| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2088308_2088468del | CA2697549443 | TSC2 | c.*3591_*3631del c.5089_5129del c.5239_5279del c.*5755_*5795del c.*7991_*8031del c.5242_5282del c.5173_5213del c.5041_5081del c.5074_5114del c.1465_1505del n.3124_3164del c.3896_3936del c.5101_5141del n.839_879del c.5044_5084del c.5110_5150del c.5035_5075del n.2890_2930del c.5167_5207del c.5113_5153del c.5128_5168del c.5038_5078del c.5163_5203del n.3326_3366del c.5236_5276del n.4057_4097del n.2494_2534del n.2465_2505del n.2355_2395del c.4897_4937del c.*4409_*4449del c.4933_4973del n.2965_3005del c.1424_1464del n.2357_2397del c.5296_5336del c.5293_5333del c.5185_5225del c.5164_5204del c.4510_4550del c.5458_5498del c.5206_5246del c.3952_3992del | |
| 16 | g.2088359_2088453dup | CA973770759 | TSC2 | c.*3608+34_*3616dup c.5106+34_5114dup c.5256+34_5264dup c.*5772+34_*5780dup c.*8008+34_*8016dup c.5259+34_5267dup c.5190+34_5198dup c.5058+34_5066dup c.5091+34_5099dup c.1482+34_1490dup n.3141+34_3149dup c.3913+34_3921dup c.5118+34_5126dup n.856+34_864dup c.5061+34_5069dup c.5127+34_5135dup c.5052+34_5060dup n.2907+34_2915dup c.5184+34_5192dup c.5130+34_5138dup c.5145+34_5153dup c.5055+34_5063dup c.5180+34_5188dup n.3343+34_3351dup c.5253+34_5261dup n.4074+34_4082dup n.2511+34_2519dup n.2482+34_2490dup n.2372+34_2380dup c.4914+34_4922dup c.*4426+34_*4434dup c.4950+34_4958dup n.2982+34_2990dup c.1441+34_1449dup n.2374+34_2382dup c.5313+34_5321dup c.5310+34_5318dup c.5202+34_5210dup c.5181+34_5189dup c.4527+34_4535dup c.5475+34_5483dup c.5223+34_5231dup c.3969+34_3977dup | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2088373_2088460delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC | CA2202032953 | TSC2 | c.*3608+48_*3623delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5106+48_5121delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5256+48_5271delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.*5772+48_*5787delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.*8008+48_*8023delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5259+48_5274delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5190+48_5205delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5058+48_5073delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5091+48_5106delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.1482+48_1497delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC n.3141+48_3156delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.3913+48_3928delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5118+48_5133delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC n.856+48_871delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5061+48_5076delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5127+48_5142delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5052+48_5067delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC n.2907+48_2922delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5184+48_5199delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5130+48_5145delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5145+48_5160delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5055+48_5070delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5180+48_5195delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC n.3343+48_3358delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5253+48_5268delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC n.4074+48_4089delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC n.2511+48_2526delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC n.2482+48_2497delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC n.2372+48_2387delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.4914+48_4929delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.*4426+48_*4441delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.4950+48_4965delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC n.2982+48_2997delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.1441+48_1456delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC n.2374+48_2389delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5313+48_5328delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5310+48_5325delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5202+48_5217delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5181+48_5196delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.4527+48_4542delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5475+48_5490delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.5223+48_5238delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC c.3969+48_3984delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCC | |
| 16 | g.2088375_2088461del | CA973770765 | TSC2 | c.*3608+50_*3624del c.5106+50_5122del c.5256+50_5272del c.*5772+50_*5788del c.*8008+50_*8024del c.5259+50_5275del c.5190+50_5206del c.5058+50_5074del c.5091+50_5107del c.1482+50_1498del n.3141+50_3157del c.3913+50_3929del c.5118+50_5134del n.856+50_872del c.5061+50_5077del c.5127+50_5143del c.5052+50_5068del n.2907+50_2923del c.5184+50_5200del c.5130+50_5146del c.5145+50_5161del c.5055+50_5071del c.5180+50_5196del n.3343+50_3359del c.5253+50_5269del n.4074+50_4090del n.2511+50_2527del n.2482+50_2498del n.2372+50_2388del c.4914+50_4930del c.*4426+50_*4442del c.4950+50_4966del n.2982+50_2998del c.1441+50_1457del n.2374+50_2390del c.5313+50_5329del c.5310+50_5326del c.5202+50_5218del c.5181+50_5197del c.4527+50_4543del c.5475+50_5491del c.5223+50_5239del c.3969+50_3985del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2088426_2088455delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG | CA2202033117 | TSC2 | c.*3609-20_*3618delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5107-20_5116delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5257-20_5266delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.*5773-20_*5782delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.