Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2087984_2088059del | CA2580091140 | TSC2 | c.*3417+43_*3429del c.4915+43_4927del c.5065+43_5077del c.*5581+43_*5593del c.*7817+43_*7829del c.5068+43_5080del c.4999+43_5011del c.4867+43_4879del c.4900+43_4912del c.1291+43_1303del n.2950+43_2962del c.3722+43_3734del c.4939+43_4951del n.665+43_677del c.4870+43_4882del c.4936+43_4948del c.4861+43_4873del n.2716+43_2728del c.4993+43_5005del c.4864+43_4876del c.4989+43_5001del n.3152+43_3164del c.5062+43_5074del n.3883+43_3895del n.2320+43_2332del n.2291+43_2303del n.2181+43_2193del c.4723+43_4735del c.*4235+43_*4247del c.4759+43_4771del n.2791+43_2803del c.1250+43_1262del n.2183+43_2195del c.5122+43_5134del c.5119+43_5131del c.5011+43_5023del c.4990+43_5002del c.4336+43_4348del c.5284+43_5296del c.5032+43_5044del c.3778+43_3790del | ClinVar |
16 | g.2088045del | CA2631117864 | TSC2 | c.*3418-3del (n.*3418-3del) c.4916-3del (n.4916-3del) c.5066-3del (n.5066-3del) c.*5582-3del (n.*5582-3del) c.*7818-3del (n.*7818-3del) c.5069-3del (n.5069-3del) c.5000-3del (n.5000-3del) c.4868-3del (n.4868-3del) c.4901-3del (n.4901-3del) c.1292-3del n.2951-3del c.3723-3del c.4940-3del (n.4940-3del) n.666-3del c.4871-3del (n.4871-3del) c.4937-3del (n.4937-3del) c.4862-3del (n.4862-3del) n.2717-3del c.4994-3del (n.4994-3del) c.4865-3del (n.4865-3del) c.4990-3del n.3153-3del c.5063-3del (n.5063-3del) n.3884-3del n.2321-3del n.2292-3del n.2182-3del c.4724-3del (n.4724-3del) c.*4236-3del (n.*4236-3del) c.4760-3del (n.4760-3del) n.2792-3del c.1251-3del n.2184-3del c.5123-3del (n.5123-3del) c.5120-3del (n.5120-3del) c.5012-3del (n.5012-3del) c.4991-3del (n.4991-3del) c.4337-3del (n.4337-3del) c.5285-3del (n.5285-3del) c.5033-3del (n.5033-3del) c.3779-3del (n.3779-3del) | gnomAD v4 |
16 | g.2088043C= | CA2202030183 | TSC2 | c.*3418-5C= (n.*3418-5C=) c.4916-5C= (n.4916-5C=) c.5066-5C= (n.5066-5C=) c.*5582-5C= (n.*5582-5C=) c.*7818-5C= (n.*7818-5C=) c.5069-5C= (n.5069-5C=) c.5000-5C= (n.5000-5C=) c.4868-5C= (n.4868-5C=) c.4901-5C= (n.4901-5C=) c.1292-5C= n.2951-5C= c.3723-5C= c.4940-5C= (n.4940-5C=) n.666-5C= c.4871-5C= (n.4871-5C=) c.4937-5C= (n.4937-5C=) c.4862-5C= (n.4862-5C=) n.2717-5C= c.4994-5C= (n.4994-5C=) c.4865-5C= (n.4865-5C=) c.4990-5C= n.3153-5C= c.5063-5C= (n.5063-5C=) n.3884-5C= n.2321-5C= n.2292-5C= n.2182-5C= c.4724-5C= (n.4724-5C=) c.*4236-5C= (n.*4236-5C=) c.4760-5C= (n.4760-5C=) n.2792-5C= c.1251-5C= n.2184-5C= c.5123-5C= (n.5123-5C=) c.5120-5C= (n.5120-5C=) c.5012-5C= (n.5012-5C=) c.4991-5C= (n.4991-5C=) c.4337-5C= (n.4337-5C=) c.5285-5C= (n.5285-5C=) c.5033-5C= (n.5033-5C=) c.3779-5C= (n.3779-5C=) | |
16 | g.2088043C>G | CA2838032782 | TSC2 | c.*3418-5C>G (n.*3418-5C>G) c.4916-5C>G (n.4916-5C>G) c.5066-5C>G (n.5066-5C>G) c.*5582-5C>G (n.*5582-5C>G) c.*7818-5C>G (n.*7818-5C>G) c.5069-5C>G (n.5069-5C>G) c.5000-5C>G (n.5000-5C>G) c.4868-5C>G (n.4868-5C>G) c.4901-5C>G (n.4901-5C>G) c.1292-5C>G n.2951-5C>G c.3723-5C>G c.4940-5C>G (n.4940-5C>G) n.666-5C>G c.4871-5C>G (n.4871-5C>G) c.4937-5C>G (n.4937-5C>G) c.4862-5C>G (n.4862-5C>G) n.2717-5C>G c.4994-5C>G (n.4994-5C>G) c.4865-5C>G (n.4865-5C>G) c.4990-5C>G n.3153-5C>G c.5063-5C>G (n.5063-5C>G) n.3884-5C>G n.2321-5C>G n.2292-5C>G n.2182-5C>G c.4724-5C>G (n.4724-5C>G) c.*4236-5C>G (n.*4236-5C>G) c.4760-5C>G (n.4760-5C>G) n.2792-5C>G c.1251-5C>G n.2184-5C>G c.5123-5C>G (n.5123-5C>G) c.5120-5C>G (n.5120-5C>G) c.5012-5C>G (n.5012-5C>G) c.4991-5C>G (n.4991-5C>G) c.4337-5C>G (n.4337-5C>G) c.5285-5C>G (n.5285-5C>G) c.5033-5C>G (n.5033-5C>G) c.3779-5C>G (n.3779-5C>G) | |
16 | g.2088043C>T | CA053871 | TSC2 | c.*3418-5C>T (n.*3418-5C>T) c.4916-5C>T (n.4916-5C>T) c.5066-5C>T (n.5066-5C>T) c.*5582-5C>T (n.*5582-5C>T) c.*7818-5C>T (n.*7818-5C>T) c.5069-5C>T (n.5069-5C>T) c.5000-5C>T (n.5000-5C>T) c.4868-5C>T (n.4868-5C>T) c.4901-5C>T (n.4901-5C>T) c.1292-5C>T n.2951-5C>T c.3723-5C>T c.4940-5C>T (n.4940-5C>T) n.666-5C>T c.4871-5C>T (n.4871-5C>T) c.4937-5C>T (n.4937-5C>T) c.4862-5C>T (n.4862-5C>T) n.2717-5C>T c.4994-5C>T (n.4994-5C>T) c.4865-5C>T (n.4865-5C>T) c.4990-5C>T n.3153-5C>T c.5063-5C>T (n.5063-5C>T) n.3884-5C>T n.2321-5C>T n.2292-5C>T n.2182-5C>T c.4724-5C>T (n.4724-5C>T) c.*4236-5C>T (n.*4236-5C>T) c.4760-5C>T (n.4760-5C>T) n.2792-5C>T c.1251-5C>T n.2184-5C>T c.5123-5C>T (n.5123-5C>T) c.5120-5C>T (n.5120-5C>T) c.5012-5C>T (n.5012-5C>T) c.4991-5C>T (n.4991-5C>T) c.4337-5C>T (n.4337-5C>T) c.5285-5C>T (n.5285-5C>T) c.5033-5C>T (n.5033-5C>T) c.3779-5C>T (n.3779-5C>T) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.2088044C= | CA2202030193 | TSC2 | c.*3418-4C= (n.*3418-4C=) c.4916-4C= (n.4916-4C=) c.5066-4C= (n.5066-4C=) c.*5582-4C= (n.*5582-4C=) c.*7818-4C= (n.*7818-4C=) c.5069-4C= (n.5069-4C=) c.5000-4C= (n.5000-4C=) c.4868-4C= (n.4868-4C=) c.4901-4C= (n.4901-4C=) c.1292-4C= n.2951-4C= c.3723-4C= c.4940-4C= (n.4940-4C=) n.666-4C= c.4871-4C= (n.4871-4C=) c.4937-4C= (n.4937-4C=) c.4862-4C= (n.4862-4C=) n.2717-4C= c.4994-4C= (n.4994-4C=) c.4865-4C= (n.4865-4C=) c.4990-4C= n.3153-4C= c.5063-4C= (n.5063-4C=) n.3884-4C= n.2321-4C= n.2292-4C= n.2182-4C= c.4724-4C= (n.4724-4C=) c.*4236-4C= (n.*4236-4C=) c.4760-4C= (n.4760-4C=) n.2792-4C= c.1251-4C= n.2184-4C= c.5123-4C= (n.5123-4C=) c.5120-4C= (n.5120-4C=) c.5012-4C= (n.5012-4C=) c.4991-4C= (n.4991-4C=) c.4337-4C= (n.4337-4C=) c.5285-4C= (n.5285-4C=) c.5033-4C= (n.5033-4C=) c.3779-4C= (n.3779-4C=) | |
16 | g.2088044C>T | CA658656630 | TSC2 | c.*3418-4C>T (n.*3418-4C>T) c.4916-4C>T (n.4916-4C>T) c.5066-4C>T (n.5066-4C>T) c.*5582-4C>T (n.*5582-4C>T) c.*7818-4C>T (n.*7818-4C>T) c.5069-4C>T (n.5069-4C>T) c.5000-4C>T (n.5000-4C>T) c.4868-4C>T (n.4868-4C>T) c.4901-4C>T (n.4901-4C>T) c.1292-4C>T n.2951-4C>T c.3723-4C>T c.4940-4C>T (n.4940-4C>T) n.666-4C>T c.4871-4C>T (n.4871-4C>T) c.4937-4C>T (n.4937-4C>T) c.4862-4C>T (n.4862-4C>T) n.2717-4C>T c.4994-4C>T (n.4994-4C>T) c.4865-4C>T (n.4865-4C>T) c.4990-4C>T n.3153-4C>T c.5063-4C>T (n.5063-4C>T) n.3884-4C>T n.2321-4C>T n.2292-4C>T n.2182-4C>T c.4724-4C>T (n.4724-4C>T) c.*4236-4C>T (n.*4236-4C>T) c.4760-4C>T (n.4760-4C>T) n.2792-4C>T c.1251-4C>T n.2184-4C>T c.5123-4C>T (n.5123-4C>T) c.5120-4C>T (n.5120-4C>T) c.5012-4C>T (n.5012-4C>T) c.4991-4C>T (n.4991-4C>T) c.4337-4C>T (n.4337-4C>T) c.5285-4C>T (n.5285-4C>T) c.5033-4C>T (n.5033-4C>T) c.3779-4C>T (n.3779-4C>T) | ClinVar dbSNP gnomAD v4 |
16 | g.2088044_2088046delinsCCA | CA2202030188 | TSC2 | c.*3418-4_*3418-2delinsCCA (n.*3418-4_*3418-2delinsCCA) c.4916-4_4916-2delinsCCA (n.4916-4_4916-2delinsCCA) c.5066-4_5066-2delinsCCA (n.5066-4_5066-2delinsCCA) c.*5582-4_*5582-2delinsCCA (n.*5582-4_*5582-2delinsCCA) c.*7818-4_*7818-2delinsCCA (n.*7818-4_*7818-2delinsCCA) c.5069-4_5069-2delinsCCA (n.5069-4_5069-2delinsCCA) c.5000-4_5000-2delinsCCA (n.5000-4_5000-2delinsCCA) c.4868-4_4868-2delinsCCA (n.4868-4_4868-2delinsCCA) c.4901-4_4901-2delinsCCA (n.4901-4_4901-2delinsCCA) c.1292-4_1292-2delinsCCA n.2951-4_2951-2delinsCCA c.3723-4_3723-2delinsCCA c.4940-4_4940-2delinsCCA (n.4940-4_4940-2delinsCCA) n.666-4_666-2delinsCCA c.4871-4_4871-2delinsCCA (n.4871-4_4871-2delinsCCA) c.4937-4_4937-2delinsCCA (n.4937-4_4937-2delinsCCA) c.4862-4_4862-2delinsCCA (n.4862-4_4862-2delinsCCA) n.2717-4_2717-2delinsCCA c.4994-4_4994-2delinsCCA (n.4994-4_4994-2delinsCCA) c.4865-4_4865-2delinsCCA (n.4865-4_4865-2delinsCCA) c.4990-4_4990-2delinsCCA n.3153-4_3153-2delinsCCA c.5063-4_5063-2delinsCCA (n.5063-4_5063-2delinsCCA) n.3884-4_3884-2delinsCCA n.2321-4_2321-2delinsCCA n.2292-4_2292-2delinsCCA n.2182-4_2182-2delinsCCA c.4724-4_4724-2delinsCCA (n.4724-4_4724-2delinsCCA) c.*4236-4_*4236-2delinsCCA (n.*4236-4_*4236-2delinsCCA) c.4760-4_4760-2delinsCCA (n.4760-4_4760-2delinsCCA) n.2792-4_2792-2delinsCCA c.1251-4_1251-2delinsCCA n.2184-4_2184-2delinsCCA c.5123-4_5123-2delinsCCA (n.5123-4_5123-2delinsCCA) c.5120-4_5120-2delinsCCA (n.5120-4_5120-2delinsCCA) c.5012-4_5012-2delinsCCA (n.5012-4_5012-2delinsCCA) c.4991-4_4991-2delinsCCA (n.4991-4_4991-2delinsCCA) c.4337-4_4337-2delinsCCA (n.4337-4_4337-2delinsCCA) c.5285-4_5285-2delinsCCA (n.5285-4_5285-2delinsCCA) c.5033-4_5033-2delinsCCA (n.5033-4_5033-2delinsCCA) c.3779-4_3779-2delinsCCA (n.3779-4_3779-2delinsCCA) | |
16 | g.2088045C>A | CA2731662039 | TSC2 | c.*3418-3C>A (n.*3418-3C>A) c.4916-3C>A (n.4916-3C>A) c.5066-3C>A (n.5066-3C>A) c.*5582-3C>A (n.*5582-3C>A) c.*7818-3C>A (n.*7818-3C>A) c.5069-3C>A (n.5069-3C>A) c.5000-3C>A (n.5000-3C>A) c.4868-3C>A (n.4868-3C>A) c.4901-3C>A (n.4901-3C>A) c.1292-3C>A n.2951-3C>A c.3723-3C>A c.4940-3C>A (n.4940-3C>A) n.666-3C>A c.4871-3C>A (n.4871-3C>A) c.4937-3C>A (n.4937-3C>A) c.4862-3C>A (n.4862-3C>A) n.2717-3C>A c.4994-3C>A (n.4994-3C>A) c.4865-3C>A (n.4865-3C>A) c.4990-3C>A n.3153-3C>A c.5063-3C>A (n.5063-3C>A) n.3884-3C>A n.2321-3C>A n.2292-3C>A n.2182-3C>A c.4724-3C>A (n.4724-3C>A) c.*4236-3C>A (n.*4236-3C>A) c.4760-3C>A (n.4760-3C>A) n.2792-3C>A c.1251-3C>A n.2184-3C>A c.5123-3C>A (n.5123-3C>A) c.5120-3C>A (n.5120-3C>A) c.5012-3C>A (n.5012-3C>A) c.4991-3C>A (n.4991-3C>A) c.4337-3C>A (n.4337-3C>A) c.5285-3C>A (n.5285-3C>A) c.5033-3C>A (n.5033-3C>A) c.3779-3C>A (n.3779-3C>A) | dbSNP |
16 | g.2088045C= | CA2202030199 | TSC2 | c.*3418-3C= (n.*3418-3C=) c.4916-3C= (n.4916-3C=) c.5066-3C= (n.5066-3C=) c.*5582-3C= (n.*5582-3C=) c.*7818-3C= (n.*7818-3C=) c.5069-3C= (n.5069-3C=) c.5000-3C= (n.5000-3C=) c.4868-3C= (n.4868-3C=) c.4901-3C= (n.4901-3C=) c.1292-3C= n.2951-3C= c.3723-3C= c.4940-3C= (n.4940-3C=) n.666-3C= c.4871-3C= (n.4871-3C=) c.4937-3C= (n.4937-3C=) c.4862-3C= (n.4862-3C=) n.2717-3C= c.4994-3C= (n.4994-3C=) c.4865-3C= (n.4865-3C=) c.4990-3C= n.3153-3C= c.5063-3C= (n.5063-3C=) n.3884-3C= n.2321-3C= n.2292-3C= n.2182-3C= c.4724-3C= (n.4724-3C=) c.*4236-3C= (n.*4236-3C=) c.4760-3C= (n.4760-3C=) n.2792-3C= c.1251-3C= n.2184-3C= c.5123-3C= (n.5123-3C=) c.5120-3C= (n.5120-3C=) c.5012-3C= (n.5012-3C=) c.4991-3C= (n.4991-3C=) c.4337-3C= (n.4337-3C=) c.5285-3C= (n.5285-3C=) c.5033-3C= (n.5033-3C=) c.3779-3C= (n.3779-3C=) | |
16 | g.2088045C>T | CA916081799 | TSC2 | c.*3418-3C>T (n.*3418-3C>T) c.4916-3C>T (n.4916-3C>T) c.5066-3C>T (n.5066-3C>T) c.*5582-3C>T (n.*5582-3C>T) c.*7818-3C>T (n.*7818-3C>T) c.5069-3C>T (n.5069-3C>T) c.5000-3C>T (n.5000-3C>T) c.4868-3C>T (n.4868-3C>T) c.4901-3C>T (n.4901-3C>T) c.1292-3C>T n.2951-3C>T c.3723-3C>T c.4940-3C>T (n.4940-3C>T) n.666-3C>T c.4871-3C>T (n.4871-3C>T) c.4937-3C>T (n.4937-3C>T) c.4862-3C>T (n.4862-3C>T) n.2717-3C>T c.4994-3C>T (n.4994-3C>T) c.4865-3C>T (n.4865-3C>T) c.4990-3C>T n.3153-3C>T c.5063-3C>T (n.5063-3C>T) n.3884-3C>T n.2321-3C>T n.2292-3C>T n.2182-3C>T c.4724-3C>T (n.4724-3C>T) c.*4236-3C>T (n.*4236-3C>T) c.4760-3C>T (n.4760-3C>T) n.2792-3C>T c.1251-3C>T n.2184-3C>T c.5123-3C>T (n.5123-3C>T) c.5120-3C>T (n.5120-3C>T) c.5012-3C>T (n.5012-3C>T) c.4991-3C>T (n.4991-3C>T) c.4337-3C>T (n.4337-3C>T) c.5285-3C>T (n.5285-3C>T) c.5033-3C>T (n.5033-3C>T) c.3779-3C>T (n.3779-3C>T) | ClinVar dbSNP gnomAD v4 |
16 | g.2088045_2088046del | CA645369669 | TSC2 | c.*3418-3_*3418-2del (n.*3418-3_*3418-2del) c.4916-3_4916-2del (n.4916-3_4916-2del) c.5066-3_5066-2del (n.5066-3_5066-2del) c.*5582-3_*5582-2del (n.*5582-3_*5582-2del) c.*7818-3_*7818-2del (n.*7818-3_*7818-2del) c.5069-3_5069-2del (n.5069-3_5069-2del) c.5000-3_5000-2del (n.5000-3_5000-2del) c.4868-3_4868-2del (n.4868-3_4868-2del) c.4901-3_4901-2del (n.4901-3_4901-2del) c.1292-3_1292-2del n.2951-3_2951-2del c.3723-3_3723-2del c.4940-3_4940-2del (n.4940-3_4940-2del) n.666-3_666-2del c.4871-3_4871-2del (n.4871-3_4871-2del) c.4937-3_4937-2del (n.4937-3_4937-2del) c.4862-3_4862-2del (n.4862-3_4862-2del) n.2717-3_2717-2del c.4994-3_4994-2del (n.4994-3_4994-2del) c.4865-3_4865-2del (n.4865-3_4865-2del) c.4990-3_4990-2del n.3153-3_3153-2del c.5063-3_5063-2del (n.5063-3_5063-2del) n.3884-3_3884-2del n.2321-3_2321-2del n.2292-3_2292-2del n.2182-3_2182-2del c.4724-3_4724-2del (n.4724-3_4724-2del) c.*4236-3_*4236-2del (n.*4236-3_*4236-2del) c.4760-3_4760-2del (n.4760-3_4760-2del) n.2792-3_2792-2del c.1251-3_1251-2del n.2184-3_2184-2del c.5123-3_5123-2del (n.5123-3_5123-2del) c.5120-3_5120-2del (n.5120-3_5120-2del) c.5012-3_5012-2del (n.5012-3_5012-2del) c.4991-3_4991-2del (n.4991-3_4991-2del) c.4337-3_4337-2del (n.4337-3_4337-2del) c.5285-3_5285-2del (n.5285-3_5285-2del) c.5033-3_5033-2del (n.5033-3_5033-2del) c.3779-3_3779-2del (n.3779-3_3779-2del) | ClinVar dbSNP |
16 | g.2088046A= | CA2202030206 | TSC2 | c.*3418-2A= (n.*3418-2A=) c.4916-2A= (n.4916-2A=) c.5066-2A= (n.5066-2A=) c.*5582-2A= (n.*5582-2A=) c.*7818-2A= (n.*7818-2A=) c.5069-2A= (n.5069-2A=) c.5000-2A= (n.5000-2A=) c.4868-2A= (n.4868-2A=) c.4901-2A= (n.4901-2A=) c.1292-2A= n.2951-2A= c.3723-2A= c.4940-2A= (n.4940-2A=) n.666-2A= c.4871-2A= (n.4871-2A=) c.4937-2A= (n.4937-2A=) c.4862-2A= (n.4862-2A=) n.2717-2A= c.4994-2A= (n.4994-2A=) c.4865-2A= (n.4865-2A=) c.4990-2A= n.3153-2A= c.5063-2A= (n.5063-2A=) n.3884-2A= n.2321-2A= n.2292-2A= n.2182-2A= c.4724-2A= (n.4724-2A=) c.*4236-2A= (n.*4236-2A=) c.4760-2A= (n.4760-2A=) n.2792-2A= c.1251-2A= n.2184-2A= c.5123-2A= (n.5123-2A=) c.5120-2A= (n.5120-2A=) c.5012-2A= (n.5012-2A=) c.4991-2A= (n.4991-2A=) c.4337-2A= (n.4337-2A=) c.5285-2A= (n.5285-2A=) c.5033-2A= (n.5033-2A=) c.3779-2A= (n.3779-2A=) | |
16 | g.2088046A>C | CA16608078 | TSC2 | c.*3418-2A>C (n.*3418-2A>C) c.4916-2A>C (n.4916-2A>C) c.5066-2A>C (n.5066-2A>C) c.*5582-2A>C (n.*5582-2A>C) c.*7818-2A>C (n.*7818-2A>C) c.5069-2A>C (n.5069-2A>C) c.5000-2A>C (n.5000-2A>C) c.4868-2A>C (n.4868-2A>C) c.4901-2A>C (n.4901-2A>C) c.1292-2A>C n.2951-2A>C c.3723-2A>C c.4940-2A>C (n.4940-2A>C) n.666-2A>C c.4871-2A>C (n.4871-2A>C) c.4937-2A>C (n.4937-2A>C) c.4862-2A>C (n.4862-2A>C) n.2717-2A>C c.4994-2A>C (n.4994-2A>C) c.4865-2A>C (n.4865-2A>C) c.4990-2A>C n.3153-2A>C c.5063-2A>C (n.5063-2A>C) n.3884-2A>C n.2321-2A>C n.2292-2A>C n.2182-2A>C c.4724-2A>C (n.4724-2A>C) c.*4236-2A>C (n.*4236-2A>C) c.4760-2A>C (n.4760-2A>C) n.2792-2A>C c.1251-2A>C n.2184-2A>C c.5123-2A>C (n.5123-2A>C) c.5120-2A>C (n.5120-2A>C) c.5012-2A>C (n.5012-2A>C) c.4991-2A>C (n.4991-2A>C) c.4337-2A>C (n.4337-2A>C) c.5285-2A>C (n.5285-2A>C) c.5033-2A>C (n.5033-2A>C) c.3779-2A>C (n.3779-2A>C) | ClinVar dbSNP |
16 | g.2088046A>G | CA021662 | TSC2 | c.*3418-2A>G (n.*3418-2A>G) c.4916-2A>G (n.4916-2A>G) c.5066-2A>G (n.5066-2A>G) c.*5582-2A>G (n.*5582-2A>G) c.*7818-2A>G (n.*7818-2A>G) c.5069-2A>G (n.5069-2A>G) c.5000-2A>G (n.5000-2A>G) c.4868-2A>G (n.4868-2A>G) c.4901-2A>G (n.4901-2A>G) c.1292-2A>G n.2951-2A>G c.3723-2A>G c.4940-2A>G (n.4940-2A>G) n.666-2A>G c.4871-2A>G (n.4871-2A>G) c.4937-2A>G (n.4937-2A>G) c.4862-2A>G (n.4862-2A>G) n.2717-2A>G c.4994-2A>G (n.4994-2A>G) c.4865-2A>G (n.4865-2A>G) c.4990-2A>G n.3153-2A>G c.5063-2A>G (n.5063-2A>G) n.3884-2A>G n.2321-2A>G n.2292-2A>G n.2182-2A>G c.4724-2A>G (n.4724-2A>G) c.*4236-2A>G (n.*4236-2A>G) c.4760-2A>G (n.4760-2A>G) n.2792-2A>G c.1251-2A>G n.2184-2A>G c.5123-2A>G (n.5123-2A>G) c.5120-2A>G (n.5120-2A>G) c.5012-2A>G (n.5012-2A>G) c.4991-2A>G (n.4991-2A>G) c.4337-2A>G (n.4337-2A>G) c.5285-2A>G (n.5285-2A>G) c.5033-2A>G (n.5033-2A>G) c.3779-2A>G (n.3779-2A>G) | ClinVar dbSNP |
16 | g.2088046A>T | CA394311869 | TSC2 | c.*3418-2A>T (n.*3418-2A>T) c.4916-2A>T (n.4916-2A>T) c.5066-2A>T (n.5066-2A>T) c.*5582-2A>T (n.*5582-2A>T) c.*7818-2A>T (n.*7818-2A>T) c.5069-2A>T (n.5069-2A>T) c.5000-2A>T (n.5000-2A>T) c.4868-2A>T (n.4868-2A>T) c.4901-2A>T (n.4901-2A>T) c.1292-2A>T n.2951-2A>T c.3723-2A>T c.4940-2A>T (n.4940-2A>T) n.666-2A>T c.4871-2A>T (n.4871-2A>T) c.4937-2A>T (n.4937-2A>T) c.4862-2A>T (n.4862-2A>T) n.2717-2A>T c.4994-2A>T (n.4994-2A>T) c.4865-2A>T (n.4865-2A>T) c.4990-2A>T n.3153-2A>T c.5063-2A>T (n.5063-2A>T) n.3884-2A>T n.2321-2A>T n.2292-2A>T n.2182-2A>T c.4724-2A>T (n.4724-2A>T) c.*4236-2A>T (n.*4236-2A>T) c.4760-2A>T (n.4760-2A>T) n.2792-2A>T c.1251-2A>T n.2184-2A>T c.5123-2A>T (n.5123-2A>T) c.5120-2A>T (n.5120-2A>T) c.5012-2A>T (n.5012-2A>T) c.4991-2A>T (n.4991-2A>T) c.4337-2A>T (n.4337-2A>T) c.5285-2A>T (n.5285-2A>T) c.5033-2A>T (n.5033-2A>T) c.3779-2A>T (n.3779-2A>T) | dbSNP |
16 | g.2088047G>A | CA021642 | TSC2 | c.*3418-1G>A (n.*3418-1G>A) c.4916-1G>A (n.4916-1G>A) c.5066-1G>A (n.5066-1G>A) c.*5582-1G>A (n.*5582-1G>A) c.*7818-1G>A (n.*7818-1G>A) c.5069-1G>A (n.5069-1G>A) c.5000-1G>A (n.5000-1G>A) c.4868-1G>A (n.4868-1G>A) c.4901-1G>A (n.4901-1G>A) c.1292-1G>A n.2951-1G>A c.3723-1G>A c.4940-1G>A (n.4940-1G>A) n.666-1G>A c.4871-1G>A (n.4871-1G>A) c.4937-1G>A (n.4937-1G>A) c.4862-1G>A (n.4862-1G>A) n.2717-1G>A c.4994-1G>A (n.4994-1G>A) c.4865-1G>A (n.4865-1G>A) c.4990-1G>A n.3153-1G>A c.5063-1G>A (n.5063-1G>A) n.3884-1G>A n.2321-1G>A n.2292-1G>A n.2182-1G>A c.4724-1G>A (n.4724-1G>A) c.*4236-1G>A (n.*4236-1G>A) c.4760-1G>A (n.4760-1G>A) n.2792-1G>A c.1251-1G>A n.2184-1G>A c.5123-1G>A (n.5123-1G>A) c.5120-1G>A (n.5120-1G>A) c.5012-1G>A (n.5012-1G>A) c.4991-1G>A (n.4991-1G>A) c.4337-1G>A (n.4337-1G>A) c.5285-1G>A (n.5285-1G>A) c.5033-1G>A (n.5033-1G>A) c.3779-1G>A (n.3779-1G>A) | ClinVar dbSNP |
16 | g.2088047G>C | CA021646 | TSC2 | c.*3418-1G>C (n.*3418-1G>C) c.4916-1G>C (n.4916-1G>C) c.5066-1G>C (n.5066-1G>C) c.*5582-1G>C (n.*5582-1G>C) c.*7818-1G>C (n.*7818-1G>C) c.5069-1G>C (n.5069-1G>C) c.5000-1G>C (n.5000-1G>C) c.4868-1G>C (n.4868-1G>C) c.4901-1G>C (n.4901-1G>C) c.1292-1G>C n.2951-1G>C c.3723-1G>C c.4940-1G>C (n.4940-1G>C) n.666-1G>C c.4871-1G>C (n.4871-1G>C) c.4937-1G>C (n.4937-1G>C) c.4862-1G>C (n.4862-1G>C) n.2717-1G>C c.4994-1G>C (n.4994-1G>C) c.4865-1G>C (n.4865-1G>C) c.4990-1G>C n.3153-1G>C c.5063-1G>C (n.5063-1G>C) n.3884-1G>C n.2321-1G>C n.2292-1G>C n.2182-1G>C c.4724-1G>C (n.4724-1G>C) c.*4236-1G>C (n.*4236-1G>C) c.4760-1G>C (n.4760-1G>C) n.2792-1G>C c.1251-1G>C n.2184-1G>C c.5123-1G>C (n.5123-1G>C) c.5120-1G>C (n.5120-1G>C) c.5012-1G>C (n.5012-1G>C) c.4991-1G>C (n.4991-1G>C) c.4337-1G>C (n.4337-1G>C) c.5285-1G>C (n.5285-1G>C) c.5033-1G>C (n.5033-1G>C) c.3779-1G>C (n.3779-1G>C) | ClinVar dbSNP |
16 | g.2088047G= | CA2202030213 | TSC2 | c.*3418-1G= (n.*3418-1G=) c.4916-1G= (n.4916-1G=) c.5066-1G= (n.5066-1G=) c.*5582-1G= (n.*5582-1G=) c.*7818-1G= (n.*7818-1G=) c.5069-1G= (n.5069-1G=) c.5000-1G= (n.5000-1G=) c.4868-1G= (n.4868-1G=) c.4901-1G= (n.4901-1G=) c.1292-1G= n.2951-1G= c.3723-1G= c.4940-1G= (n.4940-1G=) n.666-1G= c.4871-1G= (n.4871-1G=) c.4937-1G= (n.4937-1G=) c.4862-1G= (n.4862-1G=) n.2717-1G= c.4994-1G= (n.4994-1G=) c.4865-1G= (n.4865-1G=) c.4990-1G= n.3153-1G= c.5063-1G= (n.5063-1G=) n.3884-1G= n.2321-1G= n.2292-1G= n.2182-1G= c.4724-1G= (n.4724-1G=) c.*4236-1G= (n.*4236-1G=) c.4760-1G= (n.4760-1G=) n.2792-1G= c.1251-1G= n.2184-1G= c.5123-1G= (n.5123-1G=) c.5120-1G= (n.5120-1G=) c.5012-1G= (n.5012-1G=) c.4991-1G= (n.4991-1G=) c.4337-1G= (n.4337-1G=) c.5285-1G= (n.5285-1G=) c.5033-1G= (n.5033-1G=) c.3779-1G= (n.3779-1G=) | |
