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 | ClinVar |
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.2088412_2088436del | CA2695221756 | TSC2 | c.*3609-34_*3609-10del (n.*3609-34_*3609-10del) c.5107-34_5107-10del (n.5107-34_5107-10del) c.5257-34_5257-10del (n.5257-34_5257-10del) c.*5773-34_*5773-10del (n.*5773-34_*5773-10del) c.*8009-34_*8009-10del (n.*8009-34_*8009-10del) c.5260-34_5260-10del (n.5260-34_5260-10del) c.5191-34_5191-10del (n.5191-34_5191-10del) c.5059-34_5059-10del (n.5059-34_5059-10del) c.5092-34_5092-10del (n.5092-34_5092-10del) c.1483-34_1483-10del n.3142-34_3142-10del c.3914-34_3914-10del c.5119-34_5119-10del (n.5119-34_5119-10del) n.857-34_857-10del c.5062-34_5062-10del (n.5062-34_5062-10del) c.5128-34_5128-10del (n.5128-34_5128-10del) c.5053-34_5053-10del (n.5053-34_5053-10del) n.2908-34_2908-10del c.5185-34_5185-10del (n.5185-34_5185-10del) c.5131-34_5131-10del (n.5131-34_5131-10del) c.5146-34_5146-10del (n.5146-34_5146-10del) c.5056-34_5056-10del (n.5056-34_5056-10del) c.5181-34_5181-10del n.3344-34_3344-10del c.5254-34_5254-10del (n.5254-34_5254-10del) n.4075-34_4075-10del n.2512-34_2512-10del n.2483-34_2483-10del n.2373-34_2373-10del c.4915-34_4915-10del (n.4915-34_4915-10del) c.*4427-34_*4427-10del (n.*4427-34_*4427-10del) c.4951-34_4951-10del (n.4951-34_4951-10del) n.2983-34_2983-10del c.1442-34_1442-10del n.2375-34_2375-10del c.5314-34_5314-10del (n.5314-34_5314-10del) c.5311-34_5311-10del (n.5311-34_5311-10del) c.5203-34_5203-10del (n.5203-34_5203-10del) c.5182-34_5182-10del (n.5182-34_5182-10del) c.4528-34_4528-10del (n.4528-34_4528-10del) c.5476-34_5476-10del (n.5476-34_5476-10del) c.5224-34_5224-10del (n.5224-34_5224-10del) c.3970-34_3970-10del (n.3970-34_3970-10del) | |
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.2088428A>C | CA2575877581 | TSC2 | c.*3609-18A>C (n.*3609-18A>C) c.5107-18A>C (n.5107-18A>C) c.5257-18A>C (n.5257-18A>C) c.*5773-18A>C (n.*5773-18A>C) c.*8009-18A>C (n.*8009-18A>C) c.5260-18A>C (n.5260-18A>C) c.5191-18A>C (n.5191-18A>C) c.5059-18A>C (n.5059-18A>C) c.5092-18A>C (n.5092-18A>C) c.1483-18A>C n.3142-18A>C c.3914-18A>C c.5119-18A>C (n.5119-18A>C) n.857-18A>C c.5062-18A>C (n.5062-18A>C) c.5128-18A>C (n.5128-18A>C) c.5053-18A>C (n.5053-18A>C) n.2908-18A>C c.5185-18A>C (n.5185-18A>C) c.5131-18A>C (n.5131-18A>C) c.5146-18A>C (n.5146-18A>C) c.5056-18A>C (n.5056-18A>C) c.5181-18A>C n.3344-18A>C c.5254-18A>C (n.5254-18A>C) n.4075-18A>C n.2512-18A>C n.2483-18A>C n.2373-18A>C c.4915-18A>C (n.4915-18A>C) c.*4427-18A>C (n.*4427-18A>C) c.4951-18A>C (n.4951-18A>C) n.2983-18A>C c.1442-18A>C n.2375-18A>C c.5314-18A>C (n.5314-18A>C) c.5311-18A>C (n.5311-18A>C) c.5203-18A>C (n.5203-18A>C) c.5182-18A>C (n.5182-18A>C) c.4528-18A>C (n.4528-18A>C) c.5476-18A>C (n.5476-18A>C) c.5224-18A>C (n.5224-18A>C) c.3970-18A>C (n.3970-18A>C) | gnomAD v4 |
16 | g.2088428A>G | CA2695197403 | TSC2 | c.*3609-18A>G (n.*3609-18A>G) c.5107-18A>G (n.5107-18A>G) c.5257-18A>G (n.5257-18A>G) c.*5773-18A>G (n.*5773-18A>G) c.*8009-18A>G (n.*8009-18A>G) c.5260-18A>G (n.5260-18A>G) c.5191-18A>G (n.5191-18A>G) c.5059-18A>G (n.5059-18A>G) c.5092-18A>G (n.5092-18A>G) c.1483-18A>G n.3142-18A>G c.3914-18A>G c.5119-18A>G (n.5119-18A>G) n.857-18A>G c.5062-18A>G (n.5062-18A>G) c.5128-18A>G (n.5128-18A>G) c.5053-18A>G (n.5053-18A>G) n.2908-18A>G c.5185-18A>G (n.5185-18A>G) c.5131-18A>G (n.5131-18A>G) c.5146-18A>G (n.5146-18A>G) c.5056-18A>G (n.5056-18A>G) c.5181-18A>G n.3344-18A>G c.5254-18A>G (n.5254-18A>G) n.4075-18A>G n.2512-18A>G n.2483-18A>G n.2373-18A>G c.4915-18A>G (n.4915-18A>G) c.*4427-18A>G (n.*4427-18A>G) c.4951-18A>G (n.4951-18A>G) n.2983-18A>G c.1442-18A>G n.2375-18A>G c.5314-18A>G (n.5314-18A>G) c.5311-18A>G (n.5311-18A>G) c.5203-18A>G (n.5203-18A>G) c.5182-18A>G (n.5182-18A>G) c.4528-18A>G (n.4528-18A>G) c.5476-18A>G (n.5476-18A>G) c.5224-18A>G (n.5224-18A>G) c.3970-18A>G (n.3970-18A>G) | ClinVar |
16 | g.2088429G>A | CA2573151983 | TSC2 | c.*3609-17G>A (n.*3609-17G>A) c.5107-17G>A (n.5107-17G>A) c.5257-17G>A (n.5257-17G>A) c.*5773-17G>A (n.*5773-17G>A) c.*8009-17G>A (n.*8009-17G>A) c.5260-17G>A (n.5260-17G>A) c.5191-17G>A (n.5191-17G>A) c.5059-17G>A (n.5059-17G>A) c.5092-17G>A (n.5092-17G>A) c.1483-17G>A n.3142-17G>A c.3914-17G>A c.5119-17G>A (n.5119-17G>A) n.857-17G>A c.5062-17G>A (n.5062-17G>A) c.5128-17G>A (n.5128-17G>A) c.5053-17G>A (n.5053-17G>A) n.2908-17G>A c.5185-17G>A (n.5185-17G>A) c.5131-17G>A (n.5131-17G>A) c.5146-17G>A (n.5146-17G>A) c.5056-17G>A (n.5056-17G>A) c.5181-17G>A n.3344-17G>A c.5254-17G>A (n.5254-17G>A) n.4075-17G>A n.2512-17G>A n.2483-17G>A n.2373-17G>A c.4915-17G>A (n.4915-17G>A) c.*4427-17G>A (n.*4427-17G>A) c.4951-17G>A (n.4951-17G>A) n.2983-17G>A c.1442-17G>A n.2375-17G>A c.5314-17G>A (n.5314-17G>A) c.5311-17G>A (n.5311-17G>A) c.5203-17G>A (n.5203-17G>A) c.5182-17G>A (n.5182-17G>A) c.4528-17G>A (n.4528-17G>A) c.5476-17G>A (n.5476-17G>A) c.5224-17G>A (n.5224-17G>A) c.3970-17G>A (n.3970-17G>A) | ClinVar dbSNP gnomAD v4 |
16 | g.2088429G>C | CA2631119314 | TSC2 | c.*3609-17G>C (n.*3609-17G>C) c.5107-17G>C (n.5107-17G>C) c.5257-17G>C (n.5257-17G>C) c.*5773-17G>C (n.*5773-17G>C) c.*8009-17G>C (n.*8009-17G>C) c.5260-17G>C (n.5260-17G>C) c.5191-17G>C (n.5191-17G>C) c.5059-17G>C (n.5059-17G>C) c.5092-17G>C (n.5092-17G>C) c.1483-17G>C n.3142-17G>C c.3914-17G>C c.5119-17G>C (n.5119-17G>C) n.857-17G>C c.5062-17G>C (n.5062-17G>C) c.5128-17G>C (n.5128-17G>C) c.5053-17G>C (n.5053-17G>C) n.2908-17G>C c.5185-17G>C (n.5185-17G>C) c.5131-17G>C (n.5131-17G>C) c.5146-17G>C (n.5146-17G>C) c.5056-17G>C (n.5056-17G>C) c.5181-17G>C n.3344-17G>C c.5254-17G>C (n.5254-17G>C) n.4075-17G>C n.2512-17G>C n.2483-17G>C n.2373-17G>C c.4915-17G>C (n.4915-17G>C) c.*4427-17G>C (n.*4427-17G>C) c.4951-17G>C (n.4951-17G>C) n.2983-17G>C c.1442-17G>C n.2375-17G>C c.5314-17G>C (n.5314-17G>C) c.5311-17G>C (n.5311-17G>C) c.5203-17G>C (n.5203-17G>C) c.5182-17G>C (n.5182-17G>C) c.4528-17G>C (n.4528-17G>C) c.5476-17G>C (n.5476-17G>C) c.5224-17G>C (n.5224-17G>C) c.3970-17G>C (n.3970-17G>C) | dbSNP gnomAD v4 |
16 | g.2088429G= | CA2202033124 | TSC2 | c.*3609-17G= (n.*3609-17G=) c.5107-17G= (n.5107-17G=) c.5257-17G= (n.5257-17G=) c.*5773-17G= (n.*5773-17G=) c.*8009-17G= (n.*8009-17G=) c.5260-17G= (n.5260-17G=) c.5191-17G= (n.5191-17G=) c.5059-17G= (n.5059-17G=) c.5092-17G= (n.5092-17G=) c.1483-17G= n.3142-17G= c.3914-17G= c.5119-17G= (n.5119-17G=) n.857-17G= c.5062-17G= (n.5062-17G=) c.5128-17G= (n.5128-17G=) c.5053-17G= (n.5053-17G=) n.2908-17G= c.5185-17G= (n.5185-17G=) c.5131-17G= (n.5131-17G=) c.5146-17G= (n.5146-17G=) c.5056-17G= (n.5056-17G=) c.5181-17G= n.3344-17G= c.5254-17G= (n.5254-17G=) n.4075-17G= n.2512-17G= n.2483-17G= n.2373-17G= c.4915-17G= (n.4915-17G=) c.*4427-17G= (n.*4427-17G=) c.4951-17G= (n.4951-17G=) n.2983-17G= c.1442-17G= n.2375-17G= c.5314-17G= (n.5314-17G=) c.5311-17G= (n.5311-17G=) c.5203-17G= (n.5203-17G=) c.5182-17G= (n.5182-17G=) c.4528-17G= (n.4528-17G=) c.5476-17G= (n.5476-17G=) c.5224-17G= (n.5224-17G=) c.3970-17G= (n.3970-17G=) | |
16 | g.2088429G>T | CA620705101 | TSC2 | c.*3609-17G>T (n.*3609-17G>T) c.5107-17G>T (n.5107-17G>T) c.5257-17G>T (n.5257-17G>T) c.*5773-17G>T (n.*5773-17G>T) c.*8009-17G>T (n.*8009-17G>T) c.5260-17G>T (n.5260-17G>T) c.5191-17G>T (n.5191-17G>T) c.5059-17G>T (n.5059-17G>T) c.5092-17G>T (n.5092-17G>T) c.1483-17G>T n.3142-17G>T c.3914-17G>T c.5119-17G>T (n.5119-17G>T) n.857-17G>T c.5062-17G>T (n.5062-17G>T) c.5128-17G>T (n.5128-17G>T) c.5053-17G>T (n.5053-17G>T) n.2908-17G>T c.5185-17G>T (n.5185-17G>T) c.5131-17G>T (n.5131-17G>T) c.5146-17G>T (n.5146-17G>T) c.5056-17G>T (n.5056-17G>T) c.5181-17G>T n.3344-17G>T c.5254-17G>T (n.5254-17G>T) n.4075-17G>T n.2512-17G>T n.2483-17G>T n.2373-17G>T c.4915-17G>T (n.4915-17G>T) c.*4427-17G>T (n.*4427-17G>T) c.4951-17G>T (n.4951-17G>T) n.2983-17G>T c.1442-17G>T n.2375-17G>T c.5314-17G>T (n.5314-17G>T) c.5311-17G>T (n.5311-17G>T) c.5203-17G>T (n.5203-17G>T) c.5182-17G>T (n.5182-17G>T) c.4528-17G>T (n.4528-17G>T) c.5476-17G>T (n.5476-17G>T) c.5224-17G>T (n.5224-17G>T) c.3970-17G>T (n.3970-17G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088430C= | CA2202033129 | TSC2 | c.*3609-16C= (n.*3609-16C=) c.5107-16C= (n.5107-16C=) c.5257-16C= (n.5257-16C=) c.*5773-16C= (n.*5773-16C=) c.*8009-16C= (n.*8009-16C=) c.5260-16C= (n.5260-16C=) c.5191-16C= (n.5191-16C=) c.5059-16C= (n.5059-16C=) c.5092-16C= (n.5092-16C=) c.1483-16C= n.3142-16C= c.3914-16C= c.5119-16C= (n.5119-16C=) n.857-16C= c.5062-16C= (n.5062-16C=) c.5128-16C= (n.5128-16C=) c.5053-16C= (n.5053-16C=) n.2908-16C= c.5185-16C= (n.5185-16C=) c.5131-16C= (n.5131-16C=) c.5146-16C= (n.5146-16C=) c.5056-16C= (n.5056-16C=) c.5181-16C= n.3344-16C= c.5254-16C= (n.5254-16C=) n.4075-16C= n.2512-16C= n.2483-16C= n.2373-16C= c.4915-16C= (n.4915-16C=) c.*4427-16C= (n.*4427-16C=) c.4951-16C= (n.4951-16C=) n.2983-16C= c.1442-16C= n.2375-16C= c.5314-16C= (n.5314-16C=) c.5311-16C= (n.5311-16C=) c.5203-16C= (n.5203-16C=) c.5182-16C= (n.5182-16C=) c.4528-16C= (n.4528-16C=) c.5476-16C= (n.5476-16C=) c.5224-16C= (n.5224-16C=) c.3970-16C= (n.3970-16C=) | |
16 | g.2088430C>G | CA2202033132 | TSC2 | c.*3609-16C>G (n.*3609-16C>G) c.5107-16C>G (n.5107-16C>G) c.5257-16C>G (n.5257-16C>G) c.*5773-16C>G (n.*5773-16C>G) c.*8009-16C>G (n.*8009-16C>G) c.5260-16C>G (n.5260-16C>G) c.5191-16C>G (n.5191-16C>G) c.5059-16C>G (n.5059-16C>G) c.5092-16C>G (n.5092-16C>G) c.1483-16C>G n.3142-16C>G c.3914-16C>G c.5119-16C>G (n.5119-16C>G) n.857-16C>G c.5062-16C>G (n.5062-16C>G) c.5128-16C>G (n.5128-16C>G) c.5053-16C>G (n.5053-16C>G) n.2908-16C>G c.5185-16C>G (n.5185-16C>G) c.5131-16C>G (n.5131-16C>G) c.5146-16C>G (n.5146-16C>G) c.5056-16C>G (n.5056-16C>G) c.5181-16C>G n.3344-16C>G c.5254-16C>G (n.5254-16C>G) n.4075-16C>G n.2512-16C>G n.2483-16C>G n.2373-16C>G c.4915-16C>G (n.4915-16C>G) c.*4427-16C>G (n.*4427-16C>G) c.4951-16C>G (n.4951-16C>G) n.2983-16C>G c.1442-16C>G n.2375-16C>G c.5314-16C>G (n.5314-16C>G) c.5311-16C>G (n.5311-16C>G) c.5203-16C>G (n.5203-16C>G) c.5182-16C>G (n.5182-16C>G) c.4528-16C>G (n.4528-16C>G) c.5476-16C>G (n.5476-16C>G) c.5224-16C>G (n.5224-16C>G) c.3970-16C>G (n.3970-16C>G) | ClinVar dbSNP gnomAD v4 |
16 | g.2088430C>T | CA718905464 | TSC2 | c.*3609-16C>T (n.*3609-16C>T) c.5107-16C>T (n.5107-16C>T) c.5257-16C>T (n.5257-16C>T) c.*5773-16C>T (n.*5773-16C>T) c.*8009-16C>T (n.*8009-16C>T) c.5260-16C>T (n.5260-16C>T) c.5191-16C>T (n.5191-16C>T) c.5059-16C>T (n.5059-16C>T) c.5092-16C>T (n.5092-16C>T) c.1483-16C>T n.3142-16C>T c.3914-16C>T c.5119-16C>T (n.5119-16C>T) n.857-16C>T c.5062-16C>T (n.5062-16C>T) c.5128-16C>T (n.5128-16C>T) c.5053-16C>T (n.5053-16C>T) n.2908-16C>T c.5185-16C>T (n.5185-16C>T) c.5131-16C>T (n.5131-16C>T) c.5146-16C>T (n.5146-16C>T) c.5056-16C>T (n.5056-16C>T) c.5181-16C>T n.3344-16C>T c.5254-16C>T (n.5254-16C>T) n.4075-16C>T n.2512-16C>T n.2483-16C>T n.2373-16C>T c.4915-16C>T (n.4915-16C>T) c.*4427-16C>T (n.*4427-16C>T) c.4951-16C>T (n.4951-16C>T) n.2983-16C>T c.1442-16C>T n.2375-16C>T c.5314-16C>T (n.5314-16C>T) c.5311-16C>T (n.5311-16C>T) c.5203-16C>T (n.5203-16C>T) c.5182-16C>T (n.5182-16C>T) c.4528-16C>T (n.4528-16C>T) c.5476-16C>T (n.5476-16C>T) c.5224-16C>T (n.5224-16C>T) c.3970-16C>T (n.3970-16C>T) | ClinVar dbSNP |
16 | g.2088431C= | CA2202033138 | TSC2 | c.*3609-15C= (n.*3609-15C=) c.5107-15C= (n.5107-15C=) c.5257-15C= (n.5257-15C=) c.*5773-15C= (n.*5773-15C=) c.*8009-15C= (n.*8009-15C=) c.5260-15C= (n.5260-15C=) c.5191-15C= (n.5191-15C=) c.5059-15C= (n.5059-15C=) c.5092-15C= (n.5092-15C=) c.1483-15C= n.3142-15C= c.3914-15C= c.5119-15C= (n.5119-15C=) n.857-15C= c.5062-15C= (n.5062-15C=) c.5128-15C= (n.5128-15C=) c.5053-15C= (n.5053-15C=) n.2908-15C= c.5185-15C= (n.5185-15C=) c.5131-15C= (n.5131-15C=) c.5146-15C= (n.5146-15C=) c.5056-15C= (n.5056-15C=) c.5181-15C= n.3344-15C= c.5254-15C= (n.5254-15C=) n.4075-15C= n.2512-15C= n.2483-15C= n.2373-15C= c.4915-15C= (n.4915-15C=) c.*4427-15C= (n.*4427-15C=) c.4951-15C= (n.4951-15C=) n.2983-15C= c.1442-15C= n.2375-15C= c.5314-15C= (n.5314-15C=) c.5311-15C= (n.5311-15C=) c.5203-15C= (n.5203-15C=) c.5182-15C= (n.5182-15C=) c.4528-15C= (n.4528-15C=) c.5476-15C= (n.5476-15C=) c.5224-15C= (n.5224-15C=) c.3970-15C= (n.3970-15C=) | |
16 | g.2088431C>T | CA022322 | TSC2 | c.*3609-15C>T (n.*3609-15C>T) c.5107-15C>T (n.5107-15C>T) c.5257-15C>T (n.5257-15C>T) c.*5773-15C>T (n.*5773-15C>T) c.*8009-15C>T (n.*8009-15C>T) c.5260-15C>T (n.5260-15C>T) c.5191-15C>T (n.5191-15C>T) c.5059-15C>T (n.5059-15C>T) c.5092-15C>T (n.5092-15C>T) c.1483-15C>T n.3142-15C>T c.3914-15C>T c.5119-15C>T (n.5119-15C>T) n.857-15C>T c.5062-15C>T (n.5062-15C>T) c.5128-15C>T (n.5128-15C>T) c.5053-15C>T (n.5053-15C>T) n.2908-15C>T c.5185-15C>T (n.5185-15C>T) c.5131-15C>T (n.5131-15C>T) c.5146-15C>T (n.5146-15C>T) c.5056-15C>T (n.5056-15C>T) c.5181-15C>T n.3344-15C>T c.5254-15C>T (n.5254-15C>T) n.4075-15C>T n.2512-15C>T n.2483-15C>T n.2373-15C>T c.4915-15C>T (n.4915-15C>T) c.*4427-15C>T (n.*4427-15C>T) c.4951-15C>T (n.4951-15C>T) n.2983-15C>T c.1442-15C>T n.2375-15C>T c.5314-15C>T (n.5314-15C>T) c.5311-15C>T (n.5311-15C>T) c.5203-15C>T (n.5203-15C>T) c.5182-15C>T (n.5182-15C>T) c.4528-15C>T (n.4528-15C>T) c.5476-15C>T (n.5476-15C>T) c.5224-15C>T (n.5224-15C>T) c.3970-15C>T (n.3970-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088431_2088437delinsCGCCTCT | CA2202033150 | TSC2 | c.*3609-15_*3609-9delinsCGCCTCT (n.*3609-15_*3609-9delinsCGCCTCT) c.5107-15_5107-9delinsCGCCTCT (n.5107-15_5107-9delinsCGCCTCT) c.5257-15_5257-9delinsCGCCTCT (n.5257-15_5257-9delinsCGCCTCT) c.*5773-15_*5773-9delinsCGCCTCT (n.*5773-15_*5773-9delinsCGCCTCT) c.*8009-15_*8009-9delinsCGCCTCT (n.*8009-15_*8009-9delinsCGCCTCT) c.5260-15_5260-9delinsCGCCTCT (n.5260-15_5260-9delinsCGCCTCT) c.5191-15_5191-9delinsCGCCTCT (n.5191-15_5191-9delinsCGCCTCT) c.5059-15_5059-9delinsCGCCTCT (n.5059-15_5059-9delinsCGCCTCT) c.5092-15_5092-9delinsCGCCTCT (n.5092-15_5092-9delinsCGCCTCT) c.1483-15_1483-9delinsCGCCTCT n.3142-15_3142-9delinsCGCCTCT c.3914-15_3914-9delinsCGCCTCT c.5119-15_5119-9delinsCGCCTCT (n.5119-15_5119-9delinsCGCCTCT) n.857-15_857-9delinsCGCCTCT c.5062-15_5062-9delinsCGCCTCT (n.5062-15_5062-9delinsCGCCTCT) c.5128-15_5128-9delinsCGCCTCT (n.5128-15_5128-9delinsCGCCTCT) c.5053-15_5053-9delinsCGCCTCT (n.5053-15_5053-9delinsCGCCTCT) n.2908-15_2908-9delinsCGCCTCT c.5185-15_5185-9delinsCGCCTCT (n.5185-15_5185-9delinsCGCCTCT) c.5131-15_5131-9delinsCGCCTCT (n.5131-15_5131-9delinsCGCCTCT) c.5146-15_5146-9delinsCGCCTCT (n.5146-15_5146-9delinsCGCCTCT) c.5056-15_5056-9delinsCGCCTCT (n.5056-15_5056-9delinsCGCCTCT) c.5181-15_5181-9delinsCGCCTCT n.3344-15_3344-9delinsCGCCTCT c.5254-15_5254-9delinsCGCCTCT (n.5254-15_5254-9delinsCGCCTCT) n.4075-15_4075-9delinsCGCCTCT n.2512-15_2512-9delinsCGCCTCT n.2483-15_2483-9delinsCGCCTCT n.2373-15_2373-9delinsCGCCTCT c.4915-15_4915-9delinsCGCCTCT (n.4915-15_4915-9delinsCGCCTCT) c.*4427-15_*4427-9delinsCGCCTCT (n.*4427-15_*4427-9delinsCGCCTCT) c.4951-15_4951-9delinsCGCCTCT (n.4951-15_4951-9delinsCGCCTCT) n.2983-15_2983-9delinsCGCCTCT c.1442-15_1442-9delinsCGCCTCT n.2375-15_2375-9delinsCGCCTCT c.5314-15_5314-9delinsCGCCTCT (n.5314-15_5314-9delinsCGCCTCT) c.5311-15_5311-9delinsCGCCTCT (n.5311-15_5311-9delinsCGCCTCT) c.5203-15_5203-9delinsCGCCTCT (n.5203-15_5203-9delinsCGCCTCT) c.5182-15_5182-9delinsCGCCTCT (n.5182-15_5182-9delinsCGCCTCT) c.4528-15_4528-9delinsCGCCTCT (n.4528-15_4528-9delinsCGCCTCT) c.5476-15_5476-9delinsCGCCTCT (n.5476-15_5476-9delinsCGCCTCT) c.5224-15_5224-9delinsCGCCTCT (n.5224-15_5224-9delinsCGCCTCT) c.3970-15_3970-9delinsCGCCTCT (n.3970-15_3970-9delinsCGCCTCT) | |
16 | g.2088432G>A | CA054719 | TSC2 | c.*3609-14G>A (n.*3609-14G>A) c.5107-14G>A (n.5107-14G>A) c.5257-14G>A (n.5257-14G>A) c.*5773-14G>A (n.*5773-14G>A) c.*8009-14G>A (n.*8009-14G>A) c.5260-14G>A (n.5260-14G>A) c.5191-14G>A (n.5191-14G>A) c.5059-14G>A (n.5059-14G>A) c.5092-14G>A (n.5092-14G>A) c.1483-14G>A n.3142-14G>A c.3914-14G>A c.5119-14G>A (n.5119-14G>A) n.857-14G>A c.5062-14G>A (n.5062-14G>A) c.5128-14G>A (n.5128-14G>A) c.5053-14G>A (n.5053-14G>A) n.2908-14G>A c.5185-14G>A (n.5185-14G>A) c.5131-14G>A (n.5131-14G>A) c.5146-14G>A (n.5146-14G>A) c.5056-14G>A (n.5056-14G>A) c.5181-14G>A n.3344-14G>A c.5254-14G>A (n.5254-14G>A) n.4075-14G>A n.2512-14G>A n.2483-14G>A n.2373-14G>A c.4915-14G>A (n.4915-14G>A) c.*4427-14G>A (n.*4427-14G>A) c.4951-14G>A (n.4951-14G>A) n.2983-14G>A c.1442-14G>A n.2375-14G>A c.5314-14G>A (n.5314-14G>A) c.5311-14G>A (n.5311-14G>A) c.5203-14G>A (n.5203-14G>A) c.5182-14G>A (n.5182-14G>A) c.4528-14G>A (n.4528-14G>A) c.5476-14G>A (n.5476-14G>A) c.5224-14G>A (n.5224-14G>A) c.3970-14G>A (n.3970-14G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088432G>C | CA2631119328 | TSC2 | c.*3609-14G>C (n.*3609-14G>C) c.5107-14G>C (n.5107-14G>C) c.5257-14G>C (n.5257-14G>C) c.*5773-14G>C (n.*5773-14G>C) c.*8009-14G>C (n.*8009-14G>C) c.5260-14G>C (n.5260-14G>C) c.5191-14G>C (n.5191-14G>C) c.5059-14G>C (n.5059-14G>C) c.5092-14G>C (n.5092-14G>C) c.1483-14G>C n.3142-14G>C c.3914-14G>C c.5119-14G>C (n.5119-14G>C) n.857-14G>C c.5062-14G>C (n.5062-14G>C) c.5128-14G>C (n.5128-14G>C) c.5053-14G>C (n.5053-14G>C) n.2908-14G>C c.5185-14G>C (n.5185-14G>C) c.5131-14G>C (n.5131-14G>C) c.5146-14G>C (n.5146-14G>C) c.5056-14G>C (n.5056-14G>C) c.5181-14G>C n.3344-14G>C c.5254-14G>C (n.5254-14G>C) n.4075-14G>C n.2512-14G>C n.2483-14G>C n.2373-14G>C c.4915-14G>C (n.4915-14G>C) c.*4427-14G>C (n.*4427-14G>C) c.4951-14G>C (n.4951-14G>C) n.2983-14G>C c.1442-14G>C n.2375-14G>C c.5314-14G>C (n.5314-14G>C) c.5311-14G>C (n.5311-14G>C) c.5203-14G>C (n.5203-14G>C) c.5182-14G>C (n.5182-14G>C) c.4528-14G>C (n.4528-14G>C) c.5476-14G>C (n.5476-14G>C) c.5224-14G>C (n.5224-14G>C) c.3970-14G>C (n.3970-14G>C) | gnomAD v4 |
16 | g.2088432G= | CA2202033155 | TSC2 | c.*3609-14G= (n.*3609-14G=) c.5107-14G= (n.5107-14G=) c.5257-14G= (n.5257-14G=) c.*5773-14G= (n.*5773-14G=) c.*8009-14G= (n.*8009-14G=) c.5260-14G= (n.5260-14G=) c.5191-14G= (n.5191-14G=) c.5059-14G= (n.5059-14G=) c.5092-14G= (n.5092-14G=) c.1483-14G= n.3142-14G= c.3914-14G= c.5119-14G= (n.5119-14G=) n.857-14G= c.5062-14G= (n.5062-14G=) c.5128-14G= (n.5128-14G=) c.5053-14G= (n.5053-14G=) n.2908-14G= c.5185-14G= (n.5185-14G=) c.5131-14G= (n.5131-14G=) c.5146-14G= (n.5146-14G=) c.5056-14G= (n.5056-14G=) c.5181-14G= n.3344-14G= c.5254-14G= (n.5254-14G=) n.4075-14G= n.2512-14G= n.2483-14G= n.2373-14G= c.4915-14G= (n.4915-14G=) c.*4427-14G= (n.*4427-14G=) c.4951-14G= (n.4951-14G=) n.2983-14G= c.1442-14G= n.2375-14G= c.5314-14G= (n.5314-14G=) c.5311-14G= (n.5311-14G=) c.5203-14G= (n.5203-14G=) c.5182-14G= (n.5182-14G=) c.4528-14G= (n.4528-14G=) c.5476-14G= (n.5476-14G=) c.5224-14G= (n.5224-14G=) c.3970-14G= (n.3970-14G=) | |
16 | g.2088432G>T | CA2573151984 | TSC2 | c.*3609-14G>T (n.*3609-14G>T) c.5107-14G>T (n.5107-14G>T) c.5257-14G>T (n.5257-14G>T) c.*5773-14G>T (n.*5773-14G>T) c.*8009-14G>T (n.*8009-14G>T) c.5260-14G>T (n.5260-14G>T) c.5191-14G>T (n.5191-14G>T) c.5059-14G>T (n.5059-14G>T) c.5092-14G>T (n.5092-14G>T) c.1483-14G>T n.3142-14G>T c.3914-14G>T c.5119-14G>T (n.5119-14G>T) n.857-14G>T c.5062-14G>T (n.5062-14G>T) c.5128-14G>T (n.5128-14G>T) c.5053-14G>T (n.5053-14G>T) n.2908-14G>T c.5185-14G>T (n.5185-14G>T) c.5131-14G>T (n.5131-14G>T) c.5146-14G>T (n.5146-14G>T) c.5056-14G>T (n.5056-14G>T) c.5181-14G>T n.3344-14G>T c.5254-14G>T (n.5254-14G>T) n.4075-14G>T n.2512-14G>T n.2483-14G>T n.2373-14G>T c.4915-14G>T (n.4915-14G>T) c.*4427-14G>T (n.*4427-14G>T) c.4951-14G>T (n.4951-14G>T) n.2983-14G>T c.1442-14G>T n.2375-14G>T c.5314-14G>T (n.5314-14G>T) c.5311-14G>T (n.5311-14G>T) c.5203-14G>T (n.5203-14G>T) c.5182-14G>T (n.5182-14G>T) c.4528-14G>T (n.4528-14G>T) c.5476-14G>T (n.5476-14G>T) c.5224-14G>T (n.5224-14G>T) c.3970-14G>T (n.3970-14G>T) | ClinVar dbSNP |
16 | g.2088433_2088434insTTGC | CA2697549444 | TSC2 | c.*3609-13_*3609-12insTTGC (n.*3609-13_*3609-12insTTGC) c.5107-13_5107-12insTTGC (n.5107-13_5107-12insTTGC) c.5257-13_5257-12insTTGC (n.5257-13_5257-12insTTGC) c.*5773-13_*5773-12insTTGC (n.*5773-13_*5773-12insTTGC) c.*8009-13_*8009-12insTTGC (n.*8009-13_*8009-12insTTGC) c.5260-13_5260-12insTTGC (n.5260-13_5260-12insTTGC) c.5191-13_5191-12insTTGC (n.5191-13_5191-12insTTGC) c.5059-13_5059-12insTTGC (n.5059-13_5059-12insTTGC) c.5092-13_5092-12insTTGC (n.5092-13_5092-12insTTGC) c.1483-13_1483-12insTTGC n.3142-13_3142-12insTTGC c.3914-13_3914-12insTTGC c.5119-13_5119-12insTTGC (n.5119-13_5119-12insTTGC) n.857-13_857-12insTTGC c.5062-13_5062-12insTTGC (n.5062-13_5062-12insTTGC) c.5128-13_5128-12insTTGC (n.5128-13_5128-12insTTGC) c.5053-13_5053-12insTTGC (n.5053-13_5053-12insTTGC) n.2908-13_2908-12insTTGC c.5185-13_5185-12insTTGC (n.5185-13_5185-12insTTGC) c.5131-13_5131-12insTTGC (n.5131-13_5131-12insTTGC) c.5146-13_5146-12insTTGC (n.5146-13_5146-12insTTGC) c.5056-13_5056-12insTTGC (n.5056-13_5056-12insTTGC) c.5181-13_5181-12insTTGC n.3344-13_3344-12insTTGC c.5254-13_5254-12insTTGC (n.5254-13_5254-12insTTGC) n.4075-13_4075-12insTTGC n.2512-13_2512-12insTTGC n.2483-13_2483-12insTTGC n.2373-13_2373-12insTTGC c.4915-13_4915-12insTTGC (n.4915-13_4915-12insTTGC) c.*4427-13_*4427-12insTTGC (n.*4427-13_*4427-12insTTGC) c.4951-13_4951-12insTTGC (n.4951-13_4951-12insTTGC) n.2983-13_2983-12insTTGC c.1442-13_1442-12insTTGC n.2375-13_2375-12insTTGC c.5314-13_5314-12insTTGC (n.5314-13_5314-12insTTGC) c.5311-13_5311-12insTTGC (n.5311-13_5311-12insTTGC) c.5203-13_5203-12insTTGC (n.5203-13_5203-12insTTGC) c.5182-13_5182-12insTTGC (n.5182-13_5182-12insTTGC) c.4528-13_4528-12insTTGC (n.4528-13_4528-12insTTGC) c.5476-13_5476-12insTTGC (n.5476-13_5476-12insTTGC) c.5224-13_5224-12insTTGC (n.5224-13_5224-12insTTGC) c.3970-13_3970-12insTTGC (n.3970-13_3970-12insTTGC) | ClinVar |
16 | g.2088436_2088441del | CA054721 | TSC2 | c.*3609-10_*3609-5del (n.*3609-10_*3609-5del) c.5107-10_5107-5del (n.5107-10_5107-5del) c.5257-10_5257-5del (n.5257-10_5257-5del) c.*5773-10_*5773-5del (n.*5773-10_*5773-5del) c.*8009-10_*8009-5del (n.*8009-10_*8009-5del) c.5260-10_5260-5del (n.5260-10_5260-5del) c.5191-10_5191-5del (n.5191-10_5191-5del) c.5059-10_5059-5del (n.5059-10_5059-5del) c.5092-10_5092-5del (n.5092-10_5092-5del) c.1483-10_1483-5del n.3142-10_3142-5del c.3914-10_3914-5del c.5119-10_5119-5del (n.5119-10_5119-5del) n.857-10_857-5del c.5062-10_5062-5del (n.5062-10_5062-5del) c.5128-10_5128-5del (n.5128-10_5128-5del) c.5053-10_5053-5del (n.5053-10_5053-5del) n.2908-10_2908-5del c.5185-10_5185-5del (n.5185-10_5185-5del) c.5131-10_5131-5del (n.5131-10_5131-5del) c.5146-10_5146-5del (n.5146-10_5146-5del) c.5056-10_5056-5del (n.5056-10_5056-5del) c.5181-10_5181-5del n.3344-10_3344-5del c.5254-10_5254-5del (n.5254-10_5254-5del) n.4075-10_4075-5del n.2512-10_2512-5del n.2483-10_2483-5del n.2373-10_2373-5del c.4915-10_4915-5del (n.4915-10_4915-5del) c.*4427-10_*4427-5del (n.*4427-10_*4427-5del) c.4951-10_4951-5del (n.4951-10_4951-5del) n.2983-10_2983-5del c.1442-10_1442-5del n.2375-10_2375-5del c.5314-10_5314-5del (n.5314-10_5314-5del) c.5311-10_5311-5del (n.5311-10_5311-5del) c.5203-10_5203-5del (n.5203-10_5203-5del) c.5182-10_5182-5del (n.5182-10_5182-5del) c.4528-10_4528-5del (n.4528-10_4528-5del) c.5476-10_5476-5del (n.5476-10_5476-5del) c.5224-10_5224-5del (n.5224-10_5224-5del) c.3970-10_3970-5del (n.3970-10_3970-5del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088433C>A | CA2573151985 | TSC2 | c.*3609-13C>A (n.*3609-13C>A) c.5107-13C>A (n.5107-13C>A) c.5257-13C>A (n.5257-13C>A) c.*5773-13C>A (n.*5773-13C>A) c.*8009-13C>A (n.*8009-13C>A) c.5260-13C>A (n.5260-13C>A) c.5191-13C>A (n.5191-13C>A) c.5059-13C>A (n.5059-13C>A) c.5092-13C>A (n.5092-13C>A) c.1483-13C>A n.3142-13C>A c.3914-13C>A c.5119-13C>A (n.5119-13C>A) n.857-13C>A c.5062-13C>A (n.5062-13C>A) c.5128-13C>A (n.5128-13C>A) c.5053-13C>A (n.5053-13C>A) n.2908-13C>A c.5185-13C>A (n.5185-13C>A) c.5131-13C>A (n.5131-13C>A) c.5146-13C>A (n.5146-13C>A) c.5056-13C>A (n.5056-13C>A) c.5181-13C>A n.3344-13C>A c.5254-13C>A (n.5254-13C>A) n.4075-13C>A n.2512-13C>A n.2483-13C>A n.2373-13C>A c.4915-13C>A (n.4915-13C>A) c.*4427-13C>A (n.*4427-13C>A) c.4951-13C>A (n.4951-13C>A) n.2983-13C>A c.1442-13C>A n.2375-13C>A c.5314-13C>A (n.5314-13C>A) c.5311-13C>A (n.5311-13C>A) c.5203-13C>A (n.5203-13C>A) c.5182-13C>A (n.5182-13C>A) c.4528-13C>A (n.4528-13C>A) c.5476-13C>A (n.5476-13C>A) c.5224-13C>A (n.5224-13C>A) c.3970-13C>A (n.3970-13C>A) | ClinVar dbSNP |
16 | g.2088433C= | CA2202033158 | TSC2 | c.*3609-13C= (n.*3609-13C=) c.5107-13C= (n.5107-13C=) c.5257-13C= (n.5257-13C=) c.*5773-13C= (n.*5773-13C=) c.*8009-13C= (n.*8009-13C=) c.5260-13C= (n.5260-13C=) c.5191-13C= (n.5191-13C=) c.5059-13C= (n.5059-13C=) c.5092-13C= (n.5092-13C=) c.1483-13C= n.3142-13C= c.3914-13C= c.5119-13C= (n.5119-13C=) n.857-13C= c.5062-13C= (n.5062-13C=) c.5128-13C= (n.5128-13C=) c.5053-13C= (n.5053-13C=) n.2908-13C= c.5185-13C= (n.5185-13C=) c.5131-13C= (n.5131-13C=) c.5146-13C= (n.5146-13C=) c.5056-13C= (n.5056-13C=) c.5181-13C= n.3344-13C= c.5254-13C= (n.5254-13C=) n.4075-13C= n.2512-13C= n.2483-13C= n.2373-13C= c.4915-13C= (n.4915-13C=) c.*4427-13C= (n.*4427-13C=) c.4951-13C= (n.4951-13C=) n.2983-13C= c.1442-13C= n.2375-13C= c.5314-13C= (n.5314-13C=) c.5311-13C= (n.5311-13C=) c.5203-13C= (n.5203-13C=) c.5182-13C= (n.5182-13C=) c.4528-13C= (n.4528-13C=) c.5476-13C= (n.5476-13C=) c.5224-13C= (n.5224-13C=) c.3970-13C= (n.3970-13C=) | |
16 | g.2088433C>T | CA718905476 | TSC2 | c.*3609-13C>T (n.*3609-13C>T) c.5107-13C>T (n.5107-13C>T) c.5257-13C>T (n.5257-13C>T) c.*5773-13C>T (n.*5773-13C>T) c.*8009-13C>T (n.*8009-13C>T) c.5260-13C>T (n.5260-13C>T) c.5191-13C>T (n.5191-13C>T) c.5059-13C>T (n.5059-13C>T) c.5092-13C>T (n.5092-13C>T) c.1483-13C>T n.3142-13C>T c.3914-13C>T c.5119-13C>T (n.5119-13C>T) n.857-13C>T c.5062-13C>T (n.5062-13C>T) c.5128-13C>T (n.5128-13C>T) c.5053-13C>T (n.5053-13C>T) n.2908-13C>T c.5185-13C>T (n.5185-13C>T) c.5131-13C>T (n.5131-13C>T) c.5146-13C>T (n.5146-13C>T) c.5056-13C>T (n.5056-13C>T) c.5181-13C>T n.3344-13C>T c.5254-13C>T (n.5254-13C>T) n.4075-13C>T n.2512-13C>T n.2483-13C>T n.2373-13C>T c.4915-13C>T (n.4915-13C>T) c.*4427-13C>T (n.*4427-13C>T) c.4951-13C>T (n.4951-13C>T) n.2983-13C>T c.1442-13C>T n.2375-13C>T c.5314-13C>T (n.5314-13C>T) c.5311-13C>T (n.5311-13C>T) c.5203-13C>T (n.5203-13C>T) c.5182-13C>T (n.5182-13C>T) c.4528-13C>T (n.4528-13C>T) c.5476-13C>T (n.5476-13C>T) c.5224-13C>T (n.5224-13C>T) c.3970-13C>T (n.3970-13C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088434C= | CA2202033163 | TSC2 | c.*3609-12C= (n.*3609-12C=) c.5107-12C= (n.5107-12C=) c.5257-12C= (n.5257-12C=) c.*5773-12C= (n.*5773-12C=) c.*8009-12C= (n.*8009-12C=) c.5260-12C= (n.5260-12C=) c.5191-12C= (n.5191-12C=) c.5059-12C= (n.5059-12C=) c.5092-12C= (n.5092-12C=) c.1483-12C= n.3142-12C= c.3914-12C= c.5119-12C= (n.5119-12C=) n.857-12C= c.5062-12C= (n.5062-12C=) c.5128-12C= (n.5128-12C=) c.5053-12C= (n.5053-12C=) n.2908-12C= c.5185-12C= (n.5185-12C=) c.5131-12C= (n.5131-12C=) c.5146-12C= (n.5146-12C=) c.5056-12C= (n.5056-12C=) c.5181-12C= n.3344-12C= c.5254-12C= (n.5254-12C=) n.4075-12C= n.2512-12C= n.2483-12C= n.2373-12C= c.4915-12C= (n.4915-12C=) c.*4427-12C= (n.*4427-12C=) c.4951-12C= (n.4951-12C=) n.2983-12C= c.1442-12C= n.2375-12C= c.5314-12C= (n.5314-12C=) c.5311-12C= (n.5311-12C=) c.5203-12C= (n.5203-12C=) c.5182-12C= (n.5182-12C=) c.4528-12C= (n.4528-12C=) c.5476-12C= (n.5476-12C=) c.5224-12C= (n.5224-12C=) c.3970-12C= (n.3970-12C=) | |
16 | g.2088434C>T | CA054715 | TSC2 | c.*3609-12C>T (n.*3609-12C>T) c.5107-12C>T (n.5107-12C>T) c.5257-12C>T (n.5257-12C>T) c.*5773-12C>T (n.*5773-12C>T) c.*8009-12C>T (n.*8009-12C>T) c.5260-12C>T (n.5260-12C>T) c.5191-12C>T (n.5191-12C>T) c.5059-12C>T (n.5059-12C>T) c.5092-12C>T (n.5092-12C>T) c.1483-12C>T n.3142-12C>T c.3914-12C>T c.5119-12C>T (n.5119-12C>T) n.857-12C>T c.5062-12C>T (n.5062-12C>T) c.5128-12C>T (n.5128-12C>T) c.5053-12C>T (n.5053-12C>T) n.2908-12C>T c.5185-12C>T (n.5185-12C>T) c.5131-12C>T (n.5131-12C>T) c.5146-12C>T (n.5146-12C>T) c.5056-12C>T (n.5056-12C>T) c.5181-12C>T n.3344-12C>T c.5254-12C>T (n.5254-12C>T) n.4075-12C>T n.2512-12C>T n.2483-12C>T n.2373-12C>T c.4915-12C>T (n.4915-12C>T) c.*4427-12C>T (n.*4427-12C>T) c.4951-12C>T (n.4951-12C>T) n.2983-12C>T c.1442-12C>T n.2375-12C>T c.5314-12C>T (n.5314-12C>T) c.5311-12C>T (n.5311-12C>T) c.5203-12C>T (n.5203-12C>T) c.5182-12C>T (n.5182-12C>T) c.4528-12C>T (n.4528-12C>T) c.5476-12C>T (n.5476-12C>T) c.5224-12C>T (n.5224-12C>T) c.3970-12C>T (n.3970-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088435T>A | CA2580091177 | TSC2 | c.*3609-11T>A (n.*3609-11T>A) c.5107-11T>A (n.5107-11T>A) c.5257-11T>A (n.5257-11T>A) c.*5773-11T>A (n.*5773-11T>A) c.*8009-11T>A (n.*8009-11T>A) c.5260-11T>A (n.5260-11T>A) c.5191-11T>A (n.5191-11T>A) c.5059-11T>A (n.5059-11T>A) c.5092-11T>A (n.5092-11T>A) c.1483-11T>A n.3142-11T>A c.3914-11T>A c.5119-11T>A (n.5119-11T>A) n.857-11T>A c.5062-11T>A (n.5062-11T>A) c.5128-11T>A (n.5128-11T>A) c.5053-11T>A (n.5053-11T>A) n.2908-11T>A c.5185-11T>A (n.5185-11T>A) c.5131-11T>A (n.5131-11T>A) c.5146-11T>A (n.5146-11T>A) c.5056-11T>A (n.5056-11T>A) c.5181-11T>A n.3344-11T>A c.5254-11T>A (n.5254-11T>A) n.4075-11T>A n.2512-11T>A n.2483-11T>A n.2373-11T>A c.4915-11T>A (n.4915-11T>A) c.*4427-11T>A (n.*4427-11T>A) c.4951-11T>A (n.4951-11T>A) n.2983-11T>A c.1442-11T>A n.2375-11T>A c.5314-11T>A (n.5314-11T>A) c.5311-11T>A (n.5311-11T>A) c.5203-11T>A (n.5203-11T>A) c.5182-11T>A (n.5182-11T>A) c.4528-11T>A (n.4528-11T>A) c.5476-11T>A (n.5476-11T>A) c.5224-11T>A (n.5224-11T>A) c.3970-11T>A (n.3970-11T>A) | ClinVar |
16 | g.2088435T>C | CA2631119342 | TSC2 | c.*3609-11T>C (n.*3609-11T>C) c.5107-11T>C (n.5107-11T>C) c.5257-11T>C (n.5257-11T>C) c.*5773-11T>C (n.*5773-11T>C) c.*8009-11T>C (n.*8009-11T>C) c.5260-11T>C (n.5260-11T>C) c.5191-11T>C (n.5191-11T>C) c.5059-11T>C (n.5059-11T>C) c.5092-11T>C (n.5092-11T>C) c.1483-11T>C n.3142-11T>C c.3914-11T>C c.5119-11T>C (n.5119-11T>C) n.857-11T>C c.5062-11T>C (n.5062-11T>C) c.5128-11T>C (n.5128-11T>C) c.5053-11T>C (n.5053-11T>C) n.2908-11T>C c.5185-11T>C (n.5185-11T>C) c.5131-11T>C (n.5131-11T>C) c.5146-11T>C (n.5146-11T>C) c.5056-11T>C (n.5056-11T>C) c.5181-11T>C n.3344-11T>C c.5254-11T>C (n.5254-11T>C) n.4075-11T>C n.2512-11T>C n.2483-11T>C n.2373-11T>C c.4915-11T>C (n.4915-11T>C) c.*4427-11T>C (n.*4427-11T>C) c.4951-11T>C (n.4951-11T>C) n.2983-11T>C c.1442-11T>C n.2375-11T>C c.5314-11T>C (n.5314-11T>C) c.5311-11T>C (n.5311-11T>C) c.5203-11T>C (n.5203-11T>C) c.5182-11T>C (n.5182-11T>C) c.4528-11T>C (n.4528-11T>C) c.5476-11T>C (n.5476-11T>C) c.5224-11T>C (n.5224-11T>C) c.3970-11T>C (n.3970-11T>C) | gnomAD v4 |
16 | g.2088436C= | CA2202033169 | TSC2 | c.*3609-10C= (n.*3609-10C=) c.5107-10C= (n.5107-10C=) c.5257-10C= (n.5257-10C=) c.*5773-10C= (n.*5773-10C=) c.*8009-10C= (n.*8009-10C=) c.5260-10C= (n.5260-10C=) c.5191-10C= (n.5191-10C=) c.5059-10C= (n.5059-10C=) c.5092-10C= (n.5092-10C=) c.1483-10C= n.3142-10C= c.3914-10C= c.5119-10C= (n.5119-10C=) n.857-10C= c.5062-10C= (n.5062-10C=) c.5128-10C= (n.5128-10C=) c.5053-10C= (n.5053-10C=) n.2908-10C= c.5185-10C= (n.5185-10C=) c.5131-10C= (n.5131-10C=) c.5146-10C= (n.5146-10C=) c.5056-10C= (n.5056-10C=) c.5181-10C= n.3344-10C= c.5254-10C= (n.5254-10C=) n.4075-10C= n.2512-10C= n.2483-10C= n.2373-10C= c.4915-10C= (n.4915-10C=) c.*4427-10C= (n.*4427-10C=) c.4951-10C= (n.4951-10C=) n.2983-10C= c.1442-10C= n.2375-10C= c.5314-10C= (n.5314-10C=) c.5311-10C= (n.5311-10C=) c.5203-10C= (n.5203-10C=) c.5182-10C= (n.5182-10C=) c.4528-10C= (n.4528-10C=) c.5476-10C= (n.5476-10C=) c.5224-10C= (n.5224-10C=) c.3970-10C= (n.3970-10C=) | |
16 | g.2088436C>G | CA2202033181 | TSC2 | c.*3609-10C>G (n.*3609-10C>G) c.5107-10C>G (n.5107-10C>G) c.5257-10C>G (n.5257-10C>G) c.*5773-10C>G (n.*5773-10C>G) c.*8009-10C>G (n.*8009-10C>G) c.5260-10C>G (n.5260-10C>G) c.5191-10C>G (n.5191-10C>G) c.5059-10C>G (n.5059-10C>G) c.5092-10C>G (n.5092-10C>G) c.1483-10C>G n.3142-10C>G c.3914-10C>G c.5119-10C>G (n.5119-10C>G) n.857-10C>G c.5062-10C>G (n.5062-10C>G) c.5128-10C>G (n.5128-10C>G) c.5053-10C>G (n.5053-10C>G) n.2908-10C>G c.5185-10C>G (n.5185-10C>G) c.5131-10C>G (n.5131-10C>G) c.5146-10C>G (n.5146-10C>G) c.5056-10C>G (n.5056-10C>G) c.5181-10C>G n.3344-10C>G c.5254-10C>G (n.5254-10C>G) n.4075-10C>G n.2512-10C>G n.2483-10C>G n.2373-10C>G c.4915-10C>G (n.4915-10C>G) c.*4427-10C>G (n.*4427-10C>G) c.4951-10C>G (n.4951-10C>G) n.2983-10C>G c.1442-10C>G n.2375-10C>G c.5314-10C>G (n.5314-10C>G) c.5311-10C>G (n.5311-10C>G) c.5203-10C>G (n.5203-10C>G) c.5182-10C>G (n.5182-10C>G) c.4528-10C>G (n.4528-10C>G) c.5476-10C>G (n.5476-10C>G) c.5224-10C>G (n.5224-10C>G) c.3970-10C>G (n.3970-10C>G) | ClinVar dbSNP |
16 | g.2088436C>T | CA2202033172 | TSC2 | c.*3609-10C>T (n.*3609-10C>T) c.5107-10C>T (n.5107-10C>T) c.5257-10C>T (n.5257-10C>T) c.*5773-10C>T (n.*5773-10C>T) c.*8009-10C>T (n.*8009-10C>T) c.5260-10C>T (n.5260-10C>T) c.5191-10C>T (n.5191-10C>T) c.5059-10C>T (n.5059-10C>T) c.5092-10C>T (n.5092-10C>T) c.1483-10C>T n.3142-10C>T c.3914-10C>T c.5119-10C>T (n.5119-10C>T) n.857-10C>T c.5062-10C>T (n.5062-10C>T) c.5128-10C>T (n.5128-10C>T) c.5053-10C>T (n.5053-10C>T) n.2908-10C>T c.5185-10C>T (n.5185-10C>T) c.5131-10C>T (n.5131-10C>T) c.5146-10C>T (n.5146-10C>T) c.5056-10C>T (n.5056-10C>T) c.5181-10C>T n.3344-10C>T c.5254-10C>T (n.5254-10C>T) n.4075-10C>T n.2512-10C>T n.2483-10C>T n.2373-10C>T c.4915-10C>T (n.4915-10C>T) c.*4427-10C>T (n.*4427-10C>T) c.4951-10C>T (n.4951-10C>T) n.2983-10C>T c.1442-10C>T n.2375-10C>T c.5314-10C>T (n.5314-10C>T) c.5311-10C>T (n.5311-10C>T) c.5203-10C>T (n.5203-10C>T) c.5182-10C>T (n.5182-10C>T) c.4528-10C>T (n.4528-10C>T) c.5476-10C>T (n.5476-10C>T) c.5224-10C>T (n.5224-10C>T) c.3970-10C>T (n.3970-10C>T) | ClinVar dbSNP 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.2088437T>C | CA054815 | TSC2 | c.*3609-9T>C (n.*3609-9T>C) c.5107-9T>C (n.5107-9T>C) c.5257-9T>C (n.5257-9T>C) c.*5773-9T>C (n.*5773-9T>C) c.*8009-9T>C (n.*8009-9T>C) c.5260-9T>C (n.5260-9T>C) c.5191-9T>C (n.5191-9T>C) c.5059-9T>C (n.5059-9T>C) c.5092-9T>C (n.5092-9T>C) c.1483-9T>C n.3142-9T>C c.3914-9T>C c.5119-9T>C (n.5119-9T>C) n.857-9T>C c.5062-9T>C (n.5062-9T>C) c.5128-9T>C (n.5128-9T>C) c.5053-9T>C (n.5053-9T>C) n.2908-9T>C c.5185-9T>C (n.5185-9T>C) c.5131-9T>C (n.5131-9T>C) c.5146-9T>C (n.5146-9T>C) c.5056-9T>C (n.5056-9T>C) c.5181-9T>C n.3344-9T>C c.5254-9T>C (n.5254-9T>C) n.4075-9T>C n.2512-9T>C n.2483-9T>C n.2373-9T>C c.4915-9T>C (n.4915-9T>C) c.*4427-9T>C (n.*4427-9T>C) c.4951-9T>C (n.4951-9T>C) n.2983-9T>C c.1442-9T>C n.2375-9T>C c.5314-9T>C (n.5314-9T>C) c.5311-9T>C (n.5311-9T>C) c.5203-9T>C (n.5203-9T>C) c.5182-9T>C (n.5182-9T>C) c.4528-9T>C (n.4528-9T>C) c.5476-9T>C (n.5476-9T>C) c.5224-9T>C (n.5224-9T>C) c.3970-9T>C (n.3970-9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088437T= | CA2202033196 | TSC2 | c.*3609-9T= (n.*3609-9T=) c.5107-9T= (n.5107-9T=) c.5257-9T= (n.5257-9T=) c.*5773-9T= (n.*5773-9T=) c.*8009-9T= (n.*8009-9T=) c.5260-9T= (n.5260-9T=) c.5191-9T= (n.5191-9T=) c.5059-9T= (n.5059-9T=) c.5092-9T= (n.5092-9T=) c.1483-9T= n.3142-9T= c.3914-9T= c.5119-9T= (n.5119-9T=) n.857-9T= c.5062-9T= (n.5062-9T=) c.5128-9T= (n.5128-9T=) c.5053-9T= (n.5053-9T=) n.2908-9T= c.5185-9T= (n.5185-9T=) c.5131-9T= (n.5131-9T=) c.5146-9T= (n.5146-9T=) c.5056-9T= (n.5056-9T=) c.5181-9T= n.3344-9T= c.5254-9T= (n.5254-9T=) n.4075-9T= n.2512-9T= n.2483-9T= n.2373-9T= c.4915-9T= (n.4915-9T=) c.*4427-9T= (n.*4427-9T=) c.4951-9T= (n.4951-9T=) n.2983-9T= c.1442-9T= n.2375-9T= c.5314-9T= (n.5314-9T=) c.5311-9T= (n.5311-9T=) c.5203-9T= (n.5203-9T=) c.5182-9T= (n.5182-9T=) c.4528-9T= (n.4528-9T=) c.5476-9T= (n.5476-9T=) c.5224-9T= (n.5224-9T=) c.3970-9T= (n.3970-9T=) | |
16 | g.2088438_2088439insGTG | CA2631119350 | TSC2 | c.*3609-8_*3609-7insGTG (n.*3609-8_*3609-7insGTG) c.5107-8_5107-7insGTG (n.5107-8_5107-7insGTG) c.5257-8_5257-7insGTG (n.5257-8_5257-7insGTG) c.*5773-8_*5773-7insGTG (n.*5773-8_*5773-7insGTG) c.*8009-8_*8009-7insGTG (n.*8009-8_*8009-7insGTG) c.5260-8_5260-7insGTG (n.5260-8_5260-7insGTG) c.5191-8_5191-7insGTG (n.5191-8_5191-7insGTG) c.5059-8_5059-7insGTG (n.5059-8_5059-7insGTG) c.5092-8_5092-7insGTG (n.5092-8_5092-7insGTG) c.1483-8_1483-7insGTG n.3142-8_3142-7insGTG c.3914-8_3914-7insGTG c.5119-8_5119-7insGTG (n.5119-8_5119-7insGTG) n.857-8_857-7insGTG c.5062-8_5062-7insGTG (n.5062-8_5062-7insGTG) c.5128-8_5128-7insGTG (n.5128-8_5128-7insGTG) c.5053-8_5053-7insGTG (n.5053-8_5053-7insGTG) n.2908-8_2908-7insGTG c.5185-8_5185-7insGTG (n.5185-8_5185-7insGTG) c.5131-8_5131-7insGTG (n.5131-8_5131-7insGTG) c.5146-8_5146-7insGTG (n.5146-8_5146-7insGTG) c.5056-8_5056-7insGTG (n.5056-8_5056-7insGTG) c.5181-8_5181-7insGTG n.3344-8_3344-7insGTG c.5254-8_5254-7insGTG (n.5254-8_5254-7insGTG) n.4075-8_4075-7insGTG n.2512-8_2512-7insGTG n.2483-8_2483-7insGTG n.2373-8_2373-7insGTG c.4915-8_4915-7insGTG (n.4915-8_4915-7insGTG) c.*4427-8_*4427-7insGTG (n.*4427-8_*4427-7insGTG) c.4951-8_4951-7insGTG (n.4951-8_4951-7insGTG) n.2983-8_2983-7insGTG c.1442-8_1442-7insGTG n.2375-8_2375-7insGTG c.5314-8_5314-7insGTG (n.5314-8_5314-7insGTG) c.5311-8_5311-7insGTG (n.5311-8_5311-7insGTG) c.5203-8_5203-7insGTG (n.5203-8_5203-7insGTG) c.5182-8_5182-7insGTG (n.5182-8_5182-7insGTG) c.4528-8_4528-7insGTG (n.4528-8_4528-7insGTG) c.5476-8_5476-7insGTG (n.5476-8_5476-7insGTG) c.5224-8_5224-7insGTG (n.5224-8_5224-7insGTG) c.3970-8_3970-7insGTG (n.3970-8_3970-7insGTG) | gnomAD v4 |
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.2088438G>A | CA2580091178 | TSC2 | c.*3609-8G>A (n.*3609-8G>A) c.5107-8G>A (n.5107-8G>A) c.5257-8G>A (n.5257-8G>A) c.*5773-8G>A (n.*5773-8G>A) c.*8009-8G>A (n.*8009-8G>A) c.5260-8G>A (n.5260-8G>A) c.5191-8G>A (n.5191-8G>A) c.5059-8G>A (n.5059-8G>A) c.5092-8G>A (n.5092-8G>A) c.1483-8G>A n.3142-8G>A c.3914-8G>A c.5119-8G>A (n.5119-8G>A) n.857-8G>A c.5062-8G>A (n.5062-8G>A) c.5128-8G>A (n.5128-8G>A) c.5053-8G>A (n.5053-8G>A) n.2908-8G>A c.5185-8G>A (n.5185-8G>A) c.5131-8G>A (n.5131-8G>A) c.5146-8G>A (n.5146-8G>A) c.5056-8G>A (n.5056-8G>A) c.5181-8G>A n.3344-8G>A c.5254-8G>A (n.5254-8G>A) n.4075-8G>A n.2512-8G>A n.2483-8G>A n.2373-8G>A c.4915-8G>A (n.4915-8G>A) c.*4427-8G>A (n.*4427-8G>A) c.4951-8G>A (n.4951-8G>A) n.2983-8G>A c.1442-8G>A n.2375-8G>A c.5314-8G>A (n.5314-8G>A) c.5311-8G>A (n.5311-8G>A) c.5203-8G>A (n.5203-8G>A) c.5182-8G>A (n.5182-8G>A) c.4528-8G>A (n.4528-8G>A) c.5476-8G>A (n.5476-8G>A) c.5224-8G>A (n.5224-8G>A) c.3970-8G>A (n.3970-8G>A) | ClinVar gnomAD v4 |
16 | g.2088438G>C | CA2731831855 | TSC2 | c.*3609-8G>C (n.*3609-8G>C) c.5107-8G>C (n.5107-8G>C) c.5257-8G>C (n.5257-8G>C) c.*5773-8G>C (n.*5773-8G>C) c.*8009-8G>C (n.*8009-8G>C) c.5260-8G>C (n.5260-8G>C) c.5191-8G>C (n.5191-8G>C) c.5059-8G>C (n.5059-8G>C) c.5092-8G>C (n.5092-8G>C) c.1483-8G>C n.3142-8G>C c.3914-8G>C c.5119-8G>C (n.5119-8G>C) n.857-8G>C c.5062-8G>C (n.5062-8G>C) c.5128-8G>C (n.5128-8G>C) c.5053-8G>C (n.5053-8G>C) n.2908-8G>C c.5185-8G>C (n.5185-8G>C) c.5131-8G>C (n.5131-8G>C) c.5146-8G>C (n.5146-8G>C) c.5056-8G>C (n.5056-8G>C) c.5181-8G>C n.3344-8G>C c.5254-8G>C (n.5254-8G>C) n.4075-8G>C n.2512-8G>C n.2483-8G>C n.2373-8G>C c.4915-8G>C (n.4915-8G>C) c.*4427-8G>C (n.*4427-8G>C) c.4951-8G>C (n.4951-8G>C) n.2983-8G>C c.1442-8G>C n.2375-8G>C c.5314-8G>C (n.5314-8G>C) c.5311-8G>C (n.5311-8G>C) c.5203-8G>C (n.5203-8G>C) c.5182-8G>C (n.5182-8G>C) c.4528-8G>C (n.4528-8G>C) c.5476-8G>C (n.5476-8G>C) c.5224-8G>C (n.5224-8G>C) c.3970-8G>C (n.3970-8G>C) | dbSNP |
16 | g.2088438_2088441delinsGCCT | CA2202033200 | TSC2 | c.*3609-8_*3609-5delinsGCCT (n.*3609-8_*3609-5delinsGCCT) c.5107-8_5107-5delinsGCCT (n.5107-8_5107-5delinsGCCT) c.5257-8_5257-5delinsGCCT (n.5257-8_5257-5delinsGCCT) c.*5773-8_*5773-5delinsGCCT (n.*5773-8_*5773-5delinsGCCT) c.*8009-8_*8009-5delinsGCCT (n.*8009-8_*8009-5delinsGCCT) c.5260-8_5260-5delinsGCCT (n.5260-8_5260-5delinsGCCT) c.5191-8_5191-5delinsGCCT (n.5191-8_5191-5delinsGCCT) c.5059-8_5059-5delinsGCCT (n.5059-8_5059-5delinsGCCT) c.5092-8_5092-5delinsGCCT (n.5092-8_5092-5delinsGCCT) c.1483-8_1483-5delinsGCCT n.3142-8_3142-5delinsGCCT c.3914-8_3914-5delinsGCCT c.5119-8_5119-5delinsGCCT (n.5119-8_5119-5delinsGCCT) n.857-8_857-5delinsGCCT c.5062-8_5062-5delinsGCCT (n.5062-8_5062-5delinsGCCT) c.5128-8_5128-5delinsGCCT (n.5128-8_5128-5delinsGCCT) c.5053-8_5053-5delinsGCCT (n.5053-8_5053-5delinsGCCT) n.2908-8_2908-5delinsGCCT c.5185-8_5185-5delinsGCCT (n.5185-8_5185-5delinsGCCT) c.5131-8_5131-5delinsGCCT (n.5131-8_5131-5delinsGCCT) c.5146-8_5146-5delinsGCCT (n.5146-8_5146-5delinsGCCT) c.5056-8_5056-5delinsGCCT (n.5056-8_5056-5delinsGCCT) c.5181-8_5181-5delinsGCCT n.3344-8_3344-5delinsGCCT c.5254-8_5254-5delinsGCCT (n.5254-8_5254-5delinsGCCT) n.4075-8_4075-5delinsGCCT n.2512-8_2512-5delinsGCCT n.2483-8_2483-5delinsGCCT n.2373-8_2373-5delinsGCCT c.4915-8_4915-5delinsGCCT (n.4915-8_4915-5delinsGCCT) c.*4427-8_*4427-5delinsGCCT (n.*4427-8_*4427-5delinsGCCT) c.4951-8_4951-5delinsGCCT (n.4951-8_4951-5delinsGCCT) n.2983-8_2983-5delinsGCCT c.1442-8_1442-5delinsGCCT n.2375-8_2375-5delinsGCCT c.5314-8_5314-5delinsGCCT (n.5314-8_5314-5delinsGCCT) c.5311-8_5311-5delinsGCCT (n.5311-8_5311-5delinsGCCT) c.5203-8_5203-5delinsGCCT (n.5203-8_5203-5delinsGCCT) c.5182-8_5182-5delinsGCCT (n.5182-8_5182-5delinsGCCT) c.4528-8_4528-5delinsGCCT (n.4528-8_4528-5delinsGCCT) c.5476-8_5476-5delinsGCCT (n.5476-8_5476-5delinsGCCT) c.5224-8_5224-5delinsGCCT (n.5224-8_5224-5delinsGCCT) c.3970-8_3970-5delinsGCCT (n.3970-8_3970-5delinsGCCT) | |
16 | g.2088439C>A | CA915946267 | TSC2 | c.*3609-7C>A (n.*3609-7C>A) c.5107-7C>A (n.5107-7C>A) c.5257-7C>A (n.5257-7C>A) c.*5773-7C>A (n.*5773-7C>A) c.*8009-7C>A (n.*8009-7C>A) c.5260-7C>A (n.5260-7C>A) c.5191-7C>A (n.5191-7C>A) c.5059-7C>A (n.5059-7C>A) c.5092-7C>A (n.5092-7C>A) c.1483-7C>A n.3142-7C>A c.3914-7C>A c.5119-7C>A (n.5119-7C>A) n.857-7C>A c.5062-7C>A (n.5062-7C>A) c.5128-7C>A (n.5128-7C>A) c.5053-7C>A (n.5053-7C>A) n.2908-7C>A c.5185-7C>A (n.5185-7C>A) c.5131-7C>A (n.5131-7C>A) c.5146-7C>A (n.5146-7C>A) c.5056-7C>A (n.5056-7C>A) c.5181-7C>A n.3344-7C>A c.5254-7C>A (n.5254-7C>A) n.4075-7C>A n.2512-7C>A n.2483-7C>A n.2373-7C>A c.4915-7C>A (n.4915-7C>A) c.*4427-7C>A (n.*4427-7C>A) c.4951-7C>A (n.4951-7C>A) n.2983-7C>A c.1442-7C>A n.2375-7C>A c.5314-7C>A (n.5314-7C>A) c.5311-7C>A (n.5311-7C>A) c.5203-7C>A (n.5203-7C>A) c.5182-7C>A (n.5182-7C>A) c.4528-7C>A (n.4528-7C>A) c.5476-7C>A (n.5476-7C>A) c.5224-7C>A (n.5224-7C>A) c.3970-7C>A (n.3970-7C>A) | ClinVar dbSNP |
16 | g.2088439C= | CA2202033208 | TSC2 | c.*3609-7C= (n.*3609-7C=) c.5107-7C= (n.5107-7C=) c.5257-7C= (n.5257-7C=) c.*5773-7C= (n.*5773-7C=) c.*8009-7C= (n.*8009-7C=) c.5260-7C= (n.5260-7C=) c.5191-7C= (n.5191-7C=) c.5059-7C= (n.5059-7C=) c.5092-7C= (n.5092-7C=) c.1483-7C= n.3142-7C= c.3914-7C= c.5119-7C= (n.5119-7C=) n.857-7C= c.5062-7C= (n.5062-7C=) c.5128-7C= (n.5128-7C=) c.5053-7C= (n.5053-7C=) n.2908-7C= c.5185-7C= (n.5185-7C=) c.5131-7C= (n.5131-7C=) c.5146-7C= (n.5146-7C=) c.5056-7C= (n.5056-7C=) c.5181-7C= n.3344-7C= c.5254-7C= (n.5254-7C=) n.4075-7C= n.2512-7C= n.2483-7C= n.2373-7C= c.4915-7C= (n.4915-7C=) c.*4427-7C= (n.*4427-7C=) c.4951-7C= (n.4951-7C=) n.2983-7C= c.1442-7C= n.2375-7C= c.5314-7C= (n.5314-7C=) c.5311-7C= (n.5311-7C=) c.5203-7C= (n.5203-7C=) c.5182-7C= (n.5182-7C=) c.4528-7C= (n.4528-7C=) c.5476-7C= (n.5476-7C=) c.5224-7C= (n.5224-7C=) c.3970-7C= (n.3970-7C=) | |
16 | g.2088439C>G | CA2573151986 | TSC2 | c.*3609-7C>G (n.*3609-7C>G) c.5107-7C>G (n.5107-7C>G) c.5257-7C>G (n.5257-7C>G) c.*5773-7C>G (n.*5773-7C>G) c.*8009-7C>G (n.*8009-7C>G) c.5260-7C>G (n.5260-7C>G) c.5191-7C>G (n.5191-7C>G) c.5059-7C>G (n.5059-7C>G) c.5092-7C>G (n.5092-7C>G) c.1483-7C>G n.3142-7C>G c.3914-7C>G c.5119-7C>G (n.5119-7C>G) n.857-7C>G c.5062-7C>G (n.5062-7C>G) c.5128-7C>G (n.5128-7C>G) c.5053-7C>G (n.5053-7C>G) n.2908-7C>G c.5185-7C>G (n.5185-7C>G) c.5131-7C>G (n.5131-7C>G) c.5146-7C>G (n.5146-7C>G) c.5056-7C>G (n.5056-7C>G) c.5181-7C>G n.3344-7C>G c.5254-7C>G (n.5254-7C>G) n.4075-7C>G n.2512-7C>G n.2483-7C>G n.2373-7C>G c.4915-7C>G (n.4915-7C>G) c.*4427-7C>G (n.*4427-7C>G) c.4951-7C>G (n.4951-7C>G) n.2983-7C>G c.1442-7C>G n.2375-7C>G c.5314-7C>G (n.5314-7C>G) c.5311-7C>G (n.5311-7C>G) c.5203-7C>G (n.5203-7C>G) c.5182-7C>G (n.5182-7C>G) c.4528-7C>G (n.4528-7C>G) c.5476-7C>G (n.5476-7C>G) c.5224-7C>G (n.5224-7C>G) c.3970-7C>G (n.3970-7C>G) | ClinVar dbSNP |