*8009-20_*8018delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5260-20_5269delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5191-20_5200delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5059-20_5068delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5092-20_5101delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.1483-20_1492delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.3142-20_3151delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.3914-20_3923delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5119-20_5128delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.857-20_866delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5062-20_5071delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5128-20_5137delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5053-20_5062delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.2908-20_2917delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5185-20_5194delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5131-20_5140delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5146-20_5155delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5056-20_5065delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5181-20_5190delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.3344-20_3353delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5254-20_5263delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.4075-20_4084delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.2512-20_2521delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.2483-20_2492delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.2373-20_2382delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.4915-20_4924delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.*4427-20_*4436delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.4951-20_4960delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.2983-20_2992delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.1442-20_1451delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.2375-20_2384delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5314-20_5323delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5311-20_5320delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5203-20_5212delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5182-20_5191delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.4528-20_4537delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5476-20_5485delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5224-20_5233delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.3970-20_3979delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG | |
| 16 | g.2088436_2088464del | CA7828402 | TSC2 | c.*3609-10_*3627del c.5107-10_5125del c.5257-10_5275del c.*5773-10_*5791del c.*8009-10_*8027del c.5260-10_5278del c.5191-10_5209del c.5059-10_5077del c.5092-10_5110del c.1483-10_1501del n.3142-10_3160del c.3914-10_3932del c.5119-10_5137del n.857-10_875del c.5062-10_5080del c.5128-10_5146del c.5053-10_5071del n.2908-10_2926del c.5185-10_5203del c.5131-10_5149del c.5146-10_5164del c.5056-10_5074del c.5181-10_5199del n.3344-10_3362del c.5254-10_5272del n.4075-10_4093del n.2512-10_2530del n.2483-10_2501del n.2373-10_2391del c.4915-10_4933del c.*4427-10_*4445del c.4951-10_4969del n.2983-10_3001del c.1442-10_1460del n.2375-10_2393del c.5314-10_5332del c.5311-10_5329del c.5203-10_5221del c.5182-10_5200del c.4528-10_4546del c.5476-10_5494del c.5224-10_5242del c.3970-10_3988del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2088436_2088465delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA | CA2202033183 | TSC2 | c.*3609-10_*3628delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5107-10_5126delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5257-10_5276delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.*5773-10_*5792delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.*8009-10_*8028delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5260-10_5279delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5191-10_5210delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5059-10_5078delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5092-10_5111delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.1483-10_1502delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.3142-10_3161delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.3914-10_3933delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5119-10_5138delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.857-10_876delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5062-10_5081delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5128-10_5147delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5053-10_5072delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.2908-10_2927delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5185-10_5204delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5131-10_5150delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5146-10_5165delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5056-10_5075delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5181-10_5200delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.3344-10_3363delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5254-10_5273delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.4075-10_4094delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.2512-10_2531delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.2483-10_2502delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.2373-10_2392delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.4915-10_4934delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.*4427-10_*4446delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.4951-10_4970delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.2983-10_3002delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.1442-10_1461delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.2375-10_2394delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5314-10_5333delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5311-10_5330delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5203-10_5222delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5182-10_5201delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.4528-10_4547delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5476-10_5495delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5224-10_5243delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.3970-10_3989delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA | |
| 16 | g.2088437_2088465del | CA16615202 | TSC2 | c.*3609-9_*3628del c.5107-9_5126del c.5257-9_5276del c.*5773-9_*5792del c.*8009-9_*8028del c.5260-9_5279del c.5191-9_5210del c.5059-9_5078del c.5092-9_5111del c.1483-9_1502del n.3142-9_3161del c.3914-9_3933del c.5119-9_5138del n.857-9_876del c.5062-9_5081del c.5128-9_5147del c.5053-9_5072del n.2908-9_2927del c.5185-9_5204del c.5131-9_5150del c.5146-9_5165del c.5056-9_5075del c.5181-9_5200del n.3344-9_3363del c.5254-9_5273del n.4075-9_4094del n.2512-9_2531del n.2483-9_2502del n.2373-9_2392del c.4915-9_4934del c.*4427-9_*4446del c.4951-9_4970del n.2983-9_3002del c.1442-9_1461del n.2375-9_2394del c.5314-9_5333del c.5311-9_5330del c.5203-9_5222del c.5182-9_5201del c.4528-9_4547del c.5476-9_5495del c.5224-9_5243del c.3970-9_3989del | ClinVar dbSNP gnomAD v4 |