16 | g.2088047G>T | CA021651 | TSC2 | c.*3418-1G>T (n.*3418-1G>T) c.4916-1G>T (n.4916-1G>T) c.5066-1G>T (n.5066-1G>T) c.*5582-1G>T (n.*5582-1G>T) c.*7818-1G>T (n.*7818-1G>T) c.5069-1G>T (n.5069-1G>T) c.5000-1G>T (n.5000-1G>T) c.4868-1G>T (n.4868-1G>T) c.4901-1G>T (n.4901-1G>T) c.1292-1G>T n.2951-1G>T c.3723-1G>T c.4940-1G>T (n.4940-1G>T) n.666-1G>T c.4871-1G>T (n.4871-1G>T) c.4937-1G>T (n.4937-1G>T) c.4862-1G>T (n.4862-1G>T) n.2717-1G>T c.4994-1G>T (n.4994-1G>T) c.4865-1G>T (n.4865-1G>T) c.4990-1G>T n.3153-1G>T c.5063-1G>T (n.5063-1G>T) n.3884-1G>T n.2321-1G>T n.2292-1G>T n.2182-1G>T c.4724-1G>T (n.4724-1G>T) c.*4236-1G>T (n.*4236-1G>T) c.4760-1G>T (n.4760-1G>T) n.2792-1G>T c.1251-1G>T n.2184-1G>T c.5123-1G>T (n.5123-1G>T) c.5120-1G>T (n.5120-1G>T) c.5012-1G>T (n.5012-1G>T) c.4991-1G>T (n.4991-1G>T) c.4337-1G>T (n.4337-1G>T) c.5285-1G>T (n.5285-1G>T) c.5033-1G>T (n.5033-1G>T) c.3779-1G>T (n.3779-1G>T) | ClinVar dbSNP |
16 | g.2088048A= | CA2202030218 | TSC2 | c.*3418A= (n.*3418A=) c.4916A= (p.Asp1639=) c.5066A= (p.Asp1689=) c.*5582A= (n.*5582A=) c.*7818A= (n.*7818A=) c.5069A= (p.Asp1690=) c.5000A= (p.Asp1667=) c.4868A= (p.Asp1623=) c.4901A= (p.Asp1634=) c.1292A= n.2951A= c.3723A= c.4940A= (p.Asp1647=) n.666A= c.4871A= (p.Asp1624=) c.4937A= (p.Asp1646=) c.4862A= (p.Asp1621=) n.2717A= c.4994A= (p.Asp1665=) c.4865A= (p.Asp1622=) c.4990A= n.3153A= c.5063A= (p.Asp1688=) n.3884A= n.2321A= n.2292A= n.2182A= c.4724A= (p.Asp1575=) c.*4236A= (n.*4236A=) c.4760A= (p.Asp1587=) n.2792A= c.1251A= n.2184A= c.5123A= (p.Asp1708=) c.5120A= (p.Asp1707=) c.5012A= (p.Asp1671=) c.4991A= (p.Asp1664=) c.4337A= (p.Asp1446=) c.5285A= (p.Asp1762=) c.5033A= (p.Asp1678=) c.3779A= (p.Asp1260=) | |
16 | g.2088048A>C | CA394311878 | TSC2 | c.*3418A>C (n.*3418A>C) c.4916A>C (p.Asp1639Ala) c.5066A>C (p.Asp1689Ala) c.*5582A>C (n.*5582A>C) c.*7818A>C (n.*7818A>C) c.5069A>C (p.Asp1690Ala) c.5000A>C (p.Asp1667Ala) c.4868A>C (p.Asp1623Ala) c.4901A>C (p.Asp1634Ala) c.1292A>C n.2951A>C c.3723A>C c.4940A>C (p.Asp1647Ala) n.666A>C c.4871A>C (p.Asp1624Ala) c.4937A>C (p.Asp1646Ala) c.4862A>C (p.Asp1621Ala) n.2717A>C c.4994A>C (p.Asp1665Ala) c.4865A>C (p.Asp1622Ala) c.4990A>C n.3153A>C c.5063A>C (p.Asp1688Ala) n.3884A>C n.2321A>C n.2292A>C n.2182A>C c.4724A>C (p.Asp1575Ala) c.*4236A>C (n.*4236A>C) c.4760A>C (p.Asp1587Ala) n.2792A>C c.1251A>C n.2184A>C c.5123A>C (p.Asp1708Ala) c.5120A>C (p.Asp1707Ala) c.5012A>C (p.Asp1671Ala) c.4991A>C (p.Asp1664Ala) c.4337A>C (p.Asp1446Ala) c.5285A>C (p.Asp1762Ala) c.5033A>C (p.Asp1678Ala) c.3779A>C (p.Asp1260Ala) | ClinVar dbSNP |
16 | g.2088048A>G | CA394311881 | TSC2 | c.*3418A>G (n.*3418A>G) c.4916A>G (p.Asp1639Gly) c.5066A>G (p.Asp1689Gly) c.*5582A>G (n.*5582A>G) c.*7818A>G (n.*7818A>G) c.5069A>G (p.Asp1690Gly) c.5000A>G (p.Asp1667Gly) c.4868A>G (p.Asp1623Gly) c.4901A>G (p.Asp1634Gly) c.1292A>G n.2951A>G c.3723A>G c.4940A>G (p.Asp1647Gly) n.666A>G c.4871A>G (p.Asp1624Gly) c.4937A>G (p.Asp1646Gly) c.4862A>G (p.Asp1621Gly) n.2717A>G c.4994A>G (p.Asp1665Gly) c.4865A>G (p.Asp1622Gly) c.4990A>G n.3153A>G c.5063A>G (p.Asp1688Gly) n.3884A>G n.2321A>G n.2292A>G n.2182A>G c.4724A>G (p.Asp1575Gly) c.*4236A>G (n.*4236A>G) c.4760A>G (p.Asp1587Gly) n.2792A>G c.1251A>G n.2184A>G c.5123A>G (p.Asp1708Gly) c.5120A>G (p.Asp1707Gly) c.5012A>G (p.Asp1671Gly) c.4991A>G (p.Asp1664Gly) c.4337A>G (p.Asp1446Gly) c.5285A>G (p.Asp1762Gly) c.5033A>G (p.Asp1678Gly) c.3779A>G (p.Asp1260Gly) | dbSNP |
16 | g.2088048A>T | CA394311883 | TSC2 | c.*3418A>T (n.*3418A>T) c.4916A>T (p.Asp1639Val) c.5066A>T (p.Asp1689Val) c.*5582A>T (n.*5582A>T) c.*7818A>T (n.*7818A>T) c.5069A>T (p.Asp1690Val) c.5000A>T (p.Asp1667Val) c.4868A>T (p.Asp1623Val) c.4901A>T (p.Asp1634Val) c.1292A>T n.2951A>T c.3723A>T c.4940A>T (p.Asp1647Val) n.666A>T c.4871A>T (p.Asp1624Val) c.4937A>T (p.Asp1646Val) c.4862A>T (p.Asp1621Val) n.2717A>T c.4994A>T (p.Asp1665Val) c.4865A>T (p.Asp1622Val) c.4990A>T n.3153A>T c.5063A>T (p.Asp1688Val) n.3884A>T n.2321A>T n.2292A>T n.2182A>T c.4724A>T (p.Asp1575Val) c.*4236A>T (n.*4236A>T) c.4760A>T (p.Asp1587Val) n.2792A>T c.1251A>T n.2184A>T c.5123A>T (p.Asp1708Val) c.5120A>T (p.Asp1707Val) c.5012A>T (p.Asp1671Val) c.4991A>T (p.Asp1664Val) c.4337A>T (p.Asp1446Val) c.5285A>T (p.Asp1762Val) c.5033A>T (p.Asp1678Val) c.3779A>T (p.Asp1260Val) | dbSNP |
16 | g.2088049C>A | CA394311885 | TSC2 | c.*3419C>A (n.*3419C>A) c.4917C>A (p.Asp1639Glu) c.5067C>A (p.Asp1689Glu) c.*5583C>A (n.*5583C>A) c.*7819C>A (n.*7819C>A) c.5070C>A (p.Asp1690Glu) c.5001C>A (p.Asp1667Glu) c.4869C>A (p.Asp1623Glu) c.4902C>A (p.Asp1634Glu) c.1293C>A n.2952C>A c.3724C>A c.4941C>A (p.Asp1647Glu) n.667C>A c.4872C>A (p.Asp1624Glu) c.4938C>A (p.Asp1646Glu) c.4863C>A (p.Asp1621Glu) n.2718C>A c.4995C>A (p.Asp1665Glu) c.4866C>A (p.Asp1622Glu) c.4991C>A n.3154C>A c.5064C>A (p.Asp1688Glu) n.3885C>A n.2322C>A n.2293C>A n.2183C>A c.4725C>A (p.Asp1575Glu) c.*4237C>A (n.*4237C>A) c.4761C>A (p.Asp1587Glu) n.2793C>A c.1252C>A n.2185C>A c.5124C>A (p.Asp1708Glu) c.5121C>A (p.Asp1707Glu) c.5013C>A (p.Asp1671Glu) c.4992C>A (p.Asp1664Glu) c.4338C>A (p.Asp1446Glu) c.5286C>A (p.Asp1762Glu) c.5034C>A (p.Asp1678Glu) c.3780C>A (p.Asp1260Glu) | ClinVar dbSNP |
16 | g.2088049C= | CA2202030224 | TSC2 | c.*3419C= (n.*3419C=) c.4917C= (p.Asp1639=) c.5067C= (p.Asp1689=) c.*5583C= (n.*5583C=) c.*7819C= (n.*7819C=) c.5070C= (p.Asp1690=) c.5001C= (p.Asp1667=) c.4869C= (p.Asp1623=) c.4902C= (p.Asp1634=) c.1293C= n.2952C= c.3724C= c.4941C= (p.Asp1647=) n.667C= c.4872C= (p.Asp1624=) c.4938C= (p.Asp1646=) c.4863C= (p.Asp1621=) n.2718C= c.4995C= (p.Asp1665=) c.4866C= (p.Asp1622=) c.4991C= n.3154C= c.5064C= (p.Asp1688=) n.3885C= n.2322C= n.2293C= n.2183C= c.4725C= (p.Asp1575=) c.*4237C= (n.*4237C=) c.4761C= (p.Asp1587=) n.2793C= c.1252C= n.2185C= c.5124C= (p.Asp1708=) c.5121C= (p.Asp1707=) c.5013C= (p.Asp1671=) c.4992C= (p.Asp1664=) c.4338C= (p.Asp1446=) c.5286C= (p.Asp1762=) c.5034C= (p.Asp1678=) c.3780C= (p.Asp1260=) | |
16 | g.2088049C>G | CA394311887 | TSC2 | c.*3419C>G (n.*3419C>G) c.4917C>G (p.Asp1639Glu) c.5067C>G (p.Asp1689Glu) c.*5583C>G (n.*5583C>G) c.*7819C>G (n.*7819C>G) c.5070C>G (p.Asp1690Glu) c.5001C>G (p.Asp1667Glu) c.4869C>G (p.Asp1623Glu) c.4902C>G (p.Asp1634Glu) c.1293C>G n.2952C>G c.3724C>G c.4941C>G (p.Asp1647Glu) n.667C>G c.4872C>G (p.Asp1624Glu) c.4938C>G (p.Asp1646Glu) c.4863C>G (p.Asp1621Glu) n.2718C>G c.4995C>G (p.Asp1665Glu) c.4866C>G (p.Asp1622Glu) c.4991C>G n.3154C>G c.5064C>G (p.Asp1688Glu) n.3885C>G n.2322C>G n.2293C>G n.2183C>G c.4725C>G (p.Asp1575Glu) c.*4237C>G (n.*4237C>G) c.4761C>G (p.Asp1587Glu) n.2793C>G c.1252C>G n.2185C>G c.5124C>G (p.Asp1708Glu) c.5121C>G (p.Asp1707Glu) c.5013C>G (p.Asp1671Glu) c.4992C>G (p.Asp1664Glu) c.4338C>G (p.Asp1446Glu) c.5286C>G (p.Asp1762Glu) c.5034C>G (p.Asp1678Glu) c.3780C>G (p.Asp1260Glu) | ClinVar dbSNP gnomAD v4 |
16 | g.2088049C>T | CA493043629 | TSC2 | c.*3419C>T (n.*3419C>T) c.4917C>T (p.Asp1639=) c.5067C>T (p.Asp1689=) c.*5583C>T (n.*5583C>T) c.*7819C>T (n.*7819C>T) c.5070C>T (p.Asp1690=) c.5001C>T (p.Asp1667=) c.4869C>T (p.Asp1623=) c.4902C>T (p.Asp1634=) c.1293C>T n.2952C>T c.3724C>T c.4941C>T (p.Asp1647=) n.667C>T c.4872C>T (p.Asp1624=) c.4938C>T (p.Asp1646=) c.4863C>T (p.Asp1621=) n.2718C>T c.4995C>T (p.Asp1665=) c.4866C>T (p.Asp1622=) c.4991C>T n.3154C>T c.5064C>T (p.Asp1688=) n.3885C>T n.2322C>T n.2293C>T n.2183C>T c.4725C>T (p.Asp1575=) c.*4237C>T (n.*4237C>T) c.4761C>T (p.Asp1587=) n.2793C>T c.1252C>T n.2185C>T c.5124C>T (p.Asp1708=) c.5121C>T (p.Asp1707=) c.5013C>T (p.Asp1671=) c.4992C>T (p.Asp1664=) c.4338C>T (p.Asp1446=) c.5286C>T (p.Asp1762=) c.5034C>T (p.Asp1678=) c.3780C>T (p.Asp1260=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088050A= | CA2202030234 | TSC2 | c.*3420A= (n.*3420A=) c.4918A= (p.Met1640=) c.5068A= (p.Met1690=) c.*5584A= (n.*5584A=) c.*7820A= (n.*7820A=) c.5071A= (p.Met1691=) c.5002A= (p.Met1668=) c.4870A= (p.Met1624=) c.4903A= (p.Met1635=) c.1294A= n.2953A= c.3725A= c.4942A= (p.Met1648=) n.668A= c.4873A= (p.Met1625=) c.4939A= (p.Met1647=) c.4864A= (p.Met1622=) n.2719A= c.4996A= (p.Met1666=) c.4867A= (p.Met1623=) c.4992A= n.3155A= c.5065A= (p.Met1689=) n.3886A= n.2323A= n.2294A= n.2184A= c.4726A= (p.Met1576=) c.*4238A= (n.*4238A=) c.4762A= (p.Met1588=) n.2794A= c.1253A= n.2186A= c.5125A= (p.Met1709=) c.5122A= (p.Met1708=) c.5014A= (p.Met1672=) c.4993A= (p.Met1665=) c.4339A= (p.Met1447=) c.5287A= (p.Met1763=) c.5035A= (p.Met1679=) c.3781A= (p.Met1261=) | |
16 | g.2088050A>C | CA394311892 | TSC2 | c.*3420A>C (n.*3420A>C) c.4918A>C (p.Met1640Leu) c.5068A>C (p.Met1690Leu) c.*5584A>C (n.*5584A>C) c.*7820A>C (n.*7820A>C) c.5071A>C (p.Met1691Leu) c.5002A>C (p.Met1668Leu) c.4870A>C (p.Met1624Leu) c.4903A>C (p.Met1635Leu) c.1294A>C n.2953A>C c.3725A>C c.4942A>C (p.Met1648Leu) n.668A>C c.4873A>C (p.Met1625Leu) c.4939A>C (p.Met1647Leu) c.4864A>C (p.Met1622Leu) n.2719A>C c.4996A>C (p.Met1666Leu) c.4867A>C (p.Met1623Leu) c.4992A>C n.3155A>C c.5065A>C (p.Met1689Leu) n.3886A>C n.2323A>C n.2294A>C n.2184A>C c.4726A>C (p.Met1576Leu) c.*4238A>C (n.*4238A>C) c.4762A>C (p.Met1588Leu) n.2794A>C c.1253A>C n.2186A>C c.5125A>C (p.Met1709Leu) c.5122A>C (p.Met1708Leu) c.5014A>C (p.Met1672Leu) c.4993A>C (p.Met1665Leu) c.4339A>C (p.Met1447Leu) c.5287A>C (p.Met1763Leu) c.5035A>C (p.Met1679Leu) c.3781A>C (p.Met1261Leu) | |
16 | g.2088050A>G | CA053878 | TSC2 | c.*3420A>G (n.*3420A>G) c.4918A>G (p.Met1640Val) c.5068A>G (p.Met1690Val) c.*5584A>G (n.*5584A>G) c.*7820A>G (n.*7820A>G) c.5071A>G (p.Met1691Val) c.5002A>G (p.Met1668Val) c.4870A>G (p.Met1624Val) c.4903A>G (p.Met1635Val) c.1294A>G n.2953A>G c.3725A>G c.4942A>G (p.Met1648Val) n.668A>G c.4873A>G (p.Met1625Val) c.4939A>G (p.Met1647Val) c.4864A>G (p.Met1622Val) n.2719A>G c.4996A>G (p.Met1666Val) c.4867A>G (p.Met1623Val) c.4992A>G n.3155A>G c.5065A>G (p.Met1689Val) n.3886A>G n.2323A>G n.2294A>G n.2184A>G c.4726A>G (p.Met1576Val) c.*4238A>G (n.*4238A>G) c.4762A>G (p.Met1588Val) n.2794A>G c.1253A>G n.2186A>G c.5125A>G (p.Met1709Val) c.5122A>G (p.Met1708Val) c.5014A>G (p.Met1672Val) c.4993A>G (p.Met1665Val) c.4339A>G (p.Met1447Val) c.5287A>G (p.Met1763Val) c.5035A>G (p.Met1679Val) c.3781A>G (p.Met1261Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088050A>T | CA394311897 | TSC2 | c.*3420A>T (n.*3420A>T) c.4918A>T (p.Met1640Leu) c.5068A>T (p.Met1690Leu) c.*5584A>T (n.*5584A>T) c.*7820A>T (n.*7820A>T) c.5071A>T (p.Met1691Leu) c.5002A>T (p.Met1668Leu) c.4870A>T (p.Met1624Leu) c.4903A>T (p.Met1635Leu) c.1294A>T n.2953A>T c.3725A>T c.4942A>T (p.Met1648Leu) n.668A>T c.4873A>T (p.Met1625Leu) c.4939A>T (p.Met1647Leu) c.4864A>T (p.Met1622Leu) n.2719A>T c.4996A>T (p.Met1666Leu) c.4867A>T (p.Met1623Leu) c.4992A>T n.3155A>T c.5065A>T (p.Met1689Leu) n.3886A>T n.2323A>T n.2294A>T n.2184A>T c.4726A>T (p.Met1576Leu) c.*4238A>T (n.*4238A>T) c.4762A>T (p.Met1588Leu) n.2794A>T c.1253A>T n.2186A>T c.5125A>T (p.Met1709Leu) c.5122A>T (p.Met1708Leu) c.5014A>T (p.Met1672Leu) c.4993A>T (p.Met1665Leu) c.4339A>T (p.Met1447Leu) c.5287A>T (p.Met1763Leu) c.5035A>T (p.Met1679Leu) c.3781A>T (p.Met1261Leu) | gnomAD v4 |
16 | g.2088051T>A | CA394311903 | TSC2 | c.*3421T>A (n.*3421T>A) c.4919T>A (p.Met1640Lys) c.5069T>A (p.Met1690Lys) c.*5585T>A (n.*5585T>A) c.*7821T>A (n.*7821T>A) c.5072T>A (p.Met1691Lys) c.5003T>A (p.Met1668Lys) c.4871T>A (p.Met1624Lys) c.4904T>A (p.Met1635Lys) c.1295T>A n.2954T>A c.3726T>A c.4943T>A (p.Met1648Lys) n.669T>A c.4874T>A (p.Met1625Lys) c.4940T>A (p.Met1647Lys) c.4865T>A (p.Met1622Lys) n.2720T>A c.4997T>A (p.Met1666Lys) c.4868T>A (p.Met1623Lys) c.4993T>A n.3156T>A c.5066T>A (p.Met1689Lys) n.3887T>A n.2324T>A n.2295T>A n.2185T>A c.4727T>A (p.Met1576Lys) c.*4239T>A (n.*4239T>A) c.4763T>A (p.Met1588Lys) n.2795T>A c.1254T>A n.2187T>A c.5126T>A (p.Met1709Lys) c.5123T>A (p.Met1708Lys) c.5015T>A (p.Met1672Lys) c.4994T>A (p.Met1665Lys) c.4340T>A (p.Met1447Lys) c.5288T>A (p.Met1763Lys) c.5036T>A (p.Met1679Lys) c.3782T>A (p.Met1261Lys) | |
16 | g.2088051T>C | CA021670 | TSC2 | c.*3421T>C (n.*3421T>C) c.4919T>C (p.Met1640Thr) c.5069T>C (p.Met1690Thr) c.*5585T>C (n.*5585T>C) c.*7821T>C (n.*7821T>C) c.5072T>C (p.Met1691Thr) c.5003T>C (p.Met1668Thr) c.4871T>C (p.Met1624Thr) c.4904T>C (p.Met1635Thr) c.1295T>C n.2954T>C c.3726T>C c.4943T>C (p.Met1648Thr) n.669T>C c.4874T>C (p.Met1625Thr) c.4940T>C (p.Met1647Thr) c.4865T>C (p.Met1622Thr) n.2720T>C c.4997T>C (p.Met1666Thr) c.4868T>C (p.Met1623Thr) c.4993T>C n.3156T>C c.5066T>C (p.Met1689Thr) n.3887T>C n.2324T>C n.2295T>C n.2185T>C c.4727T>C (p.Met1576Thr) c.*4239T>C (n.*4239T>C) c.4763T>C (p.Met1588Thr) n.2795T>C c.1254T>C n.2187T>C c.5126T>C (p.Met1709Thr) c.5123T>C (p.Met1708Thr) c.5015T>C (p.Met1672Thr) c.4994T>C (p.Met1665Thr) c.4340T>C (p.Met1447Thr) c.5288T>C (p.Met1763Thr) c.5036T>C (p.Met1679Thr) c.3782T>C (p.Met1261Thr) | ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC |
16 | g.2088051T>G | CA394311914 | TSC2 | c.*3421T>G (n.*3421T>G) c.4919T>G (p.Met1640Arg) c.5069T>G (p.Met1690Arg) c.*5585T>G (n.*5585T>G) c.*7821T>G (n.*7821T>G) c.5072T>G (p.Met1691Arg) c.5003T>G (p.Met1668Arg) c.4871T>G (p.Met1624Arg) c.4904T>G (p.Met1635Arg) c.1295T>G n.2954T>G c.3726T>G c.4943T>G (p.Met1648Arg) n.669T>G c.4874T>G (p.Met1625Arg) c.4940T>G (p.Met1647Arg) c.4865T>G (p.Met1622Arg) n.2720T>G c.4997T>G (p.Met1666Arg) c.4868T>G (p.Met1623Arg) c.4993T>G n.3156T>G c.5066T>G (p.Met1689Arg) n.3887T>G n.2324T>G n.2295T>G n.2185T>G c.4727T>G (p.Met1576Arg) c.*4239T>G (n.*4239T>G) c.4763T>G (p.Met1588Arg) n.2795T>G c.1254T>G n.2187T>G c.5126T>G (p.Met1709Arg) c.5123T>G (p.Met1708Arg) c.5015T>G (p.Met1672Arg) c.4994T>G (p.Met1665Arg) c.4340T>G (p.Met1447Arg) c.5288T>G (p.Met1763Arg) c.5036T>G (p.Met1679Arg) c.3782T>G (p.Met1261Arg) | |
16 | g.2088051T= | CA2202030240 | TSC2 | c.*3421T= (n.*3421T=) c.4919T= (p.Met1640=) c.5069T= (p.Met1690=) c.*5585T= (n.*5585T=) c.*7821T= (n.*7821T=) c.5072T= (p.Met1691=) c.5003T= (p.Met1668=) c.4871T= (p.Met1624=) c.4904T= (p.Met1635=) c.1295T= n.2954T= c.3726T= c.4943T= (p.Met1648=) n.669T= c.4874T= (p.Met1625=) c.4940T= (p.Met1647=) c.4865T= (p.Met1622=) n.2720T= c.4997T= (p.Met1666=) c.4868T= (p.Met1623=) c.4993T= n.3156T= c.5066T= (p.Met1689=) n.3887T= n.2324T= n.2295T= n.2185T= c.4727T= (p.Met1576=) c.*4239T= (n.*4239T=) c.4763T= (p.Met1588=) n.2795T= c.1254T= n.2187T= c.5126T= (p.Met1709=) c.5123T= (p.Met1708=) c.5015T= (p.Met1672=) c.4994T= (p.Met1665=) c.4340T= (p.Met1447=) c.5288T= (p.Met1763=) c.5036T= (p.Met1679=) c.3782T= (p.Met1261=) | |
16 | g.2088051_2088055delinsTGGAG | CA2202030244 | TSC2 | c.*3421_*3425delinsTGGAG (n.*3421_*3425delinsTGGAG) c.4919_4923delinsTGGAG (p.Met1640=) c.5069_5073delinsTGGAG (p.Met1690=) c.*5585_*5589delinsTGGAG (n.*5585_*5589delinsTGGAG) c.*7821_*7825delinsTGGAG (n.*7821_*7825delinsTGGAG) c.5072_5076delinsTGGAG (p.Met1691=) c.5003_5007delinsTGGAG (p.Met1668=) c.4871_4875delinsTGGAG (p.Met1624=) c.4904_4908delinsTGGAG (p.Met1635=) c.1295_1299delinsTGGAG n.2954_2958delinsTGGAG c.3726_3730delinsTGGAG c.4943_4947delinsTGGAG (p.Met1648=) n.669_673delinsTGGAG c.4874_4878delinsTGGAG (p.Met1625=) c.4940_4944delinsTGGAG (p.Met1647=) c.4865_4869delinsTGGAG (p.Met1622=) n.2720_2724delinsTGGAG c.4997_5001delinsTGGAG (p.Met1666=) c.4868_4872delinsTGGAG (p.Met1623=) c.4993_4997delinsTGGAG n.3156_3160delinsTGGAG c.5066_5070delinsTGGAG (p.Met1689=) n.3887_3891delinsTGGAG n.2324_2328delinsTGGAG n.2295_2299delinsTGGAG n.2185_2189delinsTGGAG c.4727_4731delinsTGGAG (p.Met1576=) c.*4239_*4243delinsTGGAG (n.*4239_*4243delinsTGGAG) c.4763_4767delinsTGGAG (p.Met1588=) n.2795_2799delinsTGGAG c.1254_1258delinsTGGAG n.2187_2191delinsTGGAG c.5126_5130delinsTGGAG (p.Met1709=) c.5123_5127delinsTGGAG (p.Met1708=) c.5015_5019delinsTGGAG (p.Met1672=) c.4994_4998delinsTGGAG (p.Met1665=) c.4340_4344delinsTGGAG (p.Met1447=) c.5288_5292delinsTGGAG (p.Met1763=) c.5036_5040delinsTGGAG (p.Met1679=) c.3782_3786delinsTGGAG (p.Met1261=) | |
16 | g.2088052G>A | CA394311921 | TSC2 | c.*3422G>A (n.*3422G>A) c.4920G>A (p.Met1640Ile) c.5070G>A (p.Met1690Ile) c.*5586G>A (n.*5586G>A) c.*7822G>A (n.*7822G>A) c.5073G>A (p.Met1691Ile) c.5004G>A (p.Met1668Ile) c.4872G>A (p.Met1624Ile) c.4905G>A (p.Met1635Ile) c.1296G>A n.2955G>A c.3727G>A c.4944G>A (p.Met1648Ile) n.670G>A c.4875G>A (p.Met1625Ile) c.4941G>A (p.Met1647Ile) c.4866G>A (p.Met1622Ile) n.2721G>A c.4998G>A (p.Met1666Ile) c.4869G>A (p.Met1623Ile) c.4994G>A n.3157G>A c.5067G>A (p.Met1689Ile) n.3888G>A n.2325G>A n.2296G>A n.2186G>A c.4728G>A (p.Met1576Ile) c.*4240G>A (n.*4240G>A) c.4764G>A (p.Met1588Ile) n.2796G>A c.1255G>A n.2188G>A c.5127G>A (p.Met1709Ile) c.5124G>A (p.Met1708Ile) c.5016G>A (p.Met1672Ile) c.4995G>A (p.Met1665Ile) c.4341G>A (p.Met1447Ile) c.5289G>A (p.Met1763Ile) c.5037G>A (p.Met1679Ile) c.3783G>A (p.Met1261Ile) | ClinVar dbSNP |
16 | g.2088052G>C | CA394311925 | TSC2 | c.*3422G>C (n.*3422G>C) c.4920G>C (p.Met1640Ile) c.5070G>C (p.Met1690Ile) c.*5586G>C (n.*5586G>C) c.*7822G>C (n.*7822G>C) c.5073G>C (p.Met1691Ile) c.5004G>C (p.Met1668Ile) c.4872G>C (p.Met1624Ile) c.4905G>C (p.Met1635Ile) c.1296G>C n.2955G>C c.3727G>C c.4944G>C (p.Met1648Ile) n.670G>C c.4875G>C (p.Met1625Ile) c.4941G>C (p.Met1647Ile) c.4866G>C (p.Met1622Ile) n.2721G>C c.4998G>C (p.Met1666Ile) c.4869G>C (p.Met1623Ile) c.4994G>C n.3157G>C c.5067G>C (p.Met1689Ile) n.3888G>C n.2325G>C n.2296G>C n.2186G>C c.4728G>C (p.Met1576Ile) c.*4240G>C (n.*4240G>C) c.4764G>C (p.Met1588Ile) n.2796G>C c.1255G>C n.2188G>C c.5127G>C (p.Met1709Ile) c.5124G>C (p.Met1708Ile) c.5016G>C (p.Met1672Ile) c.4995G>C (p.Met1665Ile) c.4341G>C (p.Met1447Ile) c.5289G>C (p.Met1763Ile) c.5037G>C (p.Met1679Ile) c.3783G>C (p.Met1261Ile) | dbSNP |
16 | g.2088052G= | CA2202030252 | TSC2 | c.*3422G= (n.*3422G=) c.4920G= (p.Met1640=) c.5070G= (p.Met1690=) c.*5586G= (n.*5586G=) c.*7822G= (n.*7822G=) c.5073G= (p.Met1691=) c.5004G= (p.Met1668=) c.4872G= (p.Met1624=) c.4905G= (p.Met1635=) c.1296G= n.2955G= c.3727G= c.4944G= (p.Met1648=) n.670G= c.4875G= (p.Met1625=) c.4941G= (p.Met1647=) c.4866G= (p.Met1622=) n.2721G= c.4998G= (p.Met1666=) c.4869G= (p.Met1623=) c.4994G= n.3157G= c.5067G= (p.Met1689=) n.3888G= n.2325G= n.2296G= n.2186G= c.4728G= (p.Met1576=) c.*4240G= (n.*4240G=) c.4764G= (p.Met1588=) n.2796G= c.1255G= n.2188G= c.5127G= (p.Met1709=) c.5124G= (p.Met1708=) c.5016G= (p.Met1672=) c.4995G= (p.Met1665=) c.4341G= (p.Met1447=) c.5289G= (p.Met1763=) c.5037G= (p.Met1679=) c.3783G= (p.Met1261=) | |
