Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2088308_2088468delCA2697549443TSC2c.*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
16g.2088359_2088453dupCA973770759TSC2c.*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
16g.2088373_2088460delinsTGTGGGGCGGGTGTGTGGGCAGAGCGGTTGCCACGCCTCCCAGACTTACTGCCCAAGCCGCCTCTGCCTTCAGATCTGCGAGGAAGCCCA2202032953TSC2c.*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
16g.2088375_2088461delCA973770765TSC2c.*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
16g.2088412_2088436delCA2695221756TSC2c.*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)
16g.2088426_2088455delinsCAAGCCGCCTCTGCCTTCAGATCTGCGAGGCA2202033117TSC2c.*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
16g.2088436_2088464delCA7828402TSC2c.*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
16g.2088431_2088437delinsCGCCTCTCA2202033150TSC2c.*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)
16g.2088432G>ACA054719TSC2c.*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
16g.2088432G>CCA2631119328TSC2c.*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
16g.2088432G=CA2202033155TSC2c.*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=)
16g.2088432G>TCA2573151984TSC2c.*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
16g.2088433_2088434insTTGCCA2697549444TSC2c.*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
16g.2088436_2088441delCA054721TSC2c.*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
16g.2088433C>ACA2573151985TSC2c.*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
16g.2088433C=CA2202033158TSC2c.*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=)
16g.2088433C>TCA718905476TSC2c.*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
16g.2088434C=CA2202033163TSC2c.*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=)
16g.2088434C>TCA054715TSC2c.*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
16g.2088435T>ACA2580091177TSC2c.*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
16g.2088435T>CCA2631119342TSC2c.*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
16g.2088436C=CA2202033169TSC2c.*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=)
16g.2088436C>GCA2202033181TSC2c.*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
16g.2088436C>TCA2202033172TSC2c.*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
16g.2088436_2088465delinsCTGCCTTCAGATCTGCGAGGAAGCCGCCTACA2202033183TSC2c.*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
16g.2088437T>CCA054815TSC2c.*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
16g.2088437T=CA2202033196TSC2c.*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=)
16g.2088438_2088439insGTGCA2631119350TSC2c.*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
16g.2088437_2088465delCA16615202TSC2c.*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
16g.2088438G>ACA2580091178TSC2c.*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
16g.2088438G>CCA2731831855TSC2c.*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
16g.2088438_2088441delinsGCCTCA2202033200TSC2c.*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)
16g.2088439C>ACA915946267TSC2c.*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
16g.2088439C=CA2202033208TSC2c.*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=)
16g.2088439C>GCA2573151986TSC2c.*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
16g.2088439C>TCA2573151987TSC2c.*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
16g.2088439_2088441delinsGTGCCA891844205TSC2c.*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
16g.2088440C>GCA2631119362TSC2c.*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
16g.2088440C>TCA2575877619TSC2c.*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
16g.2088440_2088441delCA2631119360TSC2c.*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
16g.2088441T>CCA2739269939TSC2c.*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
16g.2088441T>GCA2805573948TSC2c.*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)
16g.2088442T>ACA2731831859TSC2c.*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
16g.2088443C>TCA2575877622TSC2c.*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
16g.2088444A=CA2202033212TSC2c.*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=)
16g.2088444A>CCA394314985TSC2c.*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
16g.2088444A>GCA394314992TSC2c.*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
16g.2088444A>TCA394314997TSC2c.*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)
16g.2088445G>ACA394314998TSC2c.*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
16g.2088445G>CCA16043000TSC2c.*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
16g.2088445G=CA2202033216TSC2c.*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=)
16g.2088445G>TCA394315003TSC2c.*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)
16g.2088446A>CCA394315007TSC2c.*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)
16g.2088446A>GCA394315009TSC2c.*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
16g.2088446A>TCA394315005TSC2c.*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)
16g.2088447T>ACA394315012TSC2c.*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)
16g.2088447T>CCA394315014TSC2c.*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
16g.2088447T>GCA054821TSC2c.*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
16g.2088447T=CA2202033232TSC2c.*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=)
16g.2088447_2088448delinsTCCA2202033229TSC2c.*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=)
16g.2088448delCA319578TSC2c.*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
16g.2088448C>ACA054835TSC2c.*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
16g.2088448C=CA2202033244TSC2c.*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=)
16g.2088448C>GCA054841TSC2c.*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
16g.2088448C>TCA022339TSC2c.*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
16g.2088449T>ACA394315029TSC2c.*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)
16g.2088449T>CCA394315026TSC2c.*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
16g.2088449T>GCA394315027TSC2c.*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)
16g.2088450G>ACA054855TSC2c.*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
16g.2088450G>CCA394315040TSC2c.*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)
16g.2088450G=CA2202033254TSC2c.*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=)
16g.2088450G>TCA394315042TSC2c.*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
16g.2088451C>ACA394315045TSC2c.*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)
16g.2088451C=CA2202033267TSC2c.*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=)
16g.2088451C>GCA394315048TSC2c.*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
16g.2088451C>TCA022344TSC2c.*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
16g.2088451_2088452delinsCGCA2202033271TSC2c.*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=)
16g.2088452delCA10583345TSC2c.*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
16g.2088452G>ACA054884TSC2c.*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
16g.2088452G>CCA394315058TSC2c.*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
16g.2088452G=CA2202033282TSC2c.*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=)
16g.2088452G>TCA394315056TSC2c.*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
16g.2088452_2088462delinsCTTCAGATCA2580091180TSC2c.*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
16g.2088453A=CA2202033293TSC2c.*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=)
16g.2088453A>CCA394315072TSC2c.*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)
16g.2088453A>GCA10643155TSC2c.*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
16g.2088453A>TCA394315076TSC2c.*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)
16g.2088454G>ACA493043648TSC2c.*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
16g.2088454G>CCA054895TSC2c.*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
16g.2088454G=CA2202033306TSC2c.*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=)
16g.2088454G>TCA394315083TSC2c.*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)
16g.2088455G>ACA16615048TSC2c.*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
16g.2088455G>CCA394315101TSC2c.*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)
16g.2088455G=CA2202033335TSC2c.*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=)
16g.2088455G>TCA394315104TSC2c.*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)
16g.2088455_2088456dupCA022353TSC2c.*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
16g.2088456A>CCA394315110TSC2c.*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
16g.2088456A>GCA394315114TSC2c.*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
16g.2088456A>TCA394315116TSC2c.*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)
16g.2088457A=CA2202033344TSC2c.*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=)
16g.2088457A>CCA16614803TSC2c.*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
16g.2088457A>GCA493043651TSC2c.*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
16g.2088457A>TCA394315121TSC2c.*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)
16g.2088458G>ACA394315127TSC2c.*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
16g.2088458G>CCA394315130TSC2c.*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
16g.2088458G=CA2202033367TSC2c.*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=)
16g.2088458G>TCA394315132TSC2c.*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)
16g.2088459C>ACA394315139TSC2c.*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)
16g.2088459C=CA2202033374TSC2c.*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=)
16g.2088459C>GCA054906TSC2c.*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
16g.2088459C>TCA394315135TSC2c.*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
16g.2088460C>ACA493043655TSC2c.*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
16g.2088460C=CA2202033383TSC2c.*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=)
16g.2088460C>GCA493043654TSC2c.*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=)
16g.2088460C>TCA054919TSC2c.*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
16g.2088460_2088476delinsCGCCTACTCCAACCCCACA2202033385TSC2c.*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=)
16g.2088461G>ACA022355TSC2c.*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
16g.2088461G>CCA394315146TSC2c.*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
16g.2088461G=CA2202033399TSC2c.*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=)
16g.2088461G>TCA394315149TSC2c.*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)
16g.2088467_2088482delCA16614837TSC2c.*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
16g.2088462C>ACA022359TSC2c.*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
16g.2088462C=CA2202033415TSC2c.*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=)
16g.2088462C>GCA394315162TSC2c.*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)
16g.2088462C>TCA054932TSC2c.*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
16g.2088463delCA2697549445TSC2c.*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
16g.2088463C>ACA493043657TSC2c.*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=)
16g.2088463C>GCA493043658TSC2c.*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
16g.2088463C>TCA493043659TSC2c.*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
16g.2088464delCA2695221757TSC2c.*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?)
