ClinVar Miner

Variants with conflicting interpretations studied for Tuberous sclerosis 1

Coded as:
Minimum review status of the submission for Tuberous sclerosis 1: Collection method of the submission for Tuberous sclerosis 1:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
2881 663 0 576 319 0 9 825

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Tuberous sclerosis 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 31 3 0 0
likely pathogenic 30 0 5 0 0
uncertain significance 3 7 0 118 61
likely benign 0 0 249 0 513
benign 0 0 143 541 0

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Tuberous sclerosis 1 3301 408 0 539 146 0 7 660
Tuberous sclerosis syndrome 0 482 0 267 265 0 2 502

All variants with conflicting interpretations #

Total variants: 825
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08157
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00731
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00346
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000368.5(TSC1):c.273G>A (p.Ser91=) rs115097221 0.00070
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln) rs118203543 0.00064
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00042
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro) rs377598226 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.3387C>T (p.Ala1129=) rs200200869 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.1936A>G (p.Met646Val) rs145741748 0.00023
NM_000368.5(TSC1):c.2653C>T (p.Arg885Trp) rs118203723 0.00023
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp) rs118203483 0.00022
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000368.5(TSC1):c.1333+14G>A rs371733518 0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_000368.5(TSC1):c.1333+13C>T rs118203516 0.00014
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000368.5(TSC1):c.2209-3T>C rs368309229 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.1700C>T (p.Ala567Val) rs397514880 0.00012
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 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.2425G>C (p.Glu809Gln) rs118203692 0.00011
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.1438+6G>A rs118203530 0.00009
NM_000368.5(TSC1):c.2423C>T (p.Ala808Val) rs756514375 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.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.2209-9C>G rs118203660 0.00007
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.625A>G (p.Met209Val) rs754980229 0.00006
NM_000368.5(TSC1):c.1047A>G (p.Pro349=) rs118203492 0.00005
NM_000368.5(TSC1):c.1916G>T (p.Gly639Val) rs372583166 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.3045C>T (p.Asn1015=) rs759047948 0.00005
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839 0.00005
NM_000368.5(TSC1):c.402G>A (p.Leu134=) rs147125501 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.110G>A (p.Arg37His) rs750441497 0.00004
NM_000368.5(TSC1):c.1264-9T>C rs1399728684 0.00004
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg) rs762688935 0.00004
NM_000368.5(TSC1):c.1332A>G (p.Ser444=) rs773003016 0.00004
NM_000368.5(TSC1):c.1884A>G (p.Leu628=) rs1038140620 0.00004
NM_000368.5(TSC1):c.1976C>T (p.Ala659Val) rs118203609 0.00004
NM_000368.5(TSC1):c.2115G>A (p.Glu705=) rs142662480 0.00004
NM_000368.5(TSC1):c.2325C>T (p.Leu775=) rs1005558276 0.00004
NM_000368.5(TSC1):c.2922C>T (p.Leu974=) rs769389702 0.00004
NM_000368.5(TSC1):c.912T>C (p.Tyr304=) rs118203466 0.00004
NM_000368.5(TSC1):c.942G>A (p.Thr314=) rs144208203 0.00004
NM_000368.5(TSC1):c.1007G>A (p.Arg336Gln) rs397514808 0.00003
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe) rs1461609607 0.00003
NM_000368.5(TSC1):c.114C>G (p.Gly38=) rs776158461 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.1334-16C>T rs373774544 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.1506C>T (p.Gly502=) rs772337076 0.00003
NM_000368.5(TSC1):c.1584C>T (p.Gly528=) rs149439187 0.00003
NM_000368.5(TSC1):c.1585G>A (p.Ala529Thr) rs751125011 0.00003
NM_000368.5(TSC1):c.1635T>C (p.Pro545=) rs372284519 0.00003