16 | g.2088052G>T | CA394311928 | TSC2 | c.*3422G>T (n.*3422G>T) c.4920G>T (p.Met1640Ile) c.5070G>T (p.Met1690Ile) c.*5586G>T (n.*5586G>T) c.*7822G>T (n.*7822G>T) c.5073G>T (p.Met1691Ile) c.5004G>T (p.Met1668Ile) c.4872G>T (p.Met1624Ile) c.4905G>T (p.Met1635Ile) c.1296G>T n.2955G>T c.3727G>T c.4944G>T (p.Met1648Ile) n.670G>T c.4875G>T (p.Met1625Ile) c.4941G>T (p.Met1647Ile) c.4866G>T (p.Met1622Ile) n.2721G>T c.4998G>T (p.Met1666Ile) c.4869G>T (p.Met1623Ile) c.4994G>T n.3157G>T c.5067G>T (p.Met1689Ile) n.3888G>T n.2325G>T n.2296G>T n.2186G>T c.4728G>T (p.Met1576Ile) c.*4240G>T (n.*4240G>T) c.4764G>T (p.Met1588Ile) n.2796G>T c.1255G>T n.2188G>T c.5127G>T (p.Met1709Ile) c.5124G>T (p.Met1708Ile) c.5016G>T (p.Met1672Ile) c.4995G>T (p.Met1665Ile) c.4341G>T (p.Met1447Ile) c.5289G>T (p.Met1763Ile) c.5037G>T (p.Met1679Ile) c.3783G>T (p.Met1261Ile) | dbSNP |
16 | g.2088052_2088053delinsTC | CA2573151969 | TSC2 | c.*3422_*3423delinsTC (n.*3422_*3423delinsTC) c.4920_4921delinsTC (p.Met1640_Glu1641delinsIleGln) c.5070_5071delinsTC (p.Met1690_Glu1691delinsIleGln) c.*5586_*5587delinsTC (n.*5586_*5587delinsTC) c.*7822_*7823delinsTC (n.*7822_*7823delinsTC) c.5073_5074delinsTC (p.Met1691_Glu1692delinsIleGln) c.5004_5005delinsTC (p.Met1668_Glu1669delinsIleGln) c.4872_4873delinsTC (p.Met1624_Glu1625delinsIleGln) c.4905_4906delinsTC (p.Met1635_Glu1636delinsIleGln) c.1296_1297delinsTC n.2955_2956delinsTC c.3727_3728delinsTC c.4944_4945delinsTC (p.Met1648_Glu1649delinsIleGln) n.670_671delinsTC c.4875_4876delinsTC (p.Met1625_Glu1626delinsIleGln) c.4941_4942delinsTC (p.Met1647_Glu1648delinsIleGln) c.4866_4867delinsTC (p.Met1622_Glu1623delinsIleGln) n.2721_2722delinsTC c.4998_4999delinsTC (p.Met1666_Glu1667delinsIleGln) c.4869_4870delinsTC (p.Met1623_Glu1624delinsIleGln) c.4994_4995delinsTC n.3157_3158delinsTC c.5067_5068delinsTC (p.Met1689_Glu1690delinsIleGln) n.3888_3889delinsTC n.2325_2326delinsTC n.2296_2297delinsTC n.2186_2187delinsTC c.4728_4729delinsTC (p.Met1576_Glu1577delinsIleGln) c.*4240_*4241delinsTC (n.*4240_*4241delinsTC) c.4764_4765delinsTC (p.Met1588_Glu1589delinsIleGln) n.2796_2797delinsTC c.1255_1256delinsTC n.2188_2189delinsTC c.5127_5128delinsTC (p.Met1709_Glu1710delinsIleGln) c.5124_5125delinsTC (p.Met1708_Glu1709delinsIleGln) c.5016_5017delinsTC (p.Met1672_Glu1673delinsIleGln) c.4995_4996delinsTC (p.Met1665_Glu1666delinsIleGln) c.4341_4342delinsTC (p.Met1447_Glu1448delinsIleGln) c.5289_5290delinsTC (p.Met1763_Glu1764delinsIleGln) c.5037_5038delinsTC (p.Met1679_Glu1680delinsIleGln) c.3783_3784delinsTC (p.Met1261_Glu1262delinsIleGln) | ClinVar dbSNP |
16 | g.2088053dup | CA1139664249 | TSC2 | c.*3423dup (n.*3423dup) c.4921dup (p.Glu1641GlyfsTer14) c.5071dup (p.Glu1691GlyfsTer14) c.*5587dup (n.*5587dup) c.*7823dup (n.*7823dup) c.5074dup (p.Glu1692GlyfsTer14) c.5005dup (p.Glu1669GlyfsTer14) c.4873dup (p.Glu1625GlyfsTer14) c.4906dup (p.Glu1636GlyfsTer14) c.1297dup n.2956dup c.3728dup c.4945dup (p.Glu1649GlyfsTer14) n.671dup c.4876dup (p.Glu1626GlyfsTer14) c.4942dup (p.Glu1648GlyfsTer14) c.4867dup (p.Glu1623GlyfsTer14) n.2722dup c.4999dup (p.Glu1667GlyfsTer14) c.4870dup (p.Glu1624GlyfsTer14) c.4995dup n.3158dup c.5068dup (p.Glu1690GlyfsTer14) n.3889dup n.2326dup n.2297dup n.2187dup c.4729dup (p.Glu1577GlyfsTer14) c.*4241dup (n.*4241dup) c.4765dup (p.Glu1589GlyfsTer14) n.2797dup c.1256dup n.2189dup c.5128dup (p.Glu1710GlyfsTer14) c.5125dup (p.Glu1709GlyfsTer14) c.5017dup (p.Glu1673GlyfsTer14) c.4996dup (p.Glu1666GlyfsTer14) c.4342dup (p.Glu1448GlyfsTer14) c.5290dup (p.Glu1764GlyfsTer14) c.5038dup (p.Glu1680GlyfsTer14) c.3784dup (p.Glu1262GlyfsTer14) | ClinVar dbSNP |
16 | g.2088054_2088056del | CA2573151968 | TSC2 | c.*3424_*3426del (n.*3424_*3426del) c.4922_4924del (p.Glu1641del) c.5072_5074del (p.Glu1691del) c.*5588_*5590del (n.*5588_*5590del) c.*7824_*7826del (n.*7824_*7826del) c.5075_5077del (p.Glu1692del) c.5006_5008del (p.Glu1669del) c.4874_4876del (p.Glu1625del) c.4907_4909del (p.Glu1636del) c.1298_1300del n.2957_2959del c.3729_3731del c.4946_4948del (p.Glu1649del) n.672_674del c.4877_4879del (p.Glu1626del) c.4943_4945del (p.Glu1648del) c.4868_4870del (p.Glu1623del) n.2723_2725del c.5000_5002del (p.Glu1667del) c.4871_4873del (p.Glu1624del) c.4996_4998del n.3159_3161del c.5069_5071del (p.Glu1690del) n.3890_3892del n.2327_2329del n.2298_2300del n.2188_2190del c.4730_4732del (p.Glu1577del) c.*4242_*4244del (n.*4242_*4244del) c.4766_4768del (p.Glu1589del) n.2798_2800del c.1257_1259del n.2190_2192del c.5129_5131del (p.Glu1710del) c.5126_5128del (p.Glu1709del) c.5018_5020del (p.Glu1673del) c.4997_4999del (p.Glu1666del) c.4343_4345del (p.Glu1448del) c.5291_5293del (p.Glu1764del) c.5039_5041del (p.Glu1680del) c.3785_3787del (p.Glu1262del) | ClinVar dbSNP |
16 | g.2088054_2088057del | CA021674 | TSC2 | c.*3424_*3427del (n.*3424_*3427del) c.4922_4925del (p.Glu1641AlafsTer?) c.5072_5075del (p.Glu1691AlafsTer?) c.*5588_*5591del (n.*5588_*5591del) c.*7824_*7827del (n.*7824_*7827del) c.5075_5078del (p.Glu1692AlafsTer?) c.5006_5009del (p.Glu1669AlafsTer?) c.4874_4877del (p.Glu1625AlafsTer?) c.4907_4910del (p.Glu1636AlafsTer?) c.1298_1301del n.2957_2960del c.3729_3732del c.4946_4949del (p.Glu1649AlafsTer?) n.672_675del c.4877_4880del (p.Glu1626AlafsTer?) c.4943_4946del (p.Glu1648AlafsTer?) c.4868_4871del (p.Glu1623AlafsTer?) n.2723_2726del c.5000_5003del (p.Glu1667AlafsTer?) c.4874_4877del (p.Glu1625AlafsTer29) c.4871_4874del (p.Glu1624AlafsTer?) c.4996_4999del n.3159_3162del c.5069_5072del (p.Glu1690AlafsTer?) n.3890_3893del n.2327_2330del n.2298_2301del n.2188_2191del c.4730_4733del (p.Glu1577AlafsTer?) c.*4242_*4245del (n.*4242_*4245del) c.4766_4769del (p.Glu1589AlafsTer?) n.2798_2801del c.1257_1260del n.2190_2193del c.5129_5132del (p.Glu1710AlafsTer?) c.5126_5129del (p.Glu1709AlafsTer?) c.5018_5021del (p.Glu1673AlafsTer?) c.4997_5000del (p.Glu1666AlafsTer?) c.4343_4346del (p.Glu1448AlafsTer?) c.5291_5294del (p.Glu1764AlafsTer?) c.5039_5042del (p.Glu1680AlafsTer?) c.3785_3788del (p.Glu1262AlafsTer?) | ClinVar dbSNP |
16 | g.2088053G>A | CA394311931 | TSC2 | c.*3423G>A (n.*3423G>A) c.4921G>A (p.Glu1641Lys) c.5071G>A (p.Glu1691Lys) c.*5587G>A (n.*5587G>A) c.*7823G>A (n.*7823G>A) c.5074G>A (p.Glu1692Lys) c.5005G>A (p.Glu1669Lys) c.4873G>A (p.Glu1625Lys) c.4906G>A (p.Glu1636Lys) c.1297G>A n.2956G>A c.3728G>A c.4945G>A (p.Glu1649Lys) n.671G>A c.4876G>A (p.Glu1626Lys) c.4942G>A (p.Glu1648Lys) c.4867G>A (p.Glu1623Lys) n.2722G>A c.4999G>A (p.Glu1667Lys) c.4870G>A (p.Glu1624Lys) c.4995G>A n.3158G>A c.5068G>A (p.Glu1690Lys) n.3889G>A n.2326G>A n.2297G>A n.2187G>A c.4729G>A (p.Glu1577Lys) c.*4241G>A (n.*4241G>A) c.4765G>A (p.Glu1589Lys) n.2797G>A c.1256G>A n.2189G>A c.5128G>A (p.Glu1710Lys) c.5125G>A (p.Glu1709Lys) c.5017G>A (p.Glu1673Lys) c.4996G>A (p.Glu1666Lys) c.4342G>A (p.Glu1448Lys) c.5290G>A (p.Glu1764Lys) c.5038G>A (p.Glu1680Lys) c.3784G>A (p.Glu1262Lys) | dbSNP gnomAD v4 |
16 | g.2088053G>C | CA394311940 | TSC2 | c.*3423G>C (n.*3423G>C) c.4921G>C (p.Glu1641Gln) c.5071G>C (p.Glu1691Gln) c.*5587G>C (n.*5587G>C) c.*7823G>C (n.*7823G>C) c.5074G>C (p.Glu1692Gln) c.5005G>C (p.Glu1669Gln) c.4873G>C (p.Glu1625Gln) c.4906G>C (p.Glu1636Gln) c.1297G>C n.2956G>C c.3728G>C c.4945G>C (p.Glu1649Gln) n.671G>C c.4876G>C (p.Glu1626Gln) c.4942G>C (p.Glu1648Gln) c.4867G>C (p.Glu1623Gln) n.2722G>C c.4999G>C (p.Glu1667Gln) c.4870G>C (p.Glu1624Gln) c.4995G>C n.3158G>C c.5068G>C (p.Glu1690Gln) n.3889G>C n.2326G>C n.2297G>C n.2187G>C c.4729G>C (p.Glu1577Gln) c.*4241G>C (n.*4241G>C) c.4765G>C (p.Glu1589Gln) n.2797G>C c.1256G>C n.2189G>C c.5128G>C (p.Glu1710Gln) c.5125G>C (p.Glu1709Gln) c.5017G>C (p.Glu1673Gln) c.4996G>C (p.Glu1666Gln) c.4342G>C (p.Glu1448Gln) c.5290G>C (p.Glu1764Gln) c.5038G>C (p.Glu1680Gln) c.3784G>C (p.Glu1262Gln) | dbSNP |
16 | g.2088053G>T | CA394311945 | TSC2 | c.*3423G>T (n.*3423G>T) c.4921G>T (p.Glu1641Ter) c.5071G>T (p.Glu1691Ter) c.*5587G>T (n.*5587G>T) c.*7823G>T (n.*7823G>T) c.5074G>T (p.Glu1692Ter) c.5005G>T (p.Glu1669Ter) c.4873G>T (p.Glu1625Ter) c.4906G>T (p.Glu1636Ter) c.1297G>T n.2956G>T c.3728G>T c.4945G>T (p.Glu1649Ter) n.671G>T c.4876G>T (p.Glu1626Ter) c.4942G>T (p.Glu1648Ter) c.4867G>T (p.Glu1623Ter) n.2722G>T c.4999G>T (p.Glu1667Ter) c.4870G>T (p.Glu1624Ter) c.4995G>T n.3158G>T c.5068G>T (p.Glu1690Ter) n.3889G>T n.2326G>T n.2297G>T n.2187G>T c.4729G>T (p.Glu1577Ter) c.*4241G>T (n.*4241G>T) c.4765G>T (p.Glu1589Ter) n.2797G>T c.1256G>T n.2189G>T c.5128G>T (p.Glu1710Ter) c.5125G>T (p.Glu1709Ter) c.5017G>T (p.Glu1673Ter) c.4996G>T (p.Glu1666Ter) c.4342G>T (p.Glu1448Ter) c.5290G>T (p.Glu1764Ter) c.5038G>T (p.Glu1680Ter) c.3784G>T (p.Glu1262Ter) | dbSNP |
16 | g.2088055_2088083del | CA2499223351 | TSC2 | c.*3425_*3453del (n.*3425_*3453del) c.4923_4951del (p.Glu1641AspfsTer4) c.5073_5101del (p.Glu1691AspfsTer4) c.*5589_*5617del (n.*5589_*5617del) c.*7825_*7853del (n.*7825_*7853del) c.5076_5104del (p.Glu1692AspfsTer4) c.5007_5035del (p.Glu1669AspfsTer4) c.4875_4903del (p.Glu1625AspfsTer4) c.4908_4936del (p.Glu1636AspfsTer4) c.1299_1327del n.2958_2986del c.3730_3758del c.4947_4975del (p.Glu1649AspfsTer4) n.673_701del c.4878_4906del (p.Glu1626AspfsTer4) c.4944_4972del (p.Glu1648AspfsTer4) c.4869_4897del (p.Glu1623AspfsTer4) n.2724_2752del c.5001_5029del (p.Glu1667AspfsTer4) c.4872_4900del (p.Glu1624AspfsTer4) c.4997_5025del n.3160_3188del c.5070_5098del (p.Glu1690AspfsTer4) n.3891_3919del n.2328_2356del n.2299_2327del n.2189_2217del c.4731_4759del (p.Glu1577AspfsTer4) c.*4243_*4271del (n.*4243_*4271del) c.4767_4795del (p.Glu1589AspfsTer4) n.2799_2827del c.1258_1286del n.2191_2219del c.5130_5158del (p.Glu1710AspfsTer4) c.5127_5155del (p.Glu1709AspfsTer4) c.5019_5047del (p.Glu1673AspfsTer4) c.4998_5026del (p.Glu1666AspfsTer4) c.4344_4372del (p.Glu1448AspfsTer4) c.5292_5320del (p.Glu1764AspfsTer4) c.5040_5068del (p.Glu1680AspfsTer4) c.3786_3814del (p.Glu1262AspfsTer4) | ClinVar dbSNP |
16 | g.2088054A= | CA2202030260 | TSC2 | c.*3424A= (n.*3424A=) c.4922A= (p.Glu1641=) c.5072A= (p.Glu1691=) c.*5588A= (n.*5588A=) c.*7824A= (n.*7824A=) c.5075A= (p.Glu1692=) c.5006A= (p.Glu1669=) c.4874A= (p.Glu1625=) c.4907A= (p.Glu1636=) c.1298A= n.2957A= c.3729A= c.4946A= (p.Glu1649=) n.672A= c.4877A= (p.Glu1626=) c.4943A= (p.Glu1648=) c.4868A= (p.Glu1623=) n.2723A= c.5000A= (p.Glu1667=) c.4871A= (p.Glu1624=) c.4996A= n.3159A= c.5069A= (p.Glu1690=) n.3890A= n.2327A= n.2298A= n.2188A= c.4730A= (p.Glu1577=) c.*4242A= (n.*4242A=) c.4766A= (p.Glu1589=) n.2798A= c.1257A= n.2190A= c.5129A= (p.Glu1710=) c.5126A= (p.Glu1709=) c.5018A= (p.Glu1673=) c.4997A= (p.Glu1666=) c.4343A= (p.Glu1448=) c.5291A= (p.Glu1764=) c.5039A= (p.Glu1680=) c.3785A= (p.Glu1262=) | |
16 | g.2088054A>C | CA394311949 | TSC2 | c.*3424A>C (n.*3424A>C) c.4922A>C (p.Glu1641Ala) c.5072A>C (p.Glu1691Ala) c.*5588A>C (n.*5588A>C) c.*7824A>C (n.*7824A>C) c.5075A>C (p.Glu1692Ala) c.5006A>C (p.Glu1669Ala) c.4874A>C (p.Glu1625Ala) c.4907A>C (p.Glu1636Ala) c.1298A>C n.2957A>C c.3729A>C c.4946A>C (p.Glu1649Ala) n.672A>C c.4877A>C (p.Glu1626Ala) c.4943A>C (p.Glu1648Ala) c.4868A>C (p.Glu1623Ala) n.2723A>C c.5000A>C (p.Glu1667Ala) c.4871A>C (p.Glu1624Ala) c.4996A>C n.3159A>C c.5069A>C (p.Glu1690Ala) n.3890A>C n.2327A>C n.2298A>C n.2188A>C c.4730A>C (p.Glu1577Ala) c.*4242A>C (n.*4242A>C) c.4766A>C (p.Glu1589Ala) n.2798A>C c.1257A>C n.2190A>C c.5129A>C (p.Glu1710Ala) c.5126A>C (p.Glu1709Ala) c.5018A>C (p.Glu1673Ala) c.4997A>C (p.Glu1666Ala) c.4343A>C (p.Glu1448Ala) c.5291A>C (p.Glu1764Ala) c.5039A>C (p.Glu1680Ala) c.3785A>C (p.Glu1262Ala) | |
16 | g.2088054A>G | CA276758823 | TSC2 | c.*3424A>G (n.*3424A>G) c.4922A>G (p.Glu1641Gly) c.5072A>G (p.Glu1691Gly) c.*5588A>G (n.*5588A>G) c.*7824A>G (n.*7824A>G) c.5075A>G (p.Glu1692Gly) c.5006A>G (p.Glu1669Gly) c.4874A>G (p.Glu1625Gly) c.4907A>G (p.Glu1636Gly) c.1298A>G n.2957A>G c.3729A>G c.4946A>G (p.Glu1649Gly) n.672A>G c.4877A>G (p.Glu1626Gly) c.4943A>G (p.Glu1648Gly) c.4868A>G (p.Glu1623Gly) n.2723A>G c.5000A>G (p.Glu1667Gly) c.4871A>G (p.Glu1624Gly) c.4996A>G n.3159A>G c.5069A>G (p.Glu1690Gly) n.3890A>G n.2327A>G n.2298A>G n.2188A>G c.4730A>G (p.Glu1577Gly) c.*4242A>G (n.*4242A>G) c.4766A>G (p.Glu1589Gly) n.2798A>G c.1257A>G n.2190A>G c.5129A>G (p.Glu1710Gly) c.5126A>G (p.Glu1709Gly) c.5018A>G (p.Glu1673Gly) c.4997A>G (p.Glu1666Gly) c.4343A>G (p.Glu1448Gly) c.5291A>G (p.Glu1764Gly) c.5039A>G (p.Glu1680Gly) c.3785A>G (p.Glu1262Gly) | ClinVar dbSNP |
16 | g.2088054A>T | CA394311950 | TSC2 | c.*3424A>T (n.*3424A>T) c.4922A>T (p.Glu1641Val) c.5072A>T (p.Glu1691Val) c.*5588A>T (n.*5588A>T) c.*7824A>T (n.*7824A>T) c.5075A>T (p.Glu1692Val) c.5006A>T (p.Glu1669Val) c.4874A>T (p.Glu1625Val) c.4907A>T (p.Glu1636Val) c.1298A>T n.2957A>T c.3729A>T c.4946A>T (p.Glu1649Val) n.672A>T c.4877A>T (p.Glu1626Val) c.4943A>T (p.Glu1648Val) c.4868A>T (p.Glu1623Val) n.2723A>T c.5000A>T (p.Glu1667Val) c.4871A>T (p.Glu1624Val) c.4996A>T n.3159A>T c.5069A>T (p.Glu1690Val) n.3890A>T n.2327A>T n.2298A>T n.2188A>T c.4730A>T (p.Glu1577Val) c.*4242A>T (n.*4242A>T) c.4766A>T (p.Glu1589Val) n.2798A>T c.1257A>T n.2190A>T c.5129A>T (p.Glu1710Val) c.5126A>T (p.Glu1709Val) c.5018A>T (p.Glu1673Val) c.4997A>T (p.Glu1666Val) c.4343A>T (p.Glu1448Val) c.5291A>T (p.Glu1764Val) c.5039A>T (p.Glu1680Val) c.3785A>T (p.Glu1262Val) | dbSNP gnomAD v4 |
16 | g.2088054_2088055delinsAG | CA2202030268 | TSC2 | c.*3424_*3425delinsAG (n.*3424_*3425delinsAG) c.4922_4923delinsAG (p.Glu1641=) c.5072_5073delinsAG (p.Glu1691=) c.*5588_*5589delinsAG (n.*5588_*5589delinsAG) c.*7824_*7825delinsAG (n.*7824_*7825delinsAG) c.5075_5076delinsAG (p.Glu1692=) c.5006_5007delinsAG (p.Glu1669=) c.4874_4875delinsAG (p.Glu1625=) c.4907_4908delinsAG (p.Glu1636=) c.1298_1299delinsAG n.2957_2958delinsAG c.3729_3730delinsAG c.4946_4947delinsAG (p.Glu1649=) n.672_673delinsAG c.4877_4878delinsAG (p.Glu1626=) c.4943_4944delinsAG (p.Glu1648=) c.4868_4869delinsAG (p.Glu1623=) n.2723_2724delinsAG c.5000_5001delinsAG (p.Glu1667=) c.4871_4872delinsAG (p.Glu1624=) c.4996_4997delinsAG n.3159_3160delinsAG c.5069_5070delinsAG (p.Glu1690=) n.3890_3891delinsAG n.2327_2328delinsAG n.2298_2299delinsAG n.2188_2189delinsAG c.4730_4731delinsAG (p.Glu1577=) c.*4242_*4243delinsAG (n.*4242_*4243delinsAG) c.4766_4767delinsAG (p.Glu1589=) n.2798_2799delinsAG c.1257_1258delinsAG n.2190_2191delinsAG c.5129_5130delinsAG (p.Glu1710=) c.5126_5127delinsAG (p.Glu1709=) c.5018_5019delinsAG (p.Glu1673=) c.4997_4998delinsAG (p.Glu1666=) c.4343_4344delinsAG (p.Glu1448=) c.5291_5292delinsAG (p.Glu1764=) c.5039_5040delinsAG (p.Glu1680=) c.3785_3786delinsAG (p.Glu1262=) | |
16 | g.2088055G>A | CA493043630 | TSC2 | c.*3425G>A (n.*3425G>A) c.4923G>A (p.Glu1641=) c.5073G>A (p.Glu1691=) c.*5589G>A (n.*5589G>A) c.*7825G>A (n.*7825G>A) c.5076G>A (p.Glu1692=) c.5007G>A (p.Glu1669=) c.4875G>A (p.Glu1625=) c.4908G>A (p.Glu1636=) c.1299G>A n.2958G>A c.3730G>A c.4947G>A (p.Glu1649=) n.673G>A c.4878G>A (p.Glu1626=) c.4944G>A (p.Glu1648=) c.4869G>A (p.Glu1623=) n.2724G>A c.5001G>A (p.Glu1667=) c.4872G>A (p.Glu1624=) c.4997G>A n.3160G>A c.5070G>A (p.Glu1690=) n.3891G>A n.2328G>A n.2299G>A n.2189G>A c.4731G>A (p.Glu1577=) c.*4243G>A (n.*4243G>A) c.4767G>A (p.Glu1589=) n.2799G>A c.1258G>A n.2191G>A c.5130G>A (p.Glu1710=) c.5127G>A (p.Glu1709=) c.5019G>A (p.Glu1673=) c.4998G>A (p.Glu1666=) c.4344G>A (p.Glu1448=) c.5292G>A (p.Glu1764=) c.5040G>A (p.Glu1680=) c.3786G>A (p.Glu1262=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088055G>C | CA394311952 | TSC2 | c.*3425G>C (n.*3425G>C) c.4923G>C (p.Glu1641Asp) c.5073G>C (p.Glu1691Asp) c.*5589G>C (n.*5589G>C) c.*7825G>C (n.*7825G>C) c.5076G>C (p.Glu1692Asp) c.5007G>C (p.Glu1669Asp) c.4875G>C (p.Glu1625Asp) c.4908G>C (p.Glu1636Asp) c.1299G>C n.2958G>C c.3730G>C c.4947G>C (p.Glu1649Asp) n.673G>C c.4878G>C (p.Glu1626Asp) c.4944G>C (p.Glu1648Asp) c.4869G>C (p.Glu1623Asp) n.2724G>C c.5001G>C (p.Glu1667Asp) c.4872G>C (p.Glu1624Asp) c.4997G>C n.3160G>C c.5070G>C (p.Glu1690Asp) n.3891G>C n.2328G>C n.2299G>C n.2189G>C c.4731G>C (p.Glu1577Asp) c.*4243G>C (n.*4243G>C) c.4767G>C (p.Glu1589Asp) n.2799G>C c.1258G>C n.2191G>C c.5130G>C (p.Glu1710Asp) c.5127G>C (p.Glu1709Asp) c.5019G>C (p.Glu1673Asp) c.4998G>C (p.Glu1666Asp) c.4344G>C (p.Glu1448Asp) c.5292G>C (p.Glu1764Asp) c.5040G>C (p.Glu1680Asp) c.3786G>C (p.Glu1262Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088055G= | CA2202030275 | TSC2 | c.*3425G= (n.*3425G=) c.4923G= (p.Glu1641=) c.5073G= (p.Glu1691=) c.*5589G= (n.*5589G=) c.*7825G= (n.*7825G=) c.5076G= (p.Glu1692=) c.5007G= (p.Glu1669=) c.4875G= (p.Glu1625=) c.4908G= (p.Glu1636=) c.1299G= n.2958G= c.3730G= c.4947G= (p.Glu1649=) n.673G= c.4878G= (p.Glu1626=) c.4944G= (p.Glu1648=) c.4869G= (p.Glu1623=) n.2724G= c.5001G= (p.Glu1667=) c.4872G= (p.Glu1624=) c.4997G= n.3160G= c.5070G= (p.Glu1690=) n.3891G= n.2328G= n.2299G= n.2189G= c.4731G= (p.Glu1577=) c.*4243G= (n.*4243G=) c.4767G= (p.Glu1589=) n.2799G= c.1258G= n.2191G= c.5130G= (p.Glu1710=) c.5127G= (p.Glu1709=) c.5019G= (p.Glu1673=) c.4998G= (p.Glu1666=) c.4344G= (p.Glu1448=) c.5292G= (p.Glu1764=) c.5040G= (p.Glu1680=) c.3786G= (p.Glu1262=) | |
16 | g.2088055G>T | CA394311954 | TSC2 | c.*3425G>T (n.*3425G>T) c.4923G>T (p.Glu1641Asp) c.5073G>T (p.Glu1691Asp) c.*5589G>T (n.*5589G>T) c.*7825G>T (n.*7825G>T) c.5076G>T (p.Glu1692Asp) c.5007G>T (p.Glu1669Asp) c.4875G>T (p.Glu1625Asp) c.4908G>T (p.Glu1636Asp) c.1299G>T n.2958G>T c.3730G>T c.4947G>T (p.Glu1649Asp) n.673G>T c.4878G>T (p.Glu1626Asp) c.4944G>T (p.Glu1648Asp) c.4869G>T (p.Glu1623Asp) n.2724G>T c.5001G>T (p.Glu1667Asp) c.4872G>T (p.Glu1624Asp) c.4997G>T n.3160G>T c.5070G>T (p.Glu1690Asp) n.3891G>T n.2328G>T n.2299G>T n.2189G>T c.4731G>T (p.Glu1577Asp) c.*4243G>T (n.*4243G>T) c.4767G>T (p.Glu1589Asp) n.2799G>T c.1258G>T n.2191G>T c.5130G>T (p.Glu1710Asp) c.5127G>T (p.Glu1709Asp) c.5019G>T (p.Glu1673Asp) c.4998G>T (p.Glu1666Asp) c.4344G>T (p.Glu1448Asp) c.5292G>T (p.Glu1764Asp) c.5040G>T (p.Glu1680Asp) c.3786G>T (p.Glu1262Asp) | |
16 | g.2088057del | CA658656632 | TSC2 | c.*3427del (n.*3427del) c.4925del (p.Gly1642AlafsTer?) c.5075del (p.Gly1692AlafsTer?) c.*5591del (n.*5591del) c.*7827del (n.*7827del) c.5078del (p.Gly1693AlafsTer?) c.5009del (p.Gly1670AlafsTer?) c.4877del (p.Gly1626AlafsTer?) c.4910del (p.Gly1637AlafsTer?) c.1301del n.2960del c.3732del c.4949del (p.Gly1650AlafsTer?) n.675del c.4880del (p.Gly1627AlafsTer?) c.4946del (p.Gly1649AlafsTer?) c.4871del (p.Gly1624AlafsTer?) n.2726del c.5003del (p.Gly1668AlafsTer?) c.4877del (p.Gly1626AlafsTer29) c.4874del (p.Gly1625AlafsTer?) c.4999del n.3162del c.5072del (p.Gly1691AlafsTer?) n.3893del n.2330del n.2301del n.2191del c.4733del (p.Gly1578AlafsTer?) c.*4245del (n.*4245del) c.4769del (p.Gly1590AlafsTer?) n.2801del c.1260del n.2193del c.5132del (p.Gly1711AlafsTer?) c.5129del (p.Gly1710AlafsTer?) c.5021del (p.Gly1674AlafsTer?) c.5000del (p.Gly1667AlafsTer?) c.4346del (p.Gly1449AlafsTer?) c.5294del (p.Gly1765AlafsTer?) c.5042del (p.Gly1681AlafsTer?) c.3788del (p.Gly1263AlafsTer?) | ClinVar dbSNP |
