ClinVar Miner

List of variants in gene TSC1 reported by Ambry Genetics

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1500
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000368.5(TSC1):c.876C>T (p.Val292=) rs116756594 0.00104
NM_000368.5(TSC1):c.552G>C (p.Val184=) rs118203397 0.00079
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln) rs118203543 0.00070
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro) rs377598226 0.00041
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000368.5(TSC1):c.1773G>A (p.Pro591=) rs146578402 0.00040
NM_000368.5(TSC1):c.2505C>T (p.Leu835=) rs112384441 0.00039
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000368.5(TSC1):c.2626-4T>C rs777386691 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp) rs118203723 0.00025
NM_000368.5(TSC1):c.810A>G (p.Ser270=) rs142336706 0.00025
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp) rs118203483 0.00022
NM_000368.5(TSC1):c.1677C>T (p.Cys559=) rs368317116 0.00021
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val) rs397514880 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000368.5(TSC1):c.201A>G (p.Pro67=) rs371555137 0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_000368.5(TSC1):c.2209-3T>C rs368309229 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000368.5(TSC1):c.249C>T (p.Ala83=) rs145783693 0.00013
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164 0.00013
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000368.5(TSC1):c.2647G>A (p.Ala883Thr) rs118203721 0.00012
NM_000368.5(TSC1):c.467A>C (p.Asp156Ala) rs893232039 0.00012
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00011
NM_000368.5(TSC1):c.2425G>C (p.Glu809Gln) rs118203692 0.00011
NM_000368.5(TSC1):c.2423C>T (p.Ala808Val) rs756514375 0.00010
NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779 0.00010
NM_000368.5(TSC1):c.3303G>A (p.Glu1101=) rs118203751 0.00010
NM_000368.5(TSC1):c.1333+5A>G rs118203515 0.00009
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557 0.00008
NM_000368.5(TSC1):c.1567G>C (p.Ala523Pro) rs118203548 0.00008
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) rs549467159 0.00008
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser) rs537585211 0.00008
NM_000368.5(TSC1):c.851G>A (p.Arg284His) rs151309813 0.00008
NM_000368.5(TSC1):c.1051A>G (p.Met351Val) rs781312535 0.00007
NM_000368.5(TSC1):c.1302A>G (p.Arg434=) rs907840461 0.00007
NM_000368.5(TSC1):c.3387C>T (p.Ala1129=) rs200200869 0.00007
NM_000368.5(TSC1):c.1047A>G (p.Pro349=) rs118203492 0.00006
NM_000368.5(TSC1):c.1178C>T (p.Thr393Ile) rs201452238 0.00006
NM_000368.5(TSC1):c.1209G>A (p.Ser403=) rs141184479 0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu) rs751247705 0.00006
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839 0.00006
NM_000368.5(TSC1):c.513C>T (p.His171=) rs377196837 0.00006
NM_000368.5(TSC1):c.625A>G (p.Met209Val) rs754980229 0.00006
NM_000368.5(TSC1):c.1110A>T (p.Ser370=) rs371648887 0.00005
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val) rs372583166 0.00005
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000368.5(TSC1):c.231C>T (p.Asn77=) rs397514809 0.00005
NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln) rs200514807 0.00005
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) rs76801599 0.00005
NM_000368.5(TSC1):c.3210G>A (p.Ala1070=) rs201165286 0.00005
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu) rs751126355 0.00005
NM_000368.5(TSC1):c.402G>A (p.Leu134=) rs147125501 0.00005
NM_000368.5(TSC1):c.479G>A (p.Arg160His) rs749979841 0.00005
NM_000368.5(TSC1):c.618T>C (p.His206=) rs118203415 0.00005
NM_000368.5(TSC1):c.73G>A (p.Val25Met) rs1230244328 0.00005
NM_000368.5(TSC1):c.853T>G (p.Phe285Val) rs377076733 0.00005
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg) rs375144225 0.00005
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp) rs535868591 0.00005
NM_000368.5(TSC1):c.110G>A (p.Arg37His) rs750441497 0.00004
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe) rs1461609607 0.00004
NM_000368.5(TSC1):c.1332A>G (p.Ser444=) rs773003016 0.00004
NM_000368.5(TSC1):c.1506C>T (p.Gly502=) rs772337076 0.00004
NM_000368.5(TSC1):c.1884A>G (p.Leu628=) rs1038140620 0.00004
NM_000368.5(TSC1):c.1885A>C (p.Lys629Gln) rs865941509 0.00004
NM_000368.5(TSC1):c.1974C>T (p.Asp658=) rs118203608 0.00004
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val) rs118203609 0.00004
NM_000368.5(TSC1):c.2325C>T (p.Leu775=) rs1005558276 0.00004
NM_000368.5(TSC1):c.2478G>C (p.Leu826=) rs149719514 0.00004
NM_000368.5(TSC1):c.2922C>T (p.Leu974=) rs769389702 0.00004
NM_000368.5(TSC1):c.3045C>T (p.Asn1015=) rs759047948 0.00004
NM_000368.5(TSC1):c.3402C>T (p.Asn1134=) rs769266225 0.00004
NM_000368.5(TSC1):c.912T>C (p.Tyr304=) rs118203466 0.00004
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln) rs397514808 0.00003
NM_000368.5(TSC1):c.1113C>T (p.His371=) rs771217333 0.00003
NM_000368.5(TSC1):c.114C>G (p.Gly38=) rs776158461 0.00003
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) rs397514840 0.00003
NM_000368.5(TSC1):c.1317G>C (p.Leu439=) rs770692313 0.00003
NM_000368.5(TSC1):c.1344T>G (p.Pro448=) rs530908428 0.00003
NM_000368.5(TSC1):c.1439-4T>C rs762473323 0.00003
NM_000368.5(TSC1):c.1585G>A (p.Ala529Thr) rs751125011 0.00003
NM_000368.5(TSC1):c.1721C>G (p.Thr574Ser) rs548002938 0.00003
NM_000368.5(TSC1):c.1878G>A (p.Glu626=) rs753424167 0.00003
NM_000368.5(TSC1):c.1888A>C (p.Lys630Gln) rs1158059433 0.00003
NM_000368.5(TSC1):c.1922C>A (p.Pro641His) rs397514863 0.00003
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly) rs939275328 0.00003
NM_000368.5(TSC1):c.2677A>C (p.Ser893Arg) rs1396314595 0.00003
NM_000368.5(TSC1):c.2700G>A (p.Gln900=) rs560986491 0.00003
NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg) rs1433723046 0.00003
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys) rs200398750 0.00003
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val) rs202121327 0.00003
NM_000368.5(TSC1):c.3112A>G (p.Ser1038Gly) rs768443391 0.00003
NM_000368.5(TSC1):c.3129C>T (p.Ser1043=) rs201192125 0.00003
NM_000368.5(TSC1):c.3249T>C (p.Ser1083=) rs761673589 0.00003
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031 0.00003
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly) rs768624733 0.00003
NM_000368.5(TSC1):c.348A>C (p.Leu116Phe) rs755799702 0.00003
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr) rs1007335343 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000368.5(TSC1):c.65G>A (p.Arg22Gln) rs141736779 0.00003
NM_000368.5(TSC1):c.734G>A (p.Arg245Gln) rs755859330 0.00003
NM_000368.5(TSC1):c.798C>T (p.Pro266=) rs770704462 0.00003
NM_000368.5(TSC1):c.840A>G (p.Gln280=) rs1171852730 0.00003
NM_000368.5(TSC1):c.850C>T (p.Arg284Cys) rs140544652 0.00003
NM_000368.5(TSC1):c.87T>C (p.Phe29=) rs745384145 0.00003
NM_000368.5(TSC1):c.932C>G (p.Pro311Arg) rs776158460 0.00003
NM_000368.5(TSC1):c.941C>T (p.Thr314Met) rs373454700 0.00003
NM_000368.5(TSC1):c.942G>A (p.Thr314=) rs144208203 0.00003
NM_000368.5(TSC1):c.1020A>G (p.Glu340=) rs760233114 0.00002
NM_000368.5(TSC1):c.111T>C (p.Arg37=) rs966292723 0.00002
NM_000368.5(TSC1):c.1224C>T (p.His408=) rs781006583 0.00002
NM_000368.5(TSC1):c.1251A>G (p.Thr417=) rs147127442 0.00002
NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg) rs878853959 0.00002
NM_000368.5(TSC1):c.126A>C (p.Val42=) rs118203335 0.00002
NM_000368.5(TSC1):c.1273A>G (p.Met425Val) rs753199284 0.00002
NM_000368.5(TSC1):c.1290A>G (p.Pro430=) rs759914505 0.00002
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val) rs1489175329 0.00002
NM_000368.5(TSC1):c.1528G>A (p.Asp510Asn) rs779206386 0.00002
NM_000368.5(TSC1):c.1584C>T (p.Gly528=) rs149439187 0.00002
NM_000368.5(TSC1):c.1636G>T (p.Asp546Tyr) rs774671298 0.00002
NM_000368.5(TSC1):c.1678G>A (p.Gly560Ser) rs746304922 0.00002
NM_000368.5(TSC1):c.167C>T (p.Pro56Leu) rs750512029 0.00002
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly) rs377185303 0.00002
NM_000368.5(TSC1):c.1738A>G (p.Ile580Val) rs1179358967 0.00002
NM_000368.5(TSC1):c.1809G>T (p.Pro603=) rs112434645 0.00002
NM_000368.5(TSC1):c.1848C>T (p.Ala616=) rs752286096 0.00002
NM_000368.5(TSC1):c.1881G>A (p.Leu627=) rs766204646 0.00002
NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile) rs779584449 0.00002
NM_000368.5(TSC1):c.2034C>T (p.His678=) rs201392975 0.00002
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys) rs202241429 0.00002
NM_000368.5(TSC1):c.2077G>C (p.Asp693His) rs397514800 0.00002
NM_000368.5(TSC1):c.210+5T>C rs753035149 0.00002
NM_000368.5(TSC1):c.2115G>A (p.Glu705=) rs142662480 0.00002
NM_000368.5(TSC1):c.2303G>A (p.Arg768His) rs1033725987 0.00002
NM_000368.5(TSC1):c.2322G>A (p.Lys774=) rs772038670 0.00002
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe) rs868755168 0.00002
NM_000368.5(TSC1):c.2424G>A (p.Ala808=) rs200651872 0.00002
NM_000368.5(TSC1):c.2542T>C (p.Leu848=) rs780394011 0.00002
NM_000368.5(TSC1):c.270C>T (p.Leu90=) rs142325036 0.00002
NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu) rs397514879 0.00002
NM_000368.5(TSC1):c.2882A>G (p.Glu961Gly) rs760762170 0.00002
NM_000368.5(TSC1):c.2901C>T (p.Gly967=) rs774634388 0.00002
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=) rs765753157 0.00002
NM_000368.5(TSC1):c.3080G>A (p.Arg1027Gln) rs796053461 0.00002
NM_000368.5(TSC1):c.3172C>A (p.Pro1058Thr) rs112066743 0.00002
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=) rs118203746 0.00002
NM_000368.5(TSC1):c.3237C>T (p.Gly1079=) rs749995749 0.00002
NM_000368.5(TSC1):c.3253A>G (p.Lys1085Glu) rs1442514678 0.00002
NM_000368.5(TSC1):c.3266G>C (p.Gly1089Ala) rs762845573 0.00002
NM_000368.5(TSC1):c.3364G>A (p.Gly1122Ser) rs760918561 0.00002
NM_000368.5(TSC1):c.3396C>T (p.Pro1132=) rs774980129 0.00002
NM_000368.5(TSC1):c.3397C>T (p.Leu1133=) rs1244090738 0.00002
NM_000368.5(TSC1):c.340C>T (p.Pro114Ser) rs779395169 0.00002
NM_000368.5(TSC1):c.370A>G (p.Thr124Ala) rs745871522 0.00002