16 | g.2088439C>T | CA2573151987 | TSC2 | c.*3609-7C>T (n.*3609-7C>T) c.5107-7C>T (n.5107-7C>T) c.5257-7C>T (n.5257-7C>T) c.*5773-7C>T (n.*5773-7C>T) c.*8009-7C>T (n.*8009-7C>T) c.5260-7C>T (n.5260-7C>T) c.5191-7C>T (n.5191-7C>T) c.5059-7C>T (n.5059-7C>T) c.5092-7C>T (n.5092-7C>T) c.1483-7C>T n.3142-7C>T c.3914-7C>T c.5119-7C>T (n.5119-7C>T) n.857-7C>T c.5062-7C>T (n.5062-7C>T) c.5128-7C>T (n.5128-7C>T) c.5053-7C>T (n.5053-7C>T) n.2908-7C>T c.5185-7C>T (n.5185-7C>T) c.5131-7C>T (n.5131-7C>T) c.5146-7C>T (n.5146-7C>T) c.5056-7C>T (n.5056-7C>T) c.5181-7C>T n.3344-7C>T c.5254-7C>T (n.5254-7C>T) n.4075-7C>T n.2512-7C>T n.2483-7C>T n.2373-7C>T c.4915-7C>T (n.4915-7C>T) c.*4427-7C>T (n.*4427-7C>T) c.4951-7C>T (n.4951-7C>T) n.2983-7C>T c.1442-7C>T n.2375-7C>T c.5314-7C>T (n.5314-7C>T) c.5311-7C>T (n.5311-7C>T) c.5203-7C>T (n.5203-7C>T) c.5182-7C>T (n.5182-7C>T) c.4528-7C>T (n.4528-7C>T) c.5476-7C>T (n.5476-7C>T) c.5224-7C>T (n.5224-7C>T) c.3970-7C>T (n.3970-7C>T) | ClinVar dbSNP |
16 | g.2088439_2088441delinsGTGC | CA891844205 | TSC2 | c.*3609-7_*3609-5delinsGTGC (n.*3609-7_*3609-5delinsGTGC) c.5107-7_5107-5delinsGTGC (n.5107-7_5107-5delinsGTGC) c.5257-7_5257-5delinsGTGC (n.5257-7_5257-5delinsGTGC) c.*5773-7_*5773-5delinsGTGC (n.*5773-7_*5773-5delinsGTGC) c.*8009-7_*8009-5delinsGTGC (n.*8009-7_*8009-5delinsGTGC) c.5260-7_5260-5delinsGTGC (n.5260-7_5260-5delinsGTGC) c.5191-7_5191-5delinsGTGC (n.5191-7_5191-5delinsGTGC) c.5059-7_5059-5delinsGTGC (n.5059-7_5059-5delinsGTGC) c.5092-7_5092-5delinsGTGC (n.5092-7_5092-5delinsGTGC) c.1483-7_1483-5delinsGTGC n.3142-7_3142-5delinsGTGC c.3914-7_3914-5delinsGTGC c.5119-7_5119-5delinsGTGC (n.5119-7_5119-5delinsGTGC) n.857-7_857-5delinsGTGC c.5062-7_5062-5delinsGTGC (n.5062-7_5062-5delinsGTGC) c.5128-7_5128-5delinsGTGC (n.5128-7_5128-5delinsGTGC) c.5053-7_5053-5delinsGTGC (n.5053-7_5053-5delinsGTGC) n.2908-7_2908-5delinsGTGC c.5185-7_5185-5delinsGTGC (n.5185-7_5185-5delinsGTGC) c.5131-7_5131-5delinsGTGC (n.5131-7_5131-5delinsGTGC) c.5146-7_5146-5delinsGTGC (n.5146-7_5146-5delinsGTGC) c.5056-7_5056-5delinsGTGC (n.5056-7_5056-5delinsGTGC) c.5181-7_5181-5delinsGTGC n.3344-7_3344-5delinsGTGC c.5254-7_5254-5delinsGTGC (n.5254-7_5254-5delinsGTGC) n.4075-7_4075-5delinsGTGC n.2512-7_2512-5delinsGTGC n.2483-7_2483-5delinsGTGC n.2373-7_2373-5delinsGTGC c.4915-7_4915-5delinsGTGC (n.4915-7_4915-5delinsGTGC) c.*4427-7_*4427-5delinsGTGC (n.*4427-7_*4427-5delinsGTGC) c.4951-7_4951-5delinsGTGC (n.4951-7_4951-5delinsGTGC) n.2983-7_2983-5delinsGTGC c.1442-7_1442-5delinsGTGC n.2375-7_2375-5delinsGTGC c.5314-7_5314-5delinsGTGC (n.5314-7_5314-5delinsGTGC) c.5311-7_5311-5delinsGTGC (n.5311-7_5311-5delinsGTGC) c.5203-7_5203-5delinsGTGC (n.5203-7_5203-5delinsGTGC) c.5182-7_5182-5delinsGTGC (n.5182-7_5182-5delinsGTGC) c.4528-7_4528-5delinsGTGC (n.4528-7_4528-5delinsGTGC) c.5476-7_5476-5delinsGTGC (n.5476-7_5476-5delinsGTGC) c.5224-7_5224-5delinsGTGC (n.5224-7_5224-5delinsGTGC) c.3970-7_3970-5delinsGTGC (n.3970-7_3970-5delinsGTGC) | ClinVar dbSNP |
16 | g.2088440C>G | CA2631119362 | TSC2 | c.*3609-6C>G (n.*3609-6C>G) c.5107-6C>G (n.5107-6C>G) c.5257-6C>G (n.5257-6C>G) c.*5773-6C>G (n.*5773-6C>G) c.*8009-6C>G (n.*8009-6C>G) c.5260-6C>G (n.5260-6C>G) c.5191-6C>G (n.5191-6C>G) c.5059-6C>G (n.5059-6C>G) c.5092-6C>G (n.5092-6C>G) c.1483-6C>G n.3142-6C>G c.3914-6C>G c.5119-6C>G (n.5119-6C>G) n.857-6C>G c.5062-6C>G (n.5062-6C>G) c.5128-6C>G (n.5128-6C>G) c.5053-6C>G (n.5053-6C>G) n.2908-6C>G c.5185-6C>G (n.5185-6C>G) c.5131-6C>G (n.5131-6C>G) c.5146-6C>G (n.5146-6C>G) c.5056-6C>G (n.5056-6C>G) c.5181-6C>G n.3344-6C>G c.5254-6C>G (n.5254-6C>G) n.4075-6C>G n.2512-6C>G n.2483-6C>G n.2373-6C>G c.4915-6C>G (n.4915-6C>G) c.*4427-6C>G (n.*4427-6C>G) c.4951-6C>G (n.4951-6C>G) n.2983-6C>G c.1442-6C>G n.2375-6C>G c.5314-6C>G (n.5314-6C>G) c.5311-6C>G (n.5311-6C>G) c.5203-6C>G (n.5203-6C>G) c.5182-6C>G (n.5182-6C>G) c.4528-6C>G (n.4528-6C>G) c.5476-6C>G (n.5476-6C>G) c.5224-6C>G (n.5224-6C>G) c.3970-6C>G (n.3970-6C>G) | gnomAD v4 |
16 | g.2088440C>T | CA2575877619 | TSC2 | c.*3609-6C>T (n.*3609-6C>T) c.5107-6C>T (n.5107-6C>T) c.5257-6C>T (n.5257-6C>T) c.*5773-6C>T (n.*5773-6C>T) c.*8009-6C>T (n.*8009-6C>T) c.5260-6C>T (n.5260-6C>T) c.5191-6C>T (n.5191-6C>T) c.5059-6C>T (n.5059-6C>T) c.5092-6C>T (n.5092-6C>T) c.1483-6C>T n.3142-6C>T c.3914-6C>T c.5119-6C>T (n.5119-6C>T) n.857-6C>T c.5062-6C>T (n.5062-6C>T) c.5128-6C>T (n.5128-6C>T) c.5053-6C>T (n.5053-6C>T) n.2908-6C>T c.5185-6C>T (n.5185-6C>T) c.5131-6C>T (n.5131-6C>T) c.5146-6C>T (n.5146-6C>T) c.5056-6C>T (n.5056-6C>T) c.5181-6C>T n.3344-6C>T c.5254-6C>T (n.5254-6C>T) n.4075-6C>T n.2512-6C>T n.2483-6C>T n.2373-6C>T c.4915-6C>T (n.4915-6C>T) c.*4427-6C>T (n.*4427-6C>T) c.4951-6C>T (n.4951-6C>T) n.2983-6C>T c.1442-6C>T n.2375-6C>T c.5314-6C>T (n.5314-6C>T) c.5311-6C>T (n.5311-6C>T) c.5203-6C>T (n.5203-6C>T) c.5182-6C>T (n.5182-6C>T) c.4528-6C>T (n.4528-6C>T) c.5476-6C>T (n.5476-6C>T) c.5224-6C>T (n.5224-6C>T) c.3970-6C>T (n.3970-6C>T) | ClinVar |
16 | g.2088440_2088441del | CA2631119360 | TSC2 | c.*3609-6_*3609-5del (n.*3609-6_*3609-5del) c.5107-6_5107-5del (n.5107-6_5107-5del) c.5257-6_5257-5del (n.5257-6_5257-5del) c.*5773-6_*5773-5del (n.*5773-6_*5773-5del) c.*8009-6_*8009-5del (n.*8009-6_*8009-5del) c.5260-6_5260-5del (n.5260-6_5260-5del) c.5191-6_5191-5del (n.5191-6_5191-5del) c.5059-6_5059-5del (n.5059-6_5059-5del) c.5092-6_5092-5del (n.5092-6_5092-5del) c.1483-6_1483-5del n.3142-6_3142-5del c.3914-6_3914-5del c.5119-6_5119-5del (n.5119-6_5119-5del) n.857-6_857-5del c.5062-6_5062-5del (n.5062-6_5062-5del) c.5128-6_5128-5del (n.5128-6_5128-5del) c.5053-6_5053-5del (n.5053-6_5053-5del) n.2908-6_2908-5del c.5185-6_5185-5del (n.5185-6_5185-5del) c.5131-6_5131-5del (n.5131-6_5131-5del) c.5146-6_5146-5del (n.5146-6_5146-5del) c.5056-6_5056-5del (n.5056-6_5056-5del) c.5181-6_5181-5del n.3344-6_3344-5del c.5254-6_5254-5del (n.5254-6_5254-5del) n.4075-6_4075-5del n.2512-6_2512-5del n.2483-6_2483-5del n.2373-6_2373-5del c.4915-6_4915-5del (n.4915-6_4915-5del) c.*4427-6_*4427-5del (n.*4427-6_*4427-5del) c.4951-6_4951-5del (n.4951-6_4951-5del) n.2983-6_2983-5del c.1442-6_1442-5del n.2375-6_2375-5del c.5314-6_5314-5del (n.5314-6_5314-5del) c.5311-6_5311-5del (n.5311-6_5311-5del) c.5203-6_5203-5del (n.5203-6_5203-5del) c.5182-6_5182-5del (n.5182-6_5182-5del) c.4528-6_4528-5del (n.4528-6_4528-5del) c.5476-6_5476-5del (n.5476-6_5476-5del) c.5224-6_5224-5del (n.5224-6_5224-5del) c.3970-6_3970-5del (n.3970-6_3970-5del) | gnomAD v4 |
16 | g.2088441T>C | CA2739269939 | TSC2 | c.*3609-5T>C (n.*3609-5T>C) c.5107-5T>C (n.5107-5T>C) c.5257-5T>C (n.5257-5T>C) c.*5773-5T>C (n.*5773-5T>C) c.*8009-5T>C (n.*8009-5T>C) c.5260-5T>C (n.5260-5T>C) c.5191-5T>C (n.5191-5T>C) c.5059-5T>C (n.5059-5T>C) c.5092-5T>C (n.5092-5T>C) c.1483-5T>C n.3142-5T>C c.3914-5T>C c.5119-5T>C (n.5119-5T>C) n.857-5T>C c.5062-5T>C (n.5062-5T>C) c.5128-5T>C (n.5128-5T>C) c.5053-5T>C (n.5053-5T>C) n.2908-5T>C c.5185-5T>C (n.5185-5T>C) c.5131-5T>C (n.5131-5T>C) c.5146-5T>C (n.5146-5T>C) c.5056-5T>C (n.5056-5T>C) c.5181-5T>C n.3344-5T>C c.5254-5T>C (n.5254-5T>C) n.4075-5T>C n.2512-5T>C n.2483-5T>C n.2373-5T>C c.4915-5T>C (n.4915-5T>C) c.*4427-5T>C (n.*4427-5T>C) c.4951-5T>C (n.4951-5T>C) n.2983-5T>C c.1442-5T>C n.2375-5T>C c.5314-5T>C (n.5314-5T>C) c.5311-5T>C (n.5311-5T>C) c.5203-5T>C (n.5203-5T>C) c.5182-5T>C (n.5182-5T>C) c.4528-5T>C (n.4528-5T>C) c.5476-5T>C (n.5476-5T>C) c.5224-5T>C (n.5224-5T>C) c.3970-5T>C (n.3970-5T>C) | ClinVar |
16 | g.2088441T>G | CA2805573948 | TSC2 | c.*3609-5T>G (n.*3609-5T>G) c.5107-5T>G (n.5107-5T>G) c.5257-5T>G (n.5257-5T>G) c.*5773-5T>G (n.*5773-5T>G) c.*8009-5T>G (n.*8009-5T>G) c.5260-5T>G (n.5260-5T>G) c.5191-5T>G (n.5191-5T>G) c.5059-5T>G (n.5059-5T>G) c.5092-5T>G (n.5092-5T>G) c.1483-5T>G n.3142-5T>G c.3914-5T>G c.5119-5T>G (n.5119-5T>G) n.857-5T>G c.5062-5T>G (n.5062-5T>G) c.5128-5T>G (n.5128-5T>G) c.5053-5T>G (n.5053-5T>G) n.2908-5T>G c.5185-5T>G (n.5185-5T>G) c.5131-5T>G (n.5131-5T>G) c.5146-5T>G (n.5146-5T>G) c.5056-5T>G (n.5056-5T>G) c.5181-5T>G n.3344-5T>G c.5254-5T>G (n.5254-5T>G) n.4075-5T>G n.2512-5T>G n.2483-5T>G n.2373-5T>G c.4915-5T>G (n.4915-5T>G) c.*4427-5T>G (n.*4427-5T>G) c.4951-5T>G (n.4951-5T>G) n.2983-5T>G c.1442-5T>G n.2375-5T>G c.5314-5T>G (n.5314-5T>G) c.5311-5T>G (n.5311-5T>G) c.5203-5T>G (n.5203-5T>G) c.5182-5T>G (n.5182-5T>G) c.4528-5T>G (n.4528-5T>G) c.5476-5T>G (n.5476-5T>G) c.5224-5T>G (n.5224-5T>G) c.3970-5T>G (n.3970-5T>G) | |
16 | g.2088442T>A | CA2731831859 | TSC2 | c.*3609-4T>A (n.*3609-4T>A) c.5107-4T>A (n.5107-4T>A) c.5257-4T>A (n.5257-4T>A) c.*5773-4T>A (n.*5773-4T>A) c.*8009-4T>A (n.*8009-4T>A) c.5260-4T>A (n.5260-4T>A) c.5191-4T>A (n.5191-4T>A) c.5059-4T>A (n.5059-4T>A) c.5092-4T>A (n.5092-4T>A) c.1483-4T>A n.3142-4T>A c.3914-4T>A c.5119-4T>A (n.5119-4T>A) n.857-4T>A c.5062-4T>A (n.5062-4T>A) c.5128-4T>A (n.5128-4T>A) c.5053-4T>A (n.5053-4T>A) n.2908-4T>A c.5185-4T>A (n.5185-4T>A) c.5131-4T>A (n.5131-4T>A) c.5146-4T>A (n.5146-4T>A) c.5056-4T>A (n.5056-4T>A) c.5181-4T>A n.3344-4T>A c.5254-4T>A (n.5254-4T>A) n.4075-4T>A n.2512-4T>A n.2483-4T>A n.2373-4T>A c.4915-4T>A (n.4915-4T>A) c.*4427-4T>A (n.*4427-4T>A) c.4951-4T>A (n.4951-4T>A) n.2983-4T>A c.1442-4T>A n.2375-4T>A c.5314-4T>A (n.5314-4T>A) c.5311-4T>A (n.5311-4T>A) c.5203-4T>A (n.5203-4T>A) c.5182-4T>A (n.5182-4T>A) c.4528-4T>A (n.4528-4T>A) c.5476-4T>A (n.5476-4T>A) c.5224-4T>A (n.5224-4T>A) c.3970-4T>A (n.3970-4T>A) | dbSNP |
16 | g.2088443C>T | CA2575877622 | TSC2 | c.*3609-3C>T (n.*3609-3C>T) c.5107-3C>T (n.5107-3C>T) c.5257-3C>T (n.5257-3C>T) c.*5773-3C>T (n.*5773-3C>T) c.*8009-3C>T (n.*8009-3C>T) c.5260-3C>T (n.5260-3C>T) c.5191-3C>T (n.5191-3C>T) c.5059-3C>T (n.5059-3C>T) c.5092-3C>T (n.5092-3C>T) c.1483-3C>T n.3142-3C>T c.3914-3C>T c.5119-3C>T (n.5119-3C>T) n.857-3C>T c.5062-3C>T (n.5062-3C>T) c.5128-3C>T (n.5128-3C>T) c.5053-3C>T (n.5053-3C>T) n.2908-3C>T c.5185-3C>T (n.5185-3C>T) c.5131-3C>T (n.5131-3C>T) c.5146-3C>T (n.5146-3C>T) c.5056-3C>T (n.5056-3C>T) c.5181-3C>T n.3344-3C>T c.5254-3C>T (n.5254-3C>T) n.4075-3C>T n.2512-3C>T n.2483-3C>T n.2373-3C>T c.4915-3C>T (n.4915-3C>T) c.*4427-3C>T (n.*4427-3C>T) c.4951-3C>T (n.4951-3C>T) n.2983-3C>T c.1442-3C>T n.2375-3C>T c.5314-3C>T (n.5314-3C>T) c.5311-3C>T (n.5311-3C>T) c.5203-3C>T (n.5203-3C>T) c.5182-3C>T (n.5182-3C>T) c.4528-3C>T (n.4528-3C>T) c.5476-3C>T (n.5476-3C>T) c.5224-3C>T (n.5224-3C>T) c.3970-3C>T (n.3970-3C>T) | ClinVar dbSNP gnomAD v4 |
16 | g.2088443_2088444del | CA2838629635 | TSC2 | c.*3609-3_*3609-2del (n.*3609-3_*3609-2del) c.5107-3_5107-2del (n.5107-3_5107-2del) c.5257-3_5257-2del (n.5257-3_5257-2del) c.*5773-3_*5773-2del (n.*5773-3_*5773-2del) c.*8009-3_*8009-2del (n.*8009-3_*8009-2del) c.5260-3_5260-2del (n.5260-3_5260-2del) c.5191-3_5191-2del (n.5191-3_5191-2del) c.5059-3_5059-2del (n.5059-3_5059-2del) c.5092-3_5092-2del (n.5092-3_5092-2del) c.1483-3_1483-2del n.3142-3_3142-2del c.3914-3_3914-2del c.5119-3_5119-2del (n.5119-3_5119-2del) n.857-3_857-2del c.5062-3_5062-2del (n.5062-3_5062-2del) c.5128-3_5128-2del (n.5128-3_5128-2del) c.5053-3_5053-2del (n.5053-3_5053-2del) n.2908-3_2908-2del c.5185-3_5185-2del (n.5185-3_5185-2del) c.5131-3_5131-2del (n.5131-3_5131-2del) c.5146-3_5146-2del (n.5146-3_5146-2del) c.5056-3_5056-2del (n.5056-3_5056-2del) c.5181-3_5181-2del n.3344-3_3344-2del c.5254-3_5254-2del (n.5254-3_5254-2del) n.4075-3_4075-2del n.2512-3_2512-2del n.2483-3_2483-2del n.2373-3_2373-2del c.4915-3_4915-2del (n.4915-3_4915-2del) c.*4427-3_*4427-2del (n.*4427-3_*4427-2del) c.4951-3_4951-2del (n.4951-3_4951-2del) n.2983-3_2983-2del c.1442-3_1442-2del n.2375-3_2375-2del c.5314-3_5314-2del (n.5314-3_5314-2del) c.5311-3_5311-2del (n.5311-3_5311-2del) c.5203-3_5203-2del (n.5203-3_5203-2del) c.5182-3_5182-2del (n.5182-3_5182-2del) c.4528-3_4528-2del (n.4528-3_4528-2del) c.5476-3_5476-2del (n.5476-3_5476-2del) c.5224-3_5224-2del (n.5224-3_5224-2del) c.3970-3_3970-2del (n.3970-3_3970-2del) | |
16 | g.2088444A= | CA2202033212 | TSC2 | c.*3609-2A= (n.*3609-2A=) c.5107-2A= (n.5107-2A=) c.5257-2A= (n.5257-2A=) c.*5773-2A= (n.*5773-2A=) c.*8009-2A= (n.*8009-2A=) c.5260-2A= (n.5260-2A=) c.5191-2A= (n.5191-2A=) c.5059-2A= (n.5059-2A=) c.5092-2A= (n.5092-2A=) c.1483-2A= n.3142-2A= c.3914-2A= c.5119-2A= (n.5119-2A=) n.857-2A= c.5062-2A= (n.5062-2A=) c.5128-2A= (n.5128-2A=) c.5053-2A= (n.5053-2A=) n.2908-2A= c.5185-2A= (n.5185-2A=) c.5131-2A= (n.5131-2A=) c.5146-2A= (n.5146-2A=) c.5056-2A= (n.5056-2A=) c.5181-2A= n.3344-2A= c.5254-2A= (n.5254-2A=) n.4075-2A= n.2512-2A= n.2483-2A= n.2373-2A= c.4915-2A= (n.4915-2A=) c.*4427-2A= (n.*4427-2A=) c.4951-2A= (n.4951-2A=) n.2983-2A= c.1442-2A= n.2375-2A= c.5314-2A= (n.5314-2A=) c.5311-2A= (n.5311-2A=) c.5203-2A= (n.5203-2A=) c.5182-2A= (n.5182-2A=) c.4528-2A= (n.4528-2A=) c.5476-2A= (n.5476-2A=) c.5224-2A= (n.5224-2A=) c.3970-2A= (n.3970-2A=) | |
16 | g.2088444A>C | CA394314985 | TSC2 | c.*3609-2A>C (n.*3609-2A>C) c.5107-2A>C (n.5107-2A>C) c.5257-2A>C (n.5257-2A>C) c.*5773-2A>C (n.*5773-2A>C) c.*8009-2A>C (n.*8009-2A>C) c.5260-2A>C (n.5260-2A>C) c.5191-2A>C (n.5191-2A>C) c.5059-2A>C (n.5059-2A>C) c.5092-2A>C (n.5092-2A>C) c.1483-2A>C n.3142-2A>C c.3914-2A>C c.5119-2A>C (n.5119-2A>C) n.857-2A>C c.5062-2A>C (n.5062-2A>C) c.5128-2A>C (n.5128-2A>C) c.5053-2A>C (n.5053-2A>C) n.2908-2A>C c.5185-2A>C (n.5185-2A>C) c.5131-2A>C (n.5131-2A>C) c.5146-2A>C (n.5146-2A>C) c.5056-2A>C (n.5056-2A>C) c.5181-2A>C n.3344-2A>C c.5254-2A>C (n.5254-2A>C) n.4075-2A>C n.2512-2A>C n.2483-2A>C n.2373-2A>C c.4915-2A>C (n.4915-2A>C) c.*4427-2A>C (n.*4427-2A>C) c.4951-2A>C (n.4951-2A>C) n.2983-2A>C c.1442-2A>C n.2375-2A>C c.5314-2A>C (n.5314-2A>C) c.5311-2A>C (n.5311-2A>C) c.5203-2A>C (n.5203-2A>C) c.5182-2A>C (n.5182-2A>C) c.4528-2A>C (n.4528-2A>C) c.5476-2A>C (n.5476-2A>C) c.5224-2A>C (n.5224-2A>C) c.3970-2A>C (n.3970-2A>C) | ClinVar dbSNP |
16 | g.2088444A>G | CA394314992 | TSC2 | c.*3609-2A>G (n.*3609-2A>G) c.5107-2A>G (n.5107-2A>G) c.5257-2A>G (n.5257-2A>G) c.*5773-2A>G (n.*5773-2A>G) c.*8009-2A>G (n.*8009-2A>G) c.5260-2A>G (n.5260-2A>G) c.5191-2A>G (n.5191-2A>G) c.5059-2A>G (n.5059-2A>G) c.5092-2A>G (n.5092-2A>G) c.1483-2A>G n.3142-2A>G c.3914-2A>G c.5119-2A>G (n.5119-2A>G) n.857-2A>G c.5062-2A>G (n.5062-2A>G) c.5128-2A>G (n.5128-2A>G) c.5053-2A>G (n.5053-2A>G) n.2908-2A>G c.5185-2A>G (n.5185-2A>G) c.5131-2A>G (n.5131-2A>G) c.5146-2A>G (n.5146-2A>G) c.5056-2A>G (n.5056-2A>G) c.5181-2A>G n.3344-2A>G c.5254-2A>G (n.5254-2A>G) n.4075-2A>G n.2512-2A>G n.2483-2A>G n.2373-2A>G c.4915-2A>G (n.4915-2A>G) c.*4427-2A>G (n.*4427-2A>G) c.4951-2A>G (n.4951-2A>G) n.2983-2A>G c.1442-2A>G n.2375-2A>G c.5314-2A>G (n.5314-2A>G) c.5311-2A>G (n.5311-2A>G) c.5203-2A>G (n.5203-2A>G) c.5182-2A>G (n.5182-2A>G) c.4528-2A>G (n.4528-2A>G) c.5476-2A>G (n.5476-2A>G) c.5224-2A>G (n.5224-2A>G) c.3970-2A>G (n.3970-2A>G) | gnomAD v4 |
16 | g.2088444A>T | CA394314997 | TSC2 | c.*3609-2A>T (n.*3609-2A>T) c.5107-2A>T (n.5107-2A>T) c.5257-2A>T (n.5257-2A>T) c.*5773-2A>T (n.*5773-2A>T) c.*8009-2A>T (n.*8009-2A>T) c.5260-2A>T (n.5260-2A>T) c.5191-2A>T (n.5191-2A>T) c.5059-2A>T (n.5059-2A>T) c.5092-2A>T (n.5092-2A>T) c.1483-2A>T n.3142-2A>T c.3914-2A>T c.5119-2A>T (n.5119-2A>T) n.857-2A>T c.5062-2A>T (n.5062-2A>T) c.5128-2A>T (n.5128-2A>T) c.5053-2A>T (n.5053-2A>T) n.2908-2A>T c.5185-2A>T (n.5185-2A>T) c.5131-2A>T (n.5131-2A>T) c.5146-2A>T (n.5146-2A>T) c.5056-2A>T (n.5056-2A>T) c.5181-2A>T n.3344-2A>T c.5254-2A>T (n.5254-2A>T) n.4075-2A>T n.2512-2A>T n.2483-2A>T n.2373-2A>T c.4915-2A>T (n.4915-2A>T) c.*4427-2A>T (n.*4427-2A>T) c.4951-2A>T (n.4951-2A>T) n.2983-2A>T c.1442-2A>T n.2375-2A>T c.5314-2A>T (n.5314-2A>T) c.5311-2A>T (n.5311-2A>T) c.5203-2A>T (n.5203-2A>T) c.5182-2A>T (n.5182-2A>T) c.4528-2A>T (n.4528-2A>T) c.5476-2A>T (n.5476-2A>T) c.5224-2A>T (n.5224-2A>T) c.3970-2A>T (n.3970-2A>T) | |
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) | ClinVar 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=) | |
16 | g.2088454G>T | CA394315083 | TSC2 | c.*3617G>T (n.*3617G>T) c.5115G>T (p.Glu1705Asp) c.5265G>T (p.Glu1755Asp) c.*5781G>T (n.*5781G>T) c.*8017G>T (n.*8017G>T) c.5268G>T (p.Glu1756Asp) c.5199G>T (p.Glu1733Asp) c.5067G>T (p.Glu1689Asp) c.5100G>T (p.Glu1700Asp) c.1491G>T n.3150G>T c.3922G>T c.5127G>T (p.Glu1709Asp) n.865G>T c.5070G>T (p.Glu1690Asp) c.5136G>T (p.Glu1712Asp) c.5061G>T (p.Glu1687Asp) n.2916G>T c.5193G>T (p.Glu1731Asp) c.5139G>T (p.Glu1713Asp) c.5154G>T (p.Glu1718Asp) c.5064G>T (p.Glu1688Asp) c.5189G>T n.3352G>T c.5262G>T (p.Glu1754Asp) n.4083G>T n.2520G>T n.2491G>T n.2381G>T c.4923G>T (p.Glu1641Asp) c.*4435G>T (n.*4435G>T) c.4959G>T (p.Glu1653Asp) n.2991G>T c.1450G>T n.2383G>T c.5322G>T (p.Glu1774Asp) c.5319G>T (p.Glu1773Asp) c.5211G>T (p.Glu1737Asp) c.5190G>T (p.Glu1730Asp) c.4536G>T (p.Glu1512Asp) c.5484G>T (p.Glu1828Asp) c.5232G>T (p.Glu1744Asp) c.3978G>T (p.Glu1326Asp) | |
16 | g.2088455G>A | CA16615048 | TSC2 | c.*3618G>A (n.*3618G>A) c.5116G>A (p.Glu1706Lys) c.5266G>A (p.Glu1756Lys) c.*5782G>A (n.*5782G>A) c.*8018G>A (n.*8018G>A) c.5269G>A (p.Glu1757Lys) c.5200G>A (p.Glu1734Lys) c.5068G>A (p.Glu1690Lys) c.5101G>A (p.Glu1701Lys) c.1492G>A n.3151G>A c.3923G>A c.5128G>A (p.Glu1710Lys) n.866G>A c.5071G>A (p.Glu1691Lys) c.5137G>A (p.Glu1713Lys) c.5062G>A (p.Glu1688Lys) n.2917G>A c.5194G>A (p.Glu1732Lys) c.5140G>A (p.Glu1714Lys) c.5155G>A (p.Glu1719Lys) c.5065G>A (p.Glu1689Lys) c.5190G>A n.3353G>A c.5263G>A (p.Glu1755Lys) n.4084G>A n.2521G>A n.2492G>A n.2382G>A c.4924G>A (p.Glu1642Lys) c.*4436G>A (n.*4436G>A) c.4960G>A (p.Glu1654Lys) n.2992G>A c.1451G>A n.2384G>A c.5323G>A (p.Glu1775Lys) c.5320G>A (p.Glu1774Lys) c.5212G>A (p.Glu1738Lys) c.5191G>A (p.Glu1731Lys) c.4537G>A (p.Glu1513Lys) c.5485G>A (p.Glu1829Lys) c.5233G>A (p.Glu1745Lys) c.3979G>A (p.Glu1327Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
16 | g.2088455G>C | CA394315101 | TSC2 | c.*3618G>C (n.*3618G>C) c.5116G>C (p.Glu1706Gln) c.5266G>C (p.Glu1756Gln) c.*5782G>C (n.*5782G>C) c.*8018G>C (n.*8018G>C) c.5269G>C (p.Glu1757Gln) c.5200G>C (p.Glu1734Gln) c.5068G>C (p.Glu1690Gln) c.5101G>C (p.Glu1701Gln) c.1492G>C n.3151G>C c.3923G>C c.5128G>C (p.Glu1710Gln) n.866G>C c.5071G>C (p.Glu1691Gln) c.5137G>C (p.Glu1713Gln) c.5062G>C (p.Glu1688Gln) n.2917G>C c.5194G>C (p.Glu1732Gln) c.5140G>C (p.Glu1714Gln) c.5155G>C (p.Glu1719Gln) c.5065G>C (p.Glu1689Gln) c.5190G>C n.3353G>C c.5263G>C (p.Glu1755Gln) n.4084G>C n.2521G>C n.2492G>C n.2382G>C c.4924G>C (p.Glu1642Gln) c.*4436G>C (n.*4436G>C) c.4960G>C (p.Glu1654Gln) n.2992G>C c.1451G>C n.2384G>C c.5323G>C (p.Glu1775Gln) c.5320G>C (p.Glu1774Gln) c.5212G>C (p.Glu1738Gln) c.5191G>C (p.Glu1731Gln) c.4537G>C (p.Glu1513Gln) c.5485G>C (p.Glu1829Gln) c.5233G>C (p.Glu1745Gln) c.3979G>C (p.Glu1327Gln) | |
16 | g.2088455G= | CA2202033335 | TSC2 | c.*3618G= (n.*3618G=) c.5116G= (p.Glu1706=) c.5266G= (p.Glu1756=) c.*5782G= (n.*5782G=) c.*8018G= (n.*8018G=) c.5269G= (p.Glu1757=) c.5200G= (p.Glu1734=) c.5068G= (p.Glu1690=) c.5101G= (p.Glu1701=) c.1492G= n.3151G= c.3923G= c.5128G= (p.Glu1710=) n.866G= c.5071G= (p.Glu1691=) c.5137G= (p.Glu1713=) c.5062G= (p.Glu1688=) n.2917G= c.5194G= (p.Glu1732=) c.5140G= (p.Glu1714=) c.5155G= (p.Glu1719=) c.5065G= (p.Glu1689=) c.5190G= n.3353G= c.5263G= (p.Glu1755=) n.4084G= n.2521G= n.2492G= n.2382G= c.4924G= (p.Glu1642=) c.*4436G= (n.*4436G=) c.4960G= (p.Glu1654=) n.2992G= c.1451G= n.2384G= c.5323G= (p.Glu1775=) c.5320G= (p.Glu1774=) c.5212G= (p.Glu1738=) c.5191G= (p.Glu1731=) c.4537G= (p.Glu1513=) c.5485G= (p.Glu1829=) c.5233G= (p.Glu1745=) c.3979G= (p.Glu1327=) | |
16 | g.2088455G>T | CA394315104 | TSC2 | c.*3618G>T (n.*3618G>T) c.5116G>T (p.Glu1706Ter) c.5266G>T (p.Glu1756Ter) c.*5782G>T (n.*5782G>T) c.*8018G>T (n.*8018G>T) c.5269G>T (p.Glu1757Ter) c.5200G>T (p.Glu1734Ter) c.5068G>T (p.Glu1690Ter) c.5101G>T (p.Glu1701Ter) c.1492G>T n.3151G>T c.3923G>T c.5128G>T (p.Glu1710Ter) n.866G>T c.5071G>T (p.Glu1691Ter) c.5137G>T (p.Glu1713Ter) c.5062G>T (p.Glu1688Ter) n.2917G>T c.5194G>T (p.Glu1732Ter) c.5140G>T (p.Glu1714Ter) c.5155G>T (p.Glu1719Ter) c.5065G>T (p.Glu1689Ter) c.5190G>T n.3353G>T c.5263G>T (p.Glu1755Ter) n.4084G>T n.2521G>T n.2492G>T n.2382G>T c.4924G>T (p.Glu1642Ter) c.*4436G>T (n.*4436G>T) c.4960G>T (p.Glu1654Ter) n.2992G>T c.1451G>T n.2384G>T c.5323G>T (p.Glu1775Ter) c.5320G>T (p.Glu1774Ter) c.5212G>T (p.Glu1738Ter) c.5191G>T (p.Glu1731Ter) c.4537G>T (p.Glu1513Ter) c.5485G>T (p.Glu1829Ter) c.5233G>T (p.Glu1745Ter) c.3979G>T (p.Glu1327Ter) | |
16 | g.2088455_2088456dup | CA022353 | TSC2 | c.*3618_*3619dup (n.*3618_*3619dup) c.5116_5117dup (p.Ala1707LysfsTer?) c.5266_5267dup (p.Ala1757LysfsTer?) c.*5782_*5783dup (n.*5782_*5783dup) c.*8018_*8019dup (n.*8018_*8019dup) c.5269_5270dup (p.Ala1758LysfsTer?) c.5200_5201dup (p.Ala1735LysfsTer?) c.5068_5069dup (p.Ala1691LysfsTer?) c.5101_5102dup (p.Ala1702LysfsTer?) c.1492_1493dup n.3151_3152dup c.3923_3924dup c.5128_5129dup (p.Ala1711LysfsTer?) n.866_867dup c.5071_5072dup (p.Ala1692LysfsTer?) c.5137_5138dup (p.Ala1714LysfsTer?) c.5062_5063dup (p.Ala1689LysfsTer?) n.2917_2918dup c.5194_5195dup (p.Ala1733LysfsTer?) c.5140_5141dup (p.Ala1715LysfsTer?) c.5155_5156dup (p.Ala1720LysfsTer?) c.5065_5066dup (p.Ala1690LysfsTer?) c.5190_5191dup n.3353_3354dup c.5263_5264dup (p.Ala1756LysfsTer?) n.4084_4085dup n.2521_2522dup n.2492_2493dup n.2382_2383dup c.4924_4925dup (p.Ala1643LysfsTer?) c.*4436_*4437dup (n.*4436_*4437dup) c.4960_4961dup (p.Ala1655LysfsTer?) n.2992_2993dup c.1451_1452dup n.2384_2385dup c.5323_5324dup (p.Ala1776LysfsTer?) c.5320_5321dup (p.Ala1775LysfsTer?) c.5212_5213dup (p.Ala1739LysfsTer?) c.5191_5192dup (p.Ala1732LysfsTer?) c.4537_4538dup (p.Ala1514LysfsTer?) c.5485_5486dup (p.Ala1830LysfsTer?) c.5233_5234dup (p.Ala1746LysfsTer?) c.3979_3980dup (p.Ala1328LysfsTer?) | ClinVar dbSNP |
16 | g.2088456A>C | CA394315110 | TSC2 | c.*3619A>C (n.*3619A>C) c.5117A>C (p.Glu1706Ala) c.5267A>C (p.Glu1756Ala) c.*5783A>C (n.*5783A>C) c.*8019A>C (n.*8019A>C) c.5270A>C (p.Glu1757Ala) c.5201A>C (p.Glu1734Ala) c.5069A>C (p.Glu1690Ala) c.5102A>C (p.Glu1701Ala) c.1493A>C n.3152A>C c.3924A>C c.5129A>C (p.Glu1710Ala) n.867A>C c.5072A>C (p.Glu1691Ala) c.5138A>C (p.Glu1713Ala) c.5063A>C (p.Glu1688Ala) n.2918A>C c.5195A>C (p.Glu1732Ala) c.5141A>C (p.Glu1714Ala) c.5156A>C (p.Glu1719Ala) c.5066A>C (p.Glu1689Ala) c.5191A>C n.3354A>C c.5264A>C (p.Glu1755Ala) n.4085A>C n.2522A>C n.2493A>C n.2383A>C c.4925A>C (p.Glu1642Ala) c.*4437A>C (n.*4437A>C) c.4961A>C (p.Glu1654Ala) n.2993A>C c.1452A>C n.2385A>C c.5324A>C (p.Glu1775Ala) c.5321A>C (p.Glu1774Ala) c.5213A>C (p.Glu1738Ala) c.5192A>C (p.Glu1731Ala) c.4538A>C (p.Glu1513Ala) c.5486A>C (p.Glu1829Ala) c.5234A>C (p.Glu1745Ala) c.3980A>C (p.Glu1327Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.2088456A>G | CA394315114 | TSC2 | c.*3619A>G (n.*3619A>G) c.5117A>G (p.Glu1706Gly) c.5267A>G (p.Glu1756Gly) c.*5783A>G (n.*5783A>G) c.*8019A>G (n.*8019A>G) c.5270A>G (p.Glu1757Gly) c.5201A>G (p.Glu1734Gly) c.5069A>G (p.Glu1690Gly) c.5102A>G (p.Glu1701Gly) c.1493A>G n.3152A>G c.3924A>G c.5129A>G (p.Glu1710Gly) n.867A>G c.5072A>G (p.Glu1691Gly) c.5138A>G (p.Glu1713Gly) c.5063A>G (p.Glu1688Gly) n.2918A>G c.5195A>G (p.Glu1732Gly) c.5141A>G (p.Glu1714Gly) c.5156A>G (p.Glu1719Gly) c.5066A>G (p.Glu1689Gly) c.5191A>G n.3354A>G c.5264A>G (p.Glu1755Gly) n.4085A>G n.2522A>G n.2493A>G n.2383A>G c.4925A>G (p.Glu1642Gly) c.*4437A>G (n.*4437A>G) c.4961A>G (p.Glu1654Gly) n.2993A>G c.1452A>G n.2385A>G c.5324A>G (p.Glu1775Gly) c.5321A>G (p.Glu1774Gly) c.5213A>G (p.Glu1738Gly) c.5192A>G (p.Glu1731Gly) c.4538A>G (p.Glu1513Gly) c.5486A>G (p.Glu1829Gly) c.5234A>G (p.Glu1745Gly) c.3980A>G (p.Glu1327Gly) | gnomAD v4 |
16 | g.2088456A>T | CA394315116 | TSC2 | c.*3619A>T (n.*3619A>T) c.5117A>T (p.Glu1706Val) c.5267A>T (p.Glu1756Val) c.*5783A>T (n.*5783A>T) c.*8019A>T (n.*8019A>T) c.5270A>T (p.Glu1757Val) c.5201A>T (p.Glu1734Val) c.5069A>T (p.Glu1690Val) c.5102A>T (p.Glu1701Val) c.1493A>T n.3152A>T c.3924A>T c.5129A>T (p.Glu1710Val) n.867A>T c.5072A>T (p.Glu1691Val) c.5138A>T (p.Glu1713Val) c.5063A>T (p.Glu1688Val) n.2918A>T c.5195A>T (p.Glu1732Val) c.5141A>T (p.Glu1714Val) c.5156A>T (p.Glu1719Val) c.5066A>T (p.Glu1689Val) c.5191A>T n.3354A>T c.5264A>T (p.Glu1755Val) n.4085A>T n.2522A>T n.2493A>T n.2383A>T c.4925A>T (p.Glu1642Val) c.*4437A>T (n.*4437A>T) c.4961A>T (p.Glu1654Val) n.2993A>T c.1452A>T n.2385A>T c.5324A>T (p.Glu1775Val) c.5321A>T (p.Glu1774Val) c.5213A>T (p.Glu1738Val) c.5192A>T (p.Glu1731Val) c.4538A>T (p.Glu1513Val) c.5486A>T (p.Glu1829Val) c.5234A>T (p.Glu1745Val) c.3980A>T (p.Glu1327Val) | |
16 | g.2088457A= | CA2202033344 | TSC2 | c.*3620A= (n.*3620A=) c.5118A= (p.Glu1706=) c.5268A= (p.Glu1756=) c.*5784A= (n.*5784A=) c.*8020A= (n.*8020A=) c.5271A= (p.Glu1757=) c.5202A= (p.Glu1734=) c.5070A= (p.Glu1690=) c.5103A= (p.Glu1701=) c.1494A= n.3153A= c.3925A= c.5130A= (p.Glu1710=) n.868A= c.5073A= (p.Glu1691=) c.5139A= (p.Glu1713=) c.5064A= (p.Glu1688=) n.2919A= c.5196A= (p.Glu1732=) c.5142A= (p.Glu1714=) c.5157A= (p.Glu1719=) c.5067A= (p.Glu1689=) c.5192A= n.3355A= c.5265A= (p.Glu1755=) n.4086A= n.2523A= n.2494A= n.2384A= c.4926A= (p.Glu1642=) c.*4438A= (n.*4438A=) c.4962A= (p.Glu1654=) n.2994A= c.1453A= n.2386A= c.5325A= (p.Glu1775=) c.5322A= (p.Glu1774=) c.5214A= (p.Glu1738=) c.5193A= (p.Glu1731=) c.4539A= (p.Glu1513=) c.5487A= (p.Glu1829=) c.5235A= (p.Glu1745=) c.3981A= (p.Glu1327=) | |
16 | g.2088457A>C | CA16614803 | TSC2 | c.*3620A>C (n.*3620A>C) c.5118A>C (p.Glu1706Asp) c.5268A>C (p.Glu1756Asp) c.*5784A>C (n.*5784A>C) c.*8020A>C (n.*8020A>C) c.5271A>C (p.Glu1757Asp) c.5202A>C (p.Glu1734Asp) c.5070A>C (p.Glu1690Asp) c.5103A>C (p.Glu1701Asp) c.1494A>C n.3153A>C c.3925A>C c.5130A>C (p.Glu1710Asp) n.868A>C c.5073A>C (p.Glu1691Asp) c.5139A>C (p.Glu1713Asp) c.5064A>C (p.Glu1688Asp) n.2919A>C c.5196A>C (p.Glu1732Asp) c.5142A>C (p.Glu1714Asp) c.5157A>C (p.Glu1719Asp) c.5067A>C (p.Glu1689Asp) c.5192A>C n.3355A>C c.5265A>C (p.Glu1755Asp) n.4086A>C n.2523A>C n.2494A>C n.2384A>C c.4926A>C (p.Glu1642Asp) c.*4438A>C (n.*4438A>C) c.4962A>C (p.Glu1654Asp) n.2994A>C c.1453A>C n.2386A>C c.5325A>C (p.Glu1775Asp) c.5322A>C (p.Glu1774Asp) c.5214A>C (p.Glu1738Asp) c.5193A>C (p.Glu1731Asp) c.4539A>C (p.Glu1513Asp) c.5487A>C (p.Glu1829Asp) c.5235A>C (p.Glu1745Asp) c.3981A>C (p.Glu1327Asp) | ClinVar dbSNP gnomAD v4 |
16 | g.2088457A>G | CA493043651 | TSC2 | c.*3620A>G (n.*3620A>G) c.5118A>G (p.Glu1706=) c.5268A>G (p.Glu1756=) c.*5784A>G (n.*5784A>G) c.*8020A>G (n.*8020A>G) c.5271A>G (p.Glu1757=) c.5202A>G (p.Glu1734=) c.5070A>G (p.Glu1690=) c.5103A>G (p.Glu1701=) c.1494A>G n.3153A>G c.3925A>G c.5130A>G (p.Glu1710=) n.868A>G c.5073A>G (p.Glu1691=) c.5139A>G (p.Glu1713=) c.5064A>G (p.Glu1688=) n.2919A>G c.5196A>G (p.Glu1732=) c.5142A>G (p.Glu1714=) c.5157A>G (p.Glu1719=) c.5067A>G (p.Glu1689=) c.5192A>G n.3355A>G c.5265A>G (p.Glu1755=) n.4086A>G n.2523A>G n.2494A>G n.2384A>G c.4926A>G (p.Glu1642=) c.*4438A>G (n.*4438A>G) c.4962A>G (p.Glu1654=) n.2994A>G c.1453A>G n.2386A>G c.5325A>G (p.Glu1775=) c.5322A>G (p.Glu1774=) c.5214A>G (p.Glu1738=) c.5193A>G (p.Glu1731=) c.4539A>G (p.Glu1513=) c.5487A>G (p.Glu1829=) c.5235A>G (p.Glu1745=) c.3981A>G (p.Glu1327=) | gnomAD v4 |
16 | g.2088457A>T | CA394315121 | TSC2 | c.*3620A>T (n.*3620A>T) c.5118A>T (p.Glu1706Asp) c.5268A>T (p.Glu1756Asp) c.*5784A>T (n.*5784A>T) c.*8020A>T (n.*8020A>T) c.5271A>T (p.Glu1757Asp) c.5202A>T (p.Glu1734Asp) c.5070A>T (p.Glu1690Asp) c.5103A>T (p.Glu1701Asp) c.1494A>T n.3153A>T c.3925A>T c.5130A>T (p.Glu1710Asp) n.868A>T c.5073A>T (p.Glu1691Asp) c.5139A>T (p.Glu1713Asp) c.5064A>T (p.Glu1688Asp) n.2919A>T c.5196A>T (p.Glu1732Asp) c.5142A>T (p.Glu1714Asp) c.5157A>T (p.Glu1719Asp) c.5067A>T (p.Glu1689Asp) c.5192A>T n.3355A>T c.5265A>T (p.Glu1755Asp) n.4086A>T n.2523A>T n.2494A>T n.2384A>T c.4926A>T (p.Glu1642Asp) c.*4438A>T (n.*4438A>T) c.4962A>T (p.Glu1654Asp) n.2994A>T c.1453A>T n.2386A>T c.5325A>T (p.Glu1775Asp) c.5322A>T (p.Glu1774Asp) c.5214A>T (p.Glu1738Asp) c.5193A>T (p.Glu1731Asp) c.4539A>T (p.Glu1513Asp) c.5487A>T (p.Glu1829Asp) c.5235A>T (p.Glu1745Asp) c.3981A>T (p.Glu1327Asp) | |
16 | g.2088458G>A | CA394315127 | TSC2 | c.*3621G>A (n.*3621G>A) c.5119G>A (p.Ala1707Thr) c.5269G>A (p.Ala1757Thr) c.*5785G>A (n.*5785G>A) c.*8021G>A (n.*8021G>A) c.5272G>A (p.Ala1758Thr) c.5203G>A (p.Ala1735Thr) c.5071G>A (p.Ala1691Thr) c.5104G>A (p.Ala1702Thr) c.1495G>A n.3154G>A c.3926G>A c.5131G>A (p.Ala1711Thr) n.869G>A c.5074G>A (p.Ala1692Thr) c.5140G>A (p.Ala1714Thr) c.5065G>A (p.Ala1689Thr) n.2920G>A c.5197G>A (p.Ala1733Thr) c.5143G>A (p.Ala1715Thr) c.5158G>A (p.Ala1720Thr) c.5068G>A (p.Ala1690Thr) c.5193G>A n.3356G>A c.5266G>A (p.Ala1756Thr) n.4087G>A n.2524G>A n.2495G>A n.2385G>A c.4927G>A (p.Ala1643Thr) c.*4439G>A (n.*4439G>A) c.4963G>A (p.Ala1655Thr) n.2995G>A c.1454G>A n.2387G>A c.5326G>A (p.Ala1776Thr) c.5323G>A (p.Ala1775Thr) c.5215G>A (p.Ala1739Thr) c.5194G>A (p.Ala1732Thr) c.4540G>A (p.Ala1514Thr) c.5488G>A (p.Ala1830Thr) c.5236G>A (p.Ala1746Thr) c.3982G>A (p.Ala1328Thr) | ClinVar dbSNP gnomAD v4 |
16 | g.2088458G>C | CA394315130 | TSC2 | c.*3621G>C (n.*3621G>C) c.5119G>C (p.Ala1707Pro) c.5269G>C (p.Ala1757Pro) c.*5785G>C (n.*5785G>C) c.*8021G>C (n.*8021G>C) c.5272G>C (p.Ala1758Pro) c.5203G>C (p.Ala1735Pro) c.5071G>C (p.Ala1691Pro) c.5104G>C (p.Ala1702Pro) c.1495G>C n.3154G>C c.3926G>C c.5131G>C (p.Ala1711Pro) n.869G>C c.5074G>C (p.Ala1692Pro) c.5140G>C (p.Ala1714Pro) c.5065G>C (p.Ala1689Pro) n.2920G>C c.5197G>C (p.Ala1733Pro) c.5143G>C (p.Ala1715Pro) c.5158G>C (p.Ala1720Pro) c.5068G>C (p.Ala1690Pro) c.5193G>C n.3356G>C c.5266G>C (p.Ala1756Pro) n.4087G>C n.2524G>C n.2495G>C n.2385G>C c.4927G>C (p.Ala1643Pro) c.*4439G>C (n.*4439G>C) c.4963G>C (p.Ala1655Pro) n.2995G>C c.1454G>C n.2387G>C c.5326G>C (p.Ala1776Pro) c.5323G>C (p.Ala1775Pro) c.5215G>C (p.Ala1739Pro) c.5194G>C (p.Ala1732Pro) c.4540G>C (p.Ala1514Pro) c.5488G>C (p.Ala1830Pro) c.5236G>C (p.Ala1746Pro) c.3982G>C (p.Ala1328Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.2088458G= | CA2202033367 | TSC2 | c.*3621G= (n.*3621G=) c.5119G= (p.Ala1707=) c.5269G= (p.Ala1757=) c.*5785G= (n.*5785G=) c.*8021G= (n.*8021G=) c.5272G= (p.Ala1758=) c.5203G= (p.Ala1735=) c.5071G= (p.Ala1691=) c.5104G= (p.Ala1702=) c.1495G= n.3154G= c.3926G= c.5131G= (p.Ala1711=) n.869G= c.5074G= (p.Ala1692=) c.5140G= (p.Ala1714=) c.5065G= (p.Ala1689=) n.2920G= c.5197G= (p.Ala1733=) c.5143G= (p.Ala1715=) c.5158G= (p.Ala1720=) c.5068G= (p.Ala1690=) c.5193G= n.3356G= c.5266G= (p.Ala1756=) n.4087G= n.2524G= n.2495G= n.2385G= c.4927G= (p.Ala1643=) c.*4439G= (n.*4439G=) c.4963G= (p.Ala1655=) n.2995G= c.1454G= n.2387G= c.5326G= (p.Ala1776=) c.5323G= (p.Ala1775=) c.5215G= (p.Ala1739=) c.5194G= (p.Ala1732=) c.4540G= (p.Ala1514=) c.5488G= (p.Ala1830=) c.5236G= (p.Ala1746=) c.3982G= (p.Ala1328=) | |
16 | g.2088458G>T | CA394315132 | TSC2 | c.*3621G>T (n.*3621G>T) c.5119G>T (p.Ala1707Ser) c.5269G>T (p.Ala1757Ser) c.*5785G>T (n.*5785G>T) c.*8021G>T (n.*8021G>T) c.5272G>T (p.Ala1758Ser) c.5203G>T (p.Ala1735Ser) c.5071G>T (p.Ala1691Ser) c.5104G>T (p.Ala1702Ser) c.1495G>T n.3154G>T c.3926G>T c.5131G>T (p.Ala1711Ser) n.869G>T c.5074G>T (p.Ala1692Ser) c.5140G>T (p.Ala1714Ser) c.5065G>T (p.Ala1689Ser) n.2920G>T c.5197G>T (p.Ala1733Ser) c.5143G>T (p.Ala1715Ser) c.5158G>T (p.Ala1720Ser) c.5068G>T (p.Ala1690Ser) c.5193G>T n.3356G>T c.5266G>T (p.Ala1756Ser) n.4087G>T n.2524G>T n.2495G>T n.2385G>T c.4927G>T (p.Ala1643Ser) c.*4439G>T (n.*4439G>T) c.4963G>T (p.Ala1655Ser) n.2995G>T c.1454G>T n.2387G>T c.5326G>T (p.Ala1776Ser) c.5323G>T (p.Ala1775Ser) c.5215G>T (p.Ala1739Ser) c.5194G>T (p.Ala1732Ser) c.4540G>T (p.Ala1514Ser) c.5488G>T (p.Ala1830Ser) c.5236G>T (p.Ala1746Ser) c.3982G>T (p.Ala1328Ser) | |
16 | g.2088459C>A | CA394315139 | TSC2 | c.*3622C>A (n.*3622C>A) c.5120C>A (p.Ala1707Asp) c.5270C>A (p.Ala1757Asp) c.*5786C>A (n.*5786C>A) c.*8022C>A (n.*8022C>A) c.5273C>A (p.Ala1758Asp) c.5204C>A (p.Ala1735Asp) c.5072C>A (p.Ala1691Asp) c.5105C>A (p.Ala1702Asp) c.1496C>A n.3155C>A c.3927C>A c.5132C>A (p.Ala1711Asp) n.870C>A c.5075C>A (p.Ala1692Asp) c.5141C>A (p.Ala1714Asp) c.5066C>A (p.Ala1689Asp) n.2921C>A c.5198C>A (p.Ala1733Asp) c.5144C>A (p.Ala1715Asp) c.5159C>A (p.Ala1720Asp) c.5069C>A (p.Ala1690Asp) c.5194C>A n.3357C>A c.5267C>A (p.Ala1756Asp) n.4088C>A n.2525C>A n.2496C>A n.2386C>A c.4928C>A (p.Ala1643Asp) c.*4440C>A (n.*4440C>A) c.4964C>A (p.Ala1655Asp) n.2996C>A c.1455C>A n.2388C>A c.5327C>A (p.Ala1776Asp) c.5324C>A (p.Ala1775Asp) c.5216C>A (p.Ala1739Asp) c.5195C>A (p.Ala1732Asp) c.4541C>A (p.Ala1514Asp) c.5489C>A (p.Ala1830Asp) c.5237C>A (p.Ala1746Asp) c.3983C>A (p.Ala1328Asp) | |
16 | g.2088459C= | CA2202033374 | TSC2 | c.*3622C= (n.*3622C=) c.5120C= (p.Ala1707=) c.5270C= (p.Ala1757=) c.*5786C= (n.*5786C=) c.*8022C= (n.*8022C=) c.5273C= (p.Ala1758=) c.5204C= (p.Ala1735=) c.5072C= (p.Ala1691=) c.5105C= (p.Ala1702=) c.1496C= n.3155C= c.3927C= c.5132C= (p.Ala1711=) n.870C= c.5075C= (p.Ala1692=) c.5141C= (p.Ala1714=) c.5066C= (p.Ala1689=) n.2921C= c.5198C= (p.Ala1733=) c.5144C= (p.Ala1715=) c.5159C= (p.Ala1720=) c.5069C= (p.Ala1690=) c.5194C= n.3357C= c.5267C= (p.Ala1756=) n.4088C= n.2525C= n.2496C= n.2386C= c.4928C= (p.Ala1643=) c.*4440C= (n.*4440C=) c.4964C= (p.Ala1655=) n.2996C= c.1455C= n.2388C= c.5327C= (p.Ala1776=) c.5324C= (p.Ala1775=) c.5216C= (p.Ala1739=) c.5195C= (p.Ala1732=) c.4541C= (p.Ala1514=) c.5489C= (p.Ala1830=) c.5237C= (p.Ala1746=) c.3983C= (p.Ala1328=) | |
16 | g.2088459C>G | CA054906 | TSC2 | c.*3622C>G (n.*3622C>G) c.5120C>G (p.Ala1707Gly) c.5270C>G (p.Ala1757Gly) c.*5786C>G (n.*5786C>G) c.*8022C>G (n.*8022C>G) c.5273C>G (p.Ala1758Gly) c.5204C>G (p.Ala1735Gly) c.5072C>G (p.Ala1691Gly) c.5105C>G (p.Ala1702Gly) c.1496C>G n.3155C>G c.3927C>G c.5132C>G (p.Ala1711Gly) n.870C>G c.5075C>G (p.Ala1692Gly) c.5141C>G (p.Ala1714Gly) c.5066C>G (p.Ala1689Gly) n.2921C>G c.5198C>G (p.Ala1733Gly) c.5144C>G (p.Ala1715Gly) c.5159C>G (p.Ala1720Gly) c.5069C>G (p.Ala1690Gly) c.5194C>G n.3357C>G c.5267C>G (p.Ala1756Gly) n.4088C>G n.2525C>G n.2496C>G n.2386C>G c.4928C>G (p.Ala1643Gly) c.*4440C>G (n.*4440C>G) c.4964C>G (p.Ala1655Gly) n.2996C>G c.1455C>G n.2388C>G c.5327C>G (p.Ala1776Gly) c.5324C>G (p.Ala1775Gly) c.5216C>G (p.Ala1739Gly) c.5195C>G (p.Ala1732Gly) c.4541C>G (p.Ala1514Gly) c.5489C>G (p.Ala1830Gly) c.5237C>G (p.Ala1746Gly) c.3983C>G (p.Ala1328Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088459C>T | CA394315135 | TSC2 | c.*3622C>T (n.*3622C>T) c.5120C>T (p.Ala1707Val) c.5270C>T (p.Ala1757Val) c.*5786C>T (n.*5786C>T) c.*8022C>T (n.*8022C>T) c.5273C>T (p.Ala1758Val) c.5204C>T (p.Ala1735Val) c.5072C>T (p.Ala1691Val) c.5105C>T (p.Ala1702Val) c.1496C>T n.3155C>T c.3927C>T c.5132C>T (p.Ala1711Val) n.870C>T c.5075C>T (p.Ala1692Val) c.5141C>T (p.Ala1714Val) c.5066C>T (p.Ala1689Val) n.2921C>T c.5198C>T (p.Ala1733Val) c.5144C>T (p.Ala1715Val) c.5159C>T (p.Ala1720Val) c.5069C>T (p.Ala1690Val) c.5194C>T n.3357C>T c.5267C>T (p.Ala1756Val) n.4088C>T n.2525C>T n.2496C>T n.2386C>T c.4928C>T (p.Ala1643Val) c.*4440C>T (n.*4440C>T) c.4964C>T (p.Ala1655Val) n.2996C>T c.1455C>T n.2388C>T c.5327C>T (p.Ala1776Val) c.5324C>T (p.Ala1775Val) c.5216C>T (p.Ala1739Val) c.5195C>T (p.Ala1732Val) c.4541C>T (p.Ala1514Val) c.5489C>T (p.Ala1830Val) c.5237C>T (p.Ala1746Val) c.3983C>T (p.Ala1328Val) | ClinVar dbSNP gnomAD v4 |
16 | g.2088460C>A | CA493043655 | TSC2 | c.*3623C>A (n.*3623C>A) c.5121C>A (p.Ala1707=) c.5271C>A (p.Ala1757=) c.*5787C>A (n.*5787C>A) c.*8023C>A (n.*8023C>A) c.5274C>A (p.Ala1758=) c.5205C>A (p.Ala1735=) c.5073C>A (p.Ala1691=) c.5106C>A (p.Ala1702=) c.1497C>A n.3156C>A c.3928C>A c.5133C>A (p.Ala1711=) n.871C>A c.5076C>A (p.Ala1692=) c.5142C>A (p.Ala1714=) c.5067C>A (p.Ala1689=) n.2922C>A c.5199C>A (p.Ala1733=) c.5145C>A (p.Ala1715=) c.5160C>A (p.Ala1720=) c.5070C>A (p.Ala1690=) c.5195C>A n.3358C>A c.5268C>A (p.Ala1756=) n.4089C>A n.2526C>A n.2497C>A n.2387C>A c.4929C>A (p.Ala1643=) c.*4441C>A (n.*4441C>A) c.4965C>A (p.Ala1655=) n.2997C>A c.1456C>A n.2389C>A c.5328C>A (p.Ala1776=) c.5325C>A (p.Ala1775=) c.5217C>A (p.Ala1739=) c.5196C>A (p.Ala1732=) c.4542C>A (p.Ala1514=) c.5490C>A (p.Ala1830=) c.5238C>A (p.Ala1746=) c.3984C>A (p.Ala1328=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088460C= | CA2202033383 | TSC2 | c.*3623C= (n.*3623C=) c.5121C= (p.Ala1707=) c.5271C= (p.Ala1757=) c.*5787C= (n.*5787C=) c.*8023C= (n.*8023C=) c.5274C= (p.Ala1758=) c.5205C= (p.Ala1735=) c.5073C= (p.Ala1691=) c.5106C= (p.Ala1702=) c.1497C= n.3156C= c.3928C= c.5133C= (p.Ala1711=) n.871C= c.5076C= (p.Ala1692=) c.5142C= (p.Ala1714=) c.5067C= (p.Ala1689=) n.2922C= c.5199C= (p.Ala1733=) c.5145C= (p.Ala1715=) c.5160C= (p.Ala1720=) c.5070C= (p.Ala1690=) c.5195C= n.3358C= c.5268C= (p.Ala1756=) n.4089C= n.2526C= n.2497C= n.2387C= c.4929C= (p.Ala1643=) c.*4441C= (n.*4441C=) c.4965C= (p.Ala1655=) n.2997C= c.1456C= n.2389C= c.5328C= (p.Ala1776=) c.5325C= (p.Ala1775=) c.5217C= (p.Ala1739=) c.5196C= (p.Ala1732=) c.4542C= (p.Ala1514=) c.5490C= (p.Ala1830=) c.5238C= (p.Ala1746=) c.3984C= (p.Ala1328=) | |
16 | g.2088460C>G | CA493043654 | TSC2 | c.*3623C>G (n.*3623C>G) c.5121C>G (p.Ala1707=) c.5271C>G (p.Ala1757=) c.*5787C>G (n.*5787C>G) c.*8023C>G (n.*8023C>G) c.5274C>G (p.Ala1758=) c.5205C>G (p.Ala1735=) c.5073C>G (p.Ala1691=) c.5106C>G (p.Ala1702=) c.1497C>G n.3156C>G c.3928C>G c.5133C>G (p.Ala1711=) n.871C>G c.5076C>G (p.Ala1692=) c.5142C>G (p.Ala1714=) c.5067C>G (p.Ala1689=) n.2922C>G c.5199C>G (p.Ala1733=) c.5145C>G (p.Ala1715=) c.5160C>G (p.Ala1720=) c.5070C>G (p.Ala1690=) c.5195C>G n.3358C>G c.5268C>G (p.Ala1756=) n.4089C>G n.2526C>G n.2497C>G n.2387C>G c.4929C>G (p.Ala1643=) c.*4441C>G (n.*4441C>G) c.4965C>G (p.Ala1655=) n.2997C>G c.1456C>G n.2389C>G c.5328C>G (p.Ala1776=) c.5325C>G (p.Ala1775=) c.5217C>G (p.Ala1739=) c.5196C>G (p.Ala1732=) c.4542C>G (p.Ala1514=) c.5490C>G (p.Ala1830=) c.5238C>G (p.Ala1746=) c.3984C>G (p.Ala1328=) | |
16 | g.2088460C>T | CA054919 | TSC2 | c.*3623C>T (n.*3623C>T) c.5121C>T (p.Ala1707=) c.5271C>T (p.Ala1757=) c.*5787C>T (n.*5787C>T) c.*8023C>T (n.*8023C>T) c.5274C>T (p.Ala1758=) c.5205C>T (p.Ala1735=) c.5073C>T (p.Ala1691=) c.5106C>T (p.Ala1702=) c.1497C>T n.3156C>T c.3928C>T c.5133C>T (p.Ala1711=) n.871C>T c.5076C>T (p.Ala1692=) c.5142C>T (p.Ala1714=) c.5067C>T (p.Ala1689=) n.2922C>T c.5199C>T (p.Ala1733=) c.5145C>T (p.Ala1715=) c.5160C>T (p.Ala1720=) c.5070C>T (p.Ala1690=) c.5195C>T n.3358C>T c.5268C>T (p.Ala1756=) n.4089C>T n.2526C>T n.2497C>T n.2387C>T c.4929C>T (p.Ala1643=) c.*4441C>T (n.*4441C>T) c.4965C>T (p.Ala1655=) n.2997C>T c.1456C>T n.2389C>T c.5328C>T (p.Ala1776=) c.5325C>T (p.Ala1775=) c.5217C>T (p.Ala1739=) c.5196C>T (p.Ala1732=) c.4542C>T (p.Ala1514=) c.5490C>T (p.Ala1830=) c.5238C>T (p.Ala1746=) c.3984C>T (p.Ala1328=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088460_2088476delinsCGCCTACTCCAACCCCA | CA2202033385 | TSC2 | c.*3623_*3639delinsCGCCTACTCCAACCCCA (n.*3623_*3639delinsCGCCTACTCCAACCCCA) c.5121_5137delinsCGCCTACTCCAACCCCA (p.Ala1707=) c.5271_5287delinsCGCCTACTCCAACCCCA (p.Ala1757=) c.*5787_*5803delinsCGCCTACTCCAACCCCA (n.*5787_*5803delinsCGCCTACTCCAACCCCA) c.*8023_*8039delinsCGCCTACTCCAACCCCA (n.*8023_*8039delinsCGCCTACTCCAACCCCA) c.5274_5290delinsCGCCTACTCCAACCCCA (p.Ala1758=) c.5205_5221delinsCGCCTACTCCAACCCCA (p.Ala1735=) c.5073_5089delinsCGCCTACTCCAACCCCA (p.Ala1691=) c.5106_5122delinsCGCCTACTCCAACCCCA (p.Ala1702=) c.1497_1513delinsCGCCTACTCCAACCCCA n.3156_3172delinsCGCCTACTCCAACCCCA c.3928_3944delinsCGCCTACTCCAACCCCA c.5133_5149delinsCGCCTACTCCAACCCCA (p.Ala1711=) n.871_887delinsCGCCTACTCCAACCCCA c.5076_5092delinsCGCCTACTCCAACCCCA (p.Ala1692=) c.5142_5158delinsCGCCTACTCCAACCCCA (p.Ala1714=) c.5067_5083delinsCGCCTACTCCAACCCCA (p.Ala1689=) n.2922_2938delinsCGCCTACTCCAACCCCA c.5199_5215delinsCGCCTACTCCAACCCCA (p.Ala1733=) c.5145_5161delinsCGCCTACTCCAACCCCA (p.Ala1715=) c.5160_5176delinsCGCCTACTCCAACCCCA (p.Ala1720=) c.5070_5086delinsCGCCTACTCCAACCCCA (p.Ala1690=) c.5195_5211delinsCGCCTACTCCAACCCCA n.3358_3374delinsCGCCTACTCCAACCCCA c.5268_5284delinsCGCCTACTCCAACCCCA (p.Ala1756=) n.4089_4105delinsCGCCTACTCCAACCCCA n.2526_2542delinsCGCCTACTCCAACCCCA n.2497_2513delinsCGCCTACTCCAACCCCA n.2387_2403delinsCGCCTACTCCAACCCCA c.4929_4945delinsCGCCTACTCCAACCCCA (p.Ala1643=) c.*4441_*4457delinsCGCCTACTCCAACCCCA (n.*4441_*4457delinsCGCCTACTCCAACCCCA) c.4965_4981delinsCGCCTACTCCAACCCCA (p.Ala1655=) n.2997_3013delinsCGCCTACTCCAACCCCA c.1456_1472delinsCGCCTACTCCAACCCCA n.2389_2405delinsCGCCTACTCCAACCCCA c.5328_5344delinsCGCCTACTCCAACCCCA (p.Ala1776=) c.5325_5341delinsCGCCTACTCCAACCCCA (p.Ala1775=) c.5217_5233delinsCGCCTACTCCAACCCCA (p.Ala1739=) c.5196_5212delinsCGCCTACTCCAACCCCA (p.Ala1732=) c.4542_4558delinsCGCCTACTCCAACCCCA (p.Ala1514=) c.5490_5506delinsCGCCTACTCCAACCCCA (p.Ala1830=) c.5238_5254delinsCGCCTACTCCAACCCCA (p.Ala1746=) c.3984_4000delinsCGCCTACTCCAACCCCA (p.Ala1328=) | |
16 | g.2088461G>A | CA022355 | TSC2 | c.*3624G>A (n.*3624G>A) c.5122G>A (p.Ala1708Thr) c.5272G>A (p.Ala1758Thr) c.*5788G>A (n.*5788G>A) c.*8024G>A (n.*8024G>A) c.5275G>A (p.Ala1759Thr) c.5206G>A (p.Ala1736Thr) c.5074G>A (p.Ala1692Thr) c.5107G>A (p.Ala1703Thr) c.1498G>A n.3157G>A c.3929G>A c.5134G>A (p.Ala1712Thr) n.872G>A c.5077G>A (p.Ala1693Thr) c.5143G>A (p.Ala1715Thr) c.5068G>A (p.Ala1690Thr) n.2923G>A c.5200G>A (p.Ala1734Thr) c.5146G>A (p.Ala1716Thr) c.5161G>A (p.Ala1721Thr) c.5071G>A (p.Ala1691Thr) c.5196G>A n.3359G>A c.5269G>A (p.Ala1757Thr) n.4090G>A n.2527G>A n.2498G>A n.2388G>A c.4930G>A (p.Ala1644Thr) c.*4442G>A (n.*4442G>A) c.4966G>A (p.Ala1656Thr) n.2998G>A c.1457G>A n.2390G>A c.5329G>A (p.Ala1777Thr) c.5326G>A (p.Ala1776Thr) c.5218G>A (p.Ala1740Thr) c.5197G>A (p.Ala1733Thr) c.4543G>A (p.Ala1515Thr) c.5491G>A (p.Ala1831Thr) c.5239G>A (p.Ala1747Thr) c.3985G>A (p.Ala1329Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088461G>C | CA394315146 | TSC2 | c.*3624G>C (n.*3624G>C) c.5122G>C (p.Ala1708Pro) c.5272G>C (p.Ala1758Pro) c.*5788G>C (n.*5788G>C) c.*8024G>C (n.*8024G>C) c.5275G>C (p.Ala1759Pro) c.5206G>C (p.Ala1736Pro) c.5074G>C (p.Ala1692Pro) c.5107G>C (p.Ala1703Pro) c.1498G>C n.3157G>C c.3929G>C c.5134G>C (p.Ala1712Pro) n.872G>C c.5077G>C (p.Ala1693Pro) c.5143G>C (p.Ala1715Pro) c.5068G>C (p.Ala1690Pro) n.2923G>C c.5200G>C (p.Ala1734Pro) c.5146G>C (p.Ala1716Pro) c.5161G>C (p.Ala1721Pro) c.5071G>C (p.Ala1691Pro) c.5196G>C n.3359G>C c.5269G>C (p.Ala1757Pro) n.4090G>C n.2527G>C n.2498G>C n.2388G>C c.4930G>C (p.Ala1644Pro) c.*4442G>C (n.*4442G>C) c.4966G>C (p.Ala1656Pro) n.2998G>C c.1457G>C n.2390G>C c.5329G>C (p.Ala1777Pro) c.5326G>C (p.Ala1776Pro) c.5218G>C (p.Ala1740Pro) c.5197G>C (p.Ala1733Pro) c.4543G>C (p.Ala1515Pro) c.5491G>C (p.Ala1831Pro) c.5239G>C (p.Ala1747Pro) c.3985G>C (p.Ala1329Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.2088461G= | CA2202033399 | TSC2 | c.*3624G= (n.*3624G=) c.5122G= (p.Ala1708=) c.5272G= (p.Ala1758=) c.*5788G= (n.*5788G=) c.*8024G= (n.*8024G=) c.5275G= (p.Ala1759=) c.5206G= (p.Ala1736=) c.5074G= (p.Ala1692=) c.5107G= (p.Ala1703=) c.1498G= n.3157G= c.3929G= c.5134G= (p.Ala1712=) n.872G= c.5077G= (p.Ala1693=) c.5143G= (p.Ala1715=) c.5068G= (p.Ala1690=) n.2923G= c.5200G= (p.Ala1734=) c.5146G= (p.Ala1716=) c.5161G= (p.Ala1721=) c.5071G= (p.Ala1691=) c.5196G= n.3359G= c.5269G= (p.Ala1757=) n.4090G= n.2527G= n.2498G= n.2388G= c.4930G= (p.Ala1644=) c.*4442G= (n.*4442G=) c.4966G= (p.Ala1656=) n.2998G= c.1457G= n.2390G= c.5329G= (p.Ala1777=) c.5326G= (p.Ala1776=) c.5218G= (p.Ala1740=) c.5197G= (p.Ala1733=) c.4543G= (p.Ala1515=) c.5491G= (p.Ala1831=) c.5239G= (p.Ala1747=) c.3985G= (p.Ala1329=) | |
16 | g.2088461G>T | CA394315149 | TSC2 | c.*3624G>T (n.*3624G>T) c.5122G>T (p.Ala1708Ser) c.5272G>T (p.Ala1758Ser) c.*5788G>T (n.*5788G>T) c.*8024G>T (n.*8024G>T) c.5275G>T (p.Ala1759Ser) c.5206G>T (p.Ala1736Ser) c.5074G>T (p.Ala1692Ser) c.5107G>T (p.Ala1703Ser) c.1498G>T n.3157G>T c.3929G>T c.5134G>T (p.Ala1712Ser) n.872G>T c.5077G>T (p.Ala1693Ser) c.5143G>T (p.Ala1715Ser) c.5068G>T (p.Ala1690Ser) n.2923G>T c.5200G>T (p.Ala1734Ser) c.5146G>T (p.Ala1716Ser) c.5161G>T (p.Ala1721Ser) c.5071G>T (p.Ala1691Ser) c.5196G>T n.3359G>T c.5269G>T (p.Ala1757Ser) n.4090G>T n.2527G>T n.2498G>T n.2388G>T c.4930G>T (p.Ala1644Ser) c.*4442G>T (n.*4442G>T) c.4966G>T (p.Ala1656Ser) n.2998G>T c.1457G>T n.2390G>T c.5329G>T (p.Ala1777Ser) c.5326G>T (p.Ala1776Ser) c.5218G>T (p.Ala1740Ser) c.5197G>T (p.Ala1733Ser) c.4543G>T (p.Ala1515Ser) c.5491G>T (p.Ala1831Ser) c.5239G>T (p.Ala1747Ser) c.3985G>T (p.Ala1329Ser) | |
16 | g.2088467_2088482del | CA16614837 | TSC2 | c.*3630_*3645del (n.*3630_*3645del) c.5128_5143del (p.Ser1710LeufsTer?) c.5278_5293del (p.Ser1760LeufsTer?) c.*5794_*5809del (n.*5794_*5809del) c.*8030_*8045del (n.*8030_*8045del) c.5281_5296del (p.Ser1761LeufsTer?) c.5212_5227del (p.Ser1738LeufsTer?) c.5080_5095del (p.Ser1694LeufsTer?) c.5113_5128del (p.Ser1705LeufsTer?) c.1504_1519del n.3163_3178del c.3935_3950del c.5140_5155del (p.Ser1714LeufsTer?) n.878_893del c.5083_5098del (p.Ser1695LeufsTer?) c.5149_5164del (p.Ser1717LeufsTer?) c.5074_5089del (p.Ser1692LeufsTer?) n.2929_2944del c.5206_5221del (p.Ser1736LeufsTer?) c.5152_5167del (p.Ser1718LeufsTer?) c.5167_5182del (p.Ser1723LeufsTer?) c.5077_5092del (p.Ser1693LeufsTer?) c.5202_5217del n.3365_3380del c.5275_5290del (p.Ser1759LeufsTer?) n.4096_4111del n.2533_2548del n.2504_2519del n.2394_2409del c.4936_4951del (p.Ser1646LeufsTer?) c.*4448_*4463del (n.*4448_*4463del) c.4972_4987del (p.Ser1658LeufsTer?) n.3004_3019del c.1463_1478del n.2396_2411del c.5335_5350del (p.Ser1779LeufsTer?) c.5332_5347del (p.Ser1778LeufsTer?) c.5224_5239del (p.Ser1742LeufsTer?) c.5203_5218del (p.Ser1735LeufsTer?) c.4549_4564del (p.Ser1517LeufsTer?) c.5497_5512del (p.Ser1833LeufsTer?) c.5245_5260del (p.Ser1749LeufsTer?) c.3991_4006del (p.Ser1331LeufsTer?) | ClinVar dbSNP |