16 | g.2088056G>A | CA394311966 | TSC2 | c.*3426G>A (n.*3426G>A) c.4924G>A (p.Gly1642Ser) c.5074G>A (p.Gly1692Ser) c.*5590G>A (n.*5590G>A) c.*7826G>A (n.*7826G>A) c.5077G>A (p.Gly1693Ser) c.5008G>A (p.Gly1670Ser) c.4876G>A (p.Gly1626Ser) c.4909G>A (p.Gly1637Ser) c.1300G>A n.2959G>A c.3731G>A c.4948G>A (p.Gly1650Ser) n.674G>A c.4879G>A (p.Gly1627Ser) c.4945G>A (p.Gly1649Ser) c.4870G>A (p.Gly1624Ser) n.2725G>A c.5002G>A (p.Gly1668Ser) c.4873G>A (p.Gly1625Ser) c.4998G>A n.3161G>A c.5071G>A (p.Gly1691Ser) n.3892G>A n.2329G>A n.2300G>A n.2190G>A c.4732G>A (p.Gly1578Ser) c.*4244G>A (n.*4244G>A) c.4768G>A (p.Gly1590Ser) n.2800G>A c.1259G>A n.2192G>A c.5131G>A (p.Gly1711Ser) c.5128G>A (p.Gly1710Ser) c.5020G>A (p.Gly1674Ser) c.4999G>A (p.Gly1667Ser) c.4345G>A (p.Gly1449Ser) c.5293G>A (p.Gly1765Ser) c.5041G>A (p.Gly1681Ser) c.3787G>A (p.Gly1263Ser) | ClinVar dbSNP |
16 | g.2088056G>C | CA394311970 | TSC2 | c.*3426G>C (n.*3426G>C) c.4924G>C (p.Gly1642Arg) c.5074G>C (p.Gly1692Arg) c.*5590G>C (n.*5590G>C) c.*7826G>C (n.*7826G>C) c.5077G>C (p.Gly1693Arg) c.5008G>C (p.Gly1670Arg) c.4876G>C (p.Gly1626Arg) c.4909G>C (p.Gly1637Arg) c.1300G>C n.2959G>C c.3731G>C c.4948G>C (p.Gly1650Arg) n.674G>C c.4879G>C (p.Gly1627Arg) c.4945G>C (p.Gly1649Arg) c.4870G>C (p.Gly1624Arg) n.2725G>C c.5002G>C (p.Gly1668Arg) c.4873G>C (p.Gly1625Arg) c.4998G>C n.3161G>C c.5071G>C (p.Gly1691Arg) n.3892G>C n.2329G>C n.2300G>C n.2190G>C c.4732G>C (p.Gly1578Arg) c.*4244G>C (n.*4244G>C) c.4768G>C (p.Gly1590Arg) n.2800G>C c.1259G>C n.2192G>C c.5131G>C (p.Gly1711Arg) c.5128G>C (p.Gly1710Arg) c.5020G>C (p.Gly1674Arg) c.4999G>C (p.Gly1667Arg) c.4345G>C (p.Gly1449Arg) c.5293G>C (p.Gly1765Arg) c.5041G>C (p.Gly1681Arg) c.3787G>C (p.Gly1263Arg) | dbSNP |
16 | g.2088056G= | CA2202030280 | TSC2 | c.*3426G= (n.*3426G=) c.4924G= (p.Gly1642=) c.5074G= (p.Gly1692=) c.*5590G= (n.*5590G=) c.*7826G= (n.*7826G=) c.5077G= (p.Gly1693=) c.5008G= (p.Gly1670=) c.4876G= (p.Gly1626=) c.4909G= (p.Gly1637=) c.1300G= n.2959G= c.3731G= c.4948G= (p.Gly1650=) n.674G= c.4879G= (p.Gly1627=) c.4945G= (p.Gly1649=) c.4870G= (p.Gly1624=) n.2725G= c.5002G= (p.Gly1668=) c.4873G= (p.Gly1625=) c.4998G= n.3161G= c.5071G= (p.Gly1691=) n.3892G= n.2329G= n.2300G= n.2190G= c.4732G= (p.Gly1578=) c.*4244G= (n.*4244G=) c.4768G= (p.Gly1590=) n.2800G= c.1259G= n.2192G= c.5131G= (p.Gly1711=) c.5128G= (p.Gly1710=) c.5020G= (p.Gly1674=) c.4999G= (p.Gly1667=) c.4345G= (p.Gly1449=) c.5293G= (p.Gly1765=) c.5041G= (p.Gly1681=) c.3787G= (p.Gly1263=) | |
16 | g.2088056G>T | CA394311971 | TSC2 | c.*3426G>T (n.*3426G>T) c.4924G>T (p.Gly1642Cys) c.5074G>T (p.Gly1692Cys) c.*5590G>T (n.*5590G>T) c.*7826G>T (n.*7826G>T) c.5077G>T (p.Gly1693Cys) c.5008G>T (p.Gly1670Cys) c.4876G>T (p.Gly1626Cys) c.4909G>T (p.Gly1637Cys) c.1300G>T n.2959G>T c.3731G>T c.4948G>T (p.Gly1650Cys) n.674G>T c.4879G>T (p.Gly1627Cys) c.4945G>T (p.Gly1649Cys) c.4870G>T (p.Gly1624Cys) n.2725G>T c.5002G>T (p.Gly1668Cys) c.4873G>T (p.Gly1625Cys) c.4998G>T n.3161G>T c.5071G>T (p.Gly1691Cys) n.3892G>T n.2329G>T n.2300G>T n.2190G>T c.4732G>T (p.Gly1578Cys) c.*4244G>T (n.*4244G>T) c.4768G>T (p.Gly1590Cys) n.2800G>T c.1259G>T n.2192G>T c.5131G>T (p.Gly1711Cys) c.5128G>T (p.Gly1710Cys) c.5020G>T (p.Gly1674Cys) c.4999G>T (p.Gly1667Cys) c.4345G>T (p.Gly1449Cys) c.5293G>T (p.Gly1765Cys) c.5041G>T (p.Gly1681Cys) c.3787G>T (p.Gly1263Cys) | dbSNP |
16 | g.2088056_2088060delinsGGCCT | CA2202030281 | TSC2 | c.*3426_*3430delinsGGCCT (n.*3426_*3430delinsGGCCT) c.4924_4928delinsGGCCT (p.Gly1642=) c.5074_5078delinsGGCCT (p.Gly1692=) c.*5590_*5594delinsGGCCT (n.*5590_*5594delinsGGCCT) c.*7826_*7830delinsGGCCT (n.*7826_*7830delinsGGCCT) c.5077_5081delinsGGCCT (p.Gly1693=) c.5008_5012delinsGGCCT (p.Gly1670=) c.4876_4880delinsGGCCT (p.Gly1626=) c.4909_4913delinsGGCCT (p.Gly1637=) c.1300_1304delinsGGCCT n.2959_2963delinsGGCCT c.3731_3735delinsGGCCT c.4948_4952delinsGGCCT (p.Gly1650=) n.674_678delinsGGCCT c.4879_4883delinsGGCCT (p.Gly1627=) c.4945_4949delinsGGCCT (p.Gly1649=) c.4870_4874delinsGGCCT (p.Gly1624=) n.2725_2729delinsGGCCT c.5002_5006delinsGGCCT (p.Gly1668=) c.4873_4877delinsGGCCT (p.Gly1625=) c.4998_5002delinsGGCCT n.3161_3165delinsGGCCT c.5071_5075delinsGGCCT (p.Gly1691=) n.3892_3896delinsGGCCT n.2329_2333delinsGGCCT n.2300_2304delinsGGCCT n.2190_2194delinsGGCCT c.4732_4736delinsGGCCT (p.Gly1578=) c.*4244_*4248delinsGGCCT (n.*4244_*4248delinsGGCCT) c.4768_4772delinsGGCCT (p.Gly1590=) n.2800_2804delinsGGCCT c.1259_1263delinsGGCCT n.2192_2196delinsGGCCT c.5131_5135delinsGGCCT (p.Gly1711=) c.5128_5132delinsGGCCT (p.Gly1710=) c.5020_5024delinsGGCCT (p.Gly1674=) c.4999_5003delinsGGCCT (p.Gly1667=) c.4345_4349delinsGGCCT (p.Gly1449=) c.5293_5297delinsGGCCT (p.Gly1765=) c.5041_5045delinsGGCCT (p.Gly1681=) c.3787_3791delinsGGCCT (p.Gly1263=) | |
16 | g.2088060_2088079del | CA2695221733 | TSC2 | c.*3430_*3449del (n.*3430_*3449del) c.4928_4947del (p.Leu1643GlnfsTer5) c.5078_5097del (p.Leu1693GlnfsTer5) c.*5594_*5613del (n.*5594_*5613del) c.*7830_*7849del (n.*7830_*7849del) c.5081_5100del (p.Leu1694GlnfsTer5) c.5012_5031del (p.Leu1671GlnfsTer5) c.4880_4899del (p.Leu1627GlnfsTer5) c.4913_4932del (p.Leu1638GlnfsTer5) c.1304_1323del n.2963_2982del c.3735_3754del c.4952_4971del (p.Leu1651GlnfsTer5) n.678_697del c.4883_4902del (p.Leu1628GlnfsTer5) c.4949_4968del (p.Leu1650GlnfsTer5) c.4874_4893del (p.Leu1625GlnfsTer5) n.2729_2748del c.5006_5025del (p.Leu1669GlnfsTer5) c.4877_4896del (p.Leu1626GlnfsTer5) c.5002_5021del n.3165_3184del c.5075_5094del (p.Leu1692GlnfsTer5) n.3896_3915del n.2333_2352del n.2304_2323del n.2194_2213del c.4736_4755del (p.Leu1579GlnfsTer5) c.*4248_*4267del (n.*4248_*4267del) c.4772_4791del (p.Leu1591GlnfsTer5) n.2804_2823del c.1263_1282del n.2196_2215del c.5135_5154del (p.Leu1712GlnfsTer5) c.5132_5151del (p.Leu1711GlnfsTer5) c.5024_5043del (p.Leu1675GlnfsTer5) c.5003_5022del (p.Leu1668GlnfsTer5) c.4349_4368del (p.Leu1450GlnfsTer5) c.5297_5316del (p.Leu1766GlnfsTer5) c.5045_5064del (p.Leu1682GlnfsTer5) c.3791_3810del (p.Leu1264GlnfsTer5) | |
16 | g.2088057G>A | CA394311984 | TSC2 | c.*3427G>A (n.*3427G>A) c.4925G>A (p.Gly1642Asp) c.5075G>A (p.Gly1692Asp) c.*5591G>A (n.*5591G>A) c.*7827G>A (n.*7827G>A) c.5078G>A (p.Gly1693Asp) c.5009G>A (p.Gly1670Asp) c.4877G>A (p.Gly1626Asp) c.4910G>A (p.Gly1637Asp) c.1301G>A n.2960G>A c.3732G>A c.4949G>A (p.Gly1650Asp) n.675G>A c.4880G>A (p.Gly1627Asp) c.4946G>A (p.Gly1649Asp) c.4871G>A (p.Gly1624Asp) n.2726G>A c.5003G>A (p.Gly1668Asp) c.4874G>A (p.Gly1625Asp) c.4999G>A n.3162G>A c.5072G>A (p.Gly1691Asp) n.3893G>A n.2330G>A n.2301G>A n.2191G>A c.4733G>A (p.Gly1578Asp) c.*4245G>A (n.*4245G>A) c.4769G>A (p.Gly1590Asp) n.2801G>A c.1260G>A n.2193G>A c.5132G>A (p.Gly1711Asp) c.5129G>A (p.Gly1710Asp) c.5021G>A (p.Gly1674Asp) c.5000G>A (p.Gly1667Asp) c.4346G>A (p.Gly1449Asp) c.5294G>A (p.Gly1765Asp) c.5042G>A (p.Gly1681Asp) c.3788G>A (p.Gly1263Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088057G>C | CA394311972 | TSC2 | c.*3427G>C (n.*3427G>C) c.4925G>C (p.Gly1642Ala) c.5075G>C (p.Gly1692Ala) c.*5591G>C (n.*5591G>C) c.*7827G>C (n.*7827G>C) c.5078G>C (p.Gly1693Ala) c.5009G>C (p.Gly1670Ala) c.4877G>C (p.Gly1626Ala) c.4910G>C (p.Gly1637Ala) c.1301G>C n.2960G>C c.3732G>C c.4949G>C (p.Gly1650Ala) n.675G>C c.4880G>C (p.Gly1627Ala) c.4946G>C (p.Gly1649Ala) c.4871G>C (p.Gly1624Ala) n.2726G>C c.5003G>C (p.Gly1668Ala) c.4874G>C (p.Gly1625Ala) c.4999G>C n.3162G>C c.5072G>C (p.Gly1691Ala) n.3893G>C n.2330G>C n.2301G>C n.2191G>C c.4733G>C (p.Gly1578Ala) c.*4245G>C (n.*4245G>C) c.4769G>C (p.Gly1590Ala) n.2801G>C c.1260G>C n.2193G>C c.5132G>C (p.Gly1711Ala) c.5129G>C (p.Gly1710Ala) c.5021G>C (p.Gly1674Ala) c.5000G>C (p.Gly1667Ala) c.4346G>C (p.Gly1449Ala) c.5294G>C (p.Gly1765Ala) c.5042G>C (p.Gly1681Ala) c.3788G>C (p.Gly1263Ala) | dbSNP |
16 | g.2088057G= | CA2202030286 | TSC2 | c.*3427G= (n.*3427G=) c.4925G= (p.Gly1642=) c.5075G= (p.Gly1692=) c.*5591G= (n.*5591G=) c.*7827G= (n.*7827G=) c.5078G= (p.Gly1693=) c.5009G= (p.Gly1670=) c.4877G= (p.Gly1626=) c.4910G= (p.Gly1637=) c.1301G= n.2960G= c.3732G= c.4949G= (p.Gly1650=) n.675G= c.4880G= (p.Gly1627=) c.4946G= (p.Gly1649=) c.4871G= (p.Gly1624=) n.2726G= c.5003G= (p.Gly1668=) c.4874G= (p.Gly1625=) c.4999G= n.3162G= c.5072G= (p.Gly1691=) n.3893G= n.2330G= n.2301G= n.2191G= c.4733G= (p.Gly1578=) c.*4245G= (n.*4245G=) c.4769G= (p.Gly1590=) n.2801G= c.1260G= n.2193G= c.5132G= (p.Gly1711=) c.5129G= (p.Gly1710=) c.5021G= (p.Gly1674=) c.5000G= (p.Gly1667=) c.4346G= (p.Gly1449=) c.5294G= (p.Gly1765=) c.5042G= (p.Gly1681=) c.3788G= (p.Gly1263=) | |
16 | g.2088057G>T | CA394311981 | TSC2 | c.*3427G>T (n.*3427G>T) c.4925G>T (p.Gly1642Val) c.5075G>T (p.Gly1692Val) c.*5591G>T (n.*5591G>T) c.*7827G>T (n.*7827G>T) c.5078G>T (p.Gly1693Val) c.5009G>T (p.Gly1670Val) c.4877G>T (p.Gly1626Val) c.4910G>T (p.Gly1637Val) c.1301G>T n.2960G>T c.3732G>T c.4949G>T (p.Gly1650Val) n.675G>T c.4880G>T (p.Gly1627Val) c.4946G>T (p.Gly1649Val) c.4871G>T (p.Gly1624Val) n.2726G>T c.5003G>T (p.Gly1668Val) c.4874G>T (p.Gly1625Val) c.4999G>T n.3162G>T c.5072G>T (p.Gly1691Val) n.3893G>T n.2330G>T n.2301G>T n.2191G>T c.4733G>T (p.Gly1578Val) c.*4245G>T (n.*4245G>T) c.4769G>T (p.Gly1590Val) n.2801G>T c.1260G>T n.2193G>T c.5132G>T (p.Gly1711Val) c.5129G>T (p.Gly1710Val) c.5021G>T (p.Gly1674Val) c.5000G>T (p.Gly1667Val) c.4346G>T (p.Gly1449Val) c.5294G>T (p.Gly1765Val) c.5042G>T (p.Gly1681Val) c.3788G>T (p.Gly1263Val) | dbSNP |
16 | g.2088057_2088060del | CA021684 | TSC2 | c.*3427_*3430del (n.*3427_*3430del) c.4925_4928del (p.Gly1642ValfsTer?) c.5075_5078del (p.Gly1692ValfsTer?) c.*5591_*5594del (n.*5591_*5594del) c.*7827_*7830del (n.*7827_*7830del) c.5078_5081del (p.Gly1693ValfsTer?) c.5009_5012del (p.Gly1670ValfsTer?) c.4877_4880del (p.Gly1626ValfsTer?) c.4910_4913del (p.Gly1637ValfsTer?) c.1301_1304del n.2960_2963del c.3732_3735del c.4949_4952del (p.Gly1650ValfsTer?) n.675_678del c.4880_4883del (p.Gly1627ValfsTer?) c.4946_4949del (p.Gly1649ValfsTer?) c.4871_4874del (p.Gly1624ValfsTer?) n.2726_2729del c.5003_5006del (p.Gly1668ValfsTer?) c.4877_4880del (p.Gly1626ValfsTer28) c.4874_4877del (p.Gly1625ValfsTer?) c.4999_5002del n.3162_3165del c.5072_5075del (p.Gly1691ValfsTer?) n.3893_3896del n.2330_2333del n.2301_2304del n.2191_2194del c.4733_4736del (p.Gly1578ValfsTer?) c.*4245_*4248del (n.*4245_*4248del) c.4769_4772del (p.Gly1590ValfsTer?) n.2801_2804del c.1260_1263del n.2193_2196del c.5132_5135del (p.Gly1711ValfsTer?) c.5129_5132del (p.Gly1710ValfsTer?) c.5021_5024del (p.Gly1674ValfsTer?) c.5000_5003del (p.Gly1667ValfsTer?) c.4346_4349del (p.Gly1449ValfsTer?) c.5294_5297del (p.Gly1765ValfsTer?) c.5042_5045del (p.Gly1681ValfsTer?) c.3788_3791del (p.Gly1263ValfsTer?) | ClinVar dbSNP |
16 | g.2088058C>A | CA493043633 | TSC2 | c.*3428C>A (n.*3428C>A) c.4926C>A (p.Gly1642=) c.5076C>A (p.Gly1692=) c.*5592C>A (n.*5592C>A) c.*7828C>A (n.*7828C>A) c.5079C>A (p.Gly1693=) c.5010C>A (p.Gly1670=) c.4878C>A (p.Gly1626=) c.4911C>A (p.Gly1637=) c.1302C>A n.2961C>A c.3733C>A c.4950C>A (p.Gly1650=) n.676C>A c.4881C>A (p.Gly1627=) c.4947C>A (p.Gly1649=) c.4872C>A (p.Gly1624=) n.2727C>A c.5004C>A (p.Gly1668=) c.4875C>A (p.Gly1625=) c.5000C>A n.3163C>A c.5073C>A (p.Gly1691=) n.3894C>A n.2331C>A n.2302C>A n.2192C>A c.4734C>A (p.Gly1578=) c.*4246C>A (n.*4246C>A) c.4770C>A (p.Gly1590=) n.2802C>A c.1261C>A n.2194C>A c.5133C>A (p.Gly1711=) c.5130C>A (p.Gly1710=) c.5022C>A (p.Gly1674=) c.5001C>A (p.Gly1667=) c.4347C>A (p.Gly1449=) c.5295C>A (p.Gly1765=) c.5043C>A (p.Gly1681=) c.3789C>A (p.Gly1263=) | dbSNP |
16 | g.2088058C= | CA2202030291 | TSC2 | c.*3428C= (n.*3428C=) c.4926C= (p.Gly1642=) c.5076C= (p.Gly1692=) c.*5592C= (n.*5592C=) c.*7828C= (n.*7828C=) c.5079C= (p.Gly1693=) c.5010C= (p.Gly1670=) c.4878C= (p.Gly1626=) c.4911C= (p.Gly1637=) c.1302C= n.2961C= c.3733C= c.4950C= (p.Gly1650=) n.676C= c.4881C= (p.Gly1627=) c.4947C= (p.Gly1649=) c.4872C= (p.Gly1624=) n.2727C= c.5004C= (p.Gly1668=) c.4875C= (p.Gly1625=) c.5000C= n.3163C= c.5073C= (p.Gly1691=) n.3894C= n.2331C= n.2302C= n.2192C= c.4734C= (p.Gly1578=) c.*4246C= (n.*4246C=) c.4770C= (p.Gly1590=) n.2802C= c.1261C= n.2194C= c.5133C= (p.Gly1711=) c.5130C= (p.Gly1710=) c.5022C= (p.Gly1674=) c.5001C= (p.Gly1667=) c.4347C= (p.Gly1449=) c.5295C= (p.Gly1765=) c.5043C= (p.Gly1681=) c.3789C= (p.Gly1263=) | |
16 | g.2088058C>G | CA493043632 | TSC2 | c.*3428C>G (n.*3428C>G) c.4926C>G (p.Gly1642=) c.5076C>G (p.Gly1692=) c.*5592C>G (n.*5592C>G) c.*7828C>G (n.*7828C>G) c.5079C>G (p.Gly1693=) c.5010C>G (p.Gly1670=) c.4878C>G (p.Gly1626=) c.4911C>G (p.Gly1637=) c.1302C>G n.2961C>G c.3733C>G c.4950C>G (p.Gly1650=) n.676C>G c.4881C>G (p.Gly1627=) c.4947C>G (p.Gly1649=) c.4872C>G (p.Gly1624=) n.2727C>G c.5004C>G (p.Gly1668=) c.4875C>G (p.Gly1625=) c.5000C>G n.3163C>G c.5073C>G (p.Gly1691=) n.3894C>G n.2331C>G n.2302C>G n.2192C>G c.4734C>G (p.Gly1578=) c.*4246C>G (n.*4246C>G) c.4770C>G (p.Gly1590=) n.2802C>G c.1261C>G n.2194C>G c.5133C>G (p.Gly1711=) c.5130C>G (p.Gly1710=) c.5022C>G (p.Gly1674=) c.5001C>G (p.Gly1667=) c.4347C>G (p.Gly1449=) c.5295C>G (p.Gly1765=) c.5043C>G (p.Gly1681=) c.3789C>G (p.Gly1263=) | ClinVar dbSNP |
16 | g.2088058C>T | CA493043631 | TSC2 | c.*3428C>T (n.*3428C>T) c.4926C>T (p.Gly1642=) c.5076C>T (p.Gly1692=) c.*5592C>T (n.*5592C>T) c.*7828C>T (n.*7828C>T) c.5079C>T (p.Gly1693=) c.5010C>T (p.Gly1670=) c.4878C>T (p.Gly1626=) c.4911C>T (p.Gly1637=) c.1302C>T n.2961C>T c.3733C>T c.4950C>T (p.Gly1650=) n.676C>T c.4881C>T (p.Gly1627=) c.4947C>T (p.Gly1649=) c.4872C>T (p.Gly1624=) n.2727C>T c.5004C>T (p.Gly1668=) c.4875C>T (p.Gly1625=) c.5000C>T n.3163C>T c.5073C>T (p.Gly1691=) n.3894C>T n.2331C>T n.2302C>T n.2192C>T c.4734C>T (p.Gly1578=) c.*4246C>T (n.*4246C>T) c.4770C>T (p.Gly1590=) n.2802C>T c.1261C>T n.2194C>T c.5133C>T (p.Gly1711=) c.5130C>T (p.Gly1710=) c.5022C>T (p.Gly1674=) c.5001C>T (p.Gly1667=) c.4347C>T (p.Gly1449=) c.5295C>T (p.Gly1765=) c.5043C>T (p.Gly1681=) c.3789C>T (p.Gly1263=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088058_2088067del | CA2695221734 | TSC2 | c.*3428_*3437del (n.*3428_*3437del) c.4926_4935del (p.Leu1643ProfsTer?) c.5076_5085del (p.Leu1693ProfsTer?) c.*5592_*5601del (n.*5592_*5601del) c.*7828_*7837del (n.*7828_*7837del) c.5079_5088del (p.Leu1694ProfsTer?) c.5010_5019del (p.Leu1671ProfsTer?) c.4878_4887del (p.Leu1627ProfsTer?) c.4911_4920del (p.Leu1638ProfsTer?) c.1302_1311del n.2961_2970del c.3733_3742del c.4950_4959del (p.Leu1651ProfsTer?) n.676_685del c.4881_4890del (p.Leu1628ProfsTer?) c.4947_4956del (p.Leu1650ProfsTer?) c.4872_4881del (p.Leu1625ProfsTer?) n.2727_2736del c.5004_5013del (p.Leu1669ProfsTer?) c.4878_4887del (p.Leu1627ProfsTer25) c.4875_4884del (p.Leu1626ProfsTer?) c.5000_5009del n.3163_3172del c.5073_5082del (p.Leu1692ProfsTer?) n.3894_3903del n.2331_2340del n.2302_2311del n.2192_2201del c.4734_4743del (p.Leu1579ProfsTer?) c.*4246_*4255del (n.*4246_*4255del) c.4770_4779del (p.Leu1591ProfsTer?) n.2802_2811del c.1261_1270del n.2194_2203del c.5133_5142del (p.Leu1712ProfsTer?) c.5130_5139del (p.Leu1711ProfsTer?) c.5022_5031del (p.Leu1675ProfsTer?) c.5001_5010del (p.Leu1668ProfsTer?) c.4347_4356del (p.Leu1450ProfsTer?) c.5295_5304del (p.Leu1766ProfsTer?) c.5043_5052del (p.Leu1682ProfsTer?) c.3789_3798del (p.Leu1264ProfsTer?) | |
16 | g.2088059C>A | CA394311986 | TSC2 | c.*3429C>A (n.*3429C>A) c.4927C>A (p.Leu1643Ile) c.5077C>A (p.Leu1693Ile) c.*5593C>A (n.*5593C>A) c.*7829C>A (n.*7829C>A) c.5080C>A (p.Leu1694Ile) c.5011C>A (p.Leu1671Ile) c.4879C>A (p.Leu1627Ile) c.4912C>A (p.Leu1638Ile) c.1303C>A n.2962C>A c.3734C>A c.4951C>A (p.Leu1651Ile) n.677C>A c.4882C>A (p.Leu1628Ile) c.4948C>A (p.Leu1650Ile) c.4873C>A (p.Leu1625Ile) n.2728C>A c.5005C>A (p.Leu1669Ile) c.4876C>A (p.Leu1626Ile) c.5001C>A n.3164C>A c.5074C>A (p.Leu1692Ile) n.3895C>A n.2332C>A n.2303C>A n.2193C>A c.4735C>A (p.Leu1579Ile) c.*4247C>A (n.*4247C>A) c.4771C>A (p.Leu1591Ile) n.2803C>A c.1262C>A n.2195C>A c.5134C>A (p.Leu1712Ile) c.5131C>A (p.Leu1711Ile) c.5023C>A (p.Leu1675Ile) c.5002C>A (p.Leu1668Ile) c.4348C>A (p.Leu1450Ile) c.5296C>A (p.Leu1766Ile) c.5044C>A (p.Leu1682Ile) c.3790C>A (p.Leu1264Ile) | dbSNP gnomAD v4 |
16 | g.2088059C= | CA2202030301 | TSC2 | c.*3429C= (n.*3429C=) c.4927C= (p.Leu1643=) c.5077C= (p.Leu1693=) c.*5593C= (n.*5593C=) c.*7829C= (n.*7829C=) c.5080C= (p.Leu1694=) c.5011C= (p.Leu1671=) c.4879C= (p.Leu1627=) c.4912C= (p.Leu1638=) c.1303C= n.2962C= c.3734C= c.4951C= (p.Leu1651=) n.677C= c.4882C= (p.Leu1628=) c.4948C= (p.Leu1650=) c.4873C= (p.Leu1625=) n.2728C= c.5005C= (p.Leu1669=) c.4876C= (p.Leu1626=) c.5001C= n.3164C= c.5074C= (p.Leu1692=) n.3895C= n.2332C= n.2303C= n.2193C= c.4735C= (p.Leu1579=) c.*4247C= (n.*4247C=) c.4771C= (p.Leu1591=) n.2803C= c.1262C= n.2195C= c.5134C= (p.Leu1712=) c.5131C= (p.Leu1711=) c.5023C= (p.Leu1675=) c.5002C= (p.Leu1668=) c.4348C= (p.Leu1450=) c.5296C= (p.Leu1766=) c.5044C= (p.Leu1682=) c.3790C= (p.Leu1264=) | |
16 | g.2088059C>G | CA394311988 | TSC2 | c.*3429C>G (n.*3429C>G) c.4927C>G (p.Leu1643Val) c.5077C>G (p.Leu1693Val) c.*5593C>G (n.*5593C>G) c.*7829C>G (n.*7829C>G) c.5080C>G (p.Leu1694Val) c.5011C>G (p.Leu1671Val) c.4879C>G (p.Leu1627Val) c.4912C>G (p.Leu1638Val) c.1303C>G n.2962C>G c.3734C>G c.4951C>G (p.Leu1651Val) n.677C>G c.4882C>G (p.Leu1628Val) c.4948C>G (p.Leu1650Val) c.4873C>G (p.Leu1625Val) n.2728C>G c.5005C>G (p.Leu1669Val) c.4876C>G (p.Leu1626Val) c.5001C>G n.3164C>G c.5074C>G (p.Leu1692Val) n.3895C>G n.2332C>G n.2303C>G n.2193C>G c.4735C>G (p.Leu1579Val) c.*4247C>G (n.*4247C>G) c.4771C>G (p.Leu1591Val) n.2803C>G c.1262C>G n.2195C>G c.5134C>G (p.Leu1712Val) c.5131C>G (p.Leu1711Val) c.5023C>G (p.Leu1675Val) c.5002C>G (p.Leu1668Val) c.4348C>G (p.Leu1450Val) c.5296C>G (p.Leu1766Val) c.5044C>G (p.Leu1682Val) c.3790C>G (p.Leu1264Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088059C>T | CA053886 | TSC2 | c.*3429C>T (n.*3429C>T) c.4927C>T (p.Leu1643Phe) c.5077C>T (p.Leu1693Phe) c.*5593C>T (n.*5593C>T) c.*7829C>T (n.*7829C>T) c.5080C>T (p.Leu1694Phe) c.5011C>T (p.Leu1671Phe) c.4879C>T (p.Leu1627Phe) c.4912C>T (p.Leu1638Phe) c.1303C>T n.2962C>T c.3734C>T c.4951C>T (p.Leu1651Phe) n.677C>T c.4882C>T (p.Leu1628Phe) c.4948C>T (p.Leu1650Phe) c.4873C>T (p.Leu1625Phe) n.2728C>T c.5005C>T (p.Leu1669Phe) c.4876C>T (p.Leu1626Phe) c.5001C>T n.3164C>T c.5074C>T (p.Leu1692Phe) n.3895C>T n.2332C>T n.2303C>T n.2193C>T c.4735C>T (p.Leu1579Phe) c.*4247C>T (n.*4247C>T) c.4771C>T (p.Leu1591Phe) n.2803C>T c.1262C>T n.2195C>T c.5134C>T (p.Leu1712Phe) c.5131C>T (p.Leu1711Phe) c.5023C>T (p.Leu1675Phe) c.5002C>T (p.Leu1668Phe) c.4348C>T (p.Leu1450Phe) c.5296C>T (p.Leu1766Phe) c.5044C>T (p.Leu1682Phe) c.3790C>T (p.Leu1264Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088060T>A | CA394311996 | TSC2 | c.*3430T>A (n.*3430T>A) c.4928T>A (p.Leu1643His) c.5078T>A (p.Leu1693His) c.*5594T>A (n.*5594T>A) c.*7830T>A (n.*7830T>A) c.5081T>A (p.Leu1694His) c.5012T>A (p.Leu1671His) c.4880T>A (p.Leu1627His) c.4913T>A (p.Leu1638His) c.1304T>A n.2963T>A c.3735T>A c.4952T>A (p.Leu1651His) n.678T>A c.4883T>A (p.Leu1628His) c.4949T>A (p.Leu1650His) c.4874T>A (p.Leu1625His) n.2729T>A c.5006T>A (p.Leu1669His) c.4877T>A (p.Leu1626His) c.5002T>A n.3165T>A c.5075T>A (p.Leu1692His) n.3896T>A n.2333T>A n.2304T>A n.2194T>A c.4736T>A (p.Leu1579His) c.*4248T>A (n.*4248T>A) c.4772T>A (p.Leu1591His) n.2804T>A c.1263T>A n.2196T>A c.5135T>A (p.Leu1712His) c.5132T>A (p.Leu1711His) c.5024T>A (p.Leu1675His) c.5003T>A (p.Leu1668His) c.4349T>A (p.Leu1450His) c.5297T>A (p.Leu1766His) c.5045T>A (p.Leu1682His) c.3791T>A (p.Leu1264His) | |