NM_000368.5(TSC1):c.375C>T (p.Asp125=) rs560863078 0.00002
NM_000368.5(TSC1):c.379G>A (p.Val127Ile) rs372215435 0.00002
NM_000368.5(TSC1):c.389C>T (p.Thr130Ile) rs779340088 0.00002
NM_000368.5(TSC1):c.531C>T (p.Leu177=) rs752615412 0.00002
NM_000368.5(TSC1):c.542A>T (p.His181Leu) rs397515294 0.00002
NM_000368.5(TSC1):c.569G>A (p.Arg190His) rs118203402 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 0.00002
NM_000368.5(TSC1):c.69C>T (p.Asp23=) rs769282604 0.00002
NM_000368.5(TSC1):c.720T>G (p.His240Gln) rs779872953 0.00002
NM_000368.5(TSC1):c.89A>G (p.Lys30Arg) rs796053452 0.00002
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr) rs752290177 0.00002
NM_000368.5(TSC1):c.930C>T (p.Thr310=) rs759004332 0.00002
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00002
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) rs200820603 0.00001
NM_000368.5(TSC1):c.1038T>C (p.Leu346=) rs753360364 0.00001
NM_000368.5(TSC1):c.1050T>C (p.Ser350=) rs150777389 0.00001
NM_000368.5(TSC1):c.1059T>C (p.Cys353=) rs1216537041 0.00001
NM_000368.5(TSC1):c.106+4A>G rs373075566 0.00001
NM_000368.5(TSC1):c.1078A>C (p.Thr360Pro) rs201738258 0.00001
NM_000368.5(TSC1):c.1078A>G (p.Thr360Ala) rs201738258 0.00001
NM_000368.5(TSC1):c.1084C>T (p.Pro362Ser) rs397514864 0.00001
NM_000368.5(TSC1):c.1091A>T (p.Asn364Ile) rs876658981 0.00001
NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu) rs763915012 0.00001
NM_000368.5(TSC1):c.1099C>G (p.Pro367Ala) rs1412914051 0.00001
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys) rs1309560054 0.00001
NM_000368.5(TSC1):c.1105C>A (p.Leu369Met) rs118203496 0.00001
NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala) rs760638759 0.00001
NM_000368.5(TSC1):c.1116T>C (p.Pro372=) rs1311647964 0.00001
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512 0.00001
NM_000368.5(TSC1):c.1166G>A (p.Gly389Glu) rs752575728 0.00001
NM_000368.5(TSC1):c.1190C>T (p.Pro397Leu) rs766487204 0.00001
NM_000368.5(TSC1):c.1191A>G (p.Pro397=) rs370281825 0.00001
NM_000368.5(TSC1):c.1193C>T (p.Ala398Val) rs918660416 0.00001
NM_000368.5(TSC1):c.1200C>G (p.Leu400=) rs767514820 0.00001
NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys) rs143502728 0.00001
NM_000368.5(TSC1):c.1219G>A (p.Val407Met) rs769331772 0.00001
NM_000368.5(TSC1):c.121C>T (p.Leu41Phe) rs118203334 0.00001
NM_000368.5(TSC1):c.1233C>T (p.Leu411=) rs1588321365 0.00001
NM_000368.5(TSC1):c.1237C>G (p.Gln413Glu) rs1588321339 0.00001
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg) rs1060503218 0.00001
NM_000368.5(TSC1):c.1244C>T (p.Thr415Ile) rs746550630 0.00001
NM_000368.5(TSC1):c.1248C>T (p.Val416=) rs777823426 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000368.5(TSC1):c.1257C>G (p.Pro419=) rs369642207 0.00001
NM_000368.5(TSC1):c.1263+5G>A rs767745683 0.00001
NM_000368.5(TSC1):c.1269G>C (p.Glu423Asp) rs1272450087 0.00001
NM_000368.5(TSC1):c.1282G>C (p.Ala428Pro) rs1845728007 0.00001
NM_000368.5(TSC1):c.1283C>T (p.Ala428Val) rs1554816420 0.00001
NM_000368.5(TSC1):c.1305A>G (p.Gln435=) rs1334781311 0.00001
NM_000368.5(TSC1):c.130A>G (p.Thr44Ala) rs1399266964 0.00001
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) rs199800297 0.00001
NM_000368.5(TSC1):c.133T>C (p.Leu45=) rs755226092 0.00001
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala) rs371093730 0.00001
NM_000368.5(TSC1):c.135G>A (p.Leu45=) rs149278759 0.00001
NM_000368.5(TSC1):c.1369A>C (p.Ser457Arg) rs587778722 0.00001
NM_000368.5(TSC1):c.1418T>C (p.Ile473Thr) rs185159716 0.00001
NM_000368.5(TSC1):c.153A>C (p.Glu51Asp) rs118203342 0.00001
NM_000368.5(TSC1):c.1550G>A (p.Arg517Gln) rs371908551 0.00001
NM_000368.5(TSC1):c.1562C>T (p.Ser521Leu) rs759379027 0.00001
NM_000368.5(TSC1):c.1564G>C (p.Ala522Pro) rs1461138345 0.00001
NM_000368.5(TSC1):c.1571C>T (p.Ser524Phe) rs1276296733 0.00001
NM_000368.5(TSC1):c.1574G>C (p.Ser525Thr) rs750784794 0.00001
NM_000368.5(TSC1):c.1580A>G (p.Gln527Arg) rs767708806 0.00001
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr) rs368481360 0.00001
NM_000368.5(TSC1):c.1590C>T (p.Ser530=) rs762424091 0.00001
NM_000368.5(TSC1):c.1591G>A (p.Val531Met) rs377279170 0.00001
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr) rs765149885 0.00001
NM_000368.5(TSC1):c.1596C>T (p.Asn532=) rs759461471 0.00001
NM_000368.5(TSC1):c.1602G>T (p.Glu534Asp) rs1419023919 0.00001
NM_000368.5(TSC1):c.1626G>A (p.Lys542=) rs756935981 0.00001
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu) rs770570830 0.00001
NM_000368.5(TSC1):c.1643C>T (p.Pro548Leu) rs1588310178 0.00001
NM_000368.5(TSC1):c.166C>T (p.Pro56Ser) rs1330089369 0.00001
NM_000368.5(TSC1):c.1674C>T (p.Pro558=) rs878853962 0.00001
NM_000368.5(TSC1):c.168G>A (p.Pro56=) rs781483110 0.00001
NM_000368.5(TSC1):c.1716C>T (p.Cys572=) rs752202276 0.00001
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623 0.00001
NM_000368.5(TSC1):c.1754C>T (p.Pro585Leu) rs1845627444 0.00001
NM_000368.5(TSC1):c.1772C>T (p.Pro591Leu) rs768985094 0.00001
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met) rs775869914 0.00001
NM_000368.5(TSC1):c.1776G>A (p.Thr592=) rs118203580 0.00001
NM_000368.5(TSC1):c.1779A>G (p.Arg593=) rs964191879 0.00001
NM_000368.5(TSC1):c.177C>T (p.His59=) rs767647768 0.00001
NM_000368.5(TSC1):c.1794C>T (p.Ser598=) rs766438395 0.00001
NM_000368.5(TSC1):c.1795G>A (p.Gly599Arg) rs761959210 0.00001
NM_000368.5(TSC1):c.1800G>C (p.Gln600His) rs1254353359 0.00001
NM_000368.5(TSC1):c.1809G>A (p.Pro603=) rs112434645 0.00001
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817 0.00001
NM_000368.5(TSC1):c.1818T>A (p.His606Gln) rs758769193 0.00001
NM_000368.5(TSC1):c.181C>T (p.Leu61=) rs752047592 0.00001
NM_000368.5(TSC1):c.1869G>A (p.Lys623=) rs778556382 0.00001
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile) rs754401816 0.00001
NM_000368.5(TSC1):c.1882T>C (p.Leu628=) rs375534013 0.00001
NM_000368.5(TSC1):c.1890A>G (p.Lys630=) rs1370477883 0.00001
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala) rs1485955306 0.00001
NM_000368.5(TSC1):c.1943T>C (p.Val648Ala) rs771341361 0.00001
NM_000368.5(TSC1):c.1954C>T (p.Leu652=) rs747452647 0.00001
NM_000368.5(TSC1):c.195A>G (p.Gln65=) rs764523181 0.00001
NM_000368.5(TSC1):c.1975G>A (p.Ala659Thr) rs914628341 0.00001
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg) rs1419720341 0.00001
NM_000368.5(TSC1):c.2003C>T (p.Pro668Leu) rs772603060 0.00001
NM_000368.5(TSC1):c.2018C>A (p.Ser673Tyr) rs774835995 0.00001
NM_000368.5(TSC1):c.2023G>C (p.Asp675His) rs768189353 0.00001
NM_000368.5(TSC1):c.2026T>A (p.Trp676Arg) rs748901883 0.00001
NM_000368.5(TSC1):c.2032C>T (p.His678Tyr) rs755647717 0.00001
NM_000368.5(TSC1):c.2033A>T (p.His678Leu) rs745413532 0.00001
NM_000368.5(TSC1):c.2038G>A (p.Gly680Arg) rs757322533 0.00001
NM_000368.5(TSC1):c.2064C>T (p.Ile688=) rs878853963 0.00001
NM_000368.5(TSC1):c.2066G>A (p.Arg689His) rs200827913 0.00001
NM_000368.5(TSC1):c.2085G>A (p.Leu695=) rs767518902 0.00001
NM_000368.5(TSC1):c.2109C>T (p.Leu703=) rs1440846632 0.00001
NM_000368.5(TSC1):c.213C>A (p.His71Gln) rs765578482 0.00001
NM_000368.5(TSC1):c.2145G>C (p.Arg715=) rs1379334013 0.00001
NM_000368.5(TSC1):c.2172C>A (p.Ile724=) rs1845495899 0.00001
NM_000368.5(TSC1):c.2196T>C (p.His732=) rs776441369 0.00001
NM_000368.5(TSC1):c.2226A>G (p.Leu742=) rs397514878 0.00001
NM_000368.5(TSC1):c.2268A>G (p.Lys756=) rs760004541 0.00001
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His) rs776386313 0.00001
NM_000368.5(TSC1):c.2298G>C (p.Glu766Asp) rs1403227945 0.00001
NM_000368.5(TSC1):c.22G>A (p.Gly8Arg) rs773784532 0.00001
NM_000368.5(TSC1):c.2307C>T (p.Asp769=) rs876658671 0.00001
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr) rs760208449 0.00001
NM_000368.5(TSC1):c.2367C>T (p.Phe789=) rs1588301207 0.00001
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys) rs749111647 0.00001
NM_000368.5(TSC1):c.2394G>A (p.Thr798=) rs1060504860 0.00001
NM_000368.5(TSC1):c.23G>C (p.Gly8Ala) rs1269896419 0.00001
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg) rs118203699 0.00001
NM_000368.5(TSC1):c.2502+3A>G rs1349115830 0.00001
NM_000368.5(TSC1):c.2503-4T>G rs772414581 0.00001
NM_000368.5(TSC1):c.2520G>A (p.Ser840=) rs547498792 0.00001
NM_000368.5(TSC1):c.2556G>C (p.Leu852=) rs770381040 0.00001
NM_000368.5(TSC1):c.2577C>T (p.Asn859=) rs781553258 0.00001
NM_000368.5(TSC1):c.2604C>T (p.Asn868=) rs147163264 0.00001
NM_000368.5(TSC1):c.2614G>C (p.Asp872His) rs746607455 0.00001
NM_000368.5(TSC1):c.2636T>C (p.Met879Thr) rs754457018 0.00001
NM_000368.5(TSC1):c.2651A>G (p.Tyr884Cys) rs1449821288 0.00001
NM_000368.5(TSC1):c.2658A>G (p.Lys886=) rs368212910 0.00001
NM_000368.5(TSC1):c.2690A>T (p.Gln897Leu) rs772324460 0.00001
NM_000368.5(TSC1):c.2722C>T (p.Arg908Trp) rs748845915 0.00001
NM_000368.5(TSC1):c.2723G>A (p.Arg908Gln) rs780115763 0.00001
NM_000368.5(TSC1):c.2726T>C (p.Ile909Thr) rs1374339026 0.00001
NM_000368.5(TSC1):c.272C>G (p.Ser91Trp) rs118203361 0.00001
NM_000368.5(TSC1):c.2745C>T (p.His915=) rs1392904165 0.00001
NM_000368.5(TSC1):c.2766T>C (p.Leu922=) rs546119844 0.00001
NM_000368.5(TSC1):c.2766T>G (p.Leu922=) rs546119844 0.00001
NM_000368.5(TSC1):c.2781G>A (p.Lys927=) rs118203733 0.00001
NM_000368.5(TSC1):c.2796T>C (p.Asp932=) rs766871150 0.00001
NM_000368.5(TSC1):c.2803C>T (p.Leu935Phe) rs1172586020 0.00001
NM_000368.5(TSC1):c.2830G>A (p.Ala944Thr) rs751362258 0.00001
NM_000368.5(TSC1):c.2867A>G (p.Gln956Arg) rs1212768461 0.00001
NM_000368.5(TSC1):c.2878T>C (p.Leu960=) rs766383986 0.00001
NM_000368.5(TSC1):c.287T>C (p.Val96Ala) rs370243092 0.00001
NM_000368.5(TSC1):c.2893T>A (p.Leu965Ile) rs1060503217 0.00001
NM_000368.5(TSC1):c.2896T>C (p.Tyr966His) rs767946427 0.00001
NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys) rs762213436 0.00001
NM_000368.5(TSC1):c.289A>G (p.Ile97Val) rs138541569 0.00001
NM_000368.5(TSC1):c.2910G>A (p.Glu970=) rs762627301 0.00001
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) rs397514859 0.00001
NM_000368.5(TSC1):c.2933T>G (p.Leu978Arg) rs770834438 0.00001