16 | g.2088462C>A | CA022359 | TSC2 | c.*3625C>A (n.*3625C>A) c.5123C>A (p.Ala1708Asp) c.5273C>A (p.Ala1758Asp) c.*5789C>A (n.*5789C>A) c.*8025C>A (n.*8025C>A) c.5276C>A (p.Ala1759Asp) c.5207C>A (p.Ala1736Asp) c.5075C>A (p.Ala1692Asp) c.5108C>A (p.Ala1703Asp) c.1499C>A n.3158C>A c.3930C>A c.5135C>A (p.Ala1712Asp) n.873C>A c.5078C>A (p.Ala1693Asp) c.5144C>A (p.Ala1715Asp) c.5069C>A (p.Ala1690Asp) n.2924C>A c.5201C>A (p.Ala1734Asp) c.5147C>A (p.Ala1716Asp) c.5162C>A (p.Ala1721Asp) c.5072C>A (p.Ala1691Asp) c.5197C>A n.3360C>A c.5270C>A (p.Ala1757Asp) n.4091C>A n.2528C>A n.2499C>A n.2389C>A c.4931C>A (p.Ala1644Asp) c.*4443C>A (n.*4443C>A) c.4967C>A (p.Ala1656Asp) n.2999C>A c.1458C>A n.2391C>A c.5330C>A (p.Ala1777Asp) c.5327C>A (p.Ala1776Asp) c.5219C>A (p.Ala1740Asp) c.5198C>A (p.Ala1733Asp) c.4544C>A (p.Ala1515Asp) c.5492C>A (p.Ala1831Asp) c.5240C>A (p.Ala1747Asp) c.3986C>A (p.Ala1329Asp) | ClinVar dbSNP |
16 | g.2088462C= | CA2202033415 | TSC2 | c.*3625C= (n.*3625C=) c.5123C= (p.Ala1708=) c.5273C= (p.Ala1758=) c.*5789C= (n.*5789C=) c.*8025C= (n.*8025C=) c.5276C= (p.Ala1759=) c.5207C= (p.Ala1736=) c.5075C= (p.Ala1692=) c.5108C= (p.Ala1703=) c.1499C= n.3158C= c.3930C= c.5135C= (p.Ala1712=) n.873C= c.5078C= (p.Ala1693=) c.5144C= (p.Ala1715=) c.5069C= (p.Ala1690=) n.2924C= c.5201C= (p.Ala1734=) c.5147C= (p.Ala1716=) c.5162C= (p.Ala1721=) c.5072C= (p.Ala1691=) c.5197C= n.3360C= c.5270C= (p.Ala1757=) n.4091C= n.2528C= n.2499C= n.2389C= c.4931C= (p.Ala1644=) c.*4443C= (n.*4443C=) c.4967C= (p.Ala1656=) n.2999C= c.1458C= n.2391C= c.5330C= (p.Ala1777=) c.5327C= (p.Ala1776=) c.5219C= (p.Ala1740=) c.5198C= (p.Ala1733=) c.4544C= (p.Ala1515=) c.5492C= (p.Ala1831=) c.5240C= (p.Ala1747=) c.3986C= (p.Ala1329=) | |
16 | g.2088462C>G | CA394315162 | TSC2 | c.*3625C>G (n.*3625C>G) c.5123C>G (p.Ala1708Gly) c.5273C>G (p.Ala1758Gly) c.*5789C>G (n.*5789C>G) c.*8025C>G (n.*8025C>G) c.5276C>G (p.Ala1759Gly) c.5207C>G (p.Ala1736Gly) c.5075C>G (p.Ala1692Gly) c.5108C>G (p.Ala1703Gly) c.1499C>G n.3158C>G c.3930C>G c.5135C>G (p.Ala1712Gly) n.873C>G c.5078C>G (p.Ala1693Gly) c.5144C>G (p.Ala1715Gly) c.5069C>G (p.Ala1690Gly) n.2924C>G c.5201C>G (p.Ala1734Gly) c.5147C>G (p.Ala1716Gly) c.5162C>G (p.Ala1721Gly) c.5072C>G (p.Ala1691Gly) c.5197C>G n.3360C>G c.5270C>G (p.Ala1757Gly) n.4091C>G n.2528C>G n.2499C>G n.2389C>G c.4931C>G (p.Ala1644Gly) c.*4443C>G (n.*4443C>G) c.4967C>G (p.Ala1656Gly) n.2999C>G c.1458C>G n.2391C>G c.5330C>G (p.Ala1777Gly) c.5327C>G (p.Ala1776Gly) c.5219C>G (p.Ala1740Gly) c.5198C>G (p.Ala1733Gly) c.4544C>G (p.Ala1515Gly) c.5492C>G (p.Ala1831Gly) c.5240C>G (p.Ala1747Gly) c.3986C>G (p.Ala1329Gly) | |
16 | g.2088462C>T | CA054932 | TSC2 | c.*3625C>T (n.*3625C>T) c.5123C>T (p.Ala1708Val) c.5273C>T (p.Ala1758Val) c.*5789C>T (n.*5789C>T) c.*8025C>T (n.*8025C>T) c.5276C>T (p.Ala1759Val) c.5207C>T (p.Ala1736Val) c.5075C>T (p.Ala1692Val) c.5108C>T (p.Ala1703Val) c.1499C>T n.3158C>T c.3930C>T c.5135C>T (p.Ala1712Val) n.873C>T c.5078C>T (p.Ala1693Val) c.5144C>T (p.Ala1715Val) c.5069C>T (p.Ala1690Val) n.2924C>T c.5201C>T (p.Ala1734Val) c.5147C>T (p.Ala1716Val) c.5162C>T (p.Ala1721Val) c.5072C>T (p.Ala1691Val) c.5197C>T n.3360C>T c.5270C>T (p.Ala1757Val) n.4091C>T n.2528C>T n.2499C>T n.2389C>T c.4931C>T (p.Ala1644Val) c.*4443C>T (n.*4443C>T) c.4967C>T (p.Ala1656Val) n.2999C>T c.1458C>T n.2391C>T c.5330C>T (p.Ala1777Val) c.5327C>T (p.Ala1776Val) c.5219C>T (p.Ala1740Val) c.5198C>T (p.Ala1733Val) c.4544C>T (p.Ala1515Val) c.5492C>T (p.Ala1831Val) c.5240C>T (p.Ala1747Val) c.3986C>T (p.Ala1329Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088463del | CA2697549445 | TSC2 | c.*3626del (n.*3626del) c.5124del (p.Tyr1709ThrfsTer?) c.5274del (p.Tyr1759ThrfsTer?) c.*5790del (n.*5790del) c.*8026del (n.*8026del) c.5277del (p.Tyr1760ThrfsTer?) c.5208del (p.Tyr1737ThrfsTer?) c.5076del (p.Tyr1693ThrfsTer?) c.5109del (p.Tyr1704ThrfsTer?) c.1500del n.3159del c.3931del c.5136del (p.Tyr1713ThrfsTer?) n.874del c.5079del (p.Tyr1694ThrfsTer?) c.5145del (p.Tyr1716ThrfsTer?) c.5070del (p.Tyr1691ThrfsTer?) n.2925del c.5202del (p.Tyr1735ThrfsTer?) c.5148del (p.Tyr1717ThrfsTer?) c.5163del (p.Tyr1722ThrfsTer?) c.5073del (p.Tyr1692ThrfsTer?) c.5198del n.3361del c.5271del (p.Tyr1758ThrfsTer?) n.4092del n.2529del n.2500del n.2390del c.4932del (p.Tyr1645ThrfsTer?) c.*4444del (n.*4444del) c.4968del (p.Tyr1657ThrfsTer?) n.3000del c.1459del n.2392del c.5331del (p.Tyr1778ThrfsTer?) c.5328del (p.Tyr1777ThrfsTer?) c.5220del (p.Tyr1741ThrfsTer?) c.5199del (p.Tyr1734ThrfsTer?) c.4545del (p.Tyr1516ThrfsTer?) c.5493del (p.Tyr1832ThrfsTer?) c.5241del (p.Tyr1748ThrfsTer?) c.3987del (p.Tyr1330ThrfsTer?) | ClinVar |
16 | g.2088463C>A | CA493043657 | TSC2 | c.*3626C>A (n.*3626C>A) c.5124C>A (p.Ala1708=) c.5274C>A (p.Ala1758=) c.*5790C>A (n.*5790C>A) c.*8026C>A (n.*8026C>A) c.5277C>A (p.Ala1759=) c.5208C>A (p.Ala1736=) c.5076C>A (p.Ala1692=) c.5109C>A (p.Ala1703=) c.1500C>A n.3159C>A c.3931C>A c.5136C>A (p.Ala1712=) n.874C>A c.5079C>A (p.Ala1693=) c.5145C>A (p.Ala1715=) c.5070C>A (p.Ala1690=) n.2925C>A c.5202C>A (p.Ala1734=) c.5148C>A (p.Ala1716=) c.5163C>A (p.Ala1721=) c.5073C>A (p.Ala1691=) c.5198C>A n.3361C>A c.5271C>A (p.Ala1757=) n.4092C>A n.2529C>A n.2500C>A n.2390C>A c.4932C>A (p.Ala1644=) c.*4444C>A (n.*4444C>A) c.4968C>A (p.Ala1656=) n.3000C>A c.1459C>A n.2392C>A c.5331C>A (p.Ala1777=) c.5328C>A (p.Ala1776=) c.5220C>A (p.Ala1740=) c.5199C>A (p.Ala1733=) c.4545C>A (p.Ala1515=) c.5493C>A (p.Ala1831=) c.5241C>A (p.Ala1747=) c.3987C>A (p.Ala1329=) | |
16 | g.2088463C>G | CA493043658 | TSC2 | c.*3626C>G (n.*3626C>G) c.5124C>G (p.Ala1708=) c.5274C>G (p.Ala1758=) c.*5790C>G (n.*5790C>G) c.*8026C>G (n.*8026C>G) c.5277C>G (p.Ala1759=) c.5208C>G (p.Ala1736=) c.5076C>G (p.Ala1692=) c.5109C>G (p.Ala1703=) c.1500C>G n.3159C>G c.3931C>G c.5136C>G (p.Ala1712=) n.874C>G c.5079C>G (p.Ala1693=) c.5145C>G (p.Ala1715=) c.5070C>G (p.Ala1690=) n.2925C>G c.5202C>G (p.Ala1734=) c.5148C>G (p.Ala1716=) c.5163C>G (p.Ala1721=) c.5073C>G (p.Ala1691=) c.5198C>G n.3361C>G c.5271C>G (p.Ala1757=) n.4092C>G n.2529C>G n.2500C>G n.2390C>G c.4932C>G (p.Ala1644=) c.*4444C>G (n.*4444C>G) c.4968C>G (p.Ala1656=) n.3000C>G c.1459C>G n.2392C>G c.5331C>G (p.Ala1777=) c.5328C>G (p.Ala1776=) c.5220C>G (p.Ala1740=) c.5199C>G (p.Ala1733=) c.4545C>G (p.Ala1515=) c.5493C>G (p.Ala1831=) c.5241C>G (p.Ala1747=) c.3987C>G (p.Ala1329=) | ClinVar dbSNP |
16 | g.2088463C>T | CA493043659 | TSC2 | c.*3626C>T (n.*3626C>T) c.5124C>T (p.Ala1708=) c.5274C>T (p.Ala1758=) c.*5790C>T (n.*5790C>T) c.*8026C>T (n.*8026C>T) c.5277C>T (p.Ala1759=) c.5208C>T (p.Ala1736=) c.5076C>T (p.Ala1692=) c.5109C>T (p.Ala1703=) c.1500C>T n.3159C>T c.3931C>T c.5136C>T (p.Ala1712=) n.874C>T c.5079C>T (p.Ala1693=) c.5145C>T (p.Ala1715=) c.5070C>T (p.Ala1690=) n.2925C>T c.5202C>T (p.Ala1734=) c.5148C>T (p.Ala1716=) c.5163C>T (p.Ala1721=) c.5073C>T (p.Ala1691=) c.5198C>T n.3361C>T c.5271C>T (p.Ala1757=) n.4092C>T n.2529C>T n.2500C>T n.2390C>T c.4932C>T (p.Ala1644=) c.*4444C>T (n.*4444C>T) c.4968C>T (p.Ala1656=) n.3000C>T c.1459C>T n.2392C>T c.5331C>T (p.Ala1777=) c.5328C>T (p.Ala1776=) c.5220C>T (p.Ala1740=) c.5199C>T (p.Ala1733=) c.4545C>T (p.Ala1515=) c.5493C>T (p.Ala1831=) c.5241C>T (p.Ala1747=) c.3987C>T (p.Ala1329=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088464del | CA2695221757 | TSC2 | c.*3627del (n.*3627del) c.5125del (p.Tyr1709ThrfsTer?) c.5275del (p.Tyr1759ThrfsTer?) c.*5791del (n.*5791del) c.*8027del (n.*8027del) c.5278del (p.Tyr1760ThrfsTer?) c.5209del (p.Tyr1737ThrfsTer?) c.5077del (p.Tyr1693ThrfsTer?) c.5110del (p.Tyr1704ThrfsTer?) c.1501del n.3160del c.3932del c.5137del (p.Tyr1713ThrfsTer?) n.875del c.5080del (p.Tyr1694ThrfsTer?) c.5146del (p.Tyr1716ThrfsTer?) c.5071del (p.Tyr1691ThrfsTer?) n.2926del c.5203del (p.Tyr1735ThrfsTer?) c.5149del (p.Tyr1717ThrfsTer?) c.5164del (p.Tyr1722ThrfsTer?) c.5074del (p.Tyr1692ThrfsTer?) c.5199del n.3362del c.5272del (p.Tyr1758ThrfsTer?) n.4093del n.2530del n.2501del n.2391del c.4933del (p.Tyr1645ThrfsTer?) c.*4445del (n.*4445del) c.4969del (p.Tyr1657ThrfsTer?) n.3001del c.1460del n.2393del c.5332del (p.Tyr1778ThrfsTer?) c.5329del (p.Tyr1777ThrfsTer?) c.5221del (p.Tyr1741ThrfsTer?) c.5200del (p.Tyr1734ThrfsTer?) c.4546del (p.Tyr1516ThrfsTer?) c.5494del (p.Tyr1832ThrfsTer?) c.5242del (p.Tyr1748ThrfsTer?) c.3988del (p.Tyr1330ThrfsTer?) | |
16 | g.2088464T>A | CA394315167 | TSC2 | c.*3627T>A (n.*3627T>A) c.5125T>A (p.Tyr1709Asn) c.5275T>A (p.Tyr1759Asn) c.*5791T>A (n.*5791T>A) c.*8027T>A (n.*8027T>A) c.5278T>A (p.Tyr1760Asn) c.5209T>A (p.Tyr1737Asn) c.5077T>A (p.Tyr1693Asn) c.5110T>A (p.Tyr1704Asn) c.1501T>A n.3160T>A c.3932T>A c.5137T>A (p.Tyr1713Asn) n.875T>A c.5080T>A (p.Tyr1694Asn) c.5146T>A (p.Tyr1716Asn) c.5071T>A (p.Tyr1691Asn) n.2926T>A c.5203T>A (p.Tyr1735Asn) c.5149T>A (p.Tyr1717Asn) c.5164T>A (p.Tyr1722Asn) c.5074T>A (p.Tyr1692Asn) c.5199T>A n.3362T>A c.5272T>A (p.Tyr1758Asn) n.4093T>A n.2530T>A n.2501T>A n.2391T>A c.4933T>A (p.Tyr1645Asn) c.*4445T>A (n.*4445T>A) c.4969T>A (p.Tyr1657Asn) n.3001T>A c.1460T>A n.2393T>A c.5332T>A (p.Tyr1778Asn) c.5329T>A (p.Tyr1777Asn) c.5221T>A (p.Tyr1741Asn) c.5200T>A (p.Tyr1734Asn) c.4546T>A (p.Tyr1516Asn) c.5494T>A (p.Tyr1832Asn) c.5242T>A (p.Tyr1748Asn) c.3988T>A (p.Tyr1330Asn) | |
16 | g.2088464T>C | CA394315169 | TSC2 | c.*3627T>C (n.*3627T>C) c.5125T>C (p.Tyr1709His) c.5275T>C (p.Tyr1759His) c.*5791T>C (n.*5791T>C) c.*8027T>C (n.*8027T>C) c.5278T>C (p.Tyr1760His) c.5209T>C (p.Tyr1737His) c.5077T>C (p.Tyr1693His) c.5110T>C (p.Tyr1704His) c.1501T>C n.3160T>C c.3932T>C c.5137T>C (p.Tyr1713His) n.875T>C c.5080T>C (p.Tyr1694His) c.5146T>C (p.Tyr1716His) c.5071T>C (p.Tyr1691His) n.2926T>C c.5203T>C (p.Tyr1735His) c.5149T>C (p.Tyr1717His) c.5164T>C (p.Tyr1722His) c.5074T>C (p.Tyr1692His) c.5199T>C n.3362T>C c.5272T>C (p.Tyr1758His) n.4093T>C n.2530T>C n.2501T>C n.2391T>C c.4933T>C (p.Tyr1645His) c.*4445T>C (n.*4445T>C) c.4969T>C (p.Tyr1657His) n.3001T>C c.1460T>C n.2393T>C c.5332T>C (p.Tyr1778His) c.5329T>C (p.Tyr1777His) c.5221T>C (p.Tyr1741His) c.5200T>C (p.Tyr1734His) c.4546T>C (p.Tyr1516His) c.5494T>C (p.Tyr1832His) c.5242T>C (p.Tyr1748His) c.3988T>C (p.Tyr1330His) | ClinVar dbSNP gnomAD v4 |
16 | g.2088464T>G | CA394315174 | TSC2 | c.*3627T>G (n.*3627T>G) c.5125T>G (p.Tyr1709Asp) c.5275T>G (p.Tyr1759Asp) c.*5791T>G (n.*5791T>G) c.*8027T>G (n.*8027T>G) c.5278T>G (p.Tyr1760Asp) c.5209T>G (p.Tyr1737Asp) c.5077T>G (p.Tyr1693Asp) c.5110T>G (p.Tyr1704Asp) c.1501T>G n.3160T>G c.3932T>G c.5137T>G (p.Tyr1713Asp) n.875T>G c.5080T>G (p.Tyr1694Asp) c.5146T>G (p.Tyr1716Asp) c.5071T>G (p.Tyr1691Asp) n.2926T>G c.5203T>G (p.Tyr1735Asp) c.5149T>G (p.Tyr1717Asp) c.5164T>G (p.Tyr1722Asp) c.5074T>G (p.Tyr1692Asp) c.5199T>G n.3362T>G c.5272T>G (p.Tyr1758Asp) n.4093T>G n.2530T>G n.2501T>G n.2391T>G c.4933T>G (p.Tyr1645Asp) c.*4445T>G (n.*4445T>G) c.4969T>G (p.Tyr1657Asp) n.3001T>G c.1460T>G n.2393T>G c.5332T>G (p.Tyr1778Asp) c.5329T>G (p.Tyr1777Asp) c.5221T>G (p.Tyr1741Asp) c.5200T>G (p.Tyr1734Asp) c.4546T>G (p.Tyr1516Asp) c.5494T>G (p.Tyr1832Asp) c.5242T>G (p.Tyr1748Asp) c.3988T>G (p.Tyr1330Asp) | |
16 | g.2088465A= | CA2202033421 | TSC2 | c.*3628A= (n.*3628A=) c.5126A= (p.Tyr1709=) c.5276A= (p.Tyr1759=) c.*5792A= (n.*5792A=) c.*8028A= (n.*8028A=) c.5279A= (p.Tyr1760=) c.5210A= (p.Tyr1737=) c.5078A= (p.Tyr1693=) c.5111A= (p.Tyr1704=) c.1502A= n.3161A= c.3933A= c.5138A= (p.Tyr1713=) n.876A= c.5081A= (p.Tyr1694=) c.5147A= (p.Tyr1716=) c.5072A= (p.Tyr1691=) n.2927A= c.5204A= (p.Tyr1735=) c.5150A= (p.Tyr1717=) c.5165A= (p.Tyr1722=) c.5075A= (p.Tyr1692=) c.5200A= n.3363A= c.5273A= (p.Tyr1758=) n.4094A= n.2531A= n.2502A= n.2392A= c.4934A= (p.Tyr1645=) c.*4446A= (n.*4446A=) c.4970A= (p.Tyr1657=) n.3002A= c.1461A= n.2394A= c.5333A= (p.Tyr1778=) c.5330A= (p.Tyr1777=) c.5222A= (p.Tyr1741=) c.5201A= (p.Tyr1734=) c.4547A= (p.Tyr1516=) c.5495A= (p.Tyr1832=) c.5243A= (p.Tyr1748=) c.3989A= (p.Tyr1330=) | |
16 | g.2088465A>C | CA394315177 | TSC2 | c.*3628A>C (n.*3628A>C) c.5126A>C (p.Tyr1709Ser) c.5276A>C (p.Tyr1759Ser) c.*5792A>C (n.*5792A>C) c.*8028A>C (n.*8028A>C) c.5279A>C (p.Tyr1760Ser) c.5210A>C (p.Tyr1737Ser) c.5078A>C (p.Tyr1693Ser) c.5111A>C (p.Tyr1704Ser) c.1502A>C n.3161A>C c.3933A>C c.5138A>C (p.Tyr1713Ser) n.876A>C c.5081A>C (p.Tyr1694Ser) c.5147A>C (p.Tyr1716Ser) c.5072A>C (p.Tyr1691Ser) n.2927A>C c.5204A>C (p.Tyr1735Ser) c.5150A>C (p.Tyr1717Ser) c.5165A>C (p.Tyr1722Ser) c.5075A>C (p.Tyr1692Ser) c.5200A>C n.3363A>C c.5273A>C (p.Tyr1758Ser) n.4094A>C n.2531A>C n.2502A>C n.2392A>C c.4934A>C (p.Tyr1645Ser) c.*4446A>C (n.*4446A>C) c.4970A>C (p.Tyr1657Ser) n.3002A>C c.1461A>C n.2394A>C c.5333A>C (p.Tyr1778Ser) c.5330A>C (p.Tyr1777Ser) c.5222A>C (p.Tyr1741Ser) c.5201A>C (p.Tyr1734Ser) c.4547A>C (p.Tyr1516Ser) c.5495A>C (p.Tyr1832Ser) c.5243A>C (p.Tyr1748Ser) c.3989A>C (p.Tyr1330Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.2088465A>G | CA394315180 | TSC2 | c.*3628A>G (n.*3628A>G) c.5126A>G (p.Tyr1709Cys) c.5276A>G (p.Tyr1759Cys) c.*5792A>G (n.*5792A>G) c.*8028A>G (n.*8028A>G) c.5279A>G (p.Tyr1760Cys) c.5210A>G (p.Tyr1737Cys) c.5078A>G (p.Tyr1693Cys) c.5111A>G (p.Tyr1704Cys) c.1502A>G n.3161A>G c.3933A>G c.5138A>G (p.Tyr1713Cys) n.876A>G c.5081A>G (p.Tyr1694Cys) c.5147A>G (p.Tyr1716Cys) c.5072A>G (p.Tyr1691Cys) n.2927A>G c.5204A>G (p.Tyr1735Cys) c.5150A>G (p.Tyr1717Cys) c.5165A>G (p.Tyr1722Cys) c.5075A>G (p.Tyr1692Cys) c.5200A>G n.3363A>G c.5273A>G (p.Tyr1758Cys) n.4094A>G n.2531A>G n.2502A>G n.2392A>G c.4934A>G (p.Tyr1645Cys) c.*4446A>G (n.*4446A>G) c.4970A>G (p.Tyr1657Cys) n.3002A>G c.1461A>G n.2394A>G c.5333A>G (p.Tyr1778Cys) c.5330A>G (p.Tyr1777Cys) c.5222A>G (p.Tyr1741Cys) c.5201A>G (p.Tyr1734Cys) c.4547A>G (p.Tyr1516Cys) c.5495A>G (p.Tyr1832Cys) c.5243A>G (p.Tyr1748Cys) c.3989A>G (p.Tyr1330Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088465A>T | CA394315182 | TSC2 | c.*3628A>T (n.*3628A>T) c.5126A>T (p.Tyr1709Phe) c.5276A>T (p.Tyr1759Phe) c.*5792A>T (n.*5792A>T) c.*8028A>T (n.*8028A>T) c.5279A>T (p.Tyr1760Phe) c.5210A>T (p.Tyr1737Phe) c.5078A>T (p.Tyr1693Phe) c.5111A>T (p.Tyr1704Phe) c.1502A>T n.3161A>T c.3933A>T c.5138A>T (p.Tyr1713Phe) n.876A>T c.5081A>T (p.Tyr1694Phe) c.5147A>T (p.Tyr1716Phe) c.5072A>T (p.Tyr1691Phe) n.2927A>T c.5204A>T (p.Tyr1735Phe) c.5150A>T (p.Tyr1717Phe) c.5165A>T (p.Tyr1722Phe) c.5075A>T (p.Tyr1692Phe) c.5200A>T n.3363A>T c.5273A>T (p.Tyr1758Phe) n.4094A>T n.2531A>T n.2502A>T n.2392A>T c.4934A>T (p.Tyr1645Phe) c.*4446A>T (n.*4446A>T) c.4970A>T (p.Tyr1657Phe) n.3002A>T c.1461A>T n.2394A>T c.5333A>T (p.Tyr1778Phe) c.5330A>T (p.Tyr1777Phe) c.5222A>T (p.Tyr1741Phe) c.5201A>T (p.Tyr1734Phe) c.4547A>T (p.Tyr1516Phe) c.5495A>T (p.Tyr1832Phe) c.5243A>T (p.Tyr1748Phe) c.3989A>T (p.Tyr1330Phe) | |
16 | g.2088465_2088468dup | CA2580091185 | TSC2 | c.*3628_*3631dup (n.*3628_*3631dup) c.5126_5129dup (p.Asn1711LeufsTer14) c.5276_5279dup (p.Asn1761LeufsTer14) c.*5792_*5795dup (n.*5792_*5795dup) c.*8028_*8031dup (n.*8028_*8031dup) c.5279_5282dup (p.Asn1762LeufsTer14) c.5210_5213dup (p.Asn1739LeufsTer14) c.5078_5081dup (p.Asn1695LeufsTer14) c.5111_5114dup (p.Asn1706LeufsTer14) c.1502_1505dup n.3161_3164dup c.3933_3936dup c.5138_5141dup (p.Asn1715LeufsTer14) n.876_879dup c.5081_5084dup (p.Asn1696LeufsTer14) c.5147_5150dup (p.Asn1718LeufsTer14) c.5072_5075dup (p.Asn1693LeufsTer14) n.2927_2930dup c.5204_5207dup (p.Asn1737LeufsTer14) c.5150_5153dup (p.Asn1719LeufsTer14) c.5165_5168dup (p.Asn1724LeufsTer14) c.5075_5078dup (p.Asn1694LeufsTer14) c.5200_5203dup n.3363_3366dup c.5273_5276dup (p.Asn1760LeufsTer14) n.4094_4097dup n.2531_2534dup n.2502_2505dup n.2392_2395dup c.4934_4937dup (p.Asn1647LeufsTer14) c.*4446_*4449dup (n.*4446_*4449dup) c.4970_4973dup (p.Asn1659LeufsTer14) n.3002_3005dup c.1461_1464dup n.2394_2397dup c.5333_5336dup (p.Asn1780LeufsTer14) c.5330_5333dup (p.Asn1779LeufsTer14) c.5222_5225dup (p.Asn1743LeufsTer14) c.5201_5204dup (p.Asn1736LeufsTer14) c.4547_4550dup (p.Asn1518LeufsTer14) c.5495_5498dup (p.Asn1834LeufsTer14) c.5243_5246dup (p.Asn1750LeufsTer14) c.3989_3992dup (p.Asn1332LeufsTer14) | ClinVar |
16 | g.2088466del | CA2580091186 | TSC2 | c.*3629del (n.*3629del) c.5127del (p.Ser1710ProfsTer?) c.5277del (p.Ser1760ProfsTer?) c.*5793del (n.*5793del) c.*8029del (n.*8029del) c.5280del (p.Ser1761ProfsTer?) c.5211del (p.Ser1738ProfsTer?) c.5079del (p.Ser1694ProfsTer?) c.5112del (p.Ser1705ProfsTer?) c.1503del n.3162del c.3934del c.5139del (p.Ser1714ProfsTer?) n.877del c.5082del (p.Ser1695ProfsTer?) c.5148del (p.Ser1717ProfsTer?) c.5073del (p.Ser1692ProfsTer?) n.2928del c.5205del (p.Ser1736ProfsTer?) c.5151del (p.Ser1718ProfsTer?) c.5166del (p.Ser1723ProfsTer?) c.5076del (p.Ser1693ProfsTer?) c.5201del n.3364del c.5274del (p.Ser1759ProfsTer?) n.4095del n.2532del n.2503del n.2393del c.4935del (p.Ser1646ProfsTer?) c.*4447del (n.*4447del) c.4971del (p.Ser1658ProfsTer?) n.3003del c.1462del n.2395del c.5334del (p.Ser1779ProfsTer?) c.5331del (p.Ser1778ProfsTer?) c.5223del (p.Ser1742ProfsTer?) c.5202del (p.Ser1735ProfsTer?) c.4548del (p.Ser1517ProfsTer?) c.5496del (p.Ser1833ProfsTer?) c.5244del (p.Ser1749ProfsTer?) c.3990del (p.Ser1331ProfsTer?) | ClinVar |
16 | g.2088466C>A | CA394315198 | TSC2 | c.*3629C>A (n.*3629C>A) c.5127C>A (p.Tyr1709Ter) c.5277C>A (p.Tyr1759Ter) c.*5793C>A (n.*5793C>A) c.*8029C>A (n.*8029C>A) c.5280C>A (p.Tyr1760Ter) c.5211C>A (p.Tyr1737Ter) c.5079C>A (p.Tyr1693Ter) c.5112C>A (p.Tyr1704Ter) c.1503C>A n.3162C>A c.3934C>A c.5139C>A (p.Tyr1713Ter) n.877C>A c.5082C>A (p.Tyr1694Ter) c.5148C>A (p.Tyr1716Ter) c.5073C>A (p.Tyr1691Ter) n.2928C>A c.5205C>A (p.Tyr1735Ter) c.5151C>A (p.Tyr1717Ter) c.5166C>A (p.Tyr1722Ter) c.5076C>A (p.Tyr1692Ter) c.5201C>A n.3364C>A c.5274C>A (p.Tyr1758Ter) n.4095C>A n.2532C>A n.2503C>A n.2393C>A c.4935C>A (p.Tyr1645Ter) c.*4447C>A (n.*4447C>A) c.4971C>A (p.Tyr1657Ter) n.3003C>A c.1462C>A n.2395C>A c.5334C>A (p.Tyr1778Ter) c.5331C>A (p.Tyr1777Ter) c.5223C>A (p.Tyr1741Ter) c.5202C>A (p.Tyr1734Ter) c.4548C>A (p.Tyr1516Ter) c.5496C>A (p.Tyr1832Ter) c.5244C>A (p.Tyr1748Ter) c.3990C>A (p.Tyr1330Ter) | dbSNP |
16 | g.2088466C= | CA2202033430 | TSC2 | c.*3629C= (n.*3629C=) c.5127C= (p.Tyr1709=) c.5277C= (p.Tyr1759=) c.*5793C= (n.*5793C=) c.*8029C= (n.*8029C=) c.5280C= (p.Tyr1760=) c.5211C= (p.Tyr1737=) c.5079C= (p.Tyr1693=) c.5112C= (p.Tyr1704=) c.1503C= n.3162C= c.3934C= c.5139C= (p.Tyr1713=) n.877C= c.5082C= (p.Tyr1694=) c.5148C= (p.Tyr1716=) c.5073C= (p.Tyr1691=) n.2928C= c.5205C= (p.Tyr1735=) c.5151C= (p.Tyr1717=) c.5166C= (p.Tyr1722=) c.5076C= (p.Tyr1692=) c.5201C= n.3364C= c.5274C= (p.Tyr1758=) n.4095C= n.2532C= n.2503C= n.2393C= c.4935C= (p.Tyr1645=) c.*4447C= (n.*4447C=) c.4971C= (p.Tyr1657=) n.3003C= c.1462C= n.2395C= c.5334C= (p.Tyr1778=) c.5331C= (p.Tyr1777=) c.5223C= (p.Tyr1741=) c.5202C= (p.Tyr1734=) c.4548C= (p.Tyr1516=) c.5496C= (p.Tyr1832=) c.5244C= (p.Tyr1748=) c.3990C= (p.Tyr1330=) | |
16 | g.2088466C>G | CA394315185 | TSC2 | c.*3629C>G (n.*3629C>G) c.5127C>G (p.Tyr1709Ter) c.5277C>G (p.Tyr1759Ter) c.*5793C>G (n.*5793C>G) c.*8029C>G (n.*8029C>G) c.5280C>G (p.Tyr1760Ter) c.5211C>G (p.Tyr1737Ter) c.5079C>G (p.Tyr1693Ter) c.5112C>G (p.Tyr1704Ter) c.1503C>G n.3162C>G c.3934C>G c.5139C>G (p.Tyr1713Ter) n.877C>G c.5082C>G (p.Tyr1694Ter) c.5148C>G (p.Tyr1716Ter) c.5073C>G (p.Tyr1691Ter) n.2928C>G c.5205C>G (p.Tyr1735Ter) c.5151C>G (p.Tyr1717Ter) c.5166C>G (p.Tyr1722Ter) c.5076C>G (p.Tyr1692Ter) c.5201C>G n.3364C>G c.5274C>G (p.Tyr1758Ter) n.4095C>G n.2532C>G n.2503C>G n.2393C>G c.4935C>G (p.Tyr1645Ter) c.*4447C>G (n.*4447C>G) c.4971C>G (p.Tyr1657Ter) n.3003C>G c.1462C>G n.2395C>G c.5334C>G (p.Tyr1778Ter) c.5331C>G (p.Tyr1777Ter) c.5223C>G (p.Tyr1741Ter) c.5202C>G (p.Tyr1734Ter) c.4548C>G (p.Tyr1516Ter) c.5496C>G (p.Tyr1832Ter) c.5244C>G (p.Tyr1748Ter) c.3990C>G (p.Tyr1330Ter) | |
16 | g.2088466C>T | CA493043662 | TSC2 | c.*3629C>T (n.*3629C>T) c.5127C>T (p.Tyr1709=) c.5277C>T (p.Tyr1759=) c.*5793C>T (n.*5793C>T) c.*8029C>T (n.*8029C>T) c.5280C>T (p.Tyr1760=) c.5211C>T (p.Tyr1737=) c.5079C>T (p.Tyr1693=) c.5112C>T (p.Tyr1704=) c.1503C>T n.3162C>T c.3934C>T c.5139C>T (p.Tyr1713=) n.877C>T c.5082C>T (p.Tyr1694=) c.5148C>T (p.Tyr1716=) c.5073C>T (p.Tyr1691=) n.2928C>T c.5205C>T (p.Tyr1735=) c.5151C>T (p.Tyr1717=) c.5166C>T (p.Tyr1722=) c.5076C>T (p.Tyr1692=) c.5201C>T n.3364C>T c.5274C>T (p.Tyr1758=) n.4095C>T n.2532C>T n.2503C>T n.2393C>T c.4935C>T (p.Tyr1645=) c.*4447C>T (n.*4447C>T) c.4971C>T (p.Tyr1657=) n.3003C>T c.1462C>T n.2395C>T c.5334C>T (p.Tyr1778=) c.5331C>T (p.Tyr1777=) c.5223C>T (p.Tyr1741=) c.5202C>T (p.Tyr1734=) c.4548C>T (p.Tyr1516=) c.5496C>T (p.Tyr1832=) c.5244C>T (p.Tyr1748=) c.3990C>T (p.Tyr1330=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088467T>A | CA394315206 | TSC2 | c.*3630T>A (n.*3630T>A) c.5128T>A (p.Ser1710Thr) c.5278T>A (p.Ser1760Thr) c.*5794T>A (n.*5794T>A) c.*8030T>A (n.*8030T>A) c.5281T>A (p.Ser1761Thr) c.5212T>A (p.Ser1738Thr) c.5080T>A (p.Ser1694Thr) c.5113T>A (p.Ser1705Thr) c.1504T>A n.3163T>A c.3935T>A c.5140T>A (p.Ser1714Thr) n.878T>A c.5083T>A (p.Ser1695Thr) c.5149T>A (p.Ser1717Thr) c.5074T>A (p.Ser1692Thr) n.2929T>A c.5206T>A (p.Ser1736Thr) c.5152T>A (p.Ser1718Thr) c.5167T>A (p.Ser1723Thr) c.5077T>A (p.Ser1693Thr) c.5202T>A n.3365T>A c.5275T>A (p.Ser1759Thr) n.4096T>A n.2533T>A n.2504T>A n.2394T>A c.4936T>A (p.Ser1646Thr) c.*4448T>A (n.*4448T>A) c.4972T>A (p.Ser1658Thr) n.3004T>A c.1463T>A n.2396T>A c.5335T>A (p.Ser1779Thr) c.5332T>A (p.Ser1778Thr) c.5224T>A (p.Ser1742Thr) c.5203T>A (p.Ser1735Thr) c.4549T>A (p.Ser1517Thr) c.5497T>A (p.Ser1833Thr) c.5245T>A (p.Ser1749Thr) c.3991T>A (p.Ser1331Thr) | |
16 | g.2088467T>C | CA394315208 | TSC2 | c.*3630T>C (n.*3630T>C) c.5128T>C (p.Ser1710Pro) c.5278T>C (p.Ser1760Pro) c.*5794T>C (n.*5794T>C) c.*8030T>C (n.*8030T>C) c.5281T>C (p.Ser1761Pro) c.5212T>C (p.Ser1738Pro) c.5080T>C (p.Ser1694Pro) c.5113T>C (p.Ser1705Pro) c.1504T>C n.3163T>C c.3935T>C c.5140T>C (p.Ser1714Pro) n.878T>C c.5083T>C (p.Ser1695Pro) c.5149T>C (p.Ser1717Pro) c.5074T>C (p.Ser1692Pro) n.2929T>C c.5206T>C (p.Ser1736Pro) c.5152T>C (p.Ser1718Pro) c.5167T>C (p.Ser1723Pro) c.5077T>C (p.Ser1693Pro) c.5202T>C n.3365T>C c.5275T>C (p.Ser1759Pro) n.4096T>C n.2533T>C n.2504T>C n.2394T>C c.4936T>C (p.Ser1646Pro) c.*4448T>C (n.*4448T>C) c.4972T>C (p.Ser1658Pro) n.3004T>C c.1463T>C n.2396T>C c.5335T>C (p.Ser1779Pro) c.5332T>C (p.Ser1778Pro) c.5224T>C (p.Ser1742Pro) c.5203T>C (p.Ser1735Pro) c.4549T>C (p.Ser1517Pro) c.5497T>C (p.Ser1833Pro) c.5245T>C (p.Ser1749Pro) c.3991T>C (p.Ser1331Pro) | |
16 | g.2088467T>G | CA394315210 | TSC2 | c.*3630T>G (n.*3630T>G) c.5128T>G (p.Ser1710Ala) c.5278T>G (p.Ser1760Ala) c.*5794T>G (n.*5794T>G) c.*8030T>G (n.*8030T>G) c.5281T>G (p.Ser1761Ala) c.5212T>G (p.Ser1738Ala) c.5080T>G (p.Ser1694Ala) c.5113T>G (p.Ser1705Ala) c.1504T>G n.3163T>G c.3935T>G c.5140T>G (p.Ser1714Ala) n.878T>G c.5083T>G (p.Ser1695Ala) c.5149T>G (p.Ser1717Ala) c.5074T>G (p.Ser1692Ala) n.2929T>G c.5206T>G (p.Ser1736Ala) c.5152T>G (p.Ser1718Ala) c.5167T>G (p.Ser1723Ala) c.5077T>G (p.Ser1693Ala) c.5202T>G n.3365T>G c.5275T>G (p.Ser1759Ala) n.4096T>G n.2533T>G n.2504T>G n.2394T>G c.4936T>G (p.Ser1646Ala) c.*4448T>G (n.*4448T>G) c.4972T>G (p.Ser1658Ala) n.3004T>G c.1463T>G n.2396T>G c.5335T>G (p.Ser1779Ala) c.5332T>G (p.Ser1778Ala) c.5224T>G (p.Ser1742Ala) c.5203T>G (p.Ser1735Ala) c.4549T>G (p.Ser1517Ala) c.5497T>G (p.Ser1833Ala) c.5245T>G (p.Ser1749Ala) c.3991T>G (p.Ser1331Ala) | |
16 | g.2088468C>A | CA394315214 | TSC2 | c.*3631C>A (n.*3631C>A) c.5129C>A (p.Ser1710Tyr) c.5279C>A (p.Ser1760Tyr) c.*5795C>A (n.*5795C>A) c.*8031C>A (n.*8031C>A) c.5282C>A (p.Ser1761Tyr) c.5213C>A (p.Ser1738Tyr) c.5081C>A (p.Ser1694Tyr) c.5114C>A (p.Ser1705Tyr) c.1505C>A n.3164C>A c.3936C>A c.5141C>A (p.Ser1714Tyr) n.879C>A c.5084C>A (p.Ser1695Tyr) c.5150C>A (p.Ser1717Tyr) c.5075C>A (p.Ser1692Tyr) n.2930C>A c.5207C>A (p.Ser1736Tyr) c.5153C>A (p.Ser1718Tyr) c.5168C>A (p.Ser1723Tyr) c.5078C>A (p.Ser1693Tyr) c.5203C>A n.3366C>A c.5276C>A (p.Ser1759Tyr) n.4097C>A n.2534C>A n.2505C>A n.2395C>A c.4937C>A (p.Ser1646Tyr) c.*4449C>A (n.*4449C>A) c.4973C>A (p.Ser1658Tyr) n.3005C>A c.1464C>A n.2397C>A c.5336C>A (p.Ser1779Tyr) c.5333C>A (p.Ser1778Tyr) c.5225C>A (p.Ser1742Tyr) c.5204C>A (p.Ser1735Tyr) c.4550C>A (p.Ser1517Tyr) c.5498C>A (p.Ser1833Tyr) c.5246C>A (p.Ser1749Tyr) c.3992C>A (p.Ser1331Tyr) | ClinVar |
16 | g.2088468C>G | CA394315217 | TSC2 | c.*3631C>G (n.*3631C>G) c.5129C>G (p.Ser1710Cys) c.5279C>G (p.Ser1760Cys) c.*5795C>G (n.*5795C>G) c.*8031C>G (n.*8031C>G) c.5282C>G (p.Ser1761Cys) c.5213C>G (p.Ser1738Cys) c.5081C>G (p.Ser1694Cys) c.5114C>G (p.Ser1705Cys) c.1505C>G n.3164C>G c.3936C>G c.5141C>G (p.Ser1714Cys) n.879C>G c.5084C>G (p.Ser1695Cys) c.5150C>G (p.Ser1717Cys) c.5075C>G (p.Ser1692Cys) n.2930C>G c.5207C>G (p.Ser1736Cys) c.5153C>G (p.Ser1718Cys) c.5168C>G (p.Ser1723Cys) c.5078C>G (p.Ser1693Cys) c.5203C>G n.3366C>G c.5276C>G (p.Ser1759Cys) n.4097C>G n.2534C>G n.2505C>G n.2395C>G c.4937C>G (p.Ser1646Cys) c.*4449C>G (n.*4449C>G) c.4973C>G (p.Ser1658Cys) n.3005C>G c.1464C>G n.2397C>G c.5336C>G (p.Ser1779Cys) c.5333C>G (p.Ser1778Cys) c.5225C>G (p.Ser1742Cys) c.5204C>G (p.Ser1735Cys) c.4550C>G (p.Ser1517Cys) c.5498C>G (p.Ser1833Cys) c.5246C>G (p.Ser1749Cys) c.3992C>G (p.Ser1331Cys) | ClinVar gnomAD v4 |
16 | g.2088468C>T | CA394315220 | TSC2 | c.*3631C>T (n.*3631C>T) c.5129C>T (p.Ser1710Phe) c.5279C>T (p.Ser1760Phe) c.*5795C>T (n.*5795C>T) c.*8031C>T (n.*8031C>T) c.5282C>T (p.Ser1761Phe) c.5213C>T (p.Ser1738Phe) c.5081C>T (p.Ser1694Phe) c.5114C>T (p.Ser1705Phe) c.1505C>T n.3164C>T c.3936C>T c.5141C>T (p.Ser1714Phe) n.879C>T c.5084C>T (p.Ser1695Phe) c.5150C>T (p.Ser1717Phe) c.5075C>T (p.Ser1692Phe) n.2930C>T c.5207C>T (p.Ser1736Phe) c.5153C>T (p.Ser1718Phe) c.5168C>T (p.Ser1723Phe) c.5078C>T (p.Ser1693Phe) c.5203C>T n.3366C>T c.5276C>T (p.Ser1759Phe) n.4097C>T n.2534C>T n.2505C>T n.2395C>T c.4937C>T (p.Ser1646Phe) c.*4449C>T (n.*4449C>T) c.4973C>T (p.Ser1658Phe) n.3005C>T c.1464C>T n.2397C>T c.5336C>T (p.Ser1779Phe) c.5333C>T (p.Ser1778Phe) c.5225C>T (p.Ser1742Phe) c.5204C>T (p.Ser1735Phe) c.4550C>T (p.Ser1517Phe) c.5498C>T (p.Ser1833Phe) c.5246C>T (p.Ser1749Phe) c.3992C>T (p.Ser1331Phe) | dbSNP |
16 | g.2088469C>A | CA493043666 | TSC2 | c.*3632C>A (n.*3632C>A) c.5130C>A (p.Ser1710=) c.5280C>A (p.Ser1760=) c.*5796C>A (n.*5796C>A) c.*8032C>A (n.*8032C>A) c.5283C>A (p.Ser1761=) c.5214C>A (p.Ser1738=) c.5082C>A (p.Ser1694=) c.5115C>A (p.Ser1705=) c.1506C>A n.3165C>A c.3937C>A c.5142C>A (p.Ser1714=) n.880C>A c.5085C>A (p.Ser1695=) c.5151C>A (p.Ser1717=) c.5076C>A (p.Ser1692=) n.2931C>A c.5208C>A (p.Ser1736=) c.5154C>A (p.Ser1718=) c.5169C>A (p.Ser1723=) c.5079C>A (p.Ser1693=) c.5204C>A n.3367C>A c.5277C>A (p.Ser1759=) n.4098C>A n.2535C>A n.2506C>A n.2396C>A c.4938C>A (p.Ser1646=) c.*4450C>A (n.*4450C>A) c.4974C>A (p.Ser1658=) n.3006C>A c.1465C>A n.2398C>A c.5337C>A (p.Ser1779=) c.5334C>A (p.Ser1778=) c.5226C>A (p.Ser1742=) c.5205C>A (p.Ser1735=) c.4551C>A (p.Ser1517=) c.5499C>A (p.Ser1833=) c.5247C>A (p.Ser1749=) c.3993C>A (p.Ser1331=) | dbSNP |
16 | g.2088469C= | CA2202033438 | TSC2 | c.*3632C= (n.*3632C=) c.5130C= (p.Ser1710=) c.5280C= (p.Ser1760=) c.*5796C= (n.*5796C=) c.*8032C= (n.*8032C=) c.5283C= (p.Ser1761=) c.5214C= (p.Ser1738=) c.5082C= (p.Ser1694=) c.5115C= (p.Ser1705=) c.1506C= n.3165C= c.3937C= c.5142C= (p.Ser1714=) n.880C= c.5085C= (p.Ser1695=) c.5151C= (p.Ser1717=) c.5076C= (p.Ser1692=) n.2931C= c.5208C= (p.Ser1736=) c.5154C= (p.Ser1718=) c.5169C= (p.Ser1723=) c.5079C= (p.Ser1693=) c.5204C= n.3367C= c.5277C= (p.Ser1759=) n.4098C= n.2535C= n.2506C= n.2396C= c.4938C= (p.Ser1646=) c.*4450C= (n.*4450C=) c.4974C= (p.Ser1658=) n.3006C= c.1465C= n.2398C= c.5337C= (p.Ser1779=) c.5334C= (p.Ser1778=) c.5226C= (p.Ser1742=) c.5205C= (p.Ser1735=) c.4551C= (p.Ser1517=) c.5499C= (p.Ser1833=) c.5247C= (p.Ser1749=) c.3993C= (p.Ser1331=) | |
16 | g.2088469C>G | CA493043667 | TSC2 | c.*3632C>G (n.*3632C>G) c.5130C>G (p.Ser1710=) c.5280C>G (p.Ser1760=) c.*5796C>G (n.*5796C>G) c.*8032C>G (n.*8032C>G) c.5283C>G (p.Ser1761=) c.5214C>G (p.Ser1738=) c.5082C>G (p.Ser1694=) c.5115C>G (p.Ser1705=) c.1506C>G n.3165C>G c.3937C>G c.5142C>G (p.Ser1714=) n.880C>G c.5085C>G (p.Ser1695=) c.5151C>G (p.Ser1717=) c.5076C>G (p.Ser1692=) n.2931C>G c.5208C>G (p.Ser1736=) c.5154C>G (p.Ser1718=) c.5169C>G (p.Ser1723=) c.5079C>G (p.Ser1693=) c.5204C>G n.3367C>G c.5277C>G (p.Ser1759=) n.4098C>G n.2535C>G n.2506C>G n.2396C>G c.4938C>G (p.Ser1646=) c.*4450C>G (n.*4450C>G) c.4974C>G (p.Ser1658=) n.3006C>G c.1465C>G n.2398C>G c.5337C>G (p.Ser1779=) c.5334C>G (p.Ser1778=) c.5226C>G (p.Ser1742=) c.5205C>G (p.Ser1735=) c.4551C>G (p.Ser1517=) c.5499C>G (p.Ser1833=) c.5247C>G (p.Ser1749=) c.3993C>G (p.Ser1331=) | |
16 | g.2088469C>T | CA054945 | TSC2 | c.*3632C>T (n.*3632C>T) c.5130C>T (p.Ser1710=) c.5280C>T (p.Ser1760=) c.*5796C>T (n.*5796C>T) c.*8032C>T (n.*8032C>T) c.5283C>T (p.Ser1761=) c.5214C>T (p.Ser1738=) c.5082C>T (p.Ser1694=) c.5115C>T (p.Ser1705=) c.1506C>T n.3165C>T c.3937C>T c.5142C>T (p.Ser1714=) n.880C>T c.5085C>T (p.Ser1695=) c.5151C>T (p.Ser1717=) c.5076C>T (p.Ser1692=) n.2931C>T c.5208C>T (p.Ser1736=) c.5154C>T (p.Ser1718=) c.5169C>T (p.Ser1723=) c.5079C>T (p.Ser1693=) c.5204C>T n.3367C>T c.5277C>T (p.Ser1759=) n.4098C>T n.2535C>T n.2506C>T n.2396C>T c.4938C>T (p.Ser1646=) c.*4450C>T (n.*4450C>T) c.4974C>T (p.Ser1658=) n.3006C>T c.1465C>T n.2398C>T c.5337C>T (p.Ser1779=) c.5334C>T (p.Ser1778=) c.5226C>T (p.Ser1742=) c.5205C>T (p.Ser1735=) c.4551C>T (p.Ser1517=) c.5499C>T (p.Ser1833=) c.5247C>T (p.Ser1749=) c.3993C>T (p.Ser1331=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088469_2088470delinsCA | CA2202033436 | TSC2 | c.*3632_*3633delinsCA (n.*3632_*3633delinsCA) c.5130_5131delinsCA (p.Ser1710=) c.5280_5281delinsCA (p.Ser1760=) c.*5796_*5797delinsCA (n.*5796_*5797delinsCA) c.*8032_*8033delinsCA (n.*8032_*8033delinsCA) c.5283_5284delinsCA (p.Ser1761=) c.5214_5215delinsCA (p.Ser1738=) c.5082_5083delinsCA (p.Ser1694=) c.5115_5116delinsCA (p.Ser1705=) c.1506_1507delinsCA n.3165_3166delinsCA c.3937_3938delinsCA c.5142_5143delinsCA (p.Ser1714=) n.880_881delinsCA c.5085_5086delinsCA (p.Ser1695=) c.5151_5152delinsCA (p.Ser1717=) c.5076_5077delinsCA (p.Ser1692=) n.2931_2932delinsCA c.5208_5209delinsCA (p.Ser1736=) c.5154_5155delinsCA (p.Ser1718=) c.5169_5170delinsCA (p.Ser1723=) c.5079_5080delinsCA (p.Ser1693=) c.5204_5205delinsCA n.3367_3368delinsCA c.5277_5278delinsCA (p.Ser1759=) n.4098_4099delinsCA n.2535_2536delinsCA n.2506_2507delinsCA n.2396_2397delinsCA c.4938_4939delinsCA (p.Ser1646=) c.*4450_*4451delinsCA (n.*4450_*4451delinsCA) c.4974_4975delinsCA (p.Ser1658=) n.3006_3007delinsCA c.1465_1466delinsCA n.2398_2399delinsCA c.5337_5338delinsCA (p.Ser1779=) c.5334_5335delinsCA (p.Ser1778=) c.5226_5227delinsCA (p.Ser1742=) c.5205_5206delinsCA (p.Ser1735=) c.4551_4552delinsCA (p.Ser1517=) c.5499_5500delinsCA (p.Ser1833=) c.5247_5248delinsCA (p.Ser1749=) c.3993_3994delinsCA (p.Ser1331=) | |
16 | g.2088470A= | CA2202033448 | TSC2 | c.*3633A= (n.*3633A=) c.5131A= (p.Asn1711=) c.5281A= (p.Asn1761=) c.*5797A= (n.*5797A=) c.*8033A= (n.*8033A=) c.5284A= (p.Asn1762=) c.5215A= (p.Asn1739=) c.5083A= (p.Asn1695=) c.5116A= (p.Asn1706=) c.1507A= n.3166A= c.3938A= c.5143A= (p.Asn1715=) n.881A= c.5086A= (p.Asn1696=) c.5152A= (p.Asn1718=) c.5077A= (p.Asn1693=) n.2932A= c.5209A= (p.Asn1737=) c.5155A= (p.Asn1719=) c.5170A= (p.Asn1724=) c.5080A= (p.Asn1694=) c.5205A= n.3368A= c.5278A= (p.Asn1760=) n.4099A= n.2536A= n.2507A= n.2397A= c.4939A= (p.Asn1647=) c.*4451A= (n.*4451A=) c.4975A= (p.Asn1659=) n.3007A= c.1466A= n.2399A= c.5338A= (p.Asn1780=) c.5335A= (p.Asn1779=) c.5227A= (p.Asn1743=) c.5206A= (p.Asn1736=) c.4552A= (p.Asn1518=) c.5500A= (p.Asn1834=) c.5248A= (p.Asn1750=) c.3994A= (p.Asn1332=) | |
16 | g.2088470A>C | CA394315227 | TSC2 | c.*3633A>C (n.*3633A>C) c.5131A>C (p.Asn1711His) c.5281A>C (p.Asn1761His) c.*5797A>C (n.*5797A>C) c.*8033A>C (n.*8033A>C) c.5284A>C (p.Asn1762His) c.5215A>C (p.Asn1739His) c.5083A>C (p.Asn1695His) c.5116A>C (p.Asn1706His) c.1507A>C n.3166A>C c.3938A>C c.5143A>C (p.Asn1715His) n.881A>C c.5086A>C (p.Asn1696His) c.5152A>C (p.Asn1718His) c.5077A>C (p.Asn1693His) n.2932A>C c.5209A>C (p.Asn1737His) c.5155A>C (p.Asn1719His) c.5170A>C (p.Asn1724His) c.5080A>C (p.Asn1694His) c.5205A>C n.3368A>C c.5278A>C (p.Asn1760His) n.4099A>C n.2536A>C n.2507A>C n.2397A>C c.4939A>C (p.Asn1647His) c.*4451A>C (n.*4451A>C) c.4975A>C (p.Asn1659His) n.3007A>C c.1466A>C n.2399A>C c.5338A>C (p.Asn1780His) c.5335A>C (p.Asn1779His) c.5227A>C (p.Asn1743His) c.5206A>C (p.Asn1736His) c.4552A>C (p.Asn1518His) c.5500A>C (p.Asn1834His) c.5248A>C (p.Asn1750His) c.3994A>C (p.Asn1332His) | ClinVar gnomAD v4 |
16 | g.2088470A>G | CA394315233 | TSC2 | c.*3633A>G (n.*3633A>G) c.5131A>G (p.Asn1711Asp) c.5281A>G (p.Asn1761Asp) c.*5797A>G (n.*5797A>G) c.*8033A>G (n.*8033A>G) c.5284A>G (p.Asn1762Asp) c.5215A>G (p.Asn1739Asp) c.5083A>G (p.Asn1695Asp) c.5116A>G (p.Asn1706Asp) c.1507A>G n.3166A>G c.3938A>G c.5143A>G (p.Asn1715Asp) n.881A>G c.5086A>G (p.Asn1696Asp) c.5152A>G (p.Asn1718Asp) c.5077A>G (p.Asn1693Asp) n.2932A>G c.5209A>G (p.Asn1737Asp) c.5155A>G (p.Asn1719Asp) c.5170A>G (p.Asn1724Asp) c.5080A>G (p.Asn1694Asp) c.5205A>G n.3368A>G c.5278A>G (p.Asn1760Asp) n.4099A>G n.2536A>G n.2507A>G n.2397A>G c.4939A>G (p.Asn1647Asp) c.*4451A>G (n.*4451A>G) c.4975A>G (p.Asn1659Asp) n.3007A>G c.1466A>G n.2399A>G c.5338A>G (p.Asn1780Asp) c.5335A>G (p.Asn1779Asp) c.5227A>G (p.Asn1743Asp) c.5206A>G (p.Asn1736Asp) c.4552A>G (p.Asn1518Asp) c.5500A>G (p.Asn1834Asp) c.5248A>G (p.Asn1750Asp) c.3994A>G (p.Asn1332Asp) | ClinVar dbSNP |
16 | g.2088470A>T | CA394315231 | TSC2 | c.*3633A>T (n.*3633A>T) c.5131A>T (p.Asn1711Tyr) c.5281A>T (p.Asn1761Tyr) c.*5797A>T (n.*5797A>T) c.*8033A>T (n.*8033A>T) c.5284A>T (p.Asn1762Tyr) c.5215A>T (p.Asn1739Tyr) c.5083A>T (p.Asn1695Tyr) c.5116A>T (p.Asn1706Tyr) c.1507A>T n.3166A>T c.3938A>T c.5143A>T (p.Asn1715Tyr) n.881A>T c.5086A>T (p.Asn1696Tyr) c.5152A>T (p.Asn1718Tyr) c.5077A>T (p.Asn1693Tyr) n.2932A>T c.5209A>T (p.Asn1737Tyr) c.5155A>T (p.Asn1719Tyr) c.5170A>T (p.Asn1724Tyr) c.5080A>T (p.Asn1694Tyr) c.5205A>T n.3368A>T c.5278A>T (p.Asn1760Tyr) n.4099A>T n.2536A>T n.2507A>T n.2397A>T c.4939A>T (p.Asn1647Tyr) c.*4451A>T (n.*4451A>T) c.4975A>T (p.Asn1659Tyr) n.3007A>T c.1466A>T n.2399A>T c.5338A>T (p.Asn1780Tyr) c.5335A>T (p.Asn1779Tyr) c.5227A>T (p.Asn1743Tyr) c.5206A>T (p.Asn1736Tyr) c.4552A>T (p.Asn1518Tyr) c.5500A>T (p.Asn1834Tyr) c.5248A>T (p.Asn1750Tyr) c.3994A>T (p.Asn1332Tyr) | |
16 | g.2088471del | CA022362 | TSC2 | c.*3634del (n.*3634del) c.5132del (p.Asn1711ThrfsTer?) c.5282del (p.Asn1761ThrfsTer?) c.*5798del (n.*5798del) c.*8034del (n.*8034del) c.5285del (p.Asn1762ThrfsTer?) c.5216del (p.Asn1739ThrfsTer?) c.5084del (p.Asn1695ThrfsTer?) c.5117del (p.Asn1706ThrfsTer?) c.1508del n.3167del c.3939del c.5144del (p.Asn1715ThrfsTer?) n.882del c.5087del (p.Asn1696ThrfsTer?) c.5153del (p.Asn1718ThrfsTer?) c.5078del (p.Asn1693ThrfsTer?) n.2933del c.5210del (p.Asn1737ThrfsTer?) c.5156del (p.Asn1719ThrfsTer?) c.5171del (p.Asn1724ThrfsTer?) c.5081del (p.Asn1694ThrfsTer?) c.5206del n.3369del c.5279del (p.Asn1760ThrfsTer?) n.4100del n.2537del n.2508del n.2398del c.4940del (p.Asn1647ThrfsTer?) c.*4452del (n.*4452del) c.4976del (p.Asn1659ThrfsTer?) n.3008del c.1467del n.2400del c.5339del (p.Asn1780ThrfsTer?) c.5336del (p.Asn1779ThrfsTer?) c.5228del (p.Asn1743ThrfsTer?) c.5207del (p.Asn1736ThrfsTer?) c.4553del (p.Asn1518ThrfsTer?) c.5501del (p.Asn1834ThrfsTer?) c.5249del (p.Asn1750ThrfsTer?) c.3995del (p.Asn1332ThrfsTer?) | ClinVar dbSNP |
16 | g.2088471A= | CA2202033456 | TSC2 | c.*3634A= (n.*3634A=) c.5132A= (p.Asn1711=) c.5282A= (p.Asn1761=) c.*5798A= (n.*5798A=) c.*8034A= (n.*8034A=) c.5285A= (p.Asn1762=) c.5216A= (p.Asn1739=) c.5084A= (p.Asn1695=) c.5117A= (p.Asn1706=) c.1508A= n.3167A= c.3939A= c.5144A= (p.Asn1715=) n.882A= c.5087A= (p.Asn1696=) c.5153A= (p.Asn1718=) c.5078A= (p.Asn1693=) n.2933A= c.5210A= (p.Asn1737=) c.5156A= (p.Asn1719=) c.5171A= (p.Asn1724=) c.5081A= (p.Asn1694=) c.5206A= n.3369A= c.5279A= (p.Asn1760=) n.4100A= n.2537A= n.2508A= n.2398A= c.4940A= (p.Asn1647=) c.*4452A= (n.*4452A=) c.4976A= (p.Asn1659=) n.3008A= c.1467A= n.2400A= c.5339A= (p.Asn1780=) c.5336A= (p.Asn1779=) c.5228A= (p.Asn1743=) c.5207A= (p.Asn1736=) c.4553A= (p.Asn1518=) c.5501A= (p.Asn1834=) c.5249A= (p.Asn1750=) c.3995A= (p.Asn1332=) | |
16 | g.2088471A>C | CA394315238 | TSC2 | c.*3634A>C (n.*3634A>C) c.5132A>C (p.Asn1711Thr) c.5282A>C (p.Asn1761Thr) c.*5798A>C (n.*5798A>C) c.*8034A>C (n.*8034A>C) c.5285A>C (p.Asn1762Thr) c.5216A>C (p.Asn1739Thr) c.5084A>C (p.Asn1695Thr) c.5117A>C (p.Asn1706Thr) c.1508A>C n.3167A>C c.3939A>C c.5144A>C (p.Asn1715Thr) n.882A>C c.5087A>C (p.Asn1696Thr) c.5153A>C (p.Asn1718Thr) c.5078A>C (p.Asn1693Thr) n.2933A>C c.5210A>C (p.Asn1737Thr) c.5156A>C (p.Asn1719Thr) c.5171A>C (p.Asn1724Thr) c.5081A>C (p.Asn1694Thr) c.5206A>C n.3369A>C c.5279A>C (p.Asn1760Thr) n.4100A>C n.2537A>C n.2508A>C n.2398A>C c.4940A>C (p.Asn1647Thr) c.*4452A>C (n.*4452A>C) c.4976A>C (p.Asn1659Thr) n.3008A>C c.1467A>C n.2400A>C c.5339A>C (p.Asn1780Thr) c.5336A>C (p.Asn1779Thr) c.5228A>C (p.Asn1743Thr) c.5207A>C (p.Asn1736Thr) c.4553A>C (p.Asn1518Thr) c.5501A>C (p.Asn1834Thr) c.5249A>C (p.Asn1750Thr) c.3995A>C (p.Asn1332Thr) | |
16 | g.2088471A>G | CA394315241 | TSC2 | c.*3634A>G (n.*3634A>G) c.5132A>G (p.Asn1711Ser) c.5282A>G (p.Asn1761Ser) c.*5798A>G (n.*5798A>G) c.*8034A>G (n.*8034A>G) c.5285A>G (p.Asn1762Ser) c.5216A>G (p.Asn1739Ser) c.5084A>G (p.Asn1695Ser) c.5117A>G (p.Asn1706Ser) c.1508A>G n.3167A>G c.3939A>G c.5144A>G (p.Asn1715Ser) n.882A>G c.5087A>G (p.Asn1696Ser) c.5153A>G (p.Asn1718Ser) c.5078A>G (p.Asn1693Ser) n.2933A>G c.5210A>G (p.Asn1737Ser) c.5156A>G (p.Asn1719Ser) c.5171A>G (p.Asn1724Ser) c.5081A>G (p.Asn1694Ser) c.5206A>G n.3369A>G c.5279A>G (p.Asn1760Ser) n.4100A>G n.2537A>G n.2508A>G n.2398A>G c.4940A>G (p.Asn1647Ser) c.*4452A>G (n.*4452A>G) c.4976A>G (p.Asn1659Ser) n.3008A>G c.1467A>G n.2400A>G c.5339A>G (p.Asn1780Ser) c.5336A>G (p.Asn1779Ser) c.5228A>G (p.Asn1743Ser) c.5207A>G (p.Asn1736Ser) c.4553A>G (p.Asn1518Ser) c.5501A>G (p.Asn1834Ser) c.5249A>G (p.Asn1750Ser) c.3995A>G (p.Asn1332Ser) | dbSNP gnomAD v4 |
16 | g.2088471A>T | CA394315242 | TSC2 | c.*3634A>T (n.*3634A>T) c.5132A>T (p.Asn1711Ile) c.5282A>T (p.Asn1761Ile) c.*5798A>T (n.*5798A>T) c.*8034A>T (n.*8034A>T) c.5285A>T (p.Asn1762Ile) c.5216A>T (p.Asn1739Ile) c.5084A>T (p.Asn1695Ile) c.5117A>T (p.Asn1706Ile) c.1508A>T n.3167A>T c.3939A>T c.5144A>T (p.Asn1715Ile) n.882A>T c.5087A>T (p.Asn1696Ile) c.5153A>T (p.Asn1718Ile) c.5078A>T (p.Asn1693Ile) n.2933A>T c.5210A>T (p.Asn1737Ile) c.5156A>T (p.Asn1719Ile) c.5171A>T (p.Asn1724Ile) c.5081A>T (p.Asn1694Ile) c.5206A>T n.3369A>T c.5279A>T (p.Asn1760Ile) n.4100A>T n.2537A>T n.2508A>T n.2398A>T c.4940A>T (p.Asn1647Ile) c.*4452A>T (n.*4452A>T) c.4976A>T (p.Asn1659Ile) n.3008A>T c.1467A>T n.2400A>T c.5339A>T (p.Asn1780Ile) c.5336A>T (p.Asn1779Ile) c.5228A>T (p.Asn1743Ile) c.5207A>T (p.Asn1736Ile) c.4553A>T (p.Asn1518Ile) c.5501A>T (p.Asn1834Ile) c.5249A>T (p.Asn1750Ile) c.3995A>T (p.Asn1332Ile) | |
16 | g.2088471_2088472delinsAC | CA2202033459 | TSC2 | c.*3634_*3635delinsAC (n.*3634_*3635delinsAC) c.5132_5133delinsAC (p.Asn1711=) c.5282_5283delinsAC (p.Asn1761=) c.*5798_*5799delinsAC (n.*5798_*5799delinsAC) c.*8034_*8035delinsAC (n.*8034_*8035delinsAC) c.5285_5286delinsAC (p.Asn1762=) c.5216_5217delinsAC (p.Asn1739=) c.5084_5085delinsAC (p.Asn1695=) c.5117_5118delinsAC (p.Asn1706=) c.1508_1509delinsAC n.3167_3168delinsAC c.3939_3940delinsAC c.5144_5145delinsAC (p.Asn1715=) n.882_883delinsAC c.5087_5088delinsAC (p.Asn1696=) c.5153_5154delinsAC (p.Asn1718=) c.5078_5079delinsAC (p.Asn1693=) n.2933_2934delinsAC c.5210_5211delinsAC (p.Asn1737=) c.5156_5157delinsAC (p.Asn1719=) c.5171_5172delinsAC (p.Asn1724=) c.5081_5082delinsAC (p.Asn1694=) c.5206_5207delinsAC n.3369_3370delinsAC c.5279_5280delinsAC (p.Asn1760=) n.4100_4101delinsAC n.2537_2538delinsAC n.2508_2509delinsAC n.2398_2399delinsAC c.4940_4941delinsAC (p.Asn1647=) c.*4452_*4453delinsAC (n.*4452_*4453delinsAC) c.4976_4977delinsAC (p.Asn1659=) n.3008_3009delinsAC c.1467_1468delinsAC n.2400_2401delinsAC c.5339_5340delinsAC (p.Asn1780=) c.5336_5337delinsAC (p.Asn1779=) c.5228_5229delinsAC (p.Asn1743=) c.5207_5208delinsAC (p.Asn1736=) c.4553_4554delinsAC (p.Asn1518=) c.5501_5502delinsAC (p.Asn1834=) c.5249_5250delinsAC (p.Asn1750=) c.3995_3996delinsAC (p.Asn1332=) | |
16 | g.2088472C>A | CA394315247 | TSC2 | c.*3635C>A (n.*3635C>A) c.5133C>A (p.Asn1711Lys) c.5283C>A (p.Asn1761Lys) c.*5799C>A (n.*5799C>A) c.*8035C>A (n.*8035C>A) c.5286C>A (p.Asn1762Lys) c.5217C>A (p.Asn1739Lys) c.5085C>A (p.Asn1695Lys) c.5118C>A (p.Asn1706Lys) c.1509C>A n.3168C>A c.3940C>A c.5145C>A (p.Asn1715Lys) n.883C>A c.5088C>A (p.Asn1696Lys) c.5154C>A (p.Asn1718Lys) c.5079C>A (p.Asn1693Lys) n.2934C>A c.5211C>A (p.Asn1737Lys) c.5157C>A (p.Asn1719Lys) c.5172C>A (p.Asn1724Lys) c.5082C>A (p.Asn1694Lys) c.5207C>A n.3370C>A c.5280C>A (p.Asn1760Lys) n.4101C>A n.2538C>A n.2509C>A n.2399C>A c.4941C>A (p.Asn1647Lys) c.*4453C>A (n.*4453C>A) c.4977C>A (p.Asn1659Lys) n.3009C>A c.1468C>A n.2401C>A c.5340C>A (p.Asn1780Lys) c.5337C>A (p.Asn1779Lys) c.5229C>A (p.Asn1743Lys) c.5208C>A (p.Asn1736Lys) c.4554C>A (p.Asn1518Lys) c.5502C>A (p.Asn1834Lys) c.5250C>A (p.Asn1750Lys) c.3996C>A (p.Asn1332Lys) | ClinVar dbSNP |
16 | g.2088472C= | CA2202033469 | TSC2 | c.*3635C= (n.*3635C=) c.5133C= (p.Asn1711=) c.5283C= (p.Asn1761=) c.*5799C= (n.*5799C=) c.*8035C= (n.*8035C=) c.5286C= (p.Asn1762=) c.5217C= (p.Asn1739=) c.5085C= (p.Asn1695=) c.5118C= (p.Asn1706=) c.1509C= n.3168C= c.3940C= c.5145C= (p.Asn1715=) n.883C= c.5088C= (p.Asn1696=) c.5154C= (p.Asn1718=) c.5079C= (p.Asn1693=) n.2934C= c.5211C= (p.Asn1737=) c.5157C= (p.Asn1719=) c.5172C= (p.Asn1724=) c.5082C= (p.Asn1694=) c.5207C= n.3370C= c.5280C= (p.Asn1760=) n.4101C= n.2538C= n.2509C= n.2399C= c.4941C= (p.Asn1647=) c.*4453C= (n.*4453C=) c.4977C= (p.Asn1659=) n.3009C= c.1468C= n.2401C= c.5340C= (p.Asn1780=) c.5337C= (p.Asn1779=) c.5229C= (p.Asn1743=) c.5208C= (p.Asn1736=) c.4554C= (p.Asn1518=) c.5502C= (p.Asn1834=) c.5250C= (p.Asn1750=) c.3996C= (p.Asn1332=) | |
16 | g.2088472C>G | CA394315243 | TSC2 | c.*3635C>G (n.*3635C>G) c.5133C>G (p.Asn1711Lys) c.5283C>G (p.Asn1761Lys) c.*5799C>G (n.*5799C>G) c.*8035C>G (n.*8035C>G) c.5286C>G (p.Asn1762Lys) c.5217C>G (p.Asn1739Lys) c.5085C>G (p.Asn1695Lys) c.5118C>G (p.Asn1706Lys) c.1509C>G n.3168C>G c.3940C>G c.5145C>G (p.Asn1715Lys) n.883C>G c.5088C>G (p.Asn1696Lys) c.5154C>G (p.Asn1718Lys) c.5079C>G (p.Asn1693Lys) n.2934C>G c.5211C>G (p.Asn1737Lys) c.5157C>G (p.Asn1719Lys) c.5172C>G (p.Asn1724Lys) c.5082C>G (p.Asn1694Lys) c.5207C>G n.3370C>G c.5280C>G (p.Asn1760Lys) n.4101C>G n.2538C>G n.2509C>G n.2399C>G c.4941C>G (p.Asn1647Lys) c.*4453C>G (n.*4453C>G) c.4977C>G (p.Asn1659Lys) n.3009C>G c.1468C>G n.2401C>G c.5340C>G (p.Asn1780Lys) c.5337C>G (p.Asn1779Lys) c.5229C>G (p.Asn1743Lys) c.5208C>G (p.Asn1736Lys) c.4554C>G (p.Asn1518Lys) c.5502C>G (p.Asn1834Lys) c.5250C>G (p.Asn1750Lys) c.3996C>G (p.Asn1332Lys) | |
16 | g.2088472C>T | CA054947 | TSC2 | c.*3635C>T (n.*3635C>T) c.5133C>T (p.Asn1711=) c.5283C>T (p.Asn1761=) c.*5799C>T (n.*5799C>T) c.*8035C>T (n.*8035C>T) c.5286C>T (p.Asn1762=) c.5217C>T (p.Asn1739=) c.5085C>T (p.Asn1695=) c.5118C>T (p.Asn1706=) c.1509C>T n.3168C>T c.3940C>T c.5145C>T (p.Asn1715=) n.883C>T c.5088C>T (p.Asn1696=) c.5154C>T (p.Asn1718=) c.5079C>T (p.Asn1693=) n.2934C>T c.5211C>T (p.Asn1737=) c.5157C>T (p.Asn1719=) c.5172C>T (p.Asn1724=) c.5082C>T (p.Asn1694=) c.5207C>T n.3370C>T c.5280C>T (p.Asn1760=) n.4101C>T n.2538C>T n.2509C>T n.2399C>T c.4941C>T (p.Asn1647=) c.*4453C>T (n.*4453C>T) c.4977C>T (p.Asn1659=) n.3009C>T c.1468C>T n.2401C>T c.5340C>T (p.Asn1780=) c.5337C>T (p.Asn1779=) c.5229C>T (p.Asn1743=) c.5208C>T (p.Asn1736=) c.4554C>T (p.Asn1518=) c.5502C>T (p.Asn1834=) c.5250C>T (p.Asn1750=) c.3996C>T (p.Asn1332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088475del | CA658798503 | TSC2 | c.*3638del (n.*3638del) c.5136del (p.Ser1713AlafsTer?) c.5286del (p.Ser1763AlafsTer?) c.*5802del (n.*5802del) c.*8038del (n.*8038del) c.5289del (p.Ser1764AlafsTer?) c.5220del (p.Ser1741AlafsTer?) c.5088del (p.Ser1697AlafsTer?) c.5121del (p.Ser1708AlafsTer?) c.1512del n.3171del c.3943del c.5148del (p.Ser1717AlafsTer?) n.886del c.5091del (p.Ser1698AlafsTer?) c.5157del (p.Ser1720AlafsTer?) c.5082del (p.Ser1695AlafsTer?) n.2937del c.5214del (p.Ser1739AlafsTer?) c.5160del (p.Ser1721AlafsTer?) c.5175del (p.Ser1726AlafsTer?) c.5085del (p.Ser1696AlafsTer?) c.5210del n.3373del c.5283del (p.Ser1762AlafsTer?) n.4104del n.2541del n.2512del n.2402del c.4944del (p.Ser1649AlafsTer?) c.*4456del (n.*4456del) c.4980del (p.Ser1661AlafsTer?) n.3012del c.1471del n.2404del c.5343del (p.Ser1782AlafsTer?) c.5340del (p.Ser1781AlafsTer?) c.5232del (p.Ser1745AlafsTer?) c.5211del (p.Ser1738AlafsTer?) c.4557del (p.Ser1520AlafsTer?) c.5505del (p.Ser1836AlafsTer?) c.5253del (p.Ser1752AlafsTer?) c.3999del (p.Ser1334AlafsTer?) | ClinVar dbSNP |