16g.2088464T>ACA394315167TSC2c.*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)
16g.2088464T>CCA394315169TSC2c.*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
16g.2088464T>GCA394315174TSC2c.*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)
16g.2088465A=CA2202033421TSC2c.*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=)
16g.2088465A>CCA394315177TSC2c.*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
16g.2088465A>GCA394315180TSC2c.*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
16g.2088465A>TCA394315182TSC2c.*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)
16g.2088465_2088468dupCA2580091185TSC2c.*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
16g.2088466delCA2580091186TSC2c.*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
16g.2088466C>ACA394315198TSC2c.*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
16g.2088466C=CA2202033430TSC2c.*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=)
16g.2088466C>GCA394315185TSC2c.*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)
16g.2088466C>TCA493043662TSC2c.*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
16g.2088467T>ACA394315206TSC2c.*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)
16g.2088467T>CCA394315208TSC2c.*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)
16g.2088467T>GCA394315210TSC2c.*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)
16g.2088468C>ACA394315214TSC2c.*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
16g.2088468C>GCA394315217TSC2c.*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)
 gnomAD v4
16g.2088468C>TCA394315220TSC2c.*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
16g.2088469C>ACA493043666TSC2c.*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
16g.2088469C=CA2202033438TSC2c.*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=)
16g.2088469C>GCA493043667TSC2c.*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=)
16g.2088469C>TCA054945TSC2c.*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
16g.2088469_2088470delinsCACA2202033436TSC2c.*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=)
16g.2088470A=CA2202033448TSC2c.*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=)
16g.2088470A>CCA394315227TSC2c.*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
16g.2088470A>GCA394315233TSC2c.*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
16g.2088470A>TCA394315231TSC2c.*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)
16g.2088471delCA022362TSC2c.*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
16g.2088471A=CA2202033456TSC2c.*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=)
16g.2088471A>CCA394315238TSC2c.*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)
16g.2088471A>GCA394315241TSC2c.*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
16g.2088471A>TCA394315242TSC2c.*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)
16g.2088471_2088472delinsACCA2202033459TSC2c.*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=)
16g.2088472C>ACA394315247TSC2c.*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
16g.2088472C=CA2202033469TSC2c.*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=)
16g.2088472C>GCA394315243TSC2c.*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)
16g.2088472C>TCA054947TSC2c.*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
16g.2088475delCA658798503TSC2c.*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
16g.2088473C>ACA394315249TSC2c.*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
16g.2088473C>GCA394315252TSC2c.*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)
16g.2088473C>TCA394315254TSC2c.*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
16g.2088474C>ACA394315260TSC2c.*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
16g.2088474C=CA2202033480TSC2c.*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=)
16g.2088474C>GCA16615206TSC2c.*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
16g.2088474C>TCA054957TSC2c.*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
16g.2088475C>ACA493043671TSC2c.*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=)
16g.2088475C=CA2202033486TSC2c.*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=)
16g.2088475C>GCA493043670TSC2c.*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=)
16g.2088475C>TCA054967TSC2c.*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
16g.2088476A>CCA394315268TSC2c.*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
16g.2088476A>GCA394315271TSC2c.*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)
16g.2088476A>TCA394315272TSC2c.*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
16g.2088477G>ACA276759923TSC2c.*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
16g.2088477G>CCA394315277TSC2c.*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
16g.2088477G=CA2202033505TSC2c.*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=)
16g.2088477G>TCA394315279TSC2c.*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)
16g.2088478C>ACA394315281TSC2c.*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
16g.2088478C=CA2202033516TSC2c.*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=)
16g.2088478C>GCA394315285TSC2c.*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
16g.2088478C>TCA054978TSC2c.*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
16g.2088481_2088496dupCA2805573952TSC2c.*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)
16g.2088479C>ACA394315286TSC2c.*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
16g.2088479C=CA2202033544TSC2c.*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=)
16g.2088479C>GCA16615207TSC2c.*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
16g.2088479C>TCA493043675TSC2c.*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
16g.2088480_2088482dupCA2573151989TSC2c.*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
16g.2088480T>ACA394315290TSC2c.*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)
16g.2088480T>CCA394315295TSC2c.*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
16g.2088480T>GCA394315297TSC2c.*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)
16g.2088481A>CCA493043676TSC2c.*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
16g.2088481A>GCA493043678TSC2c.*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
16g.2088481A>TCA493043680TSC2c.*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=)
16g.2088481_2088483dupCA2631119456TSC2c.*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
16g.2088482C>ACA394315303TSC2c.*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)
16g.2088482C=CA2202033581TSC2c.*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=)
16g.2088482C>GCA394315305TSC2c.*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)
16g.2088482C>TCA054989TSC2c.*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
16g.2088483C>ACA394315314TSC2c.*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)
16g.2088483C=CA2202033587TSC2c.*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=)
16g.2088483C>GCA054992TSC2c.*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