NM_000368.5(TSC1):c.2940A>G (p.Glu980=) rs557674294 0.00001
NM_000368.5(TSC1):c.2964A>G (p.Ala988=) rs1057520482 0.00001
NM_000368.5(TSC1):c.2976-2A>G rs1588288463 0.00001
NM_000368.5(TSC1):c.2982C>T (p.Asp994=) rs199919348 0.00001
NM_000368.5(TSC1):c.2994C>T (p.Asp998=) rs923543734 0.00001
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg) rs780224196 0.00001
NM_000368.5(TSC1):c.3010A>G (p.Met1004Val) rs371879917 0.00001
NM_000368.5(TSC1):c.3011T>C (p.Met1004Thr) rs757370776 0.00001
NM_000368.5(TSC1):c.3016G>C (p.Gly1006Arg) rs1242948205 0.00001
NM_000368.5(TSC1):c.3019C>T (p.His1007Tyr) rs764738792 0.00001
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser) rs1263094349 0.00001
NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu) rs796053449 0.00001
NM_000368.5(TSC1):c.3046G>A (p.Gly1016Ser) rs1020905743 0.00001
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp) rs1313165721 0.00001
NM_000368.5(TSC1):c.305C>G (p.Ser102Cys) rs1307630727 0.00001
NM_000368.5(TSC1):c.3062C>T (p.Pro1021Leu) rs1845082733 0.00001
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp) rs375394001 0.00001
NM_000368.5(TSC1):c.3080G>T (p.Arg1027Leu) rs796053461 0.00001
NM_000368.5(TSC1):c.3092G>A (p.Gly1031Glu) rs1845079425 0.00001
NM_000368.5(TSC1):c.3101G>A (p.Gly1034Asp) rs1034398735 0.00001
NM_000368.5(TSC1):c.3115A>G (p.Ser1039Gly) rs1490199228 0.00001
NM_000368.5(TSC1):c.3120C>T (p.Ser1040=) rs1289954163 0.00001
NM_000368.5(TSC1):c.312G>T (p.Lys104Asn) rs1554820281 0.00001
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462 0.00001
NM_000368.5(TSC1):c.3135T>C (p.Leu1045=) rs1332702219 0.00001
NM_000368.5(TSC1):c.3140C>T (p.Thr1047Ile) rs587778726 0.00001
NM_000368.5(TSC1):c.3169G>A (p.Gly1057Ser) rs587778727 0.00001
NM_000368.5(TSC1):c.3177C>G (p.Phe1059Leu) rs753263747 0.00001
NM_000368.5(TSC1):c.3181A>G (p.Ser1061Gly) rs1203493016 0.00001
NM_000368.5(TSC1):c.3185G>A (p.Arg1062Gln) rs755396992 0.00001
NM_000368.5(TSC1):c.3194C>T (p.Thr1065Met) rs753388676 0.00001
NM_000368.5(TSC1):c.3200T>G (p.Met1067Arg) rs1167362899 0.00001
NM_000368.5(TSC1):c.3207A>G (p.Glu1069=) rs878853966 0.00001
NM_000368.5(TSC1):c.3228C>T (p.Thr1076=) rs140622357 0.00001
NM_000368.5(TSC1):c.3268A>G (p.Met1090Val) rs776694051 0.00001
NM_000368.5(TSC1):c.3289C>T (p.Arg1097Cys) rs779599439 0.00001
NM_000368.5(TSC1):c.3290G>A (p.Arg1097His) rs118203750 0.00001
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=) rs754282309 0.00001
NM_000368.5(TSC1):c.3305G>C (p.Ser1102Thr) rs1263464680 0.00001
NM_000368.5(TSC1):c.331C>T (p.Pro111Ser) rs748669519 0.00001
NM_000368.5(TSC1):c.3321C>T (p.Asp1107=) rs118203752 0.00001
NM_000368.5(TSC1):c.3322G>A (p.Gly1108Ser) rs118203753 0.00001
NM_000368.5(TSC1):c.3350T>C (p.Leu1117Pro) rs762641110 0.00001
NM_000368.5(TSC1):c.3356C>T (p.Thr1119Ile) rs775420987 0.00001
NM_000368.5(TSC1):c.3373T>C (p.Leu1125=) rs1157060310 0.00001
NM_000368.5(TSC1):c.3381G>A (p.Val1127=) rs773586317 0.00001
NM_000368.5(TSC1):c.3386C>T (p.Ala1129Val) rs772233665 0.00001
NM_000368.5(TSC1):c.3390G>C (p.Lys1130Asn) rs1845035929 0.00001
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser) rs1249897804 0.00001
NM_000368.5(TSC1):c.3405A>G (p.Leu1135=) rs568004490 0.00001
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082 0.00001
NM_000368.5(TSC1):c.3414T>C (p.Pro1138=) rs745475737 0.00001
NM_000368.5(TSC1):c.3416A>C (p.His1139Pro) rs764018144 0.00001
NM_000368.5(TSC1):c.3420G>A (p.Pro1140=) rs763931959 0.00001
NM_000368.5(TSC1):c.3424C>T (p.Pro1142Ser) rs1060503227 0.00001
NM_000368.5(TSC1):c.3426C>A (p.Pro1142=) rs758286878 0.00001
NM_000368.5(TSC1):c.3433C>G (p.Pro1145Ala) rs773541137 0.00001
NM_000368.5(TSC1):c.3434C>T (p.Pro1145Leu) rs767904247 0.00001
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806 0.00001
NM_000368.5(TSC1):c.3475A>T (p.Thr1159Ser) rs1216169846 0.00001
NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr) rs1470270925 0.00001
NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp) rs749746550 0.00001
NM_000368.5(TSC1):c.364A>G (p.Met122Val) rs1846685026 0.00001
NM_000368.5(TSC1):c.371C>G (p.Thr124Ser) rs747251435 0.00001
NM_000368.5(TSC1):c.376G>A (p.Val126Ile) rs397514843 0.00001
NM_000368.5(TSC1):c.378C>T (p.Val126=) rs373173550 0.00001
NM_000368.5(TSC1):c.381T>C (p.Val127=) rs1846682219 0.00001
NM_000368.5(TSC1):c.38T>C (p.Met13Thr) rs1041071543 0.00001
NM_000368.5(TSC1):c.397G>A (p.Val133Ile) rs118203381 0.00001
NM_000368.5(TSC1):c.413C>A (p.Thr138Asn) rs1163879822 0.00001
NM_000368.5(TSC1):c.418C>G (p.Leu140Val) rs1554819915 0.00001
NM_000368.5(TSC1):c.424A>G (p.Met142Val) rs1846677025 0.00001
NM_000368.5(TSC1):c.458A>G (p.Asp153Gly) rs1846674570 0.00001
NM_000368.5(TSC1):c.45C>T (p.Asp15=) rs1457262106 0.00001
NM_000368.5(TSC1):c.50C>G (p.Pro17Arg) rs1189239082 0.00001
NM_000368.5(TSC1):c.514G>A (p.Val172Met) rs952813051 0.00001
NM_000368.5(TSC1):c.518C>T (p.Ala173Val) rs777484049 0.00001
NM_000368.5(TSC1):c.51C>G (p.Pro17=) rs768175095 0.00001
NM_000368.5(TSC1):c.524T>C (p.Val175Ala) rs1415895533 0.00001
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys) rs1060503209 0.00001
NM_000368.5(TSC1):c.540C>T (p.Leu180=) rs201562103 0.00001
NM_000368.5(TSC1):c.546C>T (p.Ala182=) rs1245007527 0.00001
NM_000368.5(TSC1):c.555C>T (p.Tyr185=) rs118203398 0.00001
NM_000368.5(TSC1):c.593A>G (p.Asn198Ser) rs577983115 0.00001
NM_000368.5(TSC1):c.598G>A (p.Val200Ile) rs118203410 0.00001
NM_000368.5(TSC1):c.61G>T (p.Val21Leu) rs1392596033 0.00001
NM_000368.5(TSC1):c.622A>C (p.Ser208Arg) rs778671811 0.00001
NM_000368.5(TSC1):c.641A>G (p.Glu214Gly) rs1483354391 0.00001
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp) rs749030456 0.00001
NM_000368.5(TSC1):c.651A>G (p.Glu217=) rs766250769 0.00001
NM_000368.5(TSC1):c.657G>C (p.Val219=) rs755910789 0.00001
NM_000368.5(TSC1):c.670A>T (p.Met224Leu) rs535397245 0.00001
NM_000368.5(TSC1):c.702G>A (p.Val234=) rs1216129023 0.00001
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn) rs984306144 0.00001
NM_000368.5(TSC1):c.72C>T (p.Asp24=) rs376527838 0.00001
NM_000368.5(TSC1):c.771C>T (p.Ile257=) rs1060504854 0.00001
NM_000368.5(TSC1):c.772G>A (p.Glu258Lys) rs118203450 0.00001
NM_000368.5(TSC1):c.774G>A (p.Glu258=) rs1554817678 0.00001
NM_000368.5(TSC1):c.782A>G (p.Lys261Arg) rs371225009 0.00001
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu) rs878853968 0.00001
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu) rs148756522 0.00001
NM_000368.5(TSC1):c.830T>C (p.Val277Ala) rs200749357 0.00001
NM_000368.5(TSC1):c.862C>T (p.Arg288Cys) rs770653972 0.00001
NM_000368.5(TSC1):c.871G>A (p.Asp291Asn) rs755195460 0.00001
NM_000368.5(TSC1):c.873T>C (p.Asp291=) rs753928162 0.00001
NM_000368.5(TSC1):c.880A>G (p.Thr294Ala) rs1588326742 0.00001
NM_000368.5(TSC1):c.884G>C (p.Ser295Thr) rs1415705359 0.00001
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile) rs370916731 0.00001
NM_000368.5(TSC1):c.903G>C (p.Gln301His) rs762200890 0.00001
NM_000368.5(TSC1):c.960A>G (p.Leu320=) rs770183315 0.00001
NM_000368.5(TSC1):c.966G>A (p.Met322Ile) rs397514807 0.00001
NM_000368.5(TSC1):c.-3A>G
NM_000368.5(TSC1):c.1002G>C (p.Ser334=) rs200820603
NM_000368.5(TSC1):c.1002G>T (p.Ser334=)
NM_000368.5(TSC1):c.1005A>G (p.Thr335=) rs753091213
NM_000368.5(TSC1):c.1006C>A (p.Arg336=) rs118203483
NM_000368.5(TSC1):c.1007G>T (p.Arg336Leu)
NM_000368.5(TSC1):c.1008G>T (p.Arg336=) rs2131974677
NM_000368.5(TSC1):c.101A>G (p.Asn34Ser) rs980870206
NM_000368.5(TSC1):c.101A>T (p.Asn34Ile)
NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu) rs1588324106
NM_000368.5(TSC1):c.1024C>T (p.Pro342Ser)
NM_000368.5(TSC1):c.1025C>T (p.Pro342Leu) rs1060503197
NM_000368.5(TSC1):c.1026A>G (p.Pro342=) rs1588324071
NM_000368.5(TSC1):c.1029+3A>G rs1554817334
NM_000368.5(TSC1):c.1029+5G>A rs1845952054
NM_000368.5(TSC1):c.1030-3C>T rs118203488
NM_000368.5(TSC1):c.1030-5C>T rs1588323218
NM_000368.5(TSC1):c.1031C>A (p.Ala344Asp)
NM_000368.5(TSC1):c.1041G>A (p.Trp347Ter) rs118203491
NM_000368.5(TSC1):c.1041G>C (p.Trp347Cys) rs118203491
NM_000368.5(TSC1):c.1054G>A (p.Val352Ile) rs796053447
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr) rs876660024
NM_000368.5(TSC1):c.1059_1060insTAC (p.Cys353_Gly354insTyr) rs2131962787
NM_000368.5(TSC1):c.106+5G>A rs1554820973
NM_000368.5(TSC1):c.1060G>A (p.Gly354Ser)
NM_000368.5(TSC1):c.1061G>A (p.Gly354Asp)
NM_000368.5(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.5(TSC1):c.1065G>T (p.Met355Ile)
NM_000368.5(TSC1):c.1067C>A (p.Thr356Asn) rs1845931432
NM_000368.5(TSC1):c.1073C>T (p.Pro358Leu) rs2131961651
NM_000368.5(TSC1):c.1075C>G (p.Pro359Ala)
NM_000368.5(TSC1):c.1079C>G (p.Thr360Ser) rs118203493
NM_000368.5(TSC1):c.107A>T (p.Asp36Val) rs148468036
NM_000368.5(TSC1):c.1084_1086del (p.Pro362del) rs1554817252
NM_000368.5(TSC1):c.108C>G (p.Asp36Glu)
NM_000368.5(TSC1):c.1094T>C (p.Val365Ala) rs2131960121
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser) rs1309560054
NM_000368.5(TSC1):c.10C>A (p.Gln4Lys)
NM_000368.5(TSC1):c.1107G>A (p.Leu369=) rs909737447
NM_000368.5(TSC1):c.1107G>T (p.Leu369=) rs909737447
NM_000368.5(TSC1):c.1109C>T (p.Ser370Leu) rs796053457
NM_000368.5(TSC1):c.1110A>C (p.Ser370=) rs371648887
NM_000368.5(TSC1):c.1113C>A (p.His371Gln) rs771217333
NM_000368.5(TSC1):c.1121G>A (p.Ser374Asn) rs1564488001
NM_000368.5(TSC1):c.1123A>G (p.Lys375Glu) rs1564487989
NM_000368.5(TSC1):c.1127T>A (p.Val376Asp) rs1588322703
NM_000368.5(TSC1):c.1128C>G (p.Val376=) rs1419093686
NM_000368.5(TSC1):c.1129T>C (p.Phe377Leu) rs1845926660
NM_000368.5(TSC1):c.112G>T (p.Gly38Cys) rs1846929239
NM_000368.5(TSC1):c.1133G>A (p.Gly378Asp)
NM_000368.5(TSC1):c.1138A>G (p.Thr380Ala) rs1060503216
NM_000368.5(TSC1):c.1141+3A>G
NM_000368.5(TSC1):c.114C>T (p.Gly38=)
NM_000368.5(TSC1):c.1151A>G (p.Lys384Arg) rs1845907002
NM_000368.5(TSC1):c.1152A>G (p.Lys384=) rs1554817165
NM_000368.5(TSC1):c.1156A>C (p.Thr386Pro)
NM_000368.5(TSC1):c.1159C>T (p.Pro387Ser)