16 | g.2088473C>A | CA394315249 | TSC2 | c.*3636C>A (n.*3636C>A) c.5134C>A (p.Pro1712Thr) c.5284C>A (p.Pro1762Thr) c.*5800C>A (n.*5800C>A) c.*8036C>A (n.*8036C>A) c.5287C>A (p.Pro1763Thr) c.5218C>A (p.Pro1740Thr) c.5086C>A (p.Pro1696Thr) c.5119C>A (p.Pro1707Thr) c.1510C>A n.3169C>A c.3941C>A c.5146C>A (p.Pro1716Thr) n.884C>A c.5089C>A (p.Pro1697Thr) c.5155C>A (p.Pro1719Thr) c.5080C>A (p.Pro1694Thr) n.2935C>A c.5212C>A (p.Pro1738Thr) c.5158C>A (p.Pro1720Thr) c.5173C>A (p.Pro1725Thr) c.5083C>A (p.Pro1695Thr) c.5208C>A n.3371C>A c.5281C>A (p.Pro1761Thr) n.4102C>A n.2539C>A n.2510C>A n.2400C>A c.4942C>A (p.Pro1648Thr) c.*4454C>A (n.*4454C>A) c.4978C>A (p.Pro1660Thr) n.3010C>A c.1469C>A n.2402C>A c.5341C>A (p.Pro1781Thr) c.5338C>A (p.Pro1780Thr) c.5230C>A (p.Pro1744Thr) c.5209C>A (p.Pro1737Thr) c.4555C>A (p.Pro1519Thr) c.5503C>A (p.Pro1835Thr) c.5251C>A (p.Pro1751Thr) c.3997C>A (p.Pro1333Thr) | gnomAD v4 |
16 | g.2088473C>G | CA394315252 | TSC2 | c.*3636C>G (n.*3636C>G) c.5134C>G (p.Pro1712Ala) c.5284C>G (p.Pro1762Ala) c.*5800C>G (n.*5800C>G) c.*8036C>G (n.*8036C>G) c.5287C>G (p.Pro1763Ala) c.5218C>G (p.Pro1740Ala) c.5086C>G (p.Pro1696Ala) c.5119C>G (p.Pro1707Ala) c.1510C>G n.3169C>G c.3941C>G c.5146C>G (p.Pro1716Ala) n.884C>G c.5089C>G (p.Pro1697Ala) c.5155C>G (p.Pro1719Ala) c.5080C>G (p.Pro1694Ala) n.2935C>G c.5212C>G (p.Pro1738Ala) c.5158C>G (p.Pro1720Ala) c.5173C>G (p.Pro1725Ala) c.5083C>G (p.Pro1695Ala) c.5208C>G n.3371C>G c.5281C>G (p.Pro1761Ala) n.4102C>G n.2539C>G n.2510C>G n.2400C>G c.4942C>G (p.Pro1648Ala) c.*4454C>G (n.*4454C>G) c.4978C>G (p.Pro1660Ala) n.3010C>G c.1469C>G n.2402C>G c.5341C>G (p.Pro1781Ala) c.5338C>G (p.Pro1780Ala) c.5230C>G (p.Pro1744Ala) c.5209C>G (p.Pro1737Ala) c.4555C>G (p.Pro1519Ala) c.5503C>G (p.Pro1835Ala) c.5251C>G (p.Pro1751Ala) c.3997C>G (p.Pro1333Ala) | |
16 | g.2088473C>T | CA394315254 | TSC2 | c.*3636C>T (n.*3636C>T) c.5134C>T (p.Pro1712Ser) c.5284C>T (p.Pro1762Ser) c.*5800C>T (n.*5800C>T) c.*8036C>T (n.*8036C>T) c.5287C>T (p.Pro1763Ser) c.5218C>T (p.Pro1740Ser) c.5086C>T (p.Pro1696Ser) c.5119C>T (p.Pro1707Ser) c.1510C>T n.3169C>T c.3941C>T c.5146C>T (p.Pro1716Ser) n.884C>T c.5089C>T (p.Pro1697Ser) c.5155C>T (p.Pro1719Ser) c.5080C>T (p.Pro1694Ser) n.2935C>T c.5212C>T (p.Pro1738Ser) c.5158C>T (p.Pro1720Ser) c.5173C>T (p.Pro1725Ser) c.5083C>T (p.Pro1695Ser) c.5208C>T n.3371C>T c.5281C>T (p.Pro1761Ser) n.4102C>T n.2539C>T n.2510C>T n.2400C>T c.4942C>T (p.Pro1648Ser) c.*4454C>T (n.*4454C>T) c.4978C>T (p.Pro1660Ser) n.3010C>T c.1469C>T n.2402C>T c.5341C>T (p.Pro1781Ser) c.5338C>T (p.Pro1780Ser) c.5230C>T (p.Pro1744Ser) c.5209C>T (p.Pro1737Ser) c.4555C>T (p.Pro1519Ser) c.5503C>T (p.Pro1835Ser) c.5251C>T (p.Pro1751Ser) c.3997C>T (p.Pro1333Ser) | ClinVar dbSNP |
16 | g.2088474C>A | CA394315260 | TSC2 | c.*3637C>A (n.*3637C>A) c.5135C>A (p.Pro1712His) c.5285C>A (p.Pro1762His) c.*5801C>A (n.*5801C>A) c.*8037C>A (n.*8037C>A) c.5288C>A (p.Pro1763His) c.5219C>A (p.Pro1740His) c.5087C>A (p.Pro1696His) c.5120C>A (p.Pro1707His) c.1511C>A n.3170C>A c.3942C>A c.5147C>A (p.Pro1716His) n.885C>A c.5090C>A (p.Pro1697His) c.5156C>A (p.Pro1719His) c.5081C>A (p.Pro1694His) n.2936C>A c.5213C>A (p.Pro1738His) c.5159C>A (p.Pro1720His) c.5174C>A (p.Pro1725His) c.5084C>A (p.Pro1695His) c.5209C>A n.3372C>A c.5282C>A (p.Pro1761His) n.4103C>A n.2540C>A n.2511C>A n.2401C>A c.4943C>A (p.Pro1648His) c.*4455C>A (n.*4455C>A) c.4979C>A (p.Pro1660His) n.3011C>A c.1470C>A n.2403C>A c.5342C>A (p.Pro1781His) c.5339C>A (p.Pro1780His) c.5231C>A (p.Pro1744His) c.5210C>A (p.Pro1737His) c.4556C>A (p.Pro1519His) c.5504C>A (p.Pro1835His) c.5252C>A (p.Pro1751His) c.3998C>A (p.Pro1333His) | dbSNP |
16 | g.2088474C= | CA2202033480 | TSC2 | c.*3637C= (n.*3637C=) c.5135C= (p.Pro1712=) c.5285C= (p.Pro1762=) c.*5801C= (n.*5801C=) c.*8037C= (n.*8037C=) c.5288C= (p.Pro1763=) c.5219C= (p.Pro1740=) c.5087C= (p.Pro1696=) c.5120C= (p.Pro1707=) c.1511C= n.3170C= c.3942C= c.5147C= (p.Pro1716=) n.885C= c.5090C= (p.Pro1697=) c.5156C= (p.Pro1719=) c.5081C= (p.Pro1694=) n.2936C= c.5213C= (p.Pro1738=) c.5159C= (p.Pro1720=) c.5174C= (p.Pro1725=) c.5084C= (p.Pro1695=) c.5209C= n.3372C= c.5282C= (p.Pro1761=) n.4103C= n.2540C= n.2511C= n.2401C= c.4943C= (p.Pro1648=) c.*4455C= (n.*4455C=) c.4979C= (p.Pro1660=) n.3011C= c.1470C= n.2403C= c.5342C= (p.Pro1781=) c.5339C= (p.Pro1780=) c.5231C= (p.Pro1744=) c.5210C= (p.Pro1737=) c.4556C= (p.Pro1519=) c.5504C= (p.Pro1835=) c.5252C= (p.Pro1751=) c.3998C= (p.Pro1333=) | |
16 | g.2088474C>G | CA16615206 | TSC2 | c.*3637C>G (n.*3637C>G) c.5135C>G (p.Pro1712Arg) c.5285C>G (p.Pro1762Arg) c.*5801C>G (n.*5801C>G) c.*8037C>G (n.*8037C>G) c.5288C>G (p.Pro1763Arg) c.5219C>G (p.Pro1740Arg) c.5087C>G (p.Pro1696Arg) c.5120C>G (p.Pro1707Arg) c.1511C>G n.3170C>G c.3942C>G c.5147C>G (p.Pro1716Arg) n.885C>G c.5090C>G (p.Pro1697Arg) c.5156C>G (p.Pro1719Arg) c.5081C>G (p.Pro1694Arg) n.2936C>G c.5213C>G (p.Pro1738Arg) c.5159C>G (p.Pro1720Arg) c.5174C>G (p.Pro1725Arg) c.5084C>G (p.Pro1695Arg) c.5209C>G n.3372C>G c.5282C>G (p.Pro1761Arg) n.4103C>G n.2540C>G n.2511C>G n.2401C>G c.4943C>G (p.Pro1648Arg) c.*4455C>G (n.*4455C>G) c.4979C>G (p.Pro1660Arg) n.3011C>G c.1470C>G n.2403C>G c.5342C>G (p.Pro1781Arg) c.5339C>G (p.Pro1780Arg) c.5231C>G (p.Pro1744Arg) c.5210C>G (p.Pro1737Arg) c.4556C>G (p.Pro1519Arg) c.5504C>G (p.Pro1835Arg) c.5252C>G (p.Pro1751Arg) c.3998C>G (p.Pro1333Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088474C>T | CA054957 | TSC2 | c.*3637C>T (n.*3637C>T) c.5135C>T (p.Pro1712Leu) c.5285C>T (p.Pro1762Leu) c.*5801C>T (n.*5801C>T) c.*8037C>T (n.*8037C>T) c.5288C>T (p.Pro1763Leu) c.5219C>T (p.Pro1740Leu) c.5087C>T (p.Pro1696Leu) c.5120C>T (p.Pro1707Leu) c.1511C>T n.3170C>T c.3942C>T c.5147C>T (p.Pro1716Leu) n.885C>T c.5090C>T (p.Pro1697Leu) c.5156C>T (p.Pro1719Leu) c.5081C>T (p.Pro1694Leu) n.2936C>T c.5213C>T (p.Pro1738Leu) c.5159C>T (p.Pro1720Leu) c.5174C>T (p.Pro1725Leu) c.5084C>T (p.Pro1695Leu) c.5209C>T n.3372C>T c.5282C>T (p.Pro1761Leu) n.4103C>T n.2540C>T n.2511C>T n.2401C>T c.4943C>T (p.Pro1648Leu) c.*4455C>T (n.*4455C>T) c.4979C>T (p.Pro1660Leu) n.3011C>T c.1470C>T n.2403C>T c.5342C>T (p.Pro1781Leu) c.5339C>T (p.Pro1780Leu) c.5231C>T (p.Pro1744Leu) c.5210C>T (p.Pro1737Leu) c.4556C>T (p.Pro1519Leu) c.5504C>T (p.Pro1835Leu) c.5252C>T (p.Pro1751Leu) c.3998C>T (p.Pro1333Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088475C>A | CA493043671 | TSC2 | c.*3638C>A (n.*3638C>A) c.5136C>A (p.Pro1712=) c.5286C>A (p.Pro1762=) c.*5802C>A (n.*5802C>A) c.*8038C>A (n.*8038C>A) c.5289C>A (p.Pro1763=) c.5220C>A (p.Pro1740=) c.5088C>A (p.Pro1696=) c.5121C>A (p.Pro1707=) c.1512C>A n.3171C>A c.3943C>A c.5148C>A (p.Pro1716=) n.886C>A c.5091C>A (p.Pro1697=) c.5157C>A (p.Pro1719=) c.5082C>A (p.Pro1694=) n.2937C>A c.5214C>A (p.Pro1738=) c.5160C>A (p.Pro1720=) c.5175C>A (p.Pro1725=) c.5085C>A (p.Pro1695=) c.5210C>A n.3373C>A c.5283C>A (p.Pro1761=) n.4104C>A n.2541C>A n.2512C>A n.2402C>A c.4944C>A (p.Pro1648=) c.*4456C>A (n.*4456C>A) c.4980C>A (p.Pro1660=) n.3012C>A c.1471C>A n.2404C>A c.5343C>A (p.Pro1781=) c.5340C>A (p.Pro1780=) c.5232C>A (p.Pro1744=) c.5211C>A (p.Pro1737=) c.4557C>A (p.Pro1519=) c.5505C>A (p.Pro1835=) c.5253C>A (p.Pro1751=) c.3999C>A (p.Pro1333=) | |
16 | g.2088475C= | CA2202033486 | TSC2 | c.*3638C= (n.*3638C=) c.5136C= (p.Pro1712=) c.5286C= (p.Pro1762=) c.*5802C= (n.*5802C=) c.*8038C= (n.*8038C=) c.5289C= (p.Pro1763=) c.5220C= (p.Pro1740=) c.5088C= (p.Pro1696=) c.5121C= (p.Pro1707=) c.1512C= n.3171C= c.3943C= c.5148C= (p.Pro1716=) n.886C= c.5091C= (p.Pro1697=) c.5157C= (p.Pro1719=) c.5082C= (p.Pro1694=) n.2937C= c.5214C= (p.Pro1738=) c.5160C= (p.Pro1720=) c.5175C= (p.Pro1725=) c.5085C= (p.Pro1695=) c.5210C= n.3373C= c.5283C= (p.Pro1761=) n.4104C= n.2541C= n.2512C= n.2402C= c.4944C= (p.Pro1648=) c.*4456C= (n.*4456C=) c.4980C= (p.Pro1660=) n.3012C= c.1471C= n.2404C= c.5343C= (p.Pro1781=) c.5340C= (p.Pro1780=) c.5232C= (p.Pro1744=) c.5211C= (p.Pro1737=) c.4557C= (p.Pro1519=) c.5505C= (p.Pro1835=) c.5253C= (p.Pro1751=) c.3999C= (p.Pro1333=) | |
16 | g.2088475C>G | CA493043670 | TSC2 | c.*3638C>G (n.*3638C>G) c.5136C>G (p.Pro1712=) c.5286C>G (p.Pro1762=) c.*5802C>G (n.*5802C>G) c.*8038C>G (n.*8038C>G) c.5289C>G (p.Pro1763=) c.5220C>G (p.Pro1740=) c.5088C>G (p.Pro1696=) c.5121C>G (p.Pro1707=) c.1512C>G n.3171C>G c.3943C>G c.5148C>G (p.Pro1716=) n.886C>G c.5091C>G (p.Pro1697=) c.5157C>G (p.Pro1719=) c.5082C>G (p.Pro1694=) n.2937C>G c.5214C>G (p.Pro1738=) c.5160C>G (p.Pro1720=) c.5175C>G (p.Pro1725=) c.5085C>G (p.Pro1695=) c.5210C>G n.3373C>G c.5283C>G (p.Pro1761=) n.4104C>G n.2541C>G n.2512C>G n.2402C>G c.4944C>G (p.Pro1648=) c.*4456C>G (n.*4456C>G) c.4980C>G (p.Pro1660=) n.3012C>G c.1471C>G n.2404C>G c.5343C>G (p.Pro1781=) c.5340C>G (p.Pro1780=) c.5232C>G (p.Pro1744=) c.5211C>G (p.Pro1737=) c.4557C>G (p.Pro1519=) c.5505C>G (p.Pro1835=) c.5253C>G (p.Pro1751=) c.3999C>G (p.Pro1333=) | |
16 | g.2088475C>T | CA054967 | TSC2 | c.*3638C>T (n.*3638C>T) c.5136C>T (p.Pro1712=) c.5286C>T (p.Pro1762=) c.*5802C>T (n.*5802C>T) c.*8038C>T (n.*8038C>T) c.5289C>T (p.Pro1763=) c.5220C>T (p.Pro1740=) c.5088C>T (p.Pro1696=) c.5121C>T (p.Pro1707=) c.1512C>T n.3171C>T c.3943C>T c.5148C>T (p.Pro1716=) n.886C>T c.5091C>T (p.Pro1697=) c.5157C>T (p.Pro1719=) c.5082C>T (p.Pro1694=) n.2937C>T c.5214C>T (p.Pro1738=) c.5160C>T (p.Pro1720=) c.5175C>T (p.Pro1725=) c.5085C>T (p.Pro1695=) c.5210C>T n.3373C>T c.5283C>T (p.Pro1761=) n.4104C>T n.2541C>T n.2512C>T n.2402C>T c.4944C>T (p.Pro1648=) c.*4456C>T (n.*4456C>T) c.4980C>T (p.Pro1660=) n.3012C>T c.1471C>T n.2404C>T c.5343C>T (p.Pro1781=) c.5340C>T (p.Pro1780=) c.5232C>T (p.Pro1744=) c.5211C>T (p.Pro1737=) c.4557C>T (p.Pro1519=) c.5505C>T (p.Pro1835=) c.5253C>T (p.Pro1751=) c.3999C>T (p.Pro1333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088476A>C | CA394315268 | TSC2 | c.*3639A>C (n.*3639A>C) c.5137A>C (p.Ser1713Arg) c.5287A>C (p.Ser1763Arg) c.*5803A>C (n.*5803A>C) c.*8039A>C (n.*8039A>C) c.5290A>C (p.Ser1764Arg) c.5221A>C (p.Ser1741Arg) c.5089A>C (p.Ser1697Arg) c.5122A>C (p.Ser1708Arg) c.1513A>C n.3172A>C c.3944A>C c.5149A>C (p.Ser1717Arg) n.887A>C c.5092A>C (p.Ser1698Arg) c.5158A>C (p.Ser1720Arg) c.5083A>C (p.Ser1695Arg) n.2938A>C c.5215A>C (p.Ser1739Arg) c.5161A>C (p.Ser1721Arg) c.5176A>C (p.Ser1726Arg) c.5086A>C (p.Ser1696Arg) c.5211A>C n.3374A>C c.5284A>C (p.Ser1762Arg) n.4105A>C n.2542A>C n.2513A>C n.2403A>C c.4945A>C (p.Ser1649Arg) c.*4457A>C (n.*4457A>C) c.4981A>C (p.Ser1661Arg) n.3013A>C c.1472A>C n.2405A>C c.5344A>C (p.Ser1782Arg) c.5341A>C (p.Ser1781Arg) c.5233A>C (p.Ser1745Arg) c.5212A>C (p.Ser1738Arg) c.4558A>C (p.Ser1520Arg) c.5506A>C (p.Ser1836Arg) c.5254A>C (p.Ser1752Arg) c.4000A>C (p.Ser1334Arg) | ClinVar |
16 | g.2088476A>G | CA394315271 | TSC2 | c.*3639A>G (n.*3639A>G) c.5137A>G (p.Ser1713Gly) c.5287A>G (p.Ser1763Gly) c.*5803A>G (n.*5803A>G) c.*8039A>G (n.*8039A>G) c.5290A>G (p.Ser1764Gly) c.5221A>G (p.Ser1741Gly) c.5089A>G (p.Ser1697Gly) c.5122A>G (p.Ser1708Gly) c.1513A>G n.3172A>G c.3944A>G c.5149A>G (p.Ser1717Gly) n.887A>G c.5092A>G (p.Ser1698Gly) c.5158A>G (p.Ser1720Gly) c.5083A>G (p.Ser1695Gly) n.2938A>G c.5215A>G (p.Ser1739Gly) c.5161A>G (p.Ser1721Gly) c.5176A>G (p.Ser1726Gly) c.5086A>G (p.Ser1696Gly) c.5211A>G n.3374A>G c.5284A>G (p.Ser1762Gly) n.4105A>G n.2542A>G n.2513A>G n.2403A>G c.4945A>G (p.Ser1649Gly) c.*4457A>G (n.*4457A>G) c.4981A>G (p.Ser1661Gly) n.3013A>G c.1472A>G n.2405A>G c.5344A>G (p.Ser1782Gly) c.5341A>G (p.Ser1781Gly) c.5233A>G (p.Ser1745Gly) c.5212A>G (p.Ser1738Gly) c.4558A>G (p.Ser1520Gly) c.5506A>G (p.Ser1836Gly) c.5254A>G (p.Ser1752Gly) c.4000A>G (p.Ser1334Gly) | |
16 | g.2088476A>T | CA394315272 | TSC2 | c.*3639A>T (n.*3639A>T) c.5137A>T (p.Ser1713Cys) c.5287A>T (p.Ser1763Cys) c.*5803A>T (n.*5803A>T) c.*8039A>T (n.*8039A>T) c.5290A>T (p.Ser1764Cys) c.5221A>T (p.Ser1741Cys) c.5089A>T (p.Ser1697Cys) c.5122A>T (p.Ser1708Cys) c.1513A>T n.3172A>T c.3944A>T c.5149A>T (p.Ser1717Cys) n.887A>T c.5092A>T (p.Ser1698Cys) c.5158A>T (p.Ser1720Cys) c.5083A>T (p.Ser1695Cys) n.2938A>T c.5215A>T (p.Ser1739Cys) c.5161A>T (p.Ser1721Cys) c.5176A>T (p.Ser1726Cys) c.5086A>T (p.Ser1696Cys) c.5211A>T n.3374A>T c.5284A>T (p.Ser1762Cys) n.4105A>T n.2542A>T n.2513A>T n.2403A>T c.4945A>T (p.Ser1649Cys) c.*4457A>T (n.*4457A>T) c.4981A>T (p.Ser1661Cys) n.3013A>T c.1472A>T n.2405A>T c.5344A>T (p.Ser1782Cys) c.5341A>T (p.Ser1781Cys) c.5233A>T (p.Ser1745Cys) c.5212A>T (p.Ser1738Cys) c.4558A>T (p.Ser1520Cys) c.5506A>T (p.Ser1836Cys) c.5254A>T (p.Ser1752Cys) c.4000A>T (p.Ser1334Cys) | dbSNP |
16 | g.2088477G>A | CA276759923 | TSC2 | c.*3640G>A (n.*3640G>A) c.5138G>A (p.Ser1713Asn) c.5288G>A (p.Ser1763Asn) c.*5804G>A (n.*5804G>A) c.*8040G>A (n.*8040G>A) c.5291G>A (p.Ser1764Asn) c.5222G>A (p.Ser1741Asn) c.5090G>A (p.Ser1697Asn) c.5123G>A (p.Ser1708Asn) c.1514G>A n.3173G>A c.3945G>A c.5150G>A (p.Ser1717Asn) n.888G>A c.5093G>A (p.Ser1698Asn) c.5159G>A (p.Ser1720Asn) c.5084G>A (p.Ser1695Asn) n.2939G>A c.5216G>A (p.Ser1739Asn) c.5162G>A (p.Ser1721Asn) c.5177G>A (p.Ser1726Asn) c.5087G>A (p.Ser1696Asn) c.5212G>A n.3375G>A c.5285G>A (p.Ser1762Asn) n.4106G>A n.2543G>A n.2514G>A n.2404G>A c.4946G>A (p.Ser1649Asn) c.*4458G>A (n.*4458G>A) c.4982G>A (p.Ser1661Asn) n.3014G>A c.1473G>A n.2406G>A c.5345G>A (p.Ser1782Asn) c.5342G>A (p.Ser1781Asn) c.5234G>A (p.Ser1745Asn) c.5213G>A (p.Ser1738Asn) c.4559G>A (p.Ser1520Asn) c.5507G>A (p.Ser1836Asn) c.5255G>A (p.Ser1752Asn) c.4001G>A (p.Ser1334Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088477G>C | CA394315277 | TSC2 | c.*3640G>C (n.*3640G>C) c.5138G>C (p.Ser1713Thr) c.5288G>C (p.Ser1763Thr) c.*5804G>C (n.*5804G>C) c.*8040G>C (n.*8040G>C) c.5291G>C (p.Ser1764Thr) c.5222G>C (p.Ser1741Thr) c.5090G>C (p.Ser1697Thr) c.5123G>C (p.Ser1708Thr) c.1514G>C n.3173G>C c.3945G>C c.5150G>C (p.Ser1717Thr) n.888G>C c.5093G>C (p.Ser1698Thr) c.5159G>C (p.Ser1720Thr) c.5084G>C (p.Ser1695Thr) n.2939G>C c.5216G>C (p.Ser1739Thr) c.5162G>C (p.Ser1721Thr) c.5177G>C (p.Ser1726Thr) c.5087G>C (p.Ser1696Thr) c.5212G>C n.3375G>C c.5285G>C (p.Ser1762Thr) n.4106G>C n.2543G>C n.2514G>C n.2404G>C c.4946G>C (p.Ser1649Thr) c.*4458G>C (n.*4458G>C) c.4982G>C (p.Ser1661Thr) n.3014G>C c.1473G>C n.2406G>C c.5345G>C (p.Ser1782Thr) c.5342G>C (p.Ser1781Thr) c.5234G>C (p.Ser1745Thr) c.5213G>C (p.Ser1738Thr) c.4559G>C (p.Ser1520Thr) c.5507G>C (p.Ser1836Thr) c.5255G>C (p.Ser1752Thr) c.4001G>C (p.Ser1334Thr) | ClinVar dbSNP gnomAD v4 |
16 | g.2088477G= | CA2202033505 | TSC2 | c.*3640G= (n.*3640G=) c.5138G= (p.Ser1713=) c.5288G= (p.Ser1763=) c.*5804G= (n.*5804G=) c.*8040G= (n.*8040G=) c.5291G= (p.Ser1764=) c.5222G= (p.Ser1741=) c.5090G= (p.Ser1697=) c.5123G= (p.Ser1708=) c.1514G= n.3173G= c.3945G= c.5150G= (p.Ser1717=) n.888G= c.5093G= (p.Ser1698=) c.5159G= (p.Ser1720=) c.5084G= (p.Ser1695=) n.2939G= c.5216G= (p.Ser1739=) c.5162G= (p.Ser1721=) c.5177G= (p.Ser1726=) c.5087G= (p.Ser1696=) c.5212G= n.3375G= c.5285G= (p.Ser1762=) n.4106G= n.2543G= n.2514G= n.2404G= c.4946G= (p.Ser1649=) c.*4458G= (n.*4458G=) c.4982G= (p.Ser1661=) n.3014G= c.1473G= n.2406G= c.5345G= (p.Ser1782=) c.5342G= (p.Ser1781=) c.5234G= (p.Ser1745=) c.5213G= (p.Ser1738=) c.4559G= (p.Ser1520=) c.5507G= (p.Ser1836=) c.5255G= (p.Ser1752=) c.4001G= (p.Ser1334=) | |
16 | g.2088477G>T | CA394315279 | TSC2 | c.*3640G>T (n.*3640G>T) c.5138G>T (p.Ser1713Ile) c.5288G>T (p.Ser1763Ile) c.*5804G>T (n.*5804G>T) c.*8040G>T (n.*8040G>T) c.5291G>T (p.Ser1764Ile) c.5222G>T (p.Ser1741Ile) c.5090G>T (p.Ser1697Ile) c.5123G>T (p.Ser1708Ile) c.1514G>T n.3173G>T c.3945G>T c.5150G>T (p.Ser1717Ile) n.888G>T c.5093G>T (p.Ser1698Ile) c.5159G>T (p.Ser1720Ile) c.5084G>T (p.Ser1695Ile) n.2939G>T c.5216G>T (p.Ser1739Ile) c.5162G>T (p.Ser1721Ile) c.5177G>T (p.Ser1726Ile) c.5087G>T (p.Ser1696Ile) c.5212G>T n.3375G>T c.5285G>T (p.Ser1762Ile) n.4106G>T n.2543G>T n.2514G>T n.2404G>T c.4946G>T (p.Ser1649Ile) c.*4458G>T (n.*4458G>T) c.4982G>T (p.Ser1661Ile) n.3014G>T c.1473G>T n.2406G>T c.5345G>T (p.Ser1782Ile) c.5342G>T (p.Ser1781Ile) c.5234G>T (p.Ser1745Ile) c.5213G>T (p.Ser1738Ile) c.4559G>T (p.Ser1520Ile) c.5507G>T (p.Ser1836Ile) c.5255G>T (p.Ser1752Ile) c.4001G>T (p.Ser1334Ile) | |
16 | g.2088478C>A | CA394315281 | TSC2 | c.*3641C>A (n.*3641C>A) c.5139C>A (p.Ser1713Arg) c.5289C>A (p.Ser1763Arg) c.*5805C>A (n.*5805C>A) c.*8041C>A (n.*8041C>A) c.5292C>A (p.Ser1764Arg) c.5223C>A (p.Ser1741Arg) c.5091C>A (p.Ser1697Arg) c.5124C>A (p.Ser1708Arg) c.1515C>A n.3174C>A c.3946C>A c.5151C>A (p.Ser1717Arg) n.889C>A c.5094C>A (p.Ser1698Arg) c.5160C>A (p.Ser1720Arg) c.5085C>A (p.Ser1695Arg) n.2940C>A c.5217C>A (p.Ser1739Arg) c.5163C>A (p.Ser1721Arg) c.5178C>A (p.Ser1726Arg) c.5088C>A (p.Ser1696Arg) c.5213C>A n.3376C>A c.5286C>A (p.Ser1762Arg) n.4107C>A n.2544C>A n.2515C>A n.2405C>A c.4947C>A (p.Ser1649Arg) c.*4459C>A (n.*4459C>A) c.4983C>A (p.Ser1661Arg) n.3015C>A c.1474C>A n.2407C>A c.5346C>A (p.Ser1782Arg) c.5343C>A (p.Ser1781Arg) c.5235C>A (p.Ser1745Arg) c.5214C>A (p.Ser1738Arg) c.4560C>A (p.Ser1520Arg) c.5508C>A (p.Ser1836Arg) c.5256C>A (p.Ser1752Arg) c.4002C>A (p.Ser1334Arg) | dbSNP gnomAD v4 |
16 | g.2088478C= | CA2202033516 | TSC2 | c.*3641C= (n.*3641C=) c.5139C= (p.Ser1713=) c.5289C= (p.Ser1763=) c.*5805C= (n.*5805C=) c.*8041C= (n.*8041C=) c.5292C= (p.Ser1764=) c.5223C= (p.Ser1741=) c.5091C= (p.Ser1697=) c.5124C= (p.Ser1708=) c.1515C= n.3174C= c.3946C= c.5151C= (p.Ser1717=) n.889C= c.5094C= (p.Ser1698=) c.5160C= (p.Ser1720=) c.5085C= (p.Ser1695=) n.2940C= c.5217C= (p.Ser1739=) c.5163C= (p.Ser1721=) c.5178C= (p.Ser1726=) c.5088C= (p.Ser1696=) c.5213C= n.3376C= c.5286C= (p.Ser1762=) n.4107C= n.2544C= n.2515C= n.2405C= c.4947C= (p.Ser1649=) c.*4459C= (n.*4459C=) c.4983C= (p.Ser1661=) n.3015C= c.1474C= n.2407C= c.5346C= (p.Ser1782=) c.5343C= (p.Ser1781=) c.5235C= (p.Ser1745=) c.5214C= (p.Ser1738=) c.4560C= (p.Ser1520=) c.5508C= (p.Ser1836=) c.5256C= (p.Ser1752=) c.4002C= (p.Ser1334=) | |
16 | g.2088478C>G | CA394315285 | TSC2 | c.*3641C>G (n.*3641C>G) c.5139C>G (p.Ser1713Arg) c.5289C>G (p.Ser1763Arg) c.*5805C>G (n.*5805C>G) c.*8041C>G (n.*8041C>G) c.5292C>G (p.Ser1764Arg) c.5223C>G (p.Ser1741Arg) c.5091C>G (p.Ser1697Arg) c.5124C>G (p.Ser1708Arg) c.1515C>G n.3174C>G c.3946C>G c.5151C>G (p.Ser1717Arg) n.889C>G c.5094C>G (p.Ser1698Arg) c.5160C>G (p.Ser1720Arg) c.5085C>G (p.Ser1695Arg) n.2940C>G c.5217C>G (p.Ser1739Arg) c.5163C>G (p.Ser1721Arg) c.5178C>G (p.Ser1726Arg) c.5088C>G (p.Ser1696Arg) c.5213C>G n.3376C>G c.5286C>G (p.Ser1762Arg) n.4107C>G n.2544C>G n.2515C>G n.2405C>G c.4947C>G (p.Ser1649Arg) c.*4459C>G (n.*4459C>G) c.4983C>G (p.Ser1661Arg) n.3015C>G c.1474C>G n.2407C>G c.5346C>G (p.Ser1782Arg) c.5343C>G (p.Ser1781Arg) c.5235C>G (p.Ser1745Arg) c.5214C>G (p.Ser1738Arg) c.4560C>G (p.Ser1520Arg) c.5508C>G (p.Ser1836Arg) c.5256C>G (p.Ser1752Arg) c.4002C>G (p.Ser1334Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088478C>T | CA054978 | TSC2 | c.*3641C>T (n.*3641C>T) c.5139C>T (p.Ser1713=) c.5289C>T (p.Ser1763=) c.*5805C>T (n.*5805C>T) c.*8041C>T (n.*8041C>T) c.5292C>T (p.Ser1764=) c.5223C>T (p.Ser1741=) c.5091C>T (p.Ser1697=) c.5124C>T (p.Ser1708=) c.1515C>T n.3174C>T c.3946C>T c.5151C>T (p.Ser1717=) n.889C>T c.5094C>T (p.Ser1698=) c.5160C>T (p.Ser1720=) c.5085C>T (p.Ser1695=) n.2940C>T c.5217C>T (p.Ser1739=) c.5163C>T (p.Ser1721=) c.5178C>T (p.Ser1726=) c.5088C>T (p.Ser1696=) c.5213C>T n.3376C>T c.5286C>T (p.Ser1762=) n.4107C>T n.2544C>T n.2515C>T n.2405C>T c.4947C>T (p.Ser1649=) c.*4459C>T (n.*4459C>T) c.4983C>T (p.Ser1661=) n.3015C>T c.1474C>T n.2407C>T c.5346C>T (p.Ser1782=) c.5343C>T (p.Ser1781=) c.5235C>T (p.Ser1745=) c.5214C>T (p.Ser1738=) c.4560C>T (p.Ser1520=) c.5508C>T (p.Ser1836=) c.5256C>T (p.Ser1752=) c.4002C>T (p.Ser1334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088481_2088496dup | CA2805573952 | TSC2 | c.*3644_*3659dup (n.*3644_*3659dup) c.5142_5157dup (p.Pro1720ThrfsTer9) c.5292_5307dup (p.Pro1770ThrfsTer9) c.*5808_*5823dup (n.*5808_*5823dup) c.*8044_*8059dup (n.*8044_*8059dup) c.5295_5310dup (p.Pro1771ThrfsTer9) c.5226_5241dup (p.Pro1748ThrfsTer9) c.5094_5109dup (p.Pro1704ThrfsTer9) c.5127_5142dup (p.Pro1715ThrfsTer9) c.1518_1533dup n.3177_3192dup c.3949_3964dup c.5154_5169dup (p.Pro1724ThrfsTer9) n.892_907dup c.5097_5112dup (p.Pro1705ThrfsTer9) c.5163_5178dup (p.Pro1727ThrfsTer9) c.5088_5103dup (p.Pro1702ThrfsTer9) n.2943_2958dup c.5220_5235dup (p.Pro1746ThrfsTer9) c.5166_5181dup (p.Pro1728ThrfsTer9) c.5181_5196dup (p.Pro1733ThrfsTer9) c.5091_5106dup (p.Pro1703ThrfsTer9) c.5216_5231dup n.3379_3394dup c.5289_5304dup (p.Pro1769ThrfsTer9) n.4110_4125dup n.2547_2562dup n.2518_2533dup n.2408_2423dup c.4950_4965dup (p.Pro1656ThrfsTer9) c.*4462_*4477dup (n.*4462_*4477dup) c.4986_5001dup (p.Pro1668ThrfsTer9) n.3018_3033dup c.1477_1492dup n.2410_2425dup c.5349_5364dup (p.Pro1789ThrfsTer9) c.5346_5361dup (p.Pro1788ThrfsTer9) c.5238_5253dup (p.Pro1752ThrfsTer9) c.5217_5232dup (p.Pro1745ThrfsTer9) c.4563_4578dup (p.Pro1527ThrfsTer9) c.5511_5526dup (p.Pro1843ThrfsTer9) c.5259_5274dup (p.Pro1759ThrfsTer9) c.4005_4020dup (p.Pro1341ThrfsTer9) | |
16 | g.2088479C>A | CA394315286 | TSC2 | c.*3642C>A (n.*3642C>A) c.5140C>A (p.Leu1714Ile) c.5290C>A (p.Leu1764Ile) c.*5806C>A (n.*5806C>A) c.*8042C>A (n.*8042C>A) c.5293C>A (p.Leu1765Ile) c.5224C>A (p.Leu1742Ile) c.5092C>A (p.Leu1698Ile) c.5125C>A (p.Leu1709Ile) c.1516C>A n.3175C>A c.3947C>A c.5152C>A (p.Leu1718Ile) n.890C>A c.5095C>A (p.Leu1699Ile) c.5161C>A (p.Leu1721Ile) c.5086C>A (p.Leu1696Ile) n.2941C>A c.5218C>A (p.Leu1740Ile) c.5164C>A (p.Leu1722Ile) c.5179C>A (p.Leu1727Ile) c.5089C>A (p.Leu1697Ile) c.5214C>A n.3377C>A c.5287C>A (p.Leu1763Ile) n.4108C>A n.2545C>A n.2516C>A n.2406C>A c.4948C>A (p.Leu1650Ile) c.*4460C>A (n.*4460C>A) c.4984C>A (p.Leu1662Ile) n.3016C>A c.1475C>A n.2408C>A c.5347C>A (p.Leu1783Ile) c.5344C>A (p.Leu1782Ile) c.5236C>A (p.Leu1746Ile) c.5215C>A (p.Leu1739Ile) c.4561C>A (p.Leu1521Ile) c.5509C>A (p.Leu1837Ile) c.5257C>A (p.Leu1753Ile) c.4003C>A (p.Leu1335Ile) | ClinVar dbSNP |
16 | g.2088479C= | CA2202033544 | TSC2 | c.*3642C= (n.*3642C=) c.5140C= (p.Leu1714=) c.5290C= (p.Leu1764=) c.*5806C= (n.*5806C=) c.*8042C= (n.*8042C=) c.5293C= (p.Leu1765=) c.5224C= (p.Leu1742=) c.5092C= (p.Leu1698=) c.5125C= (p.Leu1709=) c.1516C= n.3175C= c.3947C= c.5152C= (p.Leu1718=) n.890C= c.5095C= (p.Leu1699=) c.5161C= (p.Leu1721=) c.5086C= (p.Leu1696=) n.2941C= c.5218C= (p.Leu1740=) c.5164C= (p.Leu1722=) c.5179C= (p.Leu1727=) c.5089C= (p.Leu1697=) c.5214C= n.3377C= c.5287C= (p.Leu1763=) n.4108C= n.2545C= n.2516C= n.2406C= c.4948C= (p.Leu1650=) c.*4460C= (n.*4460C=) c.4984C= (p.Leu1662=) n.3016C= c.1475C= n.2408C= c.5347C= (p.Leu1783=) c.5344C= (p.Leu1782=) c.5236C= (p.Leu1746=) c.5215C= (p.Leu1739=) c.4561C= (p.Leu1521=) c.5509C= (p.Leu1837=) c.5257C= (p.Leu1753=) c.4003C= (p.Leu1335=) | |
16 | g.2088479C>G | CA16615207 | TSC2 | c.*3642C>G (n.*3642C>G) c.5140C>G (p.Leu1714Val) c.5290C>G (p.Leu1764Val) c.*5806C>G (n.*5806C>G) c.*8042C>G (n.*8042C>G) c.5293C>G (p.Leu1765Val) c.5224C>G (p.Leu1742Val) c.5092C>G (p.Leu1698Val) c.5125C>G (p.Leu1709Val) c.1516C>G n.3175C>G c.3947C>G c.5152C>G (p.Leu1718Val) n.890C>G c.5095C>G (p.Leu1699Val) c.5161C>G (p.Leu1721Val) c.5086C>G (p.Leu1696Val) n.2941C>G c.5218C>G (p.Leu1740Val) c.5164C>G (p.Leu1722Val) c.5179C>G (p.Leu1727Val) c.5089C>G (p.Leu1697Val) c.5214C>G n.3377C>G c.5287C>G (p.Leu1763Val) n.4108C>G n.2545C>G n.2516C>G n.2406C>G c.4948C>G (p.Leu1650Val) c.*4460C>G (n.*4460C>G) c.4984C>G (p.Leu1662Val) n.3016C>G c.1475C>G n.2408C>G c.5347C>G (p.Leu1783Val) c.5344C>G (p.Leu1782Val) c.5236C>G (p.Leu1746Val) c.5215C>G (p.Leu1739Val) c.4561C>G (p.Leu1521Val) c.5509C>G (p.Leu1837Val) c.5257C>G (p.Leu1753Val) c.4003C>G (p.Leu1335Val) | ClinVar dbSNP |
16 | g.2088479C>T | CA493043675 | TSC2 | c.*3642C>T (n.*3642C>T) c.5140C>T (p.Leu1714=) c.5290C>T (p.Leu1764=) c.*5806C>T (n.*5806C>T) c.*8042C>T (n.*8042C>T) c.5293C>T (p.Leu1765=) c.5224C>T (p.Leu1742=) c.5092C>T (p.Leu1698=) c.5125C>T (p.Leu1709=) c.1516C>T n.3175C>T c.3947C>T c.5152C>T (p.Leu1718=) n.890C>T c.5095C>T (p.Leu1699=) c.5161C>T (p.Leu1721=) c.5086C>T (p.Leu1696=) n.2941C>T c.5218C>T (p.Leu1740=) c.5164C>T (p.Leu1722=) c.5179C>T (p.Leu1727=) c.5089C>T (p.Leu1697=) c.5214C>T n.3377C>T c.5287C>T (p.Leu1763=) n.4108C>T n.2545C>T n.2516C>T n.2406C>T c.4948C>T (p.Leu1650=) c.*4460C>T (n.*4460C>T) c.4984C>T (p.Leu1662=) n.3016C>T c.1475C>T n.2408C>T c.5347C>T (p.Leu1783=) c.5344C>T (p.Leu1782=) c.5236C>T (p.Leu1746=) c.5215C>T (p.Leu1739=) c.4561C>T (p.Leu1521=) c.5509C>T (p.Leu1837=) c.5257C>T (p.Leu1753=) c.4003C>T (p.Leu1335=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088480_2088482dup | CA2573151989 | TSC2 | c.*3643_*3645dup (n.*3643_*3645dup) c.5141_5143dup (p.Leu1714_Pro1715insLeu) c.5291_5293dup (p.Leu1764_Pro1765insLeu) c.*5807_*5809dup (n.*5807_*5809dup) c.*8043_*8045dup (n.*8043_*8045dup) c.5294_5296dup (p.Leu1765_Pro1766insLeu) c.5225_5227dup (p.Leu1742_Pro1743insLeu) c.5093_5095dup (p.Leu1698_Pro1699insLeu) c.5126_5128dup (p.Leu1709_Pro1710insLeu) c.1517_1519dup n.3176_3178dup c.3948_3950dup c.5153_5155dup (p.Leu1718_Pro1719insLeu) n.891_893dup c.5096_5098dup (p.Leu1699_Pro1700insLeu) c.5162_5164dup (p.Leu1721_Pro1722insLeu) c.5087_5089dup (p.Leu1696_Pro1697insLeu) n.2942_2944dup c.5219_5221dup (p.Leu1740_Pro1741insLeu) c.5165_5167dup (p.Leu1722_Pro1723insLeu) c.5180_5182dup (p.Leu1727_Pro1728insLeu) c.5090_5092dup (p.Leu1697_Pro1698insLeu) c.5215_5217dup n.3378_3380dup c.5288_5290dup (p.Leu1763_Pro1764insLeu) n.4109_4111dup n.2546_2548dup n.2517_2519dup n.2407_2409dup c.4949_4951dup (p.Leu1650_Pro1651insLeu) c.*4461_*4463dup (n.*4461_*4463dup) c.4985_4987dup (p.Leu1662_Pro1663insLeu) n.3017_3019dup c.1476_1478dup n.2409_2411dup c.5348_5350dup (p.Leu1783_Pro1784insLeu) c.5345_5347dup (p.Leu1782_Pro1783insLeu) c.5237_5239dup (p.Leu1746_Pro1747insLeu) c.5216_5218dup (p.Leu1739_Pro1740insLeu) c.4562_4564dup (p.Leu1521_Pro1522insLeu) c.5510_5512dup (p.Leu1837_Pro1838insLeu) c.5258_5260dup (p.Leu1753_Pro1754insLeu) c.4004_4006dup (p.Leu1335_Pro1336insLeu) | ClinVar dbSNP |
16 | g.2088480T>A | CA394315290 | TSC2 | c.*3643T>A (n.*3643T>A) c.5141T>A (p.Leu1714Gln) c.5291T>A (p.Leu1764Gln) c.*5807T>A (n.*5807T>A) c.*8043T>A (n.*8043T>A) c.5294T>A (p.Leu1765Gln) c.5225T>A (p.Leu1742Gln) c.5093T>A (p.Leu1698Gln) c.5126T>A (p.Leu1709Gln) c.1517T>A n.3176T>A c.3948T>A c.5153T>A (p.Leu1718Gln) n.891T>A c.5096T>A (p.Leu1699Gln) c.5162T>A (p.Leu1721Gln) c.5087T>A (p.Leu1696Gln) n.2942T>A c.5219T>A (p.Leu1740Gln) c.5165T>A (p.Leu1722Gln) c.5180T>A (p.Leu1727Gln) c.5090T>A (p.Leu1697Gln) c.5215T>A n.3378T>A c.5288T>A (p.Leu1763Gln) n.4109T>A n.2546T>A n.2517T>A n.2407T>A c.4949T>A (p.Leu1650Gln) c.*4461T>A (n.*4461T>A) c.4985T>A (p.Leu1662Gln) n.3017T>A c.1476T>A n.2409T>A c.5348T>A (p.Leu1783Gln) c.5345T>A (p.Leu1782Gln) c.5237T>A (p.Leu1746Gln) c.5216T>A (p.Leu1739Gln) c.4562T>A (p.Leu1521Gln) c.5510T>A (p.Leu1837Gln) c.5258T>A (p.Leu1753Gln) c.4004T>A (p.Leu1335Gln) | |
16 | g.2088480T>C | CA394315295 | TSC2 | c.*3643T>C (n.*3643T>C) c.5141T>C (p.Leu1714Pro) c.5291T>C (p.Leu1764Pro) c.*5807T>C (n.*5807T>C) c.*8043T>C (n.*8043T>C) c.5294T>C (p.Leu1765Pro) c.5225T>C (p.Leu1742Pro) c.5093T>C (p.Leu1698Pro) c.5126T>C (p.Leu1709Pro) c.1517T>C n.3176T>C c.3948T>C c.5153T>C (p.Leu1718Pro) n.891T>C c.5096T>C (p.Leu1699Pro) c.5162T>C (p.Leu1721Pro) c.5087T>C (p.Leu1696Pro) n.2942T>C c.5219T>C (p.Leu1740Pro) c.5165T>C (p.Leu1722Pro) c.5180T>C (p.Leu1727Pro) c.5090T>C (p.Leu1697Pro) c.5215T>C n.3378T>C c.5288T>C (p.Leu1763Pro) n.4109T>C n.2546T>C n.2517T>C n.2407T>C c.4949T>C (p.Leu1650Pro) c.*4461T>C (n.*4461T>C) c.4985T>C (p.Leu1662Pro) n.3017T>C c.1476T>C n.2409T>C c.5348T>C (p.Leu1783Pro) c.5345T>C (p.Leu1782Pro) c.5237T>C (p.Leu1746Pro) c.5216T>C (p.Leu1739Pro) c.4562T>C (p.Leu1521Pro) c.5510T>C (p.Leu1837Pro) c.5258T>C (p.Leu1753Pro) c.4004T>C (p.Leu1335Pro) | ClinVar dbSNP |
16 | g.2088480T>G | CA394315297 | TSC2 | c.*3643T>G (n.*3643T>G) c.5141T>G (p.Leu1714Arg) c.5291T>G (p.Leu1764Arg) c.*5807T>G (n.*5807T>G) c.*8043T>G (n.*8043T>G) c.5294T>G (p.Leu1765Arg) c.5225T>G (p.Leu1742Arg) c.5093T>G (p.Leu1698Arg) c.5126T>G (p.Leu1709Arg) c.1517T>G n.3176T>G c.3948T>G c.5153T>G (p.Leu1718Arg) n.891T>G c.5096T>G (p.Leu1699Arg) c.5162T>G (p.Leu1721Arg) c.5087T>G (p.Leu1696Arg) n.2942T>G c.5219T>G (p.Leu1740Arg) c.5165T>G (p.Leu1722Arg) c.5180T>G (p.Leu1727Arg) c.5090T>G (p.Leu1697Arg) c.5215T>G n.3378T>G c.5288T>G (p.Leu1763Arg) n.4109T>G n.2546T>G n.2517T>G n.2407T>G c.4949T>G (p.Leu1650Arg) c.*4461T>G (n.*4461T>G) c.4985T>G (p.Leu1662Arg) n.3017T>G c.1476T>G n.2409T>G c.5348T>G (p.Leu1783Arg) c.5345T>G (p.Leu1782Arg) c.5237T>G (p.Leu1746Arg) c.5216T>G (p.Leu1739Arg) c.4562T>G (p.Leu1521Arg) c.5510T>G (p.Leu1837Arg) c.5258T>G (p.Leu1753Arg) c.4004T>G (p.Leu1335Arg) | |
16 | g.2088481A>C | CA493043676 | TSC2 | c.*3644A>C (n.*3644A>C) c.5142A>C (p.Leu1714=) c.5292A>C (p.Leu1764=) c.*5808A>C (n.*5808A>C) c.*8044A>C (n.*8044A>C) c.5295A>C (p.Leu1765=) c.5226A>C (p.Leu1742=) c.5094A>C (p.Leu1698=) c.5127A>C (p.Leu1709=) c.1518A>C n.3177A>C c.3949A>C c.5154A>C (p.Leu1718=) n.892A>C c.5097A>C (p.Leu1699=) c.5163A>C (p.Leu1721=) c.5088A>C (p.Leu1696=) n.2943A>C c.5220A>C (p.Leu1740=) c.5166A>C (p.Leu1722=) c.5181A>C (p.Leu1727=) c.5091A>C (p.Leu1697=) c.5216A>C n.3379A>C c.5289A>C (p.Leu1763=) n.4110A>C n.2547A>C n.2518A>C n.2408A>C c.4950A>C (p.Leu1650=) c.*4462A>C (n.*4462A>C) c.4986A>C (p.Leu1662=) n.3018A>C c.1477A>C n.2410A>C c.5349A>C (p.Leu1783=) c.5346A>C (p.Leu1782=) c.5238A>C (p.Leu1746=) c.5217A>C (p.Leu1739=) c.4563A>C (p.Leu1521=) c.5511A>C (p.Leu1837=) c.5259A>C (p.Leu1753=) c.4005A>C (p.Leu1335=) | ClinVar |
16 | g.2088481A>G | CA493043678 | TSC2 | c.*3644A>G (n.*3644A>G) c.5142A>G (p.Leu1714=) c.5292A>G (p.Leu1764=) c.*5808A>G (n.*5808A>G) c.*8044A>G (n.*8044A>G) c.5295A>G (p.Leu1765=) c.5226A>G (p.Leu1742=) c.5094A>G (p.Leu1698=) c.5127A>G (p.Leu1709=) c.1518A>G n.3177A>G c.3949A>G c.5154A>G (p.Leu1718=) n.892A>G c.5097A>G (p.Leu1699=) c.5163A>G (p.Leu1721=) c.5088A>G (p.Leu1696=) n.2943A>G c.5220A>G (p.Leu1740=) c.5166A>G (p.Leu1722=) c.5181A>G (p.Leu1727=) c.5091A>G (p.Leu1697=) c.5216A>G n.3379A>G c.5289A>G (p.Leu1763=) n.4110A>G n.2547A>G n.2518A>G n.2408A>G c.4950A>G (p.Leu1650=) c.*4462A>G (n.*4462A>G) c.4986A>G (p.Leu1662=) n.3018A>G c.1477A>G n.2410A>G c.5349A>G (p.Leu1783=) c.5346A>G (p.Leu1782=) c.5238A>G (p.Leu1746=) c.5217A>G (p.Leu1739=) c.4563A>G (p.Leu1521=) c.5511A>G (p.Leu1837=) c.5259A>G (p.Leu1753=) c.4005A>G (p.Leu1335=) | ClinVar dbSNP |
16 | g.2088481A>T | CA493043680 | TSC2 | c.*3644A>T (n.*3644A>T) c.5142A>T (p.Leu1714=) c.5292A>T (p.Leu1764=) c.*5808A>T (n.*5808A>T) c.*8044A>T (n.*8044A>T) c.5295A>T (p.Leu1765=) c.5226A>T (p.Leu1742=) c.5094A>T (p.Leu1698=) c.5127A>T (p.Leu1709=) c.1518A>T n.3177A>T c.3949A>T c.5154A>T (p.Leu1718=) n.892A>T c.5097A>T (p.Leu1699=) c.5163A>T (p.Leu1721=) c.5088A>T (p.Leu1696=) n.2943A>T c.5220A>T (p.Leu1740=) c.5166A>T (p.Leu1722=) c.5181A>T (p.Leu1727=) c.5091A>T (p.Leu1697=) c.5216A>T n.3379A>T c.5289A>T (p.Leu1763=) n.4110A>T n.2547A>T n.2518A>T n.2408A>T c.4950A>T (p.Leu1650=) c.*4462A>T (n.*4462A>T) c.4986A>T (p.Leu1662=) n.3018A>T c.1477A>T n.2410A>T c.5349A>T (p.Leu1783=) c.5346A>T (p.Leu1782=) c.5238A>T (p.Leu1746=) c.5217A>T (p.Leu1739=) c.4563A>T (p.Leu1521=) c.5511A>T (p.Leu1837=) c.5259A>T (p.Leu1753=) c.4005A>T (p.Leu1335=) | |
16 | g.2088481_2088483dup | CA2631119456 | TSC2 | c.*3644_*3646dup (n.*3644_*3646dup) c.5142_5144dup (p.Pro1715_Leu1716insPro) c.5292_5294dup (p.Pro1765_Leu1766insPro) c.*5808_*5810dup (n.*5808_*5810dup) c.*8044_*8046dup (n.*8044_*8046dup) c.5295_5297dup (p.Pro1766_Leu1767insPro) c.5226_5228dup (p.Pro1743_Leu1744insPro) c.5094_5096dup (p.Pro1699_Leu1700insPro) c.5127_5129dup (p.Pro1710_Leu1711insPro) c.1518_1520dup n.3177_3179dup c.3949_3951dup c.5154_5156dup (p.Pro1719_Leu1720insPro) n.892_894dup c.5097_5099dup (p.Pro1700_Leu1701insPro) c.5163_5165dup (p.Pro1722_Leu1723insPro) c.5088_5090dup (p.Pro1697_Leu1698insPro) n.2943_2945dup c.5220_5222dup (p.Pro1741_Leu1742insPro) c.5166_5168dup (p.Pro1723_Leu1724insPro) c.5181_5183dup (p.Pro1728_Leu1729insPro) c.5091_5093dup (p.Pro1698_Leu1699insPro) c.5216_5218dup n.3379_3381dup c.5289_5291dup (p.Pro1764_Leu1765insPro) n.4110_4112dup n.2547_2549dup n.2518_2520dup n.2408_2410dup c.4950_4952dup (p.Pro1651_Leu1652insPro) c.*4462_*4464dup (n.*4462_*4464dup) c.4986_4988dup (p.Pro1663_Leu1664insPro) n.3018_3020dup c.1477_1479dup n.2410_2412dup c.5349_5351dup (p.Pro1784_Leu1785insPro) c.5346_5348dup (p.Pro1783_Leu1784insPro) c.5238_5240dup (p.Pro1747_Leu1748insPro) c.5217_5219dup (p.Pro1740_Leu1741insPro) c.4563_4565dup (p.Pro1522_Leu1523insPro) c.5511_5513dup (p.Pro1838_Leu1839insPro) c.5259_5261dup (p.Pro1754_Leu1755insPro) c.4005_4007dup (p.Pro1336_Leu1337insPro) | gnomAD v4 |
16 | g.2088482C>A | CA394315303 | TSC2 | c.*3645C>A (n.*3645C>A) c.5143C>A (p.Pro1715Thr) c.5293C>A (p.Pro1765Thr) c.*5809C>A (n.*5809C>A) c.*8045C>A (n.*8045C>A) c.5296C>A (p.Pro1766Thr) c.5227C>A (p.Pro1743Thr) c.5095C>A (p.Pro1699Thr) c.5128C>A (p.Pro1710Thr) c.1519C>A n.3178C>A c.3950C>A c.5155C>A (p.Pro1719Thr) n.893C>A c.5098C>A (p.Pro1700Thr) c.5164C>A (p.Pro1722Thr) c.5089C>A (p.Pro1697Thr) n.2944C>A c.5221C>A (p.Pro1741Thr) c.5167C>A (p.Pro1723Thr) c.5182C>A (p.Pro1728Thr) c.5092C>A (p.Pro1698Thr) c.5217C>A n.3380C>A c.5290C>A (p.Pro1764Thr) n.4111C>A n.2548C>A n.2519C>A n.2409C>A c.4951C>A (p.Pro1651Thr) c.*4463C>A (n.*4463C>A) c.4987C>A (p.Pro1663Thr) n.3019C>A c.1478C>A n.2411C>A c.5350C>A (p.Pro1784Thr) c.5347C>A (p.Pro1783Thr) c.5239C>A (p.Pro1747Thr) c.5218C>A (p.Pro1740Thr) c.4564C>A (p.Pro1522Thr) c.5512C>A (p.Pro1838Thr) c.5260C>A (p.Pro1754Thr) c.4006C>A (p.Pro1336Thr) | |
16 | g.2088482C= | CA2202033581 | TSC2 | c.*3645C= (n.*3645C=) c.5143C= (p.Pro1715=) c.5293C= (p.Pro1765=) c.*5809C= (n.*5809C=) c.*8045C= (n.*8045C=) c.5296C= (p.Pro1766=) c.5227C= (p.Pro1743=) c.5095C= (p.Pro1699=) c.5128C= (p.Pro1710=) c.1519C= n.3178C= c.3950C= c.5155C= (p.Pro1719=) n.893C= c.5098C= (p.Pro1700=) c.5164C= (p.Pro1722=) c.5089C= (p.Pro1697=) n.2944C= c.5221C= (p.Pro1741=) c.5167C= (p.Pro1723=) c.5182C= (p.Pro1728=) c.5092C= (p.Pro1698=) c.5217C= n.3380C= c.5290C= (p.Pro1764=) n.4111C= n.2548C= n.2519C= n.2409C= c.4951C= (p.Pro1651=) c.*4463C= (n.*4463C=) c.4987C= (p.Pro1663=) n.3019C= c.1478C= n.2411C= c.5350C= (p.Pro1784=) c.5347C= (p.Pro1783=) c.5239C= (p.Pro1747=) c.5218C= (p.Pro1740=) c.4564C= (p.Pro1522=) c.5512C= (p.Pro1838=) c.5260C= (p.Pro1754=) c.4006C= (p.Pro1336=) | |
16 | g.2088482C>G | CA394315305 | TSC2 | c.*3645C>G (n.*3645C>G) c.5143C>G (p.Pro1715Ala) c.5293C>G (p.Pro1765Ala) c.*5809C>G (n.*5809C>G) c.*8045C>G (n.*8045C>G) c.5296C>G (p.Pro1766Ala) c.5227C>G (p.Pro1743Ala) c.5095C>G (p.Pro1699Ala) c.5128C>G (p.Pro1710Ala) c.1519C>G n.3178C>G c.3950C>G c.5155C>G (p.Pro1719Ala) n.893C>G c.5098C>G (p.Pro1700Ala) c.5164C>G (p.Pro1722Ala) c.5089C>G (p.Pro1697Ala) n.2944C>G c.5221C>G (p.Pro1741Ala) c.5167C>G (p.Pro1723Ala) c.5182C>G (p.Pro1728Ala) c.5092C>G (p.Pro1698Ala) c.5217C>G n.3380C>G c.5290C>G (p.Pro1764Ala) n.4111C>G n.2548C>G n.2519C>G n.2409C>G c.4951C>G (p.Pro1651Ala) c.*4463C>G (n.*4463C>G) c.4987C>G (p.Pro1663Ala) n.3019C>G c.1478C>G n.2411C>G c.5350C>G (p.Pro1784Ala) c.5347C>G (p.Pro1783Ala) c.5239C>G (p.Pro1747Ala) c.5218C>G (p.Pro1740Ala) c.4564C>G (p.Pro1522Ala) c.5512C>G (p.Pro1838Ala) c.5260C>G (p.Pro1754Ala) c.4006C>G (p.Pro1336Ala) | |
16 | g.2088482C>T | CA054989 | TSC2 | c.*3645C>T (n.*3645C>T) c.5143C>T (p.Pro1715Ser) c.5293C>T (p.Pro1765Ser) c.*5809C>T (n.*5809C>T) c.*8045C>T (n.*8045C>T) c.5296C>T (p.Pro1766Ser) c.5227C>T (p.Pro1743Ser) c.5095C>T (p.Pro1699Ser) c.5128C>T (p.Pro1710Ser) c.1519C>T n.3178C>T c.3950C>T c.5155C>T (p.Pro1719Ser) n.893C>T c.5098C>T (p.Pro1700Ser) c.5164C>T (p.Pro1722Ser) c.5089C>T (p.Pro1697Ser) n.2944C>T c.5221C>T (p.Pro1741Ser) c.5167C>T (p.Pro1723Ser) c.5182C>T (p.Pro1728Ser) c.5092C>T (p.Pro1698Ser) c.5217C>T n.3380C>T c.5290C>T (p.Pro1764Ser) n.4111C>T n.2548C>T n.2519C>T n.2409C>T c.4951C>T (p.Pro1651Ser) c.*4463C>T (n.*4463C>T) c.4987C>T (p.Pro1663Ser) n.3019C>T c.1478C>T n.2411C>T c.5350C>T (p.Pro1784Ser) c.5347C>T (p.Pro1783Ser) c.5239C>T (p.Pro1747Ser) c.5218C>T (p.Pro1740Ser) c.4564C>T (p.Pro1522Ser) c.5512C>T (p.Pro1838Ser) c.5260C>T (p.Pro1754Ser) c.4006C>T (p.Pro1336Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088483C>A | CA394315314 | TSC2 | c.*3646C>A (n.*3646C>A) c.5144C>A (p.Pro1715His) c.5294C>A (p.Pro1765His) c.*5810C>A (n.*5810C>A) c.*8046C>A (n.*8046C>A) c.5297C>A (p.Pro1766His) c.5228C>A (p.Pro1743His) c.5096C>A (p.Pro1699His) c.5129C>A (p.Pro1710His) c.1520C>A n.3179C>A c.3951C>A c.5156C>A (p.Pro1719His) n.894C>A c.5099C>A (p.Pro1700His) c.5165C>A (p.Pro1722His) c.5090C>A (p.Pro1697His) n.2945C>A c.5222C>A (p.Pro1741His) c.5168C>A (p.Pro1723His) c.5183C>A (p.Pro1728His) c.5093C>A (p.Pro1698His) c.5218C>A n.3381C>A c.5291C>A (p.Pro1764His) n.4112C>A n.2549C>A n.2520C>A n.2410C>A c.4952C>A (p.Pro1651His) c.*4464C>A (n.*4464C>A) c.4988C>A (p.Pro1663His) n.3020C>A c.1479C>A n.2412C>A c.5351C>A (p.Pro1784His) c.5348C>A (p.Pro1783His) c.5240C>A (p.Pro1747His) c.5219C>A (p.Pro1740His) c.4565C>A (p.Pro1522His) c.5513C>A (p.Pro1838His) c.5261C>A (p.Pro1754His) c.4007C>A (p.Pro1336His) | |
16 | g.2088483C= | CA2202033587 | TSC2 | c.*3646C= (n.*3646C=) c.5144C= (p.Pro1715=) c.5294C= (p.Pro1765=) c.*5810C= (n.*5810C=) c.*8046C= (n.*8046C=) c.5297C= (p.Pro1766=) c.5228C= (p.Pro1743=) c.5096C= (p.Pro1699=) c.5129C= (p.Pro1710=) c.1520C= n.3179C= c.3951C= c.5156C= (p.Pro1719=) n.894C= c.5099C= (p.Pro1700=) c.5165C= (p.Pro1722=) c.5090C= (p.Pro1697=) n.2945C= c.5222C= (p.Pro1741=) c.5168C= (p.Pro1723=) c.5183C= (p.Pro1728=) c.5093C= (p.Pro1698=) c.5218C= n.3381C= c.5291C= (p.Pro1764=) n.4112C= n.2549C= n.2520C= n.2410C= c.4952C= (p.Pro1651=) c.*4464C= (n.*4464C=) c.4988C= (p.Pro1663=) n.3020C= c.1479C= n.2412C= c.5351C= (p.Pro1784=) c.5348C= (p.Pro1783=) c.5240C= (p.Pro1747=) c.5219C= (p.Pro1740=) c.4565C= (p.Pro1522=) c.5513C= (p.Pro1838=) c.5261C= (p.Pro1754=) c.4007C= (p.Pro1336=) | |
16 | g.2088483C>G | CA054992 | TSC2 | c.*3646C>G (n.*3646C>G) c.5144C>G (p.Pro1715Arg) c.5294C>G (p.Pro1765Arg) c.*5810C>G (n.*5810C>G) c.*8046C>G (n.*8046C>G) c.5297C>G (p.Pro1766Arg) c.5228C>G (p.Pro1743Arg) c.5096C>G (p.Pro1699Arg) c.5129C>G (p.Pro1710Arg) c.1520C>G n.3179C>G c.3951C>G c.5156C>G (p.Pro1719Arg) n.894C>G c.5099C>G (p.Pro1700Arg) c.5165C>G (p.Pro1722Arg) c.5090C>G (p.Pro1697Arg) n.2945C>G c.5222C>G (p.Pro1741Arg) c.5168C>G (p.Pro1723Arg) c.5183C>G (p.Pro1728Arg) c.5093C>G (p.Pro1698Arg) c.5218C>G n.3381C>G c.5291C>G (p.Pro1764Arg) n.4112C>G n.2549C>G n.2520C>G n.2410C>G c.4952C>G (p.Pro1651Arg) c.*4464C>G (n.*4464C>G) c.4988C>G (p.Pro1663Arg) n.3020C>G c.1479C>G n.2412C>G c.5351C>G (p.Pro1784Arg) c.5348C>G (p.Pro1783Arg) c.5240C>G (p.Pro1747Arg) c.5219C>G (p.Pro1740Arg) c.4565C>G (p.Pro1522Arg) c.5513C>G (p.Pro1838Arg) c.5261C>G (p.Pro1754Arg) c.4007C>G (p.Pro1336Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088483C>T | CA276759930 | TSC2 | c.*3646C>T (n.*3646C>T) c.5144C>T (p.Pro1715Leu) c.5294C>T (p.Pro1765Leu) c.*5810C>T (n.*5810C>T) c.*8046C>T (n.*8046C>T) c.5297C>T (p.Pro1766Leu) c.5228C>T (p.Pro1743Leu) c.5096C>T (p.Pro1699Leu) c.5129C>T (p.Pro1710Leu) c.1520C>T n.3179C>T c.3951C>T c.5156C>T (p.Pro1719Leu) n.894C>T c.5099C>T (p.Pro1700Leu) c.5165C>T (p.Pro1722Leu) c.5090C>T (p.Pro1697Leu) n.2945C>T c.5222C>T (p.Pro1741Leu) c.5168C>T (p.Pro1723Leu) c.5183C>T (p.Pro1728Leu) c.5093C>T (p.Pro1698Leu) c.5218C>T n.3381C>T c.5291C>T (p.Pro1764Leu) n.4112C>T n.2549C>T n.2520C>T n.2410C>T c.4952C>T (p.Pro1651Leu) c.*4464C>T (n.*4464C>T) c.4988C>T (p.Pro1663Leu) n.3020C>T c.1479C>T n.2412C>T c.5351C>T (p.Pro1784Leu) c.5348C>T (p.Pro1783Leu) c.5240C>T (p.Pro1747Leu) c.5219C>T (p.Pro1740Leu) c.4565C>T (p.Pro1522Leu) c.5513C>T (p.Pro1838Leu) c.5261C>T (p.Pro1754Leu) c.4007C>T (p.Pro1336Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088484T>A | CA493043681 | TSC2 | c.*3647T>A (n.*3647T>A) c.5145T>A (p.Pro1715=) c.5295T>A (p.Pro1765=) c.*5811T>A (n.*5811T>A) c.*8047T>A (n.*8047T>A) c.5298T>A (p.Pro1766=) c.5229T>A (p.Pro1743=) c.5097T>A (p.Pro1699=) c.5130T>A (p.Pro1710=) c.1521T>A n.3180T>A c.3952T>A c.5157T>A (p.Pro1719=) n.895T>A c.5100T>A (p.Pro1700=) c.5166T>A (p.Pro1722=) c.5091T>A (p.Pro1697=) n.2946T>A c.5223T>A (p.Pro1741=) c.5169T>A (p.Pro1723=) c.5184T>A (p.Pro1728=) c.5094T>A (p.Pro1698=) c.5219T>A n.3382T>A c.5292T>A (p.Pro1764=) n.4113T>A n.2550T>A n.2521T>A n.2411T>A c.4953T>A (p.Pro1651=) c.*4465T>A (n.*4465T>A) c.4989T>A (p.Pro1663=) n.3021T>A c.1480T>A n.2413T>A c.5352T>A (p.Pro1784=) c.5349T>A (p.Pro1783=) c.5241T>A (p.Pro1747=) c.5220T>A (p.Pro1740=) c.4566T>A (p.Pro1522=) c.5514T>A (p.Pro1838=) c.5262T>A (p.Pro1754=) c.4008T>A (p.Pro1336=) | ClinVar dbSNP |
16 | g.2088484T>C | CA493043682 | TSC2 | c.*3647T>C (n.*3647T>C) c.5145T>C (p.Pro1715=) c.5295T>C (p.Pro1765=) c.*5811T>C (n.*5811T>C) c.*8047T>C (n.*8047T>C) c.5298T>C (p.Pro1766=) c.5229T>C (p.Pro1743=) c.5097T>C (p.Pro1699=) c.5130T>C (p.Pro1710=) c.1521T>C n.3180T>C c.3952T>C c.5157T>C (p.Pro1719=) n.895T>C c.5100T>C (p.Pro1700=) c.5166T>C (p.Pro1722=) c.5091T>C (p.Pro1697=) n.2946T>C c.5223T>C (p.Pro1741=) c.5169T>C (p.Pro1723=) c.5184T>C (p.Pro1728=) c.5094T>C (p.Pro1698=) c.5219T>C n.3382T>C c.5292T>C (p.Pro1764=) n.4113T>C n.2550T>C n.2521T>C n.2411T>C c.4953T>C (p.Pro1651=) c.*4465T>C (n.*4465T>C) c.4989T>C (p.Pro1663=) n.3021T>C c.1480T>C n.2413T>C c.5352T>C (p.Pro1784=) c.5349T>C (p.Pro1783=) c.5241T>C (p.Pro1747=) c.5220T>C (p.Pro1740=) c.4566T>C (p.Pro1522=) c.5514T>C (p.Pro1838=) c.5262T>C (p.Pro1754=) c.4008T>C (p.Pro1336=) | gnomAD v4 |
16 | g.2088484T>G | CA493043683 | TSC2 | c.*3647T>G (n.*3647T>G) c.5145T>G (p.Pro1715=) c.5295T>G (p.Pro1765=) c.*5811T>G (n.*5811T>G) c.*8047T>G (n.*8047T>G) c.5298T>G (p.Pro1766=) c.5229T>G (p.Pro1743=) c.5097T>G (p.Pro1699=) c.5130T>G (p.Pro1710=) c.1521T>G n.3180T>G c.3952T>G c.5157T>G (p.Pro1719=) n.895T>G c.5100T>G (p.Pro1700=) c.5166T>G (p.Pro1722=) c.5091T>G (p.Pro1697=) n.2946T>G c.5223T>G (p.Pro1741=) c.5169T>G (p.Pro1723=) c.5184T>G (p.Pro1728=) c.5094T>G (p.Pro1698=) c.5219T>G n.3382T>G c.5292T>G (p.Pro1764=) n.4113T>G n.2550T>G n.2521T>G n.2411T>G c.4953T>G (p.Pro1651=) c.*4465T>G (n.*4465T>G) c.4989T>G (p.Pro1663=) n.3021T>G c.1480T>G n.2413T>G c.5352T>G (p.Pro1784=) c.5349T>G (p.Pro1783=) c.5241T>G (p.Pro1747=) c.5220T>G (p.Pro1740=) c.4566T>G (p.Pro1522=) c.5514T>G (p.Pro1838=) c.5262T>G (p.Pro1754=) c.4008T>G (p.Pro1336=) | |
16 | g.2088485C>A | CA276759934 | TSC2 | c.*3648C>A (n.*3648C>A) c.5146C>A (p.Leu1716Met) c.5296C>A (p.Leu1766Met) c.*5812C>A (n.*5812C>A) c.*8048C>A (n.*8048C>A) c.5299C>A (p.Leu1767Met) c.5230C>A (p.Leu1744Met) c.5098C>A (p.Leu1700Met) c.5131C>A (p.Leu1711Met) c.1522C>A n.3181C>A c.3953C>A c.5158C>A (p.Leu1720Met) n.896C>A c.5101C>A (p.Leu1701Met) c.5167C>A (p.Leu1723Met) c.5092C>A (p.Leu1698Met) n.2947C>A c.5224C>A (p.Leu1742Met) c.5170C>A (p.Leu1724Met) c.5185C>A (p.Leu1729Met) c.5095C>A (p.Leu1699Met) c.5220C>A n.3383C>A c.5293C>A (p.Leu1765Met) n.4114C>A n.2551C>A n.2522C>A n.2412C>A c.4954C>A (p.Leu1652Met) c.*4466C>A (n.*4466C>A) c.4990C>A (p.Leu1664Met) n.3022C>A c.1481C>A n.2414C>A c.5353C>A (p.Leu1785Met) c.5350C>A (p.Leu1784Met) c.5242C>A (p.Leu1748Met) c.5221C>A (p.Leu1741Met) c.4567C>A (p.Leu1523Met) c.5515C>A (p.Leu1839Met) c.5263C>A (p.Leu1755Met) c.4009C>A (p.Leu1337Met) | ClinVar dbSNP |
16 | g.2088485C= | CA2202033599 | TSC2 | c.*3648C= (n.*3648C=) c.5146C= (p.Leu1716=) c.5296C= (p.Leu1766=) c.*5812C= (n.*5812C=) c.*8048C= (n.*8048C=) c.5299C= (p.Leu1767=) c.5230C= (p.Leu1744=) c.5098C= (p.Leu1700=) c.5131C= (p.Leu1711=) c.1522C= n.3181C= c.3953C= c.5158C= (p.Leu1720=) n.896C= c.5101C= (p.Leu1701=) c.5167C= (p.Leu1723=) c.5092C= (p.Leu1698=) n.2947C= c.5224C= (p.Leu1742=) c.5170C= (p.Leu1724=) c.5185C= (p.Leu1729=) c.5095C= (p.Leu1699=) c.5220C= n.3383C= c.5293C= (p.Leu1765=) n.4114C= n.2551C= n.2522C= n.2412C= c.4954C= (p.Leu1652=) c.*4466C= (n.*4466C=) c.4990C= (p.Leu1664=) n.3022C= c.1481C= n.2414C= c.5353C= (p.Leu1785=) c.5350C= (p.Leu1784=) c.5242C= (p.Leu1748=) c.5221C= (p.Leu1741=) c.4567C= (p.Leu1523=) c.5515C= (p.Leu1839=) c.5263C= (p.Leu1755=) c.4009C= (p.Leu1337=) | |