16g.2088483C>TCA276759930TSC2c.*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
16g.2088484T>ACA493043681TSC2c.*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
16g.2088484T>CCA493043682TSC2c.*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
16g.2088484T>GCA493043683TSC2c.*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=)
16g.2088485C>ACA276759934TSC2c.*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
16g.2088485C=CA2202033599TSC2c.*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=)
16g.2088485C>GCA054998TSC2c.*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
16g.2088485C>TCA276759940TSC2c.*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
16g.2088486T>ACA394315331TSC2c.*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
16g.2088486T>CCA394315348TSC2c.*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)
16g.2088486T>GCA394315336TSC2c.*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)
16g.2088487G>ACA493043685TSC2c.*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
16g.2088487G>CCA10637336TSC2c.*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
16g.2088487G=CA2202033605TSC2c.*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=)
16g.2088487G>TCA493043686TSC2c.*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=)
16g.2088488G>ACA394315354TSC2c.*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
16g.2088488G>CCA394315356TSC2c.*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
16g.2088488G>TCA394315357TSC2c.*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
16g.2088489T>ACA394315363TSC2c.*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
16g.2088489T>CCA394315367TSC2c.*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
16g.2088489T>GCA394315371TSC2c.*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)
16g.2088489T=CA2202033610TSC2c.*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=)
16g.2088490G>ACA493043687TSC2c.*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
16g.2088490G>CCA493043688TSC2c.*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=)
16g.2088490G=CA2202033617TSC2c.*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=)
16g.2088490G>TCA493043689TSC2c.*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=)
16g.2088491C>ACA394315375TSC2c.*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)
16g.2088491C=CA2202033623TSC2c.*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=)
16g.2088491C>GCA394315379TSC2c.*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)
16g.2088491C>TCA394315380TSC2c.*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
16g.2088492A=CA2202033632TSC2c.*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=)
16g.2088492A>CCA394315384TSC2c.*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)
16g.2088492A>GCA394315386TSC2c.*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
16g.2088492A>TCA394315381TSC2c.*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)
16g.2088493C>ACA394315387TSC2c.*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
16g.2088493C=CA2202033643TSC2c.*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=)
16g.2088493C>GCA394315391TSC2c.*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
16g.2088493C>TCA055008TSC2c.*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
16g.2088494C>ACA394315399TSC2c.*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)
16g.2088494C=CA2202033648TSC2c.*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=)
16g.2088494C>GCA394315402TSC2c.*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)
16g.2088494C>TCA055015TSC2c.*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
16g.2088495C>ACA394315405TSC2c.*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
16g.2088495C=CA2202033657TSC2c.*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=)
16g.2088495C>GCA055029TSC2c.*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
16g.2088495C>TCA394315411TSC2c.*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
16g.2088496T>ACA493043692TSC2c.*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
16g.2088496T>CCA493043694TSC2c.*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=)
16g.2088496T>GCA493043693TSC2c.*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=)
16g.2088497C>ACA394315421TSC2c.*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
16g.2088497C=CA2202033696TSC2c.*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=)
16g.2088497C>GCA055040TSC2c.*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
16g.2088497C>TCA394315429TSC2c.*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
16g.2088498C>ACA394315432TSC2c.*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
16g.2088498C=CA2202033710TSC2c.*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=)
16g.2088498C>GCA394315434TSC2c.*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
16g.2088498C>TCA022380TSC2c.*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
16g.2088499G>ACA055071TSC2c.*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
16g.2088499G>CCA493043697TSC2c.*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
16g.2088499G=CA2202033717TSC2c.*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=)
16g.2088499G>TCA493043698TSC2c.*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=)
16g.2088500T>ACA394315440TSC2c.*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)
16g.2088500T>CCA394315443TSC2c.*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)
16g.2088500T>GCA16615050TSC2c.*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
16g.2088500T=CA2202033731TSC2c.*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=)
16g.2088501C>ACA394315454TSC2c.*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)
16g.2088501C>GCA394315452TSC2c.*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
16g.2088501C>TCA394315451TSC2c.*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
16g.2088502C>ACA493043701TSC2c.*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=)
16g.2088502C>GCA493043702TSC2c.*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
16g.2088502C>TCA493043703TSC2c.*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
16g.2088503C>ACA394315458TSC2c.*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
16g.2088503C=CA2202033754TSC2c.*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=)
16g.2088503C>GCA394315463TSC2c.*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
16g.2088503C>TCA276759978TSC2c.*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
16g.2088503_2088504insTTTTTTTTTTAATGCA2805573957TSC2c.*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?)
16g.2088504A=CA2202033768TSC2c.*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=)
16g.2088504A>CCA022386TSC2c.*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
16g.2088504A>GCA10583346TSC2c.*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
16g.2088504A>TCA394315477TSC2c.*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
16g.2088505T>ACA394315491TSC2c.*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
16g.2088505T>CCA055081TSC2c.*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