NM_000368.5(TSC1):c.1167A>T (p.Gly389=) rs876660723
NM_000368.5(TSC1):c.1172C>T (p.Pro391Leu)
NM_000368.5(TSC1):c.1177A>T (p.Thr393Ser) rs1845904791
NM_000368.5(TSC1):c.1188T>C (p.Pro396=)
NM_000368.5(TSC1):c.1194C>G (p.Ala398=) rs1060504861
NM_000368.5(TSC1):c.1195C>G (p.Pro399Ala) rs1060503211
NM_000368.5(TSC1):c.1195C>T (p.Pro399Ser) rs1060503211
NM_000368.5(TSC1):c.1195_1196delinsTG (p.Pro399Ter)
NM_000368.5(TSC1):c.1197A>C (p.Pro399=) rs2131943425
NM_000368.5(TSC1):c.1197A>G (p.Pro399=) rs2131943425
NM_000368.5(TSC1):c.1202G>A (p.Cys401Tyr) rs2131942881
NM_000368.5(TSC1):c.1209G>C (p.Ser403=)
NM_000368.5(TSC1):c.1209G>T (p.Ser403=) rs141184479
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val) rs1554817130
NM_000368.5(TSC1):c.1219G>C (p.Val407Leu) rs769331772
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.5(TSC1):c.1222C>T (p.His408Tyr)
NM_000368.5(TSC1):c.1223A>C (p.His408Pro) rs1554817122
NM_000368.5(TSC1):c.1225A>T (p.Ile409Phe)
NM_000368.5(TSC1):c.1227T>G (p.Ile409Met)
NM_000368.5(TSC1):c.1229C>T (p.Ser410Leu) rs1564487289
NM_000368.5(TSC1):c.1230A>C (p.Ser410=) rs2131940277
NM_000368.5(TSC1):c.1234C>T (p.Pro412Ser)
NM_000368.5(TSC1):c.1236C>T (p.Pro412=) rs1588321355
NM_000368.5(TSC1):c.1239G>A (p.Gln413=) rs786203715
NM_000368.5(TSC1):c.1245A>G (p.Thr415=) rs2131939065
NM_000368.5(TSC1):c.1247T>A (p.Val416Asp)
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys) rs77464996
NM_000368.5(TSC1):c.1252C>G (p.Pro418Ala) rs1845895299
NM_000368.5(TSC1):c.1255C>A (p.Pro419Thr)
NM_000368.5(TSC1):c.1256C>A (p.Pro419His) rs878853959
NM_000368.5(TSC1):c.1256C>T (p.Pro419Leu) rs878853959
NM_000368.5(TSC1):c.1257C>A (p.Pro419=) rs369642207
NM_000368.5(TSC1):c.1261_1263dup (p.Lys421_Glu422insLys)
NM_000368.5(TSC1):c.1263+37C>T
NM_000368.5(TSC1):c.1263+4C>T rs1554817077
NM_000368.5(TSC1):c.1269G>A (p.Glu423=) rs1272450087
NM_000368.5(TSC1):c.1271_1272del (p.Arg424fs) rs118203509
NM_000368.5(TSC1):c.1274T>G (p.Met425Arg)
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu) rs587778721
NM_000368.5(TSC1):c.1289C>T (p.Pro430Leu) rs1845727308
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg) rs762688935
NM_000368.5(TSC1):c.1294C>A (p.Leu432Ile)
NM_000368.5(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.5(TSC1):c.1298A>G (p.His433Arg) rs1554816403
NM_000368.5(TSC1):c.12A>G (p.Gln4=) rs1588363707
NM_000368.5(TSC1):c.1305A>C (p.Gln435His) rs1334781311
NM_000368.5(TSC1):c.1309C>G (p.His437Asp) rs985183299
NM_000368.5(TSC1):c.1309C>T (p.His437Tyr) rs985183299
NM_000368.5(TSC1):c.130A>T (p.Thr44Ser) rs1399266964
NM_000368.5(TSC1):c.1319A>G (p.Asn440Ser) rs2131879422
NM_000368.5(TSC1):c.1320T>C (p.Asn440=)
NM_000368.5(TSC1):c.1336G>C (p.Glu446Gln)
NM_000368.5(TSC1):c.1338G>A (p.Glu446=) rs1410493156
NM_000368.5(TSC1):c.1338G>C (p.Glu446Asp)
NM_000368.5(TSC1):c.1339C>G (p.Pro447Ala) rs1588313030
NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu) rs772868048
NM_000368.5(TSC1):c.1343C>T (p.Pro448Leu) rs397514848
NM_000368.5(TSC1):c.1355G>A (p.Gly452Asp) rs371093730
NM_000368.5(TSC1):c.1355G>T (p.Gly452Val)
NM_000368.5(TSC1):c.1359T>C (p.Ser453=) rs1468470312
NM_000368.5(TSC1):c.1363A>G (p.Thr455Ala)
NM_000368.5(TSC1):c.1370G>A (p.Ser457Asn) rs2131866202
NM_000368.5(TSC1):c.1372G>C (p.Asp458His) rs2131866030
NM_000368.5(TSC1):c.1382G>A (p.Gly461Glu) rs140953644
NM_000368.5(TSC1):c.1385T>C (p.Phe462Ser) rs1588312788
NM_000368.5(TSC1):c.1407A>C (p.Glu469Asp)
NM_000368.5(TSC1):c.1412A>T (p.Asp471Val) rs2131863099
NM_000368.5(TSC1):c.1415G>A (p.Ser472Asn) rs1203620977
NM_000368.5(TSC1):c.1415G>C (p.Ser472Thr) rs1203620977
NM_000368.5(TSC1):c.1418T>A (p.Ile473Asn)
NM_000368.5(TSC1):c.1428T>C (p.Asp476=)
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr) rs1554816213
NM_000368.5(TSC1):c.1430A>T (p.Lys477Ile)
NM_000368.5(TSC1):c.1432G>C (p.Glu478Gln)
NM_000368.5(TSC1):c.1434A>G (p.Glu478=) rs1588312602
NM_000368.5(TSC1):c.1439-10_1439-3del rs753878222
NM_000368.5(TSC1):c.1443A>G (p.Ala481=) rs1554816081
NM_000368.5(TSC1):c.1444A>G (p.Ile482Val)
NM_000368.5(TSC1):c.1446A>G (p.Ile482Met) rs1845658834
NM_000368.5(TSC1):c.1467CAC[1] (p.Thr491del) rs1554816071
NM_000368.5(TSC1):c.1467del (p.Thr490fs)
NM_000368.5(TSC1):c.1469C>T (p.Thr490Ile) rs1564482593
NM_000368.5(TSC1):c.1476A>C (p.Ala492=) rs1554816067
NM_000368.5(TSC1):c.1476A>G (p.Ala492=)
NM_000368.5(TSC1):c.1482A>G (p.Ala494=)
NM_000368.5(TSC1):c.1486C>T (p.Pro496Ser)
NM_000368.5(TSC1):c.1489G>C (p.Val497Leu) rs946491568
NM_000368.5(TSC1):c.148C>G (p.Leu50Val) rs2132268675
NM_000368.5(TSC1):c.1492G>A (p.Val498Ile)
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.5(TSC1):c.149T>G (p.Leu50Arg)
NM_000368.5(TSC1):c.1503A>C (p.Gly501=) rs201810746
NM_000368.5(TSC1):c.1512C>T (p.Asp504=)
NM_000368.5(TSC1):c.1518C>G (p.Pro506=) rs1588310935
NM_000368.5(TSC1):c.1518C>T (p.Pro506=) rs1588310935
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1530C>T (p.Asp510=) rs1554816033
NM_000368.5(TSC1):c.1533T>C (p.Ser511=) rs1588310849
NM_000368.5(TSC1):c.1534C>T (p.Leu512Phe)
NM_000368.5(TSC1):c.1536C>T (p.Leu512=) rs1264512400
NM_000368.5(TSC1):c.1538C>T (p.Pro513Leu)
NM_000368.5(TSC1):c.1541G>T (p.Gly514Val)
NM_000368.5(TSC1):c.1549C>A (p.Arg517=) rs1243886871
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp) rs1243886871
NM_000368.5(TSC1):c.1558C>T (p.His520Tyr) rs1845649293
NM_000368.5(TSC1):c.1563G>A (p.Ser521=) rs1554816005
NM_000368.5(TSC1):c.1567G>A (p.Ala523Thr) rs118203548
NM_000368.5(TSC1):c.1569C>T (p.Ala523=) rs1234835402
NM_000368.5(TSC1):c.156C>G (p.Thr52=) rs1564503304
NM_000368.5(TSC1):c.156C>T (p.Thr52=) rs1564503304
NM_000368.5(TSC1):c.1581G>C (p.Gln527His) rs1554815989
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del) rs766376606
NM_000368.5(TSC1):c.1585G>T (p.Ala529Ser) rs751125011
NM_000368.5(TSC1):c.1587C>T (p.Ala529=)
NM_000368.5(TSC1):c.1588A>G (p.Ser530Gly)
NM_000368.5(TSC1):c.158G>C (p.Ser53Thr)
NM_000368.5(TSC1):c.1600G>C (p.Glu534Gln)
NM_000368.5(TSC1):c.1602G>A (p.Glu534=)
NM_000368.5(TSC1):c.1602_1603delinsTG (p.Glu534_Pro535delinsAspAla) rs1554815972
NM_000368.5(TSC1):c.1603C>G (p.Pro535Ala)
NM_000368.5(TSC1):c.1604C>T (p.Pro535Leu) rs1164741723
NM_000368.5(TSC1):c.1608A>G (p.Leu536=)
NM_000368.5(TSC1):c.1611C>T (p.His537=) rs898271020
NM_000368.5(TSC1):c.1614C>A (p.Ser538=)
NM_000368.5(TSC1):c.1614C>T (p.Ser538=) rs878853961
NM_000368.5(TSC1):c.1623C>G (p.Asp541Glu) rs1346059974
NM_000368.5(TSC1):c.1624A>G (p.Lys542Glu) rs1845641716
NM_000368.5(TSC1):c.1628T>C (p.Leu543Pro) rs1588310271
NM_000368.5(TSC1):c.1634C>G (p.Pro545Arg)
NM_000368.5(TSC1):c.1640C>T (p.Thr547Ile)
NM_000368.5(TSC1):c.1641A>G (p.Thr547=)
NM_000368.5(TSC1):c.1641A>T (p.Thr547=)
NM_000368.5(TSC1):c.1645A>G (p.Lys549Glu)
NM_000368.5(TSC1):c.1647G>A (p.Lys549=) rs2131835538
NM_000368.5(TSC1):c.1666G>T (p.Asp556Tyr)
NM_000368.5(TSC1):c.1668C>A (p.Asp556Glu) rs1845637294
NM_000368.5(TSC1):c.1668C>T (p.Asp556=) rs1845637294
NM_000368.5(TSC1):c.1679G>A (p.Gly560Asp) rs1395737285
NM_000368.5(TSC1):c.1679G>T (p.Gly560Val) rs1395737285
NM_000368.5(TSC1):c.1680C>T (p.Gly560=)
NM_000368.5(TSC1):c.1686T>C (p.Ala562=)
NM_000368.5(TSC1):c.1687G>A (p.Asp563Asn) rs1554815931
NM_000368.5(TSC1):c.1687G>C (p.Asp563His) rs1554815931
NM_000368.5(TSC1):c.1688A>G (p.Asp563Gly) rs1588309959
NM_000368.5(TSC1):c.1689T>C (p.Asp563=)
NM_000368.5(TSC1):c.1695C>T (p.Ser565=) rs1845634405
NM_000368.5(TSC1):c.1700C>A (p.Ala567Glu)
NM_000368.5(TSC1):c.1701G>C (p.Ala567=) rs35478675
NM_000368.5(TSC1):c.1704A>C (p.Gly568=) rs1171240569
NM_000368.5(TSC1):c.1706A>G (p.Asp569Gly) rs1588309831
NM_000368.5(TSC1):c.1708_1709del (p.Arg570fs) rs118203564
NM_000368.5(TSC1):c.1710G>A (p.Arg570=) rs777386797
NM_000368.5(TSC1):c.1711G>A (p.Glu571Lys)
NM_000368.5(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.5(TSC1):c.1720A>G (p.Thr574Ala) rs1454859974
NM_000368.5(TSC1):c.1721C>T (p.Thr574Ile) rs548002938
NM_000368.5(TSC1):c.1724del (p.Ser575fs) rs1554815889
NM_000368.5(TSC1):c.1729G>A (p.Glu577Lys) rs118203570
NM_000368.5(TSC1):c.172T>C (p.Leu58=) rs1564503254
NM_000368.5(TSC1):c.1733C>T (p.Thr578Ile) rs1588309612
NM_000368.5(TSC1):c.1734C>T (p.Thr578=) rs1251871091
NM_000368.5(TSC1):c.1735A>G (p.Ser579Gly) rs1845629411
NM_000368.5(TSC1):c.1735A>T (p.Ser579Cys)
NM_000368.5(TSC1):c.1737T>C (p.Ser579=) rs1588309585
NM_000368.5(TSC1):c.1744A>G (p.Thr582Ala) rs1564481573
NM_000368.5(TSC1):c.1747C>T (p.Pro583Ser)
NM_000368.5(TSC1):c.1749C>T (p.Pro583=) rs876659216
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr) rs786203799
NM_000368.5(TSC1):c.1752T>C (p.Ser584=)
NM_000368.5(TSC1):c.1752T>G (p.Ser584Arg) rs1845627777
NM_000368.5(TSC1):c.1753C>T (p.Pro585Ser) rs766367103
NM_000368.5(TSC1):c.175C>T (p.His59Tyr)
NM_000368.5(TSC1):c.1767A>C (p.Pro589=) rs118203578
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser) rs1429666367
NM_000368.5(TSC1):c.1772C>A (p.Pro591Gln) rs768985094
NM_000368.5(TSC1):c.1776G>T (p.Thr592=) rs118203580
NM_000368.5(TSC1):c.1777A>G (p.Arg593Gly) rs118203581
NM_000368.5(TSC1):c.1781T>A (p.Val594Glu) rs1060503194
NM_000368.5(TSC1):c.1794C>A (p.Ser598Arg) rs766438395
NM_000368.5(TSC1):c.1796G>A (p.Gly599Glu) rs1845622314
NM_000368.5(TSC1):c.1802C>T (p.Pro601Leu) rs543077026
NM_000368.5(TSC1):c.1803T>A (p.Pro601=)
NM_000368.5(TSC1):c.1804C>A (p.Pro602Thr) rs1588309106
NM_000368.5(TSC1):c.1806C>T (p.Pro602=)
NM_000368.5(TSC1):c.1808C>A (p.Pro603Gln) rs751247705
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg) rs751247705
NM_000368.5(TSC1):c.180C>A (p.Ile60=) rs1162060045
NM_000368.5(TSC1):c.180C>T (p.Ile60=) rs1162060045
NM_000368.5(TSC1):c.1812T>C (p.Tyr604=)
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn) rs1588309025
NM_000368.5(TSC1):c.1816del (p.His606fs)
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe) rs1554815795
NM_000368.5(TSC1):c.1822T>C (p.Phe608Leu) rs1845619679
NM_000368.5(TSC1):c.1829T>A (p.Val610Glu)
NM_000368.5(TSC1):c.1833A>G (p.Ala611=) rs1240702401
NM_000368.5(TSC1):c.1834T>C (p.Leu612=) rs2131820086