NM_000368.5(TSC1):c.1685C>G (p.Ala562Gly) rs377185303 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.1922C>A (p.Pro641His) rs397514863 0.00003
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly) rs939275328 0.00003
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys) rs202241429 0.00003
NM_000368.5(TSC1):c.211-18G>C rs751712867 0.00003
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln) rs1336228562 0.00003
NM_000368.5(TSC1):c.2478G>C (p.Leu826=) rs149719514 0.00003
NM_000368.5(TSC1):c.2677A>C (p.Ser893Arg) rs1396314595 0.00003
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) rs76801599 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.3129C>T (p.Ser1043=) rs201192125 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.379G>A (p.Val127Ile) rs372215435 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.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.1030-14T>A rs180810228 0.00002
NM_000368.5(TSC1):c.111T>C (p.Arg37=) rs966292723 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.1273A>G (p.Met425Val) rs753199284 0.00002
NM_000368.5(TSC1):c.1328G>T (p.Gly443Val) rs1489175329 0.00002
NM_000368.5(TSC1):c.1631G>A (p.Gly544Glu) rs770570830 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.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.1934C>T (p.Pro645Leu) rs1269162063 0.00002
NM_000368.5(TSC1):c.2034C>T (p.His678=) rs201392975 0.00002
NM_000368.5(TSC1):c.2077G>C (p.Asp693His) rs397514800 0.00002
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp) rs1264839312 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.2882A>G (p.Glu961Gly) rs760762170 0.00002
NM_000368.5(TSC1):c.2901C>T (p.Gly967=) rs774634388 0.00002
NM_000368.5(TSC1):c.2924T>A (p.Leu975Gln) rs549467159 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.3112A>G (p.Ser1038Gly) rs768443391 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.3249T>C (p.Ser1083=) rs761673589 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.370A>G (p.Thr124Ala) rs745871522 0.00002
NM_000368.5(TSC1):c.509-13G>A rs746269100 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.593A>G (p.Asn198Ser) rs577983115 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 0.00002
NM_000368.5(TSC1):c.696A>G (p.Glu232=) rs1588345709 0.00002
NM_000368.5(TSC1):c.720T>G (p.His240Gln) rs779872953 0.00002
NM_000368.5(TSC1):c.762T>C (p.Asp254=) rs780005416 0.00002
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu) rs148756522 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.1002G>A (p.Ser334=) rs200820603 0.00001
NM_000368.5(TSC1):c.1015A>T (p.Thr339Ser) rs570809282 0.00001
NM_000368.5(TSC1):c.1017T>C (p.Thr339=) rs1845953694 0.00001
NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu) rs1588324106 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.1054G>A (p.Val352Ile) rs796053447 0.00001
NM_000368.5(TSC1):c.1058G>A (p.Cys353Tyr) rs876660024 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.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.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.1200C>G (p.Leu400=) rs767514820 0.00001
NM_000368.5(TSC1):c.1206T>C (p.His402=) rs1845902050 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.1224C>T (p.His408=) rs781006583 0.00001
NM_000368.5(TSC1):c.1233C>T (p.Leu411=) rs1588321365 0.00001
NM_000368.5(TSC1):c.1238A>G (p.Gln413Arg) rs1060503218 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+6_1263+8dup rs751182565 0.00001
NM_000368.5(TSC1):c.1290A>G (p.Pro430=) rs759914505 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.1439-10T>A rs1060504852 0.00001
NM_000368.5(TSC1):c.1473A>C (p.Thr491=) rs1588311152 0.00001
NM_000368.5(TSC1):c.1489G>C (p.Val497Leu) rs946491568 0.00001
NM_000368.5(TSC1):c.1539A>G (p.Pro513=) rs755055358 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.1571C>T (p.Ser524Phe) rs1276296733 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.1596C>T (p.Asn532=) rs759461471 0.00001
NM_000368.5(TSC1):c.1626G>A (p.Lys542=) rs756935981 0.00001
NM_000368.5(TSC1):c.1636G>T (p.Asp546Tyr) rs774671298 0.00001
