1G>C rs45517263
NM_000548.5(TSC2):c.2743-2A>C rs45445303
NM_000548.5(TSC2):c.2743-2A>G rs45445303
NM_000548.5(TSC2):c.2743-3C>A rs45517264
NM_000548.5(TSC2):c.2743-40A>G rs45517265
NM_000548.5(TSC2):c.2743-4_2743dup rs137854093
NM_000548.5(TSC2):c.2743-66A>G rs45517266
NM_000548.5(TSC2):c.2743-9C>G rs397515319
NM_000548.5(TSC2):c.2746C>T (p.Leu916=) rs137854274
NM_000548.5(TSC2):c.2747T>G (p.Leu916Arg) rs137854405
NM_000548.5(TSC2):c.274del (p.Glu92fs) rs137854422
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) rs397515046
NM_000548.5(TSC2):c.2753C>G (p.Ser918Cys) rs397515165
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.2765del (p.Leu922fs) rs137854112
NM_000548.5(TSC2):c.2765dup (p.Leu922fs) rs137854112
NM_000548.5(TSC2):c.2767_2769delinsCC (p.Ser923fs) rs397515179
NM_000548.5(TSC2):c.2768dup (p.Phe924_Asp925insTer) rs137854402
NM_000548.5(TSC2):c.2774_2777delinsTC (p.Asp925fs) rs137854202
NM_000548.5(TSC2):c.2784C>G (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.2784del (p.Glu929fs) rs34245038
NM_000548.5(TSC2):c.2784dup (p.Glu929fs) rs34245038
NM_000548.5(TSC2):c.2785G>T (p.Glu929Ter) rs45517268
NM_000548.5(TSC2):c.2785del (p.Glu929fs) rs137854098
NM_000548.5(TSC2):c.2795G>A (p.Ser932Asn) rs397515138
NM_000548.5(TSC2):c.2798T>G (p.Phe933Cys) rs45517269
NM_000548.5(TSC2):c.279dup (p.Pro94fs) rs137854409
NM_000548.5(TSC2):c.280C>A (p.Pro94Thr) rs1051616
NM_000548.5(TSC2):c.2814_2815del (p.Leu940fs) rs137853975
NM_000548.5(TSC2):c.281del (p.Pro94fs) rs137854179
NM_000548.5(TSC2):c.2824G>T (p.Glu942Ter) rs45517270
NM_000548.5(TSC2):c.2837+11dup rs137854204
NM_000548.5(TSC2):c.2837+16G>A rs397515095
NM_000548.5(TSC2):c.2837+1G>T rs45517271
NM_000548.5(TSC2):c.2837+80C>T rs137854131
NM_000548.5(TSC2):c.2838-4A>C rs45517272
NM_000548.5(TSC2):c.2838-4A>G rs45517272
NM_000548.5(TSC2):c.2853A>T (p.Arg951Ser) rs45517273
NM_000548.5(TSC2):c.2859C>T (p.Pro953=) rs397514968
NM_000548.5(TSC2):c.2862A>G (p.Lys954=) rs45517274
NM_000548.5(TSC2):c.2873A>G (p.Asn958Ser) rs397515104
NM_000548.5(TSC2):c.2887G>A (p.Val963Met) rs45517275
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro) rs397515306
NM_000548.5(TSC2):c.2966+92_2966+94dup rs397515128
NM_000548.5(TSC2):c.2968_2971dup (p.Ile991fs) rs397515185
NM_000548.5(TSC2):c.2974C>T (p.Gln992Ter) rs45438592
NM_000548.5(TSC2):c.2975_2978del (p.Gln992fs) rs137854231
NM_000548.5(TSC2):c.2977_3025del (p.Thr993fs) rs137854287
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met) rs137854410
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277
NM_000548.5(TSC2):c.297_298CG[3] (p.Val101fs) rs137854244
NM_000548.5(TSC2):c.297del (p.His99fs) rs397515239
NM_000548.5(TSC2):c.2983_2990dup (p.Ala998fs) rs137854324
NM_000548.5(TSC2):c.2988del (p.Ser997fs) rs397515269
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.3017_3062del (p.Asn1006fs) rs397515107
NM_000548.5(TSC2):c.3018C>T (p.Asn1006=) rs45471697
NM_000548.5(TSC2):c.3022G>A (p.Val1008Met) rs397514985
NM_000548.5(TSC2):c.3025G>T (p.Ala1009Ser) rs45517278
NM_000548.5(TSC2):c.3028C>T (p.Gln1010Ter) rs45514100
NM_000548.5(TSC2):c.3036C>T (p.Asp1012=) rs144997264
NM_000548.5(TSC2):c.3037G>A (p.Asp1013Asn) rs45517279
NM_000548.5(TSC2):c.3037del (p.Asp1013fs) rs137854301
NM_000548.5(TSC2):c.3058dup (p.Leu1020fs) rs397515211
NM_000548.5(TSC2):c.3076dup (p.Cys1026fs) rs137854334
NM_000548.5(TSC2):c.307_315dup (p.Ala103_Leu105dup) rs137854004
NM_000548.5(TSC2):c.3080T>C (p.Leu1027Pro) rs45438192
NM_000548.5(TSC2):c.3082G>A (p.Asp1028Asn) rs45517280
NM_000548.5(TSC2):c.3083A>G (p.Asp1028Gly) rs397515255
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3094_3095insTTCCATG (p.Arg1032fs) rs397515231
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3097T>C (p.Tyr1033His) rs137854404
NM_000548.5(TSC2):c.3098dup (p.Tyr1033Ter) rs137854015
NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter) rs45464800
NM_000548.5(TSC2):c.3099C>G (p.Tyr1033Ter) rs45464800
NM_000548.5(TSC2):c.3099del (p.Arg1032_Tyr1033insTer) rs137854157
NM_000548.5(TSC2):c.309T>G (p.Ala103=) rs45517101
NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro) rs45517281
NM_000548.5(TSC2):c.3115_3116insTCCA (p.Thr1039fs) rs137853989
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3128del (p.Lys1043fs) rs137854070
NM_000548.5(TSC2):c.3131+11_3131+28del rs137854115
NM_000548.5(TSC2):c.3131+1G>A rs45506401
NM_000548.5(TSC2):c.3131+2T>C rs397515036
NM_000548.5(TSC2):c.3131+34C>T rs45487103
NM_000548.5(TSC2):c.3131G>A (p.Arg1044Lys) rs397515302
NM_000548.5(TSC2):c.3131G>T (p.Arg1044Met) rs397515302
NM_000548.5(TSC2):c.3132-10T>C rs397514894
NM_000548.5(TSC2):c.3132-16G>A rs199572528
NM_000548.5(TSC2):c.3132-18A>T rs137854120
NM_000548.5(TSC2):c.3132-1G>A rs45443096
NM_000548.5(TSC2):c.3132-1G>C rs45443096
NM_000548.5(TSC2):c.3132-2A>C rs45517282
NM_000548.5(TSC2):c.3132-30A>G rs45517283
NM_000548.5(TSC2):c.3138T>C (p.Pro1046=) rs137854158
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284
NM_000548.5(TSC2):c.3178T>C (p.Trp1060Arg) rs45517285
NM_000548.5(TSC2):c.3182T>C (p.Leu1061Pro) rs397514919
NM_000548.5(TSC2):c.3197T>C (p.Leu1066Pro) rs397515207
NM_000548.5(TSC2):c.3198dup (p.Val1067fs) rs137854177
NM_000548.5(TSC2):c.3203C>T (p.Thr1068Ile) rs397515284
NM_000548.5(TSC2):c.3204_3205TG[1] (p.Val1069fs) rs137854076
NM_000548.5(TSC2):c.3212C>G (p.Thr1071Arg) rs45498892
NM_000548.5(TSC2):c.3214del (p.Ser1072fs) rs137854106
NM_000548.5(TSC2):c.3220_3221delinsC (p.Gly1074fs) rs137854384
NM_000548.5(TSC2):c.3221del (p.Gly1074fs) rs397514962
NM_000548.5(TSC2):c.3223_3229dup (p.Thr1077fs) rs397515115
NM_000548.5(TSC2):c.3224C>T (p.Thr1075Ile) rs397515024
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=) rs374145104
NM_000548.5(TSC2):c.3230C>T (p.Thr1077Ile) rs137854279
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.3239del (p.Leu1080fs) rs397515061
NM_000548.5(TSC2):c.3252C>G (p.Asp1084Glu) rs45517286
NM_000548.5(TSC2):c.3254C>A (p.Ser1085Ter) rs45517287
NM_000548.5(TSC2):c.3259_3261delinsAA (p.Glu1087fs) rs397515044
NM_000548.5(TSC2):c.3259del (p.Glu1087fs) rs137854302
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs) rs137854302
NM_000548.5(TSC2):c.3261G>C (p.Glu1087Asp) rs45438093
NM_000548.5(TSC2):c.3265C>T (p.Gln1089Ter) rs45517288
NM_000548.5(TSC2):c.3268_3271dup (p.Gly1091fs) rs137854213
NM_000548.5(TSC2):c.3275del (p.Pro1092fs) rs397515096
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu) rs397514887
NM_000548.5(TSC2):c.3284+1G>A rs45517289
NM_000548.5(TSC2):c.3284+1G>C rs45517289
NM_000548.5(TSC2):c.3284+1del rs137853990
NM_000548.5(TSC2):c.3284+45G>A rs140027616
NM_000548.5(TSC2):c.3284G>A (p.Ser1095Asn) rs1555510754
NM_000548.5(TSC2):c.3285-16G>A rs397514886
NM_000548.5(TSC2):c.3285-19C>T rs45517291
NM_000548.5(TSC2):c.3285-31G>A rs397515248