NM_000368.5(TSC1):c.183G>A (p.Leu61=) rs1588359435
NM_000368.5(TSC1):c.1844C>T (p.Thr615Ile) rs1588308884
NM_000368.5(TSC1):c.1846G>A (p.Ala616Thr) rs1845618225
NM_000368.5(TSC1):c.1848C>G (p.Ala616=) rs752286096
NM_000368.5(TSC1):c.1852C>G (p.His618Asp) rs1588308804
NM_000368.5(TSC1):c.1853A>G (p.His618Arg) rs2131818558
NM_000368.5(TSC1):c.1855T>G (p.Phe619Val) rs1554815776
NM_000368.5(TSC1):c.1858G>A (p.Val620Ile)
NM_000368.5(TSC1):c.1863C>T (p.Ile621=) rs898222579
NM_000368.5(TSC1):c.186C>T (p.Thr62=) rs1554820640
NM_000368.5(TSC1):c.1872T>C (p.Thr624=) rs2131817057
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.5(TSC1):c.1879C>G (p.Leu627Val)
NM_000368.5(TSC1):c.1879C>T (p.Leu627=) rs1171110012
NM_000368.5(TSC1):c.1881G>T (p.Leu627=)
NM_000368.5(TSC1):c.1884_1885delinsGC (p.Lys629Gln) rs1554815756
NM_000368.5(TSC1):c.1893A>G (p.Ala631=)
NM_000368.5(TSC1):c.1893A>T (p.Ala631=) rs2131815302
NM_000368.5(TSC1):c.1894A>G (p.Lys632Glu)
NM_000368.5(TSC1):c.1895A>G (p.Lys632Arg) rs1554815747
NM_000368.5(TSC1):c.1903A>G (p.Thr635Ala)
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs) rs118203597
NM_000368.5(TSC1):c.1905A>G (p.Thr635=) rs2131814347
NM_000368.5(TSC1):c.1910A>G (p.Glu637Gly)
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp) rs372583166
NM_000368.5(TSC1):c.1920G>A (p.Val640=)
NM_000368.5(TSC1):c.1927A>T (p.Thr643Ser)
NM_000368.5(TSC1):c.1934C>T (p.Pro645Leu) rs1269162063
NM_000368.5(TSC1):c.1935A>G (p.Pro645=) rs1588308312
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr) rs1588308288
NM_000368.5(TSC1):c.1941A>T (p.Glu647Asp)
NM_000368.5(TSC1):c.1944G>T (p.Val648=)
NM_000368.5(TSC1):c.1947G>A (p.Leu649=)
NM_000368.5(TSC1):c.1948G>A (p.Asp650Asn)
NM_000368.5(TSC1):c.1950C>T (p.Asp650=) rs1845608638
NM_000368.5(TSC1):c.1955T>G (p.Leu652Arg)
NM_000368.5(TSC1):c.1958T>G (p.Ile653Arg)
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.5(TSC1):c.1962G>A (p.Gln654=)
NM_000368.5(TSC1):c.1963C>T (p.Gln655Ter) rs118203606
NM_000368.5(TSC1):c.1964A>T (p.Gln655Leu)
NM_000368.5(TSC1):c.1967G>A (p.Gly656Glu)
NM_000368.5(TSC1):c.1967G>C (p.Gly656Ala) rs1554815701
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.5(TSC1):c.1983C>A (p.Ser661Arg)
NM_000368.5(TSC1):c.1986G>A (p.Lys662=) rs2131807682
NM_000368.5(TSC1):c.1986G>T (p.Lys662Asn)
NM_000368.5(TSC1):c.1995C>G (p.Asn665Lys) rs748733167
NM_000368.5(TSC1):c.1997+2T>G rs2131806725
NM_000368.5(TSC1):c.1998-5C>T rs1845548849
NM_000368.5(TSC1):c.1998-81A>C
NM_000368.5(TSC1):c.2009C>A (p.Pro670His)
NM_000368.5(TSC1):c.2010C>T (p.Pro670=) rs1588305958
NM_000368.5(TSC1):c.2015A>C (p.Lys672Thr)
NM_000368.5(TSC1):c.2016G>A (p.Lys672=) rs748487106
NM_000368.5(TSC1):c.2019T>G (p.Ser673=)
NM_000368.5(TSC1):c.2022C>G (p.Val674=) rs118203618
NM_000368.5(TSC1):c.2022C>T (p.Val674=) rs118203618
NM_000368.5(TSC1):c.2023G>A (p.Asp675Asn) rs768189353
NM_000368.5(TSC1):c.2023G>T (p.Asp675Tyr) rs768189353
NM_000368.5(TSC1):c.2031C>A (p.Thr677=) rs1060504855
NM_000368.5(TSC1):c.2033A>G (p.His678Arg) rs745413532
NM_000368.5(TSC1):c.2037T>C (p.Phe679=)
NM_000368.5(TSC1):c.2037T>G (p.Phe679Leu)
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu) rs118203623
NM_000368.5(TSC1):c.2041+2T>C rs118203625
NM_000368.5(TSC1):c.2041+5del rs1564479424
NM_000368.5(TSC1):c.2041G>A (p.Gly681Ser) rs118203624
NM_000368.5(TSC1):c.2042-5A>G rs118203627
NM_000368.5(TSC1):c.2042-5A>T rs118203627
NM_000368.5(TSC1):c.2042G>A (p.Gly681Asp)
NM_000368.5(TSC1):c.2043C>A (p.Gly681=)
NM_000368.5(TSC1):c.2045C>G (p.Ser682Cys) rs919177189
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del) rs397514799
NM_000368.5(TSC1):c.2050C>T (p.Pro684Ser) rs746909024
NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg) rs1845511359
NM_000368.5(TSC1):c.2056G>A (p.Asp686Asn) rs1406756346
NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly) rs786201465
NM_000368.5(TSC1):c.2064C>A (p.Ile688=) rs878853963
NM_000368.5(TSC1):c.2066G>C (p.Arg689Pro) rs200827913
NM_000368.5(TSC1):c.2068A>G (p.Thr690Ala) rs752473063
NM_000368.5(TSC1):c.2069C>T (p.Thr690Ile) rs1845509575
NM_000368.5(TSC1):c.2071C>G (p.Leu691Val) rs1554815343
NM_000368.5(TSC1):c.2071C>T (p.Leu691Phe) rs1554815343
NM_000368.5(TSC1):c.2072T>C (p.Leu691Pro) rs876658244
NM_000368.5(TSC1):c.2074C>A (p.Arg692=)
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2075G>C (p.Arg692Pro) rs199755731
NM_000368.5(TSC1):c.2080_2095del (p.Gln694fs)
NM_000368.5(TSC1):c.2086C>T (p.Leu696Phe) rs1845506304
NM_000368.5(TSC1):c.2087T>C (p.Leu696Pro)
NM_000368.5(TSC1):c.2087T>G (p.Leu696Arg)
NM_000368.5(TSC1):c.208A>G (p.Lys70Glu) rs876658838
NM_000368.5(TSC1):c.2091A>G (p.Leu697=)
NM_000368.5(TSC1):c.2091A>T (p.Leu697Phe)
NM_000368.5(TSC1):c.2092C>A (p.Leu698Met)
NM_000368.5(TSC1):c.2097C>G (p.His699Gln)
NM_000368.5(TSC1):c.210+1G>C
NM_000368.5(TSC1):c.2102A>C (p.Gln701Pro)
NM_000368.5(TSC1):c.2103G>A (p.Gln701=) rs118203639
NM_000368.5(TSC1):c.2109C>G (p.Leu703=) rs1440846632
NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys) rs752054698
NM_000368.5(TSC1):c.2116C>T (p.Arg706Cys) rs1588304163
NM_000368.5(TSC1):c.2117G>A (p.Arg706His) rs1588304158
NM_000368.5(TSC1):c.2118T>C (p.Arg706=) rs2131766639
NM_000368.5(TSC1):c.2118T>G (p.Arg706=)
NM_000368.5(TSC1):c.2119T>C (p.Phe707Leu) rs1845501093
NM_000368.5(TSC1):c.2127G>A (p.Arg709=)
NM_000368.5(TSC1):c.2127G>C (p.Arg709Ser)
NM_000368.5(TSC1):c.2131C>A (p.Gln711Lys) rs118203647
NM_000368.5(TSC1):c.2132A>G (p.Gln711Arg)
NM_000368.5(TSC1):c.2136T>C (p.His712=) rs1554815286
NM_000368.5(TSC1):c.2138C>G (p.Ala713Gly)
NM_000368.5(TSC1):c.2140C>G (p.Leu714Val)
NM_000368.5(TSC1):c.2142C>T (p.Leu714=)
NM_000368.5(TSC1):c.2144G>T (p.Arg715Leu)
NM_000368.5(TSC1):c.2149A>C (p.Arg717=) rs1057523194
NM_000368.5(TSC1):c.2151G>A (p.Arg717=) rs1301689988
NM_000368.5(TSC1):c.2152C>T (p.Arg718Trp) rs1445358121
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln) rs1060503207
NM_000368.5(TSC1):c.2155C>G (p.Leu719Val)
NM_000368.5(TSC1):c.2155C>T (p.Leu719Phe)
NM_000368.5(TSC1):c.2161C>T (p.Arg721Cys) rs763357144
NM_000368.5(TSC1):c.2162G>A (p.Arg721His) rs769566267
NM_000368.5(TSC1):c.2171T>C (p.Ile724Thr) rs796053459
NM_000368.5(TSC1):c.2172C>T (p.Ile724=)
NM_000368.5(TSC1):c.2173A>G (p.Lys725Glu)
NM_000368.5(TSC1):c.2174A>G (p.Lys725Arg)
NM_000368.5(TSC1):c.2177C>T (p.Ala726Val)
NM_000368.5(TSC1):c.2178A>G (p.Ala726=) rs1588303718
NM_000368.5(TSC1):c.2181A>C (p.Ala727=) rs1588303703
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr) rs1845494587
NM_000368.5(TSC1):c.2192A>T (p.Glu731Val)
NM_000368.5(TSC1):c.2195A>G (p.His732Arg) rs878853964
NM_000368.5(TSC1):c.21C>G (p.Val7=) rs145987906
NM_000368.5(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.5(TSC1):c.2206A>T (p.Met736Leu) rs2131756215
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2209-2A>G
NM_000368.5(TSC1):c.2214T>A (p.Asp738Glu) rs1588302102
NM_000368.5(TSC1):c.2218T>C (p.Leu740=) rs2131741485
NM_000368.5(TSC1):c.221A>G (p.Asp74Gly) rs1846821741
NM_000368.5(TSC1):c.2220G>A (p.Leu740=) rs1588302073
NM_000368.5(TSC1):c.2222A>C (p.Lys741Thr) rs1588302047
NM_000368.5(TSC1):c.2223G>A (p.Lys741=) rs1588302038
NM_000368.5(TSC1):c.2229A>T (p.Gln743His)
NM_000368.5(TSC1):c.222C>T (p.Asp74=) rs1846821570
NM_000368.5(TSC1):c.2235G>A (p.Lys745=) rs753265422
NM_000368.5(TSC1):c.2235G>C (p.Lys745Asn) rs753265422
NM_000368.5(TSC1):c.2236G>T (p.Asp746Tyr) rs786203007
NM_000368.5(TSC1):c.2254G>A (p.Val752Ile) rs765643529
NM_000368.5(TSC1):c.225G>T (p.Arg75Ser)
NM_000368.5(TSC1):c.2275G>A (p.Ala759Thr) rs1060503199
NM_000368.5(TSC1):c.2276C>G (p.Ala759Gly) rs1554815021
NM_000368.5(TSC1):c.2276_2303del (p.Ala759fs)
NM_000368.5(TSC1):c.2277T>C (p.Ala759=)
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp) rs1264839312
NM_000368.5(TSC1):c.2291T>A (p.Leu764His)
NM_000368.5(TSC1):c.2291_2292delinsAA (p.Leu764Gln)
NM_000368.5(TSC1):c.2292C>A (p.Leu764=)
NM_000368.5(TSC1):c.2296G>C (p.Glu766Gln) rs1588301609
NM_000368.5(TSC1):c.2297A>G (p.Glu766Gly) rs1588301593
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu) rs118203675
NM_000368.5(TSC1):c.2300A>G (p.Gln767Arg) rs1845449144
NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys) rs1588301564
NM_000368.5(TSC1):c.2314G>C (p.Val772Leu)
NM_000368.5(TSC1):c.2327A>G (p.His776Arg)
NM_000368.5(TSC1):c.2329A>G (p.Ser777Gly) rs1554814968
NM_000368.5(TSC1):c.232G>C (p.Glu78Gln) rs1588355838
NM_000368.5(TSC1):c.2331C>G (p.Ser777Arg) rs1554814967
NM_000368.5(TSC1):c.2331C>T (p.Ser777=)
NM_000368.5(TSC1):c.2335A>G (p.Ile779Val) rs1845445721
NM_000368.5(TSC1):c.2339G>A (p.Arg780Lys) rs1845445479
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter) rs118203680
NM_000368.5(TSC1):c.2343G>A (p.Gln781=) rs2131731368
NM_000368.5(TSC1):c.2349G>A (p.Gln783=)
NM_000368.5(TSC1):c.2355C>T (p.Asp785=)
NM_000368.5(TSC1):c.2356C>G (p.Arg786Gly)
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2359G>A (p.Glu787Lys) rs1564477097
NM_000368.5(TSC1):c.2361G>C (p.Glu787Asp) rs1564477079
NM_000368.5(TSC1):c.2364A>C (p.Glu788Asp)
NM_000368.5(TSC1):c.236A>T (p.Tyr79Phe)
NM_000368.5(TSC1):c.2372A>G (p.Asn791Ser) rs876660894
NM_000368.5(TSC1):c.2374C>T (p.Gln792Ter)
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg) rs796053460
NM_000368.5(TSC1):c.2378G>A (p.Ser793Asn) rs2131728548
NM_000368.5(TSC1):c.237T>C (p.Tyr79=) rs761596603
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys) rs781371665
NM_000368.5(TSC1):c.2389C>A (p.Gln797Lys) rs397514862
NM_000368.5(TSC1):c.238G>A (p.Val80Met) rs1588355807
NM_000368.5(TSC1):c.2392-5G>A rs1463016849
NM_000368.5(TSC1):c.2393C>G (p.Thr798Arg)
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met) rs1331635112
NM_000368.5(TSC1):c.2412G>A (p.Arg804=) rs1554814676
NM_000368.5(TSC1):c.2417T>C (p.Met806Thr) rs2131708510
NM_000368.5(TSC1):c.2420T>C (p.Ile807Thr) rs118203690
NM_000368.5(TSC1):c.2421T>A (p.Ile807=) rs754248661
NM_000368.5(TSC1):c.2424G>T (p.Ala808=) rs200651872
NM_000368.5(TSC1):c.2425G>A (p.Glu809Lys) rs118203692
NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp) rs397514814
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln) rs761281095
NM_000368.5(TSC1):c.2438A>T (p.Glu813Val)
NM_000368.5(TSC1):c.2444A>C (p.Lys815Thr) rs1588299170
NM_000368.5(TSC1):c.2445G>T (p.Lys815Asn)
NM_000368.5(TSC1):c.2447A>G (p.Lys816Arg)
NM_000368.5(TSC1):c.2448G>A (p.Lys816=) rs1588299142
NM_000368.5(TSC1):c.2448G>T (p.Lys816Asn)
NM_000368.5(TSC1):c.2450C>T (p.Ala817Val) rs1845377267
NM_000368.5(TSC1):c.2451CAA[2] (p.Asn819del) rs1588299112
NM_000368.5(TSC1):c.2452A>G (p.Asn818Asp)
NM_000368.5(TSC1):c.2454C>G (p.Asn818Lys) rs1014587956
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg) rs1369700443
NM_000368.5(TSC1):c.2463G>C (p.Val821=) rs764014190
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala) rs1554814639
NM_000368.5(TSC1):c.2472T>G (p.Thr824=) rs762811821
NM_000368.5(TSC1):c.2474A>G (p.Glu825Gly)
NM_000368.5(TSC1):c.247G>C (p.Ala83Pro) rs76667066
NM_000368.5(TSC1):c.2485A>G (p.Ser829Gly)
NM_000368.5(TSC1):c.2491G>T (p.Val831Phe) rs773279842
NM_000368.5(TSC1):c.2496C>G (p.Ser832=) rs1588298915
NM_000368.5(TSC1):c.2499A>G (p.Gln833=) rs1554814615
NM_000368.5(TSC1):c.24G>A (p.Gly8=)
NM_000368.5(TSC1):c.2502+1G>A
NM_000368.5(TSC1):c.2503-4T>C rs772414581
NM_000368.5(TSC1):c.2503C>G (p.Leu835Val)
NM_000368.5(TSC1):c.2505C>G (p.Leu835=)
NM_000368.5(TSC1):c.2507C>G (p.Ser836Ter) rs118203706
NM_000368.5(TSC1):c.2508A>C (p.Ser836=) rs1554814456
NM_000368.5(TSC1):c.2509A>C (p.Asn837His)
NM_000368.5(TSC1):c.2509A>G (p.Asn837Asp)
NM_000368.5(TSC1):c.250G>T (p.Ala84Ser)
NM_000368.5(TSC1):c.2512A>G (p.Ser838Gly) rs1845335475
NM_000368.5(TSC1):c.2513G>C (p.Ser838Thr) rs1060503208
NM_000368.5(TSC1):c.2514T>A (p.Ser838Arg)
NM_000368.5(TSC1):c.2514T>C (p.Ser838=) rs786203259
NM_000368.5(TSC1):c.2514T>G (p.Ser838Arg) rs786203259
NM_000368.5(TSC1):c.2515G>A (p.Glu839Lys) rs2131689008
NM_000368.5(TSC1):c.2516A>G (p.Glu839Gly) rs1588297551
NM_000368.5(TSC1):c.2521G>T (p.Val841Phe) rs1343088775
NM_000368.5(TSC1):c.2523C>T (p.Val841=) rs397514825
NM_000368.5(TSC1):c.252C>T (p.Ala84=)
NM_000368.5(TSC1):c.2530C>T (p.Gln844Ter) rs1114167619
NM_000368.5(TSC1):c.2546_2552del (p.Asn849fs)
NM_000368.5(TSC1):c.2551C>T (p.Gln851Ter) rs1588297391
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys) rs1463772907
NM_000368.5(TSC1):c.2572G>A (p.Val858Ile) rs1845329722
NM_000368.5(TSC1):c.2578G>A (p.Glu860Lys) rs1169898186
NM_000368.5(TSC1):c.257G>A (p.Arg86His) rs1846818019
NM_000368.5(TSC1):c.2587T>C (p.Leu863=)
NM_000368.5(TSC1):c.2593C>T (p.Gln865Ter) rs886039662
NM_000368.5(TSC1):c.2599C>T (p.Gln867Ter) rs2131685383
NM_000368.5(TSC1):c.2608C>G (p.His870Asp)
NM_000368.5(TSC1):c.2610C>G (p.His870Gln)
NM_000368.5(TSC1):c.2613A>G (p.Ser871=) rs1031508405
NM_000368.5(TSC1):c.2614G>A (p.Asp872Asn) rs746607455
NM_000368.5(TSC1):c.2614G>T (p.Asp872Tyr)
NM_000368.5(TSC1):c.2620A>C (p.Thr874Pro) rs1554814368
NM_000368.5(TSC1):c.2624_2625+3dup
NM_000368.5(TSC1):c.2626-2A>C rs118203717
NM_000368.5(TSC1):c.2626-4del rs5901000
NM_000368.5(TSC1):c.2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-5T>G rs1444272064
NM_000368.5(TSC1):c.2626-5_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4dup rs5901000
NM_000368.5(TSC1):c.2626G>A (p.Glu876Lys) rs747602915
NM_000368.5(TSC1):c.2628A>G (p.Glu876=) rs1588291185
NM_000368.5(TSC1):c.2629G>A (p.Val877Ile) rs1321117036
NM_000368.5(TSC1):c.262T>G (p.Ser88Ala)
NM_000368.5(TSC1):c.2635A>G (p.Met879Val) rs778416424
NM_000368.5(TSC1):c.2637G>A (p.Met879Ile) rs1554813610
NM_000368.5(TSC1):c.2637G>T (p.Met879Ile) rs1554813610
NM_000368.5(TSC1):c.263_277delinsTA (p.Ser88fs)
NM_000368.5(TSC1):c.2640G>T (p.Met880Ile) rs1218889799
NM_000368.5(TSC1):c.2643A>T (p.Lys881Asn) rs1554813602
NM_000368.5(TSC1):c.2646C>A (p.Ala882=)
NM_000368.5(TSC1):c.2648C>T (p.Ala883Val)
NM_000368.5(TSC1):c.2649C>G (p.Ala883=) rs1279318276
NM_000368.5(TSC1):c.2656A>G (p.Lys886Glu) rs1554813568
NM_000368.5(TSC1):c.265A>G (p.Ile89Val) rs1564501798
NM_000368.5(TSC1):c.2664A>G (p.Leu888=) rs2131638076
NM_000368.5(TSC1):c.2665G>A (p.Glu889Lys)
NM_000368.5(TSC1):c.2665_2666delinsAT (p.Glu889Ile) rs587778724
NM_000368.5(TSC1):c.2666A>T (p.Glu889Val)
NM_000368.5(TSC1):c.2667A>G (p.Glu889=) rs1554813546
NM_000368.5(TSC1):c.2667A>T (p.Glu889Asp)
NM_000368.5(TSC1):c.2668A>G (p.Lys890Glu) rs543892243
NM_000368.5(TSC1):c.266T>C (p.Ile89Thr) rs1564501791
NM_000368.5(TSC1):c.2672A>G (p.Asn891Ser) rs1060503203
NM_000368.5(TSC1):c.2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2673C>A (p.Asn891Lys)
NM_000368.5(TSC1):c.2675G>A (p.Arg892Lys)
NM_000368.5(TSC1):c.2679C>T (p.Ser893=) rs374311456
NM_000368.5(TSC1):c.267C>G (p.Ile89Met) rs1846816338
NM_000368.5(TSC1):c.2680C>T (p.His894Tyr) rs1845148693
NM_000368.5(TSC1):c.2681A>G (p.His894Arg) rs1588290830
NM_000368.5(TSC1):c.2683G>A (p.Val895Ile) rs576476807
NM_000368.5(TSC1):c.2686C>A (p.Leu896Ile) rs377132822
NM_000368.5(TSC1):c.2688C>T (p.Leu896=)
NM_000368.5(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.5(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
NM_000368.5(TSC1):c.2697T>A (p.Thr899=)
NM_000368.5(TSC1):c.2697T>G (p.Thr899=)
NM_000368.5(TSC1):c.2698C>T (p.Gln900Ter) rs397514871
NM_000368.5(TSC1):c.2700G>C (p.Gln900His) rs560986491
NM_000368.5(TSC1):c.2703G>A (p.Arg901=)
NM_000368.5(TSC1):c.2704C>A (p.Leu902Ile)
NM_000368.5(TSC1):c.2707G>C (p.Asp903His)
NM_000368.5(TSC1):c.2710A>G (p.Thr904Ala) rs1554813482
NM_000368.5(TSC1):c.2713T>A (p.Ser905Thr)
NM_000368.5(TSC1):c.2715C>T (p.Ser905=)
NM_000368.5(TSC1):c.2717A>C (p.Gln906Pro)
NM_000368.5(TSC1):c.2718A>G (p.Gln906=) rs1845144230
NM_000368.5(TSC1):c.2725A>G (p.Ile909Val)
NM_000368.5(TSC1):c.2728T>C (p.Leu910=)
NM_000368.5(TSC1):c.272C>T (p.Ser91Leu) rs118203361
NM_000368.5(TSC1):c.2733A>G (p.Glu911=)
NM_000368.5(TSC1):c.2736G>A (p.Leu912=) rs1588290587
NM_000368.5(TSC1):c.273G>C (p.Ser91=) rs115097221
NM_000368.5(TSC1):c.2746C>T (p.Leu916=) rs2131633483
NM_000368.5(TSC1):c.2748G>C (p.Leu916=) rs1588290553
NM_000368.5(TSC1):c.2749G>C (p.Ala917Pro) rs397514873
NM_000368.5(TSC1):c.2755A>C (p.Lys919Gln) rs1319954878
NM_000368.5(TSC1):c.2760C>T (p.Asp920=) rs1226490074
NM_000368.5(TSC1):c.2763C>A (p.His921Gln)
NM_000368.5(TSC1):c.2773G>A (p.Glu925Lys)
NM_000368.5(TSC1):c.2778G>A (p.Gln926=) rs1554813423
NM_000368.5(TSC1):c.2778G>C (p.Gln926His) rs1554813423
NM_000368.5(TSC1):c.2787T>C (p.Tyr929=) rs753980869
NM_000368.5(TSC1):c.2791G>C (p.Glu931Gln) rs1845137395
NM_000368.5(TSC1):c.2794G>A (p.Asp932Asn) rs2131630999
NM_000368.5(TSC1):c.2796T>G (p.Asp932Glu) rs766871150
NM_000368.5(TSC1):c.27G>A (p.Glu9=)
NM_000368.5(TSC1):c.27G>C (p.Glu9Asp)
NM_000368.5(TSC1):c.2804T>G (p.Leu935Arg) rs2131630651
NM_000368.5(TSC1):c.2807A>G (p.Gln936Arg) rs2131630505
NM_000368.5(TSC1):c.2808G>A (p.Gln936=) rs1588290331
NM_000368.5(TSC1):c.2813+1G>C
NM_000368.5(TSC1):c.2813+5C>T rs1060503223
NM_000368.5(TSC1):c.2813G>A (p.Arg938Lys) rs1249697208
NM_000368.5(TSC1):c.2815G>A (p.Gly939Arg) rs1564471685
NM_000368.5(TSC1):c.2816G>T (p.Gly939Val) rs1350545510
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.2824C>T (p.Gln942Ter)
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser) rs751362258
NM_000368.5(TSC1):c.2832A>G (p.Ala944=) rs2131628099
NM_000368.5(TSC1):c.2836A>G (p.Ser946Gly) rs1060503225
NM_000368.5(TSC1):c.2837G>A (p.Ser946Asn) rs1845130264
NM_000368.5(TSC1):c.2838C>A (p.Ser946Arg)
NM_000368.5(TSC1):c.2839A>G (p.Arg947Gly) rs1845130132
NM_000368.5(TSC1):c.2840G>A (p.Arg947Lys)
NM_000368.5(TSC1):c.2843A>G (p.Tyr948Cys) rs989183765
NM_000368.5(TSC1):c.2849C>T (p.Ala950Val)
NM_000368.5(TSC1):c.284A>G (p.His95Arg)
NM_000368.5(TSC1):c.2853G>A (p.Gln951=) rs2131627425
NM_000368.5(TSC1):c.2854A>G (p.Lys952Glu)
NM_000368.5(TSC1):c.2861T>A (p.Ile954Lys) rs1845129125
NM_000368.5(TSC1):c.2861T>C (p.Ile954Thr)
NM_000368.5(TSC1):c.2864C>A (p.Thr955Asn) rs1488726432
NM_000368.5(TSC1):c.2868G>A (p.Gln956=) rs2131626958
NM_000368.5(TSC1):c.2869G>A (p.Val957Met)
NM_000368.5(TSC1):c.286G>C (p.Val96Leu) rs987344953
NM_000368.5(TSC1):c.2873T>C (p.Phe958Ser)
NM_000368.5(TSC1):c.2884A>C (p.Ile962Leu) rs1227198324
NM_000368.5(TSC1):c.2884A>G (p.Ile962Val) rs1227198324
NM_000368.5(TSC1):c.2886C>A (p.Ile962=)
NM_000368.5(TSC1):c.2887T>G (p.Leu963Val)
NM_000368.5(TSC1):c.2890G>A (p.Asp964Asn) rs1033463168
NM_000368.5(TSC1):c.289A>T (p.Ile97Leu) rs138541569
NM_000368.5(TSC1):c.2904G>A (p.Arg968=) rs1554813280
NM_000368.5(TSC1):c.2905T>C (p.Leu969=) rs768350176
NM_000368.5(TSC1):c.2905T>G (p.Leu969Val)
NM_000368.5(TSC1):c.2909A>G (p.Glu970Gly) rs1372477238
NM_000368.5(TSC1):c.2919C>T (p.Gly973=)
NM_000368.5(TSC1):c.291A>G (p.Ile97Met) rs1588355427
NM_000368.5(TSC1):c.2920C>T (p.Leu974Phe)
NM_000368.5(TSC1):c.2925G>A (p.Leu975=)
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu) rs796053448
NM_000368.5(TSC1):c.2927A>G (p.Lys976Arg)
NM_000368.5(TSC1):c.2928A>C (p.Lys976Asn)
NM_000368.5(TSC1):c.292A>G (p.Arg98Gly) rs2132233857
NM_000368.5(TSC1):c.2930A>C (p.Lys977Thr)
NM_000368.5(TSC1):c.2932C>A (p.Leu978Ile) rs397514859
NM_000368.5(TSC1):c.2933T>A (p.Leu978His) rs770834438
NM_000368.5(TSC1):c.2934T>C (p.Leu978=) rs1554813253
NM_000368.5(TSC1):c.2935G>A (p.Glu979Lys) rs1845118974
NM_000368.5(TSC1):c.2938G>A (p.Glu980Lys) rs876658600
NM_000368.5(TSC1):c.293G>T (p.Arg98Ile)
NM_000368.5(TSC1):c.2956G>A (p.Ala986Thr)
NM_000368.5(TSC1):c.2963C>T (p.Ala988Val) rs1239372124
NM_000368.5(TSC1):c.296T>C (p.Leu99Pro)
NM_000368.5(TSC1):c.2973A>G (p.Glu991=)
NM_000368.5(TSC1):c.2975+1G>A
NM_000368.5(TSC1):c.2975+4G>C rs1057521710
NM_000368.5(TSC1):c.2976-13G>A
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr) rs144314195
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly) rs1554813029
NM_000368.5(TSC1):c.2990A>G (p.Asn997Ser)
NM_000368.5(TSC1):c.2991T>G (p.Asn997Lys)
NM_000368.5(TSC1):c.2992G>A (p.Asp998Asn)
NM_000368.5(TSC1):c.2995G>C (p.Gly999Arg) rs780224196