NM_000368.5(TSC1):c.1640C>T (p.Thr547Ile) rs769040084 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.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.1802C>T (p.Pro601Leu) rs543077026 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.1816C>T (p.His606Tyr) rs1343881428 0.00001
NM_000368.5(TSC1):c.1818T>A (p.His606Gln) rs758769193 0.00001
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe) rs1554815795 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.186C>T (p.Thr62=) rs1554820640 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.1975G>A (p.Ala659Thr) rs914628341 0.00001
NM_000368.5(TSC1):c.1997A>G (p.Lys666Arg) rs1419720341 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.2033A>T (p.His678Leu) rs745413532 0.00001
NM_000368.5(TSC1):c.2038G>A (p.Gly680Arg) rs757322533 0.00001
NM_000368.5(TSC1):c.2039G>A (p.Gly680Glu) rs118203623 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.2092C>T (p.Leu698=) rs551954460 0.00001
NM_000368.5(TSC1):c.210+5T>C rs753035149 0.00001
NM_000368.5(TSC1):c.211-15C>G rs1459098612 0.00001
NM_000368.5(TSC1):c.2145G>C (p.Arg715=) rs1379334013 0.00001
NM_000368.5(TSC1):c.2148C>T (p.Asn716=) rs1554815274 0.00001
NM_000368.5(TSC1):c.2172C>A (p.Ile724=) rs1845495899 0.00001
NM_000368.5(TSC1):c.2195A>G (p.His732Arg) rs878853964 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.2307C>T (p.Asp769=) rs876658671 0.00001
NM_000368.5(TSC1):c.2312T>C (p.Met771Thr) rs760208449 0.00001
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg) rs796053460 0.00001
NM_000368.5(TSC1):c.2392-16A>G rs758374143 0.00001
NM_000368.5(TSC1):c.23G>C (p.Gly8Ala) rs1269896419 0.00001
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln) rs761281095 0.00001
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val) rs751128287 0.00001
NM_000368.5(TSC1):c.2485A>C (p.Ser829Arg) rs118203699 0.00001
NM_000368.5(TSC1):c.2520G>A (p.Ser840=) rs547498792 0.00001
NM_000368.5(TSC1):c.2542T>C (p.Leu848=) rs780394011 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.2649C>G (p.Ala883=) rs1279318276 0.00001
NM_000368.5(TSC1):c.2658A>G (p.Lys886=) rs368212910 0.00001
NM_000368.5(TSC1):c.2679C>T (p.Ser893=) rs374311456 0.00001
NM_000368.5(TSC1):c.2683G>A (p.Val895Ile) rs576476807 0.00001
NM_000368.5(TSC1):c.270C>T (p.Leu90=) rs142325036 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.272C>T (p.Ser91Leu) rs118203361 0.00001
NM_000368.5(TSC1):c.2745C>T (p.His915=) rs1392904165 0.00001
NM_000368.5(TSC1):c.2766T>G (p.Leu922=) rs546119844 0.00001
NM_000368.5(TSC1):c.2776C>G (p.Gln926Glu) rs397514879 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.2813+5C>T rs1060503223 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.287T>C (p.Val96Ala) rs370243092 0.00001
NM_000368.5(TSC1):c.2880G>A (p.Leu960=) rs1845126730 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.289A>G (p.Ile97Val) rs138541569 0.00001
NM_000368.5(TSC1):c.28C>T (p.Leu10Phe) rs1399717425 0.00001
NM_000368.5(TSC1):c.2910G>A (p.Glu970=) rs762627301 0.00001
NM_000368.5(TSC1):c.2926A>G (p.Lys976Glu) rs796053448 0.00001
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) rs397514859 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.2975+6A>T rs1060503220 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.3000C>G (p.Cys1000Trp) rs552217429 0.00001
NM_000368.5(TSC1):c.3009C>T (p.Ser1003=) rs2131615637 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.3029A>G (p.Glu1010Gly) rs1267230279 0.00001
NM_000368.5(TSC1):c.3032C>A (p.Ala1011Glu) rs796053449 0.00001
NM_000368.5(TSC1):c.3047G>A (p.Gly1016Asp) rs1313165721 0.00001
NM_000368.5(TSC1):c.3059C>T (p.Thr1020Ile) rs1060503214 0.00001
NM_000368.5(TSC1):c.3076G>A (p.Ala1026Thr) rs533565295 0.00001
NM_000368.5(TSC1):c.3079C>T (p.Arg1027Trp) rs375394001 0.00001
NM_000368.5(TSC1):c.3120C>T (p.Ser1040=) rs1289954163 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.3177C>G (p.Phe1059Leu) rs753263747 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.3278G>A (p.Arg1093Gln) rs550526986 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.3296A>G (p.Lys1099Arg) rs876660132 0.00001