| 16 | g.2088445G>A | CA394314998 | TSC2 | c.*3609-1G>A (n.*3609-1G>A) c.5107-1G>A (n.5107-1G>A) c.5257-1G>A (n.5257-1G>A) c.*5773-1G>A (n.*5773-1G>A) c.*8009-1G>A (n.*8009-1G>A) c.5260-1G>A (n.5260-1G>A) c.5191-1G>A (n.5191-1G>A) c.5059-1G>A (n.5059-1G>A) c.5092-1G>A (n.5092-1G>A) c.1483-1G>A n.3142-1G>A c.3914-1G>A c.5119-1G>A (n.5119-1G>A) n.857-1G>A c.5062-1G>A (n.5062-1G>A) c.5128-1G>A (n.5128-1G>A) c.5053-1G>A (n.5053-1G>A) n.2908-1G>A c.5185-1G>A (n.5185-1G>A) c.5131-1G>A (n.5131-1G>A) c.5146-1G>A (n.5146-1G>A) c.5056-1G>A (n.5056-1G>A) c.5181-1G>A n.3344-1G>A c.5254-1G>A (n.5254-1G>A) n.4075-1G>A n.2512-1G>A n.2483-1G>A n.2373-1G>A c.4915-1G>A (n.4915-1G>A) c.*4427-1G>A (n.*4427-1G>A) c.4951-1G>A (n.4951-1G>A) n.2983-1G>A c.1442-1G>A n.2375-1G>A c.5314-1G>A (n.5314-1G>A) c.5311-1G>A (n.5311-1G>A) c.5203-1G>A (n.5203-1G>A) c.5182-1G>A (n.5182-1G>A) c.4528-1G>A (n.4528-1G>A) c.5476-1G>A (n.5476-1G>A) c.5224-1G>A (n.5224-1G>A) c.3970-1G>A (n.3970-1G>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2088445G>C | CA16043000 | TSC2 | c.*3609-1G>C (n.*3609-1G>C) c.5107-1G>C (n.5107-1G>C) c.5257-1G>C (n.5257-1G>C) c.*5773-1G>C (n.*5773-1G>C) c.*8009-1G>C (n.*8009-1G>C) c.5260-1G>C (n.5260-1G>C) c.5191-1G>C (n.5191-1G>C) c.5059-1G>C (n.5059-1G>C) c.5092-1G>C (n.5092-1G>C) c.1483-1G>C n.3142-1G>C c.3914-1G>C c.5119-1G>C (n.5119-1G>C) n.857-1G>C c.5062-1G>C (n.5062-1G>C) c.5128-1G>C (n.5128-1G>C) c.5053-1G>C (n.5053-1G>C) n.2908-1G>C c.5185-1G>C (n.5185-1G>C) c.5131-1G>C (n.5131-1G>C) c.5146-1G>C (n.5146-1G>C) c.5056-1G>C (n.5056-1G>C) c.5181-1G>C n.3344-1G>C c.5254-1G>C (n.5254-1G>C) n.4075-1G>C n.2512-1G>C n.2483-1G>C n.2373-1G>C c.4915-1G>C (n.4915-1G>C) c.*4427-1G>C (n.*4427-1G>C) c.4951-1G>C (n.4951-1G>C) n.2983-1G>C c.1442-1G>C n.2375-1G>C c.5314-1G>C (n.5314-1G>C) c.5311-1G>C (n.5311-1G>C) c.5203-1G>C (n.5203-1G>C) c.5182-1G>C (n.5182-1G>C) c.4528-1G>C (n.4528-1G>C) c.5476-1G>C (n.5476-1G>C) c.5224-1G>C (n.5224-1G>C) c.3970-1G>C (n.3970-1G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2088445G= | CA2202033216 | TSC2 | c.*3609-1G= (n.*3609-1G=) c.5107-1G= (n.5107-1G=) c.5257-1G= (n.5257-1G=) c.*5773-1G= (n.*5773-1G=) c.*8009-1G= (n.*8009-1G=) c.5260-1G= (n.5260-1G=) c.5191-1G= (n.5191-1G=) c.5059-1G= (n.5059-1G=) c.5092-1G= (n.5092-1G=) c.1483-1G= n.3142-1G= c.3914-1G= c.5119-1G= (n.5119-1G=) n.857-1G= c.5062-1G= (n.5062-1G=) c.5128-1G= (n.5128-1G=) c.5053-1G= (n.5053-1G=) n.2908-1G= c.5185-1G= (n.5185-1G=) c.5131-1G= (n.5131-1G=) c.5146-1G= (n.5146-1G=) c.5056-1G= (n.5056-1G=) c.5181-1G= n.3344-1G= c.5254-1G= (n.5254-1G=) n.4075-1G= n.2512-1G= n.2483-1G= n.2373-1G= c.4915-1G= (n.4915-1G=) c.*4427-1G= (n.*4427-1G=) c.4951-1G= (n.4951-1G=) n.2983-1G= c.1442-1G= n.2375-1G= c.5314-1G= (n.5314-1G=) c.5311-1G= (n.5311-1G=) c.5203-1G= (n.5203-1G=) c.5182-1G= (n.5182-1G=) c.4528-1G= (n.4528-1G=) c.5476-1G= (n.5476-1G=) c.5224-1G= (n.5224-1G=) c.3970-1G= (n.3970-1G=) | |
| 16 | g.2088445G>T | CA394315003 | TSC2 | c.*3609-1G>T (n.*3609-1G>T) c.5107-1G>T (n.5107-1G>T) c.5257-1G>T (n.5257-1G>T) c.*5773-1G>T (n.*5773-1G>T) c.*8009-1G>T (n.*8009-1G>T) c.5260-1G>T (n.5260-1G>T) c.5191-1G>T (n.5191-1G>T) c.5059-1G>T (n.5059-1G>T) c.5092-1G>T (n.5092-1G>T) c.1483-1G>T n.3142-1G>T c.3914-1G>T c.5119-1G>T (n.5119-1G>T) n.857-1G>T c.5062-1G>T (n.5062-1G>T) c.5128-1G>T (n.5128-1G>T) c.5053-1G>T (n.5053-1G>T) n.2908-1G>T c.5185-1G>T (n.5185-1G>T) c.5131-1G>T (n.5131-1G>T) c.5146-1G>T (n.5146-1G>T) c.5056-1G>T (n.5056-1G>T) c.5181-1G>T n.3344-1G>T c.5254-1G>T (n.5254-1G>T) n.4075-1G>T n.2512-1G>T n.2483-1G>T n.2373-1G>T c.4915-1G>T (n.4915-1G>T) c.*4427-1G>T (n.*4427-1G>T) c.4951-1G>T (n.4951-1G>T) n.2983-1G>T c.1442-1G>T n.2375-1G>T c.5314-1G>T (n.5314-1G>T) c.5311-1G>T (n.5311-1G>T) c.5203-1G>T (n.5203-1G>T) c.5182-1G>T (n.5182-1G>T) c.4528-1G>T (n.4528-1G>T) c.5476-1G>T (n.5476-1G>T) c.5224-1G>T (n.5224-1G>T) c.3970-1G>T (n.3970-1G>T) | |
| 16 | g.2088446A>C | CA394315007 | TSC2 | c.*3609A>C (n.*3609A>C) c.5107A>C (p.Ile1703Leu) c.5257A>C (p.Ile1753Leu) c.*5773A>C (n.*5773A>C) c.*8009A>C (n.*8009A>C) c.5260A>C (p.Ile1754Leu) c.5191A>C (p.Ile1731Leu) c.5059A>C (p.Ile1687Leu) c.5092A>C (p.Ile1698Leu) c.1483A>C n.3142A>C c.3914A>C c.5119A>C (p.Ile1707Leu) n.857A>C c.5062A>C (p.Ile1688Leu) c.5128A>C (p.Ile1710Leu) c.5053A>C (p.Ile1685Leu) n.2908A>C c.5185A>C (p.Ile1729Leu) c.5131A>C (p.Ile1711Leu) c.5146A>C (p.Ile1716Leu) c.5056A>C (p.Ile1686Leu) c.5181A>C n.3344A>C c.5254A>C (p.Ile1752Leu) n.4075A>C n.2512A>C n.2483A>C n.2373A>C c.4915A>C (p.Ile1639Leu) c.*4427A>C (n.*4427A>C) c.4951A>C (p.Ile1651Leu) n.2983A>C c.1442A>C n.2375A>C c.5314A>C (p.Ile1772Leu) c.5311A>C (p.Ile1771Leu) c.5203A>C (p.Ile1735Leu) c.5182A>C (p.Ile1728Leu) c.4528A>C (p.Ile1510Leu) c.5476A>C (p.Ile1826Leu) c.5224A>C (p.Ile1742Leu) c.3970A>C (p.Ile1324Leu) | |
| 16 | g.2088446A>G | CA394315009 | TSC2 | c.*3609A>G (n.*3609A>G) c.5107A>G (p.Ile1703Val) c.5257A>G (p.Ile1753Val) c.*5773A>G (n.*5773A>G) c.*8009A>G (n.*8009A>G) c.5260A>G (p.Ile1754Val) c.5191A>G (p.Ile1731Val) c.5059A>G (p.Ile1687Val) c.5092A>G (p.Ile1698Val) c.1483A>G n.3142A>G c.3914A>G c.5119A>G (p.Ile1707Val) n.857A>G c.5062A>G (p.Ile1688Val) c.5128A>G (p.Ile1710Val) c.5053A>G (p.Ile1685Val) n.2908A>G c.5185A>G (p.Ile1729Val) c.5131A>G (p.Ile1711Val) c.5146A>G (p.Ile1716Val) c.5056A>G (p.Ile1686Val) c.5181A>G n.3344A>G c.5254A>G (p.Ile1752Val) n.4075A>G n.2512A>G n.2483A>G n.2373A>G c.4915A>G (p.Ile1639Val) c.*4427A>G (n.*4427A>G) c.4951A>G (p.Ile1651Val) n.2983A>G c.1442A>G n.2375A>G c.5314A>G (p.Ile1772Val) c.5311A>G (p.Ile1771Val) c.5203A>G (p.Ile1735Val) c.5182A>G (p.Ile1728Val) c.4528A>G (p.Ile1510Val) c.5476A>G (p.Ile1826Val) c.5224A>G (p.Ile1742Val) c.3970A>G (p.Ile1324Val) | ClinVar dbSNP |
| 16 | g.2088446A>T | CA394315005 | TSC2 | c.*3609A>T (n.*3609A>T) c.5107A>T (p.Ile1703Phe) c.5257A>T (p.Ile1753Phe) c.*5773A>T (n.*5773A>T) c.*8009A>T (n.*8009A>T) c.5260A>T (p.Ile1754Phe) c.5191A>T (p.Ile1731Phe) c.5059A>T (p.Ile1687Phe) c.5092A>T (p.Ile1698Phe) c.1483A>T n.3142A>T c.3914A>T c.5119A>T (p.Ile1707Phe) n.857A>T c.5062A>T (p.Ile1688Phe) c.5128A>T (p.Ile1710Phe) c.5053A>T (p.Ile1685Phe) n.2908A>T c.5185A>T (p.Ile1729Phe) c.5131A>T (p.Ile1711Phe) c.5146A>T (p.Ile1716Phe) c.5056A>T (p.Ile1686Phe) c.5181A>T n.3344A>T c.5254A>T (p.Ile1752Phe) n.4075A>T n.2512A>T n.2483A>T n.2373A>T c.4915A>T (p.Ile1639Phe) c.*4427A>T (n.*4427A>T) c.4951A>T (p.Ile1651Phe) n.2983A>T c.1442A>T n.2375A>T c.5314A>T (p.Ile1772Phe) c.5311A>T (p.Ile1771Phe) c.5203A>T (p.Ile1735Phe) c.5182A>T (p.Ile1728Phe) c.4528A>T (p.Ile1510Phe) c.5476A>T (p.Ile1826Phe) c.5224A>T (p.Ile1742Phe) c.3970A>T (p.Ile1324Phe) | |
