ClinVar Miner

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

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2960
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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.3526G>T (p.Gly1176Ter) rs137853279
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_000142.4(FGFR3):c.1331C>T (p.Ser444Phe)
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)
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.2078_2080TGA[1] (p.Met694del) rs104895091
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.334dup (p.Glu112fs) rs104895109
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.374_382AGGGGAACG[3] (p.125_127EGN[3]) rs104895121
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.761_764dup (p.Asn256fs) rs104895138
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_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.*2893delA 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.1096_1109del (p.Pro366fs) rs118203494
NM_000368.4(TSC1):c.109dup (p.Arg37fs) rs118203333
NM_000368.4(TSC1):c.1101_1114del (p.Asp368fs) rs118203495
NM_000368.4(TSC1):c.1105C>T (p.Leu369=) rs118203496
NM_000368.4(TSC1):c.1110_1111AC[3] (p.Pro372fs) rs118203498
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.1257del (p.Arg420fs) rs118203506
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.130dup (p.Thr44fs) rs118203336
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.1364_1365CT[1] (p.Leu456fs) rs397514798
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.1431_1434del (p.Glu478fs) rs118203527
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.145del (p.Tyr49fs) rs118203339
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.146del (p.Tyr49fs) rs397514861
NM_000368.4(TSC1):c.1470del (p.Thr491fs) rs118203534
NM_000368.4(TSC1):c.1481dup (p.Glu495fs) rs118203535
NM_000368.4(TSC1):c.1488_1489TG[1] (p.Val497fs) rs118203536
NM_000368.4(TSC1):c.148del (p.Leu50fs) rs118203340
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.1513_1514TC[3] (p.Pro506fs) rs281875358
NM_000368.4(TSC1):c.1515dup (p.Pro506fs) rs118203540
NM_000368.4(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
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.1533_1534TC[1] (p.Leu512fs) rs397514823
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.1580_1581del (p.Gln527fs) rs118203550
NM_000368.4(TSC1):c.1584C>T (p.Gly528=) rs149439187
NM_000368.4(TSC1):c.1615del (p.Ser539fs) rs118203551
NM_000368.4(TSC1):c.1631_1647del (p.Gly544fs) 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.1683_1705dup (p.Asp569fs) 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.1708_1709del (p.Arg570fs) rs118203564
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.1757_1768delinsCA (p.Cys586fs) rs397514857
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_1887AAAG[1] (p.Lys630fs)
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.1902_1903CA[1] (p.Thr635fs) rs118203597
NM_000368.4(TSC1):c.1905_1906AG[1] (p.Glu636fs) rs118203599
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.1959dup (p.Gln654fs) rs118203603
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.2023del (p.Asp675fs) rs118203620
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.2044_2045TC[1] (p.Pro683fs) rs397514869
NM_000368.4(TSC1):c.2047_2049CCT[1] (p.Pro684del) rs397514799
NM_000368.4(TSC1):c.2054C>A (p.Ser685Ter) rs118203629
NM_000368.4(TSC1):c.2069_2074delinsACACTT (p.Thr690_Arg692delinsAsnThrTer) rs118203630
NM_000368.4(TSC1):c.2070_2097dup (p.Asn700fs) rs1554815323
NM_000368.4(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
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_2106dup (p.Leu703fs) rs118203638
NM_000368.4(TSC1):c.2103_2109dup (p.Tyr704fs) rs118203641
NM_000368.4(TSC1):c.2106_2107insGTTTA (p.Leu703fs) rs118203642
NM_000368.4(TSC1):c.2106delinsGT (p.Leu703fs) rs397514838
NM_000368.4(TSC1):c.2107_2108CT[1] (p.Leu703_Tyr704insTer) rs118203643
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.2111_2112del (p.Leu703_Tyr704insTer) rs118203645