NM_000368.5(TSC1):c.3300C>T (p.Ser1100=) rs754282309 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.3402C>T (p.Asn1134=) rs769266225 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.3416A>C (p.His1139Pro) rs764018144 0.00001
NM_000368.5(TSC1):c.3419C>T (p.Pro1140Leu) rs751126355 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.3455A>G (p.His1152Arg) rs1554812543 0.00001
NM_000368.5(TSC1):c.375C>T (p.Asp125=) rs560863078 0.00001
NM_000368.5(TSC1):c.376G>A (p.Val126Ile) rs397514843 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.391A>G (p.Thr131Ala) rs1564499857 0.00001
NM_000368.5(TSC1):c.395G>C (p.Gly132Ala) rs397514784 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.45C>T (p.Asp15=) rs1457262106 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.519G>A (p.Ala173=) rs768999400 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.598G>A (p.Val200Ile) rs118203410 0.00001
NM_000368.5(TSC1):c.60T>G (p.Gly20=) rs1293816362 0.00001
NM_000368.5(TSC1):c.61G>T (p.Val21Leu) rs1392596033 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.738-10C>A rs768158324 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.826T>C (p.Ser276Pro) rs774009225 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.884G>C (p.Ser295Thr) rs1415705359 0.00001
NM_000368.5(TSC1):c.898A>G (p.Thr300Ala) rs796053456 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.938C>T (p.Ser313Phe) rs766317920 0.00001
NM_000368.5(TSC1):c.944C>G (p.Ser315Cys) rs1332978347 0.00001
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp) rs535868591 0.00001
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00001
NM_000368.5(TSC1):c.960A>G (p.Leu320=) rs770183315 0.00001
NM_000368.5(TSC1):c.997C>T (p.Pro333Ser) rs1057520994 0.00001
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile) rs1845955010
NM_000368.5(TSC1):c.1005A>G (p.Thr335=) rs753091213
NM_000368.5(TSC1):c.1005dup (p.Arg336fs) rs2131975092
NM_000368.5(TSC1):c.1006C>A (p.Arg336=) rs118203483
NM_000368.5(TSC1):c.1024C>T (p.Pro342Ser) rs1304291054
NM_000368.5(TSC1):c.1026A>G (p.Pro342=) rs1588324071
NM_000368.5(TSC1):c.1029+1G>C rs118203485
NM_000368.5(TSC1):c.1029+3A>G rs1554817334
NM_000368.5(TSC1):c.1030-14T>C rs180810228
NM_000368.5(TSC1):c.1059T>C (p.Cys353=) rs1216537041
NM_000368.5(TSC1):c.1063A>G (p.Met355Val) rs1302832406
NM_000368.5(TSC1):c.107-1G>A rs1064793494
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser) rs1309560054
NM_000368.5(TSC1):c.1107G>A (p.Leu369=) rs909737447
NM_000368.5(TSC1):c.1113C>A (p.His371Gln) rs771217333
NM_000368.5(TSC1):c.1128C>G (p.Val376=) rs1419093686
NM_000368.5(TSC1):c.114C>T (p.Gly38=) rs776158461
NM_000368.5(TSC1):c.1167A>G (p.Gly389=) rs876660723
NM_000368.5(TSC1):c.1167A>T (p.Gly389=) rs876660723
NM_000368.5(TSC1):c.1179C>T (p.Thr393=) rs2131944935
NM_000368.5(TSC1):c.1194C>G (p.Ala398=) rs1060504861
NM_000368.5(TSC1):c.1209G>T (p.Ser403=) rs141184479
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.5(TSC1):c.1236C>T (p.Pro412=) rs1588321355
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys) rs77464996
NM_000368.5(TSC1):c.1256C>A (p.Pro419His) rs878853959
NM_000368.5(TSC1):c.1257C>A (p.Pro419=) rs369642207
NM_000368.5(TSC1):c.1270A>C (p.Arg424=) rs1845728736
NM_000368.5(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.5(TSC1):c.129C>T (p.Asn43=) rs2132270030
NM_000368.5(TSC1):c.12A>G (p.Gln4=) rs1588363707
NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg) rs760470520
NM_000368.5(TSC1):c.1329A>T (p.Gly443=) rs2131878742
NM_000368.5(TSC1):c.1332A>C (p.Ser444=) rs773003016
NM_000368.5(TSC1):c.1333+6del rs1060503212
NM_000368.5(TSC1):c.1333+9T>A rs747629498
NM_000368.5(TSC1):c.1338G>A (p.Glu446=) rs1410493156
NM_000368.5(TSC1):c.1340C>T (p.Pro447Leu) rs772868048
NM_000368.5(TSC1):c.1344T>C (p.Pro448=) rs530908428
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000368.5(TSC1):c.1364C>T (p.Thr455Ile)
NM_000368.5(TSC1):c.1368A>G (p.Leu456=) rs397514856
NM_000368.5(TSC1):c.1383G>A (p.Gly461=) rs779981609