| 16 | g.2088447T>A | CA394315012 | TSC2 | c.*3610T>A (n.*3610T>A) c.5108T>A (p.Ile1703Asn) c.5258T>A (p.Ile1753Asn) c.*5774T>A (n.*5774T>A) c.*8010T>A (n.*8010T>A) c.5261T>A (p.Ile1754Asn) c.5192T>A (p.Ile1731Asn) c.5060T>A (p.Ile1687Asn) c.5093T>A (p.Ile1698Asn) c.1484T>A n.3143T>A c.3915T>A c.5120T>A (p.Ile1707Asn) n.858T>A c.5063T>A (p.Ile1688Asn) c.5129T>A (p.Ile1710Asn) c.5054T>A (p.Ile1685Asn) n.2909T>A c.5186T>A (p.Ile1729Asn) c.5132T>A (p.Ile1711Asn) c.5147T>A (p.Ile1716Asn) c.5057T>A (p.Ile1686Asn) c.5182T>A n.3345T>A c.5255T>A (p.Ile1752Asn) n.4076T>A n.2513T>A n.2484T>A n.2374T>A c.4916T>A (p.Ile1639Asn) c.*4428T>A (n.*4428T>A) c.4952T>A (p.Ile1651Asn) n.2984T>A c.1443T>A n.2376T>A c.5315T>A (p.Ile1772Asn) c.5312T>A (p.Ile1771Asn) c.5204T>A (p.Ile1735Asn) c.5183T>A (p.Ile1728Asn) c.4529T>A (p.Ile1510Asn) c.5477T>A (p.Ile1826Asn) c.5225T>A (p.Ile1742Asn) c.3971T>A (p.Ile1324Asn) | |
| 16 | g.2088447T>C | CA394315014 | TSC2 | c.*3610T>C (n.*3610T>C) c.5108T>C (p.Ile1703Thr) c.5258T>C (p.Ile1753Thr) c.*5774T>C (n.*5774T>C) c.*8010T>C (n.*8010T>C) c.5261T>C (p.Ile1754Thr) c.5192T>C (p.Ile1731Thr) c.5060T>C (p.Ile1687Thr) c.5093T>C (p.Ile1698Thr) c.1484T>C n.3143T>C c.3915T>C c.5120T>C (p.Ile1707Thr) n.858T>C c.5063T>C (p.Ile1688Thr) c.5129T>C (p.Ile1710Thr) c.5054T>C (p.Ile1685Thr) n.2909T>C c.5186T>C (p.Ile1729Thr) c.5132T>C (p.Ile1711Thr) c.5147T>C (p.Ile1716Thr) c.5057T>C (p.Ile1686Thr) c.5182T>C n.3345T>C c.5255T>C (p.Ile1752Thr) n.4076T>C n.2513T>C n.2484T>C n.2374T>C c.4916T>C (p.Ile1639Thr) c.*4428T>C (n.*4428T>C) c.4952T>C (p.Ile1651Thr) n.2984T>C c.1443T>C n.2376T>C c.5315T>C (p.Ile1772Thr) c.5312T>C (p.Ile1771Thr) c.5204T>C (p.Ile1735Thr) c.5183T>C (p.Ile1728Thr) c.4529T>C (p.Ile1510Thr) c.5477T>C (p.Ile1826Thr) c.5225T>C (p.Ile1742Thr) c.3971T>C (p.Ile1324Thr) | dbSNP |
| 16 | g.2088447T>G | CA054821 | TSC2 | c.*3610T>G (n.*3610T>G) c.5108T>G (p.Ile1703Ser) c.5258T>G (p.Ile1753Ser) c.*5774T>G (n.*5774T>G) c.*8010T>G (n.*8010T>G) c.5261T>G (p.Ile1754Ser) c.5192T>G (p.Ile1731Ser) c.5060T>G (p.Ile1687Ser) c.5093T>G (p.Ile1698Ser) c.1484T>G n.3143T>G c.3915T>G c.5120T>G (p.Ile1707Ser) n.858T>G c.5063T>G (p.Ile1688Ser) c.5129T>G (p.Ile1710Ser) c.5054T>G (p.Ile1685Ser) n.2909T>G c.5186T>G (p.Ile1729Ser) c.5132T>G (p.Ile1711Ser) c.5147T>G (p.Ile1716Ser) c.5057T>G (p.Ile1686Ser) c.5182T>G n.3345T>G c.5255T>G (p.Ile1752Ser) n.4076T>G n.2513T>G n.2484T>G n.2374T>G c.4916T>G (p.Ile1639Ser) c.*4428T>G (n.*4428T>G) c.4952T>G (p.Ile1651Ser) n.2984T>G c.1443T>G n.2376T>G c.5315T>G (p.Ile1772Ser) c.5312T>G (p.Ile1771Ser) c.5204T>G (p.Ile1735Ser) c.5183T>G (p.Ile1728Ser) c.4529T>G (p.Ile1510Ser) c.5477T>G (p.Ile1826Ser) c.5225T>G (p.Ile1742Ser) c.3971T>G (p.Ile1324Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2088447T= | CA2202033232 | TSC2 | c.*3610T= (n.*3610T=) c.5108T= (p.Ile1703=) c.5258T= (p.Ile1753=) c.*5774T= (n.*5774T=) c.*8010T= (n.*8010T=) c.5261T= (p.Ile1754=) c.5192T= (p.Ile1731=) c.5060T= (p.Ile1687=) c.5093T= (p.Ile1698=) c.1484T= n.3143T= c.3915T= c.5120T= (p.Ile1707=) n.858T= c.5063T= (p.Ile1688=) c.5129T= (p.Ile1710=) c.5054T= (p.Ile1685=) n.2909T= c.5186T= (p.Ile1729=) c.5132T= (p.Ile1711=) c.5147T= (p.Ile1716=) c.5057T= (p.Ile1686=) c.5182T= n.3345T= c.5255T= (p.Ile1752=) n.4076T= n.2513T= n.2484T= n.2374T= c.4916T= (p.Ile1639=) c.*4428T= (n.*4428T=) c.4952T= (p.Ile1651=) n.2984T= c.1443T= n.2376T= c.5315T= (p.Ile1772=) c.5312T= (p.Ile1771=) c.5204T= (p.Ile1735=) c.5183T= (p.Ile1728=) c.4529T= (p.Ile1510=) c.5477T= (p.Ile1826=) c.5225T= (p.Ile1742=) c.3971T= (p.Ile1324=) | |
| 16 | g.2088447_2088448delinsTC | CA2202033229 | TSC2 | c.*3610_*3611delinsTC (n.*3610_*3611delinsTC) c.5108_5109delinsTC (p.Ile1703=) c.5258_5259delinsTC (p.Ile1753=) c.*5774_*5775delinsTC (n.*5774_*5775delinsTC) c.*8010_*8011delinsTC (n.*8010_*8011delinsTC) c.5261_5262delinsTC (p.Ile1754=) c.5192_5193delinsTC (p.Ile1731=) c.5060_5061delinsTC (p.Ile1687=) c.5093_5094delinsTC (p.Ile1698=) c.1484_1485delinsTC n.3143_3144delinsTC c.3915_3916delinsTC c.5120_5121delinsTC (p.Ile1707=) n.858_859delinsTC c.5063_5064delinsTC (p.Ile1688=) c.5129_5130delinsTC (p.Ile1710=) c.5054_5055delinsTC (p.Ile1685=) n.2909_2910delinsTC c.5186_5187delinsTC (p.Ile1729=) c.5132_5133delinsTC (p.Ile1711=) c.5147_5148delinsTC (p.Ile1716=) c.5057_5058delinsTC (p.Ile1686=) c.5182_5183delinsTC n.3345_3346delinsTC c.5255_5256delinsTC (p.Ile1752=) n.4076_4077delinsTC n.2513_2514delinsTC n.2484_2485delinsTC n.2374_2375delinsTC c.4916_4917delinsTC (p.Ile1639=) c.*4428_*4429delinsTC (n.*4428_*4429delinsTC) c.4952_4953delinsTC (p.Ile1651=) n.2984_2985delinsTC c.1443_1444delinsTC n.2376_2377delinsTC c.5315_5316delinsTC (p.Ile1772=) c.5312_5313delinsTC (p.Ile1771=) c.5204_5205delinsTC (p.Ile1735=) c.5183_5184delinsTC (p.Ile1728=) c.4529_4530delinsTC (p.Ile1510=) c.5477_5478delinsTC (p.Ile1826=) c.5225_5226delinsTC (p.Ile1742=) c.3971_3972delinsTC (p.Ile1324=) | |
| 16 | g.2088448del | CA319578 | TSC2 | c.*3611del (n.*3611del) c.5109del (p.Cys1704AlafsTer?) c.5259del (p.Cys1754AlafsTer?) c.*5775del (n.*5775del) c.*8011del (n.*8011del) c.5262del (p.Cys1755AlafsTer?) c.5193del (p.Cys1732AlafsTer?) c.5061del (p.Cys1688AlafsTer?) c.5094del (p.Cys1699AlafsTer?) c.1485del n.3144del c.3916del c.5121del (p.Cys1708AlafsTer?) n.859del c.5064del (p.Cys1689AlafsTer?) c.5130del (p.Cys1711AlafsTer?) c.5055del (p.Cys1686AlafsTer?) n.2910del c.5187del (p.Cys1730AlafsTer?) c.5133del (p.Cys1712AlafsTer?) c.5148del (p.Cys1717AlafsTer?) c.5058del (p.Cys1687AlafsTer?) c.5183del n.3346del c.5256del (p.Cys1753AlafsTer?) n.4077del n.2514del n.2485del n.2375del c.4917del (p.Cys1640AlafsTer?) c.*4429del (n.*4429del) c.4953del (p.Cys1652AlafsTer?) n.2985del c.1444del n.2377del c.5316del (p.Cys1773AlafsTer?) c.5313del (p.Cys1772AlafsTer?) c.5205del (p.Cys1736AlafsTer?) c.5184del (p.Cys1729AlafsTer?) c.4530del (p.Cys1511AlafsTer?) c.5478del (p.Cys1827AlafsTer?) c.5226del (p.Cys1743AlafsTer?) c.3972del (p.Cys1325AlafsTer?) | ClinVar dbSNP |
| 16 | g.2088448C>A | CA054835 | TSC2 | c.*3611C>A (n.*3611C>A) c.5109C>A (p.Ile1703=) c.5259C>A (p.Ile1753=) c.*5775C>A (n.*5775C>A) c.*8011C>A (n.*8011C>A) c.5262C>A (p.Ile1754=) c.5193C>A (p.Ile1731=) c.5061C>A (p.Ile1687=) c.5094C>A (p.Ile1698=) c.1485C>A n.3144C>A c.3916C>A c.5121C>A (p.Ile1707=) n.859C>A c.5064C>A (p.Ile1688=) c.5130C>A (p.Ile1710=) c.5055C>A (p.Ile1685=) n.2910C>A c.5187C>A (p.Ile1729=) c.5133C>A (p.Ile1711=) c.5148C>A (p.Ile1716=) c.5058C>A (p.Ile1686=) c.5183C>A n.3346C>A c.5256C>A (p.Ile1752=) n.4077C>A n.2514C>A n.2485C>A n.2375C>A c.4917C>A (p.Ile1639=) c.*4429C>A (n.*4429C>A) c.4953C>A (p.Ile1651=) n.2985C>A c.1444C>A n.2377C>A c.5316C>A (p.Ile1772=) c.5313C>A (p.Ile1771=) c.5205C>A (p.Ile1735=) c.5184C>A (p.Ile1728=) c.4530C>A (p.Ile1510=) c.5478C>A (p.Ile1826=) c.5226C>A (p.Ile1742=) c.3972C>A (p.Ile1324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2088448C= | CA2202033244 | TSC2 | c.*3611C= (n.*3611C=) c.5109C= (p.Ile1703=) c.5259C= (p.Ile1753=) c.*5775C= (n.*5775C=) c.*8011C= (n.*8011C=) c.5262C= (p.Ile1754=) c.5193C= (p.Ile1731=) c.5061C= (p.Ile1687=) c.5094C= (p.Ile1698=) c.1485C= n.3144C= c.3916C= c.5121C= (p.Ile1707=) n.859C= c.5064C= (p.Ile1688=) c.5130C= (p.Ile1710=) c.5055C= (p.Ile1685=) n.2910C= c.5187C= (p.Ile1729=) c.5133C= (p.Ile1711=) c.5148C= (p.Ile1716=) c.5058C= (p.Ile1686=) c.5183C= n.3346C= c.5256C= (p.Ile1752=) n.4077C= n.2514C= n.2485C= n.2375C= c.4917C= (p.Ile1639=) c.*4429C= (n.*4429C=) c.4953C= (p.Ile1651=) n.2985C= c.1444C= n.2377C= c.5316C= (p.Ile1772=) c.5313C= (p.Ile1771=) c.5205C= (p.Ile1735=) c.5184C= (p.Ile1728=) c.4530C= (p.Ile1510=) c.5478C= (p.Ile1826=) c.5226C= (p.Ile1742=) c.3972C= (p.Ile1324=) | |