16g.2088505T>GCA394315481TSC2c.*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)
16g.2088505T=CA2202033777TSC2c.*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=)
16g.2088505_2088512delinsTAGCAAAGCA2202033780TSC2c.*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=)
16g.2088506A=CA2202033792TSC2c.*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=)
16g.2088506A>CCA394315492TSC2c.*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
16g.2088506A>GCA055089TSC2c.*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
16g.2088506A>TCA394315493TSC2c.*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)
16g.2088506_2088512delCA916081803TSC2c.*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
16g.2088507G>ACA394315498TSC2c.*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
16g.2088507G>CCA022390TSC2c.*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
16g.2088507G=CA2202033797TSC2c.*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=)
16g.2088507G>TCA394315512TSC2c.*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
16g.2088507_2088515delCA2631119489TSC2c.*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
16g.2088507_2088508insTTTTTCA2631119492TSC2c.*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
16g.2088508C>ACA394315517TSC2c.*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)
16g.2088508C=CA2202033806TSC2c.*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=)
16g.2088508C>GCA055113TSC2c.*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
16g.2088508C>TCA493043707TSC2c.*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
16g.2088509A=CA2202033815TSC2c.*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=)
16g.2088509A>CCA394315518TSC2c.*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)
16g.2088509A>GCA394315520TSC2c.*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)
16g.2088509A>TCA394315526TSC2c.*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
16g.2088510_2088511dupCA2573054168TSC2c.*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
16g.2088510A>CCA394315531TSC2c.*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)
16g.2088510A>GCA394315533TSC2c.*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)
16g.2088510A>TCA394315535TSC2c.*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)
16g.2088511A>CCA394315540TSC2c.*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
16g.2088511A>GCA493043708TSC2c.*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=)
16g.2088511A>TCA394315538TSC2c.*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
16g.2088511_2088516delCA2631119494TSC2c.*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
16g.2088512G>ACA394315543TSC2c.*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)
16g.2088512G>CCA394315545TSC2c.*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
16g.2088512G>TCA394315549TSC2c.*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
16g.2088512_2088513delinsGCCA2202033824TSC2c.*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=)
16g.2088512_2088513delinsTTCA1139664257TSC2c.*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
16g.2088513C>ACA394315559TSC2c.*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)
16g.2088513C=CA2202033839TSC2c.*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=)
16g.2088513C>GCA394315567TSC2c.*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
16g.2088513C>TCA394315581TSC2c.*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
16g.2088516dupCA913188681TSC2c.*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)
16g.2088514C>ACA493043709TSC2c.*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
16g.2088514C=CA2202033852TSC2c.*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=)
16g.2088514C>GCA493043710TSC2c.*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
16g.2088514C>TCA055117TSC2c.*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
16g.2088515C>ACA394315595TSC2c.*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)
16g.2088515C=CA2202033865TSC2c.*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=)
16g.2088515C>GCA10579908TSC2c.*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
16g.2088515C>TCA055123TSC2c.*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
16g.2088516_2088525delCA2573151990TSC2c.*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
16g.2088516C>ACA394315601TSC2c.*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
16g.2088516C=CA2202033872TSC2c.*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=)
16g.2088516C>GCA394315604TSC2c.*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
16g.2088516C>TCA394315607TSC2c.*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
16g.2088517T>ACA493043711TSC2c.*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=)
16g.2088517T>CCA022397TSC2c.*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
16g.2088517T>GCA493043712TSC2c.*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
16g.2088517T=CA2202033880TSC2c.*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=)
16g.2088518G>ACA16622078TSC2c.*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
16g.2088518G>CCA394315612TSC2c.*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
16g.2088518G=CA2202033887TSC2c.*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=)
16g.2088518G>TCA394315614TSC2c.*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)
16g.2088519delCA620705132TSC2c.*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
16g.2088519C>ACA055137TSC2c.*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
16g.2088519C=CA2202033911TSC2c.*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=)
16g.2088519C>GCA394315619TSC2c.*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
16g.2088519C>TCA394315621TSC2c.*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
16g.2088521_2088522delCA2580612724TSC2c.*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
16g.2088520A=CA2202033920TSC2c.*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=)
16g.2088520A>CCA493043713TSC2c.*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
16g.2088520A>GCA055142TSC2c.*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
16g.2088520A>TCA493043714TSC2c.*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=)
16g.2088520_2088522delCA2631119509TSC2c.*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
16g.2088521C>ACA394315628TSC2c.*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
16g.2088521C=CA2202033941TSC2c.*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=)
16g.2088521C>GCA394315631TSC2c.*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
16g.2088521C>TCA394315634TSC2c.*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
16g.2088522A=CA2202033952TSC2c.*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=)
16g.2088522A>CCA394315640TSC2c.*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)
16g.2088522A>GCA055149TSC2c.*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
16g.2088522A>TCA394315639TSC2c.*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)