16 | g.2088060T>C | CA394312000 | TSC2 | c.*3430T>C (n.*3430T>C) c.4928T>C (p.Leu1643Pro) c.5078T>C (p.Leu1693Pro) c.*5594T>C (n.*5594T>C) c.*7830T>C (n.*7830T>C) c.5081T>C (p.Leu1694Pro) c.5012T>C (p.Leu1671Pro) c.4880T>C (p.Leu1627Pro) c.4913T>C (p.Leu1638Pro) c.1304T>C n.2963T>C c.3735T>C c.4952T>C (p.Leu1651Pro) n.678T>C c.4883T>C (p.Leu1628Pro) c.4949T>C (p.Leu1650Pro) c.4874T>C (p.Leu1625Pro) n.2729T>C c.5006T>C (p.Leu1669Pro) c.4877T>C (p.Leu1626Pro) c.5002T>C n.3165T>C c.5075T>C (p.Leu1692Pro) n.3896T>C n.2333T>C n.2304T>C n.2194T>C c.4736T>C (p.Leu1579Pro) c.*4248T>C (n.*4248T>C) c.4772T>C (p.Leu1591Pro) n.2804T>C c.1263T>C n.2196T>C c.5135T>C (p.Leu1712Pro) c.5132T>C (p.Leu1711Pro) c.5024T>C (p.Leu1675Pro) c.5003T>C (p.Leu1668Pro) c.4349T>C (p.Leu1450Pro) c.5297T>C (p.Leu1766Pro) c.5045T>C (p.Leu1682Pro) c.3791T>C (p.Leu1264Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088060T>G | CA394312003 | TSC2 | c.*3430T>G (n.*3430T>G) c.4928T>G (p.Leu1643Arg) c.5078T>G (p.Leu1693Arg) c.*5594T>G (n.*5594T>G) c.*7830T>G (n.*7830T>G) c.5081T>G (p.Leu1694Arg) c.5012T>G (p.Leu1671Arg) c.4880T>G (p.Leu1627Arg) c.4913T>G (p.Leu1638Arg) c.1304T>G n.2963T>G c.3735T>G c.4952T>G (p.Leu1651Arg) n.678T>G c.4883T>G (p.Leu1628Arg) c.4949T>G (p.Leu1650Arg) c.4874T>G (p.Leu1625Arg) n.2729T>G c.5006T>G (p.Leu1669Arg) c.4877T>G (p.Leu1626Arg) c.5002T>G n.3165T>G c.5075T>G (p.Leu1692Arg) n.3896T>G n.2333T>G n.2304T>G n.2194T>G c.4736T>G (p.Leu1579Arg) c.*4248T>G (n.*4248T>G) c.4772T>G (p.Leu1591Arg) n.2804T>G c.1263T>G n.2196T>G c.5135T>G (p.Leu1712Arg) c.5132T>G (p.Leu1711Arg) c.5024T>G (p.Leu1675Arg) c.5003T>G (p.Leu1668Arg) c.4349T>G (p.Leu1450Arg) c.5297T>G (p.Leu1766Arg) c.5045T>G (p.Leu1682Arg) c.3791T>G (p.Leu1264Arg) | dbSNP |
16 | g.2088060T= | CA2202030310 | TSC2 | c.*3430T= (n.*3430T=) c.4928T= (p.Leu1643=) c.5078T= (p.Leu1693=) c.*5594T= (n.*5594T=) c.*7830T= (n.*7830T=) c.5081T= (p.Leu1694=) c.5012T= (p.Leu1671=) c.4880T= (p.Leu1627=) c.4913T= (p.Leu1638=) c.1304T= n.2963T= c.3735T= c.4952T= (p.Leu1651=) n.678T= c.4883T= (p.Leu1628=) c.4949T= (p.Leu1650=) c.4874T= (p.Leu1625=) n.2729T= c.5006T= (p.Leu1669=) c.4877T= (p.Leu1626=) c.5002T= n.3165T= c.5075T= (p.Leu1692=) n.3896T= n.2333T= n.2304T= n.2194T= c.4736T= (p.Leu1579=) c.*4248T= (n.*4248T=) c.4772T= (p.Leu1591=) n.2804T= c.1263T= n.2196T= c.5135T= (p.Leu1712=) c.5132T= (p.Leu1711=) c.5024T= (p.Leu1675=) c.5003T= (p.Leu1668=) c.4349T= (p.Leu1450=) c.5297T= (p.Leu1766=) c.5045T= (p.Leu1682=) c.3791T= (p.Leu1264=) | |
16 | g.2088061del | CA2697549439 | TSC2 | c.*3431del (n.*3431del) c.4929del (p.Val1644TrpfsTer?) c.5079del (p.Val1694TrpfsTer?) c.*5595del (n.*5595del) c.*7831del (n.*7831del) c.5082del (p.Val1695TrpfsTer?) c.5013del (p.Val1672TrpfsTer?) c.4881del (p.Val1628TrpfsTer?) c.4914del (p.Val1639TrpfsTer?) c.1305del n.2964del c.3736del c.4953del (p.Val1652TrpfsTer?) n.679del c.4884del (p.Val1629TrpfsTer?) c.4950del (p.Val1651TrpfsTer?) c.4875del (p.Val1626TrpfsTer?) n.2730del c.5007del (p.Val1670TrpfsTer?) c.4881del (p.Val1628TrpfsTer27) c.4878del (p.Val1627TrpfsTer?) c.5003del n.3166del c.5076del (p.Val1693TrpfsTer?) n.3897del n.2334del n.2305del n.2195del c.4737del (p.Val1580TrpfsTer?) c.*4249del (n.*4249del) c.4773del (p.Val1592TrpfsTer?) n.2805del c.1264del n.2197del c.5136del (p.Val1713TrpfsTer?) c.5133del (p.Val1712TrpfsTer?) c.5025del (p.Val1676TrpfsTer?) c.5004del (p.Val1669TrpfsTer?) c.4350del (p.Val1451TrpfsTer?) c.5298del (p.Val1767TrpfsTer?) c.5046del (p.Val1683TrpfsTer?) c.3792del (p.Val1265TrpfsTer?) | ClinVar |
16 | g.2088060_2088061insA | CA1139664250 | TSC2 | c.*3430_*3431insA (n.*3430_*3431insA) c.4928_4929insA (p.Val1644CysfsTer11) c.5078_5079insA (p.Val1694CysfsTer11) c.*5594_*5595insA (n.*5594_*5595insA) c.*7830_*7831insA (n.*7830_*7831insA) c.5081_5082insA (p.Val1695CysfsTer11) c.5012_5013insA (p.Val1672CysfsTer11) c.4880_4881insA (p.Val1628CysfsTer11) c.4913_4914insA (p.Val1639CysfsTer11) c.1304_1305insA n.2963_2964insA c.3735_3736insA c.4952_4953insA (p.Val1652CysfsTer11) n.678_679insA c.4883_4884insA (p.Val1629CysfsTer11) c.4949_4950insA (p.Val1651CysfsTer11) c.4874_4875insA (p.Val1626CysfsTer11) n.2729_2730insA c.5006_5007insA (p.Val1670CysfsTer11) c.4877_4878insA (p.Val1627CysfsTer11) c.5002_5003insA n.3165_3166insA c.5075_5076insA (p.Val1693CysfsTer11) n.3896_3897insA n.2333_2334insA n.2304_2305insA n.2194_2195insA c.4736_4737insA (p.Val1580CysfsTer11) c.*4248_*4249insA (n.*4248_*4249insA) c.4772_4773insA (p.Val1592CysfsTer11) n.2804_2805insA c.1263_1264insA n.2196_2197insA c.5135_5136insA (p.Val1713CysfsTer11) c.5132_5133insA (p.Val1712CysfsTer11) c.5024_5025insA (p.Val1676CysfsTer11) c.5003_5004insA (p.Val1669CysfsTer11) c.4349_4350insA (p.Val1451CysfsTer11) c.5297_5298insA (p.Val1767CysfsTer11) c.5045_5046insA (p.Val1683CysfsTer11) c.3791_3792insA (p.Val1265CysfsTer11) | ClinVar dbSNP |
16 | g.2088061T>A | CA493043634 | TSC2 | c.*3431T>A (n.*3431T>A) c.4929T>A (p.Leu1643=) c.5079T>A (p.Leu1693=) c.*5595T>A (n.*5595T>A) c.*7831T>A (n.*7831T>A) c.5082T>A (p.Leu1694=) c.5013T>A (p.Leu1671=) c.4881T>A (p.Leu1627=) c.4914T>A (p.Leu1638=) c.1305T>A n.2964T>A c.3736T>A c.4953T>A (p.Leu1651=) n.679T>A c.4884T>A (p.Leu1628=) c.4950T>A (p.Leu1650=) c.4875T>A (p.Leu1625=) n.2730T>A c.5007T>A (p.Leu1669=) c.4878T>A (p.Leu1626=) c.5003T>A n.3166T>A c.5076T>A (p.Leu1692=) n.3897T>A n.2334T>A n.2305T>A n.2195T>A c.4737T>A (p.Leu1579=) c.*4249T>A (n.*4249T>A) c.4773T>A (p.Leu1591=) n.2805T>A c.1264T>A n.2197T>A c.5136T>A (p.Leu1712=) c.5133T>A (p.Leu1711=) c.5025T>A (p.Leu1675=) c.5004T>A (p.Leu1668=) c.4350T>A (p.Leu1450=) c.5298T>A (p.Leu1766=) c.5046T>A (p.Leu1682=) c.3792T>A (p.Leu1264=) | dbSNP |
16 | g.2088061T>C | CA493043635 | TSC2 | c.*3431T>C (n.*3431T>C) c.4929T>C (p.Leu1643=) c.5079T>C (p.Leu1693=) c.*5595T>C (n.*5595T>C) c.*7831T>C (n.*7831T>C) c.5082T>C (p.Leu1694=) c.5013T>C (p.Leu1671=) c.4881T>C (p.Leu1627=) c.4914T>C (p.Leu1638=) c.1305T>C n.2964T>C c.3736T>C c.4953T>C (p.Leu1651=) n.679T>C c.4884T>C (p.Leu1628=) c.4950T>C (p.Leu1650=) c.4875T>C (p.Leu1625=) n.2730T>C c.5007T>C (p.Leu1669=) c.4878T>C (p.Leu1626=) c.5003T>C n.3166T>C c.5076T>C (p.Leu1692=) n.3897T>C n.2334T>C n.2305T>C n.2195T>C c.4737T>C (p.Leu1579=) c.*4249T>C (n.*4249T>C) c.4773T>C (p.Leu1591=) n.2805T>C c.1264T>C n.2197T>C c.5136T>C (p.Leu1712=) c.5133T>C (p.Leu1711=) c.5025T>C (p.Leu1675=) c.5004T>C (p.Leu1668=) c.4350T>C (p.Leu1450=) c.5298T>C (p.Leu1766=) c.5046T>C (p.Leu1682=) c.3792T>C (p.Leu1264=) | ClinVar dbSNP |
16 | g.2088061T>G | CA493043636 | TSC2 | c.*3431T>G (n.*3431T>G) c.4929T>G (p.Leu1643=) c.5079T>G (p.Leu1693=) c.*5595T>G (n.*5595T>G) c.*7831T>G (n.*7831T>G) c.5082T>G (p.Leu1694=) c.5013T>G (p.Leu1671=) c.4881T>G (p.Leu1627=) c.4914T>G (p.Leu1638=) c.1305T>G n.2964T>G c.3736T>G c.4953T>G (p.Leu1651=) n.679T>G c.4884T>G (p.Leu1628=) c.4950T>G (p.Leu1650=) c.4875T>G (p.Leu1625=) n.2730T>G c.5007T>G (p.Leu1669=) c.4878T>G (p.Leu1626=) c.5003T>G n.3166T>G c.5076T>G (p.Leu1692=) n.3897T>G n.2334T>G n.2305T>G n.2195T>G c.4737T>G (p.Leu1579=) c.*4249T>G (n.*4249T>G) c.4773T>G (p.Leu1591=) n.2805T>G c.1264T>G n.2197T>G c.5136T>G (p.Leu1712=) c.5133T>G (p.Leu1711=) c.5025T>G (p.Leu1675=) c.5004T>G (p.Leu1668=) c.4350T>G (p.Leu1450=) c.5298T>G (p.Leu1766=) c.5046T>G (p.Leu1682=) c.3792T>G (p.Leu1264=) | |
16 | g.2088061_2088064delinsTGTG | CA2202030318 | TSC2 | c.*3431_*3434delinsTGTG (n.*3431_*3434delinsTGTG) c.4929_4932delinsTGTG (p.Leu1643=) c.5079_5082delinsTGTG (p.Leu1693=) c.*5595_*5598delinsTGTG (n.*5595_*5598delinsTGTG) c.*7831_*7834delinsTGTG (n.*7831_*7834delinsTGTG) c.5082_5085delinsTGTG (p.Leu1694=) c.5013_5016delinsTGTG (p.Leu1671=) c.4881_4884delinsTGTG (p.Leu1627=) c.4914_4917delinsTGTG (p.Leu1638=) c.1305_1308delinsTGTG n.2964_2967delinsTGTG c.3736_3739delinsTGTG c.4953_4956delinsTGTG (p.Leu1651=) n.679_682delinsTGTG c.4884_4887delinsTGTG (p.Leu1628=) c.4950_4953delinsTGTG (p.Leu1650=) c.4875_4878delinsTGTG (p.Leu1625=) n.2730_2733delinsTGTG c.5007_5010delinsTGTG (p.Leu1669=) c.4878_4881delinsTGTG (p.Leu1626=) c.5003_5006delinsTGTG n.3166_3169delinsTGTG c.5076_5079delinsTGTG (p.Leu1692=) n.3897_3900delinsTGTG n.2334_2337delinsTGTG n.2305_2308delinsTGTG n.2195_2198delinsTGTG c.4737_4740delinsTGTG (p.Leu1579=) c.*4249_*4252delinsTGTG (n.*4249_*4252delinsTGTG) c.4773_4776delinsTGTG (p.Leu1591=) n.2805_2808delinsTGTG c.1264_1267delinsTGTG n.2197_2200delinsTGTG c.5136_5139delinsTGTG (p.Leu1712=) c.5133_5136delinsTGTG (p.Leu1711=) c.5025_5028delinsTGTG (p.Leu1675=) c.5004_5007delinsTGTG (p.Leu1668=) c.4350_4353delinsTGTG (p.Leu1450=) c.5298_5301delinsTGTG (p.Leu1766=) c.5046_5049delinsTGTG (p.Leu1682=) c.3792_3795delinsTGTG (p.Leu1264=) | |
16 | g.2088062G>A | CA394312016 | TSC2 | c.*3432G>A (n.*3432G>A) c.4930G>A (p.Val1644Met) c.5080G>A (p.Val1694Met) c.*5596G>A (n.*5596G>A) c.*7832G>A (n.*7832G>A) c.5083G>A (p.Val1695Met) c.5014G>A (p.Val1672Met) c.4882G>A (p.Val1628Met) c.4915G>A (p.Val1639Met) c.1306G>A n.2965G>A c.3737G>A c.4954G>A (p.Val1652Met) n.680G>A c.4885G>A (p.Val1629Met) c.4951G>A (p.Val1651Met) c.4876G>A (p.Val1626Met) n.2731G>A c.5008G>A (p.Val1670Met) c.4879G>A (p.Val1627Met) c.5004G>A n.3167G>A c.5077G>A (p.Val1693Met) n.3898G>A n.2335G>A n.2306G>A n.2196G>A c.4738G>A (p.Val1580Met) c.*4250G>A (n.*4250G>A) c.4774G>A (p.Val1592Met) n.2806G>A c.1265G>A n.2198G>A c.5137G>A (p.Val1713Met) c.5134G>A (p.Val1712Met) c.5026G>A (p.Val1676Met) c.5005G>A (p.Val1669Met) c.4351G>A (p.Val1451Met) c.5299G>A (p.Val1767Met) c.5047G>A (p.Val1683Met) c.3793G>A (p.Val1265Met) | ClinVar dbSNP gnomAD v4 |
16 | g.2088062G>C | CA394312021 | TSC2 | c.*3432G>C (n.*3432G>C) c.4930G>C (p.Val1644Leu) c.5080G>C (p.Val1694Leu) c.*5596G>C (n.*5596G>C) c.*7832G>C (n.*7832G>C) c.5083G>C (p.Val1695Leu) c.5014G>C (p.Val1672Leu) c.4882G>C (p.Val1628Leu) c.4915G>C (p.Val1639Leu) c.1306G>C n.2965G>C c.3737G>C c.4954G>C (p.Val1652Leu) n.680G>C c.4885G>C (p.Val1629Leu) c.4951G>C (p.Val1651Leu) c.4876G>C (p.Val1626Leu) n.2731G>C c.5008G>C (p.Val1670Leu) c.4879G>C (p.Val1627Leu) c.5004G>C n.3167G>C c.5077G>C (p.Val1693Leu) n.3898G>C n.2335G>C n.2306G>C n.2196G>C c.4738G>C (p.Val1580Leu) c.*4250G>C (n.*4250G>C) c.4774G>C (p.Val1592Leu) n.2806G>C c.1265G>C n.2198G>C c.5137G>C (p.Val1713Leu) c.5134G>C (p.Val1712Leu) c.5026G>C (p.Val1676Leu) c.5005G>C (p.Val1669Leu) c.4351G>C (p.Val1451Leu) c.5299G>C (p.Val1767Leu) c.5047G>C (p.Val1683Leu) c.3793G>C (p.Val1265Leu) | dbSNP |
16 | g.2088062G>T | CA394312024 | TSC2 | c.*3432G>T (n.*3432G>T) c.4930G>T (p.Val1644Leu) c.5080G>T (p.Val1694Leu) c.*5596G>T (n.*5596G>T) c.*7832G>T (n.*7832G>T) c.5083G>T (p.Val1695Leu) c.5014G>T (p.Val1672Leu) c.4882G>T (p.Val1628Leu) c.4915G>T (p.Val1639Leu) c.1306G>T n.2965G>T c.3737G>T c.4954G>T (p.Val1652Leu) n.680G>T c.4885G>T (p.Val1629Leu) c.4951G>T (p.Val1651Leu) c.4876G>T (p.Val1626Leu) n.2731G>T c.5008G>T (p.Val1670Leu) c.4879G>T (p.Val1627Leu) c.5004G>T n.3167G>T c.5077G>T (p.Val1693Leu) n.3898G>T n.2335G>T n.2306G>T n.2196G>T c.4738G>T (p.Val1580Leu) c.*4250G>T (n.*4250G>T) c.4774G>T (p.Val1592Leu) n.2806G>T c.1265G>T n.2198G>T c.5137G>T (p.Val1713Leu) c.5134G>T (p.Val1712Leu) c.5026G>T (p.Val1676Leu) c.5005G>T (p.Val1669Leu) c.4351G>T (p.Val1451Leu) c.5299G>T (p.Val1767Leu) c.5047G>T (p.Val1683Leu) c.3793G>T (p.Val1265Leu) | dbSNP |
16 | g.2088063_2088065del | CA053893 | TSC2 | c.*3433_*3435del (n.*3433_*3435del) c.4931_4933del (p.Val1644del) c.5081_5083del (p.Val1694del) c.*5597_*5599del (n.*5597_*5599del) c.*7833_*7835del (n.*7833_*7835del) c.5084_5086del (p.Val1695del) c.5015_5017del (p.Val1672del) c.4883_4885del (p.Val1628del) c.4916_4918del (p.Val1639del) c.1307_1309del n.2966_2968del c.3738_3740del c.4955_4957del (p.Val1652del) n.681_683del c.4886_4888del (p.Val1629del) c.4952_4954del (p.Val1651del) c.4877_4879del (p.Val1626del) n.2732_2734del c.5009_5011del (p.Val1670del) c.4880_4882del (p.Val1627del) c.5005_5007del n.3168_3170del c.5078_5080del (p.Val1693del) n.3899_3901del n.2336_2338del n.2307_2309del n.2197_2199del c.4739_4741del (p.Val1580del) c.*4251_*4253del (n.*4251_*4253del) c.4775_4777del (p.Val1592del) n.2807_2809del c.1266_1268del n.2199_2201del c.5138_5140del (p.Val1713del) c.5135_5137del (p.Val1712del) c.5027_5029del (p.Val1676del) c.5006_5008del (p.Val1669del) c.4352_4354del (p.Val1451del) c.5300_5302del (p.Val1767del) c.5048_5050del (p.Val1683del) c.3794_3796del (p.Val1265del) | ClinVar dbSNP ExAC gnomAD v2 |
16 | g.2088062_2088073delinsGTGGACACCAGC | CA2202030323 | TSC2 | c.*3432_*3443delinsGTGGACACCAGC (n.*3432_*3443delinsGTGGACACCAGC) c.4930_4941delinsGTGGACACCAGC (p.Val1644=) c.5080_5091delinsGTGGACACCAGC (p.Val1694=) c.*5596_*5607delinsGTGGACACCAGC (n.*5596_*5607delinsGTGGACACCAGC) c.*7832_*7843delinsGTGGACACCAGC (n.*7832_*7843delinsGTGGACACCAGC) c.5083_5094delinsGTGGACACCAGC (p.Val1695=) c.5014_5025delinsGTGGACACCAGC (p.Val1672=) c.4882_4893delinsGTGGACACCAGC (p.Val1628=) c.4915_4926delinsGTGGACACCAGC (p.Val1639=) c.1306_1317delinsGTGGACACCAGC n.2965_2976delinsGTGGACACCAGC c.3737_3748delinsGTGGACACCAGC c.4954_4965delinsGTGGACACCAGC (p.Val1652=) n.680_691delinsGTGGACACCAGC c.4885_4896delinsGTGGACACCAGC (p.Val1629=) c.4951_4962delinsGTGGACACCAGC (p.Val1651=) c.4876_4887delinsGTGGACACCAGC (p.Val1626=) n.2731_2742delinsGTGGACACCAGC c.5008_5019delinsGTGGACACCAGC (p.Val1670=) c.4879_4890delinsGTGGACACCAGC (p.Val1627=) c.5004_5015delinsGTGGACACCAGC n.3167_3178delinsGTGGACACCAGC c.5077_5088delinsGTGGACACCAGC (p.Val1693=) n.3898_3909delinsGTGGACACCAGC n.2335_2346delinsGTGGACACCAGC n.2306_2317delinsGTGGACACCAGC n.2196_2207delinsGTGGACACCAGC c.4738_4749delinsGTGGACACCAGC (p.Val1580=) c.*4250_*4261delinsGTGGACACCAGC (n.*4250_*4261delinsGTGGACACCAGC) c.4774_4785delinsGTGGACACCAGC (p.Val1592=) n.2806_2817delinsGTGGACACCAGC c.1265_1276delinsGTGGACACCAGC n.2198_2209delinsGTGGACACCAGC c.5137_5148delinsGTGGACACCAGC (p.Val1713=) c.5134_5145delinsGTGGACACCAGC (p.Val1712=) c.5026_5037delinsGTGGACACCAGC (p.Val1676=) c.5005_5016delinsGTGGACACCAGC (p.Val1669=) c.4351_4362delinsGTGGACACCAGC (p.Val1451=) c.5299_5310delinsGTGGACACCAGC (p.Val1767=) c.5047_5058delinsGTGGACACCAGC (p.Val1683=) c.3793_3804delinsGTGGACACCAGC (p.Val1265=) | |
16 | g.2088063T>A | CA394312037 | TSC2 | c.*3433T>A (n.*3433T>A) c.4931T>A (p.Val1644Glu) c.5081T>A (p.Val1694Glu) c.*5597T>A (n.*5597T>A) c.*7833T>A (n.*7833T>A) c.5084T>A (p.Val1695Glu) c.5015T>A (p.Val1672Glu) c.4883T>A (p.Val1628Glu) c.4916T>A (p.Val1639Glu) c.1307T>A n.2966T>A c.3738T>A c.4955T>A (p.Val1652Glu) n.681T>A c.4886T>A (p.Val1629Glu) c.4952T>A (p.Val1651Glu) c.4877T>A (p.Val1626Glu) n.2732T>A c.5009T>A (p.Val1670Glu) c.4880T>A (p.Val1627Glu) c.5005T>A n.3168T>A c.5078T>A (p.Val1693Glu) n.3899T>A n.2336T>A n.2307T>A n.2197T>A c.4739T>A (p.Val1580Glu) c.*4251T>A (n.*4251T>A) c.4775T>A (p.Val1592Glu) n.2807T>A c.1266T>A n.2199T>A c.5138T>A (p.Val1713Glu) c.5135T>A (p.Val1712Glu) c.5027T>A (p.Val1676Glu) c.5006T>A (p.Val1669Glu) c.4352T>A (p.Val1451Glu) c.5300T>A (p.Val1767Glu) c.5048T>A (p.Val1683Glu) c.3794T>A (p.Val1265Glu) | |
16 | g.2088063T>C | CA394312039 | TSC2 | c.*3433T>C (n.*3433T>C) c.4931T>C (p.Val1644Ala) c.5081T>C (p.Val1694Ala) c.*5597T>C (n.*5597T>C) c.*7833T>C (n.*7833T>C) c.5084T>C (p.Val1695Ala) c.5015T>C (p.Val1672Ala) c.4883T>C (p.Val1628Ala) c.4916T>C (p.Val1639Ala) c.1307T>C n.2966T>C c.3738T>C c.4955T>C (p.Val1652Ala) n.681T>C c.4886T>C (p.Val1629Ala) c.4952T>C (p.Val1651Ala) c.4877T>C (p.Val1626Ala) n.2732T>C c.5009T>C (p.Val1670Ala) c.4880T>C (p.Val1627Ala) c.5005T>C n.3168T>C c.5078T>C (p.Val1693Ala) n.3899T>C n.2336T>C n.2307T>C n.2197T>C c.4739T>C (p.Val1580Ala) c.*4251T>C (n.*4251T>C) c.4775T>C (p.Val1592Ala) n.2807T>C c.1266T>C n.2199T>C c.5138T>C (p.Val1713Ala) c.5135T>C (p.Val1712Ala) c.5027T>C (p.Val1676Ala) c.5006T>C (p.Val1669Ala) c.4352T>C (p.Val1451Ala) c.5300T>C (p.Val1767Ala) c.5048T>C (p.Val1683Ala) c.3794T>C (p.Val1265Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.2088063T>G | CA394312035 | TSC2 | c.*3433T>G (n.*3433T>G) c.4931T>G (p.Val1644Gly) c.5081T>G (p.Val1694Gly) c.*5597T>G (n.*5597T>G) c.*7833T>G (n.*7833T>G) c.5084T>G (p.Val1695Gly) c.5015T>G (p.Val1672Gly) c.4883T>G (p.Val1628Gly) c.4916T>G (p.Val1639Gly) c.1307T>G n.2966T>G c.3738T>G c.4955T>G (p.Val1652Gly) n.681T>G c.4886T>G (p.Val1629Gly) c.4952T>G (p.Val1651Gly) c.4877T>G (p.Val1626Gly) n.2732T>G c.5009T>G (p.Val1670Gly) c.4880T>G (p.Val1627Gly) c.5005T>G n.3168T>G c.5078T>G (p.Val1693Gly) n.3899T>G n.2336T>G n.2307T>G n.2197T>G c.4739T>G (p.Val1580Gly) c.*4251T>G (n.*4251T>G) c.4775T>G (p.Val1592Gly) n.2807T>G c.1266T>G n.2199T>G c.5138T>G (p.Val1713Gly) c.5135T>G (p.Val1712Gly) c.5027T>G (p.Val1676Gly) c.5006T>G (p.Val1669Gly) c.4352T>G (p.Val1451Gly) c.5300T>G (p.Val1767Gly) c.5048T>G (p.Val1683Gly) c.3794T>G (p.Val1265Gly) | gnomAD v4 |
16 | g.2088063T= | CA2202030335 | TSC2 | c.*3433T= (n.*3433T=) c.4931T= (p.Val1644=) c.5081T= (p.Val1694=) c.*5597T= (n.*5597T=) c.*7833T= (n.*7833T=) c.5084T= (p.Val1695=) c.5015T= (p.Val1672=) c.4883T= (p.Val1628=) c.4916T= (p.Val1639=) c.1307T= n.2966T= c.3738T= c.4955T= (p.Val1652=) n.681T= c.4886T= (p.Val1629=) c.4952T= (p.Val1651=) c.4877T= (p.Val1626=) n.2732T= c.5009T= (p.Val1670=) c.4880T= (p.Val1627=) c.5005T= n.3168T= c.5078T= (p.Val1693=) n.3899T= n.2336T= n.2307T= n.2197T= c.4739T= (p.Val1580=) c.*4251T= (n.*4251T=) c.4775T= (p.Val1592=) n.2807T= c.1266T= n.2199T= c.5138T= (p.Val1713=) c.5135T= (p.Val1712=) c.5027T= (p.Val1676=) c.5006T= (p.Val1669=) c.4352T= (p.Val1451=) c.5300T= (p.Val1767=) c.5048T= (p.Val1683=) c.3794T= (p.Val1265=) | |