NM_000548.5(TSC2):c.3285-63A>G rs397515026
NM_000548.5(TSC2):c.3294del (p.Val1100fs) rs397515048
NM_000548.5(TSC2):c.3298del (p.Val1100fs) rs137854162
NM_000548.5(TSC2):c.3307_3308insC (p.Arg1103fs) rs397515022
NM_000548.5(TSC2):c.330delinsAT (p.Gly111fs) rs137854108
NM_000548.5(TSC2):c.3310C>T (p.Gln1104Ter) rs397514978
NM_000548.5(TSC2):c.3310_3311del (p.Gln1104fs) rs137854018
NM_000548.5(TSC2):c.3312_3313del (p.Gln1104fs) rs397515183
NM_000548.5(TSC2):c.3327G>A (p.Pro1109=) rs45478393
NM_000548.5(TSC2):c.3327_3337del (p.Ala1110fs) rs397515013
NM_000548.5(TSC2):c.3337dup (p.Glu1113fs) rs397515144
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter) rs137854253
NM_000548.5(TSC2):c.3348_3349insAGCC (p.Gly1117fs) rs137854042
NM_000548.5(TSC2):c.334C>T (p.Gln112Ter) rs397515308
NM_000548.5(TSC2):c.3350_3360del (p.Gly1117fs) rs137854003
NM_000548.5(TSC2):c.3352C>T (p.Gln1118Ter) rs45496291
NM_000548.5(TSC2):c.3355C>T (p.Gln1119Ter) rs45517292
NM_000548.5(TSC2):c.3359T>A (p.Val1120Glu) rs397514895
NM_000548.5(TSC2):c.336+1G>A rs45517102
NM_000548.5(TSC2):c.336+1_336+2dup rs397515275
NM_000548.5(TSC2):c.336+2T>G rs45505995
NM_000548.5(TSC2):c.336+30G>A rs45503094
NM_000548.5(TSC2):c.336+32C>T rs45517103
NM_000548.5(TSC2):c.336+33G>T rs45517104
NM_000548.5(TSC2):c.336+61C>T rs397514989
NM_000548.5(TSC2):c.3364C>T (p.Arg1122Cys) rs397514938
NM_000548.5(TSC2):c.337-1G>A rs45517105
NM_000548.5(TSC2):c.337-1G>T rs45517105
NM_000548.5(TSC2):c.337-2A>G rs397515316
NM_000548.5(TSC2):c.337-2A>T rs397515316
NM_000548.5(TSC2):c.3373del (p.Arg1125fs) rs137854013
NM_000548.5(TSC2):c.3373dup (p.Arg1125fs) rs137854013
NM_000548.5(TSC2):c.3376dup (p.Asp1126fs) rs397515125
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val) rs397514945
NM_000548.5(TSC2):c.3383del (p.Val1128fs) rs137853996
NM_000548.5(TSC2):c.3384_3397+2del rs137854190
NM_000548.5(TSC2):c.3390del (p.Met1131fs) rs137854161
NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter) rs137854074
NM_000548.5(TSC2):c.3397+1G>A rs137854208
NM_000548.5(TSC2):c.3397+2T>G rs45499293
NM_000548.5(TSC2):c.3397+5G>A rs45501492
NM_000548.5(TSC2):c.3397+5G>T rs45501492
NM_000548.5(TSC2):c.3398-10T>C rs137854369
NM_000548.5(TSC2):c.3398-1G>A rs45517293
NM_000548.5(TSC2):c.339del (p.Glu114fs) rs137854063
NM_000548.5(TSC2):c.340G>A (p.Glu114Lys) rs397515021
NM_000548.5(TSC2):c.340G>T (p.Glu114Ter) rs397515021
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3413_3414insC (p.Val1139fs) rs397515244
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424
NM_000548.5(TSC2):c.3425dup (p.Asp1143fs) rs137854313
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.5(TSC2):c.3430G>T (p.Val1144Leu) rs45517294
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu) rs397515162
NM_000548.5(TSC2):c.343del (p.Arg115fs) rs397514918
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter) rs45477491
NM_000548.5(TSC2):c.3451G>A (p.Gly1151Ser) rs137854022
NM_000548.5(TSC2):c.3452_3455dup (p.Ser1152fs) rs137854078
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.5(TSC2):c.3476G>T (p.Arg1159Leu) rs45473098
NM_000548.5(TSC2):c.3482C>T (p.Ala1161Val) rs397514901
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801
NM_000548.5(TSC2):c.3497del (p.Pro1166fs) rs397515052
NM_000548.5(TSC2):c.3498dup (p.Glu1167Ter) rs137854340
NM_000548.5(TSC2):c.34A>T (p.Lys12Ter) rs45512692
NM_000548.5(TSC2):c.3509C>A (p.Ser1170Ter) rs45517296
NM_000548.5(TSC2):c.3509C>G (p.Ser1170Ter) rs45517296
NM_000548.5(TSC2):c.3520del (p.Arg1174fs) rs137854326
NM_000548.5(TSC2):c.352dup (p.Val118fs) rs137853982
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) rs45517297
NM_000548.5(TSC2):c.3535G>T (p.Glu1179Ter) rs45483391
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421
NM_000548.5(TSC2):c.3559del (p.Val1187fs) rs137854163
NM_000548.5(TSC2):c.3565dup (p.Leu1189fs) rs137854121
NM_000548.5(TSC2):c.3574C>T (p.Gln1192Ter) rs45517298
NM_000548.5(TSC2):c.3574del (p.Gln1192fs) rs137854014
NM_000548.5(TSC2):c.3578del (p.Gly1193fs) rs137854262
NM_000548.5(TSC2):c.357del (p.Arg120fs) rs137854258
NM_000548.5(TSC2):c.3581G>A (p.Trp1194Ter) rs397515168
NM_000548.5(TSC2):c.3596T>G (p.Val1199Gly) rs397515088
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205
NM_000548.5(TSC2):c.3599G>C (p.Arg1200Pro) rs397515225
NM_000548.5(TSC2):c.3605C>A (p.Pro1202His) rs397515060
NM_000548.5(TSC2):c.3605C>G (p.Pro1202Arg) rs397515060
NM_000548.5(TSC2):c.3607A>C (p.Thr1203Pro) rs397515265
NM_000548.5(TSC2):c.3608C>A (p.Thr1203Lys) rs397515030
NM_000548.5(TSC2):c.3610+1G>A rs45517299
NM_000548.5(TSC2):c.3610+25G>C rs45517300
NM_000548.5(TSC2):c.3610+42dup rs397515119
NM_000548.5(TSC2):c.3610+6G>A rs45517301
NM_000548.5(TSC2):c.3610+9C>T rs45467194
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg) rs1555511663
NM_000548.5(TSC2):c.3611-10G>A rs372045362
NM_000548.5(TSC2):c.3611-28C>A rs45517303
NM_000548.5(TSC2):c.3611-2A>T rs397515169
NM_000548.5(TSC2):c.3611-9C>T rs45517304
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3620G>T (p.Ser1207Ile) rs397515313
NM_000548.5(TSC2):c.3620_3624del (p.Ser1207fs) rs397514952
NM_000548.5(TSC2):c.3622T>C (p.Trp1208Arg) rs45482795
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly) rs45482795
NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter) rs397514979
NM_000548.5(TSC2):c.3637del (p.Glu1213fs) rs397515010
NM_000548.5(TSC2):c.363C>T (p.Ala121=) rs45517106
NM_000548.5(TSC2):c.3643_3644insTG (p.Pro1215fs) rs137854224
NM_000548.5(TSC2):c.3653_3660del (p.Pro1218fs) rs137854389
NM_000548.5(TSC2):c.3653_3670del (p.Pro1218_Asn1224delinsHis) rs397514904
NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter) rs45517305
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=) rs137854268
NM_000548.5(TSC2):c.3663_3664del (p.Asp1222fs) rs137854393
NM_000548.5(TSC2):c.3669del (p.Asn1224fs) rs137854223
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter) rs45517306
NM_000548.5(TSC2):c.3686_3701del (p.Gln1229fs) rs137854129
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3695del (p.Ser1232fs) rs137854316
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) rs137854210
NM_000548.5(TSC2):c.3699dup (p.Ala1234fs) rs397515193
NM_000548.5(TSC2):c.3703C>T (p.Leu1235Phe) rs137854303
NM_000548.5(TSC2):c.3705del (p.Met1236fs) rs137854325
NM_000548.5(TSC2):c.3712del (p.Ala1238fs) rs397515161
NM_000548.5(TSC2):c.3718C>T (p.Arg1240Cys) rs137854353
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.3750C>A (p.Tyr1250Ter) rs45517308
NM_000548.5(TSC2):c.3750C>G (p.Tyr1250Ter) rs45517308
NM_000548.5(TSC2):c.3755C>G (p.Ser1252Ter) rs45517309
NM_000548.5(TSC2):c.3762_3783del (p.Val1255fs) rs137854194
NM_000548.5(TSC2):c.3769del (p.Ala1257fs) rs137854180
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493