16g.2088522_2088523insCGGCCA620705133TSC2c.*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
16g.2088523G>ACA276760043TSC2c.*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
16g.2088523G>CCA055156TSC2c.*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
16g.2088523G=CA2202033968TSC2c.*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=)
16g.2088523G>TCA394315644TSC2c.*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)
16g.2088524A=CA2202033981TSC2c.*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=)
16g.2088524A>CCA276760048TSC2c.*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
16g.2088524A>GCA394315648TSC2c.*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
16g.2088524A>TCA394315653TSC2c.*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)
16g.2088524_2088526delinsACTCA2202033986TSC2c.*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=)
16g.2088526_2088540dupCA2580091203TSC2c.*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
16g.2088525C>ACA394315654TSC2c.*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)
16g.2088525C=CA2202033997TSC2c.*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=)
16g.2088525C>GCA394315669TSC2c.*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)
16g.2088525C>TCA055164TSC2c.*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
16g.2088526_2088527delCA620705134TSC2c.*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
16g.2088525_2088557delinsCTCCAGCCGAGCCCACACCTGGCTATGAGGTGGCA2202033996TSC2c.*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=)
16g.2088526T>ACA493043715TSC2c.*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
16g.2088526T>CCA493043716TSC2c.*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
16g.2088526T>GCA493043717TSC2c.*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
16g.2088526T=CA2202034009TSC2c.*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=)
16g.2088526_2088557delCA022400TSC2c.*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
16g.2088527C>ACA394315676TSC2c.*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
16g.2088527C=CA2202034016TSC2c.*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=)
16g.2088527C>GCA394315679TSC2c.*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
16g.2088527C>TCA394315682TSC2c.*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)
16g.2088528C>ACA394315685TSC2c.*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)
16g.2088528C=CA2202034022TSC2c.*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=)
16g.2088528C>GCA394315686TSC2c.*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)
16g.2088528C>TCA10583347TSC2c.*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
16g.2088529A=CA2202034024TSC2c.*3692A= (n.*3692A=)
c.5190A= (p.Pro1730=)
c.5340A= (p.Pro1780=)
c.*5856A= (n.*5856A=)
c.*8092A= (n.*8092A=)
c.5343A= (p.Pro1781=)
c.5274A= (p.Pro1758=)
c.5142A= (p.Pro1714=)
c.5175A= (p.Pro1725=)
c.1566A=
n.3225A=
c.3997A=
c.5202A= (p.Pro1734=)
n.940A=
c.5145A= (p.Pro1715=)
c.5211A= (p.Pro1737=)
c.5136A= (p.Pro1712=)
n.2991A=
c.5268A= (p.Pro1756=)
c.5214A= (p.Pro1738=)
c.5229A= (p.Pro1743=)
c.5139A= (p.Pro1713=)
c.5264A=
n.3427A=
c.5337A= (p.Pro1779=)
n.4158A=
n.2595A=
n.2566A=
n.2456A=
c.4998A= (p.Pro1666=)
c.*4510A= (n.*4510A=)
c.5034A= (p.Pro1678=)
n.3066A=
c.1525A=
n.2458A=
c.5397A= (p.Pro1799=)
c.5394A= (p.Pro1798=)
c.5286A= (p.Pro1762=)
c.5265A= (p.Pro1755=)
c.4611A= (p.Pro1537=)
c.5559A= (p.Pro1853=)
c.5307A= (p.Pro1769=)
c.4053A= (p.Pro1351=)
16g.2088529A>CCA493043718TSC2c.*3692A>C (n.*3692A>C)
c.5190A>C (p.Pro1730=)
c.5340A>C (p.Pro1780=)
c.*5856A>C (n.*5856A>C)
c.*8092A>C (n.*8092A>C)
c.5343A>C (p.Pro1781=)
c.5274A>C (p.Pro1758=)
c.5142A>C (p.Pro1714=)
c.5175A>C (p.Pro1725=)
c.1566A>C
n.3225A>C
c.3997A>C
c.5202A>C (p.Pro1734=)
n.940A>C
c.5145A>C (p.Pro1715=)
c.5211A>C (p.Pro1737=)
c.5136A>C (p.Pro1712=)
n.2991A>C
c.5268A>C (p.Pro1756=)
c.5214A>C (p.Pro1738=)
c.5229A>C (p.Pro1743=)
c.5139A>C (p.Pro1713=)
c.5264A>C
n.3427A>C
c.5337A>C (p.Pro1779=)
n.4158A>C
n.2595A>C
n.2566A>C
n.2456A>C
c.4998A>C (p.Pro1666=)
c.*4510A>C (n.*4510A>C)
c.5034A>C (p.Pro1678=)
n.3066A>C
c.1525A>C
n.2458A>C
c.5397A>C (p.Pro1799=)
c.5394A>C (p.Pro1798=)
c.5286A>C (p.Pro1762=)
c.5265A>C (p.Pro1755=)
c.4611A>C (p.Pro1537=)
c.5559A>C (p.Pro1853=)
c.5307A>C (p.Pro1769=)
c.4053A>C (p.Pro1351=)
 ClinVar
16g.2088529A>GCA055170TSC2c.*3692A>G (n.*3692A>G)
c.5190A>G (p.Pro1730=)
c.5340A>G (p.Pro1780=)
c.*5856A>G (n.*5856A>G)
c.*8092A>G (n.*8092A>G)
c.5343A>G (p.Pro1781=)
c.5274A>G (p.Pro1758=)
c.5142A>G (p.Pro1714=)
c.5175A>G (p.Pro1725=)
c.1566A>G
n.3225A>G
c.3997A>G
c.5202A>G (p.Pro1734=)
n.940A>G
c.5145A>G (p.Pro1715=)
c.5211A>G (p.Pro1737=)
c.5136A>G (p.Pro1712=)
n.2991A>G
c.5268A>G (p.Pro1756=)
c.5214A>G (p.Pro1738=)
c.5229A>G (p.Pro1743=)
c.5139A>G (p.Pro1713=)
c.5264A>G
n.3427A>G
c.5337A>G (p.Pro1779=)
n.4158A>G
n.2595A>G
n.2566A>G
n.2456A>G
c.4998A>G (p.Pro1666=)
c.*4510A>G (n.*4510A>G)
c.5034A>G (p.Pro1678=)
n.3066A>G
c.1525A>G
n.2458A>G
c.5397A>G (p.Pro1799=)
c.5394A>G (p.Pro1798=)
c.5286A>G (p.Pro1762=)
c.5265A>G (p.Pro1755=)
c.4611A>G (p.Pro1537=)
c.5559A>G (p.Pro1853=)
c.5307A>G (p.Pro1769=)
c.4053A>G (p.Pro1351=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088529A>TCA493043719TSC2c.*3692A>T (n.*3692A>T)
c.5190A>T (p.Pro1730=)
c.5340A>T (p.Pro1780=)
c.*5856A>T (n.*5856A>T)
c.*8092A>T (n.*8092A>T)
c.5343A>T (p.Pro1781=)
c.5274A>T (p.Pro1758=)
c.5142A>T (p.Pro1714=)
c.5175A>T (p.Pro1725=)
c.1566A>T
n.3225A>T
c.3997A>T
c.5202A>T (p.Pro1734=)
n.940A>T
c.5145A>T (p.Pro1715=)
c.5211A>T (p.Pro1737=)
c.5136A>T (p.Pro1712=)
n.2991A>T
c.5268A>T (p.Pro1756=)
c.5214A>T (p.Pro1738=)
c.5229A>T (p.Pro1743=)
c.5139A>T (p.Pro1713=)
c.5264A>T
n.3427A>T
c.5337A>T (p.Pro1779=)
n.4158A>T
n.2595A>T
n.2566A>T
n.2456A>T
c.4998A>T (p.Pro1666=)
c.*4510A>T (n.*4510A>T)
c.5034A>T (p.Pro1678=)
n.3066A>T
c.1525A>T
n.2458A>T
c.5397A>T (p.Pro1799=)
c.5394A>T (p.Pro1798=)
c.5286A>T (p.Pro1762=)
c.5265A>T (p.Pro1755=)
c.4611A>T (p.Pro1537=)
c.5559A>T (p.Pro1853=)
c.5307A>T (p.Pro1769=)
c.4053A>T (p.Pro1351=)
 dbSNP
16g.2088530delCA620705135TSC2c.*3693del (n.*3693del)
c.5191del (p.Ala1731ProfsTer?)
c.5341del (p.Ala1781ProfsTer?)
c.*5857del (n.*5857del)
c.*8093del (n.*8093del)
c.5344del (p.Ala1782ProfsTer?)
c.5275del (p.Ala1759ProfsTer?)
c.5143del (p.Ala1715ProfsTer?)
c.5176del (p.Ala1726ProfsTer?)
c.1567del
n.3226del
c.3998del
c.5203del (p.Ala1735ProfsTer?)
n.941del
c.5146del (p.Ala1716ProfsTer?)
c.5212del (p.Ala1738ProfsTer?)
c.5137del (p.Ala1713ProfsTer?)
n.2992del
c.5269del (p.Ala1757ProfsTer?)
c.5215del (p.Ala1739ProfsTer?)
c.5230del (p.Ala1744ProfsTer?)
c.5140del (p.Ala1714ProfsTer?)
c.5265del
n.3428del
c.5338del (p.Ala1780ProfsTer?)
n.4159del
n.2596del
n.2567del
n.2457del
c.4999del (p.Ala1667ProfsTer?)
c.*4511del (n.*4511del)
c.5035del (p.Ala1679ProfsTer?)
n.3067del
c.1526del
n.2459del
c.5398del (p.Ala1800ProfsTer?)
c.5395del (p.Ala1799ProfsTer?)
c.5287del (p.Ala1763ProfsTer?)
c.5266del (p.Ala1756ProfsTer?)
c.4612del (p.Ala1538ProfsTer?)
c.5560del (p.Ala1854ProfsTer?)
c.5308del (p.Ala1770ProfsTer?)
c.4054del (p.Ala1352ProfsTer?)