NM_000368.5(TSC1):c.1407A>G (p.Glu469=) rs1272855447
NM_000368.5(TSC1):c.1416T>C (p.Ser472=) rs2131862866
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr) rs1554816213
NM_000368.5(TSC1):c.1434A>G (p.Glu478=) rs1588312602
NM_000368.5(TSC1):c.1439-15C>G rs763538221
NM_000368.5(TSC1):c.1439-20_1439-9del rs1064792996
NM_000368.5(TSC1):c.1439-7C>A rs1588311354
NM_000368.5(TSC1):c.1443A>G (p.Ala481=) rs1554816081
NM_000368.5(TSC1):c.144T>G (p.Tyr48Ter) rs2132269028
NM_000368.5(TSC1):c.1464G>A (p.Glu488=) rs1588311193
NM_000368.5(TSC1):c.1467C>T (p.Ile489=) rs2131849203
NM_000368.5(TSC1):c.1470C>T (p.Thr490=)
NM_000368.5(TSC1):c.1476A>C (p.Ala492=) rs1554816067
NM_000368.5(TSC1):c.1488T>C (p.Pro496=) rs2131847678
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.5(TSC1):c.1503A>C (p.Gly501=) rs201810746
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.1528G>A (p.Asp510Asn) rs779206386
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.1536C>T (p.Leu512=) rs1264512400
NM_000368.5(TSC1):c.1549C>A (p.Arg517=) rs1243886871
NM_000368.5(TSC1):c.1551G>A (p.Arg517=)
NM_000368.5(TSC1):c.1560C>T (p.His520=)
NM_000368.5(TSC1):c.1563G>A (p.Ser521=) rs1554816005
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.1572C>G (p.Ser524=) rs397514810
NM_000368.5(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del) rs766376606
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr) rs765149885
NM_000368.5(TSC1):c.1611C>T (p.His537=) rs898271020
NM_000368.5(TSC1):c.1614C>T (p.Ser538=) rs878853961
NM_000368.5(TSC1):c.1623C>T (p.Asp541=)
NM_000368.5(TSC1):c.1662C>A (p.Pro554=)
NM_000368.5(TSC1):c.1671G>T (p.Leu557=) rs2131833685
NM_000368.5(TSC1):c.1679G>A (p.Gly560Asp) rs1395737285
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.1710G>A (p.Arg570=) rs777386797
NM_000368.5(TSC1):c.1713A>G (p.Glu571=) rs1588309781
NM_000368.5(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.5(TSC1):c.171A>T (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.1734C>T (p.Thr578=) rs1251871091
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623
NM_000368.5(TSC1):c.1746T>G (p.Thr582=) rs2131827290
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.176A>T (p.His59Leu) rs757837986
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.1773G>C (p.Pro591=) rs146578402
NM_000368.5(TSC1):c.1773G>T (p.Pro591=) rs146578402
NM_000368.5(TSC1):c.1806C>T (p.Pro602=) rs771521648
NM_000368.5(TSC1):c.1809G>C (p.Pro603=) rs112434645
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=) rs2131821679
NM_000368.5(TSC1):c.1830G>A (p.Val610=) rs2131820356
NM_000368.5(TSC1):c.1833A>G (p.Ala611=) rs1240702401
NM_000368.5(TSC1):c.1848C>G (p.Ala616=) rs752286096
NM_000368.5(TSC1):c.1851T>C (p.His617=) rs2131818787
NM_000368.5(TSC1):c.1860C>T (p.Val620=) rs1588308756
NM_000368.5(TSC1):c.1863C>T (p.Ile621=) rs898222579
NM_000368.5(TSC1):c.186C>G (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.1884_1885delinsGC (p.Lys629Gln) rs1554815756
NM_000368.5(TSC1):c.1893A>T (p.Ala631=) rs2131815302
NM_000368.5(TSC1):c.18T>C (p.Asn6=) rs2132296958
NM_000368.5(TSC1):c.1905A>G (p.Thr635=) rs2131814347
NM_000368.5(TSC1):c.1916G>A (p.Gly639Asp) rs372583166
NM_000368.5(TSC1):c.1917T>C (p.Gly639=) rs775816560
NM_000368.5(TSC1):c.1944G>A (p.Val648=) rs1554815720
NM_000368.5(TSC1):c.1950C>T (p.Asp650=) rs1845608638
NM_000368.5(TSC1):c.1974C>G (p.Asp658Glu) rs118203608
NM_000368.5(TSC1):c.1977G>T (p.Ala659=) rs35958226
NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter) rs1845604585
NM_000368.5(TSC1):c.1997+1G>A rs118203610
NM_000368.5(TSC1):c.1998-2A>G rs1057518217
NM_000368.5(TSC1):c.1998-7T>G rs1845549017
NM_000368.5(TSC1):c.2010C>T (p.Pro670=) rs1588305958
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.2031C>A (p.Thr677=) rs1060504855
NM_000368.5(TSC1):c.2041+5del rs1564479424
NM_000368.5(TSC1):c.2042-5A>G rs118203627
NM_000368.5(TSC1):c.2057A>G (p.Asp686Gly) rs786201465
NM_000368.5(TSC1):c.2094G>T (p.Leu698=) rs2131770442
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.211-11dup rs397514775