NM_000548.5(TSC2):c.3782C>A (p.Ala1261Asp) rs45517310
NM_000548.5(TSC2):c.3791del (p.Pro1264fs) rs137854001
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser) rs45517311
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441
NM_000548.5(TSC2):c.3814+1G>A rs397514902
NM_000548.5(TSC2):c.3814+1G>C rs397514902
NM_000548.5(TSC2):c.3814+56C>T rs45517312
NM_000548.5(TSC2):c.3815-15G>A rs45480591
NM_000548.5(TSC2):c.3815-27G>A rs137854008
NM_000548.5(TSC2):c.3815-28C>G rs45517313
NM_000548.5(TSC2):c.3816G>A (p.Val1272=) rs45517314
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595
NM_000548.5(TSC2):c.3844A>G (p.Ser1282Gly) rs45446700
NM_000548.5(TSC2):c.385del (p.Asp129fs) rs137854059
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile) rs201135184
NM_000548.5(TSC2):c.3883+15_3883+16del rs137854278
NM_000548.5(TSC2):c.3883+37C>T rs45517315
NM_000548.5(TSC2):c.3883+5C>T rs45448994
NM_000548.5(TSC2):c.3883+76C>A rs137854188
NM_000548.5(TSC2):c.3883+78G>A rs1800705
NM_000548.5(TSC2):c.3883+8C>G rs45517316
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_000548.5(TSC2):c.3884-1G>A rs137854079
NM_000548.5(TSC2):c.3884-1G>C rs137854079
NM_000548.5(TSC2):c.3884-2A>T rs137854053
NM_000548.5(TSC2):c.3884-51C>A rs45505099
NM_000548.5(TSC2):c.3884-51C>G rs45505099
NM_000548.5(TSC2):c.3884-55A>T rs45517318
NM_000548.5(TSC2):c.3884-56C>G rs1800724
NM_000548.5(TSC2):c.3884-8C>T rs397515219
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.388del (p.Tyr130fs) rs397514975
NM_000548.5(TSC2):c.3913C>T (p.Pro1305Ser) rs45452994
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.5(TSC2):c.3924dup (p.Pro1309fs) rs137854142
NM_000548.5(TSC2):c.3935dup (p.Glu1313fs) rs397515212
NM_000548.5(TSC2):c.3937G>T (p.Glu1313Ter) rs45517321
NM_000548.5(TSC2):c.3943C>G (p.Pro1315Ala) rs397514916
NM_000548.5(TSC2):c.3943C>T (p.Pro1315Ser) rs397514916
NM_000548.5(TSC2):c.3943_3944del (p.Pro1315fs) rs137854011
NM_000548.5(TSC2):c.3952_3961del (p.Glu1318fs) rs397515260
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val) rs45517322
NM_000548.5(TSC2):c.395C>G (p.Ser132Cys) rs137854391
NM_000548.5(TSC2):c.395_396del (p.Pro131_Ser132insTer) rs397515263
NM_000548.5(TSC2):c.3961G>T (p.Glu1321Ter) rs397514910
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062
NM_000548.5(TSC2):c.3984del (p.Arg1328fs) rs137854255
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209
NM_000548.5(TSC2):c.3991del (p.Asp1331fs) rs397515058
NM_000548.5(TSC2):c.3997dup (p.Tyr1333fs) rs137854403
NM_000548.5(TSC2):c.3999del (p.Ala1332_Tyr1333insTer) rs397515232
NM_000548.5(TSC2):c.3G>A (p.Met1Ile) rs397515208
NM_000548.5(TSC2):c.4005+1G>T rs45517324
NM_000548.5(TSC2):c.4005+2T>A rs137854254
NM_000548.5(TSC2):c.4006-21C>T rs397515012
NM_000548.5(TSC2):c.4006-2A>G rs397514941
NM_000548.5(TSC2):c.4006-30_4006-29del rs397515235
NM_000548.5(TSC2):c.4006-8C>T rs45517325
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) rs45462593
NM_000548.5(TSC2):c.4024C>T (p.Gln1342Ter) rs397515003
NM_000548.5(TSC2):c.4030G>T (p.Glu1344Ter) rs397515035
NM_000548.5(TSC2):c.4037C>A (p.Ser1346Ter) rs45517326
NM_000548.5(TSC2):c.403dup (p.Asp135fs) rs137854166
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000548.5(TSC2):c.4047G>A (p.Ala1349=) rs45468491
NM_000548.5(TSC2):c.404_407dup (p.His137fs) rs137854381
NM_000548.5(TSC2):c.4061del (p.Gly1354fs) rs397515129
NM_000548.5(TSC2):c.4067del (p.Gly1356fs) rs137854330
NM_000548.5(TSC2):c.4073C>T (p.Pro1358Leu) rs397515130
NM_000548.5(TSC2):c.4078G>T (p.Glu1360Ter) rs397514997
NM_000548.5(TSC2):c.4083_4087del (p.Val1362fs) rs137853978
NM_000548.5(TSC2):c.4085T>A (p.Val1362Asp) rs397514947
NM_000548.5(TSC2):c.4088_4095dup (p.Glu1366fs) rs397515126
NM_000548.5(TSC2):c.4095G>A (p.Ser1365=) rs139630605
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter) rs45517327
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.5(TSC2):c.410A>G (p.His137Arg) rs45517107
NM_000548.5(TSC2):c.4113_4114TG[1] (p.Val1372fs) rs137854368
NM_000548.5(TSC2):c.4121_4122TC[1] (p.Ser1375fs) rs137854289
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter) rs45517329
NM_000548.5(TSC2):c.4136C>A (p.Ser1379Ter) rs137854065
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065
NM_000548.5(TSC2):c.4138C>T (p.Gln1380Ter) rs137854045
NM_000548.5(TSC2):c.4142C>T (p.Pro1381Leu) rs397515264
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter) rs397514976
NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs) rs397515009
NM_000548.5(TSC2):c.415del (p.Arg139fs) rs137854010
NM_000548.5(TSC2):c.4162_4163TC[1] (p.Pro1389fs) rs137854043
NM_000548.5(TSC2):c.4167C>T (p.Pro1389=) rs45508504
NM_000548.5(TSC2):c.4168G>T (p.Glu1390Ter) rs397515033
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) rs45517330
NM_000548.5(TSC2):c.4174del (p.Gln1392fs) rs137854051
NM_000548.5(TSC2):c.4176_4177del (p.Gln1392fs) rs137854270
NM_000548.5(TSC2):c.4178_4179CT[1] (p.Leu1394fs) rs137854363
NM_000548.5(TSC2):c.4183_4195del (p.Gln1395fs) rs397514935
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.4207del (p.Asp1403fs) rs137854273
NM_000548.5(TSC2):c.4207dup (p.Asp1403fs) rs137854273
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331
NM_000548.5(TSC2):c.4219G>C (p.Val1407Leu) rs45517332
NM_000548.5(TSC2):c.4223del (p.Gly1408fs) rs137854427
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.5(TSC2):c.4241_4275del (p.Val1414fs) rs137854296
NM_000548.5(TSC2):c.4244dup (p.Ala1416fs) rs137854243
NM_000548.5(TSC2):c.4249del (p.Arg1417fs) rs137854055
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter) rs45437193
NM_000548.5(TSC2):c.4255del (p.Gln1419fs) rs137854137
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs) rs137854132
NM_000548.5(TSC2):c.4260_4261del (p.Gly1421fs) rs397515271
NM_000548.5(TSC2):c.4266_4272del (p.Leu1423fs) rs397515069
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4273_4337del (p.Gly1425fs) rs1555514235
NM_000548.5(TSC2):c.4276G>T (p.Glu1426Ter) rs45449094
NM_000548.5(TSC2):c.4279del (p.Ser1427fs) rs137854113
NM_000548.5(TSC2):c.4280G>C (p.Ser1427Thr) rs397515250
NM_000548.5(TSC2):c.4283del (p.Ala1428fs) rs397515233
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.4289G>A (p.Trp1430Ter) rs45507198
NM_000548.5(TSC2):c.4290G>A (p.Trp1430Ter) rs45517334
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.5(TSC2):c.4298C>A (p.Ser1433Ter) rs45517335
NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu) rs45517335
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu) rs137854406
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=) rs137854000
NM_000548.5(TSC2):c.4308C>T (p.Asp1436=) rs45517336
NM_000548.5(TSC2):c.4309_4312del (p.Ser1437fs) rs137854415
NM_000548.5(TSC2):c.4313G>A (p.Arg1438Gln) rs45448791
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4316del (p.Gly1439fs) rs137853988