16 | g.2088063_2088073del | CA021693 | TSC2 | c.*3433_*3443del (n.*3433_*3443del) c.4931_4941del (p.Val1644GlyfsTer7) c.5081_5091del (p.Val1694GlyfsTer7) c.*5597_*5607del (n.*5597_*5607del) c.*7833_*7843del (n.*7833_*7843del) c.5084_5094del (p.Val1695GlyfsTer7) c.5015_5025del (p.Val1672GlyfsTer7) c.4883_4893del (p.Val1628GlyfsTer7) c.4916_4926del (p.Val1639GlyfsTer7) c.1307_1317del n.2966_2976del c.3738_3748del c.4955_4965del (p.Val1652GlyfsTer7) n.681_691del c.4886_4896del (p.Val1629GlyfsTer7) c.4952_4962del (p.Val1651GlyfsTer7) c.4877_4887del (p.Val1626GlyfsTer7) n.2732_2742del c.5009_5019del (p.Val1670GlyfsTer7) c.4880_4890del (p.Val1627GlyfsTer7) c.5005_5015del n.3168_3178del c.5078_5088del (p.Val1693GlyfsTer7) n.3899_3909del n.2336_2346del n.2307_2317del n.2197_2207del c.4739_4749del (p.Val1580GlyfsTer7) c.*4251_*4261del (n.*4251_*4261del) c.4775_4785del (p.Val1592GlyfsTer7) n.2807_2817del c.1266_1276del n.2199_2209del c.5138_5148del (p.Val1713GlyfsTer7) c.5135_5145del (p.Val1712GlyfsTer7) c.5027_5037del (p.Val1676GlyfsTer7) c.5006_5016del (p.Val1669GlyfsTer7) c.4352_4362del (p.Val1451GlyfsTer7) c.5300_5310del (p.Val1767GlyfsTer7) c.5048_5058del (p.Val1683GlyfsTer7) c.3794_3804del (p.Val1265GlyfsTer7) | ClinVar dbSNP |
16 | g.2088064G>A | CA493043637 | TSC2 | c.*3434G>A (n.*3434G>A) c.4932G>A (p.Val1644=) c.5082G>A (p.Val1694=) c.*5598G>A (n.*5598G>A) c.*7834G>A (n.*7834G>A) c.5085G>A (p.Val1695=) c.5016G>A (p.Val1672=) c.4884G>A (p.Val1628=) c.4917G>A (p.Val1639=) c.1308G>A n.2967G>A c.3739G>A c.4956G>A (p.Val1652=) n.682G>A c.4887G>A (p.Val1629=) c.4953G>A (p.Val1651=) c.4878G>A (p.Val1626=) n.2733G>A c.5010G>A (p.Val1670=) c.4881G>A (p.Val1627=) c.5006G>A n.3169G>A c.5079G>A (p.Val1693=) n.3900G>A n.2337G>A n.2308G>A n.2198G>A c.4740G>A (p.Val1580=) c.*4252G>A (n.*4252G>A) c.4776G>A (p.Val1592=) n.2808G>A c.1267G>A n.2200G>A c.5139G>A (p.Val1713=) c.5136G>A (p.Val1712=) c.5028G>A (p.Val1676=) c.5007G>A (p.Val1669=) c.4353G>A (p.Val1451=) c.5301G>A (p.Val1767=) c.5049G>A (p.Val1683=) c.3795G>A (p.Val1265=) | ClinVar dbSNP |
16 | g.2088064G>C | CA493043638 | TSC2 | c.*3434G>C (n.*3434G>C) c.4932G>C (p.Val1644=) c.5082G>C (p.Val1694=) c.*5598G>C (n.*5598G>C) c.*7834G>C (n.*7834G>C) c.5085G>C (p.Val1695=) c.5016G>C (p.Val1672=) c.4884G>C (p.Val1628=) c.4917G>C (p.Val1639=) c.1308G>C n.2967G>C c.3739G>C c.4956G>C (p.Val1652=) n.682G>C c.4887G>C (p.Val1629=) c.4953G>C (p.Val1651=) c.4878G>C (p.Val1626=) n.2733G>C c.5010G>C (p.Val1670=) c.4881G>C (p.Val1627=) c.5006G>C n.3169G>C c.5079G>C (p.Val1693=) n.3900G>C n.2337G>C n.2308G>C n.2198G>C c.4740G>C (p.Val1580=) c.*4252G>C (n.*4252G>C) c.4776G>C (p.Val1592=) n.2808G>C c.1267G>C n.2200G>C c.5139G>C (p.Val1713=) c.5136G>C (p.Val1712=) c.5028G>C (p.Val1676=) c.5007G>C (p.Val1669=) c.4353G>C (p.Val1451=) c.5301G>C (p.Val1767=) c.5049G>C (p.Val1683=) c.3795G>C (p.Val1265=) | |
16 | g.2088064G>T | CA493043639 | TSC2 | c.*3434G>T (n.*3434G>T) c.4932G>T (p.Val1644=) c.5082G>T (p.Val1694=) c.*5598G>T (n.*5598G>T) c.*7834G>T (n.*7834G>T) c.5085G>T (p.Val1695=) c.5016G>T (p.Val1672=) c.4884G>T (p.Val1628=) c.4917G>T (p.Val1639=) c.1308G>T n.2967G>T c.3739G>T c.4956G>T (p.Val1652=) n.682G>T c.4887G>T (p.Val1629=) c.4953G>T (p.Val1651=) c.4878G>T (p.Val1626=) n.2733G>T c.5010G>T (p.Val1670=) c.4881G>T (p.Val1627=) c.5006G>T n.3169G>T c.5079G>T (p.Val1693=) n.3900G>T n.2337G>T n.2308G>T n.2198G>T c.4740G>T (p.Val1580=) c.*4252G>T (n.*4252G>T) c.4776G>T (p.Val1592=) n.2808G>T c.1267G>T n.2200G>T c.5139G>T (p.Val1713=) c.5136G>T (p.Val1712=) c.5028G>T (p.Val1676=) c.5007G>T (p.Val1669=) c.4353G>T (p.Val1451=) c.5301G>T (p.Val1767=) c.5049G>T (p.Val1683=) c.3795G>T (p.Val1265=) | dbSNP |
16 | g.2088065dup | CA2499223352 | TSC2 | c.*3435dup (n.*3435dup) c.4933dup (p.Asp1645GlyfsTer10) c.5083dup (p.Asp1695GlyfsTer10) c.*5599dup (n.*5599dup) c.*7835dup (n.*7835dup) c.5086dup (p.Asp1696GlyfsTer10) c.5017dup (p.Asp1673GlyfsTer10) c.4885dup (p.Asp1629GlyfsTer10) c.4918dup (p.Asp1640GlyfsTer10) c.1309dup n.2968dup c.3740dup c.4957dup (p.Asp1653GlyfsTer10) n.683dup c.4888dup (p.Asp1630GlyfsTer10) c.4954dup (p.Asp1652GlyfsTer10) c.4879dup (p.Asp1627GlyfsTer10) n.2734dup c.5011dup (p.Asp1671GlyfsTer10) c.4882dup (p.Asp1628GlyfsTer10) c.5007dup n.3170dup c.5080dup (p.Asp1694GlyfsTer10) n.3901dup n.2338dup n.2309dup n.2199dup c.4741dup (p.Asp1581GlyfsTer10) c.*4253dup (n.*4253dup) c.4777dup (p.Asp1593GlyfsTer10) n.2809dup c.1268dup n.2201dup c.5140dup (p.Asp1714GlyfsTer10) c.5137dup (p.Asp1713GlyfsTer10) c.5029dup (p.Asp1677GlyfsTer10) c.5008dup (p.Asp1670GlyfsTer10) c.4354dup (p.Asp1452GlyfsTer10) c.5302dup (p.Asp1768GlyfsTer10) c.5050dup (p.Asp1684GlyfsTer10) c.3796dup (p.Asp1266GlyfsTer10) | ClinVar dbSNP |
16 | g.2088065G>A | CA394312046 | TSC2 | c.*3435G>A (n.*3435G>A) c.4933G>A (p.Asp1645Asn) c.5083G>A (p.Asp1695Asn) c.*5599G>A (n.*5599G>A) c.*7835G>A (n.*7835G>A) c.5086G>A (p.Asp1696Asn) c.5017G>A (p.Asp1673Asn) c.4885G>A (p.Asp1629Asn) c.4918G>A (p.Asp1640Asn) c.1309G>A n.2968G>A c.3740G>A c.4957G>A (p.Asp1653Asn) n.683G>A c.4888G>A (p.Asp1630Asn) c.4954G>A (p.Asp1652Asn) c.4879G>A (p.Asp1627Asn) n.2734G>A c.5011G>A (p.Asp1671Asn) c.4882G>A (p.Asp1628Asn) c.5007G>A n.3170G>A c.5080G>A (p.Asp1694Asn) n.3901G>A n.2338G>A n.2309G>A n.2199G>A c.4741G>A (p.Asp1581Asn) c.*4253G>A (n.*4253G>A) c.4777G>A (p.Asp1593Asn) n.2809G>A c.1268G>A n.2201G>A c.5140G>A (p.Asp1714Asn) c.5137G>A (p.Asp1713Asn) c.5029G>A (p.Asp1677Asn) c.5008G>A (p.Asp1670Asn) c.4354G>A (p.Asp1452Asn) c.5302G>A (p.Asp1768Asn) c.5050G>A (p.Asp1684Asn) c.3796G>A (p.Asp1266Asn) | ClinVar dbSNP gnomAD v4 |
16 | g.2088065G>C | CA394312048 | TSC2 | c.*3435G>C (n.*3435G>C) c.4933G>C (p.Asp1645His) c.5083G>C (p.Asp1695His) c.*5599G>C (n.*5599G>C) c.*7835G>C (n.*7835G>C) c.5086G>C (p.Asp1696His) c.5017G>C (p.Asp1673His) c.4885G>C (p.Asp1629His) c.4918G>C (p.Asp1640His) c.1309G>C n.2968G>C c.3740G>C c.4957G>C (p.Asp1653His) n.683G>C c.4888G>C (p.Asp1630His) c.4954G>C (p.Asp1652His) c.4879G>C (p.Asp1627His) n.2734G>C c.5011G>C (p.Asp1671His) c.4882G>C (p.Asp1628His) c.5007G>C n.3170G>C c.5080G>C (p.Asp1694His) n.3901G>C n.2338G>C n.2309G>C n.2199G>C c.4741G>C (p.Asp1581His) c.*4253G>C (n.*4253G>C) c.4777G>C (p.Asp1593His) n.2809G>C c.1268G>C n.2201G>C c.5140G>C (p.Asp1714His) c.5137G>C (p.Asp1713His) c.5029G>C (p.Asp1677His) c.5008G>C (p.Asp1670His) c.4354G>C (p.Asp1452His) c.5302G>C (p.Asp1768His) c.5050G>C (p.Asp1684His) c.3796G>C (p.Asp1266His) | dbSNP gnomAD v4 |
16 | g.2088065G= | CA2202030343 | TSC2 | c.*3435G= (n.*3435G=) c.4933G= (p.Asp1645=) c.5083G= (p.Asp1695=) c.*5599G= (n.*5599G=) c.*7835G= (n.*7835G=) c.5086G= (p.Asp1696=) c.5017G= (p.Asp1673=) c.4885G= (p.Asp1629=) c.4918G= (p.Asp1640=) c.1309G= n.2968G= c.3740G= c.4957G= (p.Asp1653=) n.683G= c.4888G= (p.Asp1630=) c.4954G= (p.Asp1652=) c.4879G= (p.Asp1627=) n.2734G= c.5011G= (p.Asp1671=) c.4882G= (p.Asp1628=) c.5007G= n.3170G= c.5080G= (p.Asp1694=) n.3901G= n.2338G= n.2309G= n.2199G= c.4741G= (p.Asp1581=) c.*4253G= (n.*4253G=) c.4777G= (p.Asp1593=) n.2809G= c.1268G= n.2201G= c.5140G= (p.Asp1714=) c.5137G= (p.Asp1713=) c.5029G= (p.Asp1677=) c.5008G= (p.Asp1670=) c.4354G= (p.Asp1452=) c.5302G= (p.Asp1768=) c.5050G= (p.Asp1684=) c.3796G= (p.Asp1266=) | |
16 | g.2088065G>T | CA394312051 | TSC2 | c.*3435G>T (n.*3435G>T) c.4933G>T (p.Asp1645Tyr) c.5083G>T (p.Asp1695Tyr) c.*5599G>T (n.*5599G>T) c.*7835G>T (n.*7835G>T) c.5086G>T (p.Asp1696Tyr) c.5017G>T (p.Asp1673Tyr) c.4885G>T (p.Asp1629Tyr) c.4918G>T (p.Asp1640Tyr) c.1309G>T n.2968G>T c.3740G>T c.4957G>T (p.Asp1653Tyr) n.683G>T c.4888G>T (p.Asp1630Tyr) c.4954G>T (p.Asp1652Tyr) c.4879G>T (p.Asp1627Tyr) n.2734G>T c.5011G>T (p.Asp1671Tyr) c.4882G>T (p.Asp1628Tyr) c.5007G>T n.3170G>T c.5080G>T (p.Asp1694Tyr) n.3901G>T n.2338G>T n.2309G>T n.2199G>T c.4741G>T (p.Asp1581Tyr) c.*4253G>T (n.*4253G>T) c.4777G>T (p.Asp1593Tyr) n.2809G>T c.1268G>T n.2201G>T c.5140G>T (p.Asp1714Tyr) c.5137G>T (p.Asp1713Tyr) c.5029G>T (p.Asp1677Tyr) c.5008G>T (p.Asp1670Tyr) c.4354G>T (p.Asp1452Tyr) c.5302G>T (p.Asp1768Tyr) c.5050G>T (p.Asp1684Tyr) c.3796G>T (p.Asp1266Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088066A>C | CA394312054 | TSC2 | c.*3436A>C (n.*3436A>C) c.4934A>C (p.Asp1645Ala) c.5084A>C (p.Asp1695Ala) c.*5600A>C (n.*5600A>C) c.*7836A>C (n.*7836A>C) c.5087A>C (p.Asp1696Ala) c.5018A>C (p.Asp1673Ala) c.4886A>C (p.Asp1629Ala) c.4919A>C (p.Asp1640Ala) c.1310A>C n.2969A>C c.3741A>C c.4958A>C (p.Asp1653Ala) n.684A>C c.4889A>C (p.Asp1630Ala) c.4955A>C (p.Asp1652Ala) c.4880A>C (p.Asp1627Ala) n.2735A>C c.5012A>C (p.Asp1671Ala) c.4883A>C (p.Asp1628Ala) c.5008A>C n.3171A>C c.5081A>C (p.Asp1694Ala) n.3902A>C n.2339A>C n.2310A>C n.2200A>C c.4742A>C (p.Asp1581Ala) c.*4254A>C (n.*4254A>C) c.4778A>C (p.Asp1593Ala) n.2810A>C c.1269A>C n.2202A>C c.5141A>C (p.Asp1714Ala) c.5138A>C (p.Asp1713Ala) c.5030A>C (p.Asp1677Ala) c.5009A>C (p.Asp1670Ala) c.4355A>C (p.Asp1452Ala) c.5303A>C (p.Asp1768Ala) c.5051A>C (p.Asp1684Ala) c.3797A>C (p.Asp1266Ala) | dbSNP |
16 | g.2088066A>G | CA394312068 | TSC2 | c.*3436A>G (n.*3436A>G) c.4934A>G (p.Asp1645Gly) c.5084A>G (p.Asp1695Gly) c.*5600A>G (n.*5600A>G) c.*7836A>G (n.*7836A>G) c.5087A>G (p.Asp1696Gly) c.5018A>G (p.Asp1673Gly) c.4886A>G (p.Asp1629Gly) c.4919A>G (p.Asp1640Gly) c.1310A>G n.2969A>G c.3741A>G c.4958A>G (p.Asp1653Gly) n.684A>G c.4889A>G (p.Asp1630Gly) c.4955A>G (p.Asp1652Gly) c.4880A>G (p.Asp1627Gly) n.2735A>G c.5012A>G (p.Asp1671Gly) c.4883A>G (p.Asp1628Gly) c.5008A>G n.3171A>G c.5081A>G (p.Asp1694Gly) n.3902A>G n.2339A>G n.2310A>G n.2200A>G c.4742A>G (p.Asp1581Gly) c.*4254A>G (n.*4254A>G) c.4778A>G (p.Asp1593Gly) n.2810A>G c.1269A>G n.2202A>G c.5141A>G (p.Asp1714Gly) c.5138A>G (p.Asp1713Gly) c.5030A>G (p.Asp1677Gly) c.5009A>G (p.Asp1670Gly) c.4355A>G (p.Asp1452Gly) c.5303A>G (p.Asp1768Gly) c.5051A>G (p.Asp1684Gly) c.3797A>G (p.Asp1266Gly) | dbSNP gnomAD v4 |
16 | g.2088066A>T | CA394312071 | TSC2 | c.*3436A>T (n.*3436A>T) c.4934A>T (p.Asp1645Val) c.5084A>T (p.Asp1695Val) c.*5600A>T (n.*5600A>T) c.*7836A>T (n.*7836A>T) c.5087A>T (p.Asp1696Val) c.5018A>T (p.Asp1673Val) c.4886A>T (p.Asp1629Val) c.4919A>T (p.Asp1640Val) c.1310A>T n.2969A>T c.3741A>T c.4958A>T (p.Asp1653Val) n.684A>T c.4889A>T (p.Asp1630Val) c.4955A>T (p.Asp1652Val) c.4880A>T (p.Asp1627Val) n.2735A>T c.5012A>T (p.Asp1671Val) c.4883A>T (p.Asp1628Val) c.5008A>T n.3171A>T c.5081A>T (p.Asp1694Val) n.3902A>T n.2339A>T n.2310A>T n.2200A>T c.4742A>T (p.Asp1581Val) c.*4254A>T (n.*4254A>T) c.4778A>T (p.Asp1593Val) n.2810A>T c.1269A>T n.2202A>T c.5141A>T (p.Asp1714Val) c.5138A>T (p.Asp1713Val) c.5030A>T (p.Asp1677Val) c.5009A>T (p.Asp1670Val) c.4355A>T (p.Asp1452Val) c.5303A>T (p.Asp1768Val) c.5051A>T (p.Asp1684Val) c.3797A>T (p.Asp1266Val) | dbSNP |
16 | g.2088067C>A | CA394312074 | TSC2 | c.*3437C>A (n.*3437C>A) c.4935C>A (p.Asp1645Glu) c.5085C>A (p.Asp1695Glu) c.*5601C>A (n.*5601C>A) c.*7837C>A (n.*7837C>A) c.5088C>A (p.Asp1696Glu) c.5019C>A (p.Asp1673Glu) c.4887C>A (p.Asp1629Glu) c.4920C>A (p.Asp1640Glu) c.1311C>A n.2970C>A c.3742C>A c.4959C>A (p.Asp1653Glu) n.685C>A c.4890C>A (p.Asp1630Glu) c.4956C>A (p.Asp1652Glu) c.4881C>A (p.Asp1627Glu) n.2736C>A c.5013C>A (p.Asp1671Glu) c.4884C>A (p.Asp1628Glu) c.5009C>A n.3172C>A c.5082C>A (p.Asp1694Glu) n.3903C>A n.2340C>A n.2311C>A n.2201C>A c.4743C>A (p.Asp1581Glu) c.*4255C>A (n.*4255C>A) c.4779C>A (p.Asp1593Glu) n.2811C>A c.1270C>A n.2203C>A c.5142C>A (p.Asp1714Glu) c.5139C>A (p.Asp1713Glu) c.5031C>A (p.Asp1677Glu) c.5010C>A (p.Asp1670Glu) c.4356C>A (p.Asp1452Glu) c.5304C>A (p.Asp1768Glu) c.5052C>A (p.Asp1684Glu) c.3798C>A (p.Asp1266Glu) | |
16 | g.2088067C= | CA2202030353 | TSC2 | c.*3437C= (n.*3437C=) c.4935C= (p.Asp1645=) c.5085C= (p.Asp1695=) c.*5601C= (n.*5601C=) c.*7837C= (n.*7837C=) c.5088C= (p.Asp1696=) c.5019C= (p.Asp1673=) c.4887C= (p.Asp1629=) c.4920C= (p.Asp1640=) c.1311C= n.2970C= c.3742C= c.4959C= (p.Asp1653=) n.685C= c.4890C= (p.Asp1630=) c.4956C= (p.Asp1652=) c.4881C= (p.Asp1627=) n.2736C= c.5013C= (p.Asp1671=) c.4884C= (p.Asp1628=) c.5009C= n.3172C= c.5082C= (p.Asp1694=) n.3903C= n.2340C= n.2311C= n.2201C= c.4743C= (p.Asp1581=) c.*4255C= (n.*4255C=) c.4779C= (p.Asp1593=) n.2811C= c.1270C= n.2203C= c.5142C= (p.Asp1714=) c.5139C= (p.Asp1713=) c.5031C= (p.Asp1677=) c.5010C= (p.Asp1670=) c.4356C= (p.Asp1452=) c.5304C= (p.Asp1768=) c.5052C= (p.Asp1684=) c.3798C= (p.Asp1266=) | |
16 | g.2088067C>G | CA394312080 | TSC2 | c.*3437C>G (n.*3437C>G) c.4935C>G (p.Asp1645Glu) c.5085C>G (p.Asp1695Glu) c.*5601C>G (n.*5601C>G) c.*7837C>G (n.*7837C>G) c.5088C>G (p.Asp1696Glu) c.5019C>G (p.Asp1673Glu) c.4887C>G (p.Asp1629Glu) c.4920C>G (p.Asp1640Glu) c.1311C>G n.2970C>G c.3742C>G c.4959C>G (p.Asp1653Glu) n.685C>G c.4890C>G (p.Asp1630Glu) c.4956C>G (p.Asp1652Glu) c.4881C>G (p.Asp1627Glu) n.2736C>G c.5013C>G (p.Asp1671Glu) c.4884C>G (p.Asp1628Glu) c.5009C>G n.3172C>G c.5082C>G (p.Asp1694Glu) n.3903C>G n.2340C>G n.2311C>G n.2201C>G c.4743C>G (p.Asp1581Glu) c.*4255C>G (n.*4255C>G) c.4779C>G (p.Asp1593Glu) n.2811C>G c.1270C>G n.2203C>G c.5142C>G (p.Asp1714Glu) c.5139C>G (p.Asp1713Glu) c.5031C>G (p.Asp1677Glu) c.5010C>G (p.Asp1670Glu) c.4356C>G (p.Asp1452Glu) c.5304C>G (p.Asp1768Glu) c.5052C>G (p.Asp1684Glu) c.3798C>G (p.Asp1266Glu) | dbSNP |
16 | g.2088067C>T | CA053907 | TSC2 | c.*3437C>T (n.*3437C>T) c.4935C>T (p.Asp1645=) c.5085C>T (p.Asp1695=) c.*5601C>T (n.*5601C>T) c.*7837C>T (n.*7837C>T) c.5088C>T (p.Asp1696=) c.5019C>T (p.Asp1673=) c.4887C>T (p.Asp1629=) c.4920C>T (p.Asp1640=) c.1311C>T n.2970C>T c.3742C>T c.4959C>T (p.Asp1653=) n.685C>T c.4890C>T (p.Asp1630=) c.4956C>T (p.Asp1652=) c.4881C>T (p.Asp1627=) n.2736C>T c.5013C>T (p.Asp1671=) c.4884C>T (p.Asp1628=) c.5009C>T n.3172C>T c.5082C>T (p.Asp1694=) n.3903C>T n.2340C>T n.2311C>T n.2201C>T c.4743C>T (p.Asp1581=) c.*4255C>T (n.*4255C>T) c.4779C>T (p.Asp1593=) n.2811C>T c.1270C>T n.2203C>T c.5142C>T (p.Asp1714=) c.5139C>T (p.Asp1713=) c.5031C>T (p.Asp1677=) c.5010C>T (p.Asp1670=) c.4356C>T (p.Asp1452=) c.5304C>T (p.Asp1768=) c.5052C>T (p.Asp1684=) c.3798C>T (p.Asp1266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088068_2088078dup | CA2695221736 | TSC2 | c.*3438_*3448dup (n.*3438_*3448dup) c.4936_4946dup (p.Lys1650ProfsTer?) c.5086_5096dup (p.Lys1700ProfsTer?) c.*5602_*5612dup (n.*5602_*5612dup) c.*7838_*7848dup (n.*7838_*7848dup) c.5089_5099dup (p.Lys1701ProfsTer?) c.5020_5030dup (p.Lys1678ProfsTer?) c.4888_4898dup (p.Lys1634ProfsTer?) c.4921_4931dup (p.Lys1645ProfsTer?) c.1312_1322dup n.2971_2981dup c.3743_3753dup c.4960_4970dup (p.Lys1658ProfsTer?) n.686_696dup c.4891_4901dup (p.Lys1635ProfsTer?) c.4957_4967dup (p.Lys1657ProfsTer?) c.4882_4892dup (p.Lys1632ProfsTer?) n.2737_2747dup c.5014_5024dup (p.Lys1676ProfsTer?) c.4888_4898dup (p.Lys1634ProfsTer25) c.4885_4895dup (p.Lys1633ProfsTer?) c.5010_5020dup n.3173_3183dup c.5083_5093dup (p.Lys1699ProfsTer?) n.3904_3914dup n.2341_2351dup n.2312_2322dup n.2202_2212dup c.4744_4754dup (p.Lys1586ProfsTer?) c.*4256_*4266dup (n.*4256_*4266dup) c.4780_4790dup (p.Lys1598ProfsTer?) n.2812_2822dup c.1271_1281dup n.2204_2214dup c.5143_5153dup (p.Lys1719ProfsTer?) c.5140_5150dup (p.Lys1718ProfsTer?) c.5032_5042dup (p.Lys1682ProfsTer?) c.5011_5021dup (p.Lys1675ProfsTer?) c.4357_4367dup (p.Lys1457ProfsTer?) c.5305_5315dup (p.Lys1773ProfsTer?) c.5053_5063dup (p.Lys1689ProfsTer?) c.3799_3809dup (p.Lys1271ProfsTer?) | |
16 | g.2088068A>C | CA394312088 | TSC2 | c.*3438A>C (n.*3438A>C) c.4936A>C (p.Thr1646Pro) c.5086A>C (p.Thr1696Pro) c.*5602A>C (n.*5602A>C) c.*7838A>C (n.*7838A>C) c.5089A>C (p.Thr1697Pro) c.5020A>C (p.Thr1674Pro) c.4888A>C (p.Thr1630Pro) c.4921A>C (p.Thr1641Pro) c.1312A>C n.2971A>C c.3743A>C c.4960A>C (p.Thr1654Pro) n.686A>C c.4891A>C (p.Thr1631Pro) c.4957A>C (p.Thr1653Pro) c.4882A>C (p.Thr1628Pro) n.2737A>C c.5014A>C (p.Thr1672Pro) c.4885A>C (p.Thr1629Pro) c.5010A>C n.3173A>C c.5083A>C (p.Thr1695Pro) n.3904A>C n.2341A>C n.2312A>C n.2202A>C c.4744A>C (p.Thr1582Pro) c.*4256A>C (n.*4256A>C) c.4780A>C (p.Thr1594Pro) n.2812A>C c.1271A>C n.2204A>C c.5143A>C (p.Thr1715Pro) c.5140A>C (p.Thr1714Pro) c.5032A>C (p.Thr1678Pro) c.5011A>C (p.Thr1671Pro) c.4357A>C (p.Thr1453Pro) c.5305A>C (p.Thr1769Pro) c.5053A>C (p.Thr1685Pro) c.3799A>C (p.Thr1267Pro) | |
16 | g.2088068A>G | CA394312091 | TSC2 | c.*3438A>G (n.*3438A>G) c.4936A>G (p.Thr1646Ala) c.5086A>G (p.Thr1696Ala) c.*5602A>G (n.*5602A>G) c.*7838A>G (n.*7838A>G) c.5089A>G (p.Thr1697Ala) c.5020A>G (p.Thr1674Ala) c.4888A>G (p.Thr1630Ala) c.4921A>G (p.Thr1641Ala) c.1312A>G n.2971A>G c.3743A>G c.4960A>G (p.Thr1654Ala) n.686A>G c.4891A>G (p.Thr1631Ala) c.4957A>G (p.Thr1653Ala) c.4882A>G (p.Thr1628Ala) n.2737A>G c.5014A>G (p.Thr1672Ala) c.4885A>G (p.Thr1629Ala) c.5010A>G n.3173A>G c.5083A>G (p.Thr1695Ala) n.3904A>G n.2341A>G n.2312A>G n.2202A>G c.4744A>G (p.Thr1582Ala) c.*4256A>G (n.*4256A>G) c.4780A>G (p.Thr1594Ala) n.2812A>G c.1271A>G n.2204A>G c.5143A>G (p.Thr1715Ala) c.5140A>G (p.Thr1714Ala) c.5032A>G (p.Thr1678Ala) c.5011A>G (p.Thr1671Ala) c.4357A>G (p.Thr1453Ala) c.5305A>G (p.Thr1769Ala) c.5053A>G (p.Thr1685Ala) c.3799A>G (p.Thr1267Ala) | ClinVar dbSNP |
16 | g.2088068A>T | CA394312095 | TSC2 | c.*3438A>T (n.*3438A>T) c.4936A>T (p.Thr1646Ser) c.5086A>T (p.Thr1696Ser) c.*5602A>T (n.*5602A>T) c.*7838A>T (n.*7838A>T) c.5089A>T (p.Thr1697Ser) c.5020A>T (p.Thr1674Ser) c.4888A>T (p.Thr1630Ser) c.4921A>T (p.Thr1641Ser) c.1312A>T n.2971A>T c.3743A>T c.4960A>T (p.Thr1654Ser) n.686A>T c.4891A>T (p.Thr1631Ser) c.4957A>T (p.Thr1653Ser) c.4882A>T (p.Thr1628Ser) n.2737A>T c.5014A>T (p.Thr1672Ser) c.4885A>T (p.Thr1629Ser) c.5010A>T n.3173A>T c.5083A>T (p.Thr1695Ser) n.3904A>T n.2341A>T n.2312A>T n.2202A>T c.4744A>T (p.Thr1582Ser) c.*4256A>T (n.*4256A>T) c.4780A>T (p.Thr1594Ser) n.2812A>T c.1271A>T n.2204A>T c.5143A>T (p.Thr1715Ser) c.5140A>T (p.Thr1714Ser) c.5032A>T (p.Thr1678Ser) c.5011A>T (p.Thr1671Ser) c.4357A>T (p.Thr1453Ser) c.5305A>T (p.Thr1769Ser) c.5053A>T (p.Thr1685Ser) c.3799A>T (p.Thr1267Ser) | |
