NM_000368.5(TSC1):c.503A>C (p.Lys168Thr)
|
rs1007335343
|
0.00003
|
NM_000368.5(TSC1):c.106+4A>G
|
rs373075566
|
0.00001
|
NM_000368.5(TSC1):c.1263+5G>A
|
rs767745683
|
0.00001
|
NM_000368.5(TSC1):c.1800G>C (p.Gln600His)
|
rs1254353359
|
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.2369A>G (p.Tyr790Cys)
|
rs749111647
|
0.00001
|
NM_000368.5(TSC1):c.2726T>C (p.Ile909Thr)
|
rs1374339026
|
0.00001
|
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser)
|
rs1263094349
|
0.00001
|
NM_000368.5(TSC1):c.3062C>T (p.Pro1021Leu)
|
rs1845082733
|
0.00001
|
NM_000368.5(TSC1):c.312G>T (p.Lys104Asn)
|
rs1554820281
|
0.00001
|
NM_000368.5(TSC1):c.3151C>T (p.Pro1051Ser)
|
rs1210523479
|
0.00001
|
NM_000368.5(TSC1):c.3274G>A (p.Ala1092Thr)
|
rs747053008
|
0.00001
|
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu)
|
rs751398082
|
0.00001
|
NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr)
|
rs1470270925
|
0.00001
|
NM_000368.5(TSC1):c.371C>G (p.Thr124Ser)
|
rs747251435
|
0.00001
|
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys)
|
rs1060503209
|
0.00001
|
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn)
|
rs984306144
|
0.00001
|
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu)
|
rs878853968
|
0.00001
|
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile)
|
rs370916731
|
0.00001
|
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile)
|
rs1845955010
|
|
NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu)
|
rs1588324106
|
|
NM_000368.5(TSC1):c.1030-5C>G
|
rs1588323218
|
|
NM_000368.5(TSC1):c.107-1G>C
|
|
|
NM_000368.5(TSC1):c.1076C>T (p.Pro359Leu)
|
|
|
NM_000368.5(TSC1):c.1145G>A (p.Gly382Asp)
|
rs1460150475
|
|
NM_000368.5(TSC1):c.1186C>T (p.Pro396Ser)
|
rs1845904238
|
|
NM_000368.5(TSC1):c.1256C>A (p.Pro419His)
|
rs878853959
|
|
NM_000368.5(TSC1):c.1264-2A>G
|
|
|
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu)
|
rs587778721
|
|
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg)
|
rs762688935
|
|
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr)
|
rs1554816213
|
|
NM_000368.5(TSC1):c.1465A>T (p.Ile489Phe)
|
rs1564482602
|
|
NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr)
|
|
|
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp)
|
rs1243886871
|
|
NM_000368.5(TSC1):c.1715_1722dup (p.Ser575fs)
|
rs1588309702
|
|
NM_000368.5(TSC1):c.173T>C (p.Leu58Ser)
|
|
|
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu)
|
rs1588309097
|
|
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg)
|
rs751247705
|
|
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn)
|
rs1588309025
|
|
NM_000368.5(TSC1):c.1868A>G (p.Lys623Arg)
|
|
|
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala)
|
rs886038287
|
|
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr)
|
rs1588308288
|
|
NM_000368.5(TSC1):c.1966G>A (p.Gly656Arg)
|
|
|
NM_000368.5(TSC1):c.2012G>T (p.Ser671Ile)
|
rs1845546239
|
|
NM_000368.5(TSC1):c.203A>T (p.His68Leu)
|
|
|
NM_000368.5(TSC1):c.2042-2A>G
|
rs118203628
|
|
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del)
|
rs397514799
|
|
NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg)
|
rs1845511359
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2077G>A (p.Asp693Asn)
|
|
|
NM_000368.5(TSC1):c.2093T>C (p.Leu698Pro)
|
|
|
NM_000368.5(TSC1):c.2102A>G (p.Gln701Arg)
|
|
|
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer)
|
rs118203645
|
|
NM_000368.5(TSC1):c.2117G>A (p.Arg706His)
|
rs1588304158
|
|
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln)
|
rs1060503207
|
|
NM_000368.5(TSC1):c.2173A>G (p.Lys725Glu)
|
|
|
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr)
|
rs1845494587
|
|
NM_000368.5(TSC1):c.2185C>G (p.Leu729Val)
|
|
|
NM_000368.5(TSC1):c.2191G>A (p.Glu731Lys)
|
|
|
NM_000368.5(TSC1):c.2208+2T>A
|
rs1064794132
|
|
NM_000368.5(TSC1):c.2208+7A>T
|
|
|
NM_000368.5(TSC1):c.225G>C (p.Arg75Ser)
|
|
|
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp)
|
rs1264839312
|
|
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu)
|
rs118203675
|
|
NM_000368.5(TSC1):c.2329del (p.Ser777fs)
|
rs397514780
|
|
NM_000368.5(TSC1):c.2470A>C (p.Thr824Pro)
|
|
|
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala)
|
rs1554814639
|
|
NM_000368.5(TSC1):c.247G>C (p.Ala83Pro)
|
rs76667066
|
|
NM_000368.5(TSC1):c.2559_2562del (p.Leu853fs)
|
rs118203711
|
|
NM_000368.5(TSC1):c.2572G>A (p.Val858Ile)
|
rs1845329722
|
|
NM_000368.5(TSC1):c.2635A>G (p.Met879Val)
|
rs778416424
|
|
NM_000368.5(TSC1):c.2640G>T (p.Met880Ile)
|
rs1218889799
|
|
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser)
|
rs751362258
|
|
NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs)
|
|
|
NM_000368.5(TSC1):c.2975+1G>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.3012G>A (p.Met1004Ile)
|
rs751970451
|
|
NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp)
|
rs1176815392
|
|
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer)
|
rs1588287475
|
|
NM_000368.5(TSC1):c.3190_3192del (p.Glu1064del)
|
|
|
NM_000368.5(TSC1):c.3224C>G (p.Pro1075Arg)
|
|
|
NM_000368.5(TSC1):c.323C>T (p.Ser108Phe)
|
|
|
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser)
|
rs747053008
|
|
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln)
|
rs550526986
|
|
NM_000368.5(TSC1):c.3292A>G (p.Asn1098Asp)
|
|
|
NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr)
|
rs1845031012
|
|
NM_000368.5(TSC1):c.3487C>T (p.His1163Tyr)
|
rs2131585152
|
|
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
|
|
|
NM_000368.5(TSC1):c.396C>T (p.Gly132=)
|
rs368922726
|
|
NM_000368.5(TSC1):c.475G>A (p.Gly159Ser)
|
rs1846672854
|
|
NM_000368.5(TSC1):c.496C>G (p.Leu166Val)
|
|
|
NM_000368.5(TSC1):c.507A>G (p.Pro169=)
|
rs1846669296
|
|
NM_000368.5(TSC1):c.526T>C (p.Tyr176His)
|
|
|
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr)
|
rs1279777367
|
|
NM_000368.5(TSC1):c.611G>A (p.Arg204His)
|
rs397514834
|
|
NM_000368.5(TSC1):c.664-43C>G
|
|
|
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)
|
rs118203427
|
|
NM_000368.5(TSC1):c.796C>G (p.Pro266Ala)
|
|
|
NM_000368.5(TSC1):c.845C>T (p.Ser282Leu)
|
rs118203459
|
|
NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser)
|
|
|
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe)
|
rs1847031671
|
|