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.2145del (p.Asn716fs) rs118203650
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.2264_2267AGAA[1] (p.Lys756fs) rs118203665
NM_000368.4(TSC1):c.2272C>T (p.Gln758Ter) rs397514783
NM_000368.4(TSC1):c.227T>A (p.Ile76Asn) rs118203355
NM_000368.4(TSC1):c.2280_2295del (p.Tyr761fs) rs118203666
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.2326_2327CA[1] (p.His776fs) rs118203678
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.2356C>T (p.Arg786Ter) rs118203682
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.2412_2425del (p.Asn805fs) 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.2461_2462GT[2] (p.Cys822fs) rs118203694
NM_000368.4(TSC1):c.2468_2469AC[1] (p.His823_Thr824insTer) rs118203697
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.2509_2512del (p.Asn837fs) rs118203707
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.252dup (p.Thr85fs) rs118203358
NM_000368.4(TSC1):c.2559_2562del (p.Leu853fs) rs118203711
NM_000368.4(TSC1):c.2569del (p.Glu857fs) rs118203712
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.2626-4delT 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.2672del (p.Asn891fs) rs118203724
NM_000368.4(TSC1):c.2672dup (p.Asn891fs) rs118203724
NM_000368.4(TSC1):c.2675_2676del (p.Arg892fs) rs118203726
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.2698C>T (p.Gln900Ter) rs397514871
NM_000368.4(TSC1):c.2699del (p.Gln900fs) rs118203731
NM_000368.4(TSC1):c.269_270TC[1] (p.Ser91fs) rs118203360
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.276dup (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.2784_2785AT[1] (p.Tyr929fs) rs118203734
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.2811_2813+2del5 rs118203736
NM_000368.4(TSC1):c.2813+3_2813+21del19 rs118203737
NM_000368.4(TSC1):c.2813+51A>G rs118203738
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2830_2831insGCCTG (p.Ala944fs) 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.3112_3114AGC[5] (p.Ser1043del) rs2234980
NM_000368.4(TSC1):c.3112_3114AGC[7] (p.Ser1043dup) rs2234980
NM_000368.4(TSC1):c.3112_3114AGC[8] (p.Ser1042_Ser1043dup) rs2234980
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.320_321TC[2] (p.Gln109fs) rs397514795
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.332_333CT[3] (p.Leu113fs) rs118203366
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.338del (p.Leu113fs) rs118203367
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+1dupG rs118203371
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.381_383del (p.Val128del) rs118203378
NM_000368.4(TSC1):c.385dup (p.Leu129fs) rs397514852
NM_000368.4(TSC1):c.395G>A (p.Gly132Asp) rs397514784
NM_000368.4(TSC1):c.395_406delinsCA (p.Gly132fs) rs118203380
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.431_432CA[1] (p.Gln145fs) rs118203383
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.527_528del (p.Tyr176fs) 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.568C>T (p.Arg190Cys) rs118203400
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.682C>T (p.Arg228Ter) rs118203427
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.70del (p.Asp24fs) rs118203330
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.733C>T (p.Arg245Ter) rs118203434
NM_000368.4(TSC1):c.737+1G>A rs118203438
NM_000368.4(TSC1):c.737+1G>T rs118203438
NM_000368.4(TSC1):c.737+1del rs118203435
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.810_811AT[1] (p.Ser270_Tyr271insTer) rs118203451
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.832_833TC[1] (p.His279fs) rs118203457
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.866C>G (p.Ser289Ter) rs397514867
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.897_898CA[2] (p.Gln301fs) rs118203464
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.973C>T (p.Gln325Ter) rs118203474
NM_000368.4(TSC1):c.983dup (p.Thr329fs) rs118203475
NM_000368.4(TSC1):c.986_987CT[1] (p.Leu330fs) rs118203477
NM_000368.4(TSC1):c.988dup (p.Leu330fs) rs118203476