16 | g.2088069C>A | CA394312100 | TSC2 | c.*3439C>A (n.*3439C>A) c.4937C>A (p.Thr1646Asn) c.5087C>A (p.Thr1696Asn) c.*5603C>A (n.*5603C>A) c.*7839C>A (n.*7839C>A) c.5090C>A (p.Thr1697Asn) c.5021C>A (p.Thr1674Asn) c.4889C>A (p.Thr1630Asn) c.4922C>A (p.Thr1641Asn) c.1313C>A n.2972C>A c.3744C>A c.4961C>A (p.Thr1654Asn) n.687C>A c.4892C>A (p.Thr1631Asn) c.4958C>A (p.Thr1653Asn) c.4883C>A (p.Thr1628Asn) n.2738C>A c.5015C>A (p.Thr1672Asn) c.4886C>A (p.Thr1629Asn) c.5011C>A n.3174C>A c.5084C>A (p.Thr1695Asn) n.3905C>A n.2342C>A n.2313C>A n.2203C>A c.4745C>A (p.Thr1582Asn) c.*4257C>A (n.*4257C>A) c.4781C>A (p.Thr1594Asn) n.2813C>A c.1272C>A n.2205C>A c.5144C>A (p.Thr1715Asn) c.5141C>A (p.Thr1714Asn) c.5033C>A (p.Thr1678Asn) c.5012C>A (p.Thr1671Asn) c.4358C>A (p.Thr1453Asn) c.5306C>A (p.Thr1769Asn) c.5054C>A (p.Thr1685Asn) c.3800C>A (p.Thr1267Asn) | ClinVar dbSNP |
16 | g.2088069C= | CA2202030362 | TSC2 | c.*3439C= (n.*3439C=) c.4937C= (p.Thr1646=) c.5087C= (p.Thr1696=) c.*5603C= (n.*5603C=) c.*7839C= (n.*7839C=) c.5090C= (p.Thr1697=) c.5021C= (p.Thr1674=) c.4889C= (p.Thr1630=) c.4922C= (p.Thr1641=) c.1313C= n.2972C= c.3744C= c.4961C= (p.Thr1654=) n.687C= c.4892C= (p.Thr1631=) c.4958C= (p.Thr1653=) c.4883C= (p.Thr1628=) n.2738C= c.5015C= (p.Thr1672=) c.4886C= (p.Thr1629=) c.5011C= n.3174C= c.5084C= (p.Thr1695=) n.3905C= n.2342C= n.2313C= n.2203C= c.4745C= (p.Thr1582=) c.*4257C= (n.*4257C=) c.4781C= (p.Thr1594=) n.2813C= c.1272C= n.2205C= c.5144C= (p.Thr1715=) c.5141C= (p.Thr1714=) c.5033C= (p.Thr1678=) c.5012C= (p.Thr1671=) c.4358C= (p.Thr1453=) c.5306C= (p.Thr1769=) c.5054C= (p.Thr1685=) c.3800C= (p.Thr1267=) | |
16 | g.2088069C>G | CA394312103 | TSC2 | c.*3439C>G (n.*3439C>G) c.4937C>G (p.Thr1646Ser) c.5087C>G (p.Thr1696Ser) c.*5603C>G (n.*5603C>G) c.*7839C>G (n.*7839C>G) c.5090C>G (p.Thr1697Ser) c.5021C>G (p.Thr1674Ser) c.4889C>G (p.Thr1630Ser) c.4922C>G (p.Thr1641Ser) c.1313C>G n.2972C>G c.3744C>G c.4961C>G (p.Thr1654Ser) n.687C>G c.4892C>G (p.Thr1631Ser) c.4958C>G (p.Thr1653Ser) c.4883C>G (p.Thr1628Ser) n.2738C>G c.5015C>G (p.Thr1672Ser) c.4886C>G (p.Thr1629Ser) c.5011C>G n.3174C>G c.5084C>G (p.Thr1695Ser) n.3905C>G n.2342C>G n.2313C>G n.2203C>G c.4745C>G (p.Thr1582Ser) c.*4257C>G (n.*4257C>G) c.4781C>G (p.Thr1594Ser) n.2813C>G c.1272C>G n.2205C>G c.5144C>G (p.Thr1715Ser) c.5141C>G (p.Thr1714Ser) c.5033C>G (p.Thr1678Ser) c.5012C>G (p.Thr1671Ser) c.4358C>G (p.Thr1453Ser) c.5306C>G (p.Thr1769Ser) c.5054C>G (p.Thr1685Ser) c.3800C>G (p.Thr1267Ser) | ClinVar dbSNP |
16 | g.2088069C>T | CA276758837 | TSC2 | c.*3439C>T (n.*3439C>T) c.4937C>T (p.Thr1646Ile) c.5087C>T (p.Thr1696Ile) c.*5603C>T (n.*5603C>T) c.*7839C>T (n.*7839C>T) c.5090C>T (p.Thr1697Ile) c.5021C>T (p.Thr1674Ile) c.4889C>T (p.Thr1630Ile) c.4922C>T (p.Thr1641Ile) c.1313C>T n.2972C>T c.3744C>T c.4961C>T (p.Thr1654Ile) n.687C>T c.4892C>T (p.Thr1631Ile) c.4958C>T (p.Thr1653Ile) c.4883C>T (p.Thr1628Ile) n.2738C>T c.5015C>T (p.Thr1672Ile) c.4886C>T (p.Thr1629Ile) c.5011C>T n.3174C>T c.5084C>T (p.Thr1695Ile) n.3905C>T n.2342C>T n.2313C>T n.2203C>T c.4745C>T (p.Thr1582Ile) c.*4257C>T (n.*4257C>T) c.4781C>T (p.Thr1594Ile) n.2813C>T c.1272C>T n.2205C>T c.5144C>T (p.Thr1715Ile) c.5141C>T (p.Thr1714Ile) c.5033C>T (p.Thr1678Ile) c.5012C>T (p.Thr1671Ile) c.4358C>T (p.Thr1453Ile) c.5306C>T (p.Thr1769Ile) c.5054C>T (p.Thr1685Ile) c.3800C>T (p.Thr1267Ile) | dbSNP gnomAD v4 |
16 | g.2088070dup | CA913184883 | TSC2 | c.*3440dup (n.*3440dup) c.4938dup (p.Ser1647GlnfsTer8) c.5088dup (p.Ser1697GlnfsTer8) c.*5604dup (n.*5604dup) c.*7840dup (n.*7840dup) c.5091dup (p.Ser1698GlnfsTer8) c.5022dup (p.Ser1675GlnfsTer8) c.4890dup (p.Ser1631GlnfsTer8) c.4923dup (p.Ser1642GlnfsTer8) c.1314dup n.2973dup c.3745dup c.4962dup (p.Ser1655GlnfsTer8) n.688dup c.4893dup (p.Ser1632GlnfsTer8) c.4959dup (p.Ser1654GlnfsTer8) c.4884dup (p.Ser1629GlnfsTer8) n.2739dup c.5016dup (p.Ser1673GlnfsTer8) c.4887dup (p.Ser1630GlnfsTer8) c.5012dup n.3175dup c.5085dup (p.Ser1696GlnfsTer8) n.3906dup n.2343dup n.2314dup n.2204dup c.4746dup (p.Ser1583GlnfsTer8) c.*4258dup (n.*4258dup) c.4782dup (p.Ser1595GlnfsTer8) n.2814dup c.1273dup n.2206dup c.5145dup (p.Ser1716GlnfsTer8) c.5142dup (p.Ser1715GlnfsTer8) c.5034dup (p.Ser1679GlnfsTer8) c.5013dup (p.Ser1672GlnfsTer8) c.4359dup (p.Ser1454GlnfsTer8) c.5307dup (p.Ser1770GlnfsTer8) c.5055dup (p.Ser1686GlnfsTer8) c.3801dup (p.Ser1268GlnfsTer8) | |
16 | g.2088069_2088071delinsAG | CA2695221737 | TSC2 | c.*3439_*3441delinsAG (n.*3439_*3441delinsAG) c.4937_4939delinsAG (p.Thr1646LysfsTer?) c.5087_5089delinsAG (p.Thr1696LysfsTer?) c.*5603_*5605delinsAG (n.*5603_*5605delinsAG) c.*7839_*7841delinsAG (n.*7839_*7841delinsAG) c.5090_5092delinsAG (p.Thr1697LysfsTer?) c.5021_5023delinsAG (p.Thr1674LysfsTer?) c.4889_4891delinsAG (p.Thr1630LysfsTer?) c.4922_4924delinsAG (p.Thr1641LysfsTer?) c.1313_1315delinsAG n.2972_2974delinsAG c.3744_3746delinsAG c.4961_4963delinsAG (p.Thr1654LysfsTer?) n.687_689delinsAG c.4892_4894delinsAG (p.Thr1631LysfsTer?) c.4958_4960delinsAG (p.Thr1653LysfsTer?) c.4883_4885delinsAG (p.Thr1628LysfsTer?) n.2738_2740delinsAG c.5015_5017delinsAG (p.Thr1672LysfsTer?) c.4889_4891delinsAG (p.Thr1630LysfsTer25) c.4886_4888delinsAG (p.Thr1629LysfsTer?) c.5011_5013delinsAG n.3174_3176delinsAG c.5084_5086delinsAG (p.Thr1695LysfsTer?) n.3905_3907delinsAG n.2342_2344delinsAG n.2313_2315delinsAG n.2203_2205delinsAG c.4745_4747delinsAG (p.Thr1582LysfsTer?) c.*4257_*4259delinsAG (n.*4257_*4259delinsAG) c.4781_4783delinsAG (p.Thr1594LysfsTer?) n.2813_2815delinsAG c.1272_1274delinsAG n.2205_2207delinsAG c.5144_5146delinsAG (p.Thr1715LysfsTer?) c.5141_5143delinsAG (p.Thr1714LysfsTer?) c.5033_5035delinsAG (p.Thr1678LysfsTer?) c.5012_5014delinsAG (p.Thr1671LysfsTer?) c.4358_4360delinsAG (p.Thr1453LysfsTer?) c.5306_5308delinsAG (p.Thr1769LysfsTer?) c.5054_5056delinsAG (p.Thr1685LysfsTer?) c.3800_3802delinsAG (p.Thr1267LysfsTer?) | |
16 | g.2088070C>A | CA493043640 | TSC2 | c.*3440C>A (n.*3440C>A) c.4938C>A (p.Thr1646=) c.5088C>A (p.Thr1696=) c.*5604C>A (n.*5604C>A) c.*7840C>A (n.*7840C>A) c.5091C>A (p.Thr1697=) c.5022C>A (p.Thr1674=) c.4890C>A (p.Thr1630=) c.4923C>A (p.Thr1641=) c.1314C>A n.2973C>A c.3745C>A c.4962C>A (p.Thr1654=) n.688C>A c.4893C>A (p.Thr1631=) c.4959C>A (p.Thr1653=) c.4884C>A (p.Thr1628=) n.2739C>A c.5016C>A (p.Thr1672=) c.4887C>A (p.Thr1629=) c.5012C>A n.3175C>A c.5085C>A (p.Thr1695=) n.3906C>A n.2343C>A n.2314C>A n.2204C>A c.4746C>A (p.Thr1582=) c.*4258C>A (n.*4258C>A) c.4782C>A (p.Thr1594=) n.2814C>A c.1273C>A n.2206C>A c.5145C>A (p.Thr1715=) c.5142C>A (p.Thr1714=) c.5034C>A (p.Thr1678=) c.5013C>A (p.Thr1671=) c.4359C>A (p.Thr1453=) c.5307C>A (p.Thr1769=) c.5055C>A (p.Thr1685=) c.3801C>A (p.Thr1267=) | |
16 | g.2088070C= | CA2202030368 | TSC2 | c.*3440C= (n.*3440C=) c.4938C= (p.Thr1646=) c.5088C= (p.Thr1696=) c.*5604C= (n.*5604C=) c.*7840C= (n.*7840C=) c.5091C= (p.Thr1697=) c.5022C= (p.Thr1674=) c.4890C= (p.Thr1630=) c.4923C= (p.Thr1641=) c.1314C= n.2973C= c.3745C= c.4962C= (p.Thr1654=) n.688C= c.4893C= (p.Thr1631=) c.4959C= (p.Thr1653=) c.4884C= (p.Thr1628=) n.2739C= c.5016C= (p.Thr1672=) c.4887C= (p.Thr1629=) c.5012C= n.3175C= c.5085C= (p.Thr1695=) n.3906C= n.2343C= n.2314C= n.2204C= c.4746C= (p.Thr1582=) c.*4258C= (n.*4258C=) c.4782C= (p.Thr1594=) n.2814C= c.1273C= n.2206C= c.5145C= (p.Thr1715=) c.5142C= (p.Thr1714=) c.5034C= (p.Thr1678=) c.5013C= (p.Thr1671=) c.4359C= (p.Thr1453=) c.5307C= (p.Thr1769=) c.5055C= (p.Thr1685=) c.3801C= (p.Thr1267=) | |
16 | g.2088070C>G | CA493043641 | TSC2 | c.*3440C>G (n.*3440C>G) c.4938C>G (p.Thr1646=) c.5088C>G (p.Thr1696=) c.*5604C>G (n.*5604C>G) c.*7840C>G (n.*7840C>G) c.5091C>G (p.Thr1697=) c.5022C>G (p.Thr1674=) c.4890C>G (p.Thr1630=) c.4923C>G (p.Thr1641=) c.1314C>G n.2973C>G c.3745C>G c.4962C>G (p.Thr1654=) n.688C>G c.4893C>G (p.Thr1631=) c.4959C>G (p.Thr1653=) c.4884C>G (p.Thr1628=) n.2739C>G c.5016C>G (p.Thr1672=) c.4887C>G (p.Thr1629=) c.5012C>G n.3175C>G c.5085C>G (p.Thr1695=) n.3906C>G n.2343C>G n.2314C>G n.2204C>G c.4746C>G (p.Thr1582=) c.*4258C>G (n.*4258C>G) c.4782C>G (p.Thr1594=) n.2814C>G c.1273C>G n.2206C>G c.5145C>G (p.Thr1715=) c.5142C>G (p.Thr1714=) c.5034C>G (p.Thr1678=) c.5013C>G (p.Thr1671=) c.4359C>G (p.Thr1453=) c.5307C>G (p.Thr1769=) c.5055C>G (p.Thr1685=) c.3801C>G (p.Thr1267=) | dbSNP gnomAD v4 |
16 | g.2088070C>T | CA053915 | TSC2 | c.*3440C>T (n.*3440C>T) c.4938C>T (p.Thr1646=) c.5088C>T (p.Thr1696=) c.*5604C>T (n.*5604C>T) c.*7840C>T (n.*7840C>T) c.5091C>T (p.Thr1697=) c.5022C>T (p.Thr1674=) c.4890C>T (p.Thr1630=) c.4923C>T (p.Thr1641=) c.1314C>T n.2973C>T c.3745C>T c.4962C>T (p.Thr1654=) n.688C>T c.4893C>T (p.Thr1631=) c.4959C>T (p.Thr1653=) c.4884C>T (p.Thr1628=) n.2739C>T c.5016C>T (p.Thr1672=) c.4887C>T (p.Thr1629=) c.5012C>T n.3175C>T c.5085C>T (p.Thr1695=) n.3906C>T n.2343C>T n.2314C>T n.2204C>T c.4746C>T (p.Thr1582=) c.*4258C>T (n.*4258C>T) c.4782C>T (p.Thr1594=) n.2814C>T c.1273C>T n.2206C>T c.5145C>T (p.Thr1715=) c.5142C>T (p.Thr1714=) c.5034C>T (p.Thr1678=) c.5013C>T (p.Thr1671=) c.4359C>T (p.Thr1453=) c.5307C>T (p.Thr1769=) c.5055C>T (p.Thr1685=) c.3801C>T (p.Thr1267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088071A= | CA2202030373 | TSC2 | c.*3441A= (n.*3441A=) c.4939A= (p.Ser1647=) c.5089A= (p.Ser1697=) c.*5605A= (n.*5605A=) c.*7841A= (n.*7841A=) c.5092A= (p.Ser1698=) c.5023A= (p.Ser1675=) c.4891A= (p.Ser1631=) c.4924A= (p.Ser1642=) c.1315A= n.2974A= c.3746A= c.4963A= (p.Ser1655=) n.689A= c.4894A= (p.Ser1632=) c.4960A= (p.Ser1654=) c.4885A= (p.Ser1629=) n.2740A= c.5017A= (p.Ser1673=) c.4888A= (p.Ser1630=) c.5013A= n.3176A= c.5086A= (p.Ser1696=) n.3907A= n.2344A= n.2315A= n.2205A= c.4747A= (p.Ser1583=) c.*4259A= (n.*4259A=) c.4783A= (p.Ser1595=) n.2815A= c.1274A= n.2207A= c.5146A= (p.Ser1716=) c.5143A= (p.Ser1715=) c.5035A= (p.Ser1679=) c.5014A= (p.Ser1672=) c.4360A= (p.Ser1454=) c.5308A= (p.Ser1770=) c.5056A= (p.Ser1686=) c.3802A= (p.Ser1268=) | |
16 | g.2088071A>C | CA394312112 | TSC2 | c.*3441A>C (n.*3441A>C) c.4939A>C (p.Ser1647Arg) c.5089A>C (p.Ser1697Arg) c.*5605A>C (n.*5605A>C) c.*7841A>C (n.*7841A>C) c.5092A>C (p.Ser1698Arg) c.5023A>C (p.Ser1675Arg) c.4891A>C (p.Ser1631Arg) c.4924A>C (p.Ser1642Arg) c.1315A>C n.2974A>C c.3746A>C c.4963A>C (p.Ser1655Arg) n.689A>C c.4894A>C (p.Ser1632Arg) c.4960A>C (p.Ser1654Arg) c.4885A>C (p.Ser1629Arg) n.2740A>C c.5017A>C (p.Ser1673Arg) c.4888A>C (p.Ser1630Arg) c.5013A>C n.3176A>C c.5086A>C (p.Ser1696Arg) n.3907A>C n.2344A>C n.2315A>C n.2205A>C c.4747A>C (p.Ser1583Arg) c.*4259A>C (n.*4259A>C) c.4783A>C (p.Ser1595Arg) n.2815A>C c.1274A>C n.2207A>C c.5146A>C (p.Ser1716Arg) c.5143A>C (p.Ser1715Arg) c.5035A>C (p.Ser1679Arg) c.5014A>C (p.Ser1672Arg) c.4360A>C (p.Ser1454Arg) c.5308A>C (p.Ser1770Arg) c.5056A>C (p.Ser1686Arg) c.3802A>C (p.Ser1268Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088071A>G | CA394312114 | TSC2 | c.*3441A>G (n.*3441A>G) c.4939A>G (p.Ser1647Gly) c.5089A>G (p.Ser1697Gly) c.*5605A>G (n.*5605A>G) c.*7841A>G (n.*7841A>G) c.5092A>G (p.Ser1698Gly) c.5023A>G (p.Ser1675Gly) c.4891A>G (p.Ser1631Gly) c.4924A>G (p.Ser1642Gly) c.1315A>G n.2974A>G c.3746A>G c.4963A>G (p.Ser1655Gly) n.689A>G c.4894A>G (p.Ser1632Gly) c.4960A>G (p.Ser1654Gly) c.4885A>G (p.Ser1629Gly) n.2740A>G c.5017A>G (p.Ser1673Gly) c.4888A>G (p.Ser1630Gly) c.5013A>G n.3176A>G c.5086A>G (p.Ser1696Gly) n.3907A>G n.2344A>G n.2315A>G n.2205A>G c.4747A>G (p.Ser1583Gly) c.*4259A>G (n.*4259A>G) c.4783A>G (p.Ser1595Gly) n.2815A>G c.1274A>G n.2207A>G c.5146A>G (p.Ser1716Gly) c.5143A>G (p.Ser1715Gly) c.5035A>G (p.Ser1679Gly) c.5014A>G (p.Ser1672Gly) c.4360A>G (p.Ser1454Gly) c.5308A>G (p.Ser1770Gly) c.5056A>G (p.Ser1686Gly) c.3802A>G (p.Ser1268Gly) | dbSNP |
16 | g.2088071A>T | CA394312124 | TSC2 | c.*3441A>T (n.*3441A>T) c.4939A>T (p.Ser1647Cys) c.5089A>T (p.Ser1697Cys) c.*5605A>T (n.*5605A>T) c.*7841A>T (n.*7841A>T) c.5092A>T (p.Ser1698Cys) c.5023A>T (p.Ser1675Cys) c.4891A>T (p.Ser1631Cys) c.4924A>T (p.Ser1642Cys) c.1315A>T n.2974A>T c.3746A>T c.4963A>T (p.Ser1655Cys) n.689A>T c.4894A>T (p.Ser1632Cys) c.4960A>T (p.Ser1654Cys) c.4885A>T (p.Ser1629Cys) n.2740A>T c.5017A>T (p.Ser1673Cys) c.4888A>T (p.Ser1630Cys) c.5013A>T n.3176A>T c.5086A>T (p.Ser1696Cys) n.3907A>T n.2344A>T n.2315A>T n.2205A>T c.4747A>T (p.Ser1583Cys) c.*4259A>T (n.*4259A>T) c.4783A>T (p.Ser1595Cys) n.2815A>T c.1274A>T n.2207A>T c.5146A>T (p.Ser1716Cys) c.5143A>T (p.Ser1715Cys) c.5035A>T (p.Ser1679Cys) c.5014A>T (p.Ser1672Cys) c.4360A>T (p.Ser1454Cys) c.5308A>T (p.Ser1770Cys) c.5056A>T (p.Ser1686Cys) c.3802A>T (p.Ser1268Cys) | dbSNP |
16 | g.2088072G>A | CA394312133 | TSC2 | c.*3442G>A (n.*3442G>A) c.4940G>A (p.Ser1647Asn) c.5090G>A (p.Ser1697Asn) c.*5606G>A (n.*5606G>A) c.*7842G>A (n.*7842G>A) c.5093G>A (p.Ser1698Asn) c.5024G>A (p.Ser1675Asn) c.4892G>A (p.Ser1631Asn) c.4925G>A (p.Ser1642Asn) c.1316G>A n.2975G>A c.3747G>A c.4964G>A (p.Ser1655Asn) n.690G>A c.4895G>A (p.Ser1632Asn) c.4961G>A (p.Ser1654Asn) c.4886G>A (p.Ser1629Asn) n.2741G>A c.5018G>A (p.Ser1673Asn) c.4889G>A (p.Ser1630Asn) c.5014G>A n.3177G>A c.5087G>A (p.Ser1696Asn) n.3908G>A n.2345G>A n.2316G>A n.2206G>A c.4748G>A (p.Ser1583Asn) c.*4260G>A (n.*4260G>A) c.4784G>A (p.Ser1595Asn) n.2816G>A c.1275G>A n.2208G>A c.5147G>A (p.Ser1716Asn) c.5144G>A (p.Ser1715Asn) c.5036G>A (p.Ser1679Asn) c.5015G>A (p.Ser1672Asn) c.4361G>A (p.Ser1454Asn) c.5309G>A (p.Ser1770Asn) c.5057G>A (p.Ser1686Asn) c.3803G>A (p.Ser1268Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088072G>C | CA394312131 | TSC2 | c.*3442G>C (n.*3442G>C) c.4940G>C (p.Ser1647Thr) c.5090G>C (p.Ser1697Thr) c.*5606G>C (n.*5606G>C) c.*7842G>C (n.*7842G>C) c.5093G>C (p.Ser1698Thr) c.5024G>C (p.Ser1675Thr) c.4892G>C (p.Ser1631Thr) c.4925G>C (p.Ser1642Thr) c.1316G>C n.2975G>C c.3747G>C c.4964G>C (p.Ser1655Thr) n.690G>C c.4895G>C (p.Ser1632Thr) c.4961G>C (p.Ser1654Thr) c.4886G>C (p.Ser1629Thr) n.2741G>C c.5018G>C (p.Ser1673Thr) c.4889G>C (p.Ser1630Thr) c.5014G>C n.3177G>C c.5087G>C (p.Ser1696Thr) n.3908G>C n.2345G>C n.2316G>C n.2206G>C c.4748G>C (p.Ser1583Thr) c.*4260G>C (n.*4260G>C) c.4784G>C (p.Ser1595Thr) n.2816G>C c.1275G>C n.2208G>C c.5147G>C (p.Ser1716Thr) c.5144G>C (p.Ser1715Thr) c.5036G>C (p.Ser1679Thr) c.5015G>C (p.Ser1672Thr) c.4361G>C (p.Ser1454Thr) c.5309G>C (p.Ser1770Thr) c.5057G>C (p.Ser1686Thr) c.3803G>C (p.Ser1268Thr) | ClinVar dbSNP |
16 | g.2088072G= | CA2202030380 | TSC2 | c.*3442G= (n.*3442G=) c.4940G= (p.Ser1647=) c.5090G= (p.Ser1697=) c.*5606G= (n.*5606G=) c.*7842G= (n.*7842G=) c.5093G= (p.Ser1698=) c.5024G= (p.Ser1675=) c.4892G= (p.Ser1631=) c.4925G= (p.Ser1642=) c.1316G= n.2975G= c.3747G= c.4964G= (p.Ser1655=) n.690G= c.4895G= (p.Ser1632=) c.4961G= (p.Ser1654=) c.4886G= (p.Ser1629=) n.2741G= c.5018G= (p.Ser1673=) c.4889G= (p.Ser1630=) c.5014G= n.3177G= c.5087G= (p.Ser1696=) n.3908G= n.2345G= n.2316G= n.2206G= c.4748G= (p.Ser1583=) c.*4260G= (n.*4260G=) c.4784G= (p.Ser1595=) n.2816G= c.1275G= n.2208G= c.5147G= (p.Ser1716=) c.5144G= (p.Ser1715=) c.5036G= (p.Ser1679=) c.5015G= (p.Ser1672=) c.4361G= (p.Ser1454=) c.5309G= (p.Ser1770=) c.5057G= (p.Ser1686=) c.3803G= (p.Ser1268=) | |
16 | g.2088072G>T | CA394312127 | TSC2 | c.*3442G>T (n.*3442G>T) c.4940G>T (p.Ser1647Ile) c.5090G>T (p.Ser1697Ile) c.*5606G>T (n.*5606G>T) c.*7842G>T (n.*7842G>T) c.5093G>T (p.Ser1698Ile) c.5024G>T (p.Ser1675Ile) c.4892G>T (p.Ser1631Ile) c.4925G>T (p.Ser1642Ile) c.1316G>T n.2975G>T c.3747G>T c.4964G>T (p.Ser1655Ile) n.690G>T c.4895G>T (p.Ser1632Ile) c.4961G>T (p.Ser1654Ile) c.4886G>T (p.Ser1629Ile) n.2741G>T c.5018G>T (p.Ser1673Ile) c.4889G>T (p.Ser1630Ile) c.5014G>T n.3177G>T c.5087G>T (p.Ser1696Ile) n.3908G>T n.2345G>T n.2316G>T n.2206G>T c.4748G>T (p.Ser1583Ile) c.*4260G>T (n.*4260G>T) c.4784G>T (p.Ser1595Ile) n.2816G>T c.1275G>T n.2208G>T c.5147G>T (p.Ser1716Ile) c.5144G>T (p.Ser1715Ile) c.5036G>T (p.Ser1679Ile) c.5015G>T (p.Ser1672Ile) c.4361G>T (p.Ser1454Ile) c.5309G>T (p.Ser1770Ile) c.5057G>T (p.Ser1686Ile) c.3803G>T (p.Ser1268Ile) | |
16 | g.2088073C>A | CA021705 | TSC2 | c.*3443C>A (n.*3443C>A) c.4941C>A (p.Ser1647Arg) c.5091C>A (p.Ser1697Arg) c.*5607C>A (n.*5607C>A) c.*7843C>A (n.*7843C>A) c.5094C>A (p.Ser1698Arg) c.5025C>A (p.Ser1675Arg) c.4893C>A (p.Ser1631Arg) c.4926C>A (p.Ser1642Arg) c.1317C>A n.2976C>A c.3748C>A c.4965C>A (p.Ser1655Arg) n.691C>A c.4896C>A (p.Ser1632Arg) c.4962C>A (p.Ser1654Arg) c.4887C>A (p.Ser1629Arg) n.2742C>A c.5019C>A (p.Ser1673Arg) c.4890C>A (p.Ser1630Arg) c.5015C>A n.3178C>A c.5088C>A (p.Ser1696Arg) n.3909C>A n.2346C>A n.2317C>A n.2207C>A c.4749C>A (p.Ser1583Arg) c.*4261C>A (n.*4261C>A) c.4785C>A (p.Ser1595Arg) n.2817C>A c.1276C>A n.2209C>A c.5148C>A (p.Ser1716Arg) c.5145C>A (p.Ser1715Arg) c.5037C>A (p.Ser1679Arg) c.5016C>A (p.Ser1672Arg) c.4362C>A (p.Ser1454Arg) c.5310C>A (p.Ser1770Arg) c.5058C>A (p.Ser1686Arg) c.3804C>A (p.Ser1268Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088073C= | CA2202030397 | TSC2 | c.*3443C= (n.*3443C=) c.4941C= (p.Ser1647=) c.5091C= (p.Ser1697=) c.*5607C= (n.*5607C=) c.*7843C= (n.*7843C=) c.5094C= (p.Ser1698=) c.5025C= (p.Ser1675=) c.4893C= (p.Ser1631=) c.4926C= (p.Ser1642=) c.1317C= n.2976C= c.3748C= c.4965C= (p.Ser1655=) n.691C= c.4896C= (p.Ser1632=) c.4962C= (p.Ser1654=) c.4887C= (p.Ser1629=) n.2742C= c.5019C= (p.Ser1673=) c.4890C= (p.Ser1630=) c.5015C= n.3178C= c.5088C= (p.Ser1696=) n.3909C= n.2346C= n.2317C= n.2207C= c.4749C= (p.Ser1583=) c.*4261C= (n.*4261C=) c.4785C= (p.Ser1595=) n.2817C= c.1276C= n.2209C= c.5148C= (p.Ser1716=) c.5145C= (p.Ser1715=) c.5037C= (p.Ser1679=) c.5016C= (p.Ser1672=) c.4362C= (p.Ser1454=) c.5310C= (p.Ser1770=) c.5058C= (p.Ser1686=) c.3804C= (p.Ser1268=) | |
16 | g.2088073C>G | CA394312138 | TSC2 | c.*3443C>G (n.*3443C>G) c.4941C>G (p.Ser1647Arg) c.5091C>G (p.Ser1697Arg) c.*5607C>G (n.*5607C>G) c.*7843C>G (n.*7843C>G) c.5094C>G (p.Ser1698Arg) c.5025C>G (p.Ser1675Arg) c.4893C>G (p.Ser1631Arg) c.4926C>G (p.Ser1642Arg) c.1317C>G n.2976C>G c.3748C>G c.4965C>G (p.Ser1655Arg) n.691C>G c.4896C>G (p.Ser1632Arg) c.4962C>G (p.Ser1654Arg) c.4887C>G (p.Ser1629Arg) n.2742C>G c.5019C>G (p.Ser1673Arg) c.4890C>G (p.Ser1630Arg) c.5015C>G n.3178C>G c.5088C>G (p.Ser1696Arg) n.3909C>G n.2346C>G n.2317C>G n.2207C>G c.4749C>G (p.Ser1583Arg) c.*4261C>G (n.*4261C>G) c.4785C>G (p.Ser1595Arg) n.2817C>G c.1276C>G n.2209C>G c.5148C>G (p.Ser1716Arg) c.5145C>G (p.Ser1715Arg) c.5037C>G (p.Ser1679Arg) c.5016C>G (p.Ser1672Arg) c.4362C>G (p.Ser1454Arg) c.5310C>G (p.Ser1770Arg) c.5058C>G (p.Ser1686Arg) c.3804C>G (p.Ser1268Arg) | dbSNP |