NM_000548.5(TSC2):c.4316dup (p.Gln1440fs) rs137853988
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) rs45517337
NM_000548.5(TSC2):c.4323dup (p.Glu1442fs) rs137854327
NM_000548.5(TSC2):c.4324G>A (p.Glu1442Lys) rs45469392
NM_000548.5(TSC2):c.4324del (p.Glu1442fs) rs397515188
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338
NM_000548.5(TSC2):c.4351del (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.4352dup (p.Ser1452fs) rs397515175
NM_000548.5(TSC2):c.4355C>A (p.Ser1452Ter) rs45517339
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu) rs45517339
NM_000548.5(TSC2):c.4360A>G (p.Ser1454Gly) rs137854366
NM_000548.5(TSC2):c.4371dup (p.Pro1458fs) rs137854046
NM_000548.5(TSC2):c.4374_4375insT (p.Arg1459fs) rs137854038
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) rs45517340
NM_000548.5(TSC2):c.4375del (p.Arg1459fs) rs397514959
NM_000548.5(TSC2):c.437T>G (p.Leu146Arg) rs397514996
NM_000548.5(TSC2):c.4383C>G (p.Tyr1461Ter) rs397514977
NM_000548.5(TSC2):c.438_439CA[1] (p.Thr147fs) rs137854292
NM_000548.5(TSC2):c.4397C>A (p.Ser1466Ter) rs45517341
NM_000548.5(TSC2):c.4399dup (p.Ala1467fs) rs397515065
NM_000548.5(TSC2):c.4401_4402insT (p.Pro1468fs) rs397515004
NM_000548.5(TSC2):c.4406C>A (p.Ser1469Ter) rs45517342
NM_000548.5(TSC2):c.4409dup (p.Arg1471fs) rs397515041
NM_000548.5(TSC2):c.4417A>C (p.Lys1473Gln) rs397515136
NM_000548.5(TSC2):c.4418_4419AG[2] (p.Arg1474fs) rs137854307
NM_000548.5(TSC2):c.4424_4427dup (p.Glu1476fs) rs137854035
NM_000548.5(TSC2):c.4424_4428del (p.Val1475fs) rs137854293
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His) rs45517343
NM_000548.5(TSC2):c.4436C>T (p.Ala1479Val) rs397515242
NM_000548.5(TSC2):c.4438_4439insA (p.Leu1480fs) rs397514963
NM_000548.5(TSC2):c.4439T>A (p.Leu1480Ter) rs45446594
NM_000548.5(TSC2):c.4442dup (p.Ser1482fs) rs137854312
NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr) rs370114027
NM_000548.5(TSC2):c.4450_4451del (p.Ala1484fs) rs137854387
NM_000548.5(TSC2):c.4472_4474delinsTT (p.Lys1491fs) rs137854350
NM_000548.5(TSC2):c.4473dup (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4489C>A (p.Pro1497Thr) rs45517344
NM_000548.5(TSC2):c.4489C>T (p.Pro1497Ser) rs45517344
NM_000548.5(TSC2):c.4490C>G (p.Pro1497Arg) rs45497997
NM_000548.5(TSC2):c.4493+16C>G rs45491597
NM_000548.5(TSC2):c.4493+17C>T rs45517345
NM_000548.5(TSC2):c.4493+18G>A rs45454201
NM_000548.5(TSC2):c.4493+1del rs397514971
NM_000548.5(TSC2):c.4493+25G>T rs397514890
NM_000548.5(TSC2):c.4493+87del rs397514932
NM_000548.5(TSC2):c.4493G>A (p.Ser1498Asn) rs137854879
NM_000548.5(TSC2):c.4493G>C (p.Ser1498Thr) rs137854879
NM_000548.5(TSC2):c.4493_4494insC (p.Val1500fs) rs397515278
NM_000548.5(TSC2):c.4494-1G>A rs45517346
NM_000548.5(TSC2):c.4494-1G>C rs45517346
NM_000548.5(TSC2):c.4494-2A>C rs397514990
NM_000548.5(TSC2):c.4494-3_4494-2del rs397514950
NM_000548.5(TSC2):c.4496dup (p.Val1500fs) rs397515194
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) rs397515167
NM_000548.5(TSC2):c.4499T>G (p.Val1500Gly) rs45517347
NM_000548.5(TSC2):c.4504del (p.Leu1502fs) rs137854160
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) rs45517348
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4509G>T (p.Gln1503His) rs45517349
NM_000548.5(TSC2):c.4511T>A (p.Leu1504His) rs45501793
NM_000548.5(TSC2):c.4515C>A (p.Tyr1505Ter) rs45471791
NM_000548.5(TSC2):c.4515C>G (p.Tyr1505Ter) rs45471791
NM_000548.5(TSC2):c.4516del (p.His1506fs) rs137854017
NM_000548.5(TSC2):c.451A>T (p.Arg151Ter) rs137854199
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4537del (p.Glu1513fs) rs137854028
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.4568del (p.Glu1523fs) rs137854411
NM_000548.5(TSC2):c.4569+12C>T rs45517350
NM_000548.5(TSC2):c.4569+44C>T rs142227748
NM_000548.5(TSC2):c.4569+46C>T rs45482793
NM_000548.5(TSC2):c.4569+47G>A rs45517351
NM_000548.5(TSC2):c.4569+50T>A rs45482792
NM_000548.5(TSC2):c.4569+7G>C rs45497598
NM_000548.5(TSC2):c.4569+80G>A rs397515072
NM_000548.5(TSC2):c.4570-12T>A rs137854256
NM_000548.5(TSC2):c.4570-21_4570-11dup rs137854040
NM_000548.5(TSC2):c.4570-66G>A rs45496499
NM_000548.5(TSC2):c.4570-80A>G rs397515074
NM_000548.5(TSC2):c.4570_4598dup (p.Leu1534fs) rs137854150
NM_000548.5(TSC2):c.4572dup (p.Gln1525fs) rs137854425
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter) rs45517352
NM_000548.5(TSC2):c.4576_4582del (p.Phe1527fs) rs137854407
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu) rs45514391
NM_000548.5(TSC2):c.4581dup (p.Glu1528Ter) rs137854329
NM_000548.5(TSC2):c.4591del (p.Val1531fs) rs137854282
NM_000548.5(TSC2):c.45_51del (p.Lys16fs) rs397514958
NM_000548.5(TSC2):c.45del (p.Phe15fs) rs397515020
NM_000548.5(TSC2):c.4601T>A (p.Leu1534His) rs137854374
NM_000548.5(TSC2):c.4603G>T (p.Asp1535Tyr) rs45517353
NM_000548.5(TSC2):c.4603_4605del (p.Asp1535del) rs137854401
NM_000548.5(TSC2):c.4604A>C (p.Asp1535Ala) rs397515160
NM_000548.5(TSC2):c.4604A>T (p.Asp1535Val) rs397515160
NM_000548.5(TSC2):c.4606C>T (p.Gln1536Ter) rs45495796
NM_000548.5(TSC2):c.4620C>A (p.Tyr1540Ter) rs45455897
NM_000548.5(TSC2):c.4620C>G (p.Tyr1540Ter) rs45455897
NM_000548.5(TSC2):c.4621del (p.Asp1541fs) rs397515005
NM_000548.5(TSC2):c.4630_4638delinsCGTCGTGG (p.Lys1544fs) rs137854308
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354
NM_000548.5(TSC2):c.4640T>G (p.Val1547Gly) rs397514988
NM_000548.5(TSC2):c.4642del (p.Leu1548fs) rs137854083
NM_000548.5(TSC2):c.4643T>C (p.Leu1548Pro) rs397515070
NM_000548.5(TSC2):c.4645T>A (p.Tyr1549Asn) rs45488595
NM_000548.5(TSC2):c.4646A>G (p.Tyr1549Cys) rs45517355
NM_000548.5(TSC2):c.4646del (p.Tyr1549fs) rs137854424
NM_000548.5(TSC2):c.4647T>A (p.Tyr1549Ter) rs397515028
NM_000548.5(TSC2):c.4652_4653GA[3] (p.Gly1553fs) rs137854111
NM_000548.5(TSC2):c.4654G>T (p.Glu1552Ter) rs397514942
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del) rs137854146
NM_000548.5(TSC2):c.465C>G (p.Tyr155Ter) rs45444196
NM_000548.5(TSC2):c.465C>T (p.Tyr155=) rs45444196
NM_000548.5(TSC2):c.4661A>C (p.Gln1554Pro) rs45473296
NM_000548.5(TSC2):c.4662+16C>T rs45517356
NM_000548.5(TSC2):c.4662+17G>A rs45443002
NM_000548.5(TSC2):c.4662+18G>A rs45517357
NM_000548.5(TSC2):c.4662+1G>A rs45514095
NM_000548.5(TSC2):c.4662+41G>C rs45482694
NM_000548.5(TSC2):c.4662G>A (p.Gln1554=) rs137854880
NM_000548.5(TSC2):c.4662G>C (p.Gln1554His) rs137854880
NM_000548.5(TSC2):c.4662G>T (p.Gln1554His) rs137854880
NM_000548.5(TSC2):c.4663-14C>T rs397515174
NM_000548.5(TSC2):c.4663-17C>G rs137854192
NM_000548.5(TSC2):c.4663-1G>A rs45517358
NM_000548.5(TSC2):c.4663-1G>C rs45517358
NM_000548.5(TSC2):c.4663-38_4663-18dup rs137854102
NM_000548.5(TSC2):c.4663-3C>G rs397514930
NM_000548.5(TSC2):c.4663-43G>A rs45517359
NM_000548.5(TSC2):c.4665dup (p.Asn1556fs) rs397515283