16 | g.2088485C>G | CA054998 | TSC2 | c.*3648C>G (n.*3648C>G) c.5146C>G (p.Leu1716Val) c.5296C>G (p.Leu1766Val) c.*5812C>G (n.*5812C>G) c.*8048C>G (n.*8048C>G) c.5299C>G (p.Leu1767Val) c.5230C>G (p.Leu1744Val) c.5098C>G (p.Leu1700Val) c.5131C>G (p.Leu1711Val) c.1522C>G n.3181C>G c.3953C>G c.5158C>G (p.Leu1720Val) n.896C>G c.5101C>G (p.Leu1701Val) c.5167C>G (p.Leu1723Val) c.5092C>G (p.Leu1698Val) n.2947C>G c.5224C>G (p.Leu1742Val) c.5170C>G (p.Leu1724Val) c.5185C>G (p.Leu1729Val) c.5095C>G (p.Leu1699Val) c.5220C>G n.3383C>G c.5293C>G (p.Leu1765Val) n.4114C>G n.2551C>G n.2522C>G n.2412C>G c.4954C>G (p.Leu1652Val) c.*4466C>G (n.*4466C>G) c.4990C>G (p.Leu1664Val) n.3022C>G c.1481C>G n.2414C>G c.5353C>G (p.Leu1785Val) c.5350C>G (p.Leu1784Val) c.5242C>G (p.Leu1748Val) c.5221C>G (p.Leu1741Val) c.4567C>G (p.Leu1523Val) c.5515C>G (p.Leu1839Val) c.5263C>G (p.Leu1755Val) c.4009C>G (p.Leu1337Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088485C>T | CA276759940 | TSC2 | c.*3648C>T (n.*3648C>T) c.5146C>T (p.Leu1716=) c.5296C>T (p.Leu1766=) c.*5812C>T (n.*5812C>T) c.*8048C>T (n.*8048C>T) c.5299C>T (p.Leu1767=) c.5230C>T (p.Leu1744=) c.5098C>T (p.Leu1700=) c.5131C>T (p.Leu1711=) c.1522C>T n.3181C>T c.3953C>T c.5158C>T (p.Leu1720=) n.896C>T c.5101C>T (p.Leu1701=) c.5167C>T (p.Leu1723=) c.5092C>T (p.Leu1698=) n.2947C>T c.5224C>T (p.Leu1742=) c.5170C>T (p.Leu1724=) c.5185C>T (p.Leu1729=) c.5095C>T (p.Leu1699=) c.5220C>T n.3383C>T c.5293C>T (p.Leu1765=) n.4114C>T n.2551C>T n.2522C>T n.2412C>T c.4954C>T (p.Leu1652=) c.*4466C>T (n.*4466C>T) c.4990C>T (p.Leu1664=) n.3022C>T c.1481C>T n.2414C>T c.5353C>T (p.Leu1785=) c.5350C>T (p.Leu1784=) c.5242C>T (p.Leu1748=) c.5221C>T (p.Leu1741=) c.4567C>T (p.Leu1523=) c.5515C>T (p.Leu1839=) c.5263C>T (p.Leu1755=) c.4009C>T (p.Leu1337=) | ClinVar dbSNP |
16 | g.2088486T>A | CA394315331 | TSC2 | c.*3649T>A (n.*3649T>A) c.5147T>A (p.Leu1716Gln) c.5297T>A (p.Leu1766Gln) c.*5813T>A (n.*5813T>A) c.*8049T>A (n.*8049T>A) c.5300T>A (p.Leu1767Gln) c.5231T>A (p.Leu1744Gln) c.5099T>A (p.Leu1700Gln) c.5132T>A (p.Leu1711Gln) c.1523T>A n.3182T>A c.3954T>A c.5159T>A (p.Leu1720Gln) n.897T>A c.5102T>A (p.Leu1701Gln) c.5168T>A (p.Leu1723Gln) c.5093T>A (p.Leu1698Gln) n.2948T>A c.5225T>A (p.Leu1742Gln) c.5171T>A (p.Leu1724Gln) c.5186T>A (p.Leu1729Gln) c.5096T>A (p.Leu1699Gln) c.5221T>A n.3384T>A c.5294T>A (p.Leu1765Gln) n.4115T>A n.2552T>A n.2523T>A n.2413T>A c.4955T>A (p.Leu1652Gln) c.*4467T>A (n.*4467T>A) c.4991T>A (p.Leu1664Gln) n.3023T>A c.1482T>A n.2415T>A c.5354T>A (p.Leu1785Gln) c.5351T>A (p.Leu1784Gln) c.5243T>A (p.Leu1748Gln) c.5222T>A (p.Leu1741Gln) c.4568T>A (p.Leu1523Gln) c.5516T>A (p.Leu1839Gln) c.5264T>A (p.Leu1755Gln) c.4010T>A (p.Leu1337Gln) | ClinVar |
16 | g.2088486T>C | CA394315348 | TSC2 | c.*3649T>C (n.*3649T>C) c.5147T>C (p.Leu1716Pro) c.5297T>C (p.Leu1766Pro) c.*5813T>C (n.*5813T>C) c.*8049T>C (n.*8049T>C) c.5300T>C (p.Leu1767Pro) c.5231T>C (p.Leu1744Pro) c.5099T>C (p.Leu1700Pro) c.5132T>C (p.Leu1711Pro) c.1523T>C n.3182T>C c.3954T>C c.5159T>C (p.Leu1720Pro) n.897T>C c.5102T>C (p.Leu1701Pro) c.5168T>C (p.Leu1723Pro) c.5093T>C (p.Leu1698Pro) n.2948T>C c.5225T>C (p.Leu1742Pro) c.5171T>C (p.Leu1724Pro) c.5186T>C (p.Leu1729Pro) c.5096T>C (p.Leu1699Pro) c.5221T>C n.3384T>C c.5294T>C (p.Leu1765Pro) n.4115T>C n.2552T>C n.2523T>C n.2413T>C c.4955T>C (p.Leu1652Pro) c.*4467T>C (n.*4467T>C) c.4991T>C (p.Leu1664Pro) n.3023T>C c.1482T>C n.2415T>C c.5354T>C (p.Leu1785Pro) c.5351T>C (p.Leu1784Pro) c.5243T>C (p.Leu1748Pro) c.5222T>C (p.Leu1741Pro) c.4568T>C (p.Leu1523Pro) c.5516T>C (p.Leu1839Pro) c.5264T>C (p.Leu1755Pro) c.4010T>C (p.Leu1337Pro) | |
16 | g.2088486T>G | CA394315336 | TSC2 | c.*3649T>G (n.*3649T>G) c.5147T>G (p.Leu1716Arg) c.5297T>G (p.Leu1766Arg) c.*5813T>G (n.*5813T>G) c.*8049T>G (n.*8049T>G) c.5300T>G (p.Leu1767Arg) c.5231T>G (p.Leu1744Arg) c.5099T>G (p.Leu1700Arg) c.5132T>G (p.Leu1711Arg) c.1523T>G n.3182T>G c.3954T>G c.5159T>G (p.Leu1720Arg) n.897T>G c.5102T>G (p.Leu1701Arg) c.5168T>G (p.Leu1723Arg) c.5093T>G (p.Leu1698Arg) n.2948T>G c.5225T>G (p.Leu1742Arg) c.5171T>G (p.Leu1724Arg) c.5186T>G (p.Leu1729Arg) c.5096T>G (p.Leu1699Arg) c.5221T>G n.3384T>G c.5294T>G (p.Leu1765Arg) n.4115T>G n.2552T>G n.2523T>G n.2413T>G c.4955T>G (p.Leu1652Arg) c.*4467T>G (n.*4467T>G) c.4991T>G (p.Leu1664Arg) n.3023T>G c.1482T>G n.2415T>G c.5354T>G (p.Leu1785Arg) c.5351T>G (p.Leu1784Arg) c.5243T>G (p.Leu1748Arg) c.5222T>G (p.Leu1741Arg) c.4568T>G (p.Leu1523Arg) c.5516T>G (p.Leu1839Arg) c.5264T>G (p.Leu1755Arg) c.4010T>G (p.Leu1337Arg) | |
16 | g.2088487G>A | CA493043685 | TSC2 | c.*3650G>A (n.*3650G>A) c.5148G>A (p.Leu1716=) c.5298G>A (p.Leu1766=) c.*5814G>A (n.*5814G>A) c.*8050G>A (n.*8050G>A) c.5301G>A (p.Leu1767=) c.5232G>A (p.Leu1744=) c.5100G>A (p.Leu1700=) c.5133G>A (p.Leu1711=) c.1524G>A n.3183G>A c.3955G>A c.5160G>A (p.Leu1720=) n.898G>A c.5103G>A (p.Leu1701=) c.5169G>A (p.Leu1723=) c.5094G>A (p.Leu1698=) n.2949G>A c.5226G>A (p.Leu1742=) c.5172G>A (p.Leu1724=) c.5187G>A (p.Leu1729=) c.5097G>A (p.Leu1699=) c.5222G>A n.3385G>A c.5295G>A (p.Leu1765=) n.4116G>A n.2553G>A n.2524G>A n.2414G>A c.4956G>A (p.Leu1652=) c.*4468G>A (n.*4468G>A) c.4992G>A (p.Leu1664=) n.3024G>A c.1483G>A n.2416G>A c.5355G>A (p.Leu1785=) c.5352G>A (p.Leu1784=) c.5244G>A (p.Leu1748=) c.5223G>A (p.Leu1741=) c.4569G>A (p.Leu1523=) c.5517G>A (p.Leu1839=) c.5265G>A (p.Leu1755=) c.4011G>A (p.Leu1337=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088487G>C | CA10637336 | TSC2 | c.*3650G>C (n.*3650G>C) c.5148G>C (p.Leu1716=) c.5298G>C (p.Leu1766=) c.*5814G>C (n.*5814G>C) c.*8050G>C (n.*8050G>C) c.5301G>C (p.Leu1767=) c.5232G>C (p.Leu1744=) c.5100G>C (p.Leu1700=) c.5133G>C (p.Leu1711=) c.1524G>C n.3183G>C c.3955G>C c.5160G>C (p.Leu1720=) n.898G>C c.5103G>C (p.Leu1701=) c.5169G>C (p.Leu1723=) c.5094G>C (p.Leu1698=) n.2949G>C c.5226G>C (p.Leu1742=) c.5172G>C (p.Leu1724=) c.5187G>C (p.Leu1729=) c.5097G>C (p.Leu1699=) c.5222G>C n.3385G>C c.5295G>C (p.Leu1765=) n.4116G>C n.2553G>C n.2524G>C n.2414G>C c.4956G>C (p.Leu1652=) c.*4468G>C (n.*4468G>C) c.4992G>C (p.Leu1664=) n.3024G>C c.1483G>C n.2416G>C c.5355G>C (p.Leu1785=) c.5352G>C (p.Leu1784=) c.5244G>C (p.Leu1748=) c.5223G>C (p.Leu1741=) c.4569G>C (p.Leu1523=) c.5517G>C (p.Leu1839=) c.5265G>C (p.Leu1755=) c.4011G>C (p.Leu1337=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088487G= | CA2202033605 | TSC2 | c.*3650G= (n.*3650G=) c.5148G= (p.Leu1716=) c.5298G= (p.Leu1766=) c.*5814G= (n.*5814G=) c.*8050G= (n.*8050G=) c.5301G= (p.Leu1767=) c.5232G= (p.Leu1744=) c.5100G= (p.Leu1700=) c.5133G= (p.Leu1711=) c.1524G= n.3183G= c.3955G= c.5160G= (p.Leu1720=) n.898G= c.5103G= (p.Leu1701=) c.5169G= (p.Leu1723=) c.5094G= (p.Leu1698=) n.2949G= c.5226G= (p.Leu1742=) c.5172G= (p.Leu1724=) c.5187G= (p.Leu1729=) c.5097G= (p.Leu1699=) c.5222G= n.3385G= c.5295G= (p.Leu1765=) n.4116G= n.2553G= n.2524G= n.2414G= c.4956G= (p.Leu1652=) c.*4468G= (n.*4468G=) c.4992G= (p.Leu1664=) n.3024G= c.1483G= n.2416G= c.5355G= (p.Leu1785=) c.5352G= (p.Leu1784=) c.5244G= (p.Leu1748=) c.5223G= (p.Leu1741=) c.4569G= (p.Leu1523=) c.5517G= (p.Leu1839=) c.5265G= (p.Leu1755=) c.4011G= (p.Leu1337=) | |
16 | g.2088487G>T | CA493043686 | TSC2 | c.*3650G>T (n.*3650G>T) c.5148G>T (p.Leu1716=) c.5298G>T (p.Leu1766=) c.*5814G>T (n.*5814G>T) c.*8050G>T (n.*8050G>T) c.5301G>T (p.Leu1767=) c.5232G>T (p.Leu1744=) c.5100G>T (p.Leu1700=) c.5133G>T (p.Leu1711=) c.1524G>T n.3183G>T c.3955G>T c.5160G>T (p.Leu1720=) n.898G>T c.5103G>T (p.Leu1701=) c.5169G>T (p.Leu1723=) c.5094G>T (p.Leu1698=) n.2949G>T c.5226G>T (p.Leu1742=) c.5172G>T (p.Leu1724=) c.5187G>T (p.Leu1729=) c.5097G>T (p.Leu1699=) c.5222G>T n.3385G>T c.5295G>T (p.Leu1765=) n.4116G>T n.2553G>T n.2524G>T n.2414G>T c.4956G>T (p.Leu1652=) c.*4468G>T (n.*4468G>T) c.4992G>T (p.Leu1664=) n.3024G>T c.1483G>T n.2416G>T c.5355G>T (p.Leu1785=) c.5352G>T (p.Leu1784=) c.5244G>T (p.Leu1748=) c.5223G>T (p.Leu1741=) c.4569G>T (p.Leu1523=) c.5517G>T (p.Leu1839=) c.5265G>T (p.Leu1755=) c.4011G>T (p.Leu1337=) | |
16 | g.2088488G>A | CA394315354 | TSC2 | c.*3651G>A (n.*3651G>A) c.5149G>A (p.Val1717Met) c.5299G>A (p.Val1767Met) c.*5815G>A (n.*5815G>A) c.*8051G>A (n.*8051G>A) c.5302G>A (p.Val1768Met) c.5233G>A (p.Val1745Met) c.5101G>A (p.Val1701Met) c.5134G>A (p.Val1712Met) c.1525G>A n.3184G>A c.3956G>A c.5161G>A (p.Val1721Met) n.899G>A c.5104G>A (p.Val1702Met) c.5170G>A (p.Val1724Met) c.5095G>A (p.Val1699Met) n.2950G>A c.5227G>A (p.Val1743Met) c.5173G>A (p.Val1725Met) c.5188G>A (p.Val1730Met) c.5098G>A (p.Val1700Met) c.5223G>A n.3386G>A c.5296G>A (p.Val1766Met) n.4117G>A n.2554G>A n.2525G>A n.2415G>A c.4957G>A (p.Val1653Met) c.*4469G>A (n.*4469G>A) c.4993G>A (p.Val1665Met) n.3025G>A c.1484G>A n.2417G>A c.5356G>A (p.Val1786Met) c.5353G>A (p.Val1785Met) c.5245G>A (p.Val1749Met) c.5224G>A (p.Val1742Met) c.4570G>A (p.Val1524Met) c.5518G>A (p.Val1840Met) c.5266G>A (p.Val1756Met) c.4012G>A (p.Val1338Met) | ClinVar dbSNP |
16 | g.2088488G>C | CA394315356 | TSC2 | c.*3651G>C (n.*3651G>C) c.5149G>C (p.Val1717Leu) c.5299G>C (p.Val1767Leu) c.*5815G>C (n.*5815G>C) c.*8051G>C (n.*8051G>C) c.5302G>C (p.Val1768Leu) c.5233G>C (p.Val1745Leu) c.5101G>C (p.Val1701Leu) c.5134G>C (p.Val1712Leu) c.1525G>C n.3184G>C c.3956G>C c.5161G>C (p.Val1721Leu) n.899G>C c.5104G>C (p.Val1702Leu) c.5170G>C (p.Val1724Leu) c.5095G>C (p.Val1699Leu) n.2950G>C c.5227G>C (p.Val1743Leu) c.5173G>C (p.Val1725Leu) c.5188G>C (p.Val1730Leu) c.5098G>C (p.Val1700Leu) c.5223G>C n.3386G>C c.5296G>C (p.Val1766Leu) n.4117G>C n.2554G>C n.2525G>C n.2415G>C c.4957G>C (p.Val1653Leu) c.*4469G>C (n.*4469G>C) c.4993G>C (p.Val1665Leu) n.3025G>C c.1484G>C n.2417G>C c.5356G>C (p.Val1786Leu) c.5353G>C (p.Val1785Leu) c.5245G>C (p.Val1749Leu) c.5224G>C (p.Val1742Leu) c.4570G>C (p.Val1524Leu) c.5518G>C (p.Val1840Leu) c.5266G>C (p.Val1756Leu) c.4012G>C (p.Val1338Leu) | ClinVar |
16 | g.2088488G>T | CA394315357 | TSC2 | c.*3651G>T (n.*3651G>T) c.5149G>T (p.Val1717Leu) c.5299G>T (p.Val1767Leu) c.*5815G>T (n.*5815G>T) c.*8051G>T (n.*8051G>T) c.5302G>T (p.Val1768Leu) c.5233G>T (p.Val1745Leu) c.5101G>T (p.Val1701Leu) c.5134G>T (p.Val1712Leu) c.1525G>T n.3184G>T c.3956G>T c.5161G>T (p.Val1721Leu) n.899G>T c.5104G>T (p.Val1702Leu) c.5170G>T (p.Val1724Leu) c.5095G>T (p.Val1699Leu) n.2950G>T c.5227G>T (p.Val1743Leu) c.5173G>T (p.Val1725Leu) c.5188G>T (p.Val1730Leu) c.5098G>T (p.Val1700Leu) c.5223G>T n.3386G>T c.5296G>T (p.Val1766Leu) n.4117G>T n.2554G>T n.2525G>T n.2415G>T c.4957G>T (p.Val1653Leu) c.*4469G>T (n.*4469G>T) c.4993G>T (p.Val1665Leu) n.3025G>T c.1484G>T n.2417G>T c.5356G>T (p.Val1786Leu) c.5353G>T (p.Val1785Leu) c.5245G>T (p.Val1749Leu) c.5224G>T (p.Val1742Leu) c.4570G>T (p.Val1524Leu) c.5518G>T (p.Val1840Leu) c.5266G>T (p.Val1756Leu) c.4012G>T (p.Val1338Leu) | gnomAD v4 |
16 | g.2088489T>A | CA394315363 | TSC2 | c.*3652T>A (n.*3652T>A) c.5150T>A (p.Val1717Glu) c.5300T>A (p.Val1767Glu) c.*5816T>A (n.*5816T>A) c.*8052T>A (n.*8052T>A) c.5303T>A (p.Val1768Glu) c.5234T>A (p.Val1745Glu) c.5102T>A (p.Val1701Glu) c.5135T>A (p.Val1712Glu) c.1526T>A n.3185T>A c.3957T>A c.5162T>A (p.Val1721Glu) n.900T>A c.5105T>A (p.Val1702Glu) c.5171T>A (p.Val1724Glu) c.5096T>A (p.Val1699Glu) n.2951T>A c.5228T>A (p.Val1743Glu) c.5174T>A (p.Val1725Glu) c.5189T>A (p.Val1730Glu) c.5099T>A (p.Val1700Glu) c.5224T>A n.3387T>A c.5297T>A (p.Val1766Glu) n.4118T>A n.2555T>A n.2526T>A n.2416T>A c.4958T>A (p.Val1653Glu) c.*4470T>A (n.*4470T>A) c.4994T>A (p.Val1665Glu) n.3026T>A c.1485T>A n.2418T>A c.5357T>A (p.Val1786Glu) c.5354T>A (p.Val1785Glu) c.5246T>A (p.Val1749Glu) c.5225T>A (p.Val1742Glu) c.4571T>A (p.Val1524Glu) c.5519T>A (p.Val1840Glu) c.5267T>A (p.Val1756Glu) c.4013T>A (p.Val1338Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088489T>C | CA394315367 | TSC2 | c.*3652T>C (n.*3652T>C) c.5150T>C (p.Val1717Ala) c.5300T>C (p.Val1767Ala) c.*5816T>C (n.*5816T>C) c.*8052T>C (n.*8052T>C) c.5303T>C (p.Val1768Ala) c.5234T>C (p.Val1745Ala) c.5102T>C (p.Val1701Ala) c.5135T>C (p.Val1712Ala) c.1526T>C n.3185T>C c.3957T>C c.5162T>C (p.Val1721Ala) n.900T>C c.5105T>C (p.Val1702Ala) c.5171T>C (p.Val1724Ala) c.5096T>C (p.Val1699Ala) n.2951T>C c.5228T>C (p.Val1743Ala) c.5174T>C (p.Val1725Ala) c.5189T>C (p.Val1730Ala) c.5099T>C (p.Val1700Ala) c.5224T>C n.3387T>C c.5297T>C (p.Val1766Ala) n.4118T>C n.2555T>C n.2526T>C n.2416T>C c.4958T>C (p.Val1653Ala) c.*4470T>C (n.*4470T>C) c.4994T>C (p.Val1665Ala) n.3026T>C c.1485T>C n.2418T>C c.5357T>C (p.Val1786Ala) c.5354T>C (p.Val1785Ala) c.5246T>C (p.Val1749Ala) c.5225T>C (p.Val1742Ala) c.4571T>C (p.Val1524Ala) c.5519T>C (p.Val1840Ala) c.5267T>C (p.Val1756Ala) c.4013T>C (p.Val1338Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.2088489T>G | CA394315371 | TSC2 | c.*3652T>G (n.*3652T>G) c.5150T>G (p.Val1717Gly) c.5300T>G (p.Val1767Gly) c.*5816T>G (n.*5816T>G) c.*8052T>G (n.*8052T>G) c.5303T>G (p.Val1768Gly) c.5234T>G (p.Val1745Gly) c.5102T>G (p.Val1701Gly) c.5135T>G (p.Val1712Gly) c.1526T>G n.3185T>G c.3957T>G c.5162T>G (p.Val1721Gly) n.900T>G c.5105T>G (p.Val1702Gly) c.5171T>G (p.Val1724Gly) c.5096T>G (p.Val1699Gly) n.2951T>G c.5228T>G (p.Val1743Gly) c.5174T>G (p.Val1725Gly) c.5189T>G (p.Val1730Gly) c.5099T>G (p.Val1700Gly) c.5224T>G n.3387T>G c.5297T>G (p.Val1766Gly) n.4118T>G n.2555T>G n.2526T>G n.2416T>G c.4958T>G (p.Val1653Gly) c.*4470T>G (n.*4470T>G) c.4994T>G (p.Val1665Gly) n.3026T>G c.1485T>G n.2418T>G c.5357T>G (p.Val1786Gly) c.5354T>G (p.Val1785Gly) c.5246T>G (p.Val1749Gly) c.5225T>G (p.Val1742Gly) c.4571T>G (p.Val1524Gly) c.5519T>G (p.Val1840Gly) c.5267T>G (p.Val1756Gly) c.4013T>G (p.Val1338Gly) | |
16 | g.2088489T= | CA2202033610 | TSC2 | c.*3652T= (n.*3652T=) c.5150T= (p.Val1717=) c.5300T= (p.Val1767=) c.*5816T= (n.*5816T=) c.*8052T= (n.*8052T=) c.5303T= (p.Val1768=) c.5234T= (p.Val1745=) c.5102T= (p.Val1701=) c.5135T= (p.Val1712=) c.1526T= n.3185T= c.3957T= c.5162T= (p.Val1721=) n.900T= c.5105T= (p.Val1702=) c.5171T= (p.Val1724=) c.5096T= (p.Val1699=) n.2951T= c.5228T= (p.Val1743=) c.5174T= (p.Val1725=) c.5189T= (p.Val1730=) c.5099T= (p.Val1700=) c.5224T= n.3387T= c.5297T= (p.Val1766=) n.4118T= n.2555T= n.2526T= n.2416T= c.4958T= (p.Val1653=) c.*4470T= (n.*4470T=) c.4994T= (p.Val1665=) n.3026T= c.1485T= n.2418T= c.5357T= (p.Val1786=) c.5354T= (p.Val1785=) c.5246T= (p.Val1749=) c.5225T= (p.Val1742=) c.4571T= (p.Val1524=) c.5519T= (p.Val1840=) c.5267T= (p.Val1756=) c.4013T= (p.Val1338=) | |
16 | g.2088490G>A | CA493043687 | TSC2 | c.*3653G>A (n.*3653G>A) c.5151G>A (p.Val1717=) c.5301G>A (p.Val1767=) c.*5817G>A (n.*5817G>A) c.*8053G>A (n.*8053G>A) c.5304G>A (p.Val1768=) c.5235G>A (p.Val1745=) c.5103G>A (p.Val1701=) c.5136G>A (p.Val1712=) c.1527G>A n.3186G>A c.3958G>A c.5163G>A (p.Val1721=) n.901G>A c.5106G>A (p.Val1702=) c.5172G>A (p.Val1724=) c.5097G>A (p.Val1699=) n.2952G>A c.5229G>A (p.Val1743=) c.5175G>A (p.Val1725=) c.5190G>A (p.Val1730=) c.5100G>A (p.Val1700=) c.5225G>A n.3388G>A c.5298G>A (p.Val1766=) n.4119G>A n.2556G>A n.2527G>A n.2417G>A c.4959G>A (p.Val1653=) c.*4471G>A (n.*4471G>A) c.4995G>A (p.Val1665=) n.3027G>A c.1486G>A n.2419G>A c.5358G>A (p.Val1786=) c.5355G>A (p.Val1785=) c.5247G>A (p.Val1749=) c.5226G>A (p.Val1742=) c.4572G>A (p.Val1524=) c.5520G>A (p.Val1840=) c.5268G>A (p.Val1756=) c.4014G>A (p.Val1338=) | ClinVar dbSNP |
16 | g.2088490G>C | CA493043688 | TSC2 | c.*3653G>C (n.*3653G>C) c.5151G>C (p.Val1717=) c.5301G>C (p.Val1767=) c.*5817G>C (n.*5817G>C) c.*8053G>C (n.*8053G>C) c.5304G>C (p.Val1768=) c.5235G>C (p.Val1745=) c.5103G>C (p.Val1701=) c.5136G>C (p.Val1712=) c.1527G>C n.3186G>C c.3958G>C c.5163G>C (p.Val1721=) n.901G>C c.5106G>C (p.Val1702=) c.5172G>C (p.Val1724=) c.5097G>C (p.Val1699=) n.2952G>C c.5229G>C (p.Val1743=) c.5175G>C (p.Val1725=) c.5190G>C (p.Val1730=) c.5100G>C (p.Val1700=) c.5225G>C n.3388G>C c.5298G>C (p.Val1766=) n.4119G>C n.2556G>C n.2527G>C n.2417G>C c.4959G>C (p.Val1653=) c.*4471G>C (n.*4471G>C) c.4995G>C (p.Val1665=) n.3027G>C c.1486G>C n.2419G>C c.5358G>C (p.Val1786=) c.5355G>C (p.Val1785=) c.5247G>C (p.Val1749=) c.5226G>C (p.Val1742=) c.4572G>C (p.Val1524=) c.5520G>C (p.Val1840=) c.5268G>C (p.Val1756=) c.4014G>C (p.Val1338=) | |
16 | g.2088490G= | CA2202033617 | TSC2 | c.*3653G= (n.*3653G=) c.5151G= (p.Val1717=) c.5301G= (p.Val1767=) c.*5817G= (n.*5817G=) c.*8053G= (n.*8053G=) c.5304G= (p.Val1768=) c.5235G= (p.Val1745=) c.5103G= (p.Val1701=) c.5136G= (p.Val1712=) c.1527G= n.3186G= c.3958G= c.5163G= (p.Val1721=) n.901G= c.5106G= (p.Val1702=) c.5172G= (p.Val1724=) c.5097G= (p.Val1699=) n.2952G= c.5229G= (p.Val1743=) c.5175G= (p.Val1725=) c.5190G= (p.Val1730=) c.5100G= (p.Val1700=) c.5225G= n.3388G= c.5298G= (p.Val1766=) n.4119G= n.2556G= n.2527G= n.2417G= c.4959G= (p.Val1653=) c.*4471G= (n.*4471G=) c.4995G= (p.Val1665=) n.3027G= c.1486G= n.2419G= c.5358G= (p.Val1786=) c.5355G= (p.Val1785=) c.5247G= (p.Val1749=) c.5226G= (p.Val1742=) c.4572G= (p.Val1524=) c.5520G= (p.Val1840=) c.5268G= (p.Val1756=) c.4014G= (p.Val1338=) | |
16 | g.2088490G>T | CA493043689 | TSC2 | c.*3653G>T (n.*3653G>T) c.5151G>T (p.Val1717=) c.5301G>T (p.Val1767=) c.*5817G>T (n.*5817G>T) c.*8053G>T (n.*8053G>T) c.5304G>T (p.Val1768=) c.5235G>T (p.Val1745=) c.5103G>T (p.Val1701=) c.5136G>T (p.Val1712=) c.1527G>T n.3186G>T c.3958G>T c.5163G>T (p.Val1721=) n.901G>T c.5106G>T (p.Val1702=) c.5172G>T (p.Val1724=) c.5097G>T (p.Val1699=) n.2952G>T c.5229G>T (p.Val1743=) c.5175G>T (p.Val1725=) c.5190G>T (p.Val1730=) c.5100G>T (p.Val1700=) c.5225G>T n.3388G>T c.5298G>T (p.Val1766=) n.4119G>T n.2556G>T n.2527G>T n.2417G>T c.4959G>T (p.Val1653=) c.*4471G>T (n.*4471G>T) c.4995G>T (p.Val1665=) n.3027G>T c.1486G>T n.2419G>T c.5358G>T (p.Val1786=) c.5355G>T (p.Val1785=) c.5247G>T (p.Val1749=) c.5226G>T (p.Val1742=) c.4572G>T (p.Val1524=) c.5520G>T (p.Val1840=) c.5268G>T (p.Val1756=) c.4014G>T (p.Val1338=) | |
16 | g.2088491C>A | CA394315375 | TSC2 | c.*3654C>A (n.*3654C>A) c.5152C>A (p.His1718Asn) c.5302C>A (p.His1768Asn) c.*5818C>A (n.*5818C>A) c.*8054C>A (n.*8054C>A) c.5305C>A (p.His1769Asn) c.5236C>A (p.His1746Asn) c.5104C>A (p.His1702Asn) c.5137C>A (p.His1713Asn) c.1528C>A n.3187C>A c.3959C>A c.5164C>A (p.His1722Asn) n.902C>A c.5107C>A (p.His1703Asn) c.5173C>A (p.His1725Asn) c.5098C>A (p.His1700Asn) n.2953C>A c.5230C>A (p.His1744Asn) c.5176C>A (p.His1726Asn) c.5191C>A (p.His1731Asn) c.5101C>A (p.His1701Asn) c.5226C>A n.3389C>A c.5299C>A (p.His1767Asn) n.4120C>A n.2557C>A n.2528C>A n.2418C>A c.4960C>A (p.His1654Asn) c.*4472C>A (n.*4472C>A) c.4996C>A (p.His1666Asn) n.3028C>A c.1487C>A n.2420C>A c.5359C>A (p.His1787Asn) c.5356C>A (p.His1786Asn) c.5248C>A (p.His1750Asn) c.5227C>A (p.His1743Asn) c.4573C>A (p.His1525Asn) c.5521C>A (p.His1841Asn) c.5269C>A (p.His1757Asn) c.4015C>A (p.His1339Asn) | |
16 | g.2088491C= | CA2202033623 | TSC2 | c.*3654C= (n.*3654C=) c.5152C= (p.His1718=) c.5302C= (p.His1768=) c.*5818C= (n.*5818C=) c.*8054C= (n.*8054C=) c.5305C= (p.His1769=) c.5236C= (p.His1746=) c.5104C= (p.His1702=) c.5137C= (p.His1713=) c.1528C= n.3187C= c.3959C= c.5164C= (p.His1722=) n.902C= c.5107C= (p.His1703=) c.5173C= (p.His1725=) c.5098C= (p.His1700=) n.2953C= c.5230C= (p.His1744=) c.5176C= (p.His1726=) c.5191C= (p.His1731=) c.5101C= (p.His1701=) c.5226C= n.3389C= c.5299C= (p.His1767=) n.4120C= n.2557C= n.2528C= n.2418C= c.4960C= (p.His1654=) c.*4472C= (n.*4472C=) c.4996C= (p.His1666=) n.3028C= c.1487C= n.2420C= c.5359C= (p.His1787=) c.5356C= (p.His1786=) c.5248C= (p.His1750=) c.5227C= (p.His1743=) c.4573C= (p.His1525=) c.5521C= (p.His1841=) c.5269C= (p.His1757=) c.4015C= (p.His1339=) | |
16 | g.2088491C>G | CA394315379 | TSC2 | c.*3654C>G (n.*3654C>G) c.5152C>G (p.His1718Asp) c.5302C>G (p.His1768Asp) c.*5818C>G (n.*5818C>G) c.*8054C>G (n.*8054C>G) c.5305C>G (p.His1769Asp) c.5236C>G (p.His1746Asp) c.5104C>G (p.His1702Asp) c.5137C>G (p.His1713Asp) c.1528C>G n.3187C>G c.3959C>G c.5164C>G (p.His1722Asp) n.902C>G c.5107C>G (p.His1703Asp) c.5173C>G (p.His1725Asp) c.5098C>G (p.His1700Asp) n.2953C>G c.5230C>G (p.His1744Asp) c.5176C>G (p.His1726Asp) c.5191C>G (p.His1731Asp) c.5101C>G (p.His1701Asp) c.5226C>G n.3389C>G c.5299C>G (p.His1767Asp) n.4120C>G n.2557C>G n.2528C>G n.2418C>G c.4960C>G (p.His1654Asp) c.*4472C>G (n.*4472C>G) c.4996C>G (p.His1666Asp) n.3028C>G c.1487C>G n.2420C>G c.5359C>G (p.His1787Asp) c.5356C>G (p.His1786Asp) c.5248C>G (p.His1750Asp) c.5227C>G (p.His1743Asp) c.4573C>G (p.His1525Asp) c.5521C>G (p.His1841Asp) c.5269C>G (p.His1757Asp) c.4015C>G (p.His1339Asp) | |
16 | g.2088491C>T | CA394315380 | TSC2 | c.*3654C>T (n.*3654C>T) c.5152C>T (p.His1718Tyr) c.5302C>T (p.His1768Tyr) c.*5818C>T (n.*5818C>T) c.*8054C>T (n.*8054C>T) c.5305C>T (p.His1769Tyr) c.5236C>T (p.His1746Tyr) c.5104C>T (p.His1702Tyr) c.5137C>T (p.His1713Tyr) c.1528C>T n.3187C>T c.3959C>T c.5164C>T (p.His1722Tyr) n.902C>T c.5107C>T (p.His1703Tyr) c.5173C>T (p.His1725Tyr) c.5098C>T (p.His1700Tyr) n.2953C>T c.5230C>T (p.His1744Tyr) c.5176C>T (p.His1726Tyr) c.5191C>T (p.His1731Tyr) c.5101C>T (p.His1701Tyr) c.5226C>T n.3389C>T c.5299C>T (p.His1767Tyr) n.4120C>T n.2557C>T n.2528C>T n.2418C>T c.4960C>T (p.His1654Tyr) c.*4472C>T (n.*4472C>T) c.4996C>T (p.His1666Tyr) n.3028C>T c.1487C>T n.2420C>T c.5359C>T (p.His1787Tyr) c.5356C>T (p.His1786Tyr) c.5248C>T (p.His1750Tyr) c.5227C>T (p.His1743Tyr) c.4573C>T (p.His1525Tyr) c.5521C>T (p.His1841Tyr) c.5269C>T (p.His1757Tyr) c.4015C>T (p.His1339Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088492A= | CA2202033632 | TSC2 | c.*3655A= (n.*3655A=) c.5153A= (p.His1718=) c.5303A= (p.His1768=) c.*5819A= (n.*5819A=) c.*8055A= (n.*8055A=) c.5306A= (p.His1769=) c.5237A= (p.His1746=) c.5105A= (p.His1702=) c.5138A= (p.His1713=) c.1529A= n.3188A= c.3960A= c.5165A= (p.His1722=) n.903A= c.5108A= (p.His1703=) c.5174A= (p.His1725=) c.5099A= (p.His1700=) n.2954A= c.5231A= (p.His1744=) c.5177A= (p.His1726=) c.5192A= (p.His1731=) c.5102A= (p.His1701=) c.5227A= n.3390A= c.5300A= (p.His1767=) n.4121A= n.2558A= n.2529A= n.2419A= c.4961A= (p.His1654=) c.*4473A= (n.*4473A=) c.4997A= (p.His1666=) n.3029A= c.1488A= n.2421A= c.5360A= (p.His1787=) c.5357A= (p.His1786=) c.5249A= (p.His1750=) c.5228A= (p.His1743=) c.4574A= (p.His1525=) c.5522A= (p.His1841=) c.5270A= (p.His1757=) c.4016A= (p.His1339=) | |
16 | g.2088492A>C | CA394315384 | TSC2 | c.*3655A>C (n.*3655A>C) c.5153A>C (p.His1718Pro) c.5303A>C (p.His1768Pro) c.*5819A>C (n.*5819A>C) c.*8055A>C (n.*8055A>C) c.5306A>C (p.His1769Pro) c.5237A>C (p.His1746Pro) c.5105A>C (p.His1702Pro) c.5138A>C (p.His1713Pro) c.1529A>C n.3188A>C c.3960A>C c.5165A>C (p.His1722Pro) n.903A>C c.5108A>C (p.His1703Pro) c.5174A>C (p.His1725Pro) c.5099A>C (p.His1700Pro) n.2954A>C c.5231A>C (p.His1744Pro) c.5177A>C (p.His1726Pro) c.5192A>C (p.His1731Pro) c.5102A>C (p.His1701Pro) c.5227A>C n.3390A>C c.5300A>C (p.His1767Pro) n.4121A>C n.2558A>C n.2529A>C n.2419A>C c.4961A>C (p.His1654Pro) c.*4473A>C (n.*4473A>C) c.4997A>C (p.His1666Pro) n.3029A>C c.1488A>C n.2421A>C c.5360A>C (p.His1787Pro) c.5357A>C (p.His1786Pro) c.5249A>C (p.His1750Pro) c.5228A>C (p.His1743Pro) c.4574A>C (p.His1525Pro) c.5522A>C (p.His1841Pro) c.5270A>C (p.His1757Pro) c.4016A>C (p.His1339Pro) | |
16 | g.2088492A>G | CA394315386 | TSC2 | c.*3655A>G (n.*3655A>G) c.5153A>G (p.His1718Arg) c.5303A>G (p.His1768Arg) c.*5819A>G (n.*5819A>G) c.*8055A>G (n.*8055A>G) c.5306A>G (p.His1769Arg) c.5237A>G (p.His1746Arg) c.5105A>G (p.His1702Arg) c.5138A>G (p.His1713Arg) c.1529A>G n.3188A>G c.3960A>G c.5165A>G (p.His1722Arg) n.903A>G c.5108A>G (p.His1703Arg) c.5174A>G (p.His1725Arg) c.5099A>G (p.His1700Arg) n.2954A>G c.5231A>G (p.His1744Arg) c.5177A>G (p.His1726Arg) c.5192A>G (p.His1731Arg) c.5102A>G (p.His1701Arg) c.5227A>G n.3390A>G c.5300A>G (p.His1767Arg) n.4121A>G n.2558A>G n.2529A>G n.2419A>G c.4961A>G (p.His1654Arg) c.*4473A>G (n.*4473A>G) c.4997A>G (p.His1666Arg) n.3029A>G c.1488A>G n.2421A>G c.5360A>G (p.His1787Arg) c.5357A>G (p.His1786Arg) c.5249A>G (p.His1750Arg) c.5228A>G (p.His1743Arg) c.4574A>G (p.His1525Arg) c.5522A>G (p.His1841Arg) c.5270A>G (p.His1757Arg) c.4016A>G (p.His1339Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.2088492A>T | CA394315381 | TSC2 | c.*3655A>T (n.*3655A>T) c.5153A>T (p.His1718Leu) c.5303A>T (p.His1768Leu) c.*5819A>T (n.*5819A>T) c.*8055A>T (n.*8055A>T) c.5306A>T (p.His1769Leu) c.5237A>T (p.His1746Leu) c.5105A>T (p.His1702Leu) c.5138A>T (p.His1713Leu) c.1529A>T n.3188A>T c.3960A>T c.5165A>T (p.His1722Leu) n.903A>T c.5108A>T (p.His1703Leu) c.5174A>T (p.His1725Leu) c.5099A>T (p.His1700Leu) n.2954A>T c.5231A>T (p.His1744Leu) c.5177A>T (p.His1726Leu) c.5192A>T (p.His1731Leu) c.5102A>T (p.His1701Leu) c.5227A>T n.3390A>T c.5300A>T (p.His1767Leu) n.4121A>T n.2558A>T n.2529A>T n.2419A>T c.4961A>T (p.His1654Leu) c.*4473A>T (n.*4473A>T) c.4997A>T (p.His1666Leu) n.3029A>T c.1488A>T n.2421A>T c.5360A>T (p.His1787Leu) c.5357A>T (p.His1786Leu) c.5249A>T (p.His1750Leu) c.5228A>T (p.His1743Leu) c.4574A>T (p.His1525Leu) c.5522A>T (p.His1841Leu) c.5270A>T (p.His1757Leu) c.4016A>T (p.His1339Leu) | |
16 | g.2088493C>A | CA394315387 | TSC2 | c.*3656C>A (n.*3656C>A) c.5154C>A (p.His1718Gln) c.5304C>A (p.His1768Gln) c.*5820C>A (n.*5820C>A) c.*8056C>A (n.*8056C>A) c.5307C>A (p.His1769Gln) c.5238C>A (p.His1746Gln) c.5106C>A (p.His1702Gln) c.5139C>A (p.His1713Gln) c.1530C>A n.3189C>A c.3961C>A c.5166C>A (p.His1722Gln) n.904C>A c.5109C>A (p.His1703Gln) c.5175C>A (p.His1725Gln) c.5100C>A (p.His1700Gln) n.2955C>A c.5232C>A (p.His1744Gln) c.5178C>A (p.His1726Gln) c.5193C>A (p.His1731Gln) c.5103C>A (p.His1701Gln) c.5228C>A n.3391C>A c.5301C>A (p.His1767Gln) n.4122C>A n.2559C>A n.2530C>A n.2420C>A c.4962C>A (p.His1654Gln) c.*4474C>A (n.*4474C>A) c.4998C>A (p.His1666Gln) n.3030C>A c.1489C>A n.2422C>A c.5361C>A (p.His1787Gln) c.5358C>A (p.His1786Gln) c.5250C>A (p.His1750Gln) c.5229C>A (p.His1743Gln) c.4575C>A (p.His1525Gln) c.5523C>A (p.His1841Gln) c.5271C>A (p.His1757Gln) c.4017C>A (p.His1339Gln) | gnomAD v4 |
16 | g.2088493C= | CA2202033643 | TSC2 | c.*3656C= (n.*3656C=) c.5154C= (p.His1718=) c.5304C= (p.His1768=) c.*5820C= (n.*5820C=) c.*8056C= (n.*8056C=) c.5307C= (p.His1769=) c.5238C= (p.His1746=) c.5106C= (p.His1702=) c.5139C= (p.His1713=) c.1530C= n.3189C= c.3961C= c.5166C= (p.His1722=) n.904C= c.5109C= (p.His1703=) c.5175C= (p.His1725=) c.5100C= (p.His1700=) n.2955C= c.5232C= (p.His1744=) c.5178C= (p.His1726=) c.5193C= (p.His1731=) c.5103C= (p.His1701=) c.5228C= n.3391C= c.5301C= (p.His1767=) n.4122C= n.2559C= n.2530C= n.2420C= c.4962C= (p.His1654=) c.*4474C= (n.*4474C=) c.4998C= (p.His1666=) n.3030C= c.1489C= n.2422C= c.5361C= (p.His1787=) c.5358C= (p.His1786=) c.5250C= (p.His1750=) c.5229C= (p.His1743=) c.4575C= (p.His1525=) c.5523C= (p.His1841=) c.5271C= (p.His1757=) c.4017C= (p.His1339=) | |
16 | g.2088493C>G | CA394315391 | TSC2 | c.*3656C>G (n.*3656C>G) c.5154C>G (p.His1718Gln) c.5304C>G (p.His1768Gln) c.*5820C>G (n.*5820C>G) c.*8056C>G (n.*8056C>G) c.5307C>G (p.His1769Gln) c.5238C>G (p.His1746Gln) c.5106C>G (p.His1702Gln) c.5139C>G (p.His1713Gln) c.1530C>G n.3189C>G c.3961C>G c.5166C>G (p.His1722Gln) n.904C>G c.5109C>G (p.His1703Gln) c.5175C>G (p.His1725Gln) c.5100C>G (p.His1700Gln) n.2955C>G c.5232C>G (p.His1744Gln) c.5178C>G (p.His1726Gln) c.5193C>G (p.His1731Gln) c.5103C>G (p.His1701Gln) c.5228C>G n.3391C>G c.5301C>G (p.His1767Gln) n.4122C>G n.2559C>G n.2530C>G n.2420C>G c.4962C>G (p.His1654Gln) c.*4474C>G (n.*4474C>G) c.4998C>G (p.His1666Gln) n.3030C>G c.1489C>G n.2422C>G c.5361C>G (p.His1787Gln) c.5358C>G (p.His1786Gln) c.5250C>G (p.His1750Gln) c.5229C>G (p.His1743Gln) c.4575C>G (p.His1525Gln) c.5523C>G (p.His1841Gln) c.5271C>G (p.His1757Gln) c.4017C>G (p.His1339Gln) | ClinVar dbSNP |
16 | g.2088493C>T | CA055008 | TSC2 | c.*3656C>T (n.*3656C>T) c.5154C>T (p.His1718=) c.5304C>T (p.His1768=) c.*5820C>T (n.*5820C>T) c.*8056C>T (n.*8056C>T) c.5307C>T (p.His1769=) c.5238C>T (p.His1746=) c.5106C>T (p.His1702=) c.5139C>T (p.His1713=) c.1530C>T n.3189C>T c.3961C>T c.5166C>T (p.His1722=) n.904C>T c.5109C>T (p.His1703=) c.5175C>T (p.His1725=) c.5100C>T (p.His1700=) n.2955C>T c.5232C>T (p.His1744=) c.5178C>T (p.His1726=) c.5193C>T (p.His1731=) c.5103C>T (p.His1701=) c.5228C>T n.3391C>T c.5301C>T (p.His1767=) n.4122C>T n.2559C>T n.2530C>T n.2420C>T c.4962C>T (p.His1654=) c.*4474C>T (n.*4474C>T) c.4998C>T (p.His1666=) n.3030C>T c.1489C>T n.2422C>T c.5361C>T (p.His1787=) c.5358C>T (p.His1786=) c.5250C>T (p.His1750=) c.5229C>T (p.His1743=) c.4575C>T (p.His1525=) c.5523C>T (p.His1841=) c.5271C>T (p.His1757=) c.4017C>T (p.His1339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088494C>A | CA394315399 | TSC2 | c.*3657C>A (n.*3657C>A) c.5155C>A (p.Pro1719Thr) c.5305C>A (p.Pro1769Thr) c.*5821C>A (n.*5821C>A) c.*8057C>A (n.*8057C>A) c.5308C>A (p.Pro1770Thr) c.5239C>A (p.Pro1747Thr) c.5107C>A (p.Pro1703Thr) c.5140C>A (p.Pro1714Thr) c.1531C>A n.3190C>A c.3962C>A c.5167C>A (p.Pro1723Thr) n.905C>A c.5110C>A (p.Pro1704Thr) c.5176C>A (p.Pro1726Thr) c.5101C>A (p.Pro1701Thr) n.2956C>A c.5233C>A (p.Pro1745Thr) c.5179C>A (p.Pro1727Thr) c.5194C>A (p.Pro1732Thr) c.5104C>A (p.Pro1702Thr) c.5229C>A n.3392C>A c.5302C>A (p.Pro1768Thr) n.4123C>A n.2560C>A n.2531C>A n.2421C>A c.4963C>A (p.Pro1655Thr) c.*4475C>A (n.*4475C>A) c.4999C>A (p.Pro1667Thr) n.3031C>A c.1490C>A n.2423C>A c.5362C>A (p.Pro1788Thr) c.5359C>A (p.Pro1787Thr) c.5251C>A (p.Pro1751Thr) c.5230C>A (p.Pro1744Thr) c.4576C>A (p.Pro1526Thr) c.5524C>A (p.Pro1842Thr) c.5272C>A (p.Pro1758Thr) c.4018C>A (p.Pro1340Thr) | ClinVar |
16 | g.2088494C= | CA2202033648 | TSC2 | c.*3657C= (n.*3657C=) c.5155C= (p.Pro1719=) c.5305C= (p.Pro1769=) c.*5821C= (n.*5821C=) c.*8057C= (n.*8057C=) c.5308C= (p.Pro1770=) c.5239C= (p.Pro1747=) c.5107C= (p.Pro1703=) c.5140C= (p.Pro1714=) c.1531C= n.3190C= c.3962C= c.5167C= (p.Pro1723=) n.905C= c.5110C= (p.Pro1704=) c.5176C= (p.Pro1726=) c.5101C= (p.Pro1701=) n.2956C= c.5233C= (p.Pro1745=) c.5179C= (p.Pro1727=) c.5194C= (p.Pro1732=) c.5104C= (p.Pro1702=) c.5229C= n.3392C= c.5302C= (p.Pro1768=) n.4123C= n.2560C= n.2531C= n.2421C= c.4963C= (p.Pro1655=) c.*4475C= (n.*4475C=) c.4999C= (p.Pro1667=) n.3031C= c.1490C= n.2423C= c.5362C= (p.Pro1788=) c.5359C= (p.Pro1787=) c.5251C= (p.Pro1751=) c.5230C= (p.Pro1744=) c.4576C= (p.Pro1526=) c.5524C= (p.Pro1842=) c.5272C= (p.Pro1758=) c.4018C= (p.Pro1340=) | |
16 | g.2088494C>G | CA394315402 | TSC2 | c.*3657C>G (n.*3657C>G) c.5155C>G (p.Pro1719Ala) c.5305C>G (p.Pro1769Ala) c.*5821C>G (n.*5821C>G) c.*8057C>G (n.*8057C>G) c.5308C>G (p.Pro1770Ala) c.5239C>G (p.Pro1747Ala) c.5107C>G (p.Pro1703Ala) c.5140C>G (p.Pro1714Ala) c.1531C>G n.3190C>G c.3962C>G c.5167C>G (p.Pro1723Ala) n.905C>G c.5110C>G (p.Pro1704Ala) c.5176C>G (p.Pro1726Ala) c.5101C>G (p.Pro1701Ala) n.2956C>G c.5233C>G (p.Pro1745Ala) c.5179C>G (p.Pro1727Ala) c.5194C>G (p.Pro1732Ala) c.5104C>G (p.Pro1702Ala) c.5229C>G n.3392C>G c.5302C>G (p.Pro1768Ala) n.4123C>G n.2560C>G n.2531C>G n.2421C>G c.4963C>G (p.Pro1655Ala) c.*4475C>G (n.*4475C>G) c.4999C>G (p.Pro1667Ala) n.3031C>G c.1490C>G n.2423C>G c.5362C>G (p.Pro1788Ala) c.5359C>G (p.Pro1787Ala) c.5251C>G (p.Pro1751Ala) c.5230C>G (p.Pro1744Ala) c.4576C>G (p.Pro1526Ala) c.5524C>G (p.Pro1842Ala) c.5272C>G (p.Pro1758Ala) c.4018C>G (p.Pro1340Ala) | |
16 | g.2088494C>T | CA055015 | TSC2 | c.*3657C>T (n.*3657C>T) c.5155C>T (p.Pro1719Ser) c.5305C>T (p.Pro1769Ser) c.*5821C>T (n.*5821C>T) c.*8057C>T (n.*8057C>T) c.5308C>T (p.Pro1770Ser) c.5239C>T (p.Pro1747Ser) c.5107C>T (p.Pro1703Ser) c.5140C>T (p.Pro1714Ser) c.1531C>T n.3190C>T c.3962C>T c.5167C>T (p.Pro1723Ser) n.905C>T c.5110C>T (p.Pro1704Ser) c.5176C>T (p.Pro1726Ser) c.5101C>T (p.Pro1701Ser) n.2956C>T c.5233C>T (p.Pro1745Ser) c.5179C>T (p.Pro1727Ser) c.5194C>T (p.Pro1732Ser) c.5104C>T (p.Pro1702Ser) c.5229C>T n.3392C>T c.5302C>T (p.Pro1768Ser) n.4123C>T n.2560C>T n.2531C>T n.2421C>T c.4963C>T (p.Pro1655Ser) c.*4475C>T (n.*4475C>T) c.4999C>T (p.Pro1667Ser) n.3031C>T c.1490C>T n.2423C>T c.5362C>T (p.Pro1788Ser) c.5359C>T (p.Pro1787Ser) c.5251C>T (p.Pro1751Ser) c.5230C>T (p.Pro1744Ser) c.4576C>T (p.Pro1526Ser) c.5524C>T (p.Pro1842Ser) c.5272C>T (p.Pro1758Ser) c.4018C>T (p.Pro1340Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088495C>A | CA394315405 | TSC2 | c.*3658C>A (n.*3658C>A) c.5156C>A (p.Pro1719His) c.5306C>A (p.Pro1769His) c.*5822C>A (n.*5822C>A) c.*8058C>A (n.*8058C>A) c.5309C>A (p.Pro1770His) c.5240C>A (p.Pro1747His) c.5108C>A (p.Pro1703His) c.5141C>A (p.Pro1714His) c.1532C>A n.3191C>A c.3963C>A c.5168C>A (p.Pro1723His) n.906C>A c.5111C>A (p.Pro1704His) c.5177C>A (p.Pro1726His) c.5102C>A (p.Pro1701His) n.2957C>A c.5234C>A (p.Pro1745His) c.5180C>A (p.Pro1727His) c.5195C>A (p.Pro1732His) c.5105C>A (p.Pro1702His) c.5230C>A n.3393C>A c.5303C>A (p.Pro1768His) n.4124C>A n.2561C>A n.2532C>A n.2422C>A c.4964C>A (p.Pro1655His) c.*4476C>A (n.*4476C>A) c.5000C>A (p.Pro1667His) n.3032C>A c.1491C>A n.2424C>A c.5363C>A (p.Pro1788His) c.5360C>A (p.Pro1787His) c.5252C>A (p.Pro1751His) c.5231C>A (p.Pro1744His) c.4577C>A (p.Pro1526His) c.5525C>A (p.Pro1842His) c.5273C>A (p.Pro1758His) c.4019C>A (p.Pro1340His) | dbSNP |
16 | g.2088495C= | CA2202033657 | TSC2 | c.*3658C= (n.*3658C=) c.5156C= (p.Pro1719=) c.5306C= (p.Pro1769=) c.*5822C= (n.*5822C=) c.*8058C= (n.*8058C=) c.5309C= (p.Pro1770=) c.5240C= (p.Pro1747=) c.5108C= (p.Pro1703=) c.5141C= (p.Pro1714=) c.1532C= n.3191C= c.3963C= c.5168C= (p.Pro1723=) n.906C= c.5111C= (p.Pro1704=) c.5177C= (p.Pro1726=) c.5102C= (p.Pro1701=) n.2957C= c.5234C= (p.Pro1745=) c.5180C= (p.Pro1727=) c.5195C= (p.Pro1732=) c.5105C= (p.Pro1702=) c.5230C= n.3393C= c.5303C= (p.Pro1768=) n.4124C= n.2561C= n.2532C= n.2422C= c.4964C= (p.Pro1655=) c.*4476C= (n.*4476C=) c.5000C= (p.Pro1667=) n.3032C= c.1491C= n.2424C= c.5363C= (p.Pro1788=) c.5360C= (p.Pro1787=) c.5252C= (p.Pro1751=) c.5231C= (p.Pro1744=) c.4577C= (p.Pro1526=) c.5525C= (p.Pro1842=) c.5273C= (p.Pro1758=) c.4019C= (p.Pro1340=) | |
16 | g.2088495C>G | CA055029 | TSC2 | c.*3658C>G (n.*3658C>G) c.5156C>G (p.Pro1719Arg) c.5306C>G (p.Pro1769Arg) c.*5822C>G (n.*5822C>G) c.*8058C>G (n.*8058C>G) c.5309C>G (p.Pro1770Arg) c.5240C>G (p.Pro1747Arg) c.5108C>G (p.Pro1703Arg) c.5141C>G (p.Pro1714Arg) c.1532C>G n.3191C>G c.3963C>G c.5168C>G (p.Pro1723Arg) n.906C>G c.5111C>G (p.Pro1704Arg) c.5177C>G (p.Pro1726Arg) c.5102C>G (p.Pro1701Arg) n.2957C>G c.5234C>G (p.Pro1745Arg) c.5180C>G (p.Pro1727Arg) c.5195C>G (p.Pro1732Arg) c.5105C>G (p.Pro1702Arg) c.5230C>G n.3393C>G c.5303C>G (p.Pro1768Arg) n.4124C>G n.2561C>G n.2532C>G n.2422C>G c.4964C>G (p.Pro1655Arg) c.*4476C>G (n.*4476C>G) c.5000C>G (p.Pro1667Arg) n.3032C>G c.1491C>G n.2424C>G c.5363C>G (p.Pro1788Arg) c.5360C>G (p.Pro1787Arg) c.5252C>G (p.Pro1751Arg) c.5231C>G (p.Pro1744Arg) c.4577C>G (p.Pro1526Arg) c.5525C>G (p.Pro1842Arg) c.5273C>G (p.Pro1758Arg) c.4019C>G (p.Pro1340Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088495C>T | CA394315411 | TSC2 | c.*3658C>T (n.*3658C>T) c.5156C>T (p.Pro1719Leu) c.5306C>T (p.Pro1769Leu) c.*5822C>T (n.*5822C>T) c.*8058C>T (n.*8058C>T) c.5309C>T (p.Pro1770Leu) c.5240C>T (p.Pro1747Leu) c.5108C>T (p.Pro1703Leu) c.5141C>T (p.Pro1714Leu) c.1532C>T n.3191C>T c.3963C>T c.5168C>T (p.Pro1723Leu) n.906C>T c.5111C>T (p.Pro1704Leu) c.5177C>T (p.Pro1726Leu) c.5102C>T (p.Pro1701Leu) n.2957C>T c.5234C>T (p.Pro1745Leu) c.5180C>T (p.Pro1727Leu) c.5195C>T (p.Pro1732Leu) c.5105C>T (p.Pro1702Leu) c.5230C>T n.3393C>T c.5303C>T (p.Pro1768Leu) n.4124C>T n.2561C>T n.2532C>T n.2422C>T c.4964C>T (p.Pro1655Leu) c.*4476C>T (n.*4476C>T) c.5000C>T (p.Pro1667Leu) n.3032C>T c.1491C>T n.2424C>T c.5363C>T (p.Pro1788Leu) c.5360C>T (p.Pro1787Leu) c.5252C>T (p.Pro1751Leu) c.5231C>T (p.Pro1744Leu) c.4577C>T (p.Pro1526Leu) c.5525C>T (p.Pro1842Leu) c.5273C>T (p.Pro1758Leu) c.4019C>T (p.Pro1340Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088496T>A | CA493043692 | TSC2 | c.*3659T>A (n.*3659T>A) c.5157T>A (p.Pro1719=) c.5307T>A (p.Pro1769=) c.*5823T>A (n.*5823T>A) c.*8059T>A (n.*8059T>A) c.5310T>A (p.Pro1770=) c.5241T>A (p.Pro1747=) c.5109T>A (p.Pro1703=) c.5142T>A (p.Pro1714=) c.1533T>A n.3192T>A c.3964T>A c.5169T>A (p.Pro1723=) n.907T>A c.5112T>A (p.Pro1704=) c.5178T>A (p.Pro1726=) c.5103T>A (p.Pro1701=) n.2958T>A c.5235T>A (p.Pro1745=) c.5181T>A (p.Pro1727=) c.5196T>A (p.Pro1732=) c.5106T>A (p.Pro1702=) c.5231T>A n.3394T>A c.5304T>A (p.Pro1768=) n.4125T>A n.2562T>A n.2533T>A n.2423T>A c.4965T>A (p.Pro1655=) c.*4477T>A (n.*4477T>A) c.5001T>A (p.Pro1667=) n.3033T>A c.1492T>A n.2425T>A c.5364T>A (p.Pro1788=) c.5361T>A (p.Pro1787=) c.5253T>A (p.Pro1751=) c.5232T>A (p.Pro1744=) c.4578T>A (p.Pro1526=) c.5526T>A (p.Pro1842=) c.5274T>A (p.Pro1758=) c.4020T>A (p.Pro1340=) | gnomAD v4 |
16 | g.2088496T>C | CA493043694 | TSC2 | c.*3659T>C (n.*3659T>C) c.5157T>C (p.Pro1719=) c.5307T>C (p.Pro1769=) c.*5823T>C (n.*5823T>C) c.*8059T>C (n.*8059T>C) c.5310T>C (p.Pro1770=) c.5241T>C (p.Pro1747=) c.5109T>C (p.Pro1703=) c.5142T>C (p.Pro1714=) c.1533T>C n.3192T>C c.3964T>C c.5169T>C (p.Pro1723=) n.907T>C c.5112T>C (p.Pro1704=) c.5178T>C (p.Pro1726=) c.5103T>C (p.Pro1701=) n.2958T>C c.5235T>C (p.Pro1745=) c.5181T>C (p.Pro1727=) c.5196T>C (p.Pro1732=) c.5106T>C (p.Pro1702=) c.5231T>C n.3394T>C c.5304T>C (p.Pro1768=) n.4125T>C n.2562T>C n.2533T>C n.2423T>C c.4965T>C (p.Pro1655=) c.*4477T>C (n.*4477T>C) c.5001T>C (p.Pro1667=) n.3033T>C c.1492T>C n.2425T>C c.5364T>C (p.Pro1788=) c.5361T>C (p.Pro1787=) c.5253T>C (p.Pro1751=) c.5232T>C (p.Pro1744=) c.4578T>C (p.Pro1526=) c.5526T>C (p.Pro1842=) c.5274T>C (p.Pro1758=) c.4020T>C (p.Pro1340=) | |
16 | g.2088496T>G | CA493043693 | TSC2 | c.*3659T>G (n.*3659T>G) c.5157T>G (p.Pro1719=) c.5307T>G (p.Pro1769=) c.*5823T>G (n.*5823T>G) c.*8059T>G (n.*8059T>G) c.5310T>G (p.Pro1770=) c.5241T>G (p.Pro1747=) c.5109T>G (p.Pro1703=) c.5142T>G (p.Pro1714=) c.1533T>G n.3192T>G c.3964T>G c.5169T>G (p.Pro1723=) n.907T>G c.5112T>G (p.Pro1704=) c.5178T>G (p.Pro1726=) c.5103T>G (p.Pro1701=) n.2958T>G c.5235T>G (p.Pro1745=) c.5181T>G (p.Pro1727=) c.5196T>G (p.Pro1732=) c.5106T>G (p.Pro1702=) c.5231T>G n.3394T>G c.5304T>G (p.Pro1768=) n.4125T>G n.2562T>G n.2533T>G n.2423T>G c.4965T>G (p.Pro1655=) c.*4477T>G (n.*4477T>G) c.5001T>G (p.Pro1667=) n.3033T>G c.1492T>G n.2425T>G c.5364T>G (p.Pro1788=) c.5361T>G (p.Pro1787=) c.5253T>G (p.Pro1751=) c.5232T>G (p.Pro1744=) c.4578T>G (p.Pro1526=) c.5526T>G (p.Pro1842=) c.5274T>G (p.Pro1758=) c.4020T>G (p.Pro1340=) | |
16 | g.2088497C>A | CA394315421 | TSC2 | c.*3660C>A (n.*3660C>A) c.5158C>A (p.Pro1720Thr) c.5308C>A (p.Pro1770Thr) c.*5824C>A (n.*5824C>A) c.*8060C>A (n.*8060C>A) c.5311C>A (p.Pro1771Thr) c.5242C>A (p.Pro1748Thr) c.5110C>A (p.Pro1704Thr) c.5143C>A (p.Pro1715Thr) c.1534C>A n.3193C>A c.3965C>A c.5170C>A (p.Pro1724Thr) n.908C>A c.5113C>A (p.Pro1705Thr) c.5179C>A (p.Pro1727Thr) c.5104C>A (p.Pro1702Thr) n.2959C>A c.5236C>A (p.Pro1746Thr) c.5182C>A (p.Pro1728Thr) c.5197C>A (p.Pro1733Thr) c.5107C>A (p.Pro1703Thr) c.5232C>A n.3395C>A c.5305C>A (p.Pro1769Thr) n.4126C>A n.2563C>A n.2534C>A n.2424C>A c.4966C>A (p.Pro1656Thr) c.*4478C>A (n.*4478C>A) c.5002C>A (p.Pro1668Thr) n.3034C>A c.1493C>A n.2426C>A c.5365C>A (p.Pro1789Thr) c.5362C>A (p.Pro1788Thr) c.5254C>A (p.Pro1752Thr) c.5233C>A (p.Pro1745Thr) c.4579C>A (p.Pro1527Thr) c.5527C>A (p.Pro1843Thr) c.5275C>A (p.Pro1759Thr) c.4021C>A (p.Pro1341Thr) | ClinVar dbSNP |
16 | g.2088497C= | CA2202033696 | TSC2 | c.*3660C= (n.*3660C=) c.5158C= (p.Pro1720=) c.5308C= (p.Pro1770=) c.*5824C= (n.*5824C=) c.*8060C= (n.*8060C=) c.5311C= (p.Pro1771=) c.5242C= (p.Pro1748=) c.5110C= (p.Pro1704=) c.5143C= (p.Pro1715=) c.1534C= n.3193C= c.3965C= c.5170C= (p.Pro1724=) n.908C= c.5113C= (p.Pro1705=) c.5179C= (p.Pro1727=) c.5104C= (p.Pro1702=) n.2959C= c.5236C= (p.Pro1746=) c.5182C= (p.Pro1728=) c.5197C= (p.Pro1733=) c.5107C= (p.Pro1703=) c.5232C= n.3395C= c.5305C= (p.Pro1769=) n.4126C= n.2563C= n.2534C= n.2424C= c.4966C= (p.Pro1656=) c.*4478C= (n.*4478C=) c.5002C= (p.Pro1668=) n.3034C= c.1493C= n.2426C= c.5365C= (p.Pro1789=) c.5362C= (p.Pro1788=) c.5254C= (p.Pro1752=) c.5233C= (p.Pro1745=) c.4579C= (p.Pro1527=) c.5527C= (p.Pro1843=) c.5275C= (p.Pro1759=) c.4021C= (p.Pro1341=) | |
16 | g.2088497C>G | CA055040 | TSC2 | c.*3660C>G (n.*3660C>G) c.5158C>G (p.Pro1720Ala) c.5308C>G (p.Pro1770Ala) c.*5824C>G (n.*5824C>G) c.*8060C>G (n.*8060C>G) c.5311C>G (p.Pro1771Ala) c.5242C>G (p.Pro1748Ala) c.5110C>G (p.Pro1704Ala) c.5143C>G (p.Pro1715Ala) c.1534C>G n.3193C>G c.3965C>G c.5170C>G (p.Pro1724Ala) n.908C>G c.5113C>G (p.Pro1705Ala) c.5179C>G (p.Pro1727Ala) c.5104C>G (p.Pro1702Ala) n.2959C>G c.5236C>G (p.Pro1746Ala) c.5182C>G (p.Pro1728Ala) c.5197C>G (p.Pro1733Ala) c.5107C>G (p.Pro1703Ala) c.5232C>G n.3395C>G c.5305C>G (p.Pro1769Ala) n.4126C>G n.2563C>G n.2534C>G n.2424C>G c.4966C>G (p.Pro1656Ala) c.*4478C>G (n.*4478C>G) c.5002C>G (p.Pro1668Ala) n.3034C>G c.1493C>G n.2426C>G c.5365C>G (p.Pro1789Ala) c.5362C>G (p.Pro1788Ala) c.5254C>G (p.Pro1752Ala) c.5233C>G (p.Pro1745Ala) c.4579C>G (p.Pro1527Ala) c.5527C>G (p.Pro1843Ala) c.5275C>G (p.Pro1759Ala) c.4021C>G (p.Pro1341Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088497C>T | CA394315429 | TSC2 | c.*3660C>T (n.*3660C>T) c.5158C>T (p.Pro1720Ser) c.5308C>T (p.Pro1770Ser) c.*5824C>T (n.*5824C>T) c.*8060C>T (n.*8060C>T) c.5311C>T (p.Pro1771Ser) c.5242C>T (p.Pro1748Ser) c.5110C>T (p.Pro1704Ser) c.5143C>T (p.Pro1715Ser) c.1534C>T n.3193C>T c.3965C>T c.5170C>T (p.Pro1724Ser) n.908C>T c.5113C>T (p.Pro1705Ser) c.5179C>T (p.Pro1727Ser) c.5104C>T (p.Pro1702Ser) n.2959C>T c.5236C>T (p.Pro1746Ser) c.5182C>T (p.Pro1728Ser) c.5197C>T (p.Pro1733Ser) c.5107C>T (p.Pro1703Ser) c.5232C>T n.3395C>T c.5305C>T (p.Pro1769Ser) n.4126C>T n.2563C>T n.2534C>T n.2424C>T c.4966C>T (p.Pro1656Ser) c.*4478C>T (n.*4478C>T) c.5002C>T (p.Pro1668Ser) n.3034C>T c.1493C>T n.2426C>T c.5365C>T (p.Pro1789Ser) c.5362C>T (p.Pro1788Ser) c.5254C>T (p.Pro1752Ser) c.5233C>T (p.Pro1745Ser) c.4579C>T (p.Pro1527Ser) c.5527C>T (p.Pro1843Ser) c.5275C>T (p.Pro1759Ser) c.4021C>T (p.Pro1341Ser) | ClinVar dbSNP gnomAD v2 |
16 | g.2088498C>A | CA394315432 | TSC2 | c.*3661C>A (n.*3661C>A) c.5159C>A (p.Pro1720Gln) c.5309C>A (p.Pro1770Gln) c.*5825C>A (n.*5825C>A) c.*8061C>A (n.*8061C>A) c.5312C>A (p.Pro1771Gln) c.5243C>A (p.Pro1748Gln) c.5111C>A (p.Pro1704Gln) c.5144C>A (p.Pro1715Gln) c.1535C>A n.3194C>A c.3966C>A c.5171C>A (p.Pro1724Gln) n.909C>A c.5114C>A (p.Pro1705Gln) c.5180C>A (p.Pro1727Gln) c.5105C>A (p.Pro1702Gln) n.2960C>A c.5237C>A (p.Pro1746Gln) c.5183C>A (p.Pro1728Gln) c.5198C>A (p.Pro1733Gln) c.5108C>A (p.Pro1703Gln) c.5233C>A n.3396C>A c.5306C>A (p.Pro1769Gln) n.4127C>A n.2564C>A n.2535C>A n.2425C>A c.4967C>A (p.Pro1656Gln) c.*4479C>A (n.*4479C>A) c.5003C>A (p.Pro1668Gln) n.3035C>A c.1494C>A n.2427C>A c.5366C>A (p.Pro1789Gln) c.5363C>A (p.Pro1788Gln) c.5255C>A (p.Pro1752Gln) c.5234C>A (p.Pro1745Gln) c.4580C>A (p.Pro1527Gln) c.5528C>A (p.Pro1843Gln) c.5276C>A (p.Pro1759Gln) c.4022C>A (p.Pro1341Gln) | ClinVar dbSNP gnomAD v4 |
16 | g.2088498C= | CA2202033710 | TSC2 | c.*3661C= (n.*3661C=) c.5159C= (p.Pro1720=) c.5309C= (p.Pro1770=) c.*5825C= (n.*5825C=) c.*8061C= (n.*8061C=) c.5312C= (p.Pro1771=) c.5243C= (p.Pro1748=) c.5111C= (p.Pro1704=) c.5144C= (p.Pro1715=) c.1535C= n.3194C= c.3966C= c.5171C= (p.Pro1724=) n.909C= c.5114C= (p.Pro1705=) c.5180C= (p.Pro1727=) c.5105C= (p.Pro1702=) n.2960C= c.5237C= (p.Pro1746=) c.5183C= (p.Pro1728=) c.5198C= (p.Pro1733=) c.5108C= (p.Pro1703=) c.5233C= n.3396C= c.5306C= (p.Pro1769=) n.4127C= n.2564C= n.2535C= n.2425C= c.4967C= (p.Pro1656=) c.*4479C= (n.*4479C=) c.5003C= (p.Pro1668=) n.3035C= c.1494C= n.2427C= c.5366C= (p.Pro1789=) c.5363C= (p.Pro1788=) c.5255C= (p.Pro1752=) c.5234C= (p.Pro1745=) c.4580C= (p.Pro1527=) c.5528C= (p.Pro1843=) c.5276C= (p.Pro1759=) c.4022C= (p.Pro1341=) | |
16 | g.2088498C>G | CA394315434 | TSC2 | c.*3661C>G (n.*3661C>G) c.5159C>G (p.Pro1720Arg) c.5309C>G (p.Pro1770Arg) c.*5825C>G (n.*5825C>G) c.*8061C>G (n.*8061C>G) c.5312C>G (p.Pro1771Arg) c.5243C>G (p.Pro1748Arg) c.5111C>G (p.Pro1704Arg) c.5144C>G (p.Pro1715Arg) c.1535C>G n.3194C>G c.3966C>G c.5171C>G (p.Pro1724Arg) n.909C>G c.5114C>G (p.Pro1705Arg) c.5180C>G (p.Pro1727Arg) c.5105C>G (p.Pro1702Arg) n.2960C>G c.5237C>G (p.Pro1746Arg) c.5183C>G (p.Pro1728Arg) c.5198C>G (p.Pro1733Arg) c.5108C>G (p.Pro1703Arg) c.5233C>G n.3396C>G c.5306C>G (p.Pro1769Arg) n.4127C>G n.2564C>G n.2535C>G n.2425C>G c.4967C>G (p.Pro1656Arg) c.*4479C>G (n.*4479C>G) c.5003C>G (p.Pro1668Arg) n.3035C>G c.1494C>G n.2427C>G c.5366C>G (p.Pro1789Arg) c.5363C>G (p.Pro1788Arg) c.5255C>G (p.Pro1752Arg) c.5234C>G (p.Pro1745Arg) c.4580C>G (p.Pro1527Arg) c.5528C>G (p.Pro1843Arg) c.5276C>G (p.Pro1759Arg) c.4022C>G (p.Pro1341Arg) | gnomAD v4 |