NM_000368.5(TSC1):c.2996G>T (p.Gly999Val) rs1845089126
NM_000368.5(TSC1):c.3000C>G (p.Cys1000Trp) rs552217429
NM_000368.5(TSC1):c.3002C>T (p.Ser1001Leu)
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe) rs1554812991
NM_000368.5(TSC1):c.3009C>T (p.Ser1003=) rs2131615637
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile) rs751970451
NM_000368.5(TSC1):c.3013G>A (p.Val1005Ile) rs1588288220
NM_000368.5(TSC1):c.3015A>T (p.Val1005=)
NM_000368.5(TSC1):c.3022A>C (p.Asn1008His)
NM_000368.5(TSC1):c.3027A>G (p.Glu1009=) rs1588288126
NM_000368.5(TSC1):c.3030G>A (p.Glu1010=) rs118203741
NM_000368.5(TSC1):c.3034T>A (p.Ser1012Thr)
NM_000368.5(TSC1):c.3039C>A (p.Gly1013=)
NM_000368.5(TSC1):c.3039C>T (p.Gly1013=)
NM_000368.5(TSC1):c.3041A>G (p.His1014Arg) rs2131613922
NM_000368.5(TSC1):c.3042C>T (p.His1014=) rs1394343524
NM_000368.5(TSC1):c.3048T>C (p.Gly1016=) rs786203900
NM_000368.5(TSC1):c.3049G>A (p.Glu1017Lys) rs1554812930
NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu) rs1317622700
NM_000368.5(TSC1):c.3056A>G (p.Lys1019Arg) rs2131612809
NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile) rs1060503214
NM_000368.5(TSC1):c.305C>A (p.Ser102Tyr)
NM_000368.5(TSC1):c.3060C>T (p.Thr1020=) rs1380396209
NM_000368.5(TSC1):c.3063C>T (p.Pro1021=) rs2131612277
NM_000368.5(TSC1):c.3064A>C (p.Arg1022=)
NM_000368.5(TSC1):c.3064A>G (p.Arg1022Gly)
NM_000368.5(TSC1):c.3065G>C (p.Arg1022Thr)
NM_000368.5(TSC1):c.3066del (p.Arg1022fs)
NM_000368.5(TSC1):c.3067C>T (p.Pro1023Ser) rs138445573
NM_000368.5(TSC1):c.3068C>T (p.Pro1023Leu) rs1554812917
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=) rs1588287899
NM_000368.5(TSC1):c.306T>C (p.Ser102=)
NM_000368.5(TSC1):c.3070A>T (p.Ser1024Cys)
NM_000368.5(TSC1):c.3073A>T (p.Ser1025Cys)
NM_000368.5(TSC1):c.3074G>A (p.Ser1025Asn) rs1845081620
NM_000368.5(TSC1):c.3074G>T (p.Ser1025Ile)
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295
NM_000368.5(TSC1):c.3076G>T (p.Ala1026Ser) rs533565295
NM_000368.5(TSC1):c.3076_3077delinsTT (p.Ala1026Phe) rs1588287842
NM_000368.5(TSC1):c.3079C>G (p.Arg1027Gly)
NM_000368.5(TSC1):c.3083G>A (p.Gly1028Asp) rs1845080410
NM_000368.5(TSC1):c.3084_3086del (p.Ser1030del) rs1588287797
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn) rs796053450
NM_000368.5(TSC1):c.3087T>C (p.Ser1029=)
NM_000368.5(TSC1):c.3088A>G (p.Ser1030Gly)
NM_000368.5(TSC1):c.3091G>A (p.Gly1031Arg) rs772043928
NM_000368.5(TSC1):c.3099A>C (p.Arg1033Ser) rs1015742388
NM_000368.5(TSC1):c.3102T>C (p.Gly1034=)
NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp) rs1176815392
NM_000368.5(TSC1):c.3105T>C (p.Gly1035=)
NM_000368.5(TSC1):c.3106G>A (p.Gly1036Arg) rs1588287655
NM_000368.5(TSC1):c.3106_3107delinsAA (p.Gly1036Lys) rs2131609182
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu) rs774196458
NM_000368.5(TSC1):c.3107G>T (p.Gly1036Val)
NM_000368.5(TSC1):c.3109G>A (p.Gly1037Ser)
NM_000368.5(TSC1):c.3112AGC[4] (p.Ser1042_Ser1043del) rs2234980
NM_000368.5(TSC1):c.3112AGC[5] (p.Ser1043del) rs2234980
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3112AGC[8] (p.Ser1042_Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3112AGC[9] (p.Ser1041_Ser1043dup) rs2234980
NM_000368.5(TSC1):c.3113G>A (p.Ser1038Asn) rs1060503196
NM_000368.5(TSC1):c.3115A>C (p.Ser1039Arg) rs1490199228
NM_000368.5(TSC1):c.3124A>G (p.Ser1042Gly) rs1845075552
NM_000368.5(TSC1):c.3125G>A (p.Ser1042Asn) rs148931779
NM_000368.5(TSC1):c.3127A>G (p.Ser1043Gly) rs1554812848
NM_000368.5(TSC1):c.3132G>A (p.Glu1044=) rs1588287426
NM_000368.5(TSC1):c.3133C>G (p.Leu1045Val) rs747162992
NM_000368.5(TSC1):c.3133C>T (p.Leu1045Phe) rs747162992
NM_000368.5(TSC1):c.3141C>A (p.Thr1047=) rs892228756
NM_000368.5(TSC1):c.3143C>T (p.Pro1048Leu) rs1203864892
NM_000368.5(TSC1):c.3144A>C (p.Pro1048=) rs1554812826
NM_000368.5(TSC1):c.3147G>C (p.Glu1049Asp) rs397514831
NM_000368.5(TSC1):c.3152C>A (p.Pro1051His) rs1588287285
NM_000368.5(TSC1):c.3152C>G (p.Pro1051Arg)
NM_000368.5(TSC1):c.3153C>T (p.Pro1051=)
NM_000368.5(TSC1):c.3154C>T (p.Pro1052Ser)
NM_000368.5(TSC1):c.3155C>G (p.Pro1052Arg)
NM_000368.5(TSC1):c.3155C>T (p.Pro1052Leu)
NM_000368.5(TSC1):c.3157C>G (p.His1053Asp)
NM_000368.5(TSC1):c.3159C>T (p.His1053=) rs778413037
NM_000368.5(TSC1):c.3164G>T (p.Arg1055Met) rs1167652701
NM_000368.5(TSC1):c.3173C>T (p.Pro1058Leu)
NM_000368.5(TSC1):c.3181A>C (p.Ser1061Arg) rs1203493016
NM_000368.5(TSC1):c.3183T>C (p.Ser1061=) rs2131603096
NM_000368.5(TSC1):c.3184C>A (p.Arg1062=) rs118203745
NM_000368.5(TSC1):c.3186G>T (p.Arg1062=)
NM_000368.5(TSC1):c.318G>A (p.Lys106=)
NM_000368.5(TSC1):c.3191A>T (p.Glu1064Val)
NM_000368.5(TSC1):c.3196A>C (p.Thr1066Pro)
NM_000368.5(TSC1):c.3197C>T (p.Thr1066Ile)
NM_000368.5(TSC1):c.319C>G (p.Leu107Val)
NM_000368.5(TSC1):c.3205G>A (p.Glu1069Lys) rs1845061706
NM_000368.5(TSC1):c.3207A>C (p.Glu1069Asp)
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.5(TSC1):c.3212C>T (p.Ser1071Phe) rs2131601255
NM_000368.5(TSC1):c.3213T>C (p.Ser1071=) rs2131601196
NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val) rs779369226
NM_000368.5(TSC1):c.3217A>G (p.Ser1073Gly) rs1845059319
NM_000368.5(TSC1):c.3222C>G (p.Ile1074Met)
NM_000368.5(TSC1):c.3222C>T (p.Ile1074=)
NM_000368.5(TSC1):c.3228C>G (p.Thr1076=)
NM_000368.5(TSC1):c.3230C>G (p.Thr1077Ser)
NM_000368.5(TSC1):c.3231T>C (p.Thr1077=) rs118203748
NM_000368.5(TSC1):c.3234G>A (p.Val1078=) rs1564470051
NM_000368.5(TSC1):c.3240A>G (p.Ser1080=) rs1554812759
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala) rs1060503191
NM_000368.5(TSC1):c.3245C>T (p.Pro1082Leu) rs767439431
NM_000368.5(TSC1):c.3246C>T (p.Pro1082=) rs2131599043
NM_000368.5(TSC1):c.3248G>T (p.Ser1083Ile)
NM_000368.5(TSC1):c.3256A>C (p.Ser1086Arg)
NM_000368.5(TSC1):c.3258C>A (p.Ser1086Arg) rs1845053380
NM_000368.5(TSC1):c.3258C>T (p.Ser1086=)
NM_000368.5(TSC1):c.325C>A (p.Gln109Lys)
NM_000368.5(TSC1):c.3261C>T (p.Phe1087=) rs2131598168
NM_000368.5(TSC1):c.3263T>G (p.Leu1088Arg) rs1845053005
NM_000368.5(TSC1):c.3273G>A (p.Lys1091=) rs2131597498
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser) rs747053008
NM_000368.5(TSC1):c.3275C>G (p.Ala1092Gly) rs1845051123
NM_000368.5(TSC1):c.3276T>G (p.Ala1092=) rs2131597261
NM_000368.5(TSC1):c.3277C>G (p.Arg1093Gly)
NM_000368.5(TSC1):c.3277C>T (p.Arg1093Ter) rs1431256375
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.5(TSC1):c.3279A>C (p.Arg1093=) rs772288584
NM_000368.5(TSC1):c.3281A>G (p.Glu1094Gly) rs1588286774
NM_000368.5(TSC1):c.3288T>C (p.Phe1096=)
NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser) rs1554812687
NM_000368.5(TSC1):c.3296A>G (p.Lys1099Arg) rs876660132
NM_000368.5(TSC1):c.3301G>A (p.Glu1101Lys) rs1554812661
NM_000368.5(TSC1):c.3303G>C (p.Glu1101Asp) rs118203751
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn) rs1263464680
NM_000368.5(TSC1):c.3309G>C (p.Gln1103His) rs1474184918
NM_000368.5(TSC1):c.3311G>T (p.Cys1104Phe) rs796053467
NM_000368.5(TSC1):c.3319G>A (p.Asp1107Asn) rs1060503226
NM_000368.5(TSC1):c.3322G>T (p.Gly1108Cys) rs118203753
NM_000368.5(TSC1):c.3325A>G (p.Met1109Val) rs1845043842
NM_000368.5(TSC1):c.3326T>C (p.Met1109Thr)
NM_000368.5(TSC1):c.3329C>A (p.Thr1110Asn)
NM_000368.5(TSC1):c.3330C>T (p.Thr1110=)
NM_000368.5(TSC1):c.3332G>A (p.Ser1111Asn) rs1554812642
NM_000368.5(TSC1):c.3333del (p.Ser1111fs)
NM_000368.5(TSC1):c.3336C>T (p.Ser1112=) rs761334590
NM_000368.5(TSC1):c.3349C>G (p.Leu1117Val)
NM_000368.5(TSC1):c.334C>T (p.Leu112Phe) rs1554820276
NM_000368.5(TSC1):c.3357A>G (p.Thr1119=) rs2131592505
NM_000368.5(TSC1):c.3361C>T (p.Leu1121=) rs769478982
NM_000368.5(TSC1):c.3366C>T (p.Gly1122=)
NM_000368.5(TSC1):c.3375_3376delinsTT (p.Leu1125_Gly1126delinsPheCys)
NM_000368.5(TSC1):c.3379G>T (p.Val1127Leu) rs1845037495
NM_000368.5(TSC1):c.3387dup (p.Lys1130fs) rs1588286388
NM_000368.5(TSC1):c.3389A>G (p.Lys1130Arg) rs1588286359
NM_000368.5(TSC1):c.3395C>T (p.Pro1132Leu) rs1564469655
NM_000368.5(TSC1):c.3396C>G (p.Pro1132=) rs774980129
NM_000368.5(TSC1):c.3399G>T (p.Leu1133=) rs2131589934
NM_000368.5(TSC1):c.339G>A (p.Leu113=) rs1588355270
NM_000368.5(TSC1):c.33T>C (p.Leu11=) rs1329395556
NM_000368.5(TSC1):c.3403C>T (p.Leu1135=) rs749612772
NM_000368.5(TSC1):c.3406G>C (p.Asp1136His)
NM_000368.5(TSC1):c.3407A>G (p.Asp1136Gly) rs1588286218
NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser) rs2131589157
NM_000368.5(TSC1):c.3413C>A (p.Pro1138His) rs756449737
NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr) rs1845031012
NM_000368.5(TSC1):c.3417C>A (p.His1139Gln) rs756737864
NM_000368.5(TSC1):c.3417C>T (p.His1139=) rs756737864
NM_000368.5(TSC1):c.3422C>G (p.Ser1141Cys) rs1344689860
NM_000368.5(TSC1):c.3424C>A (p.Pro1142Thr)
NM_000368.5(TSC1):c.3424C>G (p.Pro1142Ala) rs1060503227
NM_000368.5(TSC1):c.3426C>T (p.Pro1142=) rs758286878
NM_000368.5(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.5(TSC1):c.3429G>C (p.Pro1143=) rs759431801
NM_000368.5(TSC1):c.342T>G (p.Pro114=) rs754220721
NM_000368.5(TSC1):c.3432C>T (p.Thr1144=) rs1588285980
NM_000368.5(TSC1):c.3443T>C (p.Val1148Ala)
NM_000368.5(TSC1):c.344C>A (p.Ser115Tyr)
NM_000368.5(TSC1):c.3453A>G (p.Leu1151=) rs1554812550
NM_000368.5(TSC1):c.3455A>G (p.His1152Arg) rs1554812543
NM_000368.5(TSC1):c.3456T>C (p.His1152=) rs1588285851
NM_000368.5(TSC1):c.3467A>G (p.Tyr1156Cys)
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp) rs796053451
NM_000368.5(TSC1):c.3470A>G (p.Asn1157Ser) rs1845023976
NM_000368.5(TSC1):c.347T>C (p.Leu116Ser) rs2132230247
NM_000368.5(TSC1):c.3480T>C (p.His1160=)
NM_000368.5(TSC1):c.3481C>G (p.His1161Asp)
NM_000368.5(TSC1):c.3482A>G (p.His1161Arg) rs1564469371
NM_000368.5(TSC1):c.3483T>C (p.His1161=) rs1588285797
NM_000368.5(TSC1):c.3485A>G (p.Glu1162Gly)
NM_000368.5(TSC1):c.3489C>T (p.His1163=) rs1554812527
NM_000368.5(TSC1):c.348A>G (p.Leu116=) rs755799702
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000368.5(TSC1):c.3491G>A (p.Ser1164Asn) rs2131585043
NM_000368.5(TSC1):c.356G>A (p.Cys119Tyr) rs1554820265
NM_000368.5(TSC1):c.356G>T (p.Cys119Phe) rs1554820265