NM_000548.5(TSC2):c.4667del (p.Asn1556fs) rs137854416
NM_000548.5(TSC2):c.4672G>A (p.Glu1558Lys) rs45517360
NM_000548.5(TSC2):c.4672_4684dup (p.Leu1562fs) rs397515051
NM_000548.5(TSC2):c.4677C>G (p.Leu1559=) rs45517361
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=) rs145033857
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4689C>T (p.Ser1563=) rs45517363
NM_000548.5(TSC2):c.4695del (p.Glu1565fs) rs137854171
NM_000548.5(TSC2):c.4697dup (p.His1566fs) rs137853974
NM_000548.5(TSC2):c.469G>T (p.Glu157Ter) rs45517108
NM_000548.5(TSC2):c.4700G>A (p.Gly1567Asp) rs45517364
NM_000548.5(TSC2):c.4700G>T (p.Gly1567Val) rs45517364
NM_000548.5(TSC2):c.4704del (p.Tyr1569fs) rs137854240
NM_000548.5(TSC2):c.4705_4706dup (p.Arg1570fs) rs397514992
NM_000548.5(TSC2):c.4707C>G (p.Tyr1569Ter) rs397515277
NM_000548.5(TSC2):c.4708A>T (p.Arg1570Trp) rs45517365
NM_000548.5(TSC2):c.4709G>C (p.Arg1570Thr) rs397514980
NM_000548.5(TSC2):c.4711T>A (p.Tyr1571Asn) rs397514905
NM_000548.5(TSC2):c.4712A>G (p.Tyr1571Cys) rs45478894
NM_000548.5(TSC2):c.4713C>G (p.Tyr1571Ter) rs45517366
NM_000548.5(TSC2):c.4726_4782del (p.Thr1576_Leu1594del) rs137854039
NM_000548.5(TSC2):c.4727C>T (p.Thr1576Met) rs45437192
NM_000548.5(TSC2):c.4727_4753del (p.Thr1576_Leu1584del) rs137854143
NM_000548.5(TSC2):c.4730del (p.Gly1577fs) rs397515173
NM_000548.5(TSC2):c.4733T>C (p.Leu1578Pro) rs45517367
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser) rs45503995
NM_000548.5(TSC2):c.4736G>T (p.Gly1579Val) rs397515222
NM_000548.5(TSC2):c.4743del (p.Ile1582fs) rs137854148
NM_000548.5(TSC2):c.4744dup (p.Ile1582fs) rs137854356
NM_000548.5(TSC2):c.4751T>G (p.Leu1584Arg) rs137854203
NM_000548.5(TSC2):c.4752del (p.Lys1585fs) rs397514937
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter) rs45479192
NM_000548.5(TSC2):c.4774del (p.Val1592fs) rs137854009
NM_000548.5(TSC2):c.4777dup (p.Tyr1593fs) rs397514889
NM_000548.5(TSC2):c.4779C>G (p.Tyr1593Ter) rs45517368
NM_000548.5(TSC2):c.4780C>A (p.Leu1594Met) rs45511204
NM_000548.5(TSC2):c.4783G>A (p.Gly1595Arg) rs45517369
NM_000548.5(TSC2):c.4787G>T (p.Gly1596Val) rs397515014
NM_000548.5(TSC2):c.478C>G (p.Leu160Val) rs45517109
NM_000548.5(TSC2):c.4790T>C (p.Leu1597Pro) rs45517370
NM_000548.5(TSC2):c.481+1G>T rs45488500
NM_000548.5(TSC2):c.481+21G>C rs397515040
NM_000548.5(TSC2):c.481+5G>A rs137854135
NM_000548.5(TSC2):c.481+5G>T rs137854135
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=) rs397515103
NM_000548.5(TSC2):c.4813C>T (p.Gln1605Ter) rs397514888
NM_000548.5(TSC2):c.482-1G>C rs137854306
NM_000548.5(TSC2):c.482-27C>T rs200473689
NM_000548.5(TSC2):c.482-2A>C rs45517110
NM_000548.5(TSC2):c.482-2A>G rs45517110
NM_000548.5(TSC2):c.482-3C>T rs1800720
NM_000548.5(TSC2):c.482-59G>A rs200833855
NM_000548.5(TSC2):c.482-5C>T rs397515071
NM_000548.5(TSC2):c.482-68C>G rs2516734
NM_000548.5(TSC2):c.482-7_482-6delinsAA rs137854412
NM_000548.5(TSC2):c.4821del (p.Tyr1608fs) rs137854139
NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del) rs137854399
NM_000548.5(TSC2):c.4825_4831del (p.Cys1609fs) rs137854134
NM_000548.5(TSC2):c.4828T>G (p.Trp1610Gly) rs397514966
NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter) rs45517371
NM_000548.5(TSC2):c.482C>T (p.Ala161Val) rs45481496
NM_000548.5(TSC2):c.482_483del (p.Ala161fs) rs137854235
NM_000548.5(TSC2):c.4830G>A (p.Trp1610Ter) rs45517372
NM_000548.5(TSC2):c.4830del (p.Trp1610fs) rs137854230
NM_000548.5(TSC2):c.4839_4841CAT[1] (p.Ile1614del) rs137854331
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) rs45455296
NM_000548.5(TSC2):c.4849+12C>T rs45517373
NM_000548.5(TSC2):c.4849+18C>T rs45517374
NM_000548.5(TSC2):c.4849+1G>A rs45517375
NM_000548.5(TSC2):c.4849+2T>A rs397515281
NM_000548.5(TSC2):c.4849+34C>T rs45493793
NM_000548.5(TSC2):c.4849+48C>T rs376861903
NM_000548.5(TSC2):c.4849+76G>A rs144647393
NM_000548.5(TSC2):c.4849+97del rs142421783
NM_000548.5(TSC2):c.4850-109T>C rs13335638
NM_000548.5(TSC2):c.4850-14C>G rs397515189
NM_000548.5(TSC2):c.4850-19C>G rs45517376
NM_000548.5(TSC2):c.4850-1G>A rs45517377
NM_000548.5(TSC2):c.4850-23C>T rs397515086
NM_000548.5(TSC2):c.4850-2A>C rs397515315
NM_000548.5(TSC2):c.4850-2A>G rs397515315
NM_000548.5(TSC2):c.4850-3C>G rs397514982
NM_000548.5(TSC2):c.4852_4860del (p.Val1618_His1620del) rs137854227
NM_000548.5(TSC2):c.4854C>T (p.Val1618=) rs45517378
NM_000548.5(TSC2):c.4854del (p.Phe1619fs) rs137854357
NM_000548.5(TSC2):c.4855_4857del (p.Phe1619del) rs397515084
NM_000548.5(TSC2):c.4856T>C (p.Phe1619Ser) rs45514993
NM_000548.5(TSC2):c.4858C>T (p.His1620Tyr) rs45446901
NM_000548.5(TSC2):c.4859A>G (p.His1620Arg) rs397515177
NM_000548.5(TSC2):c.4868C>T (p.Thr1623Ile) rs397515220
NM_000548.5(TSC2):c.486C>T (p.Asp162=) rs45473598
NM_000548.5(TSC2):c.4870_4871del (p.Leu1624fs) rs137854095
NM_000548.5(TSC2):c.4870del (p.Thr1623_Leu1624insTer) rs137854187
NM_000548.5(TSC2):c.4871T>C (p.Leu1624Pro) rs137854221
NM_000548.5(TSC2):c.4873del (p.Met1625fs) rs137854257
NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs) rs137854050
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152
NM_000548.5(TSC2):c.488_489del (p.Phe163fs) rs137854122
NM_000548.5(TSC2):c.4905C>A (p.Cys1635Ter) rs397514999
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn) rs45482398
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071
NM_000548.5(TSC2):c.4909_4910del (p.Lys1637fs) rs137854049
NM_000548.5(TSC2):c.4909_4911AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4909_4920del (p.Lys1637_His1640del) rs137854267
NM_000548.5(TSC2):c.4910_4919del (p.Lys1637fs) rs397515117
NM_000548.5(TSC2):c.4910dup (p.Lys1638fs) rs137854233
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.5(TSC2):c.4913dup (p.Arg1639fs) rs397515196
NM_000548.5(TSC2):c.4914G>C (p.Lys1638Asn) rs137854094
NM_000548.5(TSC2):c.4915_4918dup (p.His1640fs) rs397515184
NM_000548.5(TSC2):c.4916G>T (p.Arg1639Leu) rs137854153
NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr) rs45485092
NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp) rs137854343
NM_000548.5(TSC2):c.4925del (p.Gly1642fs) rs137854156
NM_000548.5(TSC2):c.4927A>C (p.Asn1643His) rs45517379
NM_000548.5(TSC2):c.4928A>G (p.Asn1643Ser) rs45517380
NM_000548.5(TSC2):c.4928A>T (p.Asn1643Ile) rs45517380
NM_000548.5(TSC2):c.4929C>G (p.Asn1643Lys) rs45517381
NM_000548.5(TSC2):c.4930G>C (p.Asp1644His) rs137853999
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs) rs137854141
NM_000548.5(TSC2):c.4935del (p.Phe1645fs) rs137854141
NM_000548.5(TSC2):c.4935dup (p.Val1646fs) rs137854141
NM_000548.5(TSC2):c.4937T>G (p.Val1646Gly) rs397514892
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr) rs45471896
NM_000548.5(TSC2):c.4948T>A (p.Tyr1650Asn) rs137854212
NM_000548.5(TSC2):c.4949A>G (p.Tyr1650Cys) rs45501091
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro) rs397515159