 gnomAD v2 gnomAD v4
16g.2088530G>ACA394315690TSC2c.*3693G>A (n.*3693G>A)
c.5191G>A (p.Ala1731Thr)
c.5341G>A (p.Ala1781Thr)
c.*5857G>A (n.*5857G>A)
c.*8093G>A (n.*8093G>A)
c.5344G>A (p.Ala1782Thr)
c.5275G>A (p.Ala1759Thr)
c.5143G>A (p.Ala1715Thr)
c.5176G>A (p.Ala1726Thr)
c.1567G>A
n.3226G>A
c.3998G>A
c.5203G>A (p.Ala1735Thr)
n.941G>A
c.5146G>A (p.Ala1716Thr)
c.5212G>A (p.Ala1738Thr)
c.5137G>A (p.Ala1713Thr)
n.2992G>A
c.5269G>A (p.Ala1757Thr)
c.5215G>A (p.Ala1739Thr)
c.5230G>A (p.Ala1744Thr)
c.5140G>A (p.Ala1714Thr)
c.5265G>A
n.3428G>A
c.5338G>A (p.Ala1780Thr)
n.4159G>A
n.2596G>A
n.2567G>A
n.2457G>A
c.4999G>A (p.Ala1667Thr)
c.*4511G>A (n.*4511G>A)
c.5035G>A (p.Ala1679Thr)
n.3067G>A
c.1526G>A
n.2459G>A
c.5398G>A (p.Ala1800Thr)
c.5395G>A (p.Ala1799Thr)
c.5287G>A (p.Ala1763Thr)
c.5266G>A (p.Ala1756Thr)
c.4612G>A (p.Ala1538Thr)
c.5560G>A (p.Ala1854Thr)
c.5308G>A (p.Ala1770Thr)
c.4054G>A (p.Ala1352Thr)
 ClinVar dbSNP
16g.2088530G>CCA394315694TSC2c.*3693G>C (n.*3693G>C)
c.5191G>C (p.Ala1731Pro)
c.5341G>C (p.Ala1781Pro)
c.*5857G>C (n.*5857G>C)
c.*8093G>C (n.*8093G>C)
c.5344G>C (p.Ala1782Pro)
c.5275G>C (p.Ala1759Pro)
c.5143G>C (p.Ala1715Pro)
c.5176G>C (p.Ala1726Pro)
c.1567G>C
n.3226G>C
c.3998G>C
c.5203G>C (p.Ala1735Pro)
n.941G>C
c.5146G>C (p.Ala1716Pro)
c.5212G>C (p.Ala1738Pro)
c.5137G>C (p.Ala1713Pro)
n.2992G>C
c.5269G>C (p.Ala1757Pro)
c.5215G>C (p.Ala1739Pro)
c.5230G>C (p.Ala1744Pro)
c.5140G>C (p.Ala1714Pro)
c.5265G>C
n.3428G>C
c.5338G>C (p.Ala1780Pro)
n.4159G>C
n.2596G>C
n.2567G>C
n.2457G>C
c.4999G>C (p.Ala1667Pro)
c.*4511G>C (n.*4511G>C)
c.5035G>C (p.Ala1679Pro)
n.3067G>C
c.1526G>C
n.2459G>C
c.5398G>C (p.Ala1800Pro)
c.5395G>C (p.Ala1799Pro)
c.5287G>C (p.Ala1763Pro)
c.5266G>C (p.Ala1756Pro)
c.4612G>C (p.Ala1538Pro)
c.5560G>C (p.Ala1854Pro)
c.5308G>C (p.Ala1770Pro)
c.4054G>C (p.Ala1352Pro)
 dbSNP gnomAD v4
16g.2088530G=CA2202034030TSC2c.*3693G= (n.*3693G=)
c.5191G= (p.Ala1731=)
c.5341G= (p.Ala1781=)
c.*5857G= (n.*5857G=)
c.*8093G= (n.*8093G=)
c.5344G= (p.Ala1782=)
c.5275G= (p.Ala1759=)
c.5143G= (p.Ala1715=)
c.5176G= (p.Ala1726=)
c.1567G=
n.3226G=
c.3998G=
c.5203G= (p.Ala1735=)
n.941G=
c.5146G= (p.Ala1716=)
c.5212G= (p.Ala1738=)
c.5137G= (p.Ala1713=)
n.2992G=
c.5269G= (p.Ala1757=)
c.5215G= (p.Ala1739=)
c.5230G= (p.Ala1744=)
c.5140G= (p.Ala1714=)
c.5265G=
n.3428G=
c.5338G= (p.Ala1780=)
n.4159G=
n.2596G=
n.2567G=
n.2457G=
c.4999G= (p.Ala1667=)
c.*4511G= (n.*4511G=)
c.5035G= (p.Ala1679=)
n.3067G=
c.1526G=
n.2459G=
c.5398G= (p.Ala1800=)
c.5395G= (p.Ala1799=)
c.5287G= (p.Ala1763=)
c.5266G= (p.Ala1756=)
c.4612G= (p.Ala1538=)
c.5560G= (p.Ala1854=)
c.5308G= (p.Ala1770=)
c.4054G= (p.Ala1352=)
16g.2088530G>TCA394315696TSC2c.*3693G>T (n.*3693G>T)
c.5191G>T (p.Ala1731Ser)
c.5341G>T (p.Ala1781Ser)
c.*5857G>T (n.*5857G>T)
c.*8093G>T (n.*8093G>T)
c.5344G>T (p.Ala1782Ser)
c.5275G>T (p.Ala1759Ser)
c.5143G>T (p.Ala1715Ser)
c.5176G>T (p.Ala1726Ser)
c.1567G>T
n.3226G>T
c.3998G>T
c.5203G>T (p.Ala1735Ser)
n.941G>T
c.5146G>T (p.Ala1716Ser)
c.5212G>T (p.Ala1738Ser)
c.5137G>T (p.Ala1713Ser)
n.2992G>T
c.5269G>T (p.Ala1757Ser)
c.5215G>T (p.Ala1739Ser)
c.5230G>T (p.Ala1744Ser)
c.5140G>T (p.Ala1714Ser)
c.5265G>T
n.3428G>T
c.5338G>T (p.Ala1780Ser)
n.4159G>T
n.2596G>T
n.2567G>T
n.2457G>T
c.4999G>T (p.Ala1667Ser)
c.*4511G>T (n.*4511G>T)
c.5035G>T (p.Ala1679Ser)
n.3067G>T
c.1526G>T
n.2459G>T
c.5398G>T (p.Ala1800Ser)
c.5395G>T (p.Ala1799Ser)
c.5287G>T (p.Ala1763Ser)
c.5266G>T (p.Ala1756Ser)
c.4612G>T (p.Ala1538Ser)
c.5560G>T (p.Ala1854Ser)
c.5308G>T (p.Ala1770Ser)