16 | g.2088498C>T | CA022380 | TSC2 | c.*3661C>T (n.*3661C>T) c.5159C>T (p.Pro1720Leu) c.5309C>T (p.Pro1770Leu) c.*5825C>T (n.*5825C>T) c.*8061C>T (n.*8061C>T) c.5312C>T (p.Pro1771Leu) c.5243C>T (p.Pro1748Leu) c.5111C>T (p.Pro1704Leu) c.5144C>T (p.Pro1715Leu) c.1535C>T n.3194C>T c.3966C>T c.5171C>T (p.Pro1724Leu) n.909C>T c.5114C>T (p.Pro1705Leu) c.5180C>T (p.Pro1727Leu) c.5105C>T (p.Pro1702Leu) n.2960C>T c.5237C>T (p.Pro1746Leu) c.5183C>T (p.Pro1728Leu) c.5198C>T (p.Pro1733Leu) c.5108C>T (p.Pro1703Leu) c.5233C>T n.3396C>T c.5306C>T (p.Pro1769Leu) n.4127C>T n.2564C>T n.2535C>T n.2425C>T c.4967C>T (p.Pro1656Leu) c.*4479C>T (n.*4479C>T) c.5003C>T (p.Pro1668Leu) n.3035C>T c.1494C>T n.2427C>T c.5366C>T (p.Pro1789Leu) c.5363C>T (p.Pro1788Leu) c.5255C>T (p.Pro1752Leu) c.5234C>T (p.Pro1745Leu) c.4580C>T (p.Pro1527Leu) c.5528C>T (p.Pro1843Leu) c.5276C>T (p.Pro1759Leu) c.4022C>T (p.Pro1341Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088499G>A | CA055071 | TSC2 | c.*3662G>A (n.*3662G>A) c.5160G>A (p.Pro1720=) c.5310G>A (p.Pro1770=) c.*5826G>A (n.*5826G>A) c.*8062G>A (n.*8062G>A) c.5313G>A (p.Pro1771=) c.5244G>A (p.Pro1748=) c.5112G>A (p.Pro1704=) c.5145G>A (p.Pro1715=) c.1536G>A n.3195G>A c.3967G>A c.5172G>A (p.Pro1724=) n.910G>A c.5115G>A (p.Pro1705=) c.5181G>A (p.Pro1727=) c.5106G>A (p.Pro1702=) n.2961G>A c.5238G>A (p.Pro1746=) c.5184G>A (p.Pro1728=) c.5199G>A (p.Pro1733=) c.5109G>A (p.Pro1703=) c.5234G>A n.3397G>A c.5307G>A (p.Pro1769=) n.4128G>A n.2565G>A n.2536G>A n.2426G>A c.4968G>A (p.Pro1656=) c.*4480G>A (n.*4480G>A) c.5004G>A (p.Pro1668=) n.3036G>A c.1495G>A n.2428G>A c.5367G>A (p.Pro1789=) c.5364G>A (p.Pro1788=) c.5256G>A (p.Pro1752=) c.5235G>A (p.Pro1745=) c.4581G>A (p.Pro1527=) c.5529G>A (p.Pro1843=) c.5277G>A (p.Pro1759=) c.4023G>A (p.Pro1341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088499G>C | CA493043697 | TSC2 | c.*3662G>C (n.*3662G>C) c.5160G>C (p.Pro1720=) c.5310G>C (p.Pro1770=) c.*5826G>C (n.*5826G>C) c.*8062G>C (n.*8062G>C) c.5313G>C (p.Pro1771=) c.5244G>C (p.Pro1748=) c.5112G>C (p.Pro1704=) c.5145G>C (p.Pro1715=) c.1536G>C n.3195G>C c.3967G>C c.5172G>C (p.Pro1724=) n.910G>C c.5115G>C (p.Pro1705=) c.5181G>C (p.Pro1727=) c.5106G>C (p.Pro1702=) n.2961G>C c.5238G>C (p.Pro1746=) c.5184G>C (p.Pro1728=) c.5199G>C (p.Pro1733=) c.5109G>C (p.Pro1703=) c.5234G>C n.3397G>C c.5307G>C (p.Pro1769=) n.4128G>C n.2565G>C n.2536G>C n.2426G>C c.4968G>C (p.Pro1656=) c.*4480G>C (n.*4480G>C) c.5004G>C (p.Pro1668=) n.3036G>C c.1495G>C n.2428G>C c.5367G>C (p.Pro1789=) c.5364G>C (p.Pro1788=) c.5256G>C (p.Pro1752=) c.5235G>C (p.Pro1745=) c.4581G>C (p.Pro1527=) c.5529G>C (p.Pro1843=) c.5277G>C (p.Pro1759=) c.4023G>C (p.Pro1341=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088499G= | CA2202033717 | TSC2 | c.*3662G= (n.*3662G=) c.5160G= (p.Pro1720=) c.5310G= (p.Pro1770=) c.*5826G= (n.*5826G=) c.*8062G= (n.*8062G=) c.5313G= (p.Pro1771=) c.5244G= (p.Pro1748=) c.5112G= (p.Pro1704=) c.5145G= (p.Pro1715=) c.1536G= n.3195G= c.3967G= c.5172G= (p.Pro1724=) n.910G= c.5115G= (p.Pro1705=) c.5181G= (p.Pro1727=) c.5106G= (p.Pro1702=) n.2961G= c.5238G= (p.Pro1746=) c.5184G= (p.Pro1728=) c.5199G= (p.Pro1733=) c.5109G= (p.Pro1703=) c.5234G= n.3397G= c.5307G= (p.Pro1769=) n.4128G= n.2565G= n.2536G= n.2426G= c.4968G= (p.Pro1656=) c.*4480G= (n.*4480G=) c.5004G= (p.Pro1668=) n.3036G= c.1495G= n.2428G= c.5367G= (p.Pro1789=) c.5364G= (p.Pro1788=) c.5256G= (p.Pro1752=) c.5235G= (p.Pro1745=) c.4581G= (p.Pro1527=) c.5529G= (p.Pro1843=) c.5277G= (p.Pro1759=) c.4023G= (p.Pro1341=) | |
16 | g.2088499G>T | CA493043698 | TSC2 | c.*3662G>T (n.*3662G>T) c.5160G>T (p.Pro1720=) c.5310G>T (p.Pro1770=) c.*5826G>T (n.*5826G>T) c.*8062G>T (n.*8062G>T) c.5313G>T (p.Pro1771=) c.5244G>T (p.Pro1748=) c.5112G>T (p.Pro1704=) c.5145G>T (p.Pro1715=) c.1536G>T n.3195G>T c.3967G>T c.5172G>T (p.Pro1724=) n.910G>T c.5115G>T (p.Pro1705=) c.5181G>T (p.Pro1727=) c.5106G>T (p.Pro1702=) n.2961G>T c.5238G>T (p.Pro1746=) c.5184G>T (p.Pro1728=) c.5199G>T (p.Pro1733=) c.5109G>T (p.Pro1703=) c.5234G>T n.3397G>T c.5307G>T (p.Pro1769=) n.4128G>T n.2565G>T n.2536G>T n.2426G>T c.4968G>T (p.Pro1656=) c.*4480G>T (n.*4480G>T) c.5004G>T (p.Pro1668=) n.3036G>T c.1495G>T n.2428G>T c.5367G>T (p.Pro1789=) c.5364G>T (p.Pro1788=) c.5256G>T (p.Pro1752=) c.5235G>T (p.Pro1745=) c.4581G>T (p.Pro1527=) c.5529G>T (p.Pro1843=) c.5277G>T (p.Pro1759=) c.4023G>T (p.Pro1341=) | |
16 | g.2088500T>A | CA394315440 | TSC2 | c.*3663T>A (n.*3663T>A) c.5161T>A (p.Ser1721Thr) c.5311T>A (p.Ser1771Thr) c.*5827T>A (n.*5827T>A) c.*8063T>A (n.*8063T>A) c.5314T>A (p.Ser1772Thr) c.5245T>A (p.Ser1749Thr) c.5113T>A (p.Ser1705Thr) c.5146T>A (p.Ser1716Thr) c.1537T>A n.3196T>A c.3968T>A c.5173T>A (p.Ser1725Thr) n.911T>A c.5116T>A (p.Ser1706Thr) c.5182T>A (p.Ser1728Thr) c.5107T>A (p.Ser1703Thr) n.2962T>A c.5239T>A (p.Ser1747Thr) c.5185T>A (p.Ser1729Thr) c.5200T>A (p.Ser1734Thr) c.5110T>A (p.Ser1704Thr) c.5235T>A n.3398T>A c.5308T>A (p.Ser1770Thr) n.4129T>A n.2566T>A n.2537T>A n.2427T>A c.4969T>A (p.Ser1657Thr) c.*4481T>A (n.*4481T>A) c.5005T>A (p.Ser1669Thr) n.3037T>A c.1496T>A n.2429T>A c.5368T>A (p.Ser1790Thr) c.5365T>A (p.Ser1789Thr) c.5257T>A (p.Ser1753Thr) c.5236T>A (p.Ser1746Thr) c.4582T>A (p.Ser1528Thr) c.5530T>A (p.Ser1844Thr) c.5278T>A (p.Ser1760Thr) c.4024T>A (p.Ser1342Thr) | |
16 | g.2088500T>C | CA394315443 | TSC2 | c.*3663T>C (n.*3663T>C) c.5161T>C (p.Ser1721Pro) c.5311T>C (p.Ser1771Pro) c.*5827T>C (n.*5827T>C) c.*8063T>C (n.*8063T>C) c.5314T>C (p.Ser1772Pro) c.5245T>C (p.Ser1749Pro) c.5113T>C (p.Ser1705Pro) c.5146T>C (p.Ser1716Pro) c.1537T>C n.3196T>C c.3968T>C c.5173T>C (p.Ser1725Pro) n.911T>C c.5116T>C (p.Ser1706Pro) c.5182T>C (p.Ser1728Pro) c.5107T>C (p.Ser1703Pro) n.2962T>C c.5239T>C (p.Ser1747Pro) c.5185T>C (p.Ser1729Pro) c.5200T>C (p.Ser1734Pro) c.5110T>C (p.Ser1704Pro) c.5235T>C n.3398T>C c.5308T>C (p.Ser1770Pro) n.4129T>C n.2566T>C n.2537T>C n.2427T>C c.4969T>C (p.Ser1657Pro) c.*4481T>C (n.*4481T>C) c.5005T>C (p.Ser1669Pro) n.3037T>C c.1496T>C n.2429T>C c.5368T>C (p.Ser1790Pro) c.5365T>C (p.Ser1789Pro) c.5257T>C (p.Ser1753Pro) c.5236T>C (p.Ser1746Pro) c.4582T>C (p.Ser1528Pro) c.5530T>C (p.Ser1844Pro) c.5278T>C (p.Ser1760Pro) c.4024T>C (p.Ser1342Pro) | |
16 | g.2088500T>G | CA16615050 | TSC2 | c.*3663T>G (n.*3663T>G) c.5161T>G (p.Ser1721Ala) c.5311T>G (p.Ser1771Ala) c.*5827T>G (n.*5827T>G) c.*8063T>G (n.*8063T>G) c.5314T>G (p.Ser1772Ala) c.5245T>G (p.Ser1749Ala) c.5113T>G (p.Ser1705Ala) c.5146T>G (p.Ser1716Ala) c.1537T>G n.3196T>G c.3968T>G c.5173T>G (p.Ser1725Ala) n.911T>G c.5116T>G (p.Ser1706Ala) c.5182T>G (p.Ser1728Ala) c.5107T>G (p.Ser1703Ala) n.2962T>G c.5239T>G (p.Ser1747Ala) c.5185T>G (p.Ser1729Ala) c.5200T>G (p.Ser1734Ala) c.5110T>G (p.Ser1704Ala) c.5235T>G n.3398T>G c.5308T>G (p.Ser1770Ala) n.4129T>G n.2566T>G n.2537T>G n.2427T>G c.4969T>G (p.Ser1657Ala) c.*4481T>G (n.*4481T>G) c.5005T>G (p.Ser1669Ala) n.3037T>G c.1496T>G n.2429T>G c.5368T>G (p.Ser1790Ala) c.5365T>G (p.Ser1789Ala) c.5257T>G (p.Ser1753Ala) c.5236T>G (p.Ser1746Ala) c.4582T>G (p.Ser1528Ala) c.5530T>G (p.Ser1844Ala) c.5278T>G (p.Ser1760Ala) c.4024T>G (p.Ser1342Ala) | ClinVar dbSNP |
16 | g.2088500T= | CA2202033731 | TSC2 | c.*3663T= (n.*3663T=) c.5161T= (p.Ser1721=) c.5311T= (p.Ser1771=) c.*5827T= (n.*5827T=) c.*8063T= (n.*8063T=) c.5314T= (p.Ser1772=) c.5245T= (p.Ser1749=) c.5113T= (p.Ser1705=) c.5146T= (p.Ser1716=) c.1537T= n.3196T= c.3968T= c.5173T= (p.Ser1725=) n.911T= c.5116T= (p.Ser1706=) c.5182T= (p.Ser1728=) c.5107T= (p.Ser1703=) n.2962T= c.5239T= (p.Ser1747=) c.5185T= (p.Ser1729=) c.5200T= (p.Ser1734=) c.5110T= (p.Ser1704=) c.5235T= n.3398T= c.5308T= (p.Ser1770=) n.4129T= n.2566T= n.2537T= n.2427T= c.4969T= (p.Ser1657=) c.*4481T= (n.*4481T=) c.5005T= (p.Ser1669=) n.3037T= c.1496T= n.2429T= c.5368T= (p.Ser1790=) c.5365T= (p.Ser1789=) c.5257T= (p.Ser1753=) c.5236T= (p.Ser1746=) c.4582T= (p.Ser1528=) c.5530T= (p.Ser1844=) c.5278T= (p.Ser1760=) c.4024T= (p.Ser1342=) | |
16 | g.2088501C>A | CA394315454 | TSC2 | c.*3664C>A (n.*3664C>A) c.5162C>A (p.Ser1721Tyr) c.5312C>A (p.Ser1771Tyr) c.*5828C>A (n.*5828C>A) c.*8064C>A (n.*8064C>A) c.5315C>A (p.Ser1772Tyr) c.5246C>A (p.Ser1749Tyr) c.5114C>A (p.Ser1705Tyr) c.5147C>A (p.Ser1716Tyr) c.1538C>A n.3197C>A c.3969C>A c.5174C>A (p.Ser1725Tyr) n.912C>A c.5117C>A (p.Ser1706Tyr) c.5183C>A (p.Ser1728Tyr) c.5108C>A (p.Ser1703Tyr) n.2963C>A c.5240C>A (p.Ser1747Tyr) c.5186C>A (p.Ser1729Tyr) c.5201C>A (p.Ser1734Tyr) c.5111C>A (p.Ser1704Tyr) c.5236C>A n.3399C>A c.5309C>A (p.Ser1770Tyr) n.4130C>A n.2567C>A n.2538C>A n.2428C>A c.4970C>A (p.Ser1657Tyr) c.*4482C>A (n.*4482C>A) c.5006C>A (p.Ser1669Tyr) n.3038C>A c.1497C>A n.2430C>A c.5369C>A (p.Ser1790Tyr) c.5366C>A (p.Ser1789Tyr) c.5258C>A (p.Ser1753Tyr) c.5237C>A (p.Ser1746Tyr) c.4583C>A (p.Ser1528Tyr) c.5531C>A (p.Ser1844Tyr) c.5279C>A (p.Ser1760Tyr) c.4025C>A (p.Ser1342Tyr) | |
16 | g.2088501C>G | CA394315452 | TSC2 | c.*3664C>G (n.*3664C>G) c.5162C>G (p.Ser1721Cys) c.5312C>G (p.Ser1771Cys) c.*5828C>G (n.*5828C>G) c.*8064C>G (n.*8064C>G) c.5315C>G (p.Ser1772Cys) c.5246C>G (p.Ser1749Cys) c.5114C>G (p.Ser1705Cys) c.5147C>G (p.Ser1716Cys) c.1538C>G n.3197C>G c.3969C>G c.5174C>G (p.Ser1725Cys) n.912C>G c.5117C>G (p.Ser1706Cys) c.5183C>G (p.Ser1728Cys) c.5108C>G (p.Ser1703Cys) n.2963C>G c.5240C>G (p.Ser1747Cys) c.5186C>G (p.Ser1729Cys) c.5201C>G (p.Ser1734Cys) c.5111C>G (p.Ser1704Cys) c.5236C>G n.3399C>G c.5309C>G (p.Ser1770Cys) n.4130C>G n.2567C>G n.2538C>G n.2428C>G c.4970C>G (p.Ser1657Cys) c.*4482C>G (n.*4482C>G) c.5006C>G (p.Ser1669Cys) n.3038C>G c.1497C>G n.2430C>G c.5369C>G (p.Ser1790Cys) c.5366C>G (p.Ser1789Cys) c.5258C>G (p.Ser1753Cys) c.5237C>G (p.Ser1746Cys) c.4583C>G (p.Ser1528Cys) c.5531C>G (p.Ser1844Cys) c.5279C>G (p.Ser1760Cys) c.4025C>G (p.Ser1342Cys) | ClinVar gnomAD v4 |
16 | g.2088501C>T | CA394315451 | TSC2 | c.*3664C>T (n.*3664C>T) c.5162C>T (p.Ser1721Phe) c.5312C>T (p.Ser1771Phe) c.*5828C>T (n.*5828C>T) c.*8064C>T (n.*8064C>T) c.5315C>T (p.Ser1772Phe) c.5246C>T (p.Ser1749Phe) c.5114C>T (p.Ser1705Phe) c.5147C>T (p.Ser1716Phe) c.1538C>T n.3197C>T c.3969C>T c.5174C>T (p.Ser1725Phe) n.912C>T c.5117C>T (p.Ser1706Phe) c.5183C>T (p.Ser1728Phe) c.5108C>T (p.Ser1703Phe) n.2963C>T c.5240C>T (p.Ser1747Phe) c.5186C>T (p.Ser1729Phe) c.5201C>T (p.Ser1734Phe) c.5111C>T (p.Ser1704Phe) c.5236C>T n.3399C>T c.5309C>T (p.Ser1770Phe) n.4130C>T n.2567C>T n.2538C>T n.2428C>T c.4970C>T (p.Ser1657Phe) c.*4482C>T (n.*4482C>T) c.5006C>T (p.Ser1669Phe) n.3038C>T c.1497C>T n.2430C>T c.5369C>T (p.Ser1790Phe) c.5366C>T (p.Ser1789Phe) c.5258C>T (p.Ser1753Phe) c.5237C>T (p.Ser1746Phe) c.4583C>T (p.Ser1528Phe) c.5531C>T (p.Ser1844Phe) c.5279C>T (p.Ser1760Phe) c.4025C>T (p.Ser1342Phe) | ClinVar dbSNP gnomAD v4 |
16 | g.2088502C>A | CA493043701 | TSC2 | c.*3665C>A (n.*3665C>A) c.5163C>A (p.Ser1721=) c.5313C>A (p.Ser1771=) c.*5829C>A (n.*5829C>A) c.*8065C>A (n.*8065C>A) c.5316C>A (p.Ser1772=) c.5247C>A (p.Ser1749=) c.5115C>A (p.Ser1705=) c.5148C>A (p.Ser1716=) c.1539C>A n.3198C>A c.3970C>A c.5175C>A (p.Ser1725=) n.913C>A c.5118C>A (p.Ser1706=) c.5184C>A (p.Ser1728=) c.5109C>A (p.Ser1703=) n.2964C>A c.5241C>A (p.Ser1747=) c.5187C>A (p.Ser1729=) c.5202C>A (p.Ser1734=) c.5112C>A (p.Ser1704=) c.5237C>A n.3400C>A c.5310C>A (p.Ser1770=) n.4131C>A n.2568C>A n.2539C>A n.2429C>A c.4971C>A (p.Ser1657=) c.*4483C>A (n.*4483C>A) c.5007C>A (p.Ser1669=) n.3039C>A c.1498C>A n.2431C>A c.5370C>A (p.Ser1790=) c.5367C>A (p.Ser1789=) c.5259C>A (p.Ser1753=) c.5238C>A (p.Ser1746=) c.4584C>A (p.Ser1528=) c.5532C>A (p.Ser1844=) c.5280C>A (p.Ser1760=) c.4026C>A (p.Ser1342=) | |
16 | g.2088502C>G | CA493043702 | TSC2 | c.*3665C>G (n.*3665C>G) c.5163C>G (p.Ser1721=) c.5313C>G (p.Ser1771=) c.*5829C>G (n.*5829C>G) c.*8065C>G (n.*8065C>G) c.5316C>G (p.Ser1772=) c.5247C>G (p.Ser1749=) c.5115C>G (p.Ser1705=) c.5148C>G (p.Ser1716=) c.1539C>G n.3198C>G c.3970C>G c.5175C>G (p.Ser1725=) n.913C>G c.5118C>G (p.Ser1706=) c.5184C>G (p.Ser1728=) c.5109C>G (p.Ser1703=) n.2964C>G c.5241C>G (p.Ser1747=) c.5187C>G (p.Ser1729=) c.5202C>G (p.Ser1734=) c.5112C>G (p.Ser1704=) c.5237C>G n.3400C>G c.5310C>G (p.Ser1770=) n.4131C>G n.2568C>G n.2539C>G n.2429C>G c.4971C>G (p.Ser1657=) c.*4483C>G (n.*4483C>G) c.5007C>G (p.Ser1669=) n.3039C>G c.1498C>G n.2431C>G c.5370C>G (p.Ser1790=) c.5367C>G (p.Ser1789=) c.5259C>G (p.Ser1753=) c.5238C>G (p.Ser1746=) c.4584C>G (p.Ser1528=) c.5532C>G (p.Ser1844=) c.5280C>G (p.Ser1760=) c.4026C>G (p.Ser1342=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088502C>T | CA493043703 | TSC2 | c.*3665C>T (n.*3665C>T) c.5163C>T (p.Ser1721=) c.5313C>T (p.Ser1771=) c.*5829C>T (n.*5829C>T) c.*8065C>T (n.*8065C>T) c.5316C>T (p.Ser1772=) c.5247C>T (p.Ser1749=) c.5115C>T (p.Ser1705=) c.5148C>T (p.Ser1716=) c.1539C>T n.3198C>T c.3970C>T c.5175C>T (p.Ser1725=) n.913C>T c.5118C>T (p.Ser1706=) c.5184C>T (p.Ser1728=) c.5109C>T (p.Ser1703=) n.2964C>T c.5241C>T (p.Ser1747=) c.5187C>T (p.Ser1729=) c.5202C>T (p.Ser1734=) c.5112C>T (p.Ser1704=) c.5237C>T n.3400C>T c.5310C>T (p.Ser1770=) n.4131C>T n.2568C>T n.2539C>T n.2429C>T c.4971C>T (p.Ser1657=) c.*4483C>T (n.*4483C>T) c.5007C>T (p.Ser1669=) n.3039C>T c.1498C>T n.2431C>T c.5370C>T (p.Ser1790=) c.5367C>T (p.Ser1789=) c.5259C>T (p.Ser1753=) c.5238C>T (p.Ser1746=) c.4584C>T (p.Ser1528=) c.5532C>T (p.Ser1844=) c.5280C>T (p.Ser1760=) c.4026C>T (p.Ser1342=) | ClinVar |
16 | g.2088503C>A | CA394315458 | TSC2 | c.*3666C>A (n.*3666C>A) c.5164C>A (p.His1722Asn) c.5314C>A (p.His1772Asn) c.*5830C>A (n.*5830C>A) c.*8066C>A (n.*8066C>A) c.5317C>A (p.His1773Asn) c.5248C>A (p.His1750Asn) c.5116C>A (p.His1706Asn) c.5149C>A (p.His1717Asn) c.1540C>A n.3199C>A c.3971C>A c.5176C>A (p.His1726Asn) n.914C>A c.5119C>A (p.His1707Asn) c.5185C>A (p.His1729Asn) c.5110C>A (p.His1704Asn) n.2965C>A c.5242C>A (p.His1748Asn) c.5188C>A (p.His1730Asn) c.5203C>A (p.His1735Asn) c.5113C>A (p.His1705Asn) c.5238C>A n.3401C>A c.5311C>A (p.His1771Asn) n.4132C>A n.2569C>A n.2540C>A n.2430C>A c.4972C>A (p.His1658Asn) c.*4484C>A (n.*4484C>A) c.5008C>A (p.His1670Asn) n.3040C>A c.1499C>A n.2432C>A c.5371C>A (p.His1791Asn) c.5368C>A (p.His1790Asn) c.5260C>A (p.His1754Asn) c.5239C>A (p.His1747Asn) c.4585C>A (p.His1529Asn) c.5533C>A (p.His1845Asn) c.5281C>A (p.His1761Asn) c.4027C>A (p.His1343Asn) | ClinVar dbSNP |
16 | g.2088503C= | CA2202033754 | TSC2 | c.*3666C= (n.*3666C=) c.5164C= (p.His1722=) c.5314C= (p.His1772=) c.*5830C= (n.*5830C=) c.*8066C= (n.*8066C=) c.5317C= (p.His1773=) c.5248C= (p.His1750=) c.5116C= (p.His1706=) c.5149C= (p.His1717=) c.1540C= n.3199C= c.3971C= c.5176C= (p.His1726=) n.914C= c.5119C= (p.His1707=) c.5185C= (p.His1729=) c.5110C= (p.His1704=) n.2965C= c.5242C= (p.His1748=) c.5188C= (p.His1730=) c.5203C= (p.His1735=) c.5113C= (p.His1705=) c.5238C= n.3401C= c.5311C= (p.His1771=) n.4132C= n.2569C= n.2540C= n.2430C= c.4972C= (p.His1658=) c.*4484C= (n.*4484C=) c.5008C= (p.His1670=) n.3040C= c.1499C= n.2432C= c.5371C= (p.His1791=) c.5368C= (p.His1790=) c.5260C= (p.His1754=) c.5239C= (p.His1747=) c.4585C= (p.His1529=) c.5533C= (p.His1845=) c.5281C= (p.His1761=) c.4027C= (p.His1343=) | |
16 | g.2088503C>G | CA394315463 | TSC2 | c.*3666C>G (n.*3666C>G) c.5164C>G (p.His1722Asp) c.5314C>G (p.His1772Asp) c.*5830C>G (n.*5830C>G) c.*8066C>G (n.*8066C>G) c.5317C>G (p.His1773Asp) c.5248C>G (p.His1750Asp) c.5116C>G (p.His1706Asp) c.5149C>G (p.His1717Asp) c.1540C>G n.3199C>G c.3971C>G c.5176C>G (p.His1726Asp) n.914C>G c.5119C>G (p.His1707Asp) c.5185C>G (p.His1729Asp) c.5110C>G (p.His1704Asp) n.2965C>G c.5242C>G (p.His1748Asp) c.5188C>G (p.His1730Asp) c.5203C>G (p.His1735Asp) c.5113C>G (p.His1705Asp) c.5238C>G n.3401C>G c.5311C>G (p.His1771Asp) n.4132C>G n.2569C>G n.2540C>G n.2430C>G c.4972C>G (p.His1658Asp) c.*4484C>G (n.*4484C>G) c.5008C>G (p.His1670Asp) n.3040C>G c.1499C>G n.2432C>G c.5371C>G (p.His1791Asp) c.5368C>G (p.His1790Asp) c.5260C>G (p.His1754Asp) c.5239C>G (p.His1747Asp) c.4585C>G (p.His1529Asp) c.5533C>G (p.His1845Asp) c.5281C>G (p.His1761Asp) c.4027C>G (p.His1343Asp) | gnomAD v4 |
16 | g.2088503C>T | CA276759978 | TSC2 | c.*3666C>T (n.*3666C>T) c.5164C>T (p.His1722Tyr) c.5314C>T (p.His1772Tyr) c.*5830C>T (n.*5830C>T) c.*8066C>T (n.*8066C>T) c.5317C>T (p.His1773Tyr) c.5248C>T (p.His1750Tyr) c.5116C>T (p.His1706Tyr) c.5149C>T (p.His1717Tyr) c.1540C>T n.3199C>T c.3971C>T c.5176C>T (p.His1726Tyr) n.914C>T c.5119C>T (p.His1707Tyr) c.5185C>T (p.His1729Tyr) c.5110C>T (p.His1704Tyr) n.2965C>T c.5242C>T (p.His1748Tyr) c.5188C>T (p.His1730Tyr) c.5203C>T (p.His1735Tyr) c.5113C>T (p.His1705Tyr) c.5238C>T n.3401C>T c.5311C>T (p.His1771Tyr) n.4132C>T n.2569C>T n.2540C>T n.2430C>T c.4972C>T (p.His1658Tyr) c.*4484C>T (n.*4484C>T) c.5008C>T (p.His1670Tyr) n.3040C>T c.1499C>T n.2432C>T c.5371C>T (p.His1791Tyr) c.5368C>T (p.His1790Tyr) c.5260C>T (p.His1754Tyr) c.5239C>T (p.His1747Tyr) c.4585C>T (p.His1529Tyr) c.5533C>T (p.His1845Tyr) c.5281C>T (p.His1761Tyr) c.4027C>T (p.His1343Tyr) | ClinVar dbSNP |
16 | g.2088503_2088504insTTTTTTTTTTAATG | CA2805573957 | TSC2 | c.*3666_*3667insTTTTTTTTTTAATG (n.*3666_*3667insTTTTTTTTTTAATG) c.5164_5165insTTTTTTTTTTAATG (p.His1722LeufsTer?) c.5314_5315insTTTTTTTTTTAATG (p.His1772LeufsTer?) c.*5830_*5831insTTTTTTTTTTAATG (n.*5830_*5831insTTTTTTTTTTAATG) c.*8066_*8067insTTTTTTTTTTAATG (n.*8066_*8067insTTTTTTTTTTAATG) c.5317_5318insTTTTTTTTTTAATG (p.His1773LeufsTer?) c.5248_5249insTTTTTTTTTTAATG (p.His1750LeufsTer?) c.5116_5117insTTTTTTTTTTAATG (p.His1706LeufsTer?) c.5149_5150insTTTTTTTTTTAATG (p.His1717LeufsTer?) c.1540_1541insTTTTTTTTTTAATG n.3199_3200insTTTTTTTTTTAATG c.3971_3972insTTTTTTTTTTAATG c.5176_5177insTTTTTTTTTTAATG (p.His1726LeufsTer?) n.914_915insTTTTTTTTTTAATG c.5119_5120insTTTTTTTTTTAATG (p.His1707LeufsTer?) c.5185_5186insTTTTTTTTTTAATG (p.His1729LeufsTer?) c.5110_5111insTTTTTTTTTTAATG (p.His1704LeufsTer?) n.2965_2966insTTTTTTTTTTAATG c.5242_5243insTTTTTTTTTTAATG (p.His1748LeufsTer?) c.5188_5189insTTTTTTTTTTAATG (p.His1730LeufsTer?) c.5203_5204insTTTTTTTTTTAATG (p.His1735LeufsTer?) c.5113_5114insTTTTTTTTTTAATG (p.His1705LeufsTer?) c.5238_5239insTTTTTTTTTTAATG n.3401_3402insTTTTTTTTTTAATG c.5311_5312insTTTTTTTTTTAATG (p.His1771LeufsTer?) n.4132_4133insTTTTTTTTTTAATG n.2569_2570insTTTTTTTTTTAATG n.2540_2541insTTTTTTTTTTAATG n.2430_2431insTTTTTTTTTTAATG c.4972_4973insTTTTTTTTTTAATG (p.His1658LeufsTer?) c.*4484_*4485insTTTTTTTTTTAATG (n.*4484_*4485insTTTTTTTTTTAATG) c.5008_5009insTTTTTTTTTTAATG (p.His1670LeufsTer?) n.3040_3041insTTTTTTTTTTAATG c.1499_1500insTTTTTTTTTTAATG n.2432_2433insTTTTTTTTTTAATG c.5371_5372insTTTTTTTTTTAATG (p.His1791LeufsTer?) c.5368_5369insTTTTTTTTTTAATG (p.His1790LeufsTer?) c.5260_5261insTTTTTTTTTTAATG (p.His1754LeufsTer?) c.5239_5240insTTTTTTTTTTAATG (p.His1747LeufsTer?) c.4585_4586insTTTTTTTTTTAATG (p.His1529LeufsTer?) c.5533_5534insTTTTTTTTTTAATG (p.His1845LeufsTer?) c.5281_5282insTTTTTTTTTTAATG (p.His1761LeufsTer?) c.4027_4028insTTTTTTTTTTAATG (p.His1343LeufsTer?) | |
16 | g.2088504A= | CA2202033768 | TSC2 | c.*3667A= (n.*3667A=) c.5165A= (p.His1722=) c.5315A= (p.His1772=) c.*5831A= (n.*5831A=) c.*8067A= (n.*8067A=) c.5318A= (p.His1773=) c.5249A= (p.His1750=) c.5117A= (p.His1706=) c.5150A= (p.His1717=) c.1541A= n.3200A= c.3972A= c.5177A= (p.His1726=) n.915A= c.5120A= (p.His1707=) c.5186A= (p.His1729=) c.5111A= (p.His1704=) n.2966A= c.5243A= (p.His1748=) c.5189A= (p.His1730=) c.5204A= (p.His1735=) c.5114A= (p.His1705=) c.5239A= n.3402A= c.5312A= (p.His1771=) n.4133A= n.2570A= n.2541A= n.2431A= c.4973A= (p.His1658=) c.*4485A= (n.*4485A=) c.5009A= (p.His1670=) n.3041A= c.1500A= n.2433A= c.5372A= (p.His1791=) c.5369A= (p.His1790=) c.5261A= (p.His1754=) c.5240A= (p.His1747=) c.4586A= (p.His1529=) c.5534A= (p.His1845=) c.5282A= (p.His1761=) c.4028A= (p.His1343=) | |
16 | g.2088504A>C | CA022386 | TSC2 | c.*3667A>C (n.*3667A>C) c.5165A>C (p.His1722Pro) c.5315A>C (p.His1772Pro) c.*5831A>C (n.*5831A>C) c.*8067A>C (n.*8067A>C) c.5318A>C (p.His1773Pro) c.5249A>C (p.His1750Pro) c.5117A>C (p.His1706Pro) c.5150A>C (p.His1717Pro) c.1541A>C n.3200A>C c.3972A>C c.5177A>C (p.His1726Pro) n.915A>C c.5120A>C (p.His1707Pro) c.5186A>C (p.His1729Pro) c.5111A>C (p.His1704Pro) n.2966A>C c.5243A>C (p.His1748Pro) c.5189A>C (p.His1730Pro) c.5204A>C (p.His1735Pro) c.5114A>C (p.His1705Pro) c.5239A>C n.3402A>C c.5312A>C (p.His1771Pro) n.4133A>C n.2570A>C n.2541A>C n.2431A>C c.4973A>C (p.His1658Pro) c.*4485A>C (n.*4485A>C) c.5009A>C (p.His1670Pro) n.3041A>C c.1500A>C n.2433A>C c.5372A>C (p.His1791Pro) c.5369A>C (p.His1790Pro) c.5261A>C (p.His1754Pro) c.5240A>C (p.His1747Pro) c.4586A>C (p.His1529Pro) c.5534A>C (p.His1845Pro) c.5282A>C (p.His1761Pro) c.4028A>C (p.His1343Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.2088504A>G | CA10583346 | TSC2 | c.*3667A>G (n.*3667A>G) c.5165A>G (p.His1722Arg) c.5315A>G (p.His1772Arg) c.*5831A>G (n.*5831A>G) c.*8067A>G (n.*8067A>G) c.5318A>G (p.His1773Arg) c.5249A>G (p.His1750Arg) c.5117A>G (p.His1706Arg) c.5150A>G (p.His1717Arg) c.1541A>G n.3200A>G c.3972A>G c.5177A>G (p.His1726Arg) n.915A>G c.5120A>G (p.His1707Arg) c.5186A>G (p.His1729Arg) c.5111A>G (p.His1704Arg) n.2966A>G c.5243A>G (p.His1748Arg) c.5189A>G (p.His1730Arg) c.5204A>G (p.His1735Arg) c.5114A>G (p.His1705Arg) c.5239A>G n.3402A>G c.5312A>G (p.His1771Arg) n.4133A>G n.2570A>G n.2541A>G n.2431A>G c.4973A>G (p.His1658Arg) c.*4485A>G (n.*4485A>G) c.5009A>G (p.His1670Arg) n.3041A>G c.1500A>G n.2433A>G c.5372A>G (p.His1791Arg) c.5369A>G (p.His1790Arg) c.5261A>G (p.His1754Arg) c.5240A>G (p.His1747Arg) c.4586A>G (p.His1529Arg) c.5534A>G (p.His1845Arg) c.5282A>G (p.His1761Arg) c.4028A>G (p.His1343Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088504A>T | CA394315477 | TSC2 | c.*3667A>T (n.*3667A>T) c.5165A>T (p.His1722Leu) c.5315A>T (p.His1772Leu) c.*5831A>T (n.*5831A>T) c.*8067A>T (n.*8067A>T) c.5318A>T (p.His1773Leu) c.5249A>T (p.His1750Leu) c.5117A>T (p.His1706Leu) c.5150A>T (p.His1717Leu) c.1541A>T n.3200A>T c.3972A>T c.5177A>T (p.His1726Leu) n.915A>T c.5120A>T (p.His1707Leu) c.5186A>T (p.His1729Leu) c.5111A>T (p.His1704Leu) n.2966A>T c.5243A>T (p.His1748Leu) c.5189A>T (p.His1730Leu) c.5204A>T (p.His1735Leu) c.5114A>T (p.His1705Leu) c.5239A>T n.3402A>T c.5312A>T (p.His1771Leu) n.4133A>T n.2570A>T n.2541A>T n.2431A>T c.4973A>T (p.His1658Leu) c.*4485A>T (n.*4485A>T) c.5009A>T (p.His1670Leu) n.3041A>T c.1500A>T n.2433A>T c.5372A>T (p.His1791Leu) c.5369A>T (p.His1790Leu) c.5261A>T (p.His1754Leu) c.5240A>T (p.His1747Leu) c.4586A>T (p.His1529Leu) c.5534A>T (p.His1845Leu) c.5282A>T (p.His1761Leu) c.4028A>T (p.His1343Leu) | ClinVar dbSNP |
16 | g.2088505T>A | CA394315491 | TSC2 | c.*3668T>A (n.*3668T>A) c.5166T>A (p.His1722Gln) c.5316T>A (p.His1772Gln) c.*5832T>A (n.*5832T>A) c.*8068T>A (n.*8068T>A) c.5319T>A (p.His1773Gln) c.5250T>A (p.His1750Gln) c.5118T>A (p.His1706Gln) c.5151T>A (p.His1717Gln) c.1542T>A n.3201T>A c.3973T>A c.5178T>A (p.His1726Gln) n.916T>A c.5121T>A (p.His1707Gln) c.5187T>A (p.His1729Gln) c.5112T>A (p.His1704Gln) n.2967T>A c.5244T>A (p.His1748Gln) c.5190T>A (p.His1730Gln) c.5205T>A (p.His1735Gln) c.5115T>A (p.His1705Gln) c.5240T>A n.3403T>A c.5313T>A (p.His1771Gln) n.4134T>A n.2571T>A n.2542T>A n.2432T>A c.4974T>A (p.His1658Gln) c.*4486T>A (n.*4486T>A) c.5010T>A (p.His1670Gln) n.3042T>A c.1501T>A n.2434T>A c.5373T>A (p.His1791Gln) c.5370T>A (p.His1790Gln) c.5262T>A (p.His1754Gln) c.5241T>A (p.His1747Gln) c.4587T>A (p.His1529Gln) c.5535T>A (p.His1845Gln) c.5283T>A (p.His1761Gln) c.4029T>A (p.His1343Gln) | dbSNP |
16 | g.2088505T>C | CA055081 | TSC2 | c.*3668T>C (n.*3668T>C) c.5166T>C (p.His1722=) c.5316T>C (p.His1772=) c.*5832T>C (n.*5832T>C) c.*8068T>C (n.*8068T>C) c.5319T>C (p.His1773=) c.5250T>C (p.His1750=) c.5118T>C (p.His1706=) c.5151T>C (p.His1717=) c.1542T>C n.3201T>C c.3973T>C c.5178T>C (p.His1726=) n.916T>C c.5121T>C (p.His1707=) c.5187T>C (p.His1729=) c.5112T>C (p.His1704=) n.2967T>C c.5244T>C (p.His1748=) c.5190T>C (p.His1730=) c.5205T>C (p.His1735=) c.5115T>C (p.His1705=) c.5240T>C n.3403T>C c.5313T>C (p.His1771=) n.4134T>C n.2571T>C n.2542T>C n.2432T>C c.4974T>C (p.His1658=) c.*4486T>C (n.*4486T>C) c.5010T>C (p.His1670=) n.3042T>C c.1501T>C n.2434T>C c.5373T>C (p.His1791=) c.5370T>C (p.His1790=) c.5262T>C (p.His1754=) c.5241T>C (p.His1747=) c.4587T>C (p.His1529=) c.5535T>C (p.His1845=) c.5283T>C (p.His1761=) c.4029T>C (p.His1343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088505T>G | CA394315481 | TSC2 | c.*3668T>G (n.*3668T>G) c.5166T>G (p.His1722Gln) c.5316T>G (p.His1772Gln) c.*5832T>G (n.*5832T>G) c.*8068T>G (n.*8068T>G) c.5319T>G (p.His1773Gln) c.5250T>G (p.His1750Gln) c.5118T>G (p.His1706Gln) c.5151T>G (p.His1717Gln) c.1542T>G n.3201T>G c.3973T>G c.5178T>G (p.His1726Gln) n.916T>G c.5121T>G (p.His1707Gln) c.5187T>G (p.His1729Gln) c.5112T>G (p.His1704Gln) n.2967T>G c.5244T>G (p.His1748Gln) c.5190T>G (p.His1730Gln) c.5205T>G (p.His1735Gln) c.5115T>G (p.His1705Gln) c.5240T>G n.3403T>G c.5313T>G (p.His1771Gln) n.4134T>G n.2571T>G n.2542T>G n.2432T>G c.4974T>G (p.His1658Gln) c.*4486T>G (n.*4486T>G) c.5010T>G (p.His1670Gln) n.3042T>G c.1501T>G n.2434T>G c.5373T>G (p.His1791Gln) c.5370T>G (p.His1790Gln) c.5262T>G (p.His1754Gln) c.5241T>G (p.His1747Gln) c.4587T>G (p.His1529Gln) c.5535T>G (p.His1845Gln) c.5283T>G (p.His1761Gln) c.4029T>G (p.His1343Gln) | |
16 | g.2088505T= | CA2202033777 | TSC2 | c.*3668T= (n.*3668T=) c.5166T= (p.His1722=) c.5316T= (p.His1772=) c.*5832T= (n.*5832T=) c.*8068T= (n.*8068T=) c.5319T= (p.His1773=) c.5250T= (p.His1750=) c.5118T= (p.His1706=) c.5151T= (p.His1717=) c.1542T= n.3201T= c.3973T= c.5178T= (p.His1726=) n.916T= c.5121T= (p.His1707=) c.5187T= (p.His1729=) c.5112T= (p.His1704=) n.2967T= c.5244T= (p.His1748=) c.5190T= (p.His1730=) c.5205T= (p.His1735=) c.5115T= (p.His1705=) c.5240T= n.3403T= c.5313T= (p.His1771=) n.4134T= n.2571T= n.2542T= n.2432T= c.4974T= (p.His1658=) c.*4486T= (n.*4486T=) c.5010T= (p.His1670=) n.3042T= c.1501T= n.2434T= c.5373T= (p.His1791=) c.5370T= (p.His1790=) c.5262T= (p.His1754=) c.5241T= (p.His1747=) c.4587T= (p.His1529=) c.5535T= (p.His1845=) c.5283T= (p.His1761=) c.4029T= (p.His1343=) | |
16 | g.2088505_2088512delinsTAGCAAAG | CA2202033780 | TSC2 | c.*3668_*3675delinsTAGCAAAG (n.*3668_*3675delinsTAGCAAAG) c.5166_5173delinsTAGCAAAG (p.His1722=) c.5316_5323delinsTAGCAAAG (p.His1772=) c.*5832_*5839delinsTAGCAAAG (n.*5832_*5839delinsTAGCAAAG) c.*8068_*8075delinsTAGCAAAG (n.*8068_*8075delinsTAGCAAAG) c.5319_5326delinsTAGCAAAG (p.His1773=) c.5250_5257delinsTAGCAAAG (p.His1750=) c.5118_5125delinsTAGCAAAG (p.His1706=) c.5151_5158delinsTAGCAAAG (p.His1717=) c.1542_1549delinsTAGCAAAG n.3201_3208delinsTAGCAAAG c.3973_3980delinsTAGCAAAG c.5178_5185delinsTAGCAAAG (p.His1726=) n.916_923delinsTAGCAAAG c.5121_5128delinsTAGCAAAG (p.His1707=) c.5187_5194delinsTAGCAAAG (p.His1729=) c.5112_5119delinsTAGCAAAG (p.His1704=) n.2967_2974delinsTAGCAAAG c.5244_5251delinsTAGCAAAG (p.His1748=) c.5190_5197delinsTAGCAAAG (p.His1730=) c.5205_5212delinsTAGCAAAG (p.His1735=) c.5115_5122delinsTAGCAAAG (p.His1705=) c.5240_5247delinsTAGCAAAG n.3403_3410delinsTAGCAAAG c.5313_5320delinsTAGCAAAG (p.His1771=) n.4134_4141delinsTAGCAAAG n.2571_2578delinsTAGCAAAG n.2542_2549delinsTAGCAAAG n.2432_2439delinsTAGCAAAG c.4974_4981delinsTAGCAAAG (p.His1658=) c.*4486_*4493delinsTAGCAAAG (n.*4486_*4493delinsTAGCAAAG) c.5010_5017delinsTAGCAAAG (p.His1670=) n.3042_3049delinsTAGCAAAG c.1501_1508delinsTAGCAAAG n.2434_2441delinsTAGCAAAG c.5373_5380delinsTAGCAAAG (p.His1791=) c.5370_5377delinsTAGCAAAG (p.His1790=) c.5262_5269delinsTAGCAAAG (p.His1754=) c.5241_5248delinsTAGCAAAG (p.His1747=) c.4587_4594delinsTAGCAAAG (p.His1529=) c.5535_5542delinsTAGCAAAG (p.His1845=) c.5283_5290delinsTAGCAAAG (p.His1761=) c.4029_4036delinsTAGCAAAG (p.His1343=) | |
16 | g.2088506A= | CA2202033792 | TSC2 | c.*3669A= (n.*3669A=) c.5167A= (p.Ser1723=) c.5317A= (p.Ser1773=) c.*5833A= (n.*5833A=) c.*8069A= (n.*8069A=) c.5320A= (p.Ser1774=) c.5251A= (p.Ser1751=) c.5119A= (p.Ser1707=) c.5152A= (p.Ser1718=) c.1543A= n.3202A= c.3974A= c.5179A= (p.Ser1727=) n.917A= c.5122A= (p.Ser1708=) c.5188A= (p.Ser1730=) c.5113A= (p.Ser1705=) n.2968A= c.5245A= (p.Ser1749=) c.5191A= (p.Ser1731=) c.5206A= (p.Ser1736=) c.5116A= (p.Ser1706=) c.5241A= n.3404A= c.5314A= (p.Ser1772=) n.4135A= n.2572A= n.2543A= n.2433A= c.4975A= (p.Ser1659=) c.*4487A= (n.*4487A=) c.5011A= (p.Ser1671=) n.3043A= c.1502A= n.2435A= c.5374A= (p.Ser1792=) c.5371A= (p.Ser1791=) c.5263A= (p.Ser1755=) c.5242A= (p.Ser1748=) c.4588A= (p.Ser1530=) c.5536A= (p.Ser1846=) c.5284A= (p.Ser1762=) c.4030A= (p.Ser1344=) | |
16 | g.2088506A>C | CA394315492 | TSC2 | c.*3669A>C (n.*3669A>C) c.5167A>C (p.Ser1723Arg) c.5317A>C (p.Ser1773Arg) c.*5833A>C (n.*5833A>C) c.*8069A>C (n.*8069A>C) c.5320A>C (p.Ser1774Arg) c.5251A>C (p.Ser1751Arg) c.5119A>C (p.Ser1707Arg) c.5152A>C (p.Ser1718Arg) c.1543A>C n.3202A>C c.3974A>C c.5179A>C (p.Ser1727Arg) n.917A>C c.5122A>C (p.Ser1708Arg) c.5188A>C (p.Ser1730Arg) c.5113A>C (p.Ser1705Arg) n.2968A>C c.5245A>C (p.Ser1749Arg) c.5191A>C (p.Ser1731Arg) c.5206A>C (p.Ser1736Arg) c.5116A>C (p.Ser1706Arg) c.5241A>C n.3404A>C c.5314A>C (p.Ser1772Arg) n.4135A>C n.2572A>C n.2543A>C n.2433A>C c.4975A>C (p.Ser1659Arg) c.*4487A>C (n.*4487A>C) c.5011A>C (p.Ser1671Arg) n.3043A>C c.1502A>C n.2435A>C c.5374A>C (p.Ser1792Arg) c.5371A>C (p.Ser1791Arg) c.5263A>C (p.Ser1755Arg) c.5242A>C (p.Ser1748Arg) c.4588A>C (p.Ser1530Arg) c.5536A>C (p.Ser1846Arg) c.5284A>C (p.Ser1762Arg) c.4030A>C (p.Ser1344Arg) | ClinVar |
16 | g.2088506A>G | CA055089 | TSC2 | c.*3669A>G (n.*3669A>G) c.5167A>G (p.Ser1723Gly) c.5317A>G (p.Ser1773Gly) c.*5833A>G (n.*5833A>G) c.*8069A>G (n.*8069A>G) c.5320A>G (p.Ser1774Gly) c.5251A>G (p.Ser1751Gly) c.5119A>G (p.Ser1707Gly) c.5152A>G (p.Ser1718Gly) c.1543A>G n.3202A>G c.3974A>G c.5179A>G (p.Ser1727Gly) n.917A>G c.5122A>G (p.Ser1708Gly) c.5188A>G (p.Ser1730Gly) c.5113A>G (p.Ser1705Gly) n.2968A>G c.5245A>G (p.Ser1749Gly) c.5191A>G (p.Ser1731Gly) c.5206A>G (p.Ser1736Gly) c.5116A>G (p.Ser1706Gly) c.5241A>G n.3404A>G c.5314A>G (p.Ser1772Gly) n.4135A>G n.2572A>G n.2543A>G n.2433A>G c.4975A>G (p.Ser1659Gly) c.*4487A>G (n.*4487A>G) c.5011A>G (p.Ser1671Gly) n.3043A>G c.1502A>G n.2435A>G c.5374A>G (p.Ser1792Gly) c.5371A>G (p.Ser1791Gly) c.5263A>G (p.Ser1755Gly) c.5242A>G (p.Ser1748Gly) c.4588A>G (p.Ser1530Gly) c.5536A>G (p.Ser1846Gly) c.5284A>G (p.Ser1762Gly) c.4030A>G (p.Ser1344Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088506A>T | CA394315493 | TSC2 | c.*3669A>T (n.*3669A>T) c.5167A>T (p.Ser1723Cys) c.5317A>T (p.Ser1773Cys) c.*5833A>T (n.*5833A>T) c.*8069A>T (n.*8069A>T) c.5320A>T (p.Ser1774Cys) c.5251A>T (p.Ser1751Cys) c.5119A>T (p.Ser1707Cys) c.5152A>T (p.Ser1718Cys) c.1543A>T n.3202A>T c.3974A>T c.5179A>T (p.Ser1727Cys) n.917A>T c.5122A>T (p.Ser1708Cys) c.5188A>T (p.Ser1730Cys) c.5113A>T (p.Ser1705Cys) n.2968A>T c.5245A>T (p.Ser1749Cys) c.5191A>T (p.Ser1731Cys) c.5206A>T (p.Ser1736Cys) c.5116A>T (p.Ser1706Cys) c.5241A>T n.3404A>T c.5314A>T (p.Ser1772Cys) n.4135A>T n.2572A>T n.2543A>T n.2433A>T c.4975A>T (p.Ser1659Cys) c.*4487A>T (n.*4487A>T) c.5011A>T (p.Ser1671Cys) n.3043A>T c.1502A>T n.2435A>T c.5374A>T (p.Ser1792Cys) c.5371A>T (p.Ser1791Cys) c.5263A>T (p.Ser1755Cys) c.5242A>T (p.Ser1748Cys) c.4588A>T (p.Ser1530Cys) c.5536A>T (p.Ser1846Cys) c.5284A>T (p.Ser1762Cys) c.4030A>T (p.Ser1344Cys) | |
16 | g.2088506_2088512del | CA916081803 | TSC2 | c.*3669_*3675del (n.*3669_*3675del) c.5167_5173del (p.Ser1723ProfsTer?) c.5317_5323del (p.Ser1773ProfsTer?) c.*5833_*5839del (n.*5833_*5839del) c.*8069_*8075del (n.*8069_*8075del) c.5320_5326del (p.Ser1774ProfsTer?) c.5251_5257del (p.Ser1751ProfsTer?) c.5119_5125del (p.Ser1707ProfsTer?) c.5152_5158del (p.Ser1718ProfsTer?) c.1543_1549del n.3202_3208del c.3974_3980del c.5179_5185del (p.Ser1727ProfsTer?) n.917_923del c.5122_5128del (p.Ser1708ProfsTer?) c.5188_5194del (p.Ser1730ProfsTer?) c.5113_5119del (p.Ser1705ProfsTer?) n.2968_2974del c.5245_5251del (p.Ser1749ProfsTer?) c.5191_5197del (p.Ser1731ProfsTer?) c.5206_5212del (p.Ser1736ProfsTer?) c.5116_5122del (p.Ser1706ProfsTer?) c.5241_5247del n.3404_3410del c.5314_5320del (p.Ser1772ProfsTer?) n.4135_4141del n.2572_2578del n.2543_2549del n.2433_2439del c.4975_4981del (p.Ser1659ProfsTer?) c.*4487_*4493del (n.*4487_*4493del) c.5011_5017del (p.Ser1671ProfsTer?) n.3043_3049del c.1502_1508del n.2435_2441del c.5374_5380del (p.Ser1792ProfsTer?) c.5371_5377del (p.Ser1791ProfsTer?) c.5263_5269del (p.Ser1755ProfsTer?) c.5242_5248del (p.Ser1748ProfsTer?) c.4588_4594del (p.Ser1530ProfsTer?) c.5536_5542del (p.Ser1846ProfsTer?) c.5284_5290del (p.Ser1762ProfsTer?) c.4030_4036del (p.Ser1344ProfsTer?) | ClinVar dbSNP |
16 | g.2088507G>A | CA394315498 | TSC2 | c.*3670G>A (n.*3670G>A) c.5168G>A (p.Ser1723Asn) c.5318G>A (p.Ser1773Asn) c.*5834G>A (n.*5834G>A) c.*8070G>A (n.*8070G>A) c.5321G>A (p.Ser1774Asn) c.5252G>A (p.Ser1751Asn) c.5120G>A (p.Ser1707Asn) c.5153G>A (p.Ser1718Asn) c.1544G>A n.3203G>A c.3975G>A c.5180G>A (p.Ser1727Asn) n.918G>A c.5123G>A (p.Ser1708Asn) c.5189G>A (p.Ser1730Asn) c.5114G>A (p.Ser1705Asn) n.2969G>A c.5246G>A (p.Ser1749Asn) c.5192G>A (p.Ser1731Asn) c.5207G>A (p.Ser1736Asn) c.5117G>A (p.Ser1706Asn) c.5242G>A n.3405G>A c.5315G>A (p.Ser1772Asn) n.4136G>A n.2573G>A n.2544G>A n.2434G>A c.4976G>A (p.Ser1659Asn) c.*4488G>A (n.*4488G>A) c.5012G>A (p.Ser1671Asn) n.3044G>A c.1503G>A n.2436G>A c.5375G>A (p.Ser1792Asn) c.5372G>A (p.Ser1791Asn) c.5264G>A (p.Ser1755Asn) c.5243G>A (p.Ser1748Asn) c.4589G>A (p.Ser1530Asn) c.5537G>A (p.Ser1846Asn) c.5285G>A (p.Ser1762Asn) c.4031G>A (p.Ser1344Asn) | gnomAD v4 |
16 | g.2088507G>C | CA022390 | TSC2 | c.*3670G>C (n.*3670G>C) c.5168G>C (p.Ser1723Thr) c.5318G>C (p.Ser1773Thr) c.*5834G>C (n.*5834G>C) c.*8070G>C (n.*8070G>C) c.5321G>C (p.Ser1774Thr) c.5252G>C (p.Ser1751Thr) c.5120G>C (p.Ser1707Thr) c.5153G>C (p.Ser1718Thr) c.1544G>C n.3203G>C c.3975G>C c.5180G>C (p.Ser1727Thr) n.918G>C c.5123G>C (p.Ser1708Thr) c.5189G>C (p.Ser1730Thr) c.5114G>C (p.Ser1705Thr) n.2969G>C c.5246G>C (p.Ser1749Thr) c.5192G>C (p.Ser1731Thr) c.5207G>C (p.Ser1736Thr) c.5117G>C (p.Ser1706Thr) c.5242G>C n.3405G>C c.5315G>C (p.Ser1772Thr) n.4136G>C n.2573G>C n.2544G>C n.2434G>C c.4976G>C (p.Ser1659Thr) c.*4488G>C (n.*4488G>C) c.5012G>C (p.Ser1671Thr) n.3044G>C c.1503G>C n.2436G>C c.5375G>C (p.Ser1792Thr) c.5372G>C (p.Ser1791Thr) c.5264G>C (p.Ser1755Thr) c.5243G>C (p.Ser1748Thr) c.4589G>C (p.Ser1530Thr) c.5537G>C (p.Ser1846Thr) c.5285G>C (p.Ser1762Thr) c.4031G>C (p.Ser1344Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088507G= | CA2202033797 | TSC2 | c.*3670G= (n.*3670G=) c.5168G= (p.Ser1723=) c.5318G= (p.Ser1773=) c.*5834G= (n.*5834G=) c.*8070G= (n.*8070G=) c.5321G= (p.Ser1774=) c.5252G= (p.Ser1751=) c.5120G= (p.Ser1707=) c.5153G= (p.Ser1718=) c.1544G= n.3203G= c.3975G= c.5180G= (p.Ser1727=) n.918G= c.5123G= (p.Ser1708=) c.5189G= (p.Ser1730=) c.5114G= (p.Ser1705=) n.2969G= c.5246G= (p.Ser1749=) c.5192G= (p.Ser1731=) c.5207G= (p.Ser1736=) c.5117G= (p.Ser1706=) c.5242G= n.3405G= c.5315G= (p.Ser1772=) n.4136G= n.2573G= n.2544G= n.2434G= c.4976G= (p.Ser1659=) c.*4488G= (n.*4488G=) c.5012G= (p.Ser1671=) n.3044G= c.1503G= n.2436G= c.5375G= (p.Ser1792=) c.5372G= (p.Ser1791=) c.5264G= (p.Ser1755=) c.5243G= (p.Ser1748=) c.4589G= (p.Ser1530=) c.5537G= (p.Ser1846=) c.5285G= (p.Ser1762=) c.4031G= (p.Ser1344=) | |
16 | g.2088507G>T | CA394315512 | TSC2 | c.*3670G>T (n.*3670G>T) c.5168G>T (p.Ser1723Ile) c.5318G>T (p.Ser1773Ile) c.*5834G>T (n.*5834G>T) c.*8070G>T (n.*8070G>T) c.5321G>T (p.Ser1774Ile) c.5252G>T (p.Ser1751Ile) c.5120G>T (p.Ser1707Ile) c.5153G>T (p.Ser1718Ile) c.1544G>T n.3203G>T c.3975G>T c.5180G>T (p.Ser1727Ile) n.918G>T c.5123G>T (p.Ser1708Ile) c.5189G>T (p.Ser1730Ile) c.5114G>T (p.Ser1705Ile) n.2969G>T c.5246G>T (p.Ser1749Ile) c.5192G>T (p.Ser1731Ile) c.5207G>T (p.Ser1736Ile) c.5117G>T (p.Ser1706Ile) c.5242G>T n.3405G>T c.5315G>T (p.Ser1772Ile) n.4136G>T n.2573G>T n.2544G>T n.2434G>T c.4976G>T (p.Ser1659Ile) c.*4488G>T (n.*4488G>T) c.5012G>T (p.Ser1671Ile) n.3044G>T c.1503G>T n.2436G>T c.5375G>T (p.Ser1792Ile) c.5372G>T (p.Ser1791Ile) c.5264G>T (p.Ser1755Ile) c.5243G>T (p.Ser1748Ile) c.4589G>T (p.Ser1530Ile) c.5537G>T (p.Ser1846Ile) c.5285G>T (p.Ser1762Ile) c.4031G>T (p.Ser1344Ile) | ClinVar |
16 | g.2088507_2088515del | CA2631119489 | TSC2 | c.*3670_*3678del (n.*3670_*3678del) c.5168_5176del (p.Ser1723_Pro1726delinsThr) c.5318_5326del (p.Ser1773_Pro1776delinsThr) c.*5834_*5842del (n.*5834_*5842del) c.*8070_*8078del (n.*8070_*8078del) c.5321_5329del (p.Ser1774_Pro1777delinsThr) c.5252_5260del (p.Ser1751_Pro1754delinsThr) c.5120_5128del (p.Ser1707_Pro1710delinsThr) c.5153_5161del (p.Ser1718_Pro1721delinsThr) c.1544_1552del n.3203_3211del c.3975_3983del c.5180_5188del (p.Ser1727_Pro1730delinsThr) n.918_926del c.5123_5131del (p.Ser1708_Pro1711delinsThr) c.5189_5197del (p.Ser1730_Pro1733delinsThr) c.5114_5122del (p.Ser1705_Pro1708delinsThr) n.2969_2977del c.5246_5254del (p.Ser1749_Pro1752delinsThr) c.5192_5200del (p.Ser1731_Pro1734delinsThr) c.5207_5215del (p.Ser1736_Pro1739delinsThr) c.5117_5125del (p.Ser1706_Pro1709delinsThr) c.5242_5250del n.3405_3413del c.5315_5323del (p.Ser1772_Pro1775delinsThr) n.4136_4144del n.2573_2581del n.2544_2552del n.2434_2442del c.4976_4984del (p.Ser1659_Pro1662delinsThr) c.*4488_*4496del (n.*4488_*4496del) c.5012_5020del (p.Ser1671_Pro1674delinsThr) n.3044_3052del c.1503_1511del n.2436_2444del c.5375_5383del (p.Ser1792_Pro1795delinsThr) c.5372_5380del (p.Ser1791_Pro1794delinsThr) c.5264_5272del (p.Ser1755_Pro1758delinsThr) c.5243_5251del (p.Ser1748_Pro1751delinsThr) c.4589_4597del (p.Ser1530_Pro1533delinsThr) c.5537_5545del (p.Ser1846_Pro1849delinsThr) c.5285_5293del (p.Ser1762_Pro1765delinsThr) c.4031_4039del (p.Ser1344_Pro1347delinsThr) | gnomAD v4 |
16 | g.2088507_2088508insTTTTT | CA2631119492 | TSC2 | c.*3670_*3671insTTTTT (n.*3670_*3671insTTTTT) c.5168_5169insTTTTT (p.Lys1724PhefsTer?) c.5318_5319insTTTTT (p.Lys1774PhefsTer?) c.*5834_*5835insTTTTT (n.*5834_*5835insTTTTT) c.*8070_*8071insTTTTT (n.*8070_*8071insTTTTT) c.5321_5322insTTTTT (p.Lys1775PhefsTer?) c.5252_5253insTTTTT (p.Lys1752PhefsTer?) c.5120_5121insTTTTT (p.Lys1708PhefsTer?) c.5153_5154insTTTTT (p.Lys1719PhefsTer?) c.1544_1545insTTTTT n.3203_3204insTTTTT c.3975_3976insTTTTT c.5180_5181insTTTTT (p.Lys1728PhefsTer?) n.918_919insTTTTT c.5123_5124insTTTTT (p.Lys1709PhefsTer?) c.5189_5190insTTTTT (p.Lys1731PhefsTer?) c.5114_5115insTTTTT (p.Lys1706PhefsTer?) n.2969_2970insTTTTT c.5246_5247insTTTTT (p.Lys1750PhefsTer?) c.5192_5193insTTTTT (p.Lys1732PhefsTer?) c.5207_5208insTTTTT (p.Lys1737PhefsTer?) c.5117_5118insTTTTT (p.Lys1707PhefsTer?) c.5242_5243insTTTTT n.3405_3406insTTTTT c.5315_5316insTTTTT (p.Lys1773PhefsTer?) n.4136_4137insTTTTT n.2573_2574insTTTTT n.2544_2545insTTTTT n.2434_2435insTTTTT c.4976_4977insTTTTT (p.Lys1660PhefsTer?) c.*4488_*4489insTTTTT (n.*4488_*4489insTTTTT) c.5012_5013insTTTTT (p.Lys1672PhefsTer?) n.3044_3045insTTTTT c.1503_1504insTTTTT n.2436_2437insTTTTT c.5375_5376insTTTTT (p.Lys1793PhefsTer?) c.5372_5373insTTTTT (p.Lys1792PhefsTer?) c.5264_5265insTTTTT (p.Lys1756PhefsTer?) c.5243_5244insTTTTT (p.Lys1749PhefsTer?) c.4589_4590insTTTTT (p.Lys1531PhefsTer?) c.5537_5538insTTTTT (p.Lys1847PhefsTer?) c.5285_5286insTTTTT (p.Lys1763PhefsTer?) c.4031_4032insTTTTT (p.Lys1345PhefsTer?) | gnomAD v4 |
16 | g.2088508C>A | CA394315517 | TSC2 | c.*3671C>A (n.*3671C>A) c.5169C>A (p.Ser1723Arg) c.5319C>A (p.Ser1773Arg) c.*5835C>A (n.*5835C>A) c.*8071C>A (n.*8071C>A) c.5322C>A (p.Ser1774Arg) c.5253C>A (p.Ser1751Arg) c.5121C>A (p.Ser1707Arg) c.5154C>A (p.Ser1718Arg) c.1545C>A n.3204C>A c.3976C>A c.5181C>A (p.Ser1727Arg) n.919C>A c.5124C>A (p.Ser1708Arg) c.5190C>A (p.Ser1730Arg) c.5115C>A (p.Ser1705Arg) n.2970C>A c.5247C>A (p.Ser1749Arg) c.5193C>A (p.Ser1731Arg) c.5208C>A (p.Ser1736Arg) c.5118C>A (p.Ser1706Arg) c.5243C>A n.3406C>A c.5316C>A (p.Ser1772Arg) n.4137C>A n.2574C>A n.2545C>A n.2435C>A c.4977C>A (p.Ser1659Arg) c.*4489C>A (n.*4489C>A) c.5013C>A (p.Ser1671Arg) n.3045C>A c.1504C>A n.2437C>A c.5376C>A (p.Ser1792Arg) c.5373C>A (p.Ser1791Arg) c.5265C>A (p.Ser1755Arg) c.5244C>A (p.Ser1748Arg) c.4590C>A (p.Ser1530Arg) c.5538C>A (p.Ser1846Arg) c.5286C>A (p.Ser1762Arg) c.4032C>A (p.Ser1344Arg) | |
16 | g.2088508C= | CA2202033806 | TSC2 | c.*3671C= (n.*3671C=) c.5169C= (p.Ser1723=) c.5319C= (p.Ser1773=) c.*5835C= (n.*5835C=) c.*8071C= (n.*8071C=) c.5322C= (p.Ser1774=) c.5253C= (p.Ser1751=) c.5121C= (p.Ser1707=) c.5154C= (p.Ser1718=) c.1545C= n.3204C= c.3976C= c.5181C= (p.Ser1727=) n.919C= c.5124C= (p.Ser1708=) c.5190C= (p.Ser1730=) c.5115C= (p.Ser1705=) n.2970C= c.5247C= (p.Ser1749=) c.5193C= (p.Ser1731=) c.5208C= (p.Ser1736=) c.5118C= (p.Ser1706=) c.5243C= n.3406C= c.5316C= (p.Ser1772=) n.4137C= n.2574C= n.2545C= n.2435C= c.4977C= (p.Ser1659=) c.*4489C= (n.*4489C=) c.5013C= (p.Ser1671=) n.3045C= c.1504C= n.2437C= c.5376C= (p.Ser1792=) c.5373C= (p.Ser1791=) c.5265C= (p.Ser1755=) c.5244C= (p.Ser1748=) c.4590C= (p.Ser1530=) c.5538C= (p.Ser1846=) c.5286C= (p.Ser1762=) c.4032C= (p.Ser1344=) | |
16 | g.2088508C>G | CA055113 | TSC2 | c.*3671C>G (n.*3671C>G) c.5169C>G (p.Ser1723Arg) c.5319C>G (p.Ser1773Arg) c.*5835C>G (n.*5835C>G) c.*8071C>G (n.*8071C>G) c.5322C>G (p.Ser1774Arg) c.5253C>G (p.Ser1751Arg) c.5121C>G (p.Ser1707Arg) c.5154C>G (p.Ser1718Arg) c.1545C>G n.3204C>G c.3976C>G c.5181C>G (p.Ser1727Arg) n.919C>G c.5124C>G (p.Ser1708Arg) c.5190C>G (p.Ser1730Arg) c.5115C>G (p.Ser1705Arg) n.2970C>G c.5247C>G (p.Ser1749Arg) c.5193C>G (p.Ser1731Arg) c.5208C>G (p.Ser1736Arg) c.5118C>G (p.Ser1706Arg) c.5243C>G n.3406C>G c.5316C>G (p.Ser1772Arg) n.4137C>G n.2574C>G n.2545C>G n.2435C>G c.4977C>G (p.Ser1659Arg) c.*4489C>G (n.*4489C>G) c.5013C>G (p.Ser1671Arg) n.3045C>G c.1504C>G n.2437C>G c.5376C>G (p.Ser1792Arg) c.5373C>G (p.Ser1791Arg) c.5265C>G (p.Ser1755Arg) c.5244C>G (p.Ser1748Arg) c.4590C>G (p.Ser1530Arg) c.5538C>G (p.Ser1846Arg) c.5286C>G (p.Ser1762Arg) c.4032C>G (p.Ser1344Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088508C>T | CA493043707 | TSC2 | c.*3671C>T (n.*3671C>T) c.5169C>T (p.Ser1723=) c.5319C>T (p.Ser1773=) c.*5835C>T (n.*5835C>T) c.*8071C>T (n.*8071C>T) c.5322C>T (p.Ser1774=) c.5253C>T (p.Ser1751=) c.5121C>T (p.Ser1707=) c.5154C>T (p.Ser1718=) c.1545C>T n.3204C>T c.3976C>T c.5181C>T (p.Ser1727=) n.919C>T c.5124C>T (p.Ser1708=) c.5190C>T (p.Ser1730=) c.5115C>T (p.Ser1705=) n.2970C>T c.5247C>T (p.Ser1749=) c.5193C>T (p.Ser1731=) c.5208C>T (p.Ser1736=) c.5118C>T (p.Ser1706=) c.5243C>T n.3406C>T c.5316C>T (p.Ser1772=) n.4137C>T n.2574C>T n.2545C>T n.2435C>T c.4977C>T (p.Ser1659=) c.*4489C>T (n.*4489C>T) c.5013C>T (p.Ser1671=) n.3045C>T c.1504C>T n.2437C>T c.5376C>T (p.Ser1792=) c.5373C>T (p.Ser1791=) c.5265C>T (p.Ser1755=) c.5244C>T (p.Ser1748=) c.4590C>T (p.Ser1530=) c.5538C>T (p.Ser1846=) c.5286C>T (p.Ser1762=) c.4032C>T (p.Ser1344=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088509A= | CA2202033815 | TSC2 | c.*3672A= (n.*3672A=) c.5170A= (p.Lys1724=) c.5320A= (p.Lys1774=) c.*5836A= (n.*5836A=) c.*8072A= (n.*8072A=) c.5323A= (p.Lys1775=) c.5254A= (p.Lys1752=) c.5122A= (p.Lys1708=) c.5155A= (p.Lys1719=) c.1546A= n.3205A= c.3977A= c.5182A= (p.Lys1728=) n.920A= c.5125A= (p.Lys1709=) c.5191A= (p.Lys1731=) c.5116A= (p.Lys1706=) n.2971A= c.5248A= (p.Lys1750=) c.5194A= (p.Lys1732=) c.5209A= (p.Lys1737=) c.5119A= (p.Lys1707=) c.5244A= n.3407A= c.5317A= (p.Lys1773=) n.4138A= n.2575A= n.2546A= n.2436A= c.4978A= (p.Lys1660=) c.*4490A= (n.*4490A=) c.5014A= (p.Lys1672=) n.3046A= c.1505A= n.2438A= c.5377A= (p.Lys1793=) c.5374A= (p.Lys1792=) c.5266A= (p.Lys1756=) c.5245A= (p.Lys1749=) c.4591A= (p.Lys1531=) c.5539A= (p.Lys1847=) c.5287A= (p.Lys1763=) c.4033A= (p.Lys1345=) | |
16 | g.2088509A>C | CA394315518 | TSC2 | c.*3672A>C (n.*3672A>C) c.5170A>C (p.Lys1724Gln) c.5320A>C (p.Lys1774Gln) c.*5836A>C (n.*5836A>C) c.*8072A>C (n.*8072A>C) c.5323A>C (p.Lys1775Gln) c.5254A>C (p.Lys1752Gln) c.5122A>C (p.Lys1708Gln) c.5155A>C (p.Lys1719Gln) c.1546A>C n.3205A>C c.3977A>C c.5182A>C (p.Lys1728Gln) n.920A>C c.5125A>C (p.Lys1709Gln) c.5191A>C (p.Lys1731Gln) c.5116A>C (p.Lys1706Gln) n.2971A>C c.5248A>C (p.Lys1750Gln) c.5194A>C (p.Lys1732Gln) c.5209A>C (p.Lys1737Gln) c.5119A>C (p.Lys1707Gln) c.5244A>C n.3407A>C c.5317A>C (p.Lys1773Gln) n.4138A>C n.2575A>C n.2546A>C n.2436A>C c.4978A>C (p.Lys1660Gln) c.*4490A>C (n.*4490A>C) c.5014A>C (p.Lys1672Gln) n.3046A>C c.1505A>C n.2438A>C c.5377A>C (p.Lys1793Gln) c.5374A>C (p.Lys1792Gln) c.5266A>C (p.Lys1756Gln) c.5245A>C (p.Lys1749Gln) c.4591A>C (p.Lys1531Gln) c.5539A>C (p.Lys1847Gln) c.5287A>C (p.Lys1763Gln) c.4033A>C (p.Lys1345Gln) | |
16 | g.2088509A>G | CA394315520 | TSC2 | c.*3672A>G (n.*3672A>G) c.5170A>G (p.Lys1724Glu) c.5320A>G (p.Lys1774Glu) c.*5836A>G (n.*5836A>G) c.*8072A>G (n.*8072A>G) c.5323A>G (p.Lys1775Glu) c.5254A>G (p.Lys1752Glu) c.5122A>G (p.Lys1708Glu) c.5155A>G (p.Lys1719Glu) c.1546A>G n.3205A>G c.3977A>G c.5182A>G (p.Lys1728Glu) n.920A>G c.5125A>G (p.Lys1709Glu) c.5191A>G (p.Lys1731Glu) c.5116A>G (p.Lys1706Glu) n.2971A>G c.5248A>G (p.Lys1750Glu) c.5194A>G (p.Lys1732Glu) c.5209A>G (p.Lys1737Glu) c.5119A>G (p.Lys1707Glu) c.5244A>G n.3407A>G c.5317A>G (p.Lys1773Glu) n.4138A>G n.2575A>G n.2546A>G n.2436A>G c.4978A>G (p.Lys1660Glu) c.*4490A>G (n.*4490A>G) c.5014A>G (p.Lys1672Glu) n.3046A>G c.1505A>G n.2438A>G c.5377A>G (p.Lys1793Glu) c.5374A>G (p.Lys1792Glu) c.5266A>G (p.Lys1756Glu) c.5245A>G (p.Lys1749Glu) c.4591A>G (p.Lys1531Glu) c.5539A>G (p.Lys1847Glu) c.5287A>G (p.Lys1763Glu) c.4033A>G (p.Lys1345Glu) | |