NM_000548.5(TSC2):c.4958C>T (p.Ser1653Phe) rs45517383
NM_000548.5(TSC2):c.4959C>A (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter) rs45517111
NM_000548.5(TSC2):c.4971del (p.Phe1657fs) rs137854181
NM_000548.5(TSC2):c.4974G>A (p.Lys1658=) rs45511393
NM_000548.5(TSC2):c.4975C>T (p.Leu1659Phe) rs45517385
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.5(TSC2):c.4989+1G>A rs45517386
NM_000548.5(TSC2):c.4989+1G>C rs45517386
NM_000548.5(TSC2):c.4989+1G>T rs45517386
NM_000548.5(TSC2):c.4989+1_4989+2insA rs1555438736
NM_000548.5(TSC2):c.4989+1del rs137854005
NM_000548.5(TSC2):c.4989+1dup rs137854005
NM_000548.5(TSC2):c.4989+2dup rs397515111
NM_000548.5(TSC2):c.4990-6G>A rs137853987
NM_000548.5(TSC2):c.4990-7C>T rs45457095
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter) rs45448101
NM_000548.5(TSC2):c.4del (p.Ala2fs) rs137854295
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile) rs45490993
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu) rs45490993
NM_000548.5(TSC2):c.5017G>T (p.Val1673Phe) rs45490993
NM_000548.5(TSC2):c.5018T>A (p.Val1673Asp) rs397515067
NM_000548.5(TSC2):c.5020A>C (p.Thr1674Pro) rs45500595
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5024del (p.Pro1675fs) rs397514915
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875
NM_000548.5(TSC2):c.5025del (p.Leu1676fs) rs137854382
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501
NM_000548.5(TSC2):c.5032dup (p.Tyr1678fs) rs137854016
NM_000548.5(TSC2):c.5034C>A (p.Tyr1678Ter) rs45467993
NM_000548.5(TSC2):c.5034C>G (p.Tyr1678Ter) rs45467993
NM_000548.5(TSC2):c.5034del (p.Asp1677_Tyr1678insTer) rs137854198
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.5(TSC2):c.5043C>G (p.Asn1681Lys) rs45476793
NM_000548.5(TSC2):c.5050T>C (p.Ser1684Pro) rs45517387
NM_000548.5(TSC2):c.5053del (p.Leu1685fs) rs137854060
NM_000548.5(TSC2):c.5056C>T (p.Gln1686Ter) rs45517388
NM_000548.5(TSC2):c.5057A>C (p.Gln1686Pro) rs397514983
NM_000548.5(TSC2):c.5065A>G (p.Lys1689Glu) rs137854315
NM_000548.5(TSC2):c.5068+16dup rs397514896
NM_000548.5(TSC2):c.5068+1G>A rs45445199
NM_000548.5(TSC2):c.5068+27_5069-47del rs137854209
NM_000548.5(TSC2):c.5068+2T>G rs397515152
NM_000548.5(TSC2):c.5068+40G>A rs185211341
NM_000548.5(TSC2):c.5068+9G>A rs45445593
NM_000548.5(TSC2):c.5068G>C (p.Asp1690His) rs137854882
NM_000548.5(TSC2):c.5068G>T (p.Asp1690Tyr) rs137854882
NM_000548.5(TSC2):c.5069-14_5069-12del rs397514923
NM_000548.5(TSC2):c.5069-18A>G rs45484794
NM_000548.5(TSC2):c.5069-1G>A rs45517389
NM_000548.5(TSC2):c.5069-1G>C rs45517389
NM_000548.5(TSC2):c.5069-1G>T rs45517389
NM_000548.5(TSC2):c.5069-21G>A rs45517390
NM_000548.5(TSC2):c.5069-22C>T rs137854338
NM_000548.5(TSC2):c.5069-2A>G rs45487291
NM_000548.5(TSC2):c.5069-47_5069-13dup rs397515006
NM_000548.5(TSC2):c.5075_5078del (p.Glu1692fs) rs137854037
NM_000548.5(TSC2):c.5078_5081del (p.Gly1693fs) rs137854280
NM_000548.5(TSC2):c.5084_5094del (p.Val1695fs) rs137853985
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5097G>C (p.Val1699=) rs397515314
NM_000548.5(TSC2):c.509_510insAT (p.Gly171fs) rs397515229
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5108T>G (p.Val1703Gly) rs45498401
NM_000548.5(TSC2):c.5108dup (p.Ser1704fs) rs397515227
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr) rs45474691
NM_000548.5(TSC2):c.5112dup (p.Asp1705Ter) rs397515205
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.5(TSC2):c.5116dup (p.Arg1706fs) rs137853981
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392
NM_000548.5(TSC2):c.5118C>T (p.Arg1706=) rs397515079
NM_000548.5(TSC2):c.5122del (p.Leu1708fs) rs137854336
NM_000548.5(TSC2):c.5123T>C (p.Leu1708Pro) rs397515274
NM_000548.5(TSC2):c.5126C>G (p.Pro1709Arg) rs45517393
NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu) rs45517393
NM_000548.5(TSC2):c.5127dup (p.Phe1710fs) rs397515164
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505
NM_000548.5(TSC2):c.5135C>A (p.Ala1712Asp) rs45517394
NM_000548.5(TSC2):c.5136_5137del (p.Arg1713fs) rs137854136
NM_000548.5(TSC2):c.5137del (p.Arg1713fs) rs137854136
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro) rs45517395
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter) rs45517396
NM_000548.5(TSC2):c.5143A>G (p.Met1715Val) rs397514974
NM_000548.5(TSC2):c.5144_5155del (p.Met1715_Ala1719delinsThr) rs137854321
NM_000548.5(TSC2):c.5146G>C (p.Ala1716Pro) rs45517397
NM_000548.5(TSC2):c.5148C>T (p.Ala1716=) rs45482604
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) rs45517398
NM_000548.5(TSC2):c.5152_5160+1del rs137854164
NM_000548.5(TSC2):c.5154_5157dup (p.Asn1720fs) rs397515202
NM_000548.5(TSC2):c.5159del (p.Asn1720fs) rs137854294
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5160+1G>C rs45517399
NM_000548.5(TSC2):c.5160+1G>T rs45517399
NM_000548.5(TSC2):c.5160+23G>A rs368565375
NM_000548.5(TSC2):c.5160+2T>C rs397515170
NM_000548.5(TSC2):c.5160+2_5160+3del rs137854036
NM_000548.5(TSC2):c.5160+2dup rs397514969
NM_000548.5(TSC2):c.5160+37C>T rs45517400
NM_000548.5(TSC2):c.5160+3G>C rs45517401
NM_000548.5(TSC2):c.5160+43C>T rs45517402
NM_000548.5(TSC2):c.5160+4A>G rs45517403
NM_000548.5(TSC2):c.5160+5G>A rs45515392
NM_000548.5(TSC2):c.5160+5G>T rs45515392
NM_000548.5(TSC2):c.5160+6dup rs1555440266
NM_000548.5(TSC2):c.5160+7G>C rs45506600
NM_000548.5(TSC2):c.5160T>A (p.Asn1720Lys) rs137854883
NM_000548.5(TSC2):c.5161-10A>C rs1800718
NM_000548.5(TSC2):c.5161-10_5161-7del rs137854033
NM_000548.5(TSC2):c.5161-13C>G rs45517405
NM_000548.5(TSC2):c.5161-15T>C rs397515279
NM_000548.5(TSC2):c.5161-1G>A rs45517404
NM_000548.5(TSC2):c.5161-1G>C rs45517404
NM_000548.5(TSC2):c.5161-1G>T rs45517404
NM_000548.5(TSC2):c.5161-26_5161-23del rs137854062
NM_000548.5(TSC2):c.5161-27_5161-25del rs137854351
NM_000548.5(TSC2):c.5161-28_5161-25del rs1799758
NM_000548.5(TSC2):c.5161-4C>G rs45517406
NM_000548.5(TSC2):c.5161-9C>A rs45515893
NM_000548.5(TSC2):c.5161-9C>T rs45515893
NM_000548.5(TSC2):c.5161A>C (p.Met1721Leu) rs45517407
NM_000548.5(TSC2):c.5161del (p.Met1721fs) rs137854251
NM_000548.5(TSC2):c.5164G>C (p.Ala1722Pro) rs397515270
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro) rs45517408
NM_000548.5(TSC2):c.5168_5169CA[1] (p.Gln1724fs) rs137854085
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter) rs45472701
NM_000548.5(TSC2):c.5173del (p.Val1725fs) rs137854077
NM_000548.5(TSC2):c.5176dup (p.His1726fs) rs397515155
NM_000548.5(TSC2):c.5184C>T (p.Ser1728=) rs397514955
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409
NM_000548.5(TSC2):c.5192del (p.Asn1731fs) rs397514973
NM_000548.5(TSC2):c.5197_5212del (p.Thr1733fs) rs137854091
NM_000548.5(TSC2):c.5197dup (p.Thr1733fs) rs137854414
NM_000548.5(TSC2):c.5202T>A (p.Asp1734Glu) rs1748