NM_000368.4(TSC1):c.989_990del (p.Leu330fs) rs118203479
NM_000368.4(TSC1):c.989del (p.Leu330fs) rs397514870
NM_000368.4(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000368.4(TSC1):c.994_995insA (p.Ser332fs) rs118203480
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.1030_1032GAG[1] (p.Glu345del) rs483352855
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.484_485CT[1] (p.Tyr163fs) rs483352850
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_000492.3(CFTR):c.*80T>G rs397508135
NM_000492.3(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.3(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.3(CFTR):c.1012A>G (p.Thr338Ala) rs397508142
NM_000492.3(CFTR):c.1037T>C (p.Leu346Pro) rs397508146
NM_000492.3(CFTR):c.1039C>T (p.Arg347Cys) rs397508147
NM_000492.3(CFTR):c.1059A>C (p.Gln353His) rs1800087
NM_000492.3(CFTR):c.105dup (p.Asp36fs) rs397508149
NM_000492.3(CFTR):c.1069del (p.Ala357fs) rs397508151
NM_000492.3(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys) rs397508152
NM_000492.3(CFTR):c.1081T>A (p.Trp361Arg) rs397508154
NM_000492.3(CFTR):c.1086T>A (p.Tyr362Ter) rs397508155
NM_000492.3(CFTR):c.1086T>G (p.Tyr362Ter) rs397508155
NM_000492.3(CFTR):c.1094T>C (p.Leu365Pro) rs76727851
NM_000492.3(CFTR):c.1106_1111dup (p.Asn369_Lys370dup) rs397508156
NM_000492.3(CFTR):c.110_111TA[1] (p.Tyr38fs) rs397508162
NM_000492.3(CFTR):c.1116+1G>C rs397508158
NM_000492.3(CFTR):c.1117-27_1117-26delTA rs397508159
NM_000492.3(CFTR):c.1125A>C (p.Leu375Phe) rs73215912
NM_000492.3(CFTR):c.1148T>C (p.Leu383Ser) rs397508166
NM_000492.3(CFTR):c.1152del (p.Glu384fs) rs397508167
NM_000492.3(CFTR):c.1175T>C (p.Val392Ala) rs397508170
NM_000492.3(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.3(CFTR):c.1177del (p.Val392_Val393insTer) rs397508171
NM_000492.3(CFTR):c.1196C>A (p.Ala399Asp) rs146463120
NM_000492.3(CFTR):c.1209G>A (p.Glu403=) rs397508177
NM_000492.3(CFTR):c.1209G>C (p.Glu403Asp) rs397508177
NM_000492.3(CFTR):c.1210-1G>C rs397508178
NM_000492.3(CFTR):c.1234del (p.Ala412fs) rs397508181
NM_000492.3(CFTR):c.1235del (p.Ala412fs) rs397508182
NM_000492.3(CFTR):c.131A>G (p.Asp44Gly) rs1800074
NM_000492.3(CFTR):c.1322T>C (p.Leu441Pro) rs397508188
NM_000492.3(CFTR):c.1328_1329AT[1] (p.Asp443_Ile444insTer) rs397508190
NM_000492.3(CFTR):c.1331T>G (p.Ile444Ser) rs397508191
NM_000492.3(CFTR):c.1366G>T (p.Val456Phe) rs397508195
NM_000492.3(CFTR):c.1393-18G>A rs397508199
NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.3(CFTR):c.1403T>C (p.Leu468Pro) rs397508202
NM_000492.3(CFTR):c.1405A>G (p.Met469Val) rs397508203
NM_000492.3(CFTR):c.1407G>T (p.Met469Ile) rs143218779
NM_000492.3(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.3(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.3(CFTR):c.1446dup (p.Lys483Ter) rs397508209
NM_000492.3(CFTR):c.1478A>C (p.Gln493Pro) rs397508214
NM_000492.3(CFTR):c.1478A>G (p.Gln493Arg) rs397508214
NM_000492.3(CFTR):c.1487G>A (p.Trp496Ter) rs397508216
NM_000492.3(CFTR):c.1495C>G (p.Pro499Ala) rs397508219
NM_000492.3(CFTR):c.149C>A (p.Ser50Tyr) rs397508220
NM_000492.3(CFTR):c.1501A>G (p.Thr501Ala) rs397508221
NM_000492.3(CFTR):c.1505T>C (p.Ile502Thr) rs397508222
NM_000492.3(CFTR):c.1510G>C (p.Glu504Gln) rs397508223
NM_000492.3(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.3(CFTR):c.1517T>G (p.Ile506Ser) rs397508224
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.3(CFTR):c.1584+18672A>G rs397508229
NM_000492.3(CFTR):c.1584G>T (p.Glu528Asp) rs1800095
NM_000492.3(CFTR):c.1585-2A>G rs397508233
NM_000492.3(CFTR):c.1585-9T>A rs397508234
NM_000492.3(CFTR):c.1588A>C (p.Ile530Leu) rs397508237
NM_000492.3(CFTR):c.1597T>C (p.Phe533Leu) rs397508238
NM_000492.3(CFTR):c.1606A>T (p.Lys536Ter) rs148173473
NM_000492.3(CFTR):c.1611_1612del (p.Asp537fs) rs397508239
NM_000492.3(CFTR):c.1631G>T (p.Gly544Val) rs397508241
NM_000492.3(CFTR):c.164+12T>C rs121908790
NM_000492.3(CFTR):c.164+1G>C rs397508243
NM_000492.3(CFTR):c.164+1G>T rs397508243
NM_000492.3(CFTR):c.164+2T>A rs121908800