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
NM_000368.5(TSC1):c.361A>C (p.Lys121Gln) rs1846807332
NM_000368.5(TSC1):c.363G>T (p.Lys121Asn) rs118203370
NM_000368.5(TSC1):c.364-3C>A
NM_000368.5(TSC1):c.364-4G>A
NM_000368.5(TSC1):c.367G>A (p.Asp123Asn)
NM_000368.5(TSC1):c.368A>C (p.Asp123Ala) rs1588351019
NM_000368.5(TSC1):c.372T>A (p.Thr124=)
NM_000368.5(TSC1):c.372T>G (p.Thr124=) rs1237342078
NM_000368.5(TSC1):c.373G>A (p.Asp125Asn)
NM_000368.5(TSC1):c.377T>C (p.Val126Ala)
NM_000368.5(TSC1):c.37A>C (p.Met13Leu)
NM_000368.5(TSC1):c.389C>A (p.Thr130Lys)
NM_000368.5(TSC1):c.389_390delinsT (p.Thr130fs) rs1554819932
NM_000368.5(TSC1):c.391A>C (p.Thr131Pro)
NM_000368.5(TSC1):c.391A>G (p.Thr131Ala) rs1564499857
NM_000368.5(TSC1):c.394G>A (p.Gly132Ser)
NM_000368.5(TSC1):c.401del (p.Leu134fs)
NM_000368.5(TSC1):c.403G>A (p.Val135Met) rs1588350708
NM_000368.5(TSC1):c.413C>T (p.Thr138Ile) rs1163879822
NM_000368.5(TSC1):c.416T>A (p.Met139Lys)
NM_000368.5(TSC1):c.419T>C (p.Leu140Pro) rs1588350642
NM_000368.5(TSC1):c.420A>G (p.Leu140=) rs1588350620
NM_000368.5(TSC1):c.423A>G (p.Pro141=) rs1846677189
NM_000368.5(TSC1):c.425T>C (p.Met142Thr) rs886042190
NM_000368.5(TSC1):c.435G>T (p.Gln145His) rs1195580419
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn) rs1554821020
NM_000368.5(TSC1):c.444A>G (p.Lys148=) rs2132189552
NM_000368.5(TSC1):c.445C>G (p.Gln149Glu) rs118203384
NM_000368.5(TSC1):c.447G>A (p.Gln149=)
NM_000368.5(TSC1):c.448C>A (p.His150Asn)
NM_000368.5(TSC1):c.454C>T (p.Leu152Phe)
NM_000368.5(TSC1):c.455T>C (p.Leu152Pro)
NM_000368.5(TSC1):c.457G>T (p.Asp153Tyr)
NM_000368.5(TSC1):c.460T>A (p.Phe154Ile) rs1485129708
NM_000368.5(TSC1):c.469A>G (p.Ile157Val) rs1846673273
NM_000368.5(TSC1):c.478C>T (p.Arg160Cys) rs1554819886
NM_000368.5(TSC1):c.47C>T (p.Ser16Phe) rs774900322
NM_000368.5(TSC1):c.483G>A (p.Leu161=)
NM_000368.5(TSC1):c.485C>A (p.Ser162Ter) rs1846671628
NM_000368.5(TSC1):c.485CAT[1] (p.Ser163del) rs1588350366
NM_000368.5(TSC1):c.486A>T (p.Ser162=)
NM_000368.5(TSC1):c.489A>T (p.Ser163=) rs118203386
NM_000368.5(TSC1):c.491G>T (p.Trp164Leu) rs118203387
NM_000368.5(TSC1):c.492G>T (p.Trp164Cys) rs1554819870
NM_000368.5(TSC1):c.508G>A (p.Gly170Ser)
NM_000368.5(TSC1):c.509-4C>G rs2132162807
NM_000368.5(TSC1):c.509-5T>G rs1846593189
NM_000368.5(TSC1):c.512A>C (p.His171Pro)
NM_000368.5(TSC1):c.514G>C (p.Val172Leu) rs952813051
NM_000368.5(TSC1):c.515T>A (p.Val172Glu) rs751092692
NM_000368.5(TSC1):c.518C>A (p.Ala173Glu)
NM_000368.5(TSC1):c.519G>A (p.Ala173=) rs768999400
NM_000368.5(TSC1):c.51C>A (p.Pro17=)
NM_000368.5(TSC1):c.523G>A (p.Val175Ile)
NM_000368.5(TSC1):c.523G>T (p.Val175Phe) rs1564498330
NM_000368.5(TSC1):c.526dup (p.Tyr176fs) rs2132161155
NM_000368.5(TSC1):c.529C>T (p.Leu177Phe) rs2132160788
NM_000368.5(TSC1):c.52A>G (p.Met18Val)
NM_000368.5(TSC1):c.541C>T (p.His181Tyr) rs1057524690
NM_000368.5(TSC1):c.542A>G (p.His181Arg) rs397515294
NM_000368.5(TSC1):c.548G>C (p.Ser183Thr) rs1554819580
NM_000368.5(TSC1):c.549T>C (p.Ser183=) rs774398322
NM_000368.5(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.5(TSC1):c.552G>A (p.Val184=) rs118203397
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr) rs1279777367
NM_000368.5(TSC1):c.556G>C (p.Ala186Pro)
NM_000368.5(TSC1):c.556G>T (p.Ala186Ser) rs1279777367
NM_000368.5(TSC1):c.558A>G (p.Ala186=) rs2132158268
NM_000368.5(TSC1):c.561C>G (p.Leu187=) rs2132158033
NM_000368.5(TSC1):c.562T>C (p.Phe188Leu)
NM_000368.5(TSC1):c.567T>A (p.His189Gln)
NM_000368.5(TSC1):c.574T>C (p.Tyr192His) rs786202831
NM_000368.5(TSC1):c.57G>A (p.Leu19=)
NM_000368.5(TSC1):c.585C>T (p.Tyr195=) rs118203407
NM_000368.5(TSC1):c.58G>A (p.Gly20Ser) rs2132295199
NM_000368.5(TSC1):c.591C>T (p.Cys197=) rs1588347154
NM_000368.5(TSC1):c.599T>C (p.Val200Ala)
NM_000368.5(TSC1):c.5C>T (p.Ala2Val) rs1588363746
NM_000368.5(TSC1):c.60T>G (p.Gly20=) rs1293816362
NM_000368.5(TSC1):c.611G>A (p.Arg204His) rs397514834
NM_000368.5(TSC1):c.621C>T (p.Tyr207=)
NM_000368.5(TSC1):c.623G>A (p.Ser208Asn)
NM_000368.5(TSC1):c.623G>C (p.Ser208Thr) rs1264782606
NM_000368.5(TSC1):c.633A>G (p.Glu211=) rs753550247
NM_000368.5(TSC1):c.637dup (p.Leu213fs) rs1114167620
NM_000368.5(TSC1):c.63G>A (p.Val21=)
NM_000368.5(TSC1):c.648T>C (p.Phe216=)
NM_000368.5(TSC1):c.648T>G (p.Phe216Leu)
NM_000368.5(TSC1):c.659T>A (p.Val220Asp)
NM_000368.5(TSC1):c.660C>G (p.Val220=) rs1588346808
NM_000368.5(TSC1):c.660C>T (p.Val220=) rs1588346808
NM_000368.5(TSC1):c.663G>A (p.Lys221=) rs868715706
NM_000368.5(TSC1):c.664-15A>G rs118203422
NM_000368.5(TSC1):c.664-4C>G rs2132138750
NM_000368.5(TSC1):c.664C>A (p.Pro222Thr)
NM_000368.5(TSC1):c.667A>G (p.Met223Val) rs2132138226
NM_000368.5(TSC1):c.674A>C (p.Glu225Ala)
NM_000368.5(TSC1):c.677A>G (p.His226Arg)
NM_000368.5(TSC1):c.683G>A (p.Arg228Gln) rs1223799508
NM_000368.5(TSC1):c.689A>G (p.His230Arg) rs1588345775
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.5(TSC1):c.696A>G (p.Glu232=) rs1588345709
NM_000368.5(TSC1):c.707G>C (p.Gly236Ala)
NM_000368.5(TSC1):c.726G>C (p.Leu242=) rs2132133780
NM_000368.5(TSC1):c.729C>T (p.Asp243=)
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.737+1G>T rs118203438
NM_000368.5(TSC1):c.737+2T>C rs1564497308
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000368.5(TSC1):c.746G>T (p.Arg249Ile) rs1588327781
NM_000368.5(TSC1):c.749_751delinsAA (p.Leu250_Glu251delinsTer)
NM_000368.5(TSC1):c.758A>C (p.His253Pro)
NM_000368.5(TSC1):c.759T>C (p.His253=)
NM_000368.5(TSC1):c.761A>T (p.Asp254Val)
NM_000368.5(TSC1):c.765T>G (p.Val255=) rs1588327624
NM_000368.5(TSC1):c.771C>A (p.Ile257=) rs1060504854
NM_000368.5(TSC1):c.771C>G (p.Ile257Met) rs1060504854
NM_000368.5(TSC1):c.779C>T (p.Ala260Val) rs758617649
NM_000368.5(TSC1):c.782A>C (p.Lys261Thr) rs371225009
NM_000368.5(TSC1):c.792G>A (p.Leu264=) rs1257538409
NM_000368.5(TSC1):c.792G>C (p.Leu264=)
NM_000368.5(TSC1):c.79G>A (p.Ala27Thr)
NM_000368.5(TSC1):c.801A>G (p.Thr267=) rs2132002475
NM_000368.5(TSC1):c.806C>A (p.Ala269Asp) rs1347033062
NM_000368.5(TSC1):c.807C>T (p.Ala269=)
NM_000368.5(TSC1):c.812A>G (p.Tyr271Cys)
NM_000368.5(TSC1):c.812_813del (p.Ser270_Tyr271insTer) rs118203451
NM_000368.5(TSC1):c.816A>G (p.Glu272=) rs2132001195
NM_000368.5(TSC1):c.818A>T (p.Asp273Val)
NM_000368.5(TSC1):c.81T>A (p.Ala27=)
NM_000368.5(TSC1):c.820G>A (p.Gly274Ser) rs1389310342
NM_000368.5(TSC1):c.822C>G (p.Gly274=)
NM_000368.5(TSC1):c.824A>G (p.Tyr275Cys) rs1554817636
NM_000368.5(TSC1):c.827C>T (p.Ser276Phe) rs1846012269
NM_000368.5(TSC1):c.829G>A (p.Val277Met)
NM_000368.5(TSC1):c.831G>C (p.Val277=) rs1588327162
NM_000368.5(TSC1):c.840A>C (p.Gln280His) rs1171852730
NM_000368.5(TSC1):c.840A>T (p.Gln280His)
NM_000368.5(TSC1):c.852C>T (p.Arg284=) rs769706203
NM_000368.5(TSC1):c.856C>G (p.Pro286Ala) rs1047485135
NM_000368.5(TSC1):c.856C>T (p.Pro286Ser) rs1047485135
NM_000368.5(TSC1):c.860A>G (p.His287Arg)
NM_000368.5(TSC1):c.870C>G (p.Ala290=) rs779155575
NM_000368.5(TSC1):c.870C>T (p.Ala290=) rs779155575
NM_000368.5(TSC1):c.874G>A (p.Val292Ile) rs1588326825
NM_000368.5(TSC1):c.875T>C (p.Val292Ala)
NM_000368.5(TSC1):c.876C>G (p.Val292=) rs116756594
NM_000368.5(TSC1):c.878C>G (p.Thr293Ser) rs756681916
NM_000368.5(TSC1):c.878C>T (p.Thr293Ile) rs756681916
NM_000368.5(TSC1):c.879C>T (p.Thr293=) rs1554817584
NM_000368.5(TSC1):c.881C>A (p.Thr294Asn) rs878853969
NM_000368.5(TSC1):c.881C>T (p.Thr294Ile) rs878853969
NM_000368.5(TSC1):c.882C>T (p.Thr294=) rs1588326689
NM_000368.5(TSC1):c.883A>G (p.Ser295Gly) rs1588326679
NM_000368.5(TSC1):c.885C>T (p.Ser295=)
NM_000368.5(TSC1):c.886C>T (p.Pro296Ser) rs750890263
NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser)
NM_000368.5(TSC1):c.891T>C (p.Tyr297=) rs118203461
NM_000368.5(TSC1):c.892G>A (p.Ala298Thr) rs1846004547
NM_000368.5(TSC1):c.893C>G (p.Ala298Gly)
NM_000368.5(TSC1):c.897C>T (p.Asp299=)
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala) rs796053456
NM_000368.5(TSC1):c.899C>A (p.Thr300Lys)
NM_000368.5(TSC1):c.8A>G (p.Gln3Arg)
NM_000368.5(TSC1):c.901C>G (p.Gln301Glu)
NM_000368.5(TSC1):c.902A>G (p.Gln301Arg) rs1389512342
NM_000368.5(TSC1):c.902A>T (p.Gln301Leu)
NM_000368.5(TSC1):c.903G>A (p.Gln301=) rs762200890
NM_000368.5(TSC1):c.903G>T (p.Gln301His)
NM_000368.5(TSC1):c.913+2T>C
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg) rs118203468
NM_000368.5(TSC1):c.914-4T>G rs2131982922
NM_000368.5(TSC1):c.915G>A (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.915G>T (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.916T>C (p.Cys306Arg) rs34876281
NM_000368.5(TSC1):c.918T>C (p.Cys306=) rs34610255
NM_000368.5(TSC1):c.920C>T (p.Ala307Val) rs572611259
NM_000368.5(TSC1):c.921T>C (p.Ala307=) rs397514826
NM_000368.5(TSC1):c.921T>G (p.Ala307=)
NM_000368.5(TSC1):c.923C>A (p.Thr308Asn) rs1554817432
NM_000368.5(TSC1):c.931C>A (p.Pro311Thr) rs1332186256
NM_000368.5(TSC1):c.931C>G (p.Pro311Ala) rs1332186256
NM_000368.5(TSC1):c.938C>T (p.Ser313Phe) rs766317920
NM_000368.5(TSC1):c.93G>T (p.Glu31Asp) rs781059342
NM_000368.5(TSC1):c.949C>T (p.Leu317=) rs1588324686
NM_000368.5(TSC1):c.951G>C (p.Leu317=)
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000368.5(TSC1):c.95A>G (p.Asn32Ser) rs1222555421
NM_000368.5(TSC1):c.965_966delinsCT (p.Met322Thr) rs1588324568
NM_000368.5(TSC1):c.968C>T (p.Pro323Leu) rs1588324535
NM_000368.5(TSC1):c.969A>G (p.Pro323=) rs1418510093
NM_000368.5(TSC1):c.96C>A (p.Asn32Lys) rs1588363242
NM_000368.5(TSC1):c.96C>T (p.Asn32=) rs1588363242
NM_000368.5(TSC1):c.975G>A (p.Gln325=) rs1554817398
NM_000368.5(TSC1):c.975G>T (p.Gln325His) rs1554817398
NM_000368.5(TSC1):c.976C>T (p.Leu326=) rs1554817396
NM_000368.5(TSC1):c.978A>G (p.Leu326=) rs1060504862
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe) rs1847031671
NM_000368.5(TSC1):c.988_989del (p.Leu330fs) rs118203477
NM_000368.5(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_000368.5(TSC1):c.996C>T (p.Ser332=) rs1588324281
NM_000368.5(TSC1):c.997C>T (p.Pro333Ser) rs1057520994

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