UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.2088426_2088455delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG | CA2202033117 | TSC2 | c.*3609-20_*3618delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5107-20_5116delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5257-20_5266delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.*5773-20_*5782delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.*8009-20_*8018delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5260-20_5269delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5191-20_5200delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5059-20_5068delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5092-20_5101delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.1483-20_1492delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.3142-20_3151delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.3914-20_3923delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5119-20_5128delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.857-20_866delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5062-20_5071delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5128-20_5137delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5053-20_5062delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.2908-20_2917delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5185-20_5194delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5131-20_5140delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5146-20_5155delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5056-20_5065delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5181-20_5190delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.3344-20_3353delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5254-20_5263delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.4075-20_4084delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.2512-20_2521delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.2483-20_2492delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.2373-20_2382delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.4915-20_4924delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.*4427-20_*4436delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.4951-20_4960delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.2983-20_2992delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.1442-20_1451delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG n.2375-20_2384delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5314-20_5323delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5311-20_5320delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5203-20_5212delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5182-20_5191delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.4528-20_4537delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5476-20_5485delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.5224-20_5233delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG c.3970-20_3979delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGG | |
| 16 | g.2088436_2088464del | CA7828402 | TSC2 | c.*3609-10_*3627del c.5107-10_5125del c.5257-10_5275del c.*5773-10_*5791del c.*8009-10_*8027del c.5260-10_5278del c.5191-10_5209del c.5059-10_5077del c.5092-10_5110del c.1483-10_1501del n.3142-10_3160del c.3914-10_3932del c.5119-10_5137del n.857-10_875del c.5062-10_5080del c.5128-10_5146del c.5053-10_5071del n.2908-10_2926del c.5185-10_5203del c.5131-10_5149del c.5146-10_5164del c.5056-10_5074del c.5181-10_5199del n.3344-10_3362del c.5254-10_5272del n.4075-10_4093del n.2512-10_2530del n.2483-10_2501del n.2373-10_2391del c.4915-10_4933del c.*4427-10_*4445del c.4951-10_4969del n.2983-10_3001del c.1442-10_1460del n.2375-10_2393del c.5314-10_5332del c.5311-10_5329del c.5203-10_5221del c.5182-10_5200del c.4528-10_4546del c.5476-10_5494del c.5224-10_5242del c.3970-10_3988del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2088436_2088465delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA | CA2202033183 | TSC2 | c.*3609-10_*3628delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5107-10_5126delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5257-10_5276delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.*5773-10_*5792delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.*8009-10_*8028delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5260-10_5279delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5191-10_5210delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5059-10_5078delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5092-10_5111delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.1483-10_1502delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.3142-10_3161delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.3914-10_3933delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5119-10_5138delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.857-10_876delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5062-10_5081delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5128-10_5147delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5053-10_5072delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.2908-10_2927delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5185-10_5204delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5131-10_5150delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5146-10_5165delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5056-10_5075delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5181-10_5200delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.3344-10_3363delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5254-10_5273delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.4075-10_4094delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.2512-10_2531delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.2483-10_2502delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.2373-10_2392delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.4915-10_4934delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.*4427-10_*4446delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.4951-10_4970delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.2983-10_3002delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.1442-10_1461delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA n.2375-10_2394delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5314-10_5333delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5311-10_5330delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5203-10_5222delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5182-10_5201delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.4528-10_4547delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5476-10_5495delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.5224-10_5243delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA c.3970-10_3989delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTA | |
| 16 | g.2088437_2088465del | CA16615202 | TSC2 | c.*3609-9_*3628del c.5107-9_5126del c.5257-9_5276del c.*5773-9_*5792del c.*8009-9_*8028del c.5260-9_5279del c.5191-9_5210del c.5059-9_5078del c.5092-9_5111del c.1483-9_1502del n.3142-9_3161del c.3914-9_3933del c.5119-9_5138del n.857-9_876del c.5062-9_5081del c.5128-9_5147del c.5053-9_5072del n.2908-9_2927del c.5185-9_5204del c.5131-9_5150del c.5146-9_5165del c.5056-9_5075del c.5181-9_5200del n.3344-9_3363del c.5254-9_5273del n.4075-9_4094del n.2512-9_2531del n.2483-9_2502del n.2373-9_2392del c.4915-9_4934del c.*4427-9_*4446del c.4951-9_4970del n.2983-9_3002del c.1442-9_1461del n.2375-9_2394del c.5314-9_5333del c.5311-9_5330del c.5203-9_5222del c.5182-9_5201del c.4528-9_4547del c.5476-9_5495del c.5224-9_5243del c.3970-9_3989del | ClinVar dbSNP gnomAD v4 |
| 16 | g.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) |