NM_000492.3(CFTR):c.164+2T>C rs121908800
NM_000492.3(CFTR):c.164+3_164+4insT rs397508244
NM_000492.3(CFTR):c.164+9A>T rs397508245
NM_000492.3(CFTR):c.1648G>A (p.Gly550Arg) rs397508247
NM_000492.3(CFTR):c.1652del (p.Gly551fs) rs397508252
NM_000492.3(CFTR):c.1657C>G (p.Arg553Gly) rs74597325
NM_000492.3(CFTR):c.1660_1661insA (p.Ala554fs) rs397508254
NM_000492.3(CFTR):c.1663A>G (p.Arg555Gly) rs397508255
NM_000492.3(CFTR):c.1670del (p.Ser557fs) rs397508257
NM_000492.3(CFTR):c.1678A>G (p.Arg560Gly) rs397508260
NM_000492.3(CFTR):c.1679+5A>G rs397508264
NM_000492.3(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.3(CFTR):c.1687T>G (p.Tyr563Asp) rs121909006
NM_000492.3(CFTR):c.168del (p.Glu56fs) rs397508269
NM_000492.3(CFTR):c.1694A>G (p.Asp565Gly) rs397508270
NM_000492.3(CFTR):c.169T>C (p.Trp57Arg) rs397508272
NM_000492.3(CFTR):c.169T>G (p.Trp57Gly) rs397508272
NM_000492.3(CFTR):c.1703del (p.Leu568fs) rs397508274
NM_000492.3(CFTR):c.1704G>T (p.Leu568Phe) rs397508275
NM_000492.3(CFTR):c.1705T>C (p.Tyr569His) rs397508276
NM_000492.3(CFTR):c.1706A>G (p.Tyr569Cys) rs397508277
NM_000492.3(CFTR):c.1707T>A (p.Tyr569Ter) rs397508278
NM_000492.3(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.3(CFTR):c.1714G>A (p.Asp572Asn) rs397508282
NM_000492.3(CFTR):c.1714_1715del (p.Asp572fs) rs397508281
NM_000492.3(CFTR):c.1720C>T (p.Pro574Ser) rs397508283
NM_000492.3(CFTR):c.1726G>T (p.Gly576Ter) rs397508284
NM_000492.3(CFTR):c.172G>A (p.Asp58Asn) rs397508285
NM_000492.3(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.3(CFTR):c.1735G>T (p.Asp579Tyr) rs397508287
NM_000492.3(CFTR):c.1736A>G (p.Asp579Gly) rs397508288
NM_000492.3(CFTR):c.1738del (p.Val580fs) rs397508289
NM_000492.3(CFTR):c.173A>G (p.Asp58Gly) rs397508291
NM_000492.3(CFTR):c.1742dup (p.Leu581fs) rs397508290
NM_000492.3(CFTR):c.1745C>G (p.Thr582Arg) rs397508293
NM_000492.3(CFTR):c.1745C>T (p.Thr582Ile) rs397508293
NM_000492.3(CFTR):c.174_177del (p.Asp58fs) rs397508295
NM_000492.3(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.3(CFTR):c.1766+5G>A rs121908796
NM_000492.3(CFTR):c.1766+73T>G rs397508299
NM_000492.3(CFTR):c.1766G>C (p.Ser589Thr) rs397508300
NM_000492.3(CFTR):c.1766G>T (p.Ser589Ile) rs397508300
NM_000492.3(CFTR):c.1786_1787del (p.Met595_Ala596insTer) rs397508301
NM_000492.3(CFTR):c.178G>A (p.Glu60Lys) rs77284892
NM_000492.3(CFTR):c.1798A>G (p.Arg600Gly) rs397508305
NM_000492.3(CFTR):c.1801A>T (p.Ile601Phe) rs397508306
NM_000492.3(CFTR):c.1802T>C (p.Ile601Thr) rs397508307
NM_000492.3(CFTR):c.1807G>T (p.Val603Phe) rs143036685
NM_000492.3(CFTR):c.1811C>G (p.Thr604Ser) rs397508308
NM_000492.3(CFTR):c.1823A>G (p.Glu608Gly) rs397508309
NM_000492.3(CFTR):c.1826A>G (p.His609Arg) rs397508310
NM_000492.3(CFTR):c.1829T>C (p.Leu610Ser) rs397508311
NM_000492.3(CFTR):c.1837G>A (p.Ala613Thr) rs201978662
NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly) rs201124247
NM_000492.3(CFTR):c.1856T>C (p.Leu619Ser) rs397508313
NM_000492.3(CFTR):c.1859A>C (p.His620Pro) rs397508314
NM_000492.3(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.3(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.3(CFTR):c.1882G>C (p.Gly628Arg) rs397508316
NM_000492.3(CFTR):c.1898T>C (p.Leu633Pro) rs397508318
NM_000492.3(CFTR):c.1909C>T (p.Gln637Ter) rs397508320
NM_000492.3(CFTR):c.1919_1920del (p.Asp639_Phe640insTer) rs397508322
NM_000492.3(CFTR):c.1966G>T (p.Glu656Ter) rs397508323
NM_000492.3(CFTR):c.1976del (p.Asn659fs) rs121908809
NM_000492.3(CFTR):c.1981del (p.Ile661fs) rs397508324
NM_000492.3(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.3(CFTR):c.202A>G (p.Lys68Glu) rs397508332
NM_000492.3(CFTR):c.2045dup (p.Gln685fs) rs397508334
NM_000492.3(CFTR):c.2051_2052del (p.Lys684fs) rs121908746
NM_000492.3(CFTR):c.2074G>T (p.Glu692Ter) rs397508337
NM_000492.3(CFTR):c.2077T>C (p.Phe693Leu) rs397508338
NM_000492.3(CFTR):c.2087A>G (p.Lys696Arg) rs397508340
NM_000492.3(CFTR):c.2156T>A (p.Leu719Ter) rs397508345
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
NM_000492.3(CFTR):c.2188G>T (p.Glu730Ter) rs397508349