NM_000368.5(TSC1):c.211-19dup rs2539080129
NM_000368.5(TSC1):c.2111A>G (p.Tyr704Cys) rs752054698
NM_000368.5(TSC1):c.2117G>A (p.Arg706His) rs1588304158
NM_000368.5(TSC1):c.2127G>A (p.Arg709=) rs2131765779
NM_000368.5(TSC1):c.2136T>C (p.His712=) rs1554815286
NM_000368.5(TSC1):c.2149A>C (p.Arg717=) rs1057523194
NM_000368.5(TSC1):c.214C>T (p.Leu72Phe) rs759183842
NM_000368.5(TSC1):c.2151G>A (p.Arg717=) rs1301689988
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.2178A>G (p.Ala726=) rs1588303718
NM_000368.5(TSC1):c.217T>C (p.Leu73=) rs2132239282
NM_000368.5(TSC1):c.2184T>C (p.Ala728=)
NM_000368.5(TSC1):c.219G>A (p.Leu73=) rs1588355863
NM_000368.5(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2218T>C (p.Leu740=) rs2131741485
NM_000368.5(TSC1):c.2220G>A (p.Leu740=) rs1588302073
NM_000368.5(TSC1):c.2235G>A (p.Lys745=) rs753265422
NM_000368.5(TSC1):c.2240T>C (p.Ile747Thr) rs1392095786
NM_000368.5(TSC1):c.2272C>A (p.Gln758Lys) rs397514783
NM_000368.5(TSC1):c.2286T>C (p.Asn762=) rs1554815010
NM_000368.5(TSC1):c.232G>T (p.Glu78Ter) rs1588355838
NM_000368.5(TSC1):c.2343G>A (p.Gln781=) rs2131731368
NM_000368.5(TSC1):c.2369A>G (p.Tyr790Cys) rs749111647
NM_000368.5(TSC1):c.2370C>T (p.Tyr790=) rs1845442273
NM_000368.5(TSC1):c.2380C>A (p.Gln794Lys) rs781371665
NM_000368.5(TSC1):c.2382G>A (p.Gln794=)
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met) rs1331635112
NM_000368.5(TSC1):c.2394G>A (p.Thr798=) rs1060504860
NM_000368.5(TSC1):c.2410A>C (p.Arg804=)
NM_000368.5(TSC1):c.2412G>A (p.Arg804=) rs1554814676
NM_000368.5(TSC1):c.2421T>A (p.Ile807=) rs754248661
NM_000368.5(TSC1):c.2431C>T (p.Arg811Trp) rs397514814
NM_000368.5(TSC1):c.2448G>A (p.Lys816=) rs1588299142
NM_000368.5(TSC1):c.2457C>T (p.Asn819=) rs1471536624
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.2472T>G (p.Thr824=) rs762811821
NM_000368.5(TSC1):c.2478G>A (p.Leu826=) rs149719514
NM_000368.5(TSC1):c.2499A>G (p.Gln833=) rs1554814615
NM_000368.5(TSC1):c.2502+1G>T rs2131702478
NM_000368.5(TSC1):c.2503-11T>G rs201568350
NM_000368.5(TSC1):c.2503-15A>T
NM_000368.5(TSC1):c.2508A>C (p.Ser836=) rs1554814456
NM_000368.5(TSC1):c.2511C>T (p.Asn837=) rs1554814448
NM_000368.5(TSC1):c.2514T>C (p.Ser838=) rs786203259
NM_000368.5(TSC1):c.2520G>C (p.Ser840=) rs547498792
NM_000368.5(TSC1):c.2523C>T (p.Val841=) rs397514825
NM_000368.5(TSC1):c.2527C>T (p.Gln843Ter)
NM_000368.5(TSC1):c.252C>T (p.Ala84=) rs2132236617
NM_000368.5(TSC1):c.2532G>A (p.Gln844=) rs2131688269
NM_000368.5(TSC1):c.2565T>A (p.Leu855=) rs1845331038
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys) rs1463772907
NM_000368.5(TSC1):c.2571G>A (p.Glu857=)
NM_000368.5(TSC1):c.2580G>A (p.Glu860=) rs1845329120
NM_000368.5(TSC1):c.2607G>A (p.Lys869=) rs1845327520
NM_000368.5(TSC1):c.2613A>G (p.Ser871=) rs1031508405
NM_000368.5(TSC1):c.2622A>G (p.Thr874=) rs2131684460
NM_000368.5(TSC1):c.2625+367A>G rs1564474542
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-3dup rs1554813639
NM_000368.5(TSC1):c.2626-4del rs5901000
NM_000368.5(TSC1):c.2635A>G (p.Met879Val) rs778416424
NM_000368.5(TSC1):c.264C>T (p.Ser88=) rs2132235789
NM_000368.5(TSC1):c.2664A>G (p.Leu888=) rs2131638076
NM_000368.5(TSC1):c.2665_2666delinsAT (p.Glu889Ile) rs587778724
NM_000368.5(TSC1):c.2667A>G (p.Glu889=) rs1554813546
NM_000368.5(TSC1):c.2682T>C (p.His894=) rs771479673
NM_000368.5(TSC1):c.2688C>T (p.Leu896=) rs2131636756
NM_000368.5(TSC1):c.2691G>A (p.Gln897=) rs372915963
NM_000368.5(TSC1):c.270C>G (p.Leu90=) rs142325036
NM_000368.5(TSC1):c.2718A>G (p.Gln906=) rs1845144230
NM_000368.5(TSC1):c.2722C>A (p.Arg908=) rs748845915
NM_000368.5(TSC1):c.2724G>C (p.Arg908=)
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.273G>T (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.2755A>C (p.Lys919Gln) rs1319954878
NM_000368.5(TSC1):c.2760C>T (p.Asp920=) rs1226490074
NM_000368.5(TSC1):c.2772G>A (p.Leu924=)
NM_000368.5(TSC1):c.2778G>A (p.Gln926=) rs1554813423
NM_000368.5(TSC1):c.2787T>A (p.Tyr929Ter) rs753980869
NM_000368.5(TSC1):c.2787T>C (p.Tyr929=) rs753980869