16 | g.2088509A>T | CA394315526 | TSC2 | c.*3672A>T (n.*3672A>T) c.5170A>T (p.Lys1724Ter) c.5320A>T (p.Lys1774Ter) c.*5836A>T (n.*5836A>T) c.*8072A>T (n.*8072A>T) c.5323A>T (p.Lys1775Ter) c.5254A>T (p.Lys1752Ter) c.5122A>T (p.Lys1708Ter) c.5155A>T (p.Lys1719Ter) c.1546A>T n.3205A>T c.3977A>T c.5182A>T (p.Lys1728Ter) n.920A>T c.5125A>T (p.Lys1709Ter) c.5191A>T (p.Lys1731Ter) c.5116A>T (p.Lys1706Ter) n.2971A>T c.5248A>T (p.Lys1750Ter) c.5194A>T (p.Lys1732Ter) c.5209A>T (p.Lys1737Ter) c.5119A>T (p.Lys1707Ter) c.5244A>T n.3407A>T c.5317A>T (p.Lys1773Ter) n.4138A>T n.2575A>T n.2546A>T n.2436A>T c.4978A>T (p.Lys1660Ter) c.*4490A>T (n.*4490A>T) c.5014A>T (p.Lys1672Ter) n.3046A>T c.1505A>T n.2438A>T c.5377A>T (p.Lys1793Ter) c.5374A>T (p.Lys1792Ter) c.5266A>T (p.Lys1756Ter) c.5245A>T (p.Lys1749Ter) c.4591A>T (p.Lys1531Ter) c.5539A>T (p.Lys1847Ter) c.5287A>T (p.Lys1763Ter) c.4033A>T (p.Lys1345Ter) | dbSNP |
16 | g.2088510_2088511dup | CA2573054168 | TSC2 | c.*3673_*3674dup (n.*3673_*3674dup) c.5171_5172dup (p.Ala1725LysfsTer?) c.5321_5322dup (p.Ala1775LysfsTer?) c.*5837_*5838dup (n.*5837_*5838dup) c.*8073_*8074dup (n.*8073_*8074dup) c.5324_5325dup (p.Ala1776LysfsTer?) c.5255_5256dup (p.Ala1753LysfsTer?) c.5123_5124dup (p.Ala1709LysfsTer?) c.5156_5157dup (p.Ala1720LysfsTer?) c.1547_1548dup n.3206_3207dup c.3978_3979dup c.5183_5184dup (p.Ala1729LysfsTer?) n.921_922dup c.5126_5127dup (p.Ala1710LysfsTer?) c.5192_5193dup (p.Ala1732LysfsTer?) c.5117_5118dup (p.Ala1707LysfsTer?) n.2972_2973dup c.5249_5250dup (p.Ala1751LysfsTer?) c.5195_5196dup (p.Ala1733LysfsTer?) c.5210_5211dup (p.Ala1738LysfsTer?) c.5120_5121dup (p.Ala1708LysfsTer?) c.5245_5246dup n.3408_3409dup c.5318_5319dup (p.Ala1774LysfsTer?) n.4139_4140dup n.2576_2577dup n.2547_2548dup n.2437_2438dup c.4979_4980dup (p.Ala1661LysfsTer?) c.*4491_*4492dup (n.*4491_*4492dup) c.5015_5016dup (p.Ala1673LysfsTer?) n.3047_3048dup c.1506_1507dup n.2439_2440dup c.5378_5379dup (p.Ala1794LysfsTer?) c.5375_5376dup (p.Ala1793LysfsTer?) c.5267_5268dup (p.Ala1757LysfsTer?) c.5246_5247dup (p.Ala1750LysfsTer?) c.4592_4593dup (p.Ala1532LysfsTer?) c.5540_5541dup (p.Ala1848LysfsTer?) c.5288_5289dup (p.Ala1764LysfsTer?) c.4034_4035dup (p.Ala1346LysfsTer?) | ClinVar dbSNP |
16 | g.2088510A>C | CA394315531 | TSC2 | c.*3673A>C (n.*3673A>C) c.5171A>C (p.Lys1724Thr) c.5321A>C (p.Lys1774Thr) c.*5837A>C (n.*5837A>C) c.*8073A>C (n.*8073A>C) c.5324A>C (p.Lys1775Thr) c.5255A>C (p.Lys1752Thr) c.5123A>C (p.Lys1708Thr) c.5156A>C (p.Lys1719Thr) c.1547A>C n.3206A>C c.3978A>C c.5183A>C (p.Lys1728Thr) n.921A>C c.5126A>C (p.Lys1709Thr) c.5192A>C (p.Lys1731Thr) c.5117A>C (p.Lys1706Thr) n.2972A>C c.5249A>C (p.Lys1750Thr) c.5195A>C (p.Lys1732Thr) c.5210A>C (p.Lys1737Thr) c.5120A>C (p.Lys1707Thr) c.5245A>C n.3408A>C c.5318A>C (p.Lys1773Thr) n.4139A>C n.2576A>C n.2547A>C n.2437A>C c.4979A>C (p.Lys1660Thr) c.*4491A>C (n.*4491A>C) c.5015A>C (p.Lys1672Thr) n.3047A>C c.1506A>C n.2439A>C c.5378A>C (p.Lys1793Thr) c.5375A>C (p.Lys1792Thr) c.5267A>C (p.Lys1756Thr) c.5246A>C (p.Lys1749Thr) c.4592A>C (p.Lys1531Thr) c.5540A>C (p.Lys1847Thr) c.5288A>C (p.Lys1763Thr) c.4034A>C (p.Lys1345Thr) | |
16 | g.2088510A>G | CA394315533 | TSC2 | c.*3673A>G (n.*3673A>G) c.5171A>G (p.Lys1724Arg) c.5321A>G (p.Lys1774Arg) c.*5837A>G (n.*5837A>G) c.*8073A>G (n.*8073A>G) c.5324A>G (p.Lys1775Arg) c.5255A>G (p.Lys1752Arg) c.5123A>G (p.Lys1708Arg) c.5156A>G (p.Lys1719Arg) c.1547A>G n.3206A>G c.3978A>G c.5183A>G (p.Lys1728Arg) n.921A>G c.5126A>G (p.Lys1709Arg) c.5192A>G (p.Lys1731Arg) c.5117A>G (p.Lys1706Arg) n.2972A>G c.5249A>G (p.Lys1750Arg) c.5195A>G (p.Lys1732Arg) c.5210A>G (p.Lys1737Arg) c.5120A>G (p.Lys1707Arg) c.5245A>G n.3408A>G c.5318A>G (p.Lys1773Arg) n.4139A>G n.2576A>G n.2547A>G n.2437A>G c.4979A>G (p.Lys1660Arg) c.*4491A>G (n.*4491A>G) c.5015A>G (p.Lys1672Arg) n.3047A>G c.1506A>G n.2439A>G c.5378A>G (p.Lys1793Arg) c.5375A>G (p.Lys1792Arg) c.5267A>G (p.Lys1756Arg) c.5246A>G (p.Lys1749Arg) c.4592A>G (p.Lys1531Arg) c.5540A>G (p.Lys1847Arg) c.5288A>G (p.Lys1763Arg) c.4034A>G (p.Lys1345Arg) | |
16 | g.2088510A>T | CA394315535 | TSC2 | c.*3673A>T (n.*3673A>T) c.5171A>T (p.Lys1724Ile) c.5321A>T (p.Lys1774Ile) c.*5837A>T (n.*5837A>T) c.*8073A>T (n.*8073A>T) c.5324A>T (p.Lys1775Ile) c.5255A>T (p.Lys1752Ile) c.5123A>T (p.Lys1708Ile) c.5156A>T (p.Lys1719Ile) c.1547A>T n.3206A>T c.3978A>T c.5183A>T (p.Lys1728Ile) n.921A>T c.5126A>T (p.Lys1709Ile) c.5192A>T (p.Lys1731Ile) c.5117A>T (p.Lys1706Ile) n.2972A>T c.5249A>T (p.Lys1750Ile) c.5195A>T (p.Lys1732Ile) c.5210A>T (p.Lys1737Ile) c.5120A>T (p.Lys1707Ile) c.5245A>T n.3408A>T c.5318A>T (p.Lys1773Ile) n.4139A>T n.2576A>T n.2547A>T n.2437A>T c.4979A>T (p.Lys1660Ile) c.*4491A>T (n.*4491A>T) c.5015A>T (p.Lys1672Ile) n.3047A>T c.1506A>T n.2439A>T c.5378A>T (p.Lys1793Ile) c.5375A>T (p.Lys1792Ile) c.5267A>T (p.Lys1756Ile) c.5246A>T (p.Lys1749Ile) c.4592A>T (p.Lys1531Ile) c.5540A>T (p.Lys1847Ile) c.5288A>T (p.Lys1763Ile) c.4034A>T (p.Lys1345Ile) | |
16 | g.2088511A>C | CA394315540 | TSC2 | c.*3674A>C (n.*3674A>C) c.5172A>C (p.Lys1724Asn) c.5322A>C (p.Lys1774Asn) c.*5838A>C (n.*5838A>C) c.*8074A>C (n.*8074A>C) c.5325A>C (p.Lys1775Asn) c.5256A>C (p.Lys1752Asn) c.5124A>C (p.Lys1708Asn) c.5157A>C (p.Lys1719Asn) c.1548A>C n.3207A>C c.3979A>C c.5184A>C (p.Lys1728Asn) n.922A>C c.5127A>C (p.Lys1709Asn) c.5193A>C (p.Lys1731Asn) c.5118A>C (p.Lys1706Asn) n.2973A>C c.5250A>C (p.Lys1750Asn) c.5196A>C (p.Lys1732Asn) c.5211A>C (p.Lys1737Asn) c.5121A>C (p.Lys1707Asn) c.5246A>C n.3409A>C c.5319A>C (p.Lys1773Asn) n.4140A>C n.2577A>C n.2548A>C n.2438A>C c.4980A>C (p.Lys1660Asn) c.*4492A>C (n.*4492A>C) c.5016A>C (p.Lys1672Asn) n.3048A>C c.1507A>C n.2440A>C c.5379A>C (p.Lys1793Asn) c.5376A>C (p.Lys1792Asn) c.5268A>C (p.Lys1756Asn) c.5247A>C (p.Lys1749Asn) c.4593A>C (p.Lys1531Asn) c.5541A>C (p.Lys1847Asn) c.5289A>C (p.Lys1763Asn) c.4035A>C (p.Lys1345Asn) | ClinVar |
16 | g.2088511A>G | CA493043708 | TSC2 | c.*3674A>G (n.*3674A>G) c.5172A>G (p.Lys1724=) c.5322A>G (p.Lys1774=) c.*5838A>G (n.*5838A>G) c.*8074A>G (n.*8074A>G) c.5325A>G (p.Lys1775=) c.5256A>G (p.Lys1752=) c.5124A>G (p.Lys1708=) c.5157A>G (p.Lys1719=) c.1548A>G n.3207A>G c.3979A>G c.5184A>G (p.Lys1728=) n.922A>G c.5127A>G (p.Lys1709=) c.5193A>G (p.Lys1731=) c.5118A>G (p.Lys1706=) n.2973A>G c.5250A>G (p.Lys1750=) c.5196A>G (p.Lys1732=) c.5211A>G (p.Lys1737=) c.5121A>G (p.Lys1707=) c.5246A>G n.3409A>G c.5319A>G (p.Lys1773=) n.4140A>G n.2577A>G n.2548A>G n.2438A>G c.4980A>G (p.Lys1660=) c.*4492A>G (n.*4492A>G) c.5016A>G (p.Lys1672=) n.3048A>G c.1507A>G n.2440A>G c.5379A>G (p.Lys1793=) c.5376A>G (p.Lys1792=) c.5268A>G (p.Lys1756=) c.5247A>G (p.Lys1749=) c.4593A>G (p.Lys1531=) c.5541A>G (p.Lys1847=) c.5289A>G (p.Lys1763=) c.4035A>G (p.Lys1345=) | |
16 | g.2088511A>T | CA394315538 | TSC2 | c.*3674A>T (n.*3674A>T) c.5172A>T (p.Lys1724Asn) c.5322A>T (p.Lys1774Asn) c.*5838A>T (n.*5838A>T) c.*8074A>T (n.*8074A>T) c.5325A>T (p.Lys1775Asn) c.5256A>T (p.Lys1752Asn) c.5124A>T (p.Lys1708Asn) c.5157A>T (p.Lys1719Asn) c.1548A>T n.3207A>T c.3979A>T c.5184A>T (p.Lys1728Asn) n.922A>T c.5127A>T (p.Lys1709Asn) c.5193A>T (p.Lys1731Asn) c.5118A>T (p.Lys1706Asn) n.2973A>T c.5250A>T (p.Lys1750Asn) c.5196A>T (p.Lys1732Asn) c.5211A>T (p.Lys1737Asn) c.5121A>T (p.Lys1707Asn) c.5246A>T n.3409A>T c.5319A>T (p.Lys1773Asn) n.4140A>T n.2577A>T n.2548A>T n.2438A>T c.4980A>T (p.Lys1660Asn) c.*4492A>T (n.*4492A>T) c.5016A>T (p.Lys1672Asn) n.3048A>T c.1507A>T n.2440A>T c.5379A>T (p.Lys1793Asn) c.5376A>T (p.Lys1792Asn) c.5268A>T (p.Lys1756Asn) c.5247A>T (p.Lys1749Asn) c.4593A>T (p.Lys1531Asn) c.5541A>T (p.Lys1847Asn) c.5289A>T (p.Lys1763Asn) c.4035A>T (p.Lys1345Asn) | dbSNP |
16 | g.2088511_2088516del | CA2631119494 | TSC2 | c.*3674_*3679del (n.*3674_*3679del) c.5172_5177del (p.Lys1724_Pro1726delinsAsn) c.5322_5327del (p.Lys1774_Pro1776delinsAsn) c.*5838_*5843del (n.*5838_*5843del) c.*8074_*8079del (n.*8074_*8079del) c.5325_5330del (p.Lys1775_Pro1777delinsAsn) c.5256_5261del (p.Lys1752_Pro1754delinsAsn) c.5124_5129del (p.Lys1708_Pro1710delinsAsn) c.5157_5162del (p.Lys1719_Pro1721delinsAsn) c.1548_1553del n.3207_3212del c.3979_3984del c.5184_5189del (p.Lys1728_Pro1730delinsAsn) n.922_927del c.5127_5132del (p.Lys1709_Pro1711delinsAsn) c.5193_5198del (p.Lys1731_Pro1733delinsAsn) c.5118_5123del (p.Lys1706_Pro1708delinsAsn) n.2973_2978del c.5250_5255del (p.Lys1750_Pro1752delinsAsn) c.5196_5201del (p.Lys1732_Pro1734delinsAsn) c.5211_5216del (p.Lys1737_Pro1739delinsAsn) c.5121_5126del (p.Lys1707_Pro1709delinsAsn) c.5246_5251del n.3409_3414del c.5319_5324del (p.Lys1773_Pro1775delinsAsn) n.4140_4145del n.2577_2582del n.2548_2553del n.2438_2443del c.4980_4985del (p.Lys1660_Pro1662delinsAsn) c.*4492_*4497del (n.*4492_*4497del) c.5016_5021del (p.Lys1672_Pro1674delinsAsn) n.3048_3053del c.1507_1512del n.2440_2445del c.5379_5384del (p.Lys1793_Pro1795delinsAsn) c.5376_5381del (p.Lys1792_Pro1794delinsAsn) c.5268_5273del (p.Lys1756_Pro1758delinsAsn) c.5247_5252del (p.Lys1749_Pro1751delinsAsn) c.4593_4598del (p.Lys1531_Pro1533delinsAsn) c.5541_5546del (p.Lys1847_Pro1849delinsAsn) c.5289_5294del (p.Lys1763_Pro1765delinsAsn) c.4035_4040del (p.Lys1345_Pro1347delinsAsn) | gnomAD v4 |
16 | g.2088512G>A | CA394315543 | TSC2 | c.*3675G>A (n.*3675G>A) c.5173G>A (p.Ala1725Thr) c.5323G>A (p.Ala1775Thr) c.*5839G>A (n.*5839G>A) c.*8075G>A (n.*8075G>A) c.5326G>A (p.Ala1776Thr) c.5257G>A (p.Ala1753Thr) c.5125G>A (p.Ala1709Thr) c.5158G>A (p.Ala1720Thr) c.1549G>A n.3208G>A c.3980G>A c.5185G>A (p.Ala1729Thr) n.923G>A c.5128G>A (p.Ala1710Thr) c.5194G>A (p.Ala1732Thr) c.5119G>A (p.Ala1707Thr) n.2974G>A c.5251G>A (p.Ala1751Thr) c.5197G>A (p.Ala1733Thr) c.5212G>A (p.Ala1738Thr) c.5122G>A (p.Ala1708Thr) c.5247G>A n.3410G>A c.5320G>A (p.Ala1774Thr) n.4141G>A n.2578G>A n.2549G>A n.2439G>A c.4981G>A (p.Ala1661Thr) c.*4493G>A (n.*4493G>A) c.5017G>A (p.Ala1673Thr) n.3049G>A c.1508G>A n.2441G>A c.5380G>A (p.Ala1794Thr) c.5377G>A (p.Ala1793Thr) c.5269G>A (p.Ala1757Thr) c.5248G>A (p.Ala1750Thr) c.4594G>A (p.Ala1532Thr) c.5542G>A (p.Ala1848Thr) c.5290G>A (p.Ala1764Thr) c.4036G>A (p.Ala1346Thr) | |
16 | g.2088512G>C | CA394315545 | TSC2 | c.*3675G>C (n.*3675G>C) c.5173G>C (p.Ala1725Pro) c.5323G>C (p.Ala1775Pro) c.*5839G>C (n.*5839G>C) c.*8075G>C (n.*8075G>C) c.5326G>C (p.Ala1776Pro) c.5257G>C (p.Ala1753Pro) c.5125G>C (p.Ala1709Pro) c.5158G>C (p.Ala1720Pro) c.1549G>C n.3208G>C c.3980G>C c.5185G>C (p.Ala1729Pro) n.923G>C c.5128G>C (p.Ala1710Pro) c.5194G>C (p.Ala1732Pro) c.5119G>C (p.Ala1707Pro) n.2974G>C c.5251G>C (p.Ala1751Pro) c.5197G>C (p.Ala1733Pro) c.5212G>C (p.Ala1738Pro) c.5122G>C (p.Ala1708Pro) c.5247G>C n.3410G>C c.5320G>C (p.Ala1774Pro) n.4141G>C n.2578G>C n.2549G>C n.2439G>C c.4981G>C (p.Ala1661Pro) c.*4493G>C (n.*4493G>C) c.5017G>C (p.Ala1673Pro) n.3049G>C c.1508G>C n.2441G>C c.5380G>C (p.Ala1794Pro) c.5377G>C (p.Ala1793Pro) c.5269G>C (p.Ala1757Pro) c.5248G>C (p.Ala1750Pro) c.4594G>C (p.Ala1532Pro) c.5542G>C (p.Ala1848Pro) c.5290G>C (p.Ala1764Pro) c.4036G>C (p.Ala1346Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.2088512G>T | CA394315549 | TSC2 | c.*3675G>T (n.*3675G>T) c.5173G>T (p.Ala1725Ser) c.5323G>T (p.Ala1775Ser) c.*5839G>T (n.*5839G>T) c.*8075G>T (n.*8075G>T) c.5326G>T (p.Ala1776Ser) c.5257G>T (p.Ala1753Ser) c.5125G>T (p.Ala1709Ser) c.5158G>T (p.Ala1720Ser) c.1549G>T n.3208G>T c.3980G>T c.5185G>T (p.Ala1729Ser) n.923G>T c.5128G>T (p.Ala1710Ser) c.5194G>T (p.Ala1732Ser) c.5119G>T (p.Ala1707Ser) n.2974G>T c.5251G>T (p.Ala1751Ser) c.5197G>T (p.Ala1733Ser) c.5212G>T (p.Ala1738Ser) c.5122G>T (p.Ala1708Ser) c.5247G>T n.3410G>T c.5320G>T (p.Ala1774Ser) n.4141G>T n.2578G>T n.2549G>T n.2439G>T c.4981G>T (p.Ala1661Ser) c.*4493G>T (n.*4493G>T) c.5017G>T (p.Ala1673Ser) n.3049G>T c.1508G>T n.2441G>T c.5380G>T (p.Ala1794Ser) c.5377G>T (p.Ala1793Ser) c.5269G>T (p.Ala1757Ser) c.5248G>T (p.Ala1750Ser) c.4594G>T (p.Ala1532Ser) c.5542G>T (p.Ala1848Ser) c.5290G>T (p.Ala1764Ser) c.4036G>T (p.Ala1346Ser) | ClinVar |
16 | g.2088512_2088513delinsGC | CA2202033824 | TSC2 | c.*3675_*3676delinsGC (n.*3675_*3676delinsGC) c.5173_5174delinsGC (p.Ala1725=) c.5323_5324delinsGC (p.Ala1775=) c.*5839_*5840delinsGC (n.*5839_*5840delinsGC) c.*8075_*8076delinsGC (n.*8075_*8076delinsGC) c.5326_5327delinsGC (p.Ala1776=) c.5257_5258delinsGC (p.Ala1753=) c.5125_5126delinsGC (p.Ala1709=) c.5158_5159delinsGC (p.Ala1720=) c.1549_1550delinsGC n.3208_3209delinsGC c.3980_3981delinsGC c.5185_5186delinsGC (p.Ala1729=) n.923_924delinsGC c.5128_5129delinsGC (p.Ala1710=) c.5194_5195delinsGC (p.Ala1732=) c.5119_5120delinsGC (p.Ala1707=) n.2974_2975delinsGC c.5251_5252delinsGC (p.Ala1751=) c.5197_5198delinsGC (p.Ala1733=) c.5212_5213delinsGC (p.Ala1738=) c.5122_5123delinsGC (p.Ala1708=) c.5247_5248delinsGC n.3410_3411delinsGC c.5320_5321delinsGC (p.Ala1774=) n.4141_4142delinsGC n.2578_2579delinsGC n.2549_2550delinsGC n.2439_2440delinsGC c.4981_4982delinsGC (p.Ala1661=) c.*4493_*4494delinsGC (n.*4493_*4494delinsGC) c.5017_5018delinsGC (p.Ala1673=) n.3049_3050delinsGC c.1508_1509delinsGC n.2441_2442delinsGC c.5380_5381delinsGC (p.Ala1794=) c.5377_5378delinsGC (p.Ala1793=) c.5269_5270delinsGC (p.Ala1757=) c.5248_5249delinsGC (p.Ala1750=) c.4594_4595delinsGC (p.Ala1532=) c.5542_5543delinsGC (p.Ala1848=) c.5290_5291delinsGC (p.Ala1764=) c.4036_4037delinsGC (p.Ala1346=) | |
16 | g.2088512_2088513delinsTT | CA1139664257 | TSC2 | c.*3675_*3676delinsTT (n.*3675_*3676delinsTT) c.5173_5174delinsTT (p.Ala1725Phe) c.5323_5324delinsTT (p.Ala1775Phe) c.*5839_*5840delinsTT (n.*5839_*5840delinsTT) c.*8075_*8076delinsTT (n.*8075_*8076delinsTT) c.5326_5327delinsTT (p.Ala1776Phe) c.5257_5258delinsTT (p.Ala1753Phe) c.5125_5126delinsTT (p.Ala1709Phe) c.5158_5159delinsTT (p.Ala1720Phe) c.1549_1550delinsTT n.3208_3209delinsTT c.3980_3981delinsTT c.5185_5186delinsTT (p.Ala1729Phe) n.923_924delinsTT c.5128_5129delinsTT (p.Ala1710Phe) c.5194_5195delinsTT (p.Ala1732Phe) c.5119_5120delinsTT (p.Ala1707Phe) n.2974_2975delinsTT c.5251_5252delinsTT (p.Ala1751Phe) c.5197_5198delinsTT (p.Ala1733Phe) c.5212_5213delinsTT (p.Ala1738Phe) c.5122_5123delinsTT (p.Ala1708Phe) c.5247_5248delinsTT n.3410_3411delinsTT c.5320_5321delinsTT (p.Ala1774Phe) n.4141_4142delinsTT n.2578_2579delinsTT n.2549_2550delinsTT n.2439_2440delinsTT c.4981_4982delinsTT (p.Ala1661Phe) c.*4493_*4494delinsTT (n.*4493_*4494delinsTT) c.5017_5018delinsTT (p.Ala1673Phe) n.3049_3050delinsTT c.1508_1509delinsTT n.2441_2442delinsTT c.5380_5381delinsTT (p.Ala1794Phe) c.5377_5378delinsTT (p.Ala1793Phe) c.5269_5270delinsTT (p.Ala1757Phe) c.5248_5249delinsTT (p.Ala1750Phe) c.4594_4595delinsTT (p.Ala1532Phe) c.5542_5543delinsTT (p.Ala1848Phe) c.5290_5291delinsTT (p.Ala1764Phe) c.4036_4037delinsTT (p.Ala1346Phe) | ClinVar dbSNP |
16 | g.2088513C>A | CA394315559 | TSC2 | c.*3676C>A (n.*3676C>A) c.5174C>A (p.Ala1725Asp) c.5324C>A (p.Ala1775Asp) c.*5840C>A (n.*5840C>A) c.*8076C>A (n.*8076C>A) c.5327C>A (p.Ala1776Asp) c.5258C>A (p.Ala1753Asp) c.5126C>A (p.Ala1709Asp) c.5159C>A (p.Ala1720Asp) c.1550C>A n.3209C>A c.3981C>A c.5186C>A (p.Ala1729Asp) n.924C>A c.5129C>A (p.Ala1710Asp) c.5195C>A (p.Ala1732Asp) c.5120C>A (p.Ala1707Asp) n.2975C>A c.5252C>A (p.Ala1751Asp) c.5198C>A (p.Ala1733Asp) c.5213C>A (p.Ala1738Asp) c.5123C>A (p.Ala1708Asp) c.5248C>A n.3411C>A c.5321C>A (p.Ala1774Asp) n.4142C>A n.2579C>A n.2550C>A n.2440C>A c.4982C>A (p.Ala1661Asp) c.*4494C>A (n.*4494C>A) c.5018C>A (p.Ala1673Asp) n.3050C>A c.1509C>A n.2442C>A c.5381C>A (p.Ala1794Asp) c.5378C>A (p.Ala1793Asp) c.5270C>A (p.Ala1757Asp) c.5249C>A (p.Ala1750Asp) c.4595C>A (p.Ala1532Asp) c.5543C>A (p.Ala1848Asp) c.5291C>A (p.Ala1764Asp) c.4037C>A (p.Ala1346Asp) | |
16 | g.2088513C= | CA2202033839 | TSC2 | c.*3676C= (n.*3676C=) c.5174C= (p.Ala1725=) c.5324C= (p.Ala1775=) c.*5840C= (n.*5840C=) c.*8076C= (n.*8076C=) c.5327C= (p.Ala1776=) c.5258C= (p.Ala1753=) c.5126C= (p.Ala1709=) c.5159C= (p.Ala1720=) c.1550C= n.3209C= c.3981C= c.5186C= (p.Ala1729=) n.924C= c.5129C= (p.Ala1710=) c.5195C= (p.Ala1732=) c.5120C= (p.Ala1707=) n.2975C= c.5252C= (p.Ala1751=) c.5198C= (p.Ala1733=) c.5213C= (p.Ala1738=) c.5123C= (p.Ala1708=) c.5248C= n.3411C= c.5321C= (p.Ala1774=) n.4142C= n.2579C= n.2550C= n.2440C= c.4982C= (p.Ala1661=) c.*4494C= (n.*4494C=) c.5018C= (p.Ala1673=) n.3050C= c.1509C= n.2442C= c.5381C= (p.Ala1794=) c.5378C= (p.Ala1793=) c.5270C= (p.Ala1757=) c.5249C= (p.Ala1750=) c.4595C= (p.Ala1532=) c.5543C= (p.Ala1848=) c.5291C= (p.Ala1764=) c.4037C= (p.Ala1346=) | |
16 | g.2088513C>G | CA394315567 | TSC2 | c.*3676C>G (n.*3676C>G) c.5174C>G (p.Ala1725Gly) c.5324C>G (p.Ala1775Gly) c.*5840C>G (n.*5840C>G) c.*8076C>G (n.*8076C>G) c.5327C>G (p.Ala1776Gly) c.5258C>G (p.Ala1753Gly) c.5126C>G (p.Ala1709Gly) c.5159C>G (p.Ala1720Gly) c.1550C>G n.3209C>G c.3981C>G c.5186C>G (p.Ala1729Gly) n.924C>G c.5129C>G (p.Ala1710Gly) c.5195C>G (p.Ala1732Gly) c.5120C>G (p.Ala1707Gly) n.2975C>G c.5252C>G (p.Ala1751Gly) c.5198C>G (p.Ala1733Gly) c.5213C>G (p.Ala1738Gly) c.5123C>G (p.Ala1708Gly) c.5248C>G n.3411C>G c.5321C>G (p.Ala1774Gly) n.4142C>G n.2579C>G n.2550C>G n.2440C>G c.4982C>G (p.Ala1661Gly) c.*4494C>G (n.*4494C>G) c.5018C>G (p.Ala1673Gly) n.3050C>G c.1509C>G n.2442C>G c.5381C>G (p.Ala1794Gly) c.5378C>G (p.Ala1793Gly) c.5270C>G (p.Ala1757Gly) c.5249C>G (p.Ala1750Gly) c.4595C>G (p.Ala1532Gly) c.5543C>G (p.Ala1848Gly) c.5291C>G (p.Ala1764Gly) c.4037C>G (p.Ala1346Gly) | dbSNP gnomAD v2 |
16 | g.2088513C>T | CA394315581 | TSC2 | c.*3676C>T (n.*3676C>T) c.5174C>T (p.Ala1725Val) c.5324C>T (p.Ala1775Val) c.*5840C>T (n.*5840C>T) c.*8076C>T (n.*8076C>T) c.5327C>T (p.Ala1776Val) c.5258C>T (p.Ala1753Val) c.5126C>T (p.Ala1709Val) c.5159C>T (p.Ala1720Val) c.1550C>T n.3209C>T c.3981C>T c.5186C>T (p.Ala1729Val) n.924C>T c.5129C>T (p.Ala1710Val) c.5195C>T (p.Ala1732Val) c.5120C>T (p.Ala1707Val) n.2975C>T c.5252C>T (p.Ala1751Val) c.5198C>T (p.Ala1733Val) c.5213C>T (p.Ala1738Val) c.5123C>T (p.Ala1708Val) c.5248C>T n.3411C>T c.5321C>T (p.Ala1774Val) n.4142C>T n.2579C>T n.2550C>T n.2440C>T c.4982C>T (p.Ala1661Val) c.*4494C>T (n.*4494C>T) c.5018C>T (p.Ala1673Val) n.3050C>T c.1509C>T n.2442C>T c.5381C>T (p.Ala1794Val) c.5378C>T (p.Ala1793Val) c.5270C>T (p.Ala1757Val) c.5249C>T (p.Ala1750Val) c.4595C>T (p.Ala1532Val) c.5543C>T (p.Ala1848Val) c.5291C>T (p.Ala1764Val) c.4037C>T (p.Ala1346Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088516dup | CA913188681 | TSC2 | c.*3679dup (n.*3679dup) c.5177dup (p.Ala1727CysfsTer12) c.5327dup (p.Ala1777CysfsTer12) c.*5843dup (n.*5843dup) c.*8079dup (n.*8079dup) c.5330dup (p.Ala1778CysfsTer12) c.5261dup (p.Ala1755CysfsTer12) c.5129dup (p.Ala1711CysfsTer12) c.5162dup (p.Ala1722CysfsTer12) c.1553dup n.3212dup c.3984dup c.5189dup (p.Ala1731CysfsTer12) n.927dup c.5132dup (p.Ala1712CysfsTer12) c.5198dup (p.Ala1734CysfsTer12) c.5123dup (p.Ala1709CysfsTer12) n.2978dup c.5255dup (p.Ala1753CysfsTer12) c.5201dup (p.Ala1735CysfsTer12) c.5216dup (p.Ala1740CysfsTer12) c.5126dup (p.Ala1710CysfsTer12) c.5251dup n.3414dup c.5324dup (p.Ala1776CysfsTer12) n.4145dup n.2582dup n.2553dup n.2443dup c.4985dup (p.Ala1663CysfsTer12) c.*4497dup (n.*4497dup) c.5021dup (p.Ala1675CysfsTer12) n.3053dup c.1512dup n.2445dup c.5384dup (p.Ala1796CysfsTer12) c.5381dup (p.Ala1795CysfsTer12) c.5273dup (p.Ala1759CysfsTer12) c.5252dup (p.Ala1752CysfsTer12) c.4598dup (p.Ala1534CysfsTer12) c.5546dup (p.Ala1850CysfsTer12) c.5294dup (p.Ala1766CysfsTer12) c.4040dup (p.Ala1348CysfsTer12) | |
16 | g.2088514C>A | CA493043709 | TSC2 | c.*3677C>A (n.*3677C>A) c.5175C>A (p.Ala1725=) c.5325C>A (p.Ala1775=) c.*5841C>A (n.*5841C>A) c.*8077C>A (n.*8077C>A) c.5328C>A (p.Ala1776=) c.5259C>A (p.Ala1753=) c.5127C>A (p.Ala1709=) c.5160C>A (p.Ala1720=) c.1551C>A n.3210C>A c.3982C>A c.5187C>A (p.Ala1729=) n.925C>A c.5130C>A (p.Ala1710=) c.5196C>A (p.Ala1732=) c.5121C>A (p.Ala1707=) n.2976C>A c.5253C>A (p.Ala1751=) c.5199C>A (p.Ala1733=) c.5214C>A (p.Ala1738=) c.5124C>A (p.Ala1708=) c.5249C>A n.3412C>A c.5322C>A (p.Ala1774=) n.4143C>A n.2580C>A n.2551C>A n.2441C>A c.4983C>A (p.Ala1661=) c.*4495C>A (n.*4495C>A) c.5019C>A (p.Ala1673=) n.3051C>A c.1510C>A n.2443C>A c.5382C>A (p.Ala1794=) c.5379C>A (p.Ala1793=) c.5271C>A (p.Ala1757=) c.5250C>A (p.Ala1750=) c.4596C>A (p.Ala1532=) c.5544C>A (p.Ala1848=) c.5292C>A (p.Ala1764=) c.4038C>A (p.Ala1346=) | ClinVar |
16 | g.2088514C= | CA2202033852 | TSC2 | c.*3677C= (n.*3677C=) c.5175C= (p.Ala1725=) c.5325C= (p.Ala1775=) c.*5841C= (n.*5841C=) c.*8077C= (n.*8077C=) c.5328C= (p.Ala1776=) c.5259C= (p.Ala1753=) c.5127C= (p.Ala1709=) c.5160C= (p.Ala1720=) c.1551C= n.3210C= c.3982C= c.5187C= (p.Ala1729=) n.925C= c.5130C= (p.Ala1710=) c.5196C= (p.Ala1732=) c.5121C= (p.Ala1707=) n.2976C= c.5253C= (p.Ala1751=) c.5199C= (p.Ala1733=) c.5214C= (p.Ala1738=) c.5124C= (p.Ala1708=) c.5249C= n.3412C= c.5322C= (p.Ala1774=) n.4143C= n.2580C= n.2551C= n.2441C= c.4983C= (p.Ala1661=) c.*4495C= (n.*4495C=) c.5019C= (p.Ala1673=) n.3051C= c.1510C= n.2443C= c.5382C= (p.Ala1794=) c.5379C= (p.Ala1793=) c.5271C= (p.Ala1757=) c.5250C= (p.Ala1750=) c.4596C= (p.Ala1532=) c.5544C= (p.Ala1848=) c.5292C= (p.Ala1764=) c.4038C= (p.Ala1346=) | |
16 | g.2088514C>G | CA493043710 | TSC2 | c.*3677C>G (n.*3677C>G) c.5175C>G (p.Ala1725=) c.5325C>G (p.Ala1775=) c.*5841C>G (n.*5841C>G) c.*8077C>G (n.*8077C>G) c.5328C>G (p.Ala1776=) c.5259C>G (p.Ala1753=) c.5127C>G (p.Ala1709=) c.5160C>G (p.Ala1720=) c.1551C>G n.3210C>G c.3982C>G c.5187C>G (p.Ala1729=) n.925C>G c.5130C>G (p.Ala1710=) c.5196C>G (p.Ala1732=) c.5121C>G (p.Ala1707=) n.2976C>G c.5253C>G (p.Ala1751=) c.5199C>G (p.Ala1733=) c.5214C>G (p.Ala1738=) c.5124C>G (p.Ala1708=) c.5249C>G n.3412C>G c.5322C>G (p.Ala1774=) n.4143C>G n.2580C>G n.2551C>G n.2441C>G c.4983C>G (p.Ala1661=) c.*4495C>G (n.*4495C>G) c.5019C>G (p.Ala1673=) n.3051C>G c.1510C>G n.2443C>G c.5382C>G (p.Ala1794=) c.5379C>G (p.Ala1793=) c.5271C>G (p.Ala1757=) c.5250C>G (p.Ala1750=) c.4596C>G (p.Ala1532=) c.5544C>G (p.Ala1848=) c.5292C>G (p.Ala1764=) c.4038C>G (p.Ala1346=) | ClinVar dbSNP |
16 | g.2088514C>T | CA055117 | TSC2 | c.*3677C>T (n.*3677C>T) c.5175C>T (p.Ala1725=) c.5325C>T (p.Ala1775=) c.*5841C>T (n.*5841C>T) c.*8077C>T (n.*8077C>T) c.5328C>T (p.Ala1776=) c.5259C>T (p.Ala1753=) c.5127C>T (p.Ala1709=) c.5160C>T (p.Ala1720=) c.1551C>T n.3210C>T c.3982C>T c.5187C>T (p.Ala1729=) n.925C>T c.5130C>T (p.Ala1710=) c.5196C>T (p.Ala1732=) c.5121C>T (p.Ala1707=) n.2976C>T c.5253C>T (p.Ala1751=) c.5199C>T (p.Ala1733=) c.5214C>T (p.Ala1738=) c.5124C>T (p.Ala1708=) c.5249C>T n.3412C>T c.5322C>T (p.Ala1774=) n.4143C>T n.2580C>T n.2551C>T n.2441C>T c.4983C>T (p.Ala1661=) c.*4495C>T (n.*4495C>T) c.5019C>T (p.Ala1673=) n.3051C>T c.1510C>T n.2443C>T c.5382C>T (p.Ala1794=) c.5379C>T (p.Ala1793=) c.5271C>T (p.Ala1757=) c.5250C>T (p.Ala1750=) c.4596C>T (p.Ala1532=) c.5544C>T (p.Ala1848=) c.5292C>T (p.Ala1764=) c.4038C>T (p.Ala1346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088515C>A | CA394315595 | TSC2 | c.*3678C>A (n.*3678C>A) c.5176C>A (p.Pro1726Thr) c.5326C>A (p.Pro1776Thr) c.*5842C>A (n.*5842C>A) c.*8078C>A (n.*8078C>A) c.5329C>A (p.Pro1777Thr) c.5260C>A (p.Pro1754Thr) c.5128C>A (p.Pro1710Thr) c.5161C>A (p.Pro1721Thr) c.1552C>A n.3211C>A c.3983C>A c.5188C>A (p.Pro1730Thr) n.926C>A c.5131C>A (p.Pro1711Thr) c.5197C>A (p.Pro1733Thr) c.5122C>A (p.Pro1708Thr) n.2977C>A c.5254C>A (p.Pro1752Thr) c.5200C>A (p.Pro1734Thr) c.5215C>A (p.Pro1739Thr) c.5125C>A (p.Pro1709Thr) c.5250C>A n.3413C>A c.5323C>A (p.Pro1775Thr) n.4144C>A n.2581C>A n.2552C>A n.2442C>A c.4984C>A (p.Pro1662Thr) c.*4496C>A (n.*4496C>A) c.5020C>A (p.Pro1674Thr) n.3052C>A c.1511C>A n.2444C>A c.5383C>A (p.Pro1795Thr) c.5380C>A (p.Pro1794Thr) c.5272C>A (p.Pro1758Thr) c.5251C>A (p.Pro1751Thr) c.4597C>A (p.Pro1533Thr) c.5545C>A (p.Pro1849Thr) c.5293C>A (p.Pro1765Thr) c.4039C>A (p.Pro1347Thr) | |
16 | g.2088515C= | CA2202033865 | TSC2 | c.*3678C= (n.*3678C=) c.5176C= (p.Pro1726=) c.5326C= (p.Pro1776=) c.*5842C= (n.*5842C=) c.*8078C= (n.*8078C=) c.5329C= (p.Pro1777=) c.5260C= (p.Pro1754=) c.5128C= (p.Pro1710=) c.5161C= (p.Pro1721=) c.1552C= n.3211C= c.3983C= c.5188C= (p.Pro1730=) n.926C= c.5131C= (p.Pro1711=) c.5197C= (p.Pro1733=) c.5122C= (p.Pro1708=) n.2977C= c.5254C= (p.Pro1752=) c.5200C= (p.Pro1734=) c.5215C= (p.Pro1739=) c.5125C= (p.Pro1709=) c.5250C= n.3413C= c.5323C= (p.Pro1775=) n.4144C= n.2581C= n.2552C= n.2442C= c.4984C= (p.Pro1662=) c.*4496C= (n.*4496C=) c.5020C= (p.Pro1674=) n.3052C= c.1511C= n.2444C= c.5383C= (p.Pro1795=) c.5380C= (p.Pro1794=) c.5272C= (p.Pro1758=) c.5251C= (p.Pro1751=) c.4597C= (p.Pro1533=) c.5545C= (p.Pro1849=) c.5293C= (p.Pro1765=) c.4039C= (p.Pro1347=) | |
16 | g.2088515C>G | CA10579908 | TSC2 | c.*3678C>G (n.*3678C>G) c.5176C>G (p.Pro1726Ala) c.5326C>G (p.Pro1776Ala) c.*5842C>G (n.*5842C>G) c.*8078C>G (n.*8078C>G) c.5329C>G (p.Pro1777Ala) c.5260C>G (p.Pro1754Ala) c.5128C>G (p.Pro1710Ala) c.5161C>G (p.Pro1721Ala) c.1552C>G n.3211C>G c.3983C>G c.5188C>G (p.Pro1730Ala) n.926C>G c.5131C>G (p.Pro1711Ala) c.5197C>G (p.Pro1733Ala) c.5122C>G (p.Pro1708Ala) n.2977C>G c.5254C>G (p.Pro1752Ala) c.5200C>G (p.Pro1734Ala) c.5215C>G (p.Pro1739Ala) c.5125C>G (p.Pro1709Ala) c.5250C>G n.3413C>G c.5323C>G (p.Pro1775Ala) n.4144C>G n.2581C>G n.2552C>G n.2442C>G c.4984C>G (p.Pro1662Ala) c.*4496C>G (n.*4496C>G) c.5020C>G (p.Pro1674Ala) n.3052C>G c.1511C>G n.2444C>G c.5383C>G (p.Pro1795Ala) c.5380C>G (p.Pro1794Ala) c.5272C>G (p.Pro1758Ala) c.5251C>G (p.Pro1751Ala) c.4597C>G (p.Pro1533Ala) c.5545C>G (p.Pro1849Ala) c.5293C>G (p.Pro1765Ala) c.4039C>G (p.Pro1347Ala) | ClinVar dbSNP |
16 | g.2088515C>T | CA055123 | TSC2 | c.*3678C>T (n.*3678C>T) c.5176C>T (p.Pro1726Ser) c.5326C>T (p.Pro1776Ser) c.*5842C>T (n.*5842C>T) c.*8078C>T (n.*8078C>T) c.5329C>T (p.Pro1777Ser) c.5260C>T (p.Pro1754Ser) c.5128C>T (p.Pro1710Ser) c.5161C>T (p.Pro1721Ser) c.1552C>T n.3211C>T c.3983C>T c.5188C>T (p.Pro1730Ser) n.926C>T c.5131C>T (p.Pro1711Ser) c.5197C>T (p.Pro1733Ser) c.5122C>T (p.Pro1708Ser) n.2977C>T c.5254C>T (p.Pro1752Ser) c.5200C>T (p.Pro1734Ser) c.5215C>T (p.Pro1739Ser) c.5125C>T (p.Pro1709Ser) c.5250C>T n.3413C>T c.5323C>T (p.Pro1775Ser) n.4144C>T n.2581C>T n.2552C>T n.2442C>T c.4984C>T (p.Pro1662Ser) c.*4496C>T (n.*4496C>T) c.5020C>T (p.Pro1674Ser) n.3052C>T c.1511C>T n.2444C>T c.5383C>T (p.Pro1795Ser) c.5380C>T (p.Pro1794Ser) c.5272C>T (p.Pro1758Ser) c.5251C>T (p.Pro1751Ser) c.4597C>T (p.Pro1533Ser) c.5545C>T (p.Pro1849Ser) c.5293C>T (p.Pro1765Ser) c.4039C>T (p.Pro1347Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088516_2088525del | CA2573151990 | TSC2 | c.*3679_*3688del (n.*3679_*3688del) c.5177_5186del (p.Pro1726LeufsTer?) c.5327_5336del (p.Pro1776LeufsTer?) c.*5843_*5852del (n.*5843_*5852del) c.*8079_*8088del (n.*8079_*8088del) c.5330_5339del (p.Pro1777LeufsTer?) c.5261_5270del (p.Pro1754LeufsTer?) c.5129_5138del (p.Pro1710LeufsTer?) c.5162_5171del (p.Pro1721LeufsTer?) c.1553_1562del n.3212_3221del c.3984_3993del c.5189_5198del (p.Pro1730LeufsTer?) n.927_936del c.5132_5141del (p.Pro1711LeufsTer?) c.5198_5207del (p.Pro1733LeufsTer?) c.5123_5132del (p.Pro1708LeufsTer?) n.2978_2987del c.5255_5264del (p.Pro1752LeufsTer?) c.5201_5210del (p.Pro1734LeufsTer?) c.5216_5225del (p.Pro1739LeufsTer?) c.5126_5135del (p.Pro1709LeufsTer?) c.5251_5260del n.3414_3423del c.5324_5333del (p.Pro1775LeufsTer?) n.4145_4154del n.2582_2591del n.2553_2562del n.2443_2452del c.4985_4994del (p.Pro1662LeufsTer?) c.*4497_*4506del (n.*4497_*4506del) c.5021_5030del (p.Pro1674LeufsTer?) n.3053_3062del c.1512_1521del n.2445_2454del c.5384_5393del (p.Pro1795LeufsTer?) c.5381_5390del (p.Pro1794LeufsTer?) c.5273_5282del (p.Pro1758LeufsTer?) c.5252_5261del (p.Pro1751LeufsTer?) c.4598_4607del (p.Pro1533LeufsTer?) c.5546_5555del (p.Pro1849LeufsTer?) c.5294_5303del (p.Pro1765LeufsTer?) c.4040_4049del (p.Pro1347LeufsTer?) | ClinVar dbSNP |
16 | g.2088516C>A | CA394315601 | TSC2 | c.*3679C>A (n.*3679C>A) c.5177C>A (p.Pro1726His) c.5327C>A (p.Pro1776His) c.*5843C>A (n.*5843C>A) c.*8079C>A (n.*8079C>A) c.5330C>A (p.Pro1777His) c.5261C>A (p.Pro1754His) c.5129C>A (p.Pro1710His) c.5162C>A (p.Pro1721His) c.1553C>A n.3212C>A c.3984C>A c.5189C>A (p.Pro1730His) n.927C>A c.5132C>A (p.Pro1711His) c.5198C>A (p.Pro1733His) c.5123C>A (p.Pro1708His) n.2978C>A c.5255C>A (p.Pro1752His) c.5201C>A (p.Pro1734His) c.5216C>A (p.Pro1739His) c.5126C>A (p.Pro1709His) c.5251C>A n.3414C>A c.5324C>A (p.Pro1775His) n.4145C>A n.2582C>A n.2553C>A n.2443C>A c.4985C>A (p.Pro1662His) c.*4497C>A (n.*4497C>A) c.5021C>A (p.Pro1674His) n.3053C>A c.1512C>A n.2445C>A c.5384C>A (p.Pro1795His) c.5381C>A (p.Pro1794His) c.5273C>A (p.Pro1758His) c.5252C>A (p.Pro1751His) c.4598C>A (p.Pro1533His) c.5546C>A (p.Pro1849His) c.5294C>A (p.Pro1765His) c.4040C>A (p.Pro1347His) | ClinVar dbSNP |
16 | g.2088516C= | CA2202033872 | TSC2 | c.*3679C= (n.*3679C=) c.5177C= (p.Pro1726=) c.5327C= (p.Pro1776=) c.*5843C= (n.*5843C=) c.*8079C= (n.*8079C=) c.5330C= (p.Pro1777=) c.5261C= (p.Pro1754=) c.5129C= (p.Pro1710=) c.5162C= (p.Pro1721=) c.1553C= n.3212C= c.3984C= c.5189C= (p.Pro1730=) n.927C= c.5132C= (p.Pro1711=) c.5198C= (p.Pro1733=) c.5123C= (p.Pro1708=) n.2978C= c.5255C= (p.Pro1752=) c.5201C= (p.Pro1734=) c.5216C= (p.Pro1739=) c.5126C= (p.Pro1709=) c.5251C= n.3414C= c.5324C= (p.Pro1775=) n.4145C= n.2582C= n.2553C= n.2443C= c.4985C= (p.Pro1662=) c.*4497C= (n.*4497C=) c.5021C= (p.Pro1674=) n.3053C= c.1512C= n.2445C= c.5384C= (p.Pro1795=) c.5381C= (p.Pro1794=) c.5273C= (p.Pro1758=) c.5252C= (p.Pro1751=) c.4598C= (p.Pro1533=) c.5546C= (p.Pro1849=) c.5294C= (p.Pro1765=) c.4040C= (p.Pro1347=) | |
16 | g.2088516C>G | CA394315604 | TSC2 | c.*3679C>G (n.*3679C>G) c.5177C>G (p.Pro1726Arg) c.5327C>G (p.Pro1776Arg) c.*5843C>G (n.*5843C>G) c.*8079C>G (n.*8079C>G) c.5330C>G (p.Pro1777Arg) c.5261C>G (p.Pro1754Arg) c.5129C>G (p.Pro1710Arg) c.5162C>G (p.Pro1721Arg) c.1553C>G n.3212C>G c.3984C>G c.5189C>G (p.Pro1730Arg) n.927C>G c.5132C>G (p.Pro1711Arg) c.5198C>G (p.Pro1733Arg) c.5123C>G (p.Pro1708Arg) n.2978C>G c.5255C>G (p.Pro1752Arg) c.5201C>G (p.Pro1734Arg) c.5216C>G (p.Pro1739Arg) c.5126C>G (p.Pro1709Arg) c.5251C>G n.3414C>G c.5324C>G (p.Pro1775Arg) n.4145C>G n.2582C>G n.2553C>G n.2443C>G c.4985C>G (p.Pro1662Arg) c.*4497C>G (n.*4497C>G) c.5021C>G (p.Pro1674Arg) n.3053C>G c.1512C>G n.2445C>G c.5384C>G (p.Pro1795Arg) c.5381C>G (p.Pro1794Arg) c.5273C>G (p.Pro1758Arg) c.5252C>G (p.Pro1751Arg) c.4598C>G (p.Pro1533Arg) c.5546C>G (p.Pro1849Arg) c.5294C>G (p.Pro1765Arg) c.4040C>G (p.Pro1347Arg) | ClinVar dbSNP |
16 | g.2088516C>T | CA394315607 | TSC2 | c.*3679C>T (n.*3679C>T) c.5177C>T (p.Pro1726Leu) c.5327C>T (p.Pro1776Leu) c.*5843C>T (n.*5843C>T) c.*8079C>T (n.*8079C>T) c.5330C>T (p.Pro1777Leu) c.5261C>T (p.Pro1754Leu) c.5129C>T (p.Pro1710Leu) c.5162C>T (p.Pro1721Leu) c.1553C>T n.3212C>T c.3984C>T c.5189C>T (p.Pro1730Leu) n.927C>T c.5132C>T (p.Pro1711Leu) c.5198C>T (p.Pro1733Leu) c.5123C>T (p.Pro1708Leu) n.2978C>T c.5255C>T (p.Pro1752Leu) c.5201C>T (p.Pro1734Leu) c.5216C>T (p.Pro1739Leu) c.5126C>T (p.Pro1709Leu) c.5251C>T n.3414C>T c.5324C>T (p.Pro1775Leu) n.4145C>T n.2582C>T n.2553C>T n.2443C>T c.4985C>T (p.Pro1662Leu) c.*4497C>T (n.*4497C>T) c.5021C>T (p.Pro1674Leu) n.3053C>T c.1512C>T n.2445C>T c.5384C>T (p.Pro1795Leu) c.5381C>T (p.Pro1794Leu) c.5273C>T (p.Pro1758Leu) c.5252C>T (p.Pro1751Leu) c.4598C>T (p.Pro1533Leu) c.5546C>T (p.Pro1849Leu) c.5294C>T (p.Pro1765Leu) c.4040C>T (p.Pro1347Leu) | ClinVar |
16 | g.2088517T>A | CA493043711 | TSC2 | c.*3680T>A (n.*3680T>A) c.5178T>A (p.Pro1726=) c.5328T>A (p.Pro1776=) c.*5844T>A (n.*5844T>A) c.*8080T>A (n.*8080T>A) c.5331T>A (p.Pro1777=) c.5262T>A (p.Pro1754=) c.5130T>A (p.Pro1710=) c.5163T>A (p.Pro1721=) c.1554T>A n.3213T>A c.3985T>A c.5190T>A (p.Pro1730=) n.928T>A c.5133T>A (p.Pro1711=) c.5199T>A (p.Pro1733=) c.5124T>A (p.Pro1708=) n.2979T>A c.5256T>A (p.Pro1752=) c.5202T>A (p.Pro1734=) c.5217T>A (p.Pro1739=) c.5127T>A (p.Pro1709=) c.5252T>A n.3415T>A c.5325T>A (p.Pro1775=) n.4146T>A n.2583T>A n.2554T>A n.2444T>A c.4986T>A (p.Pro1662=) c.*4498T>A (n.*4498T>A) c.5022T>A (p.Pro1674=) n.3054T>A c.1513T>A n.2446T>A c.5385T>A (p.Pro1795=) c.5382T>A (p.Pro1794=) c.5274T>A (p.Pro1758=) c.5253T>A (p.Pro1751=) c.4599T>A (p.Pro1533=) c.5547T>A (p.Pro1849=) c.5295T>A (p.Pro1765=) c.4041T>A (p.Pro1347=) | |
16 | g.2088517T>C | CA022397 | TSC2 | c.*3680T>C (n.*3680T>C) c.5178T>C (p.Pro1726=) c.5328T>C (p.Pro1776=) c.*5844T>C (n.*5844T>C) c.*8080T>C (n.*8080T>C) c.5331T>C (p.Pro1777=) c.5262T>C (p.Pro1754=) c.5130T>C (p.Pro1710=) c.5163T>C (p.Pro1721=) c.1554T>C n.3213T>C c.3985T>C c.5190T>C (p.Pro1730=) n.928T>C c.5133T>C (p.Pro1711=) c.5199T>C (p.Pro1733=) c.5124T>C (p.Pro1708=) n.2979T>C c.5256T>C (p.Pro1752=) c.5202T>C (p.Pro1734=) c.5217T>C (p.Pro1739=) c.5127T>C (p.Pro1709=) c.5252T>C n.3415T>C c.5325T>C (p.Pro1775=) n.4146T>C n.2583T>C n.2554T>C n.2444T>C c.4986T>C (p.Pro1662=) c.*4498T>C (n.*4498T>C) c.5022T>C (p.Pro1674=) n.3054T>C c.1513T>C n.2446T>C c.5385T>C (p.Pro1795=) c.5382T>C (p.Pro1794=) c.5274T>C (p.Pro1758=) c.5253T>C (p.Pro1751=) c.4599T>C (p.Pro1533=) c.5547T>C (p.Pro1849=) c.5295T>C (p.Pro1765=) c.4041T>C (p.Pro1347=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088517T>G | CA493043712 | TSC2 | c.*3680T>G (n.*3680T>G) c.5178T>G (p.Pro1726=) c.5328T>G (p.Pro1776=) c.*5844T>G (n.*5844T>G) c.*8080T>G (n.*8080T>G) c.5331T>G (p.Pro1777=) c.5262T>G (p.Pro1754=) c.5130T>G (p.Pro1710=) c.5163T>G (p.Pro1721=) c.1554T>G n.3213T>G c.3985T>G c.5190T>G (p.Pro1730=) n.928T>G c.5133T>G (p.Pro1711=) c.5199T>G (p.Pro1733=) c.5124T>G (p.Pro1708=) n.2979T>G c.5256T>G (p.Pro1752=) c.5202T>G (p.Pro1734=) c.5217T>G (p.Pro1739=) c.5127T>G (p.Pro1709=) c.5252T>G n.3415T>G c.5325T>G (p.Pro1775=) n.4146T>G n.2583T>G n.2554T>G n.2444T>G c.4986T>G (p.Pro1662=) c.*4498T>G (n.*4498T>G) c.5022T>G (p.Pro1674=) n.3054T>G c.1513T>G n.2446T>G c.5385T>G (p.Pro1795=) c.5382T>G (p.Pro1794=) c.5274T>G (p.Pro1758=) c.5253T>G (p.Pro1751=) c.4599T>G (p.Pro1533=) c.5547T>G (p.Pro1849=) c.5295T>G (p.Pro1765=) c.4041T>G (p.Pro1347=) | gnomAD v4 |
16 | g.2088517T= | CA2202033880 | TSC2 | c.*3680T= (n.*3680T=) c.5178T= (p.Pro1726=) c.5328T= (p.Pro1776=) c.*5844T= (n.*5844T=) c.*8080T= (n.*8080T=) c.5331T= (p.Pro1777=) c.5262T= (p.Pro1754=) c.5130T= (p.Pro1710=) c.5163T= (p.Pro1721=) c.1554T= n.3213T= c.3985T= c.5190T= (p.Pro1730=) n.928T= c.5133T= (p.Pro1711=) c.5199T= (p.Pro1733=) c.5124T= (p.Pro1708=) n.2979T= c.5256T= (p.Pro1752=) c.5202T= (p.Pro1734=) c.5217T= (p.Pro1739=) c.5127T= (p.Pro1709=) c.5252T= n.3415T= c.5325T= (p.Pro1775=) n.4146T= n.2583T= n.2554T= n.2444T= c.4986T= (p.Pro1662=) c.*4498T= (n.*4498T=) c.5022T= (p.Pro1674=) n.3054T= c.1513T= n.2446T= c.5385T= (p.Pro1795=) c.5382T= (p.Pro1794=) c.5274T= (p.Pro1758=) c.5253T= (p.Pro1751=) c.4599T= (p.Pro1533=) c.5547T= (p.Pro1849=) c.5295T= (p.Pro1765=) c.4041T= (p.Pro1347=) | |
16 | g.2088518G>A | CA16622078 | TSC2 | c.*3681G>A (n.*3681G>A) c.5179G>A (p.Ala1727Thr) c.5329G>A (p.Ala1777Thr) c.*5845G>A (n.*5845G>A) c.*8081G>A (n.*8081G>A) c.5332G>A (p.Ala1778Thr) c.5263G>A (p.Ala1755Thr) c.5131G>A (p.Ala1711Thr) c.5164G>A (p.Ala1722Thr) c.1555G>A n.3214G>A c.3986G>A c.5191G>A (p.Ala1731Thr) n.929G>A c.5134G>A (p.Ala1712Thr) c.5200G>A (p.Ala1734Thr) c.5125G>A (p.Ala1709Thr) n.2980G>A c.5257G>A (p.Ala1753Thr) c.5203G>A (p.Ala1735Thr) c.5218G>A (p.Ala1740Thr) c.5128G>A (p.Ala1710Thr) c.5253G>A n.3416G>A c.5326G>A (p.Ala1776Thr) n.4147G>A n.2584G>A n.2555G>A n.2445G>A c.4987G>A (p.Ala1663Thr) c.*4499G>A (n.*4499G>A) c.5023G>A (p.Ala1675Thr) n.3055G>A c.1514G>A n.2447G>A c.5386G>A (p.Ala1796Thr) c.5383G>A (p.Ala1795Thr) c.5275G>A (p.Ala1759Thr) c.5254G>A (p.Ala1752Thr) c.4600G>A (p.Ala1534Thr) c.5548G>A (p.Ala1850Thr) c.5296G>A (p.Ala1766Thr) c.4042G>A (p.Ala1348Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088518G>C | CA394315612 | TSC2 | c.*3681G>C (n.*3681G>C) c.5179G>C (p.Ala1727Pro) c.5329G>C (p.Ala1777Pro) c.*5845G>C (n.*5845G>C) c.*8081G>C (n.*8081G>C) c.5332G>C (p.Ala1778Pro) c.5263G>C (p.Ala1755Pro) c.5131G>C (p.Ala1711Pro) c.5164G>C (p.Ala1722Pro) c.1555G>C n.3214G>C c.3986G>C c.5191G>C (p.Ala1731Pro) n.929G>C c.5134G>C (p.Ala1712Pro) c.5200G>C (p.Ala1734Pro) c.5125G>C (p.Ala1709Pro) n.2980G>C c.5257G>C (p.Ala1753Pro) c.5203G>C (p.Ala1735Pro) c.5218G>C (p.Ala1740Pro) c.5128G>C (p.Ala1710Pro) c.5253G>C n.3416G>C c.5326G>C (p.Ala1776Pro) n.4147G>C n.2584G>C n.2555G>C n.2445G>C c.4987G>C (p.Ala1663Pro) c.*4499G>C (n.*4499G>C) c.5023G>C (p.Ala1675Pro) n.3055G>C c.1514G>C n.2447G>C c.5386G>C (p.Ala1796Pro) c.5383G>C (p.Ala1795Pro) c.5275G>C (p.Ala1759Pro) c.5254G>C (p.Ala1752Pro) c.4600G>C (p.Ala1534Pro) c.5548G>C (p.Ala1850Pro) c.5296G>C (p.Ala1766Pro) c.4042G>C (p.Ala1348Pro) | gnomAD v4 |
16 | g.2088518G= | CA2202033887 | TSC2 | c.*3681G= (n.*3681G=) c.5179G= (p.Ala1727=) c.5329G= (p.Ala1777=) c.*5845G= (n.*5845G=) c.*8081G= (n.*8081G=) c.5332G= (p.Ala1778=) c.5263G= (p.Ala1755=) c.5131G= (p.Ala1711=) c.5164G= (p.Ala1722=) c.1555G= n.3214G= c.3986G= c.5191G= (p.Ala1731=) n.929G= c.5134G= (p.Ala1712=) c.5200G= (p.Ala1734=) c.5125G= (p.Ala1709=) n.2980G= c.5257G= (p.Ala1753=) c.5203G= (p.Ala1735=) c.5218G= (p.Ala1740=) c.5128G= (p.Ala1710=) c.5253G= n.3416G= c.5326G= (p.Ala1776=) n.4147G= n.2584G= n.2555G= n.2445G= c.4987G= (p.Ala1663=) c.*4499G= (n.*4499G=) c.5023G= (p.Ala1675=) n.3055G= c.1514G= n.2447G= c.5386G= (p.Ala1796=) c.5383G= (p.Ala1795=) c.5275G= (p.Ala1759=) c.5254G= (p.Ala1752=) c.4600G= (p.Ala1534=) c.5548G= (p.Ala1850=) c.5296G= (p.Ala1766=) c.4042G= (p.Ala1348=) | |
16 | g.2088518G>T | CA394315614 | TSC2 | c.*3681G>T (n.*3681G>T) c.5179G>T (p.Ala1727Ser) c.5329G>T (p.Ala1777Ser) c.*5845G>T (n.*5845G>T) c.*8081G>T (n.*8081G>T) c.5332G>T (p.Ala1778Ser) c.5263G>T (p.Ala1755Ser) c.5131G>T (p.Ala1711Ser) c.5164G>T (p.Ala1722Ser) c.1555G>T n.3214G>T c.3986G>T c.5191G>T (p.Ala1731Ser) n.929G>T c.5134G>T (p.Ala1712Ser) c.5200G>T (p.Ala1734Ser) c.5125G>T (p.Ala1709Ser) n.2980G>T c.5257G>T (p.Ala1753Ser) c.5203G>T (p.Ala1735Ser) c.5218G>T (p.Ala1740Ser) c.5128G>T (p.Ala1710Ser) c.5253G>T n.3416G>T c.5326G>T (p.Ala1776Ser) n.4147G>T n.2584G>T n.2555G>T n.2445G>T c.4987G>T (p.Ala1663Ser) c.*4499G>T (n.*4499G>T) c.5023G>T (p.Ala1675Ser) n.3055G>T c.1514G>T n.2447G>T c.5386G>T (p.Ala1796Ser) c.5383G>T (p.Ala1795Ser) c.5275G>T (p.Ala1759Ser) c.5254G>T (p.Ala1752Ser) c.4600G>T (p.Ala1534Ser) c.5548G>T (p.Ala1850Ser) c.5296G>T (p.Ala1766Ser) c.4042G>T (p.Ala1348Ser) | |
16 | g.2088519del | CA620705132 | TSC2 | c.*3682del (n.*3682del) c.5180del (p.Ala1727AspfsTer?) c.5330del (p.Ala1777AspfsTer?) c.*5846del (n.*5846del) c.*8082del (n.*8082del) c.5333del (p.Ala1778AspfsTer?) c.5264del (p.Ala1755AspfsTer?) c.5132del (p.Ala1711AspfsTer?) c.5165del (p.Ala1722AspfsTer?) c.1556del n.3215del c.3987del c.5192del (p.Ala1731AspfsTer?) n.930del c.5135del (p.Ala1712AspfsTer?) c.5201del (p.Ala1734AspfsTer?) c.5126del (p.Ala1709AspfsTer?) n.2981del c.5258del (p.Ala1753AspfsTer?) c.5204del (p.Ala1735AspfsTer?) c.5219del (p.Ala1740AspfsTer?) c.5129del (p.Ala1710AspfsTer?) c.5254del n.3417del c.5327del (p.Ala1776AspfsTer?) n.4148del n.2585del n.2556del n.2446del c.4988del (p.Ala1663AspfsTer?) c.*4500del (n.*4500del) c.5024del (p.Ala1675AspfsTer?) n.3056del c.1515del n.2448del c.5387del (p.Ala1796AspfsTer?) c.5384del (p.Ala1795AspfsTer?) c.5276del (p.Ala1759AspfsTer?) c.5255del (p.Ala1752AspfsTer?) c.4601del (p.Ala1534AspfsTer?) c.5549del (p.Ala1850AspfsTer?) c.5297del (p.Ala1766AspfsTer?) c.4043del (p.Ala1348AspfsTer?) | gnomAD v2 gnomAD v4 |
16 | g.2088519C>A | CA055137 | TSC2 | c.*3682C>A (n.*3682C>A) c.5180C>A (p.Ala1727Glu) c.5330C>A (p.Ala1777Glu) c.*5846C>A (n.*5846C>A) c.*8082C>A (n.*8082C>A) c.5333C>A (p.Ala1778Glu) c.5264C>A (p.Ala1755Glu) c.5132C>A (p.Ala1711Glu) c.5165C>A (p.Ala1722Glu) c.1556C>A n.3215C>A c.3987C>A c.5192C>A (p.Ala1731Glu) n.930C>A c.5135C>A (p.Ala1712Glu) c.5201C>A (p.Ala1734Glu) c.5126C>A (p.Ala1709Glu) n.2981C>A c.5258C>A (p.Ala1753Glu) c.5204C>A (p.Ala1735Glu) c.5219C>A (p.Ala1740Glu) c.5129C>A (p.Ala1710Glu) c.5254C>A n.3417C>A c.5327C>A (p.Ala1776Glu) n.4148C>A n.2585C>A n.2556C>A n.2446C>A c.4988C>A (p.Ala1663Glu) c.*4500C>A (n.*4500C>A) c.5024C>A (p.Ala1675Glu) n.3056C>A c.1515C>A n.2448C>A c.5387C>A (p.Ala1796Glu) c.5384C>A (p.Ala1795Glu) c.5276C>A (p.Ala1759Glu) c.5255C>A (p.Ala1752Glu) c.4601C>A (p.Ala1534Glu) c.5549C>A (p.Ala1850Glu) c.5297C>A (p.Ala1766Glu) c.4043C>A (p.Ala1348Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088519C= | CA2202033911 | TSC2 | c.*3682C= (n.*3682C=) c.5180C= (p.Ala1727=) c.5330C= (p.Ala1777=) c.*5846C= (n.*5846C=) c.*8082C= (n.*8082C=) c.5333C= (p.Ala1778=) c.5264C= (p.Ala1755=) c.5132C= (p.Ala1711=) c.5165C= (p.Ala1722=) c.1556C= n.3215C= c.3987C= c.5192C= (p.Ala1731=) n.930C= c.5135C= (p.Ala1712=) c.5201C= (p.Ala1734=) c.5126C= (p.Ala1709=) n.2981C= c.5258C= (p.Ala1753=) c.5204C= (p.Ala1735=) c.5219C= (p.Ala1740=) c.5129C= (p.Ala1710=) c.5254C= n.3417C= c.5327C= (p.Ala1776=) n.4148C= n.2585C= n.2556C= n.2446C= c.4988C= (p.Ala1663=) c.*4500C= (n.*4500C=) c.5024C= (p.Ala1675=) n.3056C= c.1515C= n.2448C= c.5387C= (p.Ala1796=) c.5384C= (p.Ala1795=) c.5276C= (p.Ala1759=) c.5255C= (p.Ala1752=) c.4601C= (p.Ala1534=) c.5549C= (p.Ala1850=) c.5297C= (p.Ala1766=) c.4043C= (p.Ala1348=) | |
16 | g.2088519C>G | CA394315619 | TSC2 | c.*3682C>G (n.*3682C>G) c.5180C>G (p.Ala1727Gly) c.5330C>G (p.Ala1777Gly) c.*5846C>G (n.*5846C>G) c.*8082C>G (n.*8082C>G) c.5333C>G (p.Ala1778Gly) c.5264C>G (p.Ala1755Gly) c.5132C>G (p.Ala1711Gly) c.5165C>G (p.Ala1722Gly) c.1556C>G n.3215C>G c.3987C>G c.5192C>G (p.Ala1731Gly) n.930C>G c.5135C>G (p.Ala1712Gly) c.5201C>G (p.Ala1734Gly) c.5126C>G (p.Ala1709Gly) n.2981C>G c.5258C>G (p.Ala1753Gly) c.5204C>G (p.Ala1735Gly) c.5219C>G (p.Ala1740Gly) c.5129C>G (p.Ala1710Gly) c.5254C>G n.3417C>G c.5327C>G (p.Ala1776Gly) n.4148C>G n.2585C>G n.2556C>G n.2446C>G c.4988C>G (p.Ala1663Gly) c.*4500C>G (n.*4500C>G) c.5024C>G (p.Ala1675Gly) n.3056C>G c.1515C>G n.2448C>G c.5387C>G (p.Ala1796Gly) c.5384C>G (p.Ala1795Gly) c.5276C>G (p.Ala1759Gly) c.5255C>G (p.Ala1752Gly) c.4601C>G (p.Ala1534Gly) c.5549C>G (p.Ala1850Gly) c.5297C>G (p.Ala1766Gly) c.4043C>G (p.Ala1348Gly) | COSMIC COSMIC |
16 | g.2088519C>T | CA394315621 | TSC2 | c.*3682C>T (n.*3682C>T) c.5180C>T (p.Ala1727Val) c.5330C>T (p.Ala1777Val) c.*5846C>T (n.*5846C>T) c.*8082C>T (n.*8082C>T) c.5333C>T (p.Ala1778Val) c.5264C>T (p.Ala1755Val) c.5132C>T (p.Ala1711Val) c.5165C>T (p.Ala1722Val) c.1556C>T n.3215C>T c.3987C>T c.5192C>T (p.Ala1731Val) n.930C>T c.5135C>T (p.Ala1712Val) c.5201C>T (p.Ala1734Val) c.5126C>T (p.Ala1709Val) n.2981C>T c.5258C>T (p.Ala1753Val) c.5204C>T (p.Ala1735Val) c.5219C>T (p.Ala1740Val) c.5129C>T (p.Ala1710Val) c.5254C>T n.3417C>T c.5327C>T (p.Ala1776Val) n.4148C>T n.2585C>T n.2556C>T n.2446C>T c.4988C>T (p.Ala1663Val) c.*4500C>T (n.*4500C>T) c.5024C>T (p.Ala1675Val) n.3056C>T c.1515C>T n.2448C>T c.5387C>T (p.Ala1796Val) c.5384C>T (p.Ala1795Val) c.5276C>T (p.Ala1759Val) c.5255C>T (p.Ala1752Val) c.4601C>T (p.Ala1534Val) c.5549C>T (p.Ala1850Val) c.5297C>T (p.Ala1766Val) c.4043C>T (p.Ala1348Val) | ClinVar dbSNP |
16 | g.2088521_2088522del | CA2580612724 | TSC2 | c.*3684_*3685del (n.*3684_*3685del) c.5182_5183del (p.Gln1728AspfsTer10) c.5332_5333del (p.Gln1778AspfsTer10) c.*5848_*5849del (n.*5848_*5849del) c.*8084_*8085del (n.*8084_*8085del) c.5335_5336del (p.Gln1779AspfsTer10) c.5266_5267del (p.Gln1756AspfsTer10) c.5134_5135del (p.Gln1712AspfsTer10) c.5167_5168del (p.Gln1723AspfsTer10) c.1558_1559del n.3217_3218del c.3989_3990del c.5194_5195del (p.Gln1732AspfsTer10) n.932_933del c.5137_5138del (p.Gln1713AspfsTer10) c.5203_5204del (p.Gln1735AspfsTer10) c.5128_5129del (p.Gln1710AspfsTer10) n.2983_2984del c.5260_5261del (p.Gln1754AspfsTer10) c.5206_5207del (p.Gln1736AspfsTer10) c.5221_5222del (p.Gln1741AspfsTer10) c.5131_5132del (p.Gln1711AspfsTer10) c.5256_5257del n.3419_3420del c.5329_5330del (p.Gln1777AspfsTer10) n.4150_4151del n.2587_2588del n.2558_2559del n.2448_2449del c.4990_4991del (p.Gln1664AspfsTer10) c.*4502_*4503del (n.*4502_*4503del) c.5026_5027del (p.Gln1676AspfsTer10) n.3058_3059del c.1517_1518del n.2450_2451del c.5389_5390del (p.Gln1797AspfsTer10) c.5386_5387del (p.Gln1796AspfsTer10) c.5278_5279del (p.Gln1760AspfsTer10) c.5257_5258del (p.Gln1753AspfsTer10) c.4603_4604del (p.Gln1535AspfsTer10) c.5551_5552del (p.Gln1851AspfsTer10) c.5299_5300del (p.Gln1767AspfsTer10) c.4045_4046del (p.Gln1349AspfsTer10) | ClinVar dbSNP gnomAD v4 |