c.4054G>T (p.Ala1352Ser)
 ClinVar dbSNP gnomAD v4
16g.2088531C>ACA394315699TSC2c.*3694C>A (n.*3694C>A)
c.5192C>A (p.Ala1731Asp)
c.5342C>A (p.Ala1781Asp)
c.*5858C>A (n.*5858C>A)
c.*8094C>A (n.*8094C>A)
c.5345C>A (p.Ala1782Asp)
c.5276C>A (p.Ala1759Asp)
c.5144C>A (p.Ala1715Asp)
c.5177C>A (p.Ala1726Asp)
c.1568C>A
n.3227C>A
c.3999C>A
c.5204C>A (p.Ala1735Asp)
n.942C>A
c.5147C>A (p.Ala1716Asp)
c.5213C>A (p.Ala1738Asp)
c.5138C>A (p.Ala1713Asp)
n.2993C>A
c.5270C>A (p.Ala1757Asp)
c.5216C>A (p.Ala1739Asp)
c.5231C>A (p.Ala1744Asp)
c.5141C>A (p.Ala1714Asp)
c.5266C>A
n.3429C>A
c.5339C>A (p.Ala1780Asp)
n.4160C>A
n.2597C>A
n.2568C>A
n.2458C>A
c.5000C>A (p.Ala1667Asp)
c.*4512C>A (n.*4512C>A)
c.5036C>A (p.Ala1679Asp)
n.3068C>A
c.1527C>A
n.2460C>A
c.5399C>A (p.Ala1800Asp)
c.5396C>A (p.Ala1799Asp)
c.5288C>A (p.Ala1763Asp)
c.5267C>A (p.Ala1756Asp)
c.4613C>A (p.Ala1538Asp)
c.5561C>A (p.Ala1854Asp)
c.5309C>A (p.Ala1770Asp)
c.4055C>A (p.Ala1352Asp)
16g.2088531C=CA2202034043TSC2c.*3694C= (n.*3694C=)
c.5192C= (p.Ala1731=)
c.5342C= (p.Ala1781=)
c.*5858C= (n.*5858C=)
c.*8094C= (n.*8094C=)
c.5345C= (p.Ala1782=)
c.5276C= (p.Ala1759=)
c.5144C= (p.Ala1715=)
c.5177C= (p.Ala1726=)
c.1568C=
n.3227C=
c.3999C=
c.5204C= (p.Ala1735=)
n.942C=
c.5147C= (p.Ala1716=)
c.5213C= (p.Ala1738=)
c.5138C= (p.Ala1713=)
n.2993C=
c.5270C= (p.Ala1757=)
c.5216C= (p.Ala1739=)
c.5231C= (p.Ala1744=)
c.5141C= (p.Ala1714=)
c.5266C=
n.3429C=
c.5339C= (p.Ala1780=)
n.4160C=
n.2597C=
n.2568C=
n.2458C=
c.5000C= (p.Ala1667=)
c.*4512C= (n.*4512C=)
c.5036C= (p.Ala1679=)
n.3068C=
c.1527C=
n.2460C=
c.5399C= (p.Ala1800=)
c.5396C= (p.Ala1799=)
c.5288C= (p.Ala1763=)
c.5267C= (p.Ala1756=)
c.4613C= (p.Ala1538=)
c.5561C= (p.Ala1854=)
c.5309C= (p.Ala1770=)
c.4055C= (p.Ala1352=)
16g.2088531C>GCA394315705TSC2c.*3694C>G (n.*3694C>G)
c.5192C>G (p.Ala1731Gly)
c.5342C>G (p.Ala1781Gly)
c.*5858C>G (n.*5858C>G)
c.*8094C>G (n.*8094C>G)
c.5345C>G (p.Ala1782Gly)
c.5276C>G (p.Ala1759Gly)
c.5144C>G (p.Ala1715Gly)
c.5177C>G (p.Ala1726Gly)
c.1568C>G
n.3227C>G
c.3999C>G
c.5204C>G (p.Ala1735Gly)
n.942C>G
c.5147C>G (p.Ala1716Gly)
c.5213C>G (p.Ala1738Gly)
c.5138C>G (p.Ala1713Gly)
n.2993C>G
c.5270C>G (p.Ala1757Gly)
c.5216C>G (p.Ala1739Gly)
c.5231C>G (p.Ala1744Gly)
c.5141C>G (p.Ala1714Gly)
c.5266C>G
n.3429C>G
c.5339C>G (p.Ala1780Gly)
n.4160C>G
n.2597C>G
n.2568C>G
n.2458C>G
c.5000C>G (p.Ala1667Gly)
c.*4512C>G (n.*4512C>G)
c.5036C>G (p.Ala1679Gly)
n.3068C>G
c.1527C>G
n.2460C>G
c.5399C>G (p.Ala1800Gly)
c.5396C>G (p.Ala1799Gly)
c.5288C>G (p.Ala1763Gly)
c.5267C>G (p.Ala1756Gly)
c.4613C>G (p.Ala1538Gly)
c.5561C>G (p.Ala1854Gly)
c.5309C>G (p.Ala1770Gly)
c.4055C>G (p.Ala1352Gly)
 ClinVar dbSNP
16g.2088531C>TCA394315700TSC2c.*3694C>T (n.*3694C>T)
c.5192C>T (p.Ala1731Val)
c.5342C>T (p.Ala1781Val)
c.*5858C>T (n.*5858C>T)
c.*8094C>T (n.*8094C>T)
c.5345C>T (p.Ala1782Val)
c.5276C>T (p.Ala1759Val)
c.5144C>T (p.Ala1715Val)
c.5177C>T (p.Ala1726Val)
c.1568C>T
n.3227C>T
c.3999C>T
c.5204C>T (p.Ala1735Val)
n.942C>T
c.5147C>T (p.Ala1716Val)
c.5213C>T (p.Ala1738Val)
c.5138C>T (p.Ala1713Val)
n.2993C>T
c.5270C>T (p.Ala1757Val)
c.5216C>T (p.Ala1739Val)
c.5231C>T (p.Ala1744Val)
c.5141C>T (p.Ala1714Val)
c.5266C>T
n.3429C>T
c.5339C>T (p.Ala1780Val)
n.4160C>T
n.2597C>T
n.2568C>T
n.2458C>T
c.5000C>T (p.Ala1667Val)
c.*4512C>T (n.*4512C>T)
c.5036C>T (p.Ala1679Val)
n.3068C>T
c.1527C>T
n.2460C>T
c.5399C>T (p.Ala1800Val)
c.5396C>T (p.Ala1799Val)
c.5288C>T (p.Ala1763Val)
c.5267C>T (p.Ala1756Val)
c.4613C>T (p.Ala1538Val)
c.5561C>T (p.Ala1854Val)
c.5309C>T (p.Ala1770Val)