| 16 | g.2088448C>G | CA054841 | TSC2 | c.*3611C>G (n.*3611C>G) c.5109C>G (p.Ile1703Met) c.5259C>G (p.Ile1753Met) c.*5775C>G (n.*5775C>G) c.*8011C>G (n.*8011C>G) c.5262C>G (p.Ile1754Met) c.5193C>G (p.Ile1731Met) c.5061C>G (p.Ile1687Met) c.5094C>G (p.Ile1698Met) c.1485C>G n.3144C>G c.3916C>G c.5121C>G (p.Ile1707Met) n.859C>G c.5064C>G (p.Ile1688Met) c.5130C>G (p.Ile1710Met) c.5055C>G (p.Ile1685Met) n.2910C>G c.5187C>G (p.Ile1729Met) c.5133C>G (p.Ile1711Met) c.5148C>G (p.Ile1716Met) c.5058C>G (p.Ile1686Met) c.5183C>G n.3346C>G c.5256C>G (p.Ile1752Met) n.4077C>G n.2514C>G n.2485C>G n.2375C>G c.4917C>G (p.Ile1639Met) c.*4429C>G (n.*4429C>G) c.4953C>G (p.Ile1651Met) n.2985C>G c.1444C>G n.2377C>G c.5316C>G (p.Ile1772Met) c.5313C>G (p.Ile1771Met) c.5205C>G (p.Ile1735Met) c.5184C>G (p.Ile1728Met) c.4530C>G (p.Ile1510Met) c.5478C>G (p.Ile1826Met) c.5226C>G (p.Ile1742Met) c.3972C>G (p.Ile1324Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2088448C>T | CA022339 | TSC2 | c.*3611C>T (n.*3611C>T) c.5109C>T (p.Ile1703=) c.5259C>T (p.Ile1753=) c.*5775C>T (n.*5775C>T) c.*8011C>T (n.*8011C>T) c.5262C>T (p.Ile1754=) c.5193C>T (p.Ile1731=) c.5061C>T (p.Ile1687=) c.5094C>T (p.Ile1698=) c.1485C>T n.3144C>T c.3916C>T c.5121C>T (p.Ile1707=) n.859C>T c.5064C>T (p.Ile1688=) c.5130C>T (p.Ile1710=) c.5055C>T (p.Ile1685=) n.2910C>T c.5187C>T (p.Ile1729=) c.5133C>T (p.Ile1711=) c.5148C>T (p.Ile1716=) c.5058C>T (p.Ile1686=) c.5183C>T n.3346C>T c.5256C>T (p.Ile1752=) n.4077C>T n.2514C>T n.2485C>T n.2375C>T c.4917C>T (p.Ile1639=) c.*4429C>T (n.*4429C>T) c.4953C>T (p.Ile1651=) n.2985C>T c.1444C>T n.2377C>T c.5316C>T (p.Ile1772=) c.5313C>T (p.Ile1771=) c.5205C>T (p.Ile1735=) c.5184C>T (p.Ile1728=) c.4530C>T (p.Ile1510=) c.5478C>T (p.Ile1826=) c.5226C>T (p.Ile1742=) c.3972C>T (p.Ile1324=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2088449T>A | CA394315029 | TSC2 | c.*3612T>A (n.*3612T>A) c.5110T>A (p.Cys1704Ser) c.5260T>A (p.Cys1754Ser) c.*5776T>A (n.*5776T>A) c.*8012T>A (n.*8012T>A) c.5263T>A (p.Cys1755Ser) c.5194T>A (p.Cys1732Ser) c.5062T>A (p.Cys1688Ser) c.5095T>A (p.Cys1699Ser) c.1486T>A n.3145T>A c.3917T>A c.5122T>A (p.Cys1708Ser) n.860T>A c.5065T>A (p.Cys1689Ser) c.5131T>A (p.Cys1711Ser) c.5056T>A (p.Cys1686Ser) n.2911T>A c.5188T>A (p.Cys1730Ser) c.5134T>A (p.Cys1712Ser) c.5149T>A (p.Cys1717Ser) c.5059T>A (p.Cys1687Ser) c.5184T>A n.3347T>A c.5257T>A (p.Cys1753Ser) n.4078T>A n.2515T>A n.2486T>A n.2376T>A c.4918T>A (p.Cys1640Ser) c.*4430T>A (n.*4430T>A) c.4954T>A (p.Cys1652Ser) n.2986T>A c.1445T>A n.2378T>A c.5317T>A (p.Cys1773Ser) c.5314T>A (p.Cys1772Ser) c.5206T>A (p.Cys1736Ser) c.5185T>A (p.Cys1729Ser) c.4531T>A (p.Cys1511Ser) c.5479T>A (p.Cys1827Ser) c.5227T>A (p.Cys1743Ser) c.3973T>A (p.Cys1325Ser) | |
| 16 | g.2088449T>C | CA394315026 | TSC2 | c.*3612T>C (n.*3612T>C) c.5110T>C (p.Cys1704Arg) c.5260T>C (p.Cys1754Arg) c.*5776T>C (n.*5776T>C) c.*8012T>C (n.*8012T>C) c.5263T>C (p.Cys1755Arg) c.5194T>C (p.Cys1732Arg) c.5062T>C (p.Cys1688Arg) c.5095T>C (p.Cys1699Arg) c.1486T>C n.3145T>C c.3917T>C c.5122T>C (p.Cys1708Arg) n.860T>C c.5065T>C (p.Cys1689Arg) c.5131T>C (p.Cys1711Arg) c.5056T>C (p.Cys1686Arg) n.2911T>C c.5188T>C (p.Cys1730Arg) c.5134T>C (p.Cys1712Arg) c.5149T>C (p.Cys1717Arg) c.5059T>C (p.Cys1687Arg) c.5184T>C n.3347T>C c.5257T>C (p.Cys1753Arg) n.4078T>C n.2515T>C n.2486T>C n.2376T>C c.4918T>C (p.Cys1640Arg) c.*4430T>C (n.*4430T>C) c.4954T>C (p.Cys1652Arg) n.2986T>C c.1445T>C n.2378T>C c.5317T>C (p.Cys1773Arg) c.5314T>C (p.Cys1772Arg) c.5206T>C (p.Cys1736Arg) c.5185T>C (p.Cys1729Arg) c.4531T>C (p.Cys1511Arg) c.5479T>C (p.Cys1827Arg) c.5227T>C (p.Cys1743Arg) c.3973T>C (p.Cys1325Arg) | ClinVar dbSNP |
| 16 | g.2088449T>G | CA394315027 | TSC2 | c.*3612T>G (n.*3612T>G) c.5110T>G (p.Cys1704Gly) c.5260T>G (p.Cys1754Gly) c.*5776T>G (n.*5776T>G) c.*8012T>G (n.*8012T>G) c.5263T>G (p.Cys1755Gly) c.5194T>G (p.Cys1732Gly) c.5062T>G (p.Cys1688Gly) c.5095T>G (p.Cys1699Gly) c.1486T>G n.3145T>G c.3917T>G c.5122T>G (p.Cys1708Gly) n.860T>G c.5065T>G (p.Cys1689Gly) c.5131T>G (p.Cys1711Gly) c.5056T>G (p.Cys1686Gly) n.2911T>G c.5188T>G (p.Cys1730Gly) c.5134T>G (p.Cys1712Gly) c.5149T>G (p.Cys1717Gly) c.5059T>G (p.Cys1687Gly) c.5184T>G n.3347T>G c.5257T>G (p.Cys1753Gly) n.4078T>G n.2515T>G n.2486T>G n.2376T>G c.4918T>G (p.Cys1640Gly) c.*4430T>G (n.*4430T>G) c.4954T>G (p.Cys1652Gly) n.2986T>G c.1445T>G n.2378T>G c.5317T>G (p.Cys1773Gly) c.5314T>G (p.Cys1772Gly) c.5206T>G (p.Cys1736Gly) c.5185T>G (p.Cys1729Gly) c.4531T>G (p.Cys1511Gly) c.5479T>G (p.Cys1827Gly) c.5227T>G (p.Cys1743Gly) c.3973T>G (p.Cys1325Gly) | |
| 16 | g.2088450G>A | CA054855 | TSC2 | c.*3613G>A (n.*3613G>A) c.5111G>A (p.Cys1704Tyr) c.5261G>A (p.Cys1754Tyr) c.*5777G>A (n.*5777G>A) c.*8013G>A (n.*8013G>A) c.5264G>A (p.Cys1755Tyr) c.5195G>A (p.Cys1732Tyr) c.5063G>A (p.Cys1688Tyr) c.5096G>A (p.Cys1699Tyr) c.1487G>A n.3146G>A c.3918G>A c.5123G>A (p.Cys1708Tyr) n.861G>A c.5066G>A (p.Cys1689Tyr) c.5132G>A (p.Cys1711Tyr) c.5057G>A (p.Cys1686Tyr) n.2912G>A c.5189G>A (p.Cys1730Tyr) c.5135G>A (p.Cys1712Tyr) c.5150G>A (p.Cys1717Tyr) c.5060G>A (p.Cys1687Tyr) c.5185G>A n.3348G>A c.5258G>A (p.Cys1753Tyr) n.4079G>A n.2516G>A n.2487G>A n.2377G>A c.4919G>A (p.Cys1640Tyr) c.*4431G>A (n.*4431G>A) c.4955G>A (p.Cys1652Tyr) n.2987G>A c.1446G>A n.2379G>A c.5318G>A (p.Cys1773Tyr) c.5315G>A (p.Cys1772Tyr) c.5207G>A (p.Cys1736Tyr) c.5186G>A (p.Cys1729Tyr) c.4532G>A (p.Cys1511Tyr) c.5480G>A (p.Cys1827Tyr) c.5228G>A (p.Cys1743Tyr) c.3974G>A (p.Cys1325Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2088450G>C | CA394315040 | TSC2 | c.*3613G>C (n.*3613G>C) c.5111G>C (p.Cys1704Ser) c.5261G>C (p.Cys1754Ser) c.*5777G>C (n.*5777G>C) c.*8013G>C (n.*8013G>C) c.5264G>C (p.Cys1755Ser) c.5195G>C (p.Cys1732Ser) c.5063G>C (p.Cys1688Ser) c.5096G>C (p.Cys1699Ser) c.1487G>C n.3146G>C c.3918G>C c.5123G>C (p.Cys1708Ser) n.861G>C c.5066G>C (p.Cys1689Ser) c.5132G>C (p.Cys1711Ser) c.5057G>C (p.Cys1686Ser) n.2912G>C c.5189G>C (p.Cys1730Ser) c.5135G>C (p.Cys1712Ser) c.5150G>C (p.Cys1717Ser) c.5060G>C (p.Cys1687Ser) c.5185G>C n.3348G>C c.5258G>C (p.Cys1753Ser) n.4079G>C n.2516G>C n.2487G>C n.2377G>C c.4919G>C (p.Cys1640Ser) c.*4431G>C (n.*4431G>C) c.4955G>C (p.Cys1652Ser) n.2987G>C c.1446G>C n.2379G>C c.5318G>C (p.Cys1773Ser) c.5315G>C (p.Cys1772Ser) c.5207G>C (p.Cys1736Ser) c.5186G>C (p.Cys1729Ser) c.4532G>C (p.Cys1511Ser) c.5480G>C (p.Cys1827Ser) c.5228G>C (p.Cys1743Ser) c.3974G>C (p.Cys1325Ser) | |