NM_000492.3(CFTR):c.2203del (p.Arg735fs) rs397508351
NM_000492.3(CFTR):c.2204G>A (p.Arg735Lys) rs397508352
NM_000492.3(CFTR):c.224G>T (p.Arg75Leu) rs1800076
NM_000492.3(CFTR):c.2259C>G (p.Ser753Arg) rs201888075
NM_000492.3(CFTR):c.2297G>T (p.Arg766Met) rs397508363
NM_000492.3(CFTR):c.2327C>G (p.Ser776Ter) rs397508365
NM_000492.3(CFTR):c.2346C>A (p.Asn782Lys) rs397508369
NM_000492.3(CFTR):c.236G>A (p.Trp79Ter) rs397508371
NM_000492.3(CFTR):c.2393dup (p.Gln799fs) rs397508372
NM_000492.3(CFTR):c.2399C>G (p.Ala800Gly) rs397508373
NM_000492.3(CFTR):c.2411A>T (p.Glu804Val) rs397508374
NM_000492.3(CFTR):c.2417A>G (p.Asp806Gly) rs397508375
NM_000492.3(CFTR):c.2428A>G (p.Arg810Gly) rs377447726
NM_000492.3(CFTR):c.2440C>T (p.Gln814Ter) rs397508377
NM_000492.3(CFTR):c.2464G>A (p.Glu822Lys) rs397508378
NM_000492.3(CFTR):c.2472del (p.Asn825fs) rs397508380
NM_000492.3(CFTR):c.2476G>A (p.Glu826Lys) rs397508381
NM_000492.3(CFTR):c.2488A>T (p.Lys830Ter) rs397508382
NM_000492.3(CFTR):c.2522C>G (p.Pro841Arg) rs397508392
NM_000492.3(CFTR):c.254G>T (p.Gly85Val) rs75961395
NM_000492.3(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.3(CFTR):c.2563G>A (p.Val855Ile) rs397508397
NM_000492.3(CFTR):c.2592_2593del (p.Ile864fs) rs397508401
NM_000492.3(CFTR):c.2596T>C (p.Cys866Arg) rs397508402
NM_000492.3(CFTR):c.259T>A (p.Phe87Ile) rs397508403
NM_000492.3(CFTR):c.259T>C (p.Phe87Leu) rs397508403
NM_000492.3(CFTR):c.2619+2T>A rs397508407
NM_000492.3(CFTR):c.2619+3A>G rs397508408
NM_000492.3(CFTR):c.2620-1G>T rs397508410
NM_000492.3(CFTR):c.263T>A (p.Leu88Ter) rs397508412
NM_000492.3(CFTR):c.263T>C (p.Leu88Ser) rs397508412
NM_000492.3(CFTR):c.2645G>A (p.Trp882Ter) rs397508413
NM_000492.3(CFTR):c.2669A>G (p.Gln890Arg) rs397508417
NM_000492.3(CFTR):c.266A>G (p.Tyr89Cys) rs397508418
NM_000492.3(CFTR):c.269T>C (p.Leu90Ser) rs397508421
NM_000492.3(CFTR):c.2723C>A (p.Thr908Asn) rs369521395
NM_000492.3(CFTR):c.274-2A>G rs397508426
NM_000492.3(CFTR):c.2750A>G (p.Tyr917Cys) rs397508428
NM_000492.3(CFTR):c.2754T>G (p.Ile918Met) rs397508429
NM_000492.3(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.3(CFTR):c.2770G>A (p.Asp924Asn) rs201759207
NM_000492.3(CFTR):c.2776_2777del (p.Leu926fs) rs397508433
NM_000492.3(CFTR):c.2777del (p.Leu926fs) rs397508433
NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) rs397508436
NM_000492.3(CFTR):c.2799A>T (p.Arg933Ser) rs397508437
NM_000492.3(CFTR):c.2846A>G (p.His949Arg) rs397508444
NM_000492.3(CFTR):c.2846A>T (p.His949Leu) rs397508444
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2861A>C (p.His954Pro) rs397508446
NM_000492.3(CFTR):c.2876C>T (p.Ala959Val) rs397508448
NM_000492.3(CFTR):c.287C>A (p.Ala96Glu) rs397508449
NM_000492.3(CFTR):c.2909delG rs397508458
NM_000492.3(CFTR):c.2916_2917delinsAT (p.Leu973Phe) rs397508459
NM_000492.3(CFTR):c.2918T>C (p.Leu973Pro) rs397508460
NM_000492.3(CFTR):c.2929T>C (p.Ser977Pro) rs137975784
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.2936A>C (p.Asp979Ala) rs397508462
NM_000492.3(CFTR):c.2936A>T (p.Asp979Val) rs397508462
NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) rs397508463
NM_000492.3(CFTR):c.293A>C (p.Gln98Pro) rs397508464
NM_000492.3(CFTR):c.296C>T (p.Pro99Leu) rs397508467
NM_000492.3(CFTR):c.2977G>T (p.Asp993Tyr) rs397508468
NM_000492.3(CFTR):c.2981T>G (p.Phe994Cys) rs397508469
NM_000492.3(CFTR):c.2989-3C>G rs397508471
NM_000492.3(CFTR):c.2998_3019del (p.Ile1000fs) rs397508474
NM_000492.3(CFTR):c.2998del (p.Ile1000fs) rs397508475
NM_000492.3(CFTR):c.2T>A (p.Met1Lys) rs397508476
NM_000492.3(CFTR):c.3007G>T (p.Gly1003Ter) rs397508478
NM_000492.3(CFTR):c.3008G>A (p.Gly1003Glu) rs55803548
NM_000492.3(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.3(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.3(CFTR):c.3021del (p.Val1008fs) rs397508481
NM_000492.3(CFTR):c.3023T>A (p.Val1008Asp) rs397508483
NM_000492.3(CFTR):c.302T>G (p.Leu101Ter) rs397508484
NM_000492.3(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.3(CFTR):c.3039dup (p.Tyr1014fs) rs121908781
NM_000492.3(CFTR):c.303dup (p.Leu102fs) rs397508486