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.5(TSC2):c.5204_5207dup (p.Pro1737fs) rs397515053
NM_000548.5(TSC2):c.5208C>A (p.Tyr1736Ter) rs45517410
NM_000548.5(TSC2):c.5211_5214del (p.Lys1739fs) rs137854408
NM_000548.5(TSC2):c.5214dup (p.Lys1739fs) rs397515139
NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter) rs137854219
NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter) rs45517411
NM_000548.5(TSC2):c.5220_5225dup (p.Ile1741_Ala1742dup) rs137854107
NM_000548.5(TSC2):c.5224_5241del (p.Ala1742_Ile1747del) rs397515245
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.5228G>C (p.Arg1743Pro) rs45507199
NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu) rs45507199
NM_000548.5(TSC2):c.5230_5236del (p.Leu1744fs) rs397515001
NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro) rs45517413
NM_000548.5(TSC2):c.5234_5237del (p.Arg1745fs) rs137854396
NM_000548.5(TSC2):c.5234_5238del (p.Arg1745fs) rs137854002
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5247del (p.Leu1750fs) rs397515109
NM_000548.5(TSC2):c.5247dup (p.Leu1750fs) rs397515109
NM_000548.5(TSC2):c.5248C>T (p.Leu1750Phe) rs45459299
NM_000548.5(TSC2):c.5249T>C (p.Leu1750Pro) rs397515217
NM_000548.5(TSC2):c.5252_5259+19del rs137854397
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.5259+38C>G rs45517415
NM_000548.5(TSC2):c.525del (p.Glu175fs) rs137854277
NM_000548.5(TSC2):c.5260-15C>T rs45517416
NM_000548.5(TSC2):c.5260-25C>G rs13332222
NM_000548.5(TSC2):c.5260-42C>T rs45517417
NM_000548.5(TSC2):c.5260-49C>T rs13332221
NM_000548.5(TSC2):c.5262C>T (p.Ile1754=) rs397515318
NM_000548.5(TSC2):c.5269_5270dup (p.Ala1758fs) rs397514925
NM_000548.5(TSC2):c.5276C>A (p.Ala1759Asp) rs45477298
NM_000548.5(TSC2):c.5285del (p.Asn1762fs) rs137854169
NM_000548.5(TSC2):c.529del (p.Leu177fs) rs137853991
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu) rs137854214
NM_000548.5(TSC2):c.5318A>C (p.His1773Pro) rs45517418
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5331T>C (p.Pro1777=) rs370820622
NM_000548.5(TSC2):c.5340_5371del (p.Pro1784fs) rs137854420
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.5363A>T (p.Tyr1788Phe) rs397515221
NM_000548.5(TSC2):c.5365G>C (p.Glu1789Gln) rs45517420
NM_000548.5(TSC2):c.5371G>A (p.Gly1791Ser) rs45517421
NM_000548.5(TSC2):c.5376G>C (p.Gln1792His) rs45517422
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000548.5(TSC2):c.5380_5382dup (p.Lys1794dup) rs137854335
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.5384G>T (p.Arg1795Leu) rs137854288
NM_000548.5(TSC2):c.5386C>A (p.Leu1796Ile) rs45455398
NM_000548.5(TSC2):c.5388dup (p.Ile1797fs) rs137854130
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.5402_5403del (p.Glu1801fs) rs397514972
NM_000548.5(TSC2):c.5408dup (p.Thr1804fs) rs137854228
NM_000548.5(TSC2):c.5412C>T (p.Thr1804=) rs397515252
NM_000548.5(TSC2):c.5414dup (p.Phe1806fs) rs397515143
NM_000548.5(TSC2):c.5418_5419TG[1] (p.Val1807fs) rs137854027
NM_000548.5(TSC2):c.5418_5419TG[2] (p.Ter1808ArgextTer?) rs137854027
NM_000548.5(TSC2):c.5419G>T (p.Val1807Leu) rs45486402
NM_000548.5(TSC2):c.548T>A (p.Leu183Ter) rs45470502
NM_000548.5(TSC2):c.560A>T (p.Asn187Ile) rs45505405
NM_000548.5(TSC2):c.565_575del (p.Cys189fs) rs397515120
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter) rs137854359
NM_000548.5(TSC2):c.570C>A (p.Tyr190Ter) rs397515099
NM_000548.5(TSC2):c.573C>T (p.Leu191=) rs397515059
NM_000548.5(TSC2):c.577G>T (p.Glu193Ter) rs45517112
NM_000548.5(TSC2):c.585C>A (p.Ile195=) rs397515309
NM_000548.5(TSC2):c.586G>A (p.Ala196Thr) rs45517113
NM_000548.5(TSC2):c.589dup (p.Arg197fs) rs137854172
NM_000548.5(TSC2):c.591del (p.Met198fs) rs137854300
NM_000548.5(TSC2):c.593T>C (p.Met198Thr) rs45517114
NM_000548.5(TSC2):c.598C>T (p.Gln200Ter) rs45517115
NM_000548.5(TSC2):c.599+1G>A rs45460895
NM_000548.5(TSC2):c.599+2T>G rs45484992
NM_000548.5(TSC2):c.599+3A>G rs397514899
NM_000548.5(TSC2):c.599+4A>G rs397515140
NM_000548.5(TSC2):c.599+5G>A rs45463996
NM_000548.5(TSC2):c.599+5G>C rs45463996
NM_000548.5(TSC2):c.600-13G>C rs45517116
NM_000548.5(TSC2):c.600-15C>T rs369708731
NM_000548.5(TSC2):c.600-1G>A rs45517117
NM_000548.5(TSC2):c.600-2A>G rs45468592
NM_000548.5(TSC2):c.600-36C>T rs397515057
NM_000548.5(TSC2):c.600-84C>T rs35364892
NM_000548.5(TSC2):c.603G>C (p.Met201Ile) rs45506197
NM_000548.5(TSC2):c.618C>A (p.Cys206Ter) rs45498496
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp) rs374410454
NM_000548.5(TSC2):c.633del (p.Ser212fs) rs137854205
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter) rs45517118
NM_000548.5(TSC2):c.648+117C>G rs45460197
NM_000548.5(TSC2):c.648+1G>A rs45488893
NM_000548.5(TSC2):c.649-26G>T rs201910214
NM_000548.5(TSC2):c.655del (p.Leu219fs) rs397515286
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro) rs397515249
NM_000548.5(TSC2):c.657del (p.Gln220fs) rs397515181
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter) rs45517119
NM_000548.5(TSC2):c.665T>C (p.Leu222Pro) rs45517120
NM_000548.5(TSC2):c.665_671del (p.Leu222fs) rs397514921
NM_000548.5(TSC2):c.667G>T (p.Asp223Tyr) rs45517121
NM_000548.5(TSC2):c.672del (p.Val225fs) rs137854174
NM_000548.5(TSC2):c.680G>A (p.Cys227Tyr) rs45517122
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205
NM_000548.5(TSC2):c.684C>A (p.Tyr228Ter) rs397515034
NM_000548.5(TSC2):c.684del (p.Cys227_Tyr228insTer) rs397515124
NM_000548.5(TSC2):c.700G>T (p.Glu234Ter) rs397515018
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn) rs397514957
NM_000548.5(TSC2):c.707dup (p.Leu238fs) rs137854056
NM_000548.5(TSC2):c.709_710dup (p.Leu238fs) rs397515166
NM_000548.5(TSC2):c.710del (p.Pro237fs) rs397515166
NM_000548.5(TSC2):c.720C>T (p.Ile240=) rs45517123
NM_000548.5(TSC2):c.720_722del (p.Val241del) rs397514893
NM_000548.5(TSC2):c.724dup (p.Thr242fs) rs397515256
NM_000548.5(TSC2):c.727_728CT[1] (p.Cys244fs) rs137854236
NM_000548.5(TSC2):c.727del (p.Leu243fs) rs397514956
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000548.5(TSC2):c.730T>C (p.Cys244Arg) rs137854101
NM_000548.5(TSC2):c.731G>A (p.Cys244Tyr) rs45517124
NM_000548.5(TSC2):c.731_732del (p.Cys244fs) rs137854191
NM_000548.5(TSC2):c.734G>A (p.Arg245His) rs397515011
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123
NM_000548.5(TSC2):c.759C>A (p.Cys253Ter) rs45517125
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys) rs45517126
NM_000548.5(TSC2):c.760G>T (p.Glu254Ter) rs45517126
NM_000548.5(TSC2):c.767dup (p.Cys256fs) rs137854025
NM_000548.5(TSC2):c.768C>A (p.Cys256Ter) rs45517127
NM_000548.5(TSC2):c.774+1G>A rs45517128
NM_000548.5(TSC2):c.774+1G>C rs45517128
NM_000548.5(TSC2):c.774+1G>T rs45517128
NM_000548.5(TSC2):c.774+24G>T rs397515312
NM_000548.5(TSC2):c.774+28G>C rs137854195
NM_000548.5(TSC2):c.774+2T>A rs45517129
NM_000548.5(TSC2):c.774G>C (p.Lys258Asn) rs137854875
NM_000548.5(TSC2):c.775-17C>A rs137854299