16 | g.2088520A= | CA2202033920 | TSC2 | c.*3683A= (n.*3683A=) c.5181A= (p.Ala1727=) c.5331A= (p.Ala1777=) c.*5847A= (n.*5847A=) c.*8083A= (n.*8083A=) c.5334A= (p.Ala1778=) c.5265A= (p.Ala1755=) c.5133A= (p.Ala1711=) c.5166A= (p.Ala1722=) c.1557A= n.3216A= c.3988A= c.5193A= (p.Ala1731=) n.931A= c.5136A= (p.Ala1712=) c.5202A= (p.Ala1734=) c.5127A= (p.Ala1709=) n.2982A= c.5259A= (p.Ala1753=) c.5205A= (p.Ala1735=) c.5220A= (p.Ala1740=) c.5130A= (p.Ala1710=) c.5255A= n.3418A= c.5328A= (p.Ala1776=) n.4149A= n.2586A= n.2557A= n.2447A= c.4989A= (p.Ala1663=) c.*4501A= (n.*4501A=) c.5025A= (p.Ala1675=) n.3057A= c.1516A= n.2449A= c.5388A= (p.Ala1796=) c.5385A= (p.Ala1795=) c.5277A= (p.Ala1759=) c.5256A= (p.Ala1752=) c.4602A= (p.Ala1534=) c.5550A= (p.Ala1850=) c.5298A= (p.Ala1766=) c.4044A= (p.Ala1348=) | |
16 | g.2088520A>C | CA493043713 | TSC2 | c.*3683A>C (n.*3683A>C) c.5181A>C (p.Ala1727=) c.5331A>C (p.Ala1777=) c.*5847A>C (n.*5847A>C) c.*8083A>C (n.*8083A>C) c.5334A>C (p.Ala1778=) c.5265A>C (p.Ala1755=) c.5133A>C (p.Ala1711=) c.5166A>C (p.Ala1722=) c.1557A>C n.3216A>C c.3988A>C c.5193A>C (p.Ala1731=) n.931A>C c.5136A>C (p.Ala1712=) c.5202A>C (p.Ala1734=) c.5127A>C (p.Ala1709=) n.2982A>C c.5259A>C (p.Ala1753=) c.5205A>C (p.Ala1735=) c.5220A>C (p.Ala1740=) c.5130A>C (p.Ala1710=) c.5255A>C n.3418A>C c.5328A>C (p.Ala1776=) n.4149A>C n.2586A>C n.2557A>C n.2447A>C c.4989A>C (p.Ala1663=) c.*4501A>C (n.*4501A>C) c.5025A>C (p.Ala1675=) n.3057A>C c.1516A>C n.2449A>C c.5388A>C (p.Ala1796=) c.5385A>C (p.Ala1795=) c.5277A>C (p.Ala1759=) c.5256A>C (p.Ala1752=) c.4602A>C (p.Ala1534=) c.5550A>C (p.Ala1850=) c.5298A>C (p.Ala1766=) c.4044A>C (p.Ala1348=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088520A>G | CA055142 | TSC2 | c.*3683A>G (n.*3683A>G) c.5181A>G (p.Ala1727=) c.5331A>G (p.Ala1777=) c.*5847A>G (n.*5847A>G) c.*8083A>G (n.*8083A>G) c.5334A>G (p.Ala1778=) c.5265A>G (p.Ala1755=) c.5133A>G (p.Ala1711=) c.5166A>G (p.Ala1722=) c.1557A>G n.3216A>G c.3988A>G c.5193A>G (p.Ala1731=) n.931A>G c.5136A>G (p.Ala1712=) c.5202A>G (p.Ala1734=) c.5127A>G (p.Ala1709=) n.2982A>G c.5259A>G (p.Ala1753=) c.5205A>G (p.Ala1735=) c.5220A>G (p.Ala1740=) c.5130A>G (p.Ala1710=) c.5255A>G n.3418A>G c.5328A>G (p.Ala1776=) n.4149A>G n.2586A>G n.2557A>G n.2447A>G c.4989A>G (p.Ala1663=) c.*4501A>G (n.*4501A>G) c.5025A>G (p.Ala1675=) n.3057A>G c.1516A>G n.2449A>G c.5388A>G (p.Ala1796=) c.5385A>G (p.Ala1795=) c.5277A>G (p.Ala1759=) c.5256A>G (p.Ala1752=) c.4602A>G (p.Ala1534=) c.5550A>G (p.Ala1850=) c.5298A>G (p.Ala1766=) c.4044A>G (p.Ala1348=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088520A>T | CA493043714 | TSC2 | c.*3683A>T (n.*3683A>T) c.5181A>T (p.Ala1727=) c.5331A>T (p.Ala1777=) c.*5847A>T (n.*5847A>T) c.*8083A>T (n.*8083A>T) c.5334A>T (p.Ala1778=) c.5265A>T (p.Ala1755=) c.5133A>T (p.Ala1711=) c.5166A>T (p.Ala1722=) c.1557A>T n.3216A>T c.3988A>T c.5193A>T (p.Ala1731=) n.931A>T c.5136A>T (p.Ala1712=) c.5202A>T (p.Ala1734=) c.5127A>T (p.Ala1709=) n.2982A>T c.5259A>T (p.Ala1753=) c.5205A>T (p.Ala1735=) c.5220A>T (p.Ala1740=) c.5130A>T (p.Ala1710=) c.5255A>T n.3418A>T c.5328A>T (p.Ala1776=) n.4149A>T n.2586A>T n.2557A>T n.2447A>T c.4989A>T (p.Ala1663=) c.*4501A>T (n.*4501A>T) c.5025A>T (p.Ala1675=) n.3057A>T c.1516A>T n.2449A>T c.5388A>T (p.Ala1796=) c.5385A>T (p.Ala1795=) c.5277A>T (p.Ala1759=) c.5256A>T (p.Ala1752=) c.4602A>T (p.Ala1534=) c.5550A>T (p.Ala1850=) c.5298A>T (p.Ala1766=) c.4044A>T (p.Ala1348=) | |
16 | g.2088520_2088522del | CA2631119509 | TSC2 | c.*3683_*3685del (n.*3683_*3685del) c.5181_5183del (p.Gln1728del) c.5331_5333del (p.Gln1778del) c.*5847_*5849del (n.*5847_*5849del) c.*8083_*8085del (n.*8083_*8085del) c.5334_5336del (p.Gln1779del) c.5265_5267del (p.Gln1756del) c.5133_5135del (p.Gln1712del) c.5166_5168del (p.Gln1723del) c.1557_1559del n.3216_3218del c.3988_3990del c.5193_5195del (p.Gln1732del) n.931_933del c.5136_5138del (p.Gln1713del) c.5202_5204del (p.Gln1735del) c.5127_5129del (p.Gln1710del) n.2982_2984del c.5259_5261del (p.Gln1754del) c.5205_5207del (p.Gln1736del) c.5220_5222del (p.Gln1741del) c.5130_5132del (p.Gln1711del) c.5255_5257del n.3418_3420del c.5328_5330del (p.Gln1777del) n.4149_4151del n.2586_2588del n.2557_2559del n.2447_2449del c.4989_4991del (p.Gln1664del) c.*4501_*4503del (n.*4501_*4503del) c.5025_5027del (p.Gln1676del) n.3057_3059del c.1516_1518del n.2449_2451del c.5388_5390del (p.Gln1797del) c.5385_5387del (p.Gln1796del) c.5277_5279del (p.Gln1760del) c.5256_5258del (p.Gln1753del) c.4602_4604del (p.Gln1535del) c.5550_5552del (p.Gln1851del) c.5298_5300del (p.Gln1767del) c.4044_4046del (p.Gln1349del) | gnomAD v4 |
16 | g.2088521C>A | CA394315628 | TSC2 | c.*3684C>A (n.*3684C>A) c.5182C>A (p.Gln1728Lys) c.5332C>A (p.Gln1778Lys) c.*5848C>A (n.*5848C>A) c.*8084C>A (n.*8084C>A) c.5335C>A (p.Gln1779Lys) c.5266C>A (p.Gln1756Lys) c.5134C>A (p.Gln1712Lys) c.5167C>A (p.Gln1723Lys) c.1558C>A n.3217C>A c.3989C>A c.5194C>A (p.Gln1732Lys) n.932C>A c.5137C>A (p.Gln1713Lys) c.5203C>A (p.Gln1735Lys) c.5128C>A (p.Gln1710Lys) n.2983C>A c.5260C>A (p.Gln1754Lys) c.5206C>A (p.Gln1736Lys) c.5221C>A (p.Gln1741Lys) c.5131C>A (p.Gln1711Lys) c.5256C>A n.3419C>A c.5329C>A (p.Gln1777Lys) n.4150C>A n.2587C>A n.2558C>A n.2448C>A c.4990C>A (p.Gln1664Lys) c.*4502C>A (n.*4502C>A) c.5026C>A (p.Gln1676Lys) n.3058C>A c.1517C>A n.2450C>A c.5389C>A (p.Gln1797Lys) c.5386C>A (p.Gln1796Lys) c.5278C>A (p.Gln1760Lys) c.5257C>A (p.Gln1753Lys) c.4603C>A (p.Gln1535Lys) c.5551C>A (p.Gln1851Lys) c.5299C>A (p.Gln1767Lys) c.4045C>A (p.Gln1349Lys) | ClinVar dbSNP |
16 | g.2088521C= | CA2202033941 | TSC2 | c.*3684C= (n.*3684C=) c.5182C= (p.Gln1728=) c.5332C= (p.Gln1778=) c.*5848C= (n.*5848C=) c.*8084C= (n.*8084C=) c.5335C= (p.Gln1779=) c.5266C= (p.Gln1756=) c.5134C= (p.Gln1712=) c.5167C= (p.Gln1723=) c.1558C= n.3217C= c.3989C= c.5194C= (p.Gln1732=) n.932C= c.5137C= (p.Gln1713=) c.5203C= (p.Gln1735=) c.5128C= (p.Gln1710=) n.2983C= c.5260C= (p.Gln1754=) c.5206C= (p.Gln1736=) c.5221C= (p.Gln1741=) c.5131C= (p.Gln1711=) c.5256C= n.3419C= c.5329C= (p.Gln1777=) n.4150C= n.2587C= n.2558C= n.2448C= c.4990C= (p.Gln1664=) c.*4502C= (n.*4502C=) c.5026C= (p.Gln1676=) n.3058C= c.1517C= n.2450C= c.5389C= (p.Gln1797=) c.5386C= (p.Gln1796=) c.5278C= (p.Gln1760=) c.5257C= (p.Gln1753=) c.4603C= (p.Gln1535=) c.5551C= (p.Gln1851=) c.5299C= (p.Gln1767=) c.4045C= (p.Gln1349=) | |
16 | g.2088521C>G | CA394315631 | TSC2 | c.*3684C>G (n.*3684C>G) c.5182C>G (p.Gln1728Glu) c.5332C>G (p.Gln1778Glu) c.*5848C>G (n.*5848C>G) c.*8084C>G (n.*8084C>G) c.5335C>G (p.Gln1779Glu) c.5266C>G (p.Gln1756Glu) c.5134C>G (p.Gln1712Glu) c.5167C>G (p.Gln1723Glu) c.1558C>G n.3217C>G c.3989C>G c.5194C>G (p.Gln1732Glu) n.932C>G c.5137C>G (p.Gln1713Glu) c.5203C>G (p.Gln1735Glu) c.5128C>G (p.Gln1710Glu) n.2983C>G c.5260C>G (p.Gln1754Glu) c.5206C>G (p.Gln1736Glu) c.5221C>G (p.Gln1741Glu) c.5131C>G (p.Gln1711Glu) c.5256C>G n.3419C>G c.5329C>G (p.Gln1777Glu) n.4150C>G n.2587C>G n.2558C>G n.2448C>G c.4990C>G (p.Gln1664Glu) c.*4502C>G (n.*4502C>G) c.5026C>G (p.Gln1676Glu) n.3058C>G c.1517C>G n.2450C>G c.5389C>G (p.Gln1797Glu) c.5386C>G (p.Gln1796Glu) c.5278C>G (p.Gln1760Glu) c.5257C>G (p.Gln1753Glu) c.4603C>G (p.Gln1535Glu) c.5551C>G (p.Gln1851Glu) c.5299C>G (p.Gln1767Glu) c.4045C>G (p.Gln1349Glu) | ClinVar dbSNP |
16 | g.2088521C>T | CA394315634 | TSC2 | c.*3684C>T (n.*3684C>T) c.5182C>T (p.Gln1728Ter) c.5332C>T (p.Gln1778Ter) c.*5848C>T (n.*5848C>T) c.*8084C>T (n.*8084C>T) c.5335C>T (p.Gln1779Ter) c.5266C>T (p.Gln1756Ter) c.5134C>T (p.Gln1712Ter) c.5167C>T (p.Gln1723Ter) c.1558C>T n.3217C>T c.3989C>T c.5194C>T (p.Gln1732Ter) n.932C>T c.5137C>T (p.Gln1713Ter) c.5203C>T (p.Gln1735Ter) c.5128C>T (p.Gln1710Ter) n.2983C>T c.5260C>T (p.Gln1754Ter) c.5206C>T (p.Gln1736Ter) c.5221C>T (p.Gln1741Ter) c.5131C>T (p.Gln1711Ter) c.5256C>T n.3419C>T c.5329C>T (p.Gln1777Ter) n.4150C>T n.2587C>T n.2558C>T n.2448C>T c.4990C>T (p.Gln1664Ter) c.*4502C>T (n.*4502C>T) c.5026C>T (p.Gln1676Ter) n.3058C>T c.1517C>T n.2450C>T c.5389C>T (p.Gln1797Ter) c.5386C>T (p.Gln1796Ter) c.5278C>T (p.Gln1760Ter) c.5257C>T (p.Gln1753Ter) c.4603C>T (p.Gln1535Ter) c.5551C>T (p.Gln1851Ter) c.5299C>T (p.Gln1767Ter) c.4045C>T (p.Gln1349Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088522A= | CA2202033952 | TSC2 | c.*3685A= (n.*3685A=) c.5183A= (p.Gln1728=) c.5333A= (p.Gln1778=) c.*5849A= (n.*5849A=) c.*8085A= (n.*8085A=) c.5336A= (p.Gln1779=) c.5267A= (p.Gln1756=) c.5135A= (p.Gln1712=) c.5168A= (p.Gln1723=) c.1559A= n.3218A= c.3990A= c.5195A= (p.Gln1732=) n.933A= c.5138A= (p.Gln1713=) c.5204A= (p.Gln1735=) c.5129A= (p.Gln1710=) n.2984A= c.5261A= (p.Gln1754=) c.5207A= (p.Gln1736=) c.5222A= (p.Gln1741=) c.5132A= (p.Gln1711=) c.5257A= n.3420A= c.5330A= (p.Gln1777=) n.4151A= n.2588A= n.2559A= n.2449A= c.4991A= (p.Gln1664=) c.*4503A= (n.*4503A=) c.5027A= (p.Gln1676=) n.3059A= c.1518A= n.2451A= c.5390A= (p.Gln1797=) c.5387A= (p.Gln1796=) c.5279A= (p.Gln1760=) c.5258A= (p.Gln1753=) c.4604A= (p.Gln1535=) c.5552A= (p.Gln1851=) c.5300A= (p.Gln1767=) c.4046A= (p.Gln1349=) | |
16 | g.2088522A>C | CA394315640 | TSC2 | c.*3685A>C (n.*3685A>C) c.5183A>C (p.Gln1728Pro) c.5333A>C (p.Gln1778Pro) c.*5849A>C (n.*5849A>C) c.*8085A>C (n.*8085A>C) c.5336A>C (p.Gln1779Pro) c.5267A>C (p.Gln1756Pro) c.5135A>C (p.Gln1712Pro) c.5168A>C (p.Gln1723Pro) c.1559A>C n.3218A>C c.3990A>C c.5195A>C (p.Gln1732Pro) n.933A>C c.5138A>C (p.Gln1713Pro) c.5204A>C (p.Gln1735Pro) c.5129A>C (p.Gln1710Pro) n.2984A>C c.5261A>C (p.Gln1754Pro) c.5207A>C (p.Gln1736Pro) c.5222A>C (p.Gln1741Pro) c.5132A>C (p.Gln1711Pro) c.5257A>C n.3420A>C c.5330A>C (p.Gln1777Pro) n.4151A>C n.2588A>C n.2559A>C n.2449A>C c.4991A>C (p.Gln1664Pro) c.*4503A>C (n.*4503A>C) c.5027A>C (p.Gln1676Pro) n.3059A>C c.1518A>C n.2451A>C c.5390A>C (p.Gln1797Pro) c.5387A>C (p.Gln1796Pro) c.5279A>C (p.Gln1760Pro) c.5258A>C (p.Gln1753Pro) c.4604A>C (p.Gln1535Pro) c.5552A>C (p.Gln1851Pro) c.5300A>C (p.Gln1767Pro) c.4046A>C (p.Gln1349Pro) | |
16 | g.2088522A>G | CA055149 | TSC2 | c.*3685A>G (n.*3685A>G) c.5183A>G (p.Gln1728Arg) c.5333A>G (p.Gln1778Arg) c.*5849A>G (n.*5849A>G) c.*8085A>G (n.*8085A>G) c.5336A>G (p.Gln1779Arg) c.5267A>G (p.Gln1756Arg) c.5135A>G (p.Gln1712Arg) c.5168A>G (p.Gln1723Arg) c.1559A>G n.3218A>G c.3990A>G c.5195A>G (p.Gln1732Arg) n.933A>G c.5138A>G (p.Gln1713Arg) c.5204A>G (p.Gln1735Arg) c.5129A>G (p.Gln1710Arg) n.2984A>G c.5261A>G (p.Gln1754Arg) c.5207A>G (p.Gln1736Arg) c.5222A>G (p.Gln1741Arg) c.5132A>G (p.Gln1711Arg) c.5257A>G n.3420A>G c.5330A>G (p.Gln1777Arg) n.4151A>G n.2588A>G n.2559A>G n.2449A>G c.4991A>G (p.Gln1664Arg) c.*4503A>G (n.*4503A>G) c.5027A>G (p.Gln1676Arg) n.3059A>G c.1518A>G n.2451A>G c.5390A>G (p.Gln1797Arg) c.5387A>G (p.Gln1796Arg) c.5279A>G (p.Gln1760Arg) c.5258A>G (p.Gln1753Arg) c.4604A>G (p.Gln1535Arg) c.5552A>G (p.Gln1851Arg) c.5300A>G (p.Gln1767Arg) c.4046A>G (p.Gln1349Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088522A>T | CA394315639 | TSC2 | c.*3685A>T (n.*3685A>T) c.5183A>T (p.Gln1728Leu) c.5333A>T (p.Gln1778Leu) c.*5849A>T (n.*5849A>T) c.*8085A>T (n.*8085A>T) c.5336A>T (p.Gln1779Leu) c.5267A>T (p.Gln1756Leu) c.5135A>T (p.Gln1712Leu) c.5168A>T (p.Gln1723Leu) c.1559A>T n.3218A>T c.3990A>T c.5195A>T (p.Gln1732Leu) n.933A>T c.5138A>T (p.Gln1713Leu) c.5204A>T (p.Gln1735Leu) c.5129A>T (p.Gln1710Leu) n.2984A>T c.5261A>T (p.Gln1754Leu) c.5207A>T (p.Gln1736Leu) c.5222A>T (p.Gln1741Leu) c.5132A>T (p.Gln1711Leu) c.5257A>T n.3420A>T c.5330A>T (p.Gln1777Leu) n.4151A>T n.2588A>T n.2559A>T n.2449A>T c.4991A>T (p.Gln1664Leu) c.*4503A>T (n.*4503A>T) c.5027A>T (p.Gln1676Leu) n.3059A>T c.1518A>T n.2451A>T c.5390A>T (p.Gln1797Leu) c.5387A>T (p.Gln1796Leu) c.5279A>T (p.Gln1760Leu) c.5258A>T (p.Gln1753Leu) c.4604A>T (p.Gln1535Leu) c.5552A>T (p.Gln1851Leu) c.5300A>T (p.Gln1767Leu) c.4046A>T (p.Gln1349Leu) | |
16 | g.2088522_2088523insCGGC | CA620705133 | TSC2 | c.*3685_*3686insCGGC (n.*3685_*3686insCGGC) c.5183_5184insCGGC (p.Gln1728HisfsTer12) c.5333_5334insCGGC (p.Gln1778HisfsTer12) c.*5849_*5850insCGGC (n.*5849_*5850insCGGC) c.*8085_*8086insCGGC (n.*8085_*8086insCGGC) c.5336_5337insCGGC (p.Gln1779HisfsTer12) c.5267_5268insCGGC (p.Gln1756HisfsTer12) c.5135_5136insCGGC (p.Gln1712HisfsTer12) c.5168_5169insCGGC (p.Gln1723HisfsTer12) c.1559_1560insCGGC n.3218_3219insCGGC c.3990_3991insCGGC c.5195_5196insCGGC (p.Gln1732HisfsTer12) n.933_934insCGGC c.5138_5139insCGGC (p.Gln1713HisfsTer12) c.5204_5205insCGGC (p.Gln1735HisfsTer12) c.5129_5130insCGGC (p.Gln1710HisfsTer12) n.2984_2985insCGGC c.5261_5262insCGGC (p.Gln1754HisfsTer12) c.5207_5208insCGGC (p.Gln1736HisfsTer12) c.5222_5223insCGGC (p.Gln1741HisfsTer12) c.5132_5133insCGGC (p.Gln1711HisfsTer12) c.5257_5258insCGGC n.3420_3421insCGGC c.5330_5331insCGGC (p.Gln1777HisfsTer12) n.4151_4152insCGGC n.2588_2589insCGGC n.2559_2560insCGGC n.2449_2450insCGGC c.4991_4992insCGGC (p.Gln1664HisfsTer12) c.*4503_*4504insCGGC (n.*4503_*4504insCGGC) c.5027_5028insCGGC (p.Gln1676HisfsTer12) n.3059_3060insCGGC c.1518_1519insCGGC n.2451_2452insCGGC c.5390_5391insCGGC (p.Gln1797HisfsTer12) c.5387_5388insCGGC (p.Gln1796HisfsTer12) c.5279_5280insCGGC (p.Gln1760HisfsTer12) c.5258_5259insCGGC (p.Gln1753HisfsTer12) c.4604_4605insCGGC (p.Gln1535HisfsTer12) c.5552_5553insCGGC (p.Gln1851HisfsTer12) c.5300_5301insCGGC (p.Gln1767HisfsTer12) c.4046_4047insCGGC (p.Gln1349HisfsTer12) | gnomAD v2 gnomAD v4 |
16 | g.2088523G>A | CA276760043 | TSC2 | c.*3686G>A (n.*3686G>A) c.5184G>A (p.Gln1728=) c.5334G>A (p.Gln1778=) c.*5850G>A (n.*5850G>A) c.*8086G>A (n.*8086G>A) c.5337G>A (p.Gln1779=) c.5268G>A (p.Gln1756=) c.5136G>A (p.Gln1712=) c.5169G>A (p.Gln1723=) c.1560G>A n.3219G>A c.3991G>A c.5196G>A (p.Gln1732=) n.934G>A c.5139G>A (p.Gln1713=) c.5205G>A (p.Gln1735=) c.5130G>A (p.Gln1710=) n.2985G>A c.5262G>A (p.Gln1754=) c.5208G>A (p.Gln1736=) c.5223G>A (p.Gln1741=) c.5133G>A (p.Gln1711=) c.5258G>A n.3421G>A c.5331G>A (p.Gln1777=) n.4152G>A n.2589G>A n.2560G>A n.2450G>A c.4992G>A (p.Gln1664=) c.*4504G>A (n.*4504G>A) c.5028G>A (p.Gln1676=) n.3060G>A c.1519G>A n.2452G>A c.5391G>A (p.Gln1797=) c.5388G>A (p.Gln1796=) c.5280G>A (p.Gln1760=) c.5259G>A (p.Gln1753=) c.4605G>A (p.Gln1535=) c.5553G>A (p.Gln1851=) c.5301G>A (p.Gln1767=) c.4047G>A (p.Gln1349=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088523G>C | CA055156 | TSC2 | c.*3686G>C (n.*3686G>C) c.5184G>C (p.Gln1728His) c.5334G>C (p.Gln1778His) c.*5850G>C (n.*5850G>C) c.*8086G>C (n.*8086G>C) c.5337G>C (p.Gln1779His) c.5268G>C (p.Gln1756His) c.5136G>C (p.Gln1712His) c.5169G>C (p.Gln1723His) c.1560G>C n.3219G>C c.3991G>C c.5196G>C (p.Gln1732His) n.934G>C c.5139G>C (p.Gln1713His) c.5205G>C (p.Gln1735His) c.5130G>C (p.Gln1710His) n.2985G>C c.5262G>C (p.Gln1754His) c.5208G>C (p.Gln1736His) c.5223G>C (p.Gln1741His) c.5133G>C (p.Gln1711His) c.5258G>C n.3421G>C c.5331G>C (p.Gln1777His) n.4152G>C n.2589G>C n.2560G>C n.2450G>C c.4992G>C (p.Gln1664His) c.*4504G>C (n.*4504G>C) c.5028G>C (p.Gln1676His) n.3060G>C c.1519G>C n.2452G>C c.5391G>C (p.Gln1797His) c.5388G>C (p.Gln1796His) c.5280G>C (p.Gln1760His) c.5259G>C (p.Gln1753His) c.4605G>C (p.Gln1535His) c.5553G>C (p.Gln1851His) c.5301G>C (p.Gln1767His) c.4047G>C (p.Gln1349His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088523G= | CA2202033968 | TSC2 | c.*3686G= (n.*3686G=) c.5184G= (p.Gln1728=) c.5334G= (p.Gln1778=) c.*5850G= (n.*5850G=) c.*8086G= (n.*8086G=) c.5337G= (p.Gln1779=) c.5268G= (p.Gln1756=) c.5136G= (p.Gln1712=) c.5169G= (p.Gln1723=) c.1560G= n.3219G= c.3991G= c.5196G= (p.Gln1732=) n.934G= c.5139G= (p.Gln1713=) c.5205G= (p.Gln1735=) c.5130G= (p.Gln1710=) n.2985G= c.5262G= (p.Gln1754=) c.5208G= (p.Gln1736=) c.5223G= (p.Gln1741=) c.5133G= (p.Gln1711=) c.5258G= n.3421G= c.5331G= (p.Gln1777=) n.4152G= n.2589G= n.2560G= n.2450G= c.4992G= (p.Gln1664=) c.*4504G= (n.*4504G=) c.5028G= (p.Gln1676=) n.3060G= c.1519G= n.2452G= c.5391G= (p.Gln1797=) c.5388G= (p.Gln1796=) c.5280G= (p.Gln1760=) c.5259G= (p.Gln1753=) c.4605G= (p.Gln1535=) c.5553G= (p.Gln1851=) c.5301G= (p.Gln1767=) c.4047G= (p.Gln1349=) | |
16 | g.2088523G>T | CA394315644 | TSC2 | c.*3686G>T (n.*3686G>T) c.5184G>T (p.Gln1728His) c.5334G>T (p.Gln1778His) c.*5850G>T (n.*5850G>T) c.*8086G>T (n.*8086G>T) c.5337G>T (p.Gln1779His) c.5268G>T (p.Gln1756His) c.5136G>T (p.Gln1712His) c.5169G>T (p.Gln1723His) c.1560G>T n.3219G>T c.3991G>T c.5196G>T (p.Gln1732His) n.934G>T c.5139G>T (p.Gln1713His) c.5205G>T (p.Gln1735His) c.5130G>T (p.Gln1710His) n.2985G>T c.5262G>T (p.Gln1754His) c.5208G>T (p.Gln1736His) c.5223G>T (p.Gln1741His) c.5133G>T (p.Gln1711His) c.5258G>T n.3421G>T c.5331G>T (p.Gln1777His) n.4152G>T n.2589G>T n.2560G>T n.2450G>T c.4992G>T (p.Gln1664His) c.*4504G>T (n.*4504G>T) c.5028G>T (p.Gln1676His) n.3060G>T c.1519G>T n.2452G>T c.5391G>T (p.Gln1797His) c.5388G>T (p.Gln1796His) c.5280G>T (p.Gln1760His) c.5259G>T (p.Gln1753His) c.4605G>T (p.Gln1535His) c.5553G>T (p.Gln1851His) c.5301G>T (p.Gln1767His) c.4047G>T (p.Gln1349His) | |
16 | g.2088524A= | CA2202033981 | TSC2 | c.*3687A= (n.*3687A=) c.5185A= (p.Thr1729=) c.5335A= (p.Thr1779=) c.*5851A= (n.*5851A=) c.*8087A= (n.*8087A=) c.5338A= (p.Thr1780=) c.5269A= (p.Thr1757=) c.5137A= (p.Thr1713=) c.5170A= (p.Thr1724=) c.1561A= n.3220A= c.3992A= c.5197A= (p.Thr1733=) n.935A= c.5140A= (p.Thr1714=) c.5206A= (p.Thr1736=) c.5131A= (p.Thr1711=) n.2986A= c.5263A= (p.Thr1755=) c.5209A= (p.Thr1737=) c.5224A= (p.Thr1742=) c.5134A= (p.Thr1712=) c.5259A= n.3422A= c.5332A= (p.Thr1778=) n.4153A= n.2590A= n.2561A= n.2451A= c.4993A= (p.Thr1665=) c.*4505A= (n.*4505A=) c.5029A= (p.Thr1677=) n.3061A= c.1520A= n.2453A= c.5392A= (p.Thr1798=) c.5389A= (p.Thr1797=) c.5281A= (p.Thr1761=) c.5260A= (p.Thr1754=) c.4606A= (p.Thr1536=) c.5554A= (p.Thr1852=) c.5302A= (p.Thr1768=) c.4048A= (p.Thr1350=) | |
16 | g.2088524A>C | CA276760048 | TSC2 | c.*3687A>C (n.*3687A>C) c.5185A>C (p.Thr1729Pro) c.5335A>C (p.Thr1779Pro) c.*5851A>C (n.*5851A>C) c.*8087A>C (n.*8087A>C) c.5338A>C (p.Thr1780Pro) c.5269A>C (p.Thr1757Pro) c.5137A>C (p.Thr1713Pro) c.5170A>C (p.Thr1724Pro) c.1561A>C n.3220A>C c.3992A>C c.5197A>C (p.Thr1733Pro) n.935A>C c.5140A>C (p.Thr1714Pro) c.5206A>C (p.Thr1736Pro) c.5131A>C (p.Thr1711Pro) n.2986A>C c.5263A>C (p.Thr1755Pro) c.5209A>C (p.Thr1737Pro) c.5224A>C (p.Thr1742Pro) c.5134A>C (p.Thr1712Pro) c.5259A>C n.3422A>C c.5332A>C (p.Thr1778Pro) n.4153A>C n.2590A>C n.2561A>C n.2451A>C c.4993A>C (p.Thr1665Pro) c.*4505A>C (n.*4505A>C) c.5029A>C (p.Thr1677Pro) n.3061A>C c.1520A>C n.2453A>C c.5392A>C (p.Thr1798Pro) c.5389A>C (p.Thr1797Pro) c.5281A>C (p.Thr1761Pro) c.5260A>C (p.Thr1754Pro) c.4606A>C (p.Thr1536Pro) c.5554A>C (p.Thr1852Pro) c.5302A>C (p.Thr1768Pro) c.4048A>C (p.Thr1350Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088524A>G | CA394315648 | TSC2 | c.*3687A>G (n.*3687A>G) c.5185A>G (p.Thr1729Ala) c.5335A>G (p.Thr1779Ala) c.*5851A>G (n.*5851A>G) c.*8087A>G (n.*8087A>G) c.5338A>G (p.Thr1780Ala) c.5269A>G (p.Thr1757Ala) c.5137A>G (p.Thr1713Ala) c.5170A>G (p.Thr1724Ala) c.1561A>G n.3220A>G c.3992A>G c.5197A>G (p.Thr1733Ala) n.935A>G c.5140A>G (p.Thr1714Ala) c.5206A>G (p.Thr1736Ala) c.5131A>G (p.Thr1711Ala) n.2986A>G c.5263A>G (p.Thr1755Ala) c.5209A>G (p.Thr1737Ala) c.5224A>G (p.Thr1742Ala) c.5134A>G (p.Thr1712Ala) c.5259A>G n.3422A>G c.5332A>G (p.Thr1778Ala) n.4153A>G n.2590A>G n.2561A>G n.2451A>G c.4993A>G (p.Thr1665Ala) c.*4505A>G (n.*4505A>G) c.5029A>G (p.Thr1677Ala) n.3061A>G c.1520A>G n.2453A>G c.5392A>G (p.Thr1798Ala) c.5389A>G (p.Thr1797Ala) c.5281A>G (p.Thr1761Ala) c.5260A>G (p.Thr1754Ala) c.4606A>G (p.Thr1536Ala) c.5554A>G (p.Thr1852Ala) c.5302A>G (p.Thr1768Ala) c.4048A>G (p.Thr1350Ala) | ClinVar gnomAD v4 |
16 | g.2088524A>T | CA394315653 | TSC2 | c.*3687A>T (n.*3687A>T) c.5185A>T (p.Thr1729Ser) c.5335A>T (p.Thr1779Ser) c.*5851A>T (n.*5851A>T) c.*8087A>T (n.*8087A>T) c.5338A>T (p.Thr1780Ser) c.5269A>T (p.Thr1757Ser) c.5137A>T (p.Thr1713Ser) c.5170A>T (p.Thr1724Ser) c.1561A>T n.3220A>T c.3992A>T c.5197A>T (p.Thr1733Ser) n.935A>T c.5140A>T (p.Thr1714Ser) c.5206A>T (p.Thr1736Ser) c.5131A>T (p.Thr1711Ser) n.2986A>T c.5263A>T (p.Thr1755Ser) c.5209A>T (p.Thr1737Ser) c.5224A>T (p.Thr1742Ser) c.5134A>T (p.Thr1712Ser) c.5259A>T n.3422A>T c.5332A>T (p.Thr1778Ser) n.4153A>T n.2590A>T n.2561A>T n.2451A>T c.4993A>T (p.Thr1665Ser) c.*4505A>T (n.*4505A>T) c.5029A>T (p.Thr1677Ser) n.3061A>T c.1520A>T n.2453A>T c.5392A>T (p.Thr1798Ser) c.5389A>T (p.Thr1797Ser) c.5281A>T (p.Thr1761Ser) c.5260A>T (p.Thr1754Ser) c.4606A>T (p.Thr1536Ser) c.5554A>T (p.Thr1852Ser) c.5302A>T (p.Thr1768Ser) c.4048A>T (p.Thr1350Ser) | |
16 | g.2088524_2088526delinsACT | CA2202033986 | TSC2 | c.*3687_*3689delinsACT (n.*3687_*3689delinsACT) c.5185_5187delinsACT (p.Thr1729=) c.5335_5337delinsACT (p.Thr1779=) c.*5851_*5853delinsACT (n.*5851_*5853delinsACT) c.*8087_*8089delinsACT (n.*8087_*8089delinsACT) c.5338_5340delinsACT (p.Thr1780=) c.5269_5271delinsACT (p.Thr1757=) c.5137_5139delinsACT (p.Thr1713=) c.5170_5172delinsACT (p.Thr1724=) c.1561_1563delinsACT n.3220_3222delinsACT c.3992_3994delinsACT c.5197_5199delinsACT (p.Thr1733=) n.935_937delinsACT c.5140_5142delinsACT (p.Thr1714=) c.5206_5208delinsACT (p.Thr1736=) c.5131_5133delinsACT (p.Thr1711=) n.2986_2988delinsACT c.5263_5265delinsACT (p.Thr1755=) c.5209_5211delinsACT (p.Thr1737=) c.5224_5226delinsACT (p.Thr1742=) c.5134_5136delinsACT (p.Thr1712=) c.5259_5261delinsACT n.3422_3424delinsACT c.5332_5334delinsACT (p.Thr1778=) n.4153_4155delinsACT n.2590_2592delinsACT n.2561_2563delinsACT n.2451_2453delinsACT c.4993_4995delinsACT (p.Thr1665=) c.*4505_*4507delinsACT (n.*4505_*4507delinsACT) c.5029_5031delinsACT (p.Thr1677=) n.3061_3063delinsACT c.1520_1522delinsACT n.2453_2455delinsACT c.5392_5394delinsACT (p.Thr1798=) c.5389_5391delinsACT (p.Thr1797=) c.5281_5283delinsACT (p.Thr1761=) c.5260_5262delinsACT (p.Thr1754=) c.4606_4608delinsACT (p.Thr1536=) c.5554_5556delinsACT (p.Thr1852=) c.5302_5304delinsACT (p.Thr1768=) c.4048_4050delinsACT (p.Thr1350=) | |
16 | g.2088526_2088540dup | CA2580091203 | TSC2 | c.*3689_*3703dup (n.*3689_*3703dup) c.5187_5201dup (p.Thr1734_Pro1735insProAlaGluProThr) c.5337_5351dup (p.Thr1784_Pro1785insProAlaGluProThr) c.*5853_*5867dup (n.*5853_*5867dup) c.*8089_*8103dup (n.*8089_*8103dup) c.5340_5354dup (p.Thr1785_Pro1786insProAlaGluProThr) c.5271_5285dup (p.Thr1762_Pro1763insProAlaGluProThr) c.5139_5153dup (p.Thr1718_Pro1719insProAlaGluProThr) c.5172_5186dup (p.Thr1729_Pro1730insProAlaGluProThr) c.1563_1577dup n.3222_3236dup c.3994_4008dup c.5199_5213dup (p.Thr1738_Pro1739insProAlaGluProThr) n.937_951dup c.5142_5156dup (p.Thr1719_Pro1720insProAlaGluProThr) c.5208_5222dup (p.Thr1741_Pro1742insProAlaGluProThr) c.5133_5147dup (p.Thr1716_Pro1717insProAlaGluProThr) n.2988_3002dup c.5265_5279dup (p.Thr1760_Pro1761insProAlaGluProThr) c.5211_5225dup (p.Thr1742_Pro1743insProAlaGluProThr) c.5226_5240dup (p.Thr1747_Pro1748insProAlaGluProThr) c.5136_5150dup (p.Thr1717_Pro1718insProAlaGluProThr) c.5261_5275dup n.3424_3438dup c.5334_5348dup (p.Thr1783_Pro1784insProAlaGluProThr) n.4155_4169dup n.2592_2606dup n.2563_2577dup n.2453_2467dup c.4995_5009dup (p.Thr1670_Pro1671insProAlaGluProThr) c.*4507_*4521dup (n.*4507_*4521dup) c.5031_5045dup (p.Thr1682_Pro1683insProAlaGluProThr) n.3063_3077dup c.1522_1536dup n.2455_2469dup c.5394_5408dup (p.Thr1803_Pro1804insProAlaGluProThr) c.5391_5405dup (p.Thr1802_Pro1803insProAlaGluProThr) c.5283_5297dup (p.Thr1766_Pro1767insProAlaGluProThr) c.5262_5276dup (p.Thr1759_Pro1760insProAlaGluProThr) c.4608_4622dup (p.Thr1541_Pro1542insProAlaGluProThr) c.5556_5570dup (p.Thr1857_Pro1858insProAlaGluProThr) c.5304_5318dup (p.Thr1773_Pro1774insProAlaGluProThr) c.4050_4064dup (p.Thr1355_Pro1356insProAlaGluProThr) | ClinVar |
16 | g.2088525C>A | CA394315654 | TSC2 | c.*3688C>A (n.*3688C>A) c.5186C>A (p.Thr1729Asn) c.5336C>A (p.Thr1779Asn) c.*5852C>A (n.*5852C>A) c.*8088C>A (n.*8088C>A) c.5339C>A (p.Thr1780Asn) c.5270C>A (p.Thr1757Asn) c.5138C>A (p.Thr1713Asn) c.5171C>A (p.Thr1724Asn) c.1562C>A n.3221C>A c.3993C>A c.5198C>A (p.Thr1733Asn) n.936C>A c.5141C>A (p.Thr1714Asn) c.5207C>A (p.Thr1736Asn) c.5132C>A (p.Thr1711Asn) n.2987C>A c.5264C>A (p.Thr1755Asn) c.5210C>A (p.Thr1737Asn) c.5225C>A (p.Thr1742Asn) c.5135C>A (p.Thr1712Asn) c.5260C>A n.3423C>A c.5333C>A (p.Thr1778Asn) n.4154C>A n.2591C>A n.2562C>A n.2452C>A c.4994C>A (p.Thr1665Asn) c.*4506C>A (n.*4506C>A) c.5030C>A (p.Thr1677Asn) n.3062C>A c.1521C>A n.2454C>A c.5393C>A (p.Thr1798Asn) c.5390C>A (p.Thr1797Asn) c.5282C>A (p.Thr1761Asn) c.5261C>A (p.Thr1754Asn) c.4607C>A (p.Thr1536Asn) c.5555C>A (p.Thr1852Asn) c.5303C>A (p.Thr1768Asn) c.4049C>A (p.Thr1350Asn) | |
16 | g.2088525C= | CA2202033997 | TSC2 | c.*3688C= (n.*3688C=) c.5186C= (p.Thr1729=) c.5336C= (p.Thr1779=) c.*5852C= (n.*5852C=) c.*8088C= (n.*8088C=) c.5339C= (p.Thr1780=) c.5270C= (p.Thr1757=) c.5138C= (p.Thr1713=) c.5171C= (p.Thr1724=) c.1562C= n.3221C= c.3993C= c.5198C= (p.Thr1733=) n.936C= c.5141C= (p.Thr1714=) c.5207C= (p.Thr1736=) c.5132C= (p.Thr1711=) n.2987C= c.5264C= (p.Thr1755=) c.5210C= (p.Thr1737=) c.5225C= (p.Thr1742=) c.5135C= (p.Thr1712=) c.5260C= n.3423C= c.5333C= (p.Thr1778=) n.4154C= n.2591C= n.2562C= n.2452C= c.4994C= (p.Thr1665=) c.*4506C= (n.*4506C=) c.5030C= (p.Thr1677=) n.3062C= c.1521C= n.2454C= c.5393C= (p.Thr1798=) c.5390C= (p.Thr1797=) c.5282C= (p.Thr1761=) c.5261C= (p.Thr1754=) c.4607C= (p.Thr1536=) c.5555C= (p.Thr1852=) c.5303C= (p.Thr1768=) c.4049C= (p.Thr1350=) | |
16 | g.2088525C>G | CA394315669 | TSC2 | c.*3688C>G (n.*3688C>G) c.5186C>G (p.Thr1729Ser) c.5336C>G (p.Thr1779Ser) c.*5852C>G (n.*5852C>G) c.*8088C>G (n.*8088C>G) c.5339C>G (p.Thr1780Ser) c.5270C>G (p.Thr1757Ser) c.5138C>G (p.Thr1713Ser) c.5171C>G (p.Thr1724Ser) c.1562C>G n.3221C>G c.3993C>G c.5198C>G (p.Thr1733Ser) n.936C>G c.5141C>G (p.Thr1714Ser) c.5207C>G (p.Thr1736Ser) c.5132C>G (p.Thr1711Ser) n.2987C>G c.5264C>G (p.Thr1755Ser) c.5210C>G (p.Thr1737Ser) c.5225C>G (p.Thr1742Ser) c.5135C>G (p.Thr1712Ser) c.5260C>G n.3423C>G c.5333C>G (p.Thr1778Ser) n.4154C>G n.2591C>G n.2562C>G n.2452C>G c.4994C>G (p.Thr1665Ser) c.*4506C>G (n.*4506C>G) c.5030C>G (p.Thr1677Ser) n.3062C>G c.1521C>G n.2454C>G c.5393C>G (p.Thr1798Ser) c.5390C>G (p.Thr1797Ser) c.5282C>G (p.Thr1761Ser) c.5261C>G (p.Thr1754Ser) c.4607C>G (p.Thr1536Ser) c.5555C>G (p.Thr1852Ser) c.5303C>G (p.Thr1768Ser) c.4049C>G (p.Thr1350Ser) | |
16 | g.2088525C>T | CA055164 | TSC2 | c.*3688C>T (n.*3688C>T) c.5186C>T (p.Thr1729Ile) c.5336C>T (p.Thr1779Ile) c.*5852C>T (n.*5852C>T) c.*8088C>T (n.*8088C>T) c.5339C>T (p.Thr1780Ile) c.5270C>T (p.Thr1757Ile) c.5138C>T (p.Thr1713Ile) c.5171C>T (p.Thr1724Ile) c.1562C>T n.3221C>T c.3993C>T c.5198C>T (p.Thr1733Ile) n.936C>T c.5141C>T (p.Thr1714Ile) c.5207C>T (p.Thr1736Ile) c.5132C>T (p.Thr1711Ile) n.2987C>T c.5264C>T (p.Thr1755Ile) c.5210C>T (p.Thr1737Ile) c.5225C>T (p.Thr1742Ile) c.5135C>T (p.Thr1712Ile) c.5260C>T n.3423C>T c.5333C>T (p.Thr1778Ile) n.4154C>T n.2591C>T n.2562C>T n.2452C>T c.4994C>T (p.Thr1665Ile) c.*4506C>T (n.*4506C>T) c.5030C>T (p.Thr1677Ile) n.3062C>T c.1521C>T n.2454C>T c.5393C>T (p.Thr1798Ile) c.5390C>T (p.Thr1797Ile) c.5282C>T (p.Thr1761Ile) c.5261C>T (p.Thr1754Ile) c.4607C>T (p.Thr1536Ile) c.5555C>T (p.Thr1852Ile) c.5303C>T (p.Thr1768Ile) c.4049C>T (p.Thr1350Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088526_2088527del | CA620705134 | TSC2 | c.*3689_*3690del (n.*3689_*3690del) c.5187_5188del (p.Pro1730SerfsTer8) c.5337_5338del (p.Pro1780SerfsTer8) c.*5853_*5854del (n.*5853_*5854del) c.*8089_*8090del (n.*8089_*8090del) c.5340_5341del (p.Pro1781SerfsTer8) c.5271_5272del (p.Pro1758SerfsTer8) c.5139_5140del (p.Pro1714SerfsTer8) c.5172_5173del (p.Pro1725SerfsTer8) c.1563_1564del n.3222_3223del c.3994_3995del c.5199_5200del (p.Pro1734SerfsTer8) n.937_938del c.5142_5143del (p.Pro1715SerfsTer8) c.5208_5209del (p.Pro1737SerfsTer8) c.5133_5134del (p.Pro1712SerfsTer8) n.2988_2989del c.5265_5266del (p.Pro1756SerfsTer8) c.5211_5212del (p.Pro1738SerfsTer8) c.5226_5227del (p.Pro1743SerfsTer8) c.5136_5137del (p.Pro1713SerfsTer8) c.5261_5262del n.3424_3425del c.5334_5335del (p.Pro1779SerfsTer8) n.4155_4156del n.2592_2593del n.2563_2564del n.2453_2454del c.4995_4996del (p.Pro1666SerfsTer8) c.*4507_*4508del (n.*4507_*4508del) c.5031_5032del (p.Pro1678SerfsTer8) n.3063_3064del c.1522_1523del n.2455_2456del c.5394_5395del (p.Pro1799SerfsTer8) c.5391_5392del (p.Pro1798SerfsTer8) c.5283_5284del (p.Pro1762SerfsTer8) c.5262_5263del (p.Pro1755SerfsTer8) c.4608_4609del (p.Pro1537SerfsTer8) c.5556_5557del (p.Pro1853SerfsTer8) c.5304_5305del (p.Pro1769SerfsTer8) c.4050_4051del (p.Pro1351SerfsTer8) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088525_2088557delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG | CA2202033996 | TSC2 | c.*3688_*3720delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (n.*3688_*3720delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG) c.5186_5218delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1729=) c.5336_5368delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1779=) c.*5852_*5884delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (n.*5852_*5884delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG) c.*8088_*8120delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (n.*8088_*8120delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG) c.5339_5371delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1780=) c.5270_5302delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1757=) c.5138_5170delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1713=) c.5171_5203delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1724=) c.1562_1594delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.3221_3253delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.3993_4025delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5198_5230delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1733=) n.936_968delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5141_5173delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1714=) c.5207_5239delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1736=) c.5132_5164delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1711=) n.2987_3019delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5264_5296delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1755=) c.5210_5242delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1737=) c.5225_5257delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1742=) c.5135_5167delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1712=) c.5260_5292delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.3423_3455delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5333_5365delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1778=) n.4154_4186delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.2591_2623delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.2562_2594delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.2452_2484delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.4994_5026delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1665=) c.*4506_*4538delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (n.*4506_*4538delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG) c.5030_5062delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1677=) n.3062_3094delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.1521_1553delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG n.2454_2486delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG c.5393_5425delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1798=) c.5390_5422delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1797=) c.5282_5314delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1761=) c.5261_5293delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1754=) c.4607_4639delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1536=) c.5555_5587delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1852=) c.5303_5335delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1768=) c.4049_4081delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGG (p.Thr1350=) | |
16 | g.2088526T>A | CA493043715 | TSC2 | c.*3689T>A (n.*3689T>A) c.5187T>A (p.Thr1729=) c.5337T>A (p.Thr1779=) c.*5853T>A (n.*5853T>A) c.*8089T>A (n.*8089T>A) c.5340T>A (p.Thr1780=) c.5271T>A (p.Thr1757=) c.5139T>A (p.Thr1713=) c.5172T>A (p.Thr1724=) c.1563T>A n.3222T>A c.3994T>A c.5199T>A (p.Thr1733=) n.937T>A c.5142T>A (p.Thr1714=) c.5208T>A (p.Thr1736=) c.5133T>A (p.Thr1711=) n.2988T>A c.5265T>A (p.Thr1755=) c.5211T>A (p.Thr1737=) c.5226T>A (p.Thr1742=) c.5136T>A (p.Thr1712=) c.5261T>A n.3424T>A c.5334T>A (p.Thr1778=) n.4155T>A n.2592T>A n.2563T>A n.2453T>A c.4995T>A (p.Thr1665=) c.*4507T>A (n.*4507T>A) c.5031T>A (p.Thr1677=) n.3063T>A c.1522T>A n.2455T>A c.5394T>A (p.Thr1798=) c.5391T>A (p.Thr1797=) c.5283T>A (p.Thr1761=) c.5262T>A (p.Thr1754=) c.4608T>A (p.Thr1536=) c.5556T>A (p.Thr1852=) c.5304T>A (p.Thr1768=) c.4050T>A (p.Thr1350=) | ClinVar dbSNP |
16 | g.2088526T>C | CA493043716 | TSC2 | c.*3689T>C (n.*3689T>C) c.5187T>C (p.Thr1729=) c.5337T>C (p.Thr1779=) c.*5853T>C (n.*5853T>C) c.*8089T>C (n.*8089T>C) c.5340T>C (p.Thr1780=) c.5271T>C (p.Thr1757=) c.5139T>C (p.Thr1713=) c.5172T>C (p.Thr1724=) c.1563T>C n.3222T>C c.3994T>C c.5199T>C (p.Thr1733=) n.937T>C c.5142T>C (p.Thr1714=) c.5208T>C (p.Thr1736=) c.5133T>C (p.Thr1711=) n.2988T>C c.5265T>C (p.Thr1755=) c.5211T>C (p.Thr1737=) c.5226T>C (p.Thr1742=) c.5136T>C (p.Thr1712=) c.5261T>C n.3424T>C c.5334T>C (p.Thr1778=) n.4155T>C n.2592T>C n.2563T>C n.2453T>C c.4995T>C (p.Thr1665=) c.*4507T>C (n.*4507T>C) c.5031T>C (p.Thr1677=) n.3063T>C c.1522T>C n.2455T>C c.5394T>C (p.Thr1798=) c.5391T>C (p.Thr1797=) c.5283T>C (p.Thr1761=) c.5262T>C (p.Thr1754=) c.4608T>C (p.Thr1536=) c.5556T>C (p.Thr1852=) c.5304T>C (p.Thr1768=) c.4050T>C (p.Thr1350=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088526T>G | CA493043717 | TSC2 | c.*3689T>G (n.*3689T>G) c.5187T>G (p.Thr1729=) c.5337T>G (p.Thr1779=) c.*5853T>G (n.*5853T>G) c.*8089T>G (n.*8089T>G) c.5340T>G (p.Thr1780=) c.5271T>G (p.Thr1757=) c.5139T>G (p.Thr1713=) c.5172T>G (p.Thr1724=) c.1563T>G n.3222T>G c.3994T>G c.5199T>G (p.Thr1733=) n.937T>G c.5142T>G (p.Thr1714=) c.5208T>G (p.Thr1736=) c.5133T>G (p.Thr1711=) n.2988T>G c.5265T>G (p.Thr1755=) c.5211T>G (p.Thr1737=) c.5226T>G (p.Thr1742=) c.5136T>G (p.Thr1712=) c.5261T>G n.3424T>G c.5334T>G (p.Thr1778=) n.4155T>G n.2592T>G n.2563T>G n.2453T>G c.4995T>G (p.Thr1665=) c.*4507T>G (n.*4507T>G) c.5031T>G (p.Thr1677=) n.3063T>G c.1522T>G n.2455T>G c.5394T>G (p.Thr1798=) c.5391T>G (p.Thr1797=) c.5283T>G (p.Thr1761=) c.5262T>G (p.Thr1754=) c.4608T>G (p.Thr1536=) c.5556T>G (p.Thr1852=) c.5304T>G (p.Thr1768=) c.4050T>G (p.Thr1350=) | ClinVar dbSNP |
16 | g.2088526T= | CA2202034009 | TSC2 | c.*3689T= (n.*3689T=) c.5187T= (p.Thr1729=) c.5337T= (p.Thr1779=) c.*5853T= (n.*5853T=) c.*8089T= (n.*8089T=) c.5340T= (p.Thr1780=) c.5271T= (p.Thr1757=) c.5139T= (p.Thr1713=) c.5172T= (p.Thr1724=) c.1563T= n.3222T= c.3994T= c.5199T= (p.Thr1733=) n.937T= c.5142T= (p.Thr1714=) c.5208T= (p.Thr1736=) c.5133T= (p.Thr1711=) n.2988T= c.5265T= (p.Thr1755=) c.5211T= (p.Thr1737=) c.5226T= (p.Thr1742=) c.5136T= (p.Thr1712=) c.5261T= n.3424T= c.5334T= (p.Thr1778=) n.4155T= n.2592T= n.2563T= n.2453T= c.4995T= (p.Thr1665=) c.*4507T= (n.*4507T=) c.5031T= (p.Thr1677=) n.3063T= c.1522T= n.2455T= c.5394T= (p.Thr1798=) c.5391T= (p.Thr1797=) c.5283T= (p.Thr1761=) c.5262T= (p.Thr1754=) c.4608T= (p.Thr1536=) c.5556T= (p.Thr1852=) c.5304T= (p.Thr1768=) c.4050T= (p.Thr1350=) | |
16 | g.2088526dup | CA2838629630 | TSC2 | c.*3689dup (n.*3689dup) c.5187dup (p.Pro1730SerfsTer9) c.5337dup (p.Pro1780SerfsTer9) c.*5853dup (n.*5853dup) c.*8089dup (n.*8089dup) c.5340dup (p.Pro1781SerfsTer9) c.5271dup (p.Pro1758SerfsTer9) c.5139dup (p.Pro1714SerfsTer9) c.5172dup (p.Pro1725SerfsTer9) c.1563dup n.3222dup c.3994dup c.5199dup (p.Pro1734SerfsTer9) n.937dup c.5142dup (p.Pro1715SerfsTer9) c.5208dup (p.Pro1737SerfsTer9) c.5133dup (p.Pro1712SerfsTer9) n.2988dup c.5265dup (p.Pro1756SerfsTer9) c.5211dup (p.Pro1738SerfsTer9) c.5226dup (p.Pro1743SerfsTer9) c.5136dup (p.Pro1713SerfsTer9) c.5261dup n.3424dup c.5334dup (p.Pro1779SerfsTer9) n.4155dup n.2592dup n.2563dup n.2453dup c.4995dup (p.Pro1666SerfsTer9) c.*4507dup (n.*4507dup) c.5031dup (p.Pro1678SerfsTer9) n.3063dup c.1522dup n.2455dup c.5394dup (p.Pro1799SerfsTer9) c.5391dup (p.Pro1798SerfsTer9) c.5283dup (p.Pro1762SerfsTer9) c.5262dup (p.Pro1755SerfsTer9) c.4608dup (p.Pro1537SerfsTer9) c.5556dup (p.Pro1853SerfsTer9) c.5304dup (p.Pro1769SerfsTer9) c.4050dup (p.Pro1351SerfsTer9) | |
16 | g.2088526_2088557del | CA022400 | TSC2 | c.*3689_*3720del (n.*3689_*3720del) c.5187_5218del (p.Pro1733AlafsTer?) c.5337_5368del (p.Pro1783AlafsTer?) c.*5853_*5884del (n.*5853_*5884del) c.*8089_*8120del (n.*8089_*8120del) c.5340_5371del (p.Pro1784AlafsTer?) c.5271_5302del (p.Pro1761AlafsTer?) c.5139_5170del (p.Pro1717AlafsTer?) c.5172_5203del (p.Pro1728AlafsTer?) c.1563_1594del n.3222_3253del c.3994_4025del c.5199_5230del (p.Pro1737AlafsTer?) n.937_968del c.5142_5173del (p.Pro1718AlafsTer?) c.5208_5239del (p.Pro1740AlafsTer?) c.5133_5164del (p.Pro1715AlafsTer?) n.2988_3019del c.5265_5296del (p.Pro1759AlafsTer?) c.5211_5242del (p.Pro1741AlafsTer?) c.5226_5257del (p.Pro1746AlafsTer?) c.5136_5167del (p.Pro1716AlafsTer?) c.5261_5292del n.3424_3455del c.5334_5365del (p.Pro1782AlafsTer?) n.4155_4186del n.2592_2623del n.2563_2594del n.2453_2484del c.4995_5026del (p.Pro1669AlafsTer?) c.*4507_*4538del (n.*4507_*4538del) c.5031_5062del (p.Pro1681AlafsTer?) n.3063_3094del c.1522_1553del n.2455_2486del c.5394_5425del (p.Pro1802AlafsTer?) c.5391_5422del (p.Pro1801AlafsTer?) c.5283_5314del (p.Pro1765AlafsTer?) c.5262_5293del (p.Pro1758AlafsTer?) c.4608_4639del (p.Pro1540AlafsTer?) c.5556_5587del (p.Pro1856AlafsTer?) c.5304_5335del (p.Pro1772AlafsTer?) c.4050_4081del (p.Pro1354AlafsTer?) | ClinVar dbSNP |
16 | g.2088527C>A | CA394315676 | TSC2 | c.*3690C>A (n.*3690C>A) c.5188C>A (p.Pro1730Thr) c.5338C>A (p.Pro1780Thr) c.*5854C>A (n.*5854C>A) c.*8090C>A (n.*8090C>A) c.5341C>A (p.Pro1781Thr) c.5272C>A (p.Pro1758Thr) c.5140C>A (p.Pro1714Thr) c.5173C>A (p.Pro1725Thr) c.1564C>A n.3223C>A c.3995C>A c.5200C>A (p.Pro1734Thr) n.938C>A c.5143C>A (p.Pro1715Thr) c.5209C>A (p.Pro1737Thr) c.5134C>A (p.Pro1712Thr) n.2989C>A c.5266C>A (p.Pro1756Thr) c.5212C>A (p.Pro1738Thr) c.5227C>A (p.Pro1743Thr) c.5137C>A (p.Pro1713Thr) c.5262C>A n.3425C>A c.5335C>A (p.Pro1779Thr) n.4156C>A n.2593C>A n.2564C>A n.2454C>A c.4996C>A (p.Pro1666Thr) c.*4508C>A (n.*4508C>A) c.5032C>A (p.Pro1678Thr) n.3064C>A c.1523C>A n.2456C>A c.5395C>A (p.Pro1799Thr) c.5392C>A (p.Pro1798Thr) c.5284C>A (p.Pro1762Thr) c.5263C>A (p.Pro1755Thr) c.4609C>A (p.Pro1537Thr) c.5557C>A (p.Pro1853Thr) c.5305C>A (p.Pro1769Thr) c.4051C>A (p.Pro1351Thr) | ClinVar dbSNP |
16 | g.2088527C= | CA2202034016 | TSC2 | c.*3690C= (n.*3690C=) c.5188C= (p.Pro1730=) c.5338C= (p.Pro1780=) c.*5854C= (n.*5854C=) c.*8090C= (n.*8090C=) c.5341C= (p.Pro1781=) c.5272C= (p.Pro1758=) c.5140C= (p.Pro1714=) c.5173C= (p.Pro1725=) c.1564C= n.3223C= c.3995C= c.5200C= (p.Pro1734=) n.938C= c.5143C= (p.Pro1715=) c.5209C= (p.Pro1737=) c.5134C= (p.Pro1712=) n.2989C= c.5266C= (p.Pro1756=) c.5212C= (p.Pro1738=) c.5227C= (p.Pro1743=) c.5137C= (p.Pro1713=) c.5262C= n.3425C= c.5335C= (p.Pro1779=) n.4156C= n.2593C= n.2564C= n.2454C= c.4996C= (p.Pro1666=) c.*4508C= (n.*4508C=) c.5032C= (p.Pro1678=) n.3064C= c.1523C= n.2456C= c.5395C= (p.Pro1799=) c.5392C= (p.Pro1798=) c.5284C= (p.Pro1762=) c.5263C= (p.Pro1755=) c.4609C= (p.Pro1537=) c.5557C= (p.Pro1853=) c.5305C= (p.Pro1769=) c.4051C= (p.Pro1351=) | |
16 | g.2088527C>G | CA394315679 | TSC2 | c.*3690C>G (n.*3690C>G) c.5188C>G (p.Pro1730Ala) c.5338C>G (p.Pro1780Ala) c.*5854C>G (n.*5854C>G) c.*8090C>G (n.*8090C>G) c.5341C>G (p.Pro1781Ala) c.5272C>G (p.Pro1758Ala) c.5140C>G (p.Pro1714Ala) c.5173C>G (p.Pro1725Ala) c.1564C>G n.3223C>G c.3995C>G c.5200C>G (p.Pro1734Ala) n.938C>G c.5143C>G (p.Pro1715Ala) c.5209C>G (p.Pro1737Ala) c.5134C>G (p.Pro1712Ala) n.2989C>G c.5266C>G (p.Pro1756Ala) c.5212C>G (p.Pro1738Ala) c.5227C>G (p.Pro1743Ala) c.5137C>G (p.Pro1713Ala) c.5262C>G n.3425C>G c.5335C>G (p.Pro1779Ala) n.4156C>G n.2593C>G n.2564C>G n.2454C>G c.4996C>G (p.Pro1666Ala) c.*4508C>G (n.*4508C>G) c.5032C>G (p.Pro1678Ala) n.3064C>G c.1523C>G n.2456C>G c.5395C>G (p.Pro1799Ala) c.5392C>G (p.Pro1798Ala) c.5284C>G (p.Pro1762Ala) c.5263C>G (p.Pro1755Ala) c.4609C>G (p.Pro1537Ala) c.5557C>G (p.Pro1853Ala) c.5305C>G (p.Pro1769Ala) c.4051C>G (p.Pro1351Ala) | ClinVar dbSNP |
16 | g.2088527C>T | CA394315682 | TSC2 | c.*3690C>T (n.*3690C>T) c.5188C>T (p.Pro1730Ser) c.5338C>T (p.Pro1780Ser) c.*5854C>T (n.*5854C>T) c.*8090C>T (n.*8090C>T) c.5341C>T (p.Pro1781Ser) c.5272C>T (p.Pro1758Ser) c.5140C>T (p.Pro1714Ser) c.5173C>T (p.Pro1725Ser) c.1564C>T n.3223C>T c.3995C>T c.5200C>T (p.Pro1734Ser) n.938C>T c.5143C>T (p.Pro1715Ser) c.5209C>T (p.Pro1737Ser) c.5134C>T (p.Pro1712Ser) n.2989C>T c.5266C>T (p.Pro1756Ser) c.5212C>T (p.Pro1738Ser) c.5227C>T (p.Pro1743Ser) c.5137C>T (p.Pro1713Ser) c.5262C>T n.3425C>T c.5335C>T (p.Pro1779Ser) n.4156C>T n.2593C>T n.2564C>T n.2454C>T c.4996C>T (p.Pro1666Ser) c.*4508C>T (n.*4508C>T) c.5032C>T (p.Pro1678Ser) n.3064C>T c.1523C>T n.2456C>T c.5395C>T (p.Pro1799Ser) c.5392C>T (p.Pro1798Ser) c.5284C>T (p.Pro1762Ser) c.5263C>T (p.Pro1755Ser) c.4609C>T (p.Pro1537Ser) c.5557C>T (p.Pro1853Ser) c.5305C>T (p.Pro1769Ser) c.4051C>T (p.Pro1351Ser) | |
16 | g.2088528C>A | CA394315685 | TSC2 | c.*3691C>A (n.*3691C>A) c.5189C>A (p.Pro1730Gln) c.5339C>A (p.Pro1780Gln) c.*5855C>A (n.*5855C>A) c.*8091C>A (n.*8091C>A) c.5342C>A (p.Pro1781Gln) c.5273C>A (p.Pro1758Gln) c.5141C>A (p.Pro1714Gln) c.5174C>A (p.Pro1725Gln) c.1565C>A n.3224C>A c.3996C>A c.5201C>A (p.Pro1734Gln) n.939C>A c.5144C>A (p.Pro1715Gln) c.5210C>A (p.Pro1737Gln) c.5135C>A (p.Pro1712Gln) n.2990C>A c.5267C>A (p.Pro1756Gln) c.5213C>A (p.Pro1738Gln) c.5228C>A (p.Pro1743Gln) c.5138C>A (p.Pro1713Gln) c.5263C>A n.3426C>A c.5336C>A (p.Pro1779Gln) n.4157C>A n.2594C>A n.2565C>A n.2455C>A c.4997C>A (p.Pro1666Gln) c.*4509C>A (n.*4509C>A) c.5033C>A (p.Pro1678Gln) n.3065C>A c.1524C>A n.2457C>A c.5396C>A (p.Pro1799Gln) c.5393C>A (p.Pro1798Gln) c.5285C>A (p.Pro1762Gln) c.5264C>A (p.Pro1755Gln) c.4610C>A (p.Pro1537Gln) c.5558C>A (p.Pro1853Gln) c.5306C>A (p.Pro1769Gln) c.4052C>A (p.Pro1351Gln) | |
16 | g.2088528C= | CA2202034022 | TSC2 | c.*3691C= (n.*3691C=) c.5189C= (p.Pro1730=) c.5339C= (p.Pro1780=) c.*5855C= (n.*5855C=) c.*8091C= (n.*8091C=) c.5342C= (p.Pro1781=) c.5273C= (p.Pro1758=) c.5141C= (p.Pro1714=) c.5174C= (p.Pro1725=) c.1565C= n.3224C= c.3996C= c.5201C= (p.Pro1734=) n.939C= c.5144C= (p.Pro1715=) c.5210C= (p.Pro1737=) c.5135C= (p.Pro1712=) n.2990C= c.5267C= (p.Pro1756=) c.5213C= (p.Pro1738=) c.5228C= (p.Pro1743=) c.5138C= (p.Pro1713=) c.5263C= n.3426C= c.5336C= (p.Pro1779=) n.4157C= n.2594C= n.2565C= n.2455C= c.4997C= (p.Pro1666=) c.*4509C= (n.*4509C=) c.5033C= (p.Pro1678=) n.3065C= c.1524C= n.2457C= c.5396C= (p.Pro1799=) c.5393C= (p.Pro1798=) c.5285C= (p.Pro1762=) c.5264C= (p.Pro1755=) c.4610C= (p.Pro1537=) c.5558C= (p.Pro1853=) c.5306C= (p.Pro1769=) c.4052C= (p.Pro1351=) | |
16 | g.2088528C>G | CA394315686 | TSC2 | c.*3691C>G (n.*3691C>G) c.5189C>G (p.Pro1730Arg) c.5339C>G (p.Pro1780Arg) c.*5855C>G (n.*5855C>G) c.*8091C>G (n.*8091C>G) c.5342C>G (p.Pro1781Arg) c.5273C>G (p.Pro1758Arg) c.5141C>G (p.Pro1714Arg) c.5174C>G (p.Pro1725Arg) c.1565C>G n.3224C>G c.3996C>G c.5201C>G (p.Pro1734Arg) n.939C>G c.5144C>G (p.Pro1715Arg) c.5210C>G (p.Pro1737Arg) c.5135C>G (p.Pro1712Arg) n.2990C>G c.5267C>G (p.Pro1756Arg) c.5213C>G (p.Pro1738Arg) c.5228C>G (p.Pro1743Arg) c.5138C>G (p.Pro1713Arg) c.5263C>G n.3426C>G c.5336C>G (p.Pro1779Arg) n.4157C>G n.2594C>G n.2565C>G n.2455C>G c.4997C>G (p.Pro1666Arg) c.*4509C>G (n.*4509C>G) c.5033C>G (p.Pro1678Arg) n.3065C>G c.1524C>G n.2457C>G c.5396C>G (p.Pro1799Arg) c.5393C>G (p.Pro1798Arg) c.5285C>G (p.Pro1762Arg) c.5264C>G (p.Pro1755Arg) c.4610C>G (p.Pro1537Arg) c.5558C>G (p.Pro1853Arg) c.5306C>G (p.Pro1769Arg) c.4052C>G (p.Pro1351Arg) | |
16 | g.2088528C>T | CA10583347 | TSC2 | c.*3691C>T (n.*3691C>T) c.5189C>T (p.Pro1730Leu) c.5339C>T (p.Pro1780Leu) c.*5855C>T (n.*5855C>T) c.*8091C>T (n.*8091C>T) c.5342C>T (p.Pro1781Leu) c.5273C>T (p.Pro1758Leu) c.5141C>T (p.Pro1714Leu) c.5174C>T (p.Pro1725Leu) c.1565C>T n.3224C>T c.3996C>T c.5201C>T (p.Pro1734Leu) n.939C>T c.5144C>T (p.Pro1715Leu) c.5210C>T (p.Pro1737Leu) c.5135C>T (p.Pro1712Leu) n.2990C>T c.5267C>T (p.Pro1756Leu) c.5213C>T (p.Pro1738Leu) c.5228C>T (p.Pro1743Leu) c.5138C>T (p.Pro1713Leu) c.5263C>T n.3426C>T c.5336C>T (p.Pro1779Leu) n.4157C>T n.2594C>T n.2565C>T n.2455C>T c.4997C>T (p.Pro1666Leu) c.*4509C>T (n.*4509C>T) c.5033C>T (p.Pro1678Leu) n.3065C>T c.1524C>T n.2457C>T c.5396C>T (p.Pro1799Leu) c.5393C>T (p.Pro1798Leu) c.5285C>T (p.Pro1762Leu) c.5264C>T (p.Pro1755Leu) c.4610C>T (p.Pro1537Leu) c.5558C>T (p.Pro1853Leu) c.5306C>T (p.Pro1769Leu) c.4052C>T (p.Pro1351Leu) | ClinVar dbSNP gnomAD v4 |