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.5(TSC1):c.2808G>A (p.Gln936=) rs1588290331
NM_000368.5(TSC1):c.2814-18C>T rs1588290161
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.2868G>A (p.Gln956=) rs2131626958
NM_000368.5(TSC1):c.2874T>C (p.Phe958=) rs2131626672
NM_000368.5(TSC1):c.2878T>C (p.Leu960=) rs766383986
NM_000368.5(TSC1):c.2883G>A (p.Glu961=) rs2131626309
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.2916T>C (p.Asp972=) rs775179927
NM_000368.5(TSC1):c.2933T>C (p.Leu978Pro) 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.2949_2957del (p.985AAE[1]) rs767902029
NM_000368.5(TSC1):c.295C>T (p.Leu99=) rs2132233679
NM_000368.5(TSC1):c.2973A>G (p.Glu991=) rs2538473355
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.2997G>A (p.Gly999=) rs1437222540
NM_000368.5(TSC1):c.3008C>T (p.Ser1003Phe) rs1554812991
NM_000368.5(TSC1):c.3018G>A (p.Gly1006=) rs910475358
NM_000368.5(TSC1):c.3018G>T (p.Gly1006=) rs910475358
NM_000368.5(TSC1):c.3024T>C (p.Asn1008=) rs142954164
NM_000368.5(TSC1):c.303A>G (p.Pro101=) rs2132233153
NM_000368.5(TSC1):c.3042C>T (p.His1014=) rs1394343524
NM_000368.5(TSC1):c.3055A>G (p.Lys1019Glu) rs1317622700
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.3066G>A (p.Arg1022=) rs1588287932
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.3074G>A (p.Ser1025Asn) rs1845081620
NM_000368.5(TSC1):c.3086G>A (p.Ser1029Asn) rs796053450
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile) rs796053450
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[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.3125G>A (p.Ser1042Asn) rs148931779
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer) rs1588287475
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.3141C>A (p.Thr1047=) rs892228756
NM_000368.5(TSC1):c.3159C>T (p.His1053=) rs778413037
NM_000368.5(TSC1):c.3165G>A (p.Arg1055=) rs2131604362
NM_000368.5(TSC1):c.3177C>T (p.Phe1059=) rs753263747
NM_000368.5(TSC1):c.3183T>C (p.Ser1061=) rs2131603096
NM_000368.5(TSC1):c.318G>A (p.Lys106=) rs2132232268
NM_000368.5(TSC1):c.3192G>A (p.Glu1064=) rs2131602580
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.5(TSC1):c.3215C>T (p.Ala1072Val) rs779369226
NM_000368.5(TSC1):c.3216C>G (p.Ala1072=) rs118203747
NM_000368.5(TSC1):c.3225C>T (p.Pro1075=) rs2131600409
NM_000368.5(TSC1):c.3228C>A (p.Thr1076=) rs140622357
NM_000368.5(TSC1):c.3243T>A (p.Leu1081=) rs2131599256
NM_000368.5(TSC1):c.3244C>G (p.Pro1082Ala) rs1060503191
NM_000368.5(TSC1):c.3246C>T (p.Pro1082=) rs2131599043
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.3276T>G (p.Ala1092=) rs2131597261
NM_000368.5(TSC1):c.3279A>C (p.Arg1093=) rs772288584
NM_000368.5(TSC1):c.327A>G (p.Gln109=) rs2132231769
NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser) rs1554812687
NM_000368.5(TSC1):c.3301G>A (p.Glu1101Lys) rs1554812661
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn) rs1263464680
NM_000368.5(TSC1):c.330A>T (p.Ala110=) rs2132231516
NM_000368.5(TSC1):c.3315T>C (p.Asp1105=) rs2131594829
NM_000368.5(TSC1):c.3336C>T (p.Ser1112=) rs761334590
NM_000368.5(TSC1):c.3394C>T (p.Pro1132Ser) rs1249897804
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.33T>C (p.Leu11=) rs1329395556
NM_000368.5(TSC1):c.3403C>T (p.Leu1135=) rs749612772
NM_000368.5(TSC1):c.3423T>C (p.Ser1141=) rs1564469544
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>G (p.Thr1144=) rs1588285980
NM_000368.5(TSC1):c.3432C>T (p.Thr1144=) rs1588285980
NM_000368.5(TSC1):c.3453A>G (p.Leu1151=) rs1554812550
NM_000368.5(TSC1):c.3459C>T (p.Ile1153=) rs1290663446
NM_000368.5(TSC1):c.3469A>G (p.Asn1157Asp) rs796053451
NM_000368.5(TSC1):c.3471T>C (p.Asn1157=) rs2538420158
NM_000368.5(TSC1):c.3486A>T (p.Glu1162Asp) rs749746550
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.349C>T (p.Leu117=) rs1242311755
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro) rs118203368
NM_000368.5(TSC1):c.363+1G>T rs118203372
NM_000368.5(TSC1):c.363+668G>T rs2132219029
NM_000368.5(TSC1):c.364-2A>G rs1846685279
NM_000368.5(TSC1):c.396C>T (p.Gly132=) rs368922726
NM_000368.5(TSC1):c.406_418delinsGT (p.Leu136fs) rs1846678053