| 16 | g.2088450G= | CA2202033254 | TSC2 | c.*3613G= (n.*3613G=) c.5111G= (p.Cys1704=) c.5261G= (p.Cys1754=) c.*5777G= (n.*5777G=) c.*8013G= (n.*8013G=) c.5264G= (p.Cys1755=) c.5195G= (p.Cys1732=) c.5063G= (p.Cys1688=) c.5096G= (p.Cys1699=) c.1487G= n.3146G= c.3918G= c.5123G= (p.Cys1708=) n.861G= c.5066G= (p.Cys1689=) c.5132G= (p.Cys1711=) c.5057G= (p.Cys1686=) n.2912G= c.5189G= (p.Cys1730=) c.5135G= (p.Cys1712=) c.5150G= (p.Cys1717=) c.5060G= (p.Cys1687=) c.5185G= n.3348G= c.5258G= (p.Cys1753=) n.4079G= n.2516G= n.2487G= n.2377G= c.4919G= (p.Cys1640=) c.*4431G= (n.*4431G=) c.4955G= (p.Cys1652=) n.2987G= c.1446G= n.2379G= c.5318G= (p.Cys1773=) c.5315G= (p.Cys1772=) c.5207G= (p.Cys1736=) c.5186G= (p.Cys1729=) c.4532G= (p.Cys1511=) c.5480G= (p.Cys1827=) c.5228G= (p.Cys1743=) c.3974G= (p.Cys1325=) | |
| 16 | g.2088450G>T | CA394315042 | TSC2 | c.*3613G>T (n.*3613G>T) c.5111G>T (p.Cys1704Phe) c.5261G>T (p.Cys1754Phe) c.*5777G>T (n.*5777G>T) c.*8013G>T (n.*8013G>T) c.5264G>T (p.Cys1755Phe) c.5195G>T (p.Cys1732Phe) c.5063G>T (p.Cys1688Phe) c.5096G>T (p.Cys1699Phe) c.1487G>T n.3146G>T c.3918G>T c.5123G>T (p.Cys1708Phe) n.861G>T c.5066G>T (p.Cys1689Phe) c.5132G>T (p.Cys1711Phe) c.5057G>T (p.Cys1686Phe) n.2912G>T c.5189G>T (p.Cys1730Phe) c.5135G>T (p.Cys1712Phe) c.5150G>T (p.Cys1717Phe) c.5060G>T (p.Cys1687Phe) c.5185G>T n.3348G>T c.5258G>T (p.Cys1753Phe) n.4079G>T n.2516G>T n.2487G>T n.2377G>T c.4919G>T (p.Cys1640Phe) c.*4431G>T (n.*4431G>T) c.4955G>T (p.Cys1652Phe) n.2987G>T c.1446G>T n.2379G>T c.5318G>T (p.Cys1773Phe) c.5315G>T (p.Cys1772Phe) c.5207G>T (p.Cys1736Phe) c.5186G>T (p.Cys1729Phe) c.4532G>T (p.Cys1511Phe) c.5480G>T (p.Cys1827Phe) c.5228G>T (p.Cys1743Phe) c.3974G>T (p.Cys1325Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2088451C>A | CA394315045 | TSC2 | c.*3614C>A (n.*3614C>A) c.5112C>A (p.Cys1704Ter) c.5262C>A (p.Cys1754Ter) c.*5778C>A (n.*5778C>A) c.*8014C>A (n.*8014C>A) c.5265C>A (p.Cys1755Ter) c.5196C>A (p.Cys1732Ter) c.5064C>A (p.Cys1688Ter) c.5097C>A (p.Cys1699Ter) c.1488C>A n.3147C>A c.3919C>A c.5124C>A (p.Cys1708Ter) n.862C>A c.5067C>A (p.Cys1689Ter) c.5133C>A (p.Cys1711Ter) c.5058C>A (p.Cys1686Ter) n.2913C>A c.5190C>A (p.Cys1730Ter) c.5136C>A (p.Cys1712Ter) c.5151C>A (p.Cys1717Ter) c.5061C>A (p.Cys1687Ter) c.5186C>A n.3349C>A c.5259C>A (p.Cys1753Ter) n.4080C>A n.2517C>A n.2488C>A n.2378C>A c.4920C>A (p.Cys1640Ter) c.*4432C>A (n.*4432C>A) c.4956C>A (p.Cys1652Ter) n.2988C>A c.1447C>A n.2380C>A c.5319C>A (p.Cys1773Ter) c.5316C>A (p.Cys1772Ter) c.5208C>A (p.Cys1736Ter) c.5187C>A (p.Cys1729Ter) c.4533C>A (p.Cys1511Ter) c.5481C>A (p.Cys1827Ter) c.5229C>A (p.Cys1743Ter) c.3975C>A (p.Cys1325Ter) | |
| 16 | g.2088451C= | CA2202033267 | TSC2 | c.*3614C= (n.*3614C=) c.5112C= (p.Cys1704=) c.5262C= (p.Cys1754=) c.*5778C= (n.*5778C=) c.*8014C= (n.*8014C=) c.5265C= (p.Cys1755=) c.5196C= (p.Cys1732=) c.5064C= (p.Cys1688=) c.5097C= (p.Cys1699=) c.1488C= n.3147C= c.3919C= c.5124C= (p.Cys1708=) n.862C= c.5067C= (p.Cys1689=) c.5133C= (p.Cys1711=) c.5058C= (p.Cys1686=) n.2913C= c.5190C= (p.Cys1730=) c.5136C= (p.Cys1712=) c.5151C= (p.Cys1717=) c.5061C= (p.Cys1687=) c.5186C= n.3349C= c.5259C= (p.Cys1753=) n.4080C= n.2517C= n.2488C= n.2378C= c.4920C= (p.Cys1640=) c.*4432C= (n.*4432C=) c.4956C= (p.Cys1652=) n.2988C= c.1447C= n.2380C= c.5319C= (p.Cys1773=) c.5316C= (p.Cys1772=) c.5208C= (p.Cys1736=) c.5187C= (p.Cys1729=) c.4533C= (p.Cys1511=) c.5481C= (p.Cys1827=) c.5229C= (p.Cys1743=) c.3975C= (p.Cys1325=) | |
| 16 | g.2088451C>G | CA394315048 | TSC2 | c.*3614C>G (n.*3614C>G) c.5112C>G (p.Cys1704Trp) c.5262C>G (p.Cys1754Trp) c.*5778C>G (n.*5778C>G) c.*8014C>G (n.*8014C>G) c.5265C>G (p.Cys1755Trp) c.5196C>G (p.Cys1732Trp) c.5064C>G (p.Cys1688Trp) c.5097C>G (p.Cys1699Trp) c.1488C>G n.3147C>G c.3919C>G c.5124C>G (p.Cys1708Trp) n.862C>G c.5067C>G (p.Cys1689Trp) c.5133C>G (p.Cys1711Trp) c.5058C>G (p.Cys1686Trp) n.2913C>G c.5190C>G (p.Cys1730Trp) c.5136C>G (p.Cys1712Trp) c.5151C>G (p.Cys1717Trp) c.5061C>G (p.Cys1687Trp) c.5186C>G n.3349C>G c.5259C>G (p.Cys1753Trp) n.4080C>G n.2517C>G n.2488C>G n.2378C>G c.4920C>G (p.Cys1640Trp) c.*4432C>G (n.*4432C>G) c.4956C>G (p.Cys1652Trp) n.2988C>G c.1447C>G n.2380C>G c.5319C>G (p.Cys1773Trp) c.5316C>G (p.Cys1772Trp) c.5208C>G (p.Cys1736Trp) c.5187C>G (p.Cys1729Trp) c.4533C>G (p.Cys1511Trp) c.5481C>G (p.Cys1827Trp) c.5229C>G (p.Cys1743Trp) c.3975C>G (p.Cys1325Trp) | ClinVar dbSNP |
| 16 | g.2088451C>T | CA022344 | TSC2 | c.*3614C>T (n.*3614C>T) c.5112C>T (p.Cys1704=) c.5262C>T (p.Cys1754=) c.*5778C>T (n.*5778C>T) c.*8014C>T (n.*8014C>T) c.5265C>T (p.Cys1755=) c.5196C>T (p.Cys1732=) c.5064C>T (p.Cys1688=) c.5097C>T (p.Cys1699=) c.1488C>T n.3147C>T c.3919C>T c.5124C>T (p.Cys1708=) n.862C>T c.5067C>T (p.Cys1689=) c.5133C>T (p.Cys1711=) c.5058C>T (p.Cys1686=) n.2913C>T c.5190C>T (p.Cys1730=) c.5136C>T (p.Cys1712=) c.5151C>T (p.Cys1717=) c.5061C>T (p.Cys1687=) c.5186C>T n.3349C>T c.5259C>T (p.Cys1753=) n.4080C>T n.2517C>T n.2488C>T n.2378C>T c.4920C>T (p.Cys1640=) c.*4432C>T (n.*4432C>T) c.4956C>T (p.Cys1652=) n.2988C>T c.1447C>T n.2380C>T c.5319C>T (p.Cys1773=) c.5316C>T (p.Cys1772=) c.5208C>T (p.Cys1736=) c.5187C>T (p.Cys1729=) c.4533C>T (p.Cys1511=) c.5481C>T (p.Cys1827=) c.5229C>T (p.Cys1743=) c.3975C>T (p.Cys1325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2088451_2088452delinsCG | CA2202033271 | TSC2 | c.*3614_*3615delinsCG (n.*3614_*3615delinsCG) c.5112_5113delinsCG (p.Cys1704=) c.5262_5263delinsCG (p.Cys1754=) c.*5778_*5779delinsCG (n.*5778_*5779delinsCG) c.*8014_*8015delinsCG (n.*8014_*8015delinsCG) c.5265_5266delinsCG (p.Cys1755=) c.5196_5197delinsCG (p.Cys1732=) c.5064_5065delinsCG (p.Cys1688=) c.5097_5098delinsCG (p.Cys1699=) c.1488_1489delinsCG n.3147_3148delinsCG c.3919_3920delinsCG c.5124_5125delinsCG (p.Cys1708=) n.862_863delinsCG c.5067_5068delinsCG (p.Cys1689=) c.5133_5134delinsCG (p.Cys1711=) c.5058_5059delinsCG (p.Cys1686=) n.2913_2914delinsCG c.5190_5191delinsCG (p.Cys1730=) c.5136_5137delinsCG (p.Cys1712=) c.5151_5152delinsCG (p.Cys1717=) c.5061_5062delinsCG (p.Cys1687=) c.5186_5187delinsCG n.3349_3350delinsCG c.5259_5260delinsCG (p.Cys1753=) n.4080_4081delinsCG n.2517_2518delinsCG n.2488_2489delinsCG n.2378_2379delinsCG c.4920_4921delinsCG (p.Cys1640=) c.*4432_*4433delinsCG (n.*4432_*4433delinsCG) c.4956_4957delinsCG (p.Cys1652=) n.2988_2989delinsCG c.1447_1448delinsCG n.2380_2381delinsCG c.5319_5320delinsCG (p.Cys1773=) c.5316_5317delinsCG (p.Cys1772=) c.5208_5209delinsCG (p.Cys1736=) c.5187_5188delinsCG (p.Cys1729=) c.4533_4534delinsCG (p.Cys1511=) c.5481_5482delinsCG (p.Cys1827=) c.5229_5230delinsCG (p.Cys1743=) c.3975_3976delinsCG (p.Cys1325=) | |