NM_000492.3(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488
NM_000492.3(CFTR):c.305T>C (p.Leu102Pro) rs397508490
NM_000492.3(CFTR):c.3061C>T (p.Pro1021Ser) rs397508491
NM_000492.3(CFTR):c.3064_3117del (p.Val1022_Gln1039del) rs1554392027
NM_000492.3(CFTR):c.3084G>T (p.Met1028Ile) rs200553511
NM_000492.3(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498
NM_000492.3(CFTR):c.3124C>T (p.Gln1042Ter) rs397508500
NM_000492.3(CFTR):c.3139+1G>T rs397508503
NM_000492.3(CFTR):c.3139G>C (p.Gly1047Arg) rs397508504
NM_000492.3(CFTR):c.3140-4A>G rs397508507
NM_000492.3(CFTR):c.3176T>G (p.Leu1059Ter) rs397508512
NM_000492.3(CFTR):c.3179A>C (p.Lys1060Thr) rs397508513
NM_000492.3(CFTR):c.3189G>A (p.Trp1063Ter) rs397508514
NM_000492.3(CFTR):c.3194T>G (p.Leu1065Arg) rs121909036
NM_000492.3(CFTR):c.3196C>A (p.Arg1066Ser) rs78194216
NM_000492.3(CFTR):c.3197G>T (p.Arg1066Leu) rs121909019
NM_000492.3(CFTR):c.319_326del (p.Ile106_Ala107insTer) rs397508516
NM_000492.3(CFTR):c.3209G>C (p.Arg1070Pro) rs78769542
NM_000492.3(CFTR):c.3227_3228CT[1] (p.Leu1077fs) rs397508518
NM_000492.3(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.3(CFTR):c.3241G>C (p.Ala1081Pro) rs397508521
NM_000492.3(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.3(CFTR):c.3263dup (p.Asn1088fs) rs397508524
NM_000492.3(CFTR):c.3264del (p.Trp1089fs) rs397508525
NM_000492.3(CFTR):c.3278T>C (p.Leu1093Pro) rs397508527
NM_000492.3(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.3(CFTR):c.3281_3367+268del355insTGTTAA rs1554392248
NM_000492.3(CFTR):c.328del (p.Asp110fs) rs397508530
NM_000492.3(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.3(CFTR):c.3294G>C (p.Trp1098Cys) rs397508533
NM_000492.3(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.3(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.3(CFTR):c.3314T>G (p.Met1105Arg) rs397508539
NM_000492.3(CFTR):c.3315del (p.Met1105fs) rs397508540
NM_000492.3(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.3(CFTR):c.3322G>C (p.Val1108Leu) rs397508542
NM_000492.3(CFTR):c.3353C>G (p.Ser1118Cys) rs146521846
NM_000492.3(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000492.3(CFTR):c.3367+6A>G rs397508545
NM_000492.3(CFTR):c.3367G>C (p.Gly1123Arg) rs397508546
NM_000492.3(CFTR):c.3371_3373del (p.Glu1124del) rs397508548
NM_000492.3(CFTR):c.3389G>C (p.Gly1130Ala) rs397508550
NM_000492.3(CFTR):c.3409A>G (p.Met1137Val) rs397508553
NM_000492.3(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.3(CFTR):c.3419T>A (p.Met1140Lys) rs397508558
NM_000492.3(CFTR):c.3419_3421del (p.Met1140del) rs397508557
NM_000492.3(CFTR):c.342_344GGA[1] (p.Glu116del) rs397508563
NM_000492.3(CFTR):c.3435G>A (p.Trp1145Ter) rs397508561
NM_000492.3(CFTR):c.3439G>A (p.Val1147Ile) rs397508562
NM_000492.3(CFTR):c.3458T>A (p.Val1153Glu) rs397508567
NM_000492.3(CFTR):c.3461A>G (p.Asp1154Gly) rs397508569
NM_000492.3(CFTR):c.3469-2A>G rs397508570
NM_000492.3(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.3(CFTR):c.3476C>T (p.Ser1159Phe) rs397508573
NM_000492.3(CFTR):c.3481A>C (p.Ser1161Arg) rs397508574
NM_000492.3(CFTR):c.3486_3487del (p.Val1163fs) rs397508575
NM_000492.3(CFTR):c.3497T>G (p.Phe1166Cys) rs397508577
NM_000492.3(CFTR):c.350G>C (p.Arg117Pro) rs78655421
NM_000492.3(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.3(CFTR):c.3529A>T (p.Lys1177Ter) rs397508578
NM_000492.3(CFTR):c.3530del (p.Lys1177fs) rs397508579
NM_000492.3(CFTR):c.358G>A (p.Ala120Thr) rs201958172
NM_000492.3(CFTR):c.3592del (p.His1197_Val1198insTer) rs397508585
NM_000492.3(CFTR):c.3600A>G (p.Lys1200=) rs397508586
NM_000492.3(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.3(CFTR):c.3618_3619del (p.Gly1208fs) rs397508589
NM_000492.3(CFTR):c.364T>C (p.Tyr122His) rs397508592
NM_000492.3(CFTR):c.3680T>C (p.Leu1227Ser) rs397508593
NM_000492.3(CFTR):c.3717+45G>A rs145743767
NM_000492.3(CFTR):c.3717G>A (p.Arg1239=) rs144781064
NM_000492.3(CFTR):c.3718-24_3873+601del781 rs1554395323
NM_000492.3(CFTR):c.3719T>G (p.Val1240Gly) rs397508598