c.4055C>T (p.Ala1352Val)
 ClinVar dbSNP COSMIC COSMIC
16g.2088532C>ACA493043720TSC2c.*3695C>A (n.*3695C>A)
c.5193C>A (p.Ala1731=)
c.5343C>A (p.Ala1781=)
c.*5859C>A (n.*5859C>A)
c.*8095C>A (n.*8095C>A)
c.5346C>A (p.Ala1782=)
c.5277C>A (p.Ala1759=)
c.5145C>A (p.Ala1715=)
c.5178C>A (p.Ala1726=)
c.1569C>A
n.3228C>A
c.4000C>A
c.5205C>A (p.Ala1735=)
n.943C>A
c.5148C>A (p.Ala1716=)
c.5214C>A (p.Ala1738=)
c.5139C>A (p.Ala1713=)
n.2994C>A
c.5271C>A (p.Ala1757=)
c.5217C>A (p.Ala1739=)
c.5232C>A (p.Ala1744=)
c.5142C>A (p.Ala1714=)
c.5267C>A
n.3430C>A
c.5340C>A (p.Ala1780=)
n.4161C>A
n.2598C>A
n.2569C>A
n.2459C>A
c.5001C>A (p.Ala1667=)
c.*4513C>A (n.*4513C>A)
c.5037C>A (p.Ala1679=)
n.3069C>A
c.1528C>A
n.2461C>A
c.5400C>A (p.Ala1800=)
c.5397C>A (p.Ala1799=)
c.5289C>A (p.Ala1763=)
c.5268C>A (p.Ala1756=)
c.4614C>A (p.Ala1538=)
c.5562C>A (p.Ala1854=)
c.5310C>A (p.Ala1770=)
c.4056C>A (p.Ala1352=)
 ClinVar dbSNP gnomAD v4
16g.2088532C=CA2202034051TSC2c.*3695C= (n.*3695C=)
c.5193C= (p.Ala1731=)
c.5343C= (p.Ala1781=)
c.*5859C= (n.*5859C=)
c.*8095C= (n.*8095C=)
c.5346C= (p.Ala1782=)
c.5277C= (p.Ala1759=)
c.5145C= (p.Ala1715=)
c.5178C= (p.Ala1726=)
c.1569C=
n.3228C=
c.4000C=
c.5205C= (p.Ala1735=)
n.943C=
c.5148C= (p.Ala1716=)
c.5214C= (p.Ala1738=)
c.5139C= (p.Ala1713=)
n.2994C=
c.5271C= (p.Ala1757=)
c.5217C= (p.Ala1739=)
c.5232C= (p.Ala1744=)
c.5142C= (p.Ala1714=)
c.5267C=
n.3430C=
c.5340C= (p.Ala1780=)
n.4161C=
n.2598C=
n.2569C=
n.2459C=
c.5001C= (p.Ala1667=)
c.*4513C= (n.*4513C=)
c.5037C= (p.Ala1679=)
n.3069C=
c.1528C=
n.2461C=
c.5400C= (p.Ala1800=)
c.5397C= (p.Ala1799=)
c.5289C= (p.Ala1763=)
c.5268C= (p.Ala1756=)
c.4614C= (p.Ala1538=)
c.5562C= (p.Ala1854=)
c.5310C= (p.Ala1770=)
c.4056C= (p.Ala1352=)
16g.2088532C>GCA493043721TSC2c.*3695C>G (n.*3695C>G)
c.5193C>G (p.Ala1731=)
c.5343C>G (p.Ala1781=)
c.*5859C>G (n.*5859C>G)
c.*8095C>G (n.*8095C>G)
c.5346C>G (p.Ala1782=)
c.5277C>G (p.Ala1759=)
c.5145C>G (p.Ala1715=)
c.5178C>G (p.Ala1726=)
c.1569C>G
n.3228C>G
c.4000C>G
c.5205C>G (p.Ala1735=)
n.943C>G
c.5148C>G (p.Ala1716=)
c.5214C>G (p.Ala1738=)
c.5139C>G (p.Ala1713=)
n.2994C>G
c.5271C>G (p.Ala1757=)
c.5217C>G (p.Ala1739=)
c.5232C>G (p.Ala1744=)
c.5142C>G (p.Ala1714=)
c.5267C>G
n.3430C>G
c.5340C>G (p.Ala1780=)
n.4161C>G
n.2598C>G
n.2569C>G
n.2459C>G
c.5001C>G (p.Ala1667=)
c.*4513C>G (n.*4513C>G)
c.5037C>G (p.Ala1679=)
n.3069C>G
c.1528C>G
n.2461C>G
c.5400C>G (p.Ala1800=)
c.5397C>G (p.Ala1799=)
c.5289C>G (p.Ala1763=)
c.5268C>G (p.Ala1756=)
c.4614C>G (p.Ala1538=)
c.5562C>G (p.Ala1854=)
c.5310C>G (p.Ala1770=)
c.4056C>G (p.Ala1352=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088532C>TCA055178TSC2c.*3695C>T (n.*3695C>T)
c.5193C>T (p.Ala1731=)
c.5343C>T (p.Ala1781=)
c.*5859C>T (n.*5859C>T)
c.*8095C>T (n.*8095C>T)
c.5346C>T (p.Ala1782=)
c.5277C>T (p.Ala1759=)
c.5145C>T (p.Ala1715=)
c.5178C>T (p.Ala1726=)
c.1569C>T
n.3228C>T
c.4000C>T
c.5205C>T (p.Ala1735=)
n.943C>T
c.5148C>T (p.Ala1716=)
c.5214C>T (p.Ala1738=)
c.5139C>T (p.Ala1713=)
n.2994C>T
c.5271C>T (p.Ala1757=)
c.5217C>T (p.Ala1739=)
c.5232C>T (p.Ala1744=)
c.5142C>T (p.Ala1714=)
c.5267C>T
n.3430C>T
c.5340C>T (p.Ala1780=)
n.4161C>T
n.2598C>T
n.2569C>T
n.2459C>T
c.5001C>T (p.Ala1667=)
c.*4513C>T (n.*4513C>T)
c.5037C>T (p.Ala1679=)
n.3069C>T
c.1528C>T
n.2461C>T
c.5400C>T (p.Ala1800=)
c.5397C>T (p.Ala1799=)
c.5289C>T (p.Ala1763=)
c.5268C>T (p.Ala1756=)
c.4614C>T (p.Ala1538=)
c.5562C>T (p.Ala1854=)
c.5310C>T (p.Ala1770=)
c.4056C>T (p.Ala1352=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC

Number of alleles fetched