| 16 | g.2088452del | CA10583345 | TSC2 | c.*3615del (n.*3615del) c.5113del (p.Glu1705ArgfsTer?) c.5263del (p.Glu1755ArgfsTer?) c.*5779del (n.*5779del) c.*8015del (n.*8015del) c.5266del (p.Glu1756ArgfsTer?) c.5197del (p.Glu1733ArgfsTer?) c.5065del (p.Glu1689ArgfsTer?) c.5098del (p.Glu1700ArgfsTer?) c.1489del n.3148del c.3920del c.5125del (p.Glu1709ArgfsTer?) n.863del c.5068del (p.Glu1690ArgfsTer?) c.5134del (p.Glu1712ArgfsTer?) c.5059del (p.Glu1687ArgfsTer?) n.2914del c.5191del (p.Glu1731ArgfsTer?) c.5137del (p.Glu1713ArgfsTer?) c.5152del (p.Glu1718ArgfsTer?) c.5062del (p.Glu1688ArgfsTer?) c.5187del n.3350del c.5260del (p.Glu1754ArgfsTer?) n.4081del n.2518del n.2489del n.2379del c.4921del (p.Glu1641ArgfsTer?) c.*4433del (n.*4433del) c.4957del (p.Glu1653ArgfsTer?) n.2989del c.1448del n.2381del c.5320del (p.Glu1774ArgfsTer?) c.5317del (p.Glu1773ArgfsTer?) c.5209del (p.Glu1737ArgfsTer?) c.5188del (p.Glu1730ArgfsTer?) c.4534del (p.Glu1512ArgfsTer?) c.5482del (p.Glu1828ArgfsTer?) c.5230del (p.Glu1744ArgfsTer?) c.3976del (p.Glu1326ArgfsTer?) | ClinVar dbSNP |
| 16 | g.2088452G>A | CA054884 | TSC2 | c.*3615G>A (n.*3615G>A) c.5113G>A (p.Glu1705Lys) c.5263G>A (p.Glu1755Lys) c.*5779G>A (n.*5779G>A) c.*8015G>A (n.*8015G>A) c.5266G>A (p.Glu1756Lys) c.5197G>A (p.Glu1733Lys) c.5065G>A (p.Glu1689Lys) c.5098G>A (p.Glu1700Lys) c.1489G>A n.3148G>A c.3920G>A c.5125G>A (p.Glu1709Lys) n.863G>A c.5068G>A (p.Glu1690Lys) c.5134G>A (p.Glu1712Lys) c.5059G>A (p.Glu1687Lys) n.2914G>A c.5191G>A (p.Glu1731Lys) c.5137G>A (p.Glu1713Lys) c.5152G>A (p.Glu1718Lys) c.5062G>A (p.Glu1688Lys) c.5187G>A n.3350G>A c.5260G>A (p.Glu1754Lys) n.4081G>A n.2518G>A n.2489G>A n.2379G>A c.4921G>A (p.Glu1641Lys) c.*4433G>A (n.*4433G>A) c.4957G>A (p.Glu1653Lys) n.2989G>A c.1448G>A n.2381G>A c.5320G>A (p.Glu1774Lys) c.5317G>A (p.Glu1773Lys) c.5209G>A (p.Glu1737Lys) c.5188G>A (p.Glu1730Lys) c.4534G>A (p.Glu1512Lys) c.5482G>A (p.Glu1828Lys) c.5230G>A (p.Glu1744Lys) c.3976G>A (p.Glu1326Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2088452G>C | CA394315058 | TSC2 | c.*3615G>C (n.*3615G>C) c.5113G>C (p.Glu1705Gln) c.5263G>C (p.Glu1755Gln) c.*5779G>C (n.*5779G>C) c.*8015G>C (n.*8015G>C) c.5266G>C (p.Glu1756Gln) c.5197G>C (p.Glu1733Gln) c.5065G>C (p.Glu1689Gln) c.5098G>C (p.Glu1700Gln) c.1489G>C n.3148G>C c.3920G>C c.5125G>C (p.Glu1709Gln) n.863G>C c.5068G>C (p.Glu1690Gln) c.5134G>C (p.Glu1712Gln) c.5059G>C (p.Glu1687Gln) n.2914G>C c.5191G>C (p.Glu1731Gln) c.5137G>C (p.Glu1713Gln) c.5152G>C (p.Glu1718Gln) c.5062G>C (p.Glu1688Gln) c.5187G>C n.3350G>C c.5260G>C (p.Glu1754Gln) n.4081G>C n.2518G>C n.2489G>C n.2379G>C c.4921G>C (p.Glu1641Gln) c.*4433G>C (n.*4433G>C) c.4957G>C (p.Glu1653Gln) n.2989G>C c.1448G>C n.2381G>C c.5320G>C (p.Glu1774Gln) c.5317G>C (p.Glu1773Gln) c.5209G>C (p.Glu1737Gln) c.5188G>C (p.Glu1730Gln) c.4534G>C (p.Glu1512Gln) c.5482G>C (p.Glu1828Gln) c.5230G>C (p.Glu1744Gln) c.3976G>C (p.Glu1326Gln) | ClinVar dbSNP |
| 16 | g.2088452G= | CA2202033282 | TSC2 | c.*3615G= (n.*3615G=) c.5113G= (p.Glu1705=) c.5263G= (p.Glu1755=) c.*5779G= (n.*5779G=) c.*8015G= (n.*8015G=) c.5266G= (p.Glu1756=) c.5197G= (p.Glu1733=) c.5065G= (p.Glu1689=) c.5098G= (p.Glu1700=) c.1489G= n.3148G= c.3920G= c.5125G= (p.Glu1709=) n.863G= c.5068G= (p.Glu1690=) c.5134G= (p.Glu1712=) c.5059G= (p.Glu1687=) n.2914G= c.5191G= (p.Glu1731=) c.5137G= (p.Glu1713=) c.5152G= (p.Glu1718=) c.5062G= (p.Glu1688=) c.5187G= n.3350G= c.5260G= (p.Glu1754=) n.4081G= n.2518G= n.2489G= n.2379G= c.4921G= (p.Glu1641=) c.*4433G= (n.*4433G=) c.4957G= (p.Glu1653=) n.2989G= c.1448G= n.2381G= c.5320G= (p.Glu1774=) c.5317G= (p.Glu1773=) c.5209G= (p.Glu1737=) c.5188G= (p.Glu1730=) c.4534G= (p.Glu1512=) c.5482G= (p.Glu1828=) c.5230G= (p.Glu1744=) c.3976G= (p.Glu1326=) | |
| 16 | g.2088452G>T | CA394315056 | TSC2 | c.*3615G>T (n.*3615G>T) c.5113G>T (p.Glu1705Ter) c.5263G>T (p.Glu1755Ter) c.*5779G>T (n.*5779G>T) c.*8015G>T (n.*8015G>T) c.5266G>T (p.Glu1756Ter) c.5197G>T (p.Glu1733Ter) c.5065G>T (p.Glu1689Ter) c.5098G>T (p.Glu1700Ter) c.1489G>T n.3148G>T c.3920G>T c.5125G>T (p.Glu1709Ter) n.863G>T c.5068G>T (p.Glu1690Ter) c.5134G>T (p.Glu1712Ter) c.5059G>T (p.Glu1687Ter) n.2914G>T c.5191G>T (p.Glu1731Ter) c.5137G>T (p.Glu1713Ter) c.5152G>T (p.Glu1718Ter) c.5062G>T (p.Glu1688Ter) c.5187G>T n.3350G>T c.5260G>T (p.Glu1754Ter) n.4081G>T n.2518G>T n.2489G>T n.2379G>T c.4921G>T (p.Glu1641Ter) c.*4433G>T (n.*4433G>T) c.4957G>T (p.Glu1653Ter) n.2989G>T c.1448G>T n.2381G>T c.5320G>T (p.Glu1774Ter) c.5317G>T (p.Glu1773Ter) c.5209G>T (p.Glu1737Ter) c.5188G>T (p.Glu1730Ter) c.4534G>T (p.Glu1512Ter) c.5482G>T (p.Glu1828Ter) c.5230G>T (p.Glu1744Ter) c.3976G>T (p.Glu1326Ter) | ClinVar |
| 16 | g.2088452_2088462delinsCTTCAGAT | CA2580091180 | TSC2 | c.*3615_*3625delinsCTTCAGAT (n.*3615_*3625delinsCTTCAGAT) c.5113_5123delinsCTTCAGAT (p.Glu1705_Ala1708delinsLeuGlnIle) c.5263_5273delinsCTTCAGAT (p.Glu1755_Ala1758delinsLeuGlnIle) c.*5779_*5789delinsCTTCAGAT (n.*5779_*5789delinsCTTCAGAT) c.*8015_*8025delinsCTTCAGAT (n.*8015_*8025delinsCTTCAGAT) c.5266_5276delinsCTTCAGAT (p.Glu1756_Ala1759delinsLeuGlnIle) c.5197_5207delinsCTTCAGAT (p.Glu1733_Ala1736delinsLeuGlnIle) c.5065_5075delinsCTTCAGAT (p.Glu1689_Ala1692delinsLeuGlnIle) c.5098_5108delinsCTTCAGAT (p.Glu1700_Ala1703delinsLeuGlnIle) c.1489_1499delinsCTTCAGAT n.3148_3158delinsCTTCAGAT c.3920_3930delinsCTTCAGAT c.5125_5135delinsCTTCAGAT (p.Glu1709_Ala1712delinsLeuGlnIle) n.863_873delinsCTTCAGAT c.5068_5078delinsCTTCAGAT (p.Glu1690_Ala1693delinsLeuGlnIle) c.5134_5144delinsCTTCAGAT (p.Glu1712_Ala1715delinsLeuGlnIle) c.5059_5069delinsCTTCAGAT (p.Glu1687_Ala1690delinsLeuGlnIle) n.2914_2924delinsCTTCAGAT c.5191_5201delinsCTTCAGAT (p.Glu1731_Ala1734delinsLeuGlnIle) c.5137_5147delinsCTTCAGAT (p.Glu1713_Ala1716delinsLeuGlnIle) c.5152_5162delinsCTTCAGAT (p.Glu1718_Ala1721delinsLeuGlnIle) c.5062_5072delinsCTTCAGAT (p.Glu1688_Ala1691delinsLeuGlnIle) c.5187_5197delinsCTTCAGAT n.3350_3360delinsCTTCAGAT c.5260_5270delinsCTTCAGAT (p.Glu1754_Ala1757delinsLeuGlnIle) n.4081_4091delinsCTTCAGAT n.2518_2528delinsCTTCAGAT n.2489_2499delinsCTTCAGAT n.2379_2389delinsCTTCAGAT c.4921_4931delinsCTTCAGAT (p.Glu1641_Ala1644delinsLeuGlnIle) c.*4433_*4443delinsCTTCAGAT (n.*4433_*4443delinsCTTCAGAT) c.4957_4967delinsCTTCAGAT (p.Glu1653_Ala1656delinsLeuGlnIle) n.2989_2999delinsCTTCAGAT c.1448_1458delinsCTTCAGAT n.2381_2391delinsCTTCAGAT c.5320_5330delinsCTTCAGAT (p.Glu1774_Ala1777delinsLeuGlnIle) c.5317_5327delinsCTTCAGAT (p.Glu1773_Ala1776delinsLeuGlnIle) c.5209_5219delinsCTTCAGAT (p.Glu1737_Ala1740delinsLeuGlnIle) c.5188_5198delinsCTTCAGAT (p.Glu1730_Ala1733delinsLeuGlnIle) c.4534_4544delinsCTTCAGAT (p.Glu1512_Ala1515delinsLeuGlnIle) c.5482_5492delinsCTTCAGAT (p.Glu1828_Ala1831delinsLeuGlnIle) c.5230_5240delinsCTTCAGAT (p.Glu1744_Ala1747delinsLeuGlnIle) c.3976_3986delinsCTTCAGAT (p.Glu1326_Ala1329delinsLeuGlnIle) | ClinVar |