NM_000492.3(CFTR):c.3731G>T (p.Gly1244Val) rs267606723
NM_000492.3(CFTR):c.3745G>A (p.Gly1249Arg) rs397508602
NM_000492.3(CFTR):c.3754A>C (p.Thr1252Pro) rs397508603
NM_000492.3(CFTR):c.3764C>T (p.Ser1255Leu) rs76649725
NM_000492.3(CFTR):c.376G>A (p.Gly126Ser) rs397508606
NM_000492.3(CFTR):c.3777_3779ACT[1] (p.Leu1261del) rs397508610
NM_000492.3(CFTR):c.377G>A (p.Gly126Asp) rs397508609
NM_000492.3(CFTR):c.380T>G (p.Leu127Ter) rs397508611
NM_000492.3(CFTR):c.3812_3813GT[2] (p.Ser1273fs) rs397508612
NM_000492.3(CFTR):c.3822G>A (p.Trp1274Ter) rs397508613
NM_000492.3(CFTR):c.3829del (p.Ser1276_Ile1277insTer) rs397508614
NM_000492.3(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.3(CFTR):c.3844T>C (p.Trp1282Arg) rs397508616
NM_000492.3(CFTR):c.3844T>G (p.Trp1282Gly) rs397508616
NM_000492.3(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.3(CFTR):c.3855del (p.Phe1286fs) rs397508618
NM_000492.3(CFTR):c.3868C>T (p.Pro1290Ser) rs397508619
NM_000492.3(CFTR):c.3871C>T (p.Gln1291Ter) rs397508620
NM_000492.3(CFTR):c.3873+33A>G rs397508622
NM_000492.3(CFTR):c.3874-1G>A rs397508624
NM_000492.3(CFTR):c.387del (p.Leu130fs) rs397508627
NM_000492.3(CFTR):c.3891dup (p.Gly1298fs) rs397508633
NM_000492.3(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.3908A>T (p.Asn1303Ile) rs397508636
NM_000492.3(CFTR):c.3908dup (p.Asn1303fs) rs397508637
NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486
NM_000492.3(CFTR):c.3915T>A (p.Asp1305Glu) rs397508640
NM_000492.3(CFTR):c.3918C>T (p.Pro1306=) rs1800132
NM_000492.3(CFTR):c.3920A>G (p.Tyr1307Cys) rs397508641
NM_000492.3(CFTR):c.3921T>A (p.Tyr1307Ter) rs397508642
NM_000492.3(CFTR):c.3922G>T (p.Glu1308Ter) rs397508643
NM_000492.3(CFTR):c.393del (p.Phe131fs) rs397508647
NM_000492.3(CFTR):c.3963+2T>A rs397508650
NM_000492.3(CFTR):c.3964-28G>A rs397508651
NM_000492.3(CFTR):c.3964-3C>G rs397508652
NM_000492.3(CFTR):c.3971T>C (p.Leu1324Pro) rs397508653
NM_000492.3(CFTR):c.3976del (p.Ser1326fs) rs397508654
NM_000492.3(CFTR):c.3982_3984delinsTT (p.Ile1328fs) rs397508655
NM_000492.3(CFTR):c.3985G>C (p.Glu1329Gln) rs397508656
NM_000492.3(CFTR):c.3G>T (p.Met1Ile) rs397508657
NM_000492.3(CFTR):c.4003C>T (p.Leu1335Phe) rs145545286
NM_000492.3(CFTR):c.4009T>G (p.Phe1337Val) rs397508659
NM_000492.3(CFTR):c.4015C>T (p.Leu1339Phe) rs397508660
NM_000492.3(CFTR):c.4025_4028dup (p.Cys1344fs) rs397508661
NM_000492.3(CFTR):c.4040_4041del (p.Ser1347fs) rs397508664
NM_000492.3(CFTR):c.4042del (p.His1348fs) rs397508665
NM_000492.3(CFTR):c.4051A>G (p.Lys1351Glu) rs397508666
NM_000492.3(CFTR):c.4091C>T (p.Ala1364Val) rs397508670
NM_000492.3(CFTR):c.409_412del (p.Leu137fs) rs397508671
NM_000492.3(CFTR):c.410T>A (p.Leu137His) rs397508674
NM_000492.3(CFTR):c.4136+2T>G rs1562928998
NM_000492.3(CFTR):c.4139del (p.Thr1380fs) rs397508680
NM_000492.3(CFTR):c.413_415dup (p.Leu138dup) rs397508686
NM_000492.3(CFTR):c.4141T>C (p.Tyr1381His) rs397508682
NM_000492.3(CFTR):c.4143C>A (p.Tyr1381Ter) rs397508683
NM_000492.3(CFTR):c.4163T>A (p.Leu1388Gln) rs397508688
NM_000492.3(CFTR):c.416A>G (p.His139Arg) rs76371115
NM_000492.3(CFTR):c.416A>T (p.His139Leu) rs76371115
NM_000492.3(CFTR):c.4190T>A (p.Val1397Glu) rs397508691
NM_000492.3(CFTR):c.4201G>A (p.Glu1401Lys) rs397508696
NM_000492.3(CFTR):c.4201G>T (p.Glu1401Ter) rs397508696
NM_000492.3(CFTR):c.4202A>G (p.Glu1401Gly) rs397508697
NM_000492.3(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699
NM_000492.3(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.3(CFTR):c.4241T>C (p.Leu1414Ser) rs397508703
NM_000492.3(CFTR):c.4242+1G>A rs372227120
NM_000492.3(CFTR):c.42del (p.Lys14fs) rs397508710
NM_000492.3(CFTR):c.4312C>T (p.Arg1438Trp) rs397508711
NM_000492.3(CFTR):c.43del (p.Leu15fs) rs397508715
NM_000492.3(CFTR):c.4417G>T (p.Glu1473Ter) rs397508716
NM_000492.3(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.3(CFTR):c.445G>A (p.Gly149Arg) rs397508718
NM_000492.3(CFTR):c.451C>T (p.Gln151Ter) rs397508720
NM_000492.3(CFTR):c.454A>G (p.Met152Val) rs397508721
NM_000492.3(CFTR):c.455T>G (p.Met152Arg) rs397508722