NM_000368.5(TSC1):c.415A>G (p.Met139Val) rs780442112
NM_000368.5(TSC1):c.423A>G (p.Pro141=) rs1846677189
NM_000368.5(TSC1):c.42G>A (p.Leu14=) rs762233181
NM_000368.5(TSC1):c.432A>C (p.Pro144=) rs1366888701
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=) rs2132189396
NM_000368.5(TSC1):c.455T>C (p.Leu152Pro) rs755791846
NM_000368.5(TSC1):c.460T>A (p.Phe154Ile) rs1485129708
NM_000368.5(TSC1):c.477C>T (p.Gly159=) rs2132187799
NM_000368.5(TSC1):c.483G>A (p.Leu161=) rs1846671974
NM_000368.5(TSC1):c.489A>G (p.Ser163=) rs118203386
NM_000368.5(TSC1):c.489A>T (p.Ser163=) rs118203386
NM_000368.5(TSC1):c.48C>A (p.Ser16=)
NM_000368.5(TSC1):c.508+2T>C rs2132185885
NM_000368.5(TSC1):c.508G>A (p.Gly170Ser) rs2132185994
NM_000368.5(TSC1):c.509-1G>A rs1554819620
NM_000368.5(TSC1):c.516G>A (p.Val172=) rs1419763219
NM_000368.5(TSC1):c.522A>G (p.Glu174=) rs2132161619
NM_000368.5(TSC1):c.525C>G (p.Val175=) rs2132161260
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.549T>C (p.Ser183=) rs774398322
NM_000368.5(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr) 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.569G>A (p.Arg190His) rs118203402
NM_000368.5(TSC1):c.576T>C (p.Tyr192=) rs118203406
NM_000368.5(TSC1):c.585C>T (p.Tyr195=) rs118203407
NM_000368.5(TSC1):c.611G>A (p.Arg204His) rs397514834
NM_000368.5(TSC1):c.633A>G (p.Glu211=) rs753550247
NM_000368.5(TSC1):c.639G>A (p.Leu213=) rs2132151091
NM_000368.5(TSC1):c.647T>C (p.Phe216Ser) rs118203416
NM_000368.5(TSC1):c.657G>A (p.Val219=) rs755910789
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.663+1G>A rs118203419
NM_000368.5(TSC1):c.664-15A>G rs118203422
NM_000368.5(TSC1):c.664-1G>A rs118203423
NM_000368.5(TSC1):c.664-3T>C
NM_000368.5(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.5(TSC1):c.675G>A (p.Glu225=) rs1846548662
NM_000368.5(TSC1):c.683G>A (p.Arg228Gln) rs1223799508
NM_000368.5(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.5(TSC1):c.693G>A (p.Pro231=) rs749311040
NM_000368.5(TSC1):c.711C>T (p.Ser237=) rs1588345678
NM_000368.5(TSC1):c.720T>C (p.His240=) rs779872953
NM_000368.5(TSC1):c.724C>T (p.Leu242=) rs118203432
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.5(TSC1):c.737G>T (p.Arg246Met) rs118203436
NM_000368.5(TSC1):c.756T>G (p.Thr252=) rs2132006065
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.786C>T (p.Ile262=) rs779015004
NM_000368.5(TSC1):c.792G>A (p.Leu264=) rs1257538409
NM_000368.5(TSC1):c.807C>T (p.Ala269=) rs766961309
NM_000368.5(TSC1):c.816A>G (p.Glu272=) rs2132001195
NM_000368.5(TSC1):c.81T>C (p.Ala27=) rs1588363327
NM_000368.5(TSC1):c.851G>T (p.Arg284Leu) rs151309813
NM_000368.5(TSC1):c.856C>G (p.Pro286Ala) rs1047485135
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.873T>C (p.Asp291=) rs753928162
NM_000368.5(TSC1):c.876C>G (p.Val292=) rs116756594
NM_000368.5(TSC1):c.879C>T (p.Thr293=) rs1554817584
NM_000368.5(TSC1):c.882C>T (p.Thr294=) rs1588326689
NM_000368.5(TSC1):c.885C>T (p.Ser295=) rs973115696
NM_000368.5(TSC1):c.891T>C (p.Tyr297=) rs118203461
NM_000368.5(TSC1):c.902A>G (p.Gln301Arg) rs1389512342
NM_000368.5(TSC1):c.906T>C (p.Asn302=) rs2131993782
NM_000368.5(TSC1):c.90A>G (p.Lys30=) rs1847032608
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.931C>A (p.Pro311Thr) rs1332186256
NM_000368.5(TSC1):c.936C>T (p.Tyr312=) rs118203472
NM_000368.5(TSC1):c.951G>A (p.Leu317=) rs1554817419
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000368.5(TSC1):c.957G>A (p.Leu319=) rs1845961446
NM_000368.5(TSC1):c.965_966delinsCT (p.Met322Thr) rs1588324568
NM_000368.5(TSC1):c.965_966inv (p.Met322Thr)
NM_000368.5(TSC1):c.969A>G (p.Pro323=) rs1418510093
NM_000368.5(TSC1):c.975G>A (p.Gln325=) rs1554817398
NM_000368.5(TSC1):c.976C>T (p.Leu326=) rs1554817396
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe) rs1847031671
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter) rs1554817388
NM_000368.5(TSC1):c.996C>T (p.Ser332=) rs1588324281
NM_000368.5(TSC1):c.999A>G (p.Pro333=) rs1192409248

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.