NM_000548.5(TSC2):c.775-1G>A rs45454192
NM_000548.5(TSC2):c.775-3C>G rs397514909
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp) rs45517130
NM_000548.5(TSC2):c.782G>C (p.Arg261Pro) rs45502703
NM_000548.5(TSC2):c.791T>C (p.Leu264Pro) rs45517131
NM_000548.5(TSC2):c.821_823ACA[1] (p.Asn275del) rs397514926
NM_000548.5(TSC2):c.825C>A (p.Asn275Lys) rs45468594
NM_000548.5(TSC2):c.825C>G (p.Asn275Lys) rs45468594
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977
NM_000548.5(TSC2):c.832dup (p.His278fs) rs137854020
NM_000548.5(TSC2):c.833A>C (p.His278Pro) rs397515266
NM_000548.5(TSC2):c.848+1G>A rs45466296
NM_000548.5(TSC2):c.848+281C>T rs45517132
NM_000548.5(TSC2):c.848+39G>T rs45453000
NM_000548.5(TSC2):c.848+3del rs137854057
NM_000548.5(TSC2):c.848+7G>A rs45442896
NM_000548.5(TSC2):c.849-17C>T rs45517133
NM_000548.5(TSC2):c.849-1G>A rs45506396
NM_000548.5(TSC2):c.849-1G>C rs45506396
NM_000548.5(TSC2):c.849-24C>T rs373618207
NM_000548.5(TSC2):c.849-2A>G rs45517134
NM_000548.5(TSC2):c.849-3T>G rs45489591
NM_000548.5(TSC2):c.849-53G>A rs45517135
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748
NM_000548.5(TSC2):c.857T>C (p.Met286Thr) rs45517136
NM_000548.5(TSC2):c.859G>T (p.Glu287Ter) rs397515300
NM_000548.5(TSC2):c.871C>T (p.Leu291=) rs45517137
NM_000548.5(TSC2):c.871dup (p.Leu291fs) rs137854052
NM_000548.5(TSC2):c.875T>C (p.Leu292Pro) rs45517138
NM_000548.5(TSC2):c.877_878AG[1] (p.Gly294fs) rs137854364
NM_000548.5(TSC2):c.880G>A (p.Gly294Arg) rs45517139
NM_000548.5(TSC2):c.881G>A (p.Gly294Glu) rs45487497
NM_000548.5(TSC2):c.889_890delinsA (p.Phe297fs) rs137853976
NM_000548.5(TSC2):c.894dup (p.Val299fs) rs137854024
NM_000548.5(TSC2):c.896T>G (p.Val299Gly) rs397514986
NM_000548.5(TSC2):c.900_914dup (p.Met301_Gly305dup) rs137854259
NM_000548.5(TSC2):c.905_906CT[4] (p.Trp304fs) rs397515253
NM_000548.5(TSC2):c.909_928del (p.Trp304fs) rs137854012
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000548.5(TSC2):c.910_911del (p.Trp304fs) rs397515106
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter) rs45517140
NM_000548.5(TSC2):c.912G>A (p.Trp304Ter) rs397514884
NM_000548.5(TSC2):c.925del (p.Leu309fs) rs137854138
NM_000548.5(TSC2):c.926_927delinsAG (p.Leu309Gln) rs137853986
NM_000548.5(TSC2):c.926del (p.Leu309fs) rs397515190
NM_000548.5(TSC2):c.928dup (p.Tyr310fs) rs397515031
NM_000548.5(TSC2):c.940_941insCT (p.Asn314fs) rs137854386
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141
NM_000548.5(TSC2):c.949_950insTA (p.Thr317fs) rs397515153
NM_000548.5(TSC2):c.955_956GT[1] (p.Leu320fs) rs137854347
NM_000548.5(TSC2):c.956dup (p.Leu320fs) rs137854263
NM_000548.5(TSC2):c.960G>T (p.Leu320Phe) rs1131825
NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter) rs45517143
NM_000548.5(TSC2):c.972C>G (p.Tyr324Ter) rs45517143
NM_000548.5(TSC2):c.973C>T (p.Gln325Ter) rs397515097
NM_000548.5(TSC2):c.975+13C>T rs200564575
NM_000548.5(TSC2):c.975+1G>A rs137854200
NM_000548.5(TSC2):c.975+1G>T rs137854200
NM_000548.5(TSC2):c.975+1del rs137854388
NM_000548.5(TSC2):c.975+5G>C rs45458600
NM_000548.5(TSC2):c.975+5G>T rs45458600
NM_000548.5(TSC2):c.975+8G>A rs137853984
NM_000548.5(TSC2):c.976-14G>A rs397515186
NM_000548.5(TSC2):c.976-15G>A rs45517150
NM_000548.5(TSC2):c.976-1G>A rs45451199
NM_000548.5(TSC2):c.976-1G>T rs45451199
NM_000548.5(TSC2):c.976-3C>G rs45517151
NM_000548.5(TSC2):c.976-40G>A rs137854031
NM_000548.5(TSC2):c.976-63G>A rs12927333
NM_000548.5(TSC2):c.978dup (p.Met327fs) rs397514960
NM_000548.5(TSC2):c.979_980dup (p.Met327fs) rs397515176
NM_000548.5(TSC2):c.982G>C (p.Ala328Pro) rs45517152
NM_000548.5(TSC2):c.993C>A (p.Asn331Lys) rs45517153
NM_000548.5(TSC2):c.993C>T (p.Asn331=) rs45517153
NM_000777.5(CYP3A5):c.1165C>T (p.Pro389Ser) rs765108001
NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr) rs1564405163
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) rs724159823
NM_001009944.3(PKD1):c.1278_1280GGC[1] (p.Ala428del) rs724159824
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs) rs1555462463
NM_001009944.3(PKD1):c.3133G>C (p.Val1045Leu) rs724159822
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys)
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_001009944.3(PKD1):c.9988dup (p.Ser3330fs) rs796053523
NM_001079846.1(CREBBP):c.2827G>A (p.Ala943Thr) rs61753380
NM_001081.3(CUBN):c.1000C>T (p.Gln334Ter) rs561240556
NM_001081.3(CUBN):c.7646C>T (p.Thr2549Met) rs537292240
NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr) rs1553238545
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001145901.2(SARS2):c.30G>A (p.Trp10Ter) rs145754412
NM_001145901.2(SARS2):c.700C>T (p.Arg234Cys) rs201347156
NM_001162426.2(TSC1):c.1110_1111AC[3] (p.Pro372fs) rs118203498
NM_001162426.2(TSC1):c.1361_1362CT[1] (p.Leu455fs) rs397514798
NM_001162426.2(TSC1):c.1485_1486TG[1] (p.Val496fs) rs118203536
NM_001162426.2(TSC1):c.1510_1511TC[3] (p.Pro505fs) rs281875358
NM_001162426.2(TSC1):c.1530_1531TC[1] (p.Leu511fs) rs397514823
NM_001162426.2(TSC1):c.1705_1706del (p.Arg569fs) rs118203564
NM_001162426.2(TSC1):c.1754_1765delinsCA (p.Cys585fs) rs397514857
NM_001162426.2(TSC1):c.1899_1900CA[1] (p.Thr634fs) rs118203597
NM_001162426.2(TSC1):c.1902_1903AG[1] (p.Glu635fs) rs118203599
NM_001162426.2(TSC1):c.2020del (p.Asp674fs) rs118203620
NM_001162426.2(TSC1):c.2041_2042TC[1] (p.Pro682fs) rs397514869
NM_001162426.2(TSC1):c.2044_2046CCT[1] (p.Pro683del) rs397514799
NM_001162426.2(TSC1):c.2066_2071delinsACACTT (p.Thr689_Arg691delinsAsnThrTer) rs118203630
NM_001162426.2(TSC1):c.2100_2103dup (p.Leu702fs) rs118203638
NM_001162426.2(TSC1):c.2103delinsGT (p.Leu702fs) rs397514838
NM_001162426.2(TSC1):c.2104_2105CT[1] (p.Leu702_Tyr703insTer) rs118203643
NM_001162426.2(TSC1):c.2108_2109del (p.Leu702_Tyr703insTer) rs118203645
NM_001162426.2(TSC1):c.2142del (p.Asn715fs) rs118203650
NM_001162426.2(TSC1):c.2261_2264AGAA[1] (p.Lys755fs) rs118203665
NM_001162426.2(TSC1):c.2323_2324CA[1] (p.His775fs) rs118203678
NM_001162426.2(TSC1):c.2458_2459GT[2] (p.Cys821fs) rs118203694
NM_001162426.2(TSC1):c.2465_2466AC[1] (p.His822_Thr823insTer) rs118203697
NM_001162426.2(TSC1):c.2556_2559del (p.Leu852fs) rs118203711
NM_001162426.2(TSC1):c.2566del (p.Glu856fs) rs118203712
NM_001162426.2(TSC1):c.2623-4del rs5901000
NM_001162426.2(TSC1):c.2669dup (p.Asn890fs) rs118203724
NM_001162426.2(TSC1):c.2781_2782AT[1] (p.Tyr928fs) rs118203734
NM_001162426.2(TSC1):c.3109_3111AGC[5] (p.Ser1042del) rs2234980
NM_001162426.2(TSC1):c.3109_3111AGC[7] (p.Ser1042dup) rs2234980
NM_001162426.2(TSC1):c.3109_3111AGC[8] (p.Ser1041_Ser1042dup) rs2234980
NM_001162426.2(TSC1):c.381_383del (p.Val128del) rs118203378
NM_001162426.2(TSC1):c.395_406delinsCA (p.Gly132fs) rs118203380
NM_001162426.2(TSC1):c.431_432CA[1] (p.Gln145fs) rs118203383
NM_001162426.2(TSC1):c.568C>T (p.Arg190Cys) rs118203400