NM_000492.3(CFTR):c.463G>C (p.Ala155Pro) rs397508723
NM_000492.3(CFTR):c.473G>C (p.Ser158Thr) rs397508725
NM_000492.3(CFTR):c.481T>A (p.Tyr161Asn) rs397508729
NM_000492.3(CFTR):c.481T>G (p.Tyr161Asp) rs397508729
NM_000492.3(CFTR):c.482A>G (p.Tyr161Cys) rs397508730
NM_000492.3(CFTR):c.489+2T>C rs397508732
NM_000492.3(CFTR):c.489+2T>G rs397508732
NM_000492.3(CFTR):c.489G>A (p.Lys163=) rs397508733
NM_000492.3(CFTR):c.490-2A>G rs397508735
NM_000492.3(CFTR):c.494T>C (p.Leu165Ser) rs397508736
NM_000492.3(CFTR):c.494del (p.Thr164_Leu165insTer) rs397508737
NM_000492.3(CFTR):c.496A>G (p.Lys166Glu) rs397508738
NM_000492.3(CFTR):c.4C>T (p.Gln2Ter) rs397508740
NM_000492.3(CFTR):c.4_53+69del119ins299
NM_000492.3(CFTR):c.500T>G (p.Leu167Arg) rs397508741
NM_000492.3(CFTR):c.50dup (p.Ser18fs) rs397508714
NM_000492.3(CFTR):c.522_526del (p.Ile175fs) rs397508743
NM_000492.3(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.3(CFTR):c.535C>A (p.Gln179Lys) rs367850319
NM_000492.3(CFTR):c.54-1161_164+1603del2875
NM_000492.3(CFTR):c.54-13C>G rs397508749
NM_000492.3(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000492.3(CFTR):c.550del (p.Leu184fs) rs397508752
NM_000492.3(CFTR):c.561C>A (p.Asn187Lys) rs397508754
NM_000492.3(CFTR):c.567C>A (p.Asn189Lys) rs397508755
NM_000492.3(CFTR):c.574G>A (p.Asp192Asn) rs397508756
NM_000492.3(CFTR):c.575A>G (p.Asp192Gly) rs397508758
NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.3(CFTR):c.579+3A>T rs397508761
NM_000492.3(CFTR):c.57G>T (p.Trp19Cys) rs397508762
NM_000492.3(CFTR):c.596A>G (p.His199Arg) rs397508764
NM_000492.3(CFTR):c.597T>G (p.His199Gln) rs397508765
NM_000492.3(CFTR):c.606G>A (p.Trp202Ter) rs397508768
NM_000492.3(CFTR):c.609C>G (p.Ile203Met) rs1800081
NM_000492.3(CFTR):c.618G>T (p.Leu206Phe) rs397508770
NM_000492.3(CFTR):c.625G>T (p.Ala209Ser) rs397508772
NM_000492.3(CFTR):c.627A>G (p.Ala209=) rs397508773
NM_000492.3(CFTR):c.642_643insT (p.Ile215fs) rs397508774
NM_000492.3(CFTR):c.647G>A (p.Trp216Ter) rs397508775
NM_000492.3(CFTR):c.653T>A (p.Leu218Ter) rs397508777
NM_000492.3(CFTR):c.673T>C (p.Cys225Arg) rs397508780
NM_000492.3(CFTR):c.675T>A (p.Cys225Ter) rs397508781
NM_000492.3(CFTR):c.709C>G (p.Gln237Glu) rs397508784
NM_000492.3(CFTR):c.714del (p.Gly239_Leu240insTer) rs397508787
NM_000492.3(CFTR):c.715G>A (p.Gly239Arg) rs397508788
NM_000492.3(CFTR):c.721G>A (p.Gly241Arg) rs397508789
NM_000492.3(CFTR):c.731T>A (p.Met244Lys) rs397508790
NM_000492.3(CFTR):c.741C>G (p.Tyr247Ter) rs1800082
NM_000492.3(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.3(CFTR):c.773del (p.Arg258fs) rs397508794
NM_000492.3(CFTR):c.79G>A (p.Gly27Arg) rs397508796
NM_000492.3(CFTR):c.80G>A (p.Gly27Glu) rs397508797
NM_000492.3(CFTR):c.80del (p.Gly27fs) rs397508798
NM_000492.3(CFTR):c.829T>A (p.Trp277Arg) rs397508800
NM_000492.3(CFTR):c.833_835AAG[1] (p.Glu279del) rs397508801
NM_000492.3(CFTR):c.842T>C (p.Met281Thr) rs397508802
NM_000492.3(CFTR):c.859A>T (p.Asn287Tyr) rs397508804
NM_000492.3(CFTR):c.861C>G (p.Asn287Lys) rs112162204
NM_000492.3(CFTR):c.870-1113_870-1110delGAAT rs397508809
NM_000492.3(CFTR):c.870-3T>G rs397508810
NM_000492.3(CFTR):c.874G>A (p.Glu292Lys) rs397508811
NM_000492.3(CFTR):c.877C>A (p.Leu293Met) rs397508812
NM_000492.3(CFTR):c.881_882del (p.Lys294fs) rs397508813
NM_000492.3(CFTR):c.889C>T (p.Arg297Trp) rs397508814
NM_000492.3(CFTR):c.88C>T (p.Gln30Ter) rs397508815
NM_000492.3(CFTR):c.913T>G (p.Phe305Val) rs201885470
NM_000492.3(CFTR):c.920G>A (p.Ser307Asn) rs397508817
NM_000492.3(CFTR):c.926C>G (p.Ala309Gly) rs397508818
NM_000492.3(CFTR):c.92G>T (p.Arg31Leu) rs149353983
NM_000492.3(CFTR):c.940G>C (p.Gly314Arg) rs397508819
NM_000492.3(CFTR):c.941G>A (p.Gly314Glu) rs75763344
NM_000492.3(CFTR):c.980del (p.Leu327fs) rs397508823
NM_000495.4(COL4A5):c.1032+3_1032+6delAAGT 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.5160+2_5160+3delTG rs137854036
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.4989+1delG rs137854005
NM_000548.4(TSC2):c.4989+1dupG rs137854005
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