| 16 | g.2088453A= | CA2202033293 | TSC2 | c.*3616A= (n.*3616A=) c.5114A= (p.Glu1705=) c.5264A= (p.Glu1755=) c.*5780A= (n.*5780A=) c.*8016A= (n.*8016A=) c.5267A= (p.Glu1756=) c.5198A= (p.Glu1733=) c.5066A= (p.Glu1689=) c.5099A= (p.Glu1700=) c.1490A= n.3149A= c.3921A= c.5126A= (p.Glu1709=) n.864A= c.5069A= (p.Glu1690=) c.5135A= (p.Glu1712=) c.5060A= (p.Glu1687=) n.2915A= c.5192A= (p.Glu1731=) c.5138A= (p.Glu1713=) c.5153A= (p.Glu1718=) c.5063A= (p.Glu1688=) c.5188A= n.3351A= c.5261A= (p.Glu1754=) n.4082A= n.2519A= n.2490A= n.2380A= c.4922A= (p.Glu1641=) c.*4434A= (n.*4434A=) c.4958A= (p.Glu1653=) n.2990A= c.1449A= n.2382A= c.5321A= (p.Glu1774=) c.5318A= (p.Glu1773=) c.5210A= (p.Glu1737=) c.5189A= (p.Glu1730=) c.4535A= (p.Glu1512=) c.5483A= (p.Glu1828=) c.5231A= (p.Glu1744=) c.3977A= (p.Glu1326=) | |
| 16 | g.2088453A>C | CA394315072 | TSC2 | c.*3616A>C (n.*3616A>C) c.5114A>C (p.Glu1705Ala) c.5264A>C (p.Glu1755Ala) c.*5780A>C (n.*5780A>C) c.*8016A>C (n.*8016A>C) c.5267A>C (p.Glu1756Ala) c.5198A>C (p.Glu1733Ala) c.5066A>C (p.Glu1689Ala) c.5099A>C (p.Glu1700Ala) c.1490A>C n.3149A>C c.3921A>C c.5126A>C (p.Glu1709Ala) n.864A>C c.5069A>C (p.Glu1690Ala) c.5135A>C (p.Glu1712Ala) c.5060A>C (p.Glu1687Ala) n.2915A>C c.5192A>C (p.Glu1731Ala) c.5138A>C (p.Glu1713Ala) c.5153A>C (p.Glu1718Ala) c.5063A>C (p.Glu1688Ala) c.5188A>C n.3351A>C c.5261A>C (p.Glu1754Ala) n.4082A>C n.2519A>C n.2490A>C n.2380A>C c.4922A>C (p.Glu1641Ala) c.*4434A>C (n.*4434A>C) c.4958A>C (p.Glu1653Ala) n.2990A>C c.1449A>C n.2382A>C c.5321A>C (p.Glu1774Ala) c.5318A>C (p.Glu1773Ala) c.5210A>C (p.Glu1737Ala) c.5189A>C (p.Glu1730Ala) c.4535A>C (p.Glu1512Ala) c.5483A>C (p.Glu1828Ala) c.5231A>C (p.Glu1744Ala) c.3977A>C (p.Glu1326Ala) | |
| 16 | g.2088453A>G | CA10643155 | TSC2 | c.*3616A>G (n.*3616A>G) c.5114A>G (p.Glu1705Gly) c.5264A>G (p.Glu1755Gly) c.*5780A>G (n.*5780A>G) c.*8016A>G (n.*8016A>G) c.5267A>G (p.Glu1756Gly) c.5198A>G (p.Glu1733Gly) c.5066A>G (p.Glu1689Gly) c.5099A>G (p.Glu1700Gly) c.1490A>G n.3149A>G c.3921A>G c.5126A>G (p.Glu1709Gly) n.864A>G c.5069A>G (p.Glu1690Gly) c.5135A>G (p.Glu1712Gly) c.5060A>G (p.Glu1687Gly) n.2915A>G c.5192A>G (p.Glu1731Gly) c.5138A>G (p.Glu1713Gly) c.5153A>G (p.Glu1718Gly) c.5063A>G (p.Glu1688Gly) c.5188A>G n.3351A>G c.5261A>G (p.Glu1754Gly) n.4082A>G n.2519A>G n.2490A>G n.2380A>G c.4922A>G (p.Glu1641Gly) c.*4434A>G (n.*4434A>G) c.4958A>G (p.Glu1653Gly) n.2990A>G c.1449A>G n.2382A>G c.5321A>G (p.Glu1774Gly) c.5318A>G (p.Glu1773Gly) c.5210A>G (p.Glu1737Gly) c.5189A>G (p.Glu1730Gly) c.4535A>G (p.Glu1512Gly) c.5483A>G (p.Glu1828Gly) c.5231A>G (p.Glu1744Gly) c.3977A>G (p.Glu1326Gly) | ClinVar dbSNP |
| 16 | g.2088453A>T | CA394315076 | TSC2 | c.*3616A>T (n.*3616A>T) c.5114A>T (p.Glu1705Val) c.5264A>T (p.Glu1755Val) c.*5780A>T (n.*5780A>T) c.*8016A>T (n.*8016A>T) c.5267A>T (p.Glu1756Val) c.5198A>T (p.Glu1733Val) c.5066A>T (p.Glu1689Val) c.5099A>T (p.Glu1700Val) c.1490A>T n.3149A>T c.3921A>T c.5126A>T (p.Glu1709Val) n.864A>T c.5069A>T (p.Glu1690Val) c.5135A>T (p.Glu1712Val) c.5060A>T (p.Glu1687Val) n.2915A>T c.5192A>T (p.Glu1731Val) c.5138A>T (p.Glu1713Val) c.5153A>T (p.Glu1718Val) c.5063A>T (p.Glu1688Val) c.5188A>T n.3351A>T c.5261A>T (p.Glu1754Val) n.4082A>T n.2519A>T n.2490A>T n.2380A>T c.4922A>T (p.Glu1641Val) c.*4434A>T (n.*4434A>T) c.4958A>T (p.Glu1653Val) n.2990A>T c.1449A>T n.2382A>T c.5321A>T (p.Glu1774Val) c.5318A>T (p.Glu1773Val) c.5210A>T (p.Glu1737Val) c.5189A>T (p.Glu1730Val) c.4535A>T (p.Glu1512Val) c.5483A>T (p.Glu1828Val) c.5231A>T (p.Glu1744Val) c.3977A>T (p.Glu1326Val) | |
| 16 | g.2088454G>A | CA493043648 | TSC2 | c.*3617G>A (n.*3617G>A) c.5115G>A (p.Glu1705=) c.5265G>A (p.Glu1755=) c.*5781G>A (n.*5781G>A) c.*8017G>A (n.*8017G>A) c.5268G>A (p.Glu1756=) c.5199G>A (p.Glu1733=) c.5067G>A (p.Glu1689=) c.5100G>A (p.Glu1700=) c.1491G>A n.3150G>A c.3922G>A c.5127G>A (p.Glu1709=) n.865G>A c.5070G>A (p.Glu1690=) c.5136G>A (p.Glu1712=) c.5061G>A (p.Glu1687=) n.2916G>A c.5193G>A (p.Glu1731=) c.5139G>A (p.Glu1713=) c.5154G>A (p.Glu1718=) c.5064G>A (p.Glu1688=) c.5189G>A n.3352G>A c.5262G>A (p.Glu1754=) n.4083G>A n.2520G>A n.2491G>A n.2381G>A c.4923G>A (p.Glu1641=) c.*4435G>A (n.*4435G>A) c.4959G>A (p.Glu1653=) n.2991G>A c.1450G>A n.2383G>A c.5322G>A (p.Glu1774=) c.5319G>A (p.Glu1773=) c.5211G>A (p.Glu1737=) c.5190G>A (p.Glu1730=) c.4536G>A (p.Glu1512=) c.5484G>A (p.Glu1828=) c.5232G>A (p.Glu1744=) c.3978G>A (p.Glu1326=) | ClinVar dbSNP |
| 16 | g.2088454G>C | CA054895 | TSC2 | c.*3617G>C (n.*3617G>C) c.5115G>C (p.Glu1705Asp) c.5265G>C (p.Glu1755Asp) c.*5781G>C (n.*5781G>C) c.*8017G>C (n.*8017G>C) c.5268G>C (p.Glu1756Asp) c.5199G>C (p.Glu1733Asp) c.5067G>C (p.Glu1689Asp) c.5100G>C (p.Glu1700Asp) c.1491G>C n.3150G>C c.3922G>C c.5127G>C (p.Glu1709Asp) n.865G>C c.5070G>C (p.Glu1690Asp) c.5136G>C (p.Glu1712Asp) c.5061G>C (p.Glu1687Asp) n.2916G>C c.5193G>C (p.Glu1731Asp) c.5139G>C (p.Glu1713Asp) c.5154G>C (p.Glu1718Asp) c.5064G>C (p.Glu1688Asp) c.5189G>C n.3352G>C c.5262G>C (p.Glu1754Asp) n.4083G>C n.2520G>C n.2491G>C n.2381G>C c.4923G>C (p.Glu1641Asp) c.*4435G>C (n.*4435G>C) c.4959G>C (p.Glu1653Asp) n.2991G>C c.1450G>C n.2383G>C c.5322G>C (p.Glu1774Asp) c.5319G>C (p.Glu1773Asp) c.5211G>C (p.Glu1737Asp) c.5190G>C (p.Glu1730Asp) c.4536G>C (p.Glu1512Asp) c.5484G>C (p.Glu1828Asp) c.5232G>C (p.Glu1744Asp) c.3978G>C (p.Glu1326Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2088454G= | CA2202033306 | TSC2 | c.*3617G= (n.*3617G=) c.5115G= (p.Glu1705=) c.5265G= (p.Glu1755=) c.*5781G= (n.*5781G=) c.*8017G= (n.*8017G=) c.5268G= (p.Glu1756=) c.5199G= (p.Glu1733=) c.5067G= (p.Glu1689=) c.5100G= (p.Glu1700=) c.1491G= n.3150G= c.3922G= c.5127G= (p.Glu1709=) n.865G= c.5070G= (p.Glu1690=) c.5136G= (p.Glu1712=) c.5061G= (p.Glu1687=) n.2916G= c.5193G= (p.Glu1731=) c.5139G= (p.Glu1713=) c.5154G= (p.Glu1718=) c.5064G= (p.Glu1688=) c.5189G= n.3352G= c.5262G= (p.Glu1754=) n.4083G= n.2520G= n.2491G= n.2381G= c.4923G= (p.Glu1641=) c.*4435G= (n.*4435G=) c.4959G= (p.Glu1653=) n.2991G= c.1450G= n.2383G= c.5322G= (p.Glu1774=) c.5319G= (p.Glu1773=) c.5211G= (p.Glu1737=) c.5190G= (p.Glu1730=) c.4536G= (p.Glu1512=) c.5484G= (p.Glu1828=) c.5232G= (p.Glu1744=) c.3978G= (p.Glu1326=) |