16 | g.2088073C>T | CA021712 | TSC2 | c.*3443C>T (n.*3443C>T) c.4941C>T (p.Ser1647=) c.5091C>T (p.Ser1697=) c.*5607C>T (n.*5607C>T) c.*7843C>T (n.*7843C>T) c.5094C>T (p.Ser1698=) c.5025C>T (p.Ser1675=) c.4893C>T (p.Ser1631=) c.4926C>T (p.Ser1642=) c.1317C>T n.2976C>T c.3748C>T c.4965C>T (p.Ser1655=) n.691C>T c.4896C>T (p.Ser1632=) c.4962C>T (p.Ser1654=) c.4887C>T (p.Ser1629=) n.2742C>T c.5019C>T (p.Ser1673=) c.4890C>T (p.Ser1630=) c.5015C>T n.3178C>T c.5088C>T (p.Ser1696=) n.3909C>T n.2346C>T n.2317C>T n.2207C>T c.4749C>T (p.Ser1583=) c.*4261C>T (n.*4261C>T) c.4785C>T (p.Ser1595=) n.2817C>T c.1276C>T n.2209C>T c.5148C>T (p.Ser1716=) c.5145C>T (p.Ser1715=) c.5037C>T (p.Ser1679=) c.5016C>T (p.Ser1672=) c.4362C>T (p.Ser1454=) c.5310C>T (p.Ser1770=) c.5058C>T (p.Ser1686=) c.3804C>T (p.Ser1268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088074del | CA2831039418 | TSC2 | c.*3444del (n.*3444del) c.4942del (p.Val1648TrpfsTer?) c.5092del (p.Val1698TrpfsTer?) c.*5608del (n.*5608del) c.*7844del (n.*7844del) c.5095del (p.Val1699TrpfsTer?) c.5026del (p.Val1676TrpfsTer?) c.4894del (p.Val1632TrpfsTer?) c.4927del (p.Val1643TrpfsTer?) c.1318del n.2977del c.3749del c.4966del (p.Val1656TrpfsTer?) n.692del c.4897del (p.Val1633TrpfsTer?) c.4963del (p.Val1655TrpfsTer?) c.4888del (p.Val1630TrpfsTer?) n.2743del c.5020del (p.Val1674TrpfsTer?) c.4894del (p.Val1632TrpfsTer23) c.4891del (p.Val1631TrpfsTer?) c.5016del n.3179del c.5089del (p.Val1697TrpfsTer?) n.3910del n.2347del n.2318del n.2208del c.4750del (p.Val1584TrpfsTer?) c.*4262del (n.*4262del) c.4786del (p.Val1596TrpfsTer?) n.2818del c.1277del n.2210del c.5149del (p.Val1717TrpfsTer?) c.5146del (p.Val1716TrpfsTer?) c.5038del (p.Val1680TrpfsTer?) c.5017del (p.Val1673TrpfsTer?) c.4363del (p.Val1455TrpfsTer?) c.5311del (p.Val1771TrpfsTer?) c.5059del (p.Val1687TrpfsTer?) c.3805del (p.Val1269TrpfsTer?) | |
16 | g.2088074G>A | CA053941 | TSC2 | c.*3444G>A (n.*3444G>A) c.4942G>A (p.Val1648Met) c.5092G>A (p.Val1698Met) c.*5608G>A (n.*5608G>A) c.*7844G>A (n.*7844G>A) c.5095G>A (p.Val1699Met) c.5026G>A (p.Val1676Met) c.4894G>A (p.Val1632Met) c.4927G>A (p.Val1643Met) c.1318G>A n.2977G>A c.3749G>A c.4966G>A (p.Val1656Met) n.692G>A c.4897G>A (p.Val1633Met) c.4963G>A (p.Val1655Met) c.4888G>A (p.Val1630Met) n.2743G>A c.5020G>A (p.Val1674Met) c.4891G>A (p.Val1631Met) c.5016G>A n.3179G>A c.5089G>A (p.Val1697Met) n.3910G>A n.2347G>A n.2318G>A n.2208G>A c.4750G>A (p.Val1584Met) c.*4262G>A (n.*4262G>A) c.4786G>A (p.Val1596Met) n.2818G>A c.1277G>A n.2210G>A c.5149G>A (p.Val1717Met) c.5146G>A (p.Val1716Met) c.5038G>A (p.Val1680Met) c.5017G>A (p.Val1673Met) c.4363G>A (p.Val1455Met) c.5311G>A (p.Val1771Met) c.5059G>A (p.Val1687Met) c.3805G>A (p.Val1269Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088074G>C | CA394312146 | TSC2 | c.*3444G>C (n.*3444G>C) c.4942G>C (p.Val1648Leu) c.5092G>C (p.Val1698Leu) c.*5608G>C (n.*5608G>C) c.*7844G>C (n.*7844G>C) c.5095G>C (p.Val1699Leu) c.5026G>C (p.Val1676Leu) c.4894G>C (p.Val1632Leu) c.4927G>C (p.Val1643Leu) c.1318G>C n.2977G>C c.3749G>C c.4966G>C (p.Val1656Leu) n.692G>C c.4897G>C (p.Val1633Leu) c.4963G>C (p.Val1655Leu) c.4888G>C (p.Val1630Leu) n.2743G>C c.5020G>C (p.Val1674Leu) c.4891G>C (p.Val1631Leu) c.5016G>C n.3179G>C c.5089G>C (p.Val1697Leu) n.3910G>C n.2347G>C n.2318G>C n.2208G>C c.4750G>C (p.Val1584Leu) c.*4262G>C (n.*4262G>C) c.4786G>C (p.Val1596Leu) n.2818G>C c.1277G>C n.2210G>C c.5149G>C (p.Val1717Leu) c.5146G>C (p.Val1716Leu) c.5038G>C (p.Val1680Leu) c.5017G>C (p.Val1673Leu) c.4363G>C (p.Val1455Leu) c.5311G>C (p.Val1771Leu) c.5059G>C (p.Val1687Leu) c.3805G>C (p.Val1269Leu) | dbSNP |
16 | g.2088074G= | CA2202030408 | TSC2 | c.*3444G= (n.*3444G=) c.4942G= (p.Val1648=) c.5092G= (p.Val1698=) c.*5608G= (n.*5608G=) c.*7844G= (n.*7844G=) c.5095G= (p.Val1699=) c.5026G= (p.Val1676=) c.4894G= (p.Val1632=) c.4927G= (p.Val1643=) c.1318G= n.2977G= c.3749G= c.4966G= (p.Val1656=) n.692G= c.4897G= (p.Val1633=) c.4963G= (p.Val1655=) c.4888G= (p.Val1630=) n.2743G= c.5020G= (p.Val1674=) c.4891G= (p.Val1631=) c.5016G= n.3179G= c.5089G= (p.Val1697=) n.3910G= n.2347G= n.2318G= n.2208G= c.4750G= (p.Val1584=) c.*4262G= (n.*4262G=) c.4786G= (p.Val1596=) n.2818G= c.1277G= n.2210G= c.5149G= (p.Val1717=) c.5146G= (p.Val1716=) c.5038G= (p.Val1680=) c.5017G= (p.Val1673=) c.4363G= (p.Val1455=) c.5311G= (p.Val1771=) c.5059G= (p.Val1687=) c.3805G= (p.Val1269=) | |
16 | g.2088074G>T | CA394312149 | TSC2 | c.*3444G>T (n.*3444G>T) c.4942G>T (p.Val1648Leu) c.5092G>T (p.Val1698Leu) c.*5608G>T (n.*5608G>T) c.*7844G>T (n.*7844G>T) c.5095G>T (p.Val1699Leu) c.5026G>T (p.Val1676Leu) c.4894G>T (p.Val1632Leu) c.4927G>T (p.Val1643Leu) c.1318G>T n.2977G>T c.3749G>T c.4966G>T (p.Val1656Leu) n.692G>T c.4897G>T (p.Val1633Leu) c.4963G>T (p.Val1655Leu) c.4888G>T (p.Val1630Leu) n.2743G>T c.5020G>T (p.Val1674Leu) c.4891G>T (p.Val1631Leu) c.5016G>T n.3179G>T c.5089G>T (p.Val1697Leu) n.3910G>T n.2347G>T n.2318G>T n.2208G>T c.4750G>T (p.Val1584Leu) c.*4262G>T (n.*4262G>T) c.4786G>T (p.Val1596Leu) n.2818G>T c.1277G>T n.2210G>T c.5149G>T (p.Val1717Leu) c.5146G>T (p.Val1716Leu) c.5038G>T (p.Val1680Leu) c.5017G>T (p.Val1673Leu) c.4363G>T (p.Val1455Leu) c.5311G>T (p.Val1771Leu) c.5059G>T (p.Val1687Leu) c.3805G>T (p.Val1269Leu) | |
16 | g.2088075T>A | CA394312153 | TSC2 | c.*3445T>A (n.*3445T>A) c.4943T>A (p.Val1648Glu) c.5093T>A (p.Val1698Glu) c.*5609T>A (n.*5609T>A) c.*7845T>A (n.*7845T>A) c.5096T>A (p.Val1699Glu) c.5027T>A (p.Val1676Glu) c.4895T>A (p.Val1632Glu) c.4928T>A (p.Val1643Glu) c.1319T>A n.2978T>A c.3750T>A c.4967T>A (p.Val1656Glu) n.693T>A c.4898T>A (p.Val1633Glu) c.4964T>A (p.Val1655Glu) c.4889T>A (p.Val1630Glu) n.2744T>A c.5021T>A (p.Val1674Glu) c.4892T>A (p.Val1631Glu) c.5017T>A n.3180T>A c.5090T>A (p.Val1697Glu) n.3911T>A n.2348T>A n.2319T>A n.2209T>A c.4751T>A (p.Val1584Glu) c.*4263T>A (n.*4263T>A) c.4787T>A (p.Val1596Glu) n.2819T>A c.1278T>A n.2211T>A c.5150T>A (p.Val1717Glu) c.5147T>A (p.Val1716Glu) c.5039T>A (p.Val1680Glu) c.5018T>A (p.Val1673Glu) c.4364T>A (p.Val1455Glu) c.5312T>A (p.Val1771Glu) c.5060T>A (p.Val1687Glu) c.3806T>A (p.Val1269Glu) | |
16 | g.2088075T>C | CA394312151 | TSC2 | c.*3445T>C (n.*3445T>C) c.4943T>C (p.Val1648Ala) c.5093T>C (p.Val1698Ala) c.*5609T>C (n.*5609T>C) c.*7845T>C (n.*7845T>C) c.5096T>C (p.Val1699Ala) c.5027T>C (p.Val1676Ala) c.4895T>C (p.Val1632Ala) c.4928T>C (p.Val1643Ala) c.1319T>C n.2978T>C c.3750T>C c.4967T>C (p.Val1656Ala) n.693T>C c.4898T>C (p.Val1633Ala) c.4964T>C (p.Val1655Ala) c.4889T>C (p.Val1630Ala) n.2744T>C c.5021T>C (p.Val1674Ala) c.4892T>C (p.Val1631Ala) c.5017T>C n.3180T>C c.5090T>C (p.Val1697Ala) n.3911T>C n.2348T>C n.2319T>C n.2209T>C c.4751T>C (p.Val1584Ala) c.*4263T>C (n.*4263T>C) c.4787T>C (p.Val1596Ala) n.2819T>C c.1278T>C n.2211T>C c.5150T>C (p.Val1717Ala) c.5147T>C (p.Val1716Ala) c.5039T>C (p.Val1680Ala) c.5018T>C (p.Val1673Ala) c.4364T>C (p.Val1455Ala) c.5312T>C (p.Val1771Ala) c.5060T>C (p.Val1687Ala) c.3806T>C (p.Val1269Ala) | |
16 | g.2088075T>G | CA394312150 | TSC2 | c.*3445T>G (n.*3445T>G) c.4943T>G (p.Val1648Gly) c.5093T>G (p.Val1698Gly) c.*5609T>G (n.*5609T>G) c.*7845T>G (n.*7845T>G) c.5096T>G (p.Val1699Gly) c.5027T>G (p.Val1676Gly) c.4895T>G (p.Val1632Gly) c.4928T>G (p.Val1643Gly) c.1319T>G n.2978T>G c.3750T>G c.4967T>G (p.Val1656Gly) n.693T>G c.4898T>G (p.Val1633Gly) c.4964T>G (p.Val1655Gly) c.4889T>G (p.Val1630Gly) n.2744T>G c.5021T>G (p.Val1674Gly) c.4892T>G (p.Val1631Gly) c.5017T>G n.3180T>G c.5090T>G (p.Val1697Gly) n.3911T>G n.2348T>G n.2319T>G n.2209T>G c.4751T>G (p.Val1584Gly) c.*4263T>G (n.*4263T>G) c.4787T>G (p.Val1596Gly) n.2819T>G c.1278T>G n.2211T>G c.5150T>G (p.Val1717Gly) c.5147T>G (p.Val1716Gly) c.5039T>G (p.Val1680Gly) c.5018T>G (p.Val1673Gly) c.4364T>G (p.Val1455Gly) c.5312T>G (p.Val1771Gly) c.5060T>G (p.Val1687Gly) c.3806T>G (p.Val1269Gly) | |
16 | g.2088076G>A | CA276758854 | TSC2 | c.*3446G>A (n.*3446G>A) c.4944G>A (p.Val1648=) c.5094G>A (p.Val1698=) c.*5610G>A (n.*5610G>A) c.*7846G>A (n.*7846G>A) c.5097G>A (p.Val1699=) c.5028G>A (p.Val1676=) c.4896G>A (p.Val1632=) c.4929G>A (p.Val1643=) c.1320G>A n.2979G>A c.3751G>A c.4968G>A (p.Val1656=) n.694G>A c.4899G>A (p.Val1633=) c.4965G>A (p.Val1655=) c.4890G>A (p.Val1630=) n.2745G>A c.5022G>A (p.Val1674=) c.4893G>A (p.Val1631=) c.5018G>A n.3181G>A c.5091G>A (p.Val1697=) n.3912G>A n.2349G>A n.2320G>A n.2210G>A c.4752G>A (p.Val1584=) c.*4264G>A (n.*4264G>A) c.4788G>A (p.Val1596=) n.2820G>A c.1279G>A n.2212G>A c.5151G>A (p.Val1717=) c.5148G>A (p.Val1716=) c.5040G>A (p.Val1680=) c.5019G>A (p.Val1673=) c.4365G>A (p.Val1455=) c.5313G>A (p.Val1771=) c.5061G>A (p.Val1687=) c.3807G>A (p.Val1269=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088076G>C | CA021723 | TSC2 | c.*3446G>C (n.*3446G>C) c.4944G>C (p.Val1648=) c.5094G>C (p.Val1698=) c.*5610G>C (n.*5610G>C) c.*7846G>C (n.*7846G>C) c.5097G>C (p.Val1699=) c.5028G>C (p.Val1676=) c.4896G>C (p.Val1632=) c.4929G>C (p.Val1643=) c.1320G>C n.2979G>C c.3751G>C c.4968G>C (p.Val1656=) n.694G>C c.4899G>C (p.Val1633=) c.4965G>C (p.Val1655=) c.4890G>C (p.Val1630=) n.2745G>C c.5022G>C (p.Val1674=) c.4893G>C (p.Val1631=) c.5018G>C n.3181G>C c.5091G>C (p.Val1697=) n.3912G>C n.2349G>C n.2320G>C n.2210G>C c.4752G>C (p.Val1584=) c.*4264G>C (n.*4264G>C) c.4788G>C (p.Val1596=) n.2820G>C c.1279G>C n.2212G>C c.5151G>C (p.Val1717=) c.5148G>C (p.Val1716=) c.5040G>C (p.Val1680=) c.5019G>C (p.Val1673=) c.4365G>C (p.Val1455=) c.5313G>C (p.Val1771=) c.5061G>C (p.Val1687=) c.3807G>C (p.Val1269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088076G= | CA2202030413 | TSC2 | c.*3446G= (n.*3446G=) c.4944G= (p.Val1648=) c.5094G= (p.Val1698=) c.*5610G= (n.*5610G=) c.*7846G= (n.*7846G=) c.5097G= (p.Val1699=) c.5028G= (p.Val1676=) c.4896G= (p.Val1632=) c.4929G= (p.Val1643=) c.1320G= n.2979G= c.3751G= c.4968G= (p.Val1656=) n.694G= c.4899G= (p.Val1633=) c.4965G= (p.Val1655=) c.4890G= (p.Val1630=) n.2745G= c.5022G= (p.Val1674=) c.4893G= (p.Val1631=) c.5018G= n.3181G= c.5091G= (p.Val1697=) n.3912G= n.2349G= n.2320G= n.2210G= c.4752G= (p.Val1584=) c.*4264G= (n.*4264G=) c.4788G= (p.Val1596=) n.2820G= c.1279G= n.2212G= c.5151G= (p.Val1717=) c.5148G= (p.Val1716=) c.5040G= (p.Val1680=) c.5019G= (p.Val1673=) c.4365G= (p.Val1455=) c.5313G= (p.Val1771=) c.5061G= (p.Val1687=) c.3807G= (p.Val1269=) | |
16 | g.2088076G>T | CA493043642 | TSC2 | c.*3446G>T (n.*3446G>T) c.4944G>T (p.Val1648=) c.5094G>T (p.Val1698=) c.*5610G>T (n.*5610G>T) c.*7846G>T (n.*7846G>T) c.5097G>T (p.Val1699=) c.5028G>T (p.Val1676=) c.4896G>T (p.Val1632=) c.4929G>T (p.Val1643=) c.1320G>T n.2979G>T c.3751G>T c.4968G>T (p.Val1656=) n.694G>T c.4899G>T (p.Val1633=) c.4965G>T (p.Val1655=) c.4890G>T (p.Val1630=) n.2745G>T c.5022G>T (p.Val1674=) c.4893G>T (p.Val1631=) c.5018G>T n.3181G>T c.5091G>T (p.Val1697=) n.3912G>T n.2349G>T n.2320G>T n.2210G>T c.4752G>T (p.Val1584=) c.*4264G>T (n.*4264G>T) c.4788G>T (p.Val1596=) n.2820G>T c.1279G>T n.2212G>T c.5151G>T (p.Val1717=) c.5148G>T (p.Val1716=) c.5040G>T (p.Val1680=) c.5019G>T (p.Val1673=) c.4365G>T (p.Val1455=) c.5313G>T (p.Val1771=) c.5061G>T (p.Val1687=) c.3807G>T (p.Val1269=) | ClinVar |
16 | g.2088077G>A | CA394312162 | TSC2 | c.*3447G>A (n.*3447G>A) c.4945G>A (p.Ala1649Thr) c.5095G>A (p.Ala1699Thr) c.*5611G>A (n.*5611G>A) c.*7847G>A (n.*7847G>A) c.5098G>A (p.Ala1700Thr) c.5029G>A (p.Ala1677Thr) c.4897G>A (p.Ala1633Thr) c.4930G>A (p.Ala1644Thr) c.1321G>A n.2980G>A c.3752G>A c.4969G>A (p.Ala1657Thr) n.695G>A c.4900G>A (p.Ala1634Thr) c.4966G>A (p.Ala1656Thr) c.4891G>A (p.Ala1631Thr) n.2746G>A c.5023G>A (p.Ala1675Thr) c.4894G>A (p.Ala1632Thr) c.5019G>A n.3182G>A c.5092G>A (p.Ala1698Thr) n.3913G>A n.2350G>A n.2321G>A n.2211G>A c.4753G>A (p.Ala1585Thr) c.*4265G>A (n.*4265G>A) c.4789G>A (p.Ala1597Thr) n.2821G>A c.1280G>A n.2213G>A c.5152G>A (p.Ala1718Thr) c.5149G>A (p.Ala1717Thr) c.5041G>A (p.Ala1681Thr) c.5020G>A (p.Ala1674Thr) c.4366G>A (p.Ala1456Thr) c.5314G>A (p.Ala1772Thr) c.5062G>A (p.Ala1688Thr) c.3808G>A (p.Ala1270Thr) | |
16 | g.2088077G>C | CA394312165 | TSC2 | c.*3447G>C (n.*3447G>C) c.4945G>C (p.Ala1649Pro) c.5095G>C (p.Ala1699Pro) c.*5611G>C (n.*5611G>C) c.*7847G>C (n.*7847G>C) c.5098G>C (p.Ala1700Pro) c.5029G>C (p.Ala1677Pro) c.4897G>C (p.Ala1633Pro) c.4930G>C (p.Ala1644Pro) c.1321G>C n.2980G>C c.3752G>C c.4969G>C (p.Ala1657Pro) n.695G>C c.4900G>C (p.Ala1634Pro) c.4966G>C (p.Ala1656Pro) c.4891G>C (p.Ala1631Pro) n.2746G>C c.5023G>C (p.Ala1675Pro) c.4894G>C (p.Ala1632Pro) c.5019G>C n.3182G>C c.5092G>C (p.Ala1698Pro) n.3913G>C n.2350G>C n.2321G>C n.2211G>C c.4753G>C (p.Ala1585Pro) c.*4265G>C (n.*4265G>C) c.4789G>C (p.Ala1597Pro) n.2821G>C c.1280G>C n.2213G>C c.5152G>C (p.Ala1718Pro) c.5149G>C (p.Ala1717Pro) c.5041G>C (p.Ala1681Pro) c.5020G>C (p.Ala1674Pro) c.4366G>C (p.Ala1456Pro) c.5314G>C (p.Ala1772Pro) c.5062G>C (p.Ala1688Pro) c.3808G>C (p.Ala1270Pro) | |
16 | g.2088077G>T | CA394312169 | TSC2 | c.*3447G>T (n.*3447G>T) c.4945G>T (p.Ala1649Ser) c.5095G>T (p.Ala1699Ser) c.*5611G>T (n.*5611G>T) c.*7847G>T (n.*7847G>T) c.5098G>T (p.Ala1700Ser) c.5029G>T (p.Ala1677Ser) c.4897G>T (p.Ala1633Ser) c.4930G>T (p.Ala1644Ser) c.1321G>T n.2980G>T c.3752G>T c.4969G>T (p.Ala1657Ser) n.695G>T c.4900G>T (p.Ala1634Ser) c.4966G>T (p.Ala1656Ser) c.4891G>T (p.Ala1631Ser) n.2746G>T c.5023G>T (p.Ala1675Ser) c.4894G>T (p.Ala1632Ser) c.5019G>T n.3182G>T c.5092G>T (p.Ala1698Ser) n.3913G>T n.2350G>T n.2321G>T n.2211G>T c.4753G>T (p.Ala1585Ser) c.*4265G>T (n.*4265G>T) c.4789G>T (p.Ala1597Ser) n.2821G>T c.1280G>T n.2213G>T c.5152G>T (p.Ala1718Ser) c.5149G>T (p.Ala1717Ser) c.5041G>T (p.Ala1681Ser) c.5020G>T (p.Ala1674Ser) c.4366G>T (p.Ala1456Ser) c.5314G>T (p.Ala1772Ser) c.5062G>T (p.Ala1688Ser) c.3808G>T (p.Ala1270Ser) | |
16 | g.2088078C>A | CA394312175 | TSC2 | c.*3448C>A (n.*3448C>A) c.4946C>A (p.Ala1649Asp) c.5096C>A (p.Ala1699Asp) c.*5612C>A (n.*5612C>A) c.*7848C>A (n.*7848C>A) c.5099C>A (p.Ala1700Asp) c.5030C>A (p.Ala1677Asp) c.4898C>A (p.Ala1633Asp) c.4931C>A (p.Ala1644Asp) c.1322C>A n.2981C>A c.3753C>A c.4970C>A (p.Ala1657Asp) n.696C>A c.4901C>A (p.Ala1634Asp) c.4967C>A (p.Ala1656Asp) c.4892C>A (p.Ala1631Asp) n.2747C>A c.5024C>A (p.Ala1675Asp) c.4895C>A (p.Ala1632Asp) c.5020C>A n.3183C>A c.5093C>A (p.Ala1698Asp) n.3914C>A n.2351C>A n.2322C>A n.2212C>A c.4754C>A (p.Ala1585Asp) c.*4266C>A (n.*4266C>A) c.4790C>A (p.Ala1597Asp) n.2822C>A c.1281C>A n.2214C>A c.5153C>A (p.Ala1718Asp) c.5150C>A (p.Ala1717Asp) c.5042C>A (p.Ala1681Asp) c.5021C>A (p.Ala1674Asp) c.4367C>A (p.Ala1456Asp) c.5315C>A (p.Ala1772Asp) c.5063C>A (p.Ala1688Asp) c.3809C>A (p.Ala1270Asp) | dbSNP |
16 | g.2088078C>G | CA394312178 | TSC2 | c.*3448C>G (n.*3448C>G) c.4946C>G (p.Ala1649Gly) c.5096C>G (p.Ala1699Gly) c.*5612C>G (n.*5612C>G) c.*7848C>G (n.*7848C>G) c.5099C>G (p.Ala1700Gly) c.5030C>G (p.Ala1677Gly) c.4898C>G (p.Ala1633Gly) c.4931C>G (p.Ala1644Gly) c.1322C>G n.2981C>G c.3753C>G c.4970C>G (p.Ala1657Gly) n.696C>G c.4901C>G (p.Ala1634Gly) c.4967C>G (p.Ala1656Gly) c.4892C>G (p.Ala1631Gly) n.2747C>G c.5024C>G (p.Ala1675Gly) c.4895C>G (p.Ala1632Gly) c.5020C>G n.3183C>G c.5093C>G (p.Ala1698Gly) n.3914C>G n.2351C>G n.2322C>G n.2212C>G c.4754C>G (p.Ala1585Gly) c.*4266C>G (n.*4266C>G) c.4790C>G (p.Ala1597Gly) n.2822C>G c.1281C>G n.2214C>G c.5153C>G (p.Ala1718Gly) c.5150C>G (p.Ala1717Gly) c.5042C>G (p.Ala1681Gly) c.5021C>G (p.Ala1674Gly) c.4367C>G (p.Ala1456Gly) c.5315C>G (p.Ala1772Gly) c.5063C>G (p.Ala1688Gly) c.3809C>G (p.Ala1270Gly) | dbSNP |
16 | g.2088078C>T | CA394312182 | TSC2 | c.*3448C>T (n.*3448C>T) c.4946C>T (p.Ala1649Val) c.5096C>T (p.Ala1699Val) c.*5612C>T (n.*5612C>T) c.*7848C>T (n.*7848C>T) c.5099C>T (p.Ala1700Val) c.5030C>T (p.Ala1677Val) c.4898C>T (p.Ala1633Val) c.4931C>T (p.Ala1644Val) c.1322C>T n.2981C>T c.3753C>T c.4970C>T (p.Ala1657Val) n.696C>T c.4901C>T (p.Ala1634Val) c.4967C>T (p.Ala1656Val) c.4892C>T (p.Ala1631Val) n.2747C>T c.5024C>T (p.Ala1675Val) c.4895C>T (p.Ala1632Val) c.5020C>T n.3183C>T c.5093C>T (p.Ala1698Val) n.3914C>T n.2351C>T n.2322C>T n.2212C>T c.4754C>T (p.Ala1585Val) c.*4266C>T (n.*4266C>T) c.4790C>T (p.Ala1597Val) n.2822C>T c.1281C>T n.2214C>T c.5153C>T (p.Ala1718Val) c.5150C>T (p.Ala1717Val) c.5042C>T (p.Ala1681Val) c.5021C>T (p.Ala1674Val) c.4367C>T (p.Ala1456Val) c.5315C>T (p.Ala1772Val) c.5063C>T (p.Ala1688Val) c.3809C>T (p.Ala1270Val) | ClinVar dbSNP gnomAD v4 |
16 | g.2088078_2088080del | CA2805573811 | TSC2 | c.*3448_*3450del (n.*3448_*3450del) c.4946_4948del (p.Ala1649_Lys1650delinsGlu) c.5096_5098del (p.Ala1699_Lys1700delinsGlu) c.*5612_*5614del (n.*5612_*5614del) c.*7848_*7850del (n.*7848_*7850del) c.5099_5101del (p.Ala1700_Lys1701delinsGlu) c.5030_5032del (p.Ala1677_Lys1678delinsGlu) c.4898_4900del (p.Ala1633_Lys1634delinsGlu) c.4931_4933del (p.Ala1644_Lys1645delinsGlu) c.1322_1324del n.2981_2983del c.3753_3755del c.4970_4972del (p.Ala1657_Lys1658delinsGlu) n.696_698del c.4901_4903del (p.Ala1634_Lys1635delinsGlu) c.4967_4969del (p.Ala1656_Lys1657delinsGlu) c.4892_4894del (p.Ala1631_Lys1632delinsGlu) n.2747_2749del c.5024_5026del (p.Ala1675_Lys1676delinsGlu) c.4895_4897del (p.Ala1632_Lys1633delinsGlu) c.5020_5022del n.3183_3185del c.5093_5095del (p.Ala1698_Lys1699delinsGlu) n.3914_3916del n.2351_2353del n.2322_2324del n.2212_2214del c.4754_4756del (p.Ala1585_Lys1586delinsGlu) c.*4266_*4268del (n.*4266_*4268del) c.4790_4792del (p.Ala1597_Lys1598delinsGlu) n.2822_2824del c.1281_1283del n.2214_2216del c.5153_5155del (p.Ala1718_Lys1719delinsGlu) c.5150_5152del (p.Ala1717_Lys1718delinsGlu) c.5042_5044del (p.Ala1681_Lys1682delinsGlu) c.5021_5023del (p.Ala1674_Lys1675delinsGlu) c.4367_4369del (p.Ala1456_Lys1457delinsGlu) c.5315_5317del (p.Ala1772_Lys1773delinsGlu) c.5063_5065del (p.Ala1688_Lys1689delinsGlu) c.3809_3811del (p.Ala1270_Lys1271delinsGlu) | |
16 | g.2088079C>A | CA493043643 | TSC2 | c.*3449C>A (n.*3449C>A) c.4947C>A (p.Ala1649=) c.5097C>A (p.Ala1699=) c.*5613C>A (n.*5613C>A) c.*7849C>A (n.*7849C>A) c.5100C>A (p.Ala1700=) c.5031C>A (p.Ala1677=) c.4899C>A (p.Ala1633=) c.4932C>A (p.Ala1644=) c.1323C>A n.2982C>A c.3754C>A c.4971C>A (p.Ala1657=) n.697C>A c.4902C>A (p.Ala1634=) c.4968C>A (p.Ala1656=) c.4893C>A (p.Ala1631=) n.2748C>A c.5025C>A (p.Ala1675=) c.4896C>A (p.Ala1632=) c.5021C>A n.3184C>A c.5094C>A (p.Ala1698=) n.3915C>A n.2352C>A n.2323C>A n.2213C>A c.4755C>A (p.Ala1585=) c.*4267C>A (n.*4267C>A) c.4791C>A (p.Ala1597=) n.2823C>A c.1282C>A n.2215C>A c.5154C>A (p.Ala1718=) c.5151C>A (p.Ala1717=) c.5043C>A (p.Ala1681=) c.5022C>A (p.Ala1674=) c.4368C>A (p.Ala1456=) c.5316C>A (p.Ala1772=) c.5064C>A (p.Ala1688=) c.3810C>A (p.Ala1270=) | |
16 | g.2088079C= | CA2202030422 | TSC2 | c.*3449C= (n.*3449C=) c.4947C= (p.Ala1649=) c.5097C= (p.Ala1699=) c.*5613C= (n.*5613C=) c.*7849C= (n.*7849C=) c.5100C= (p.Ala1700=) c.5031C= (p.Ala1677=) c.4899C= (p.Ala1633=) c.4932C= (p.Ala1644=) c.1323C= n.2982C= c.3754C= c.4971C= (p.Ala1657=) n.697C= c.4902C= (p.Ala1634=) c.4968C= (p.Ala1656=) c.4893C= (p.Ala1631=) n.2748C= c.5025C= (p.Ala1675=) c.4896C= (p.Ala1632=) c.5021C= n.3184C= c.5094C= (p.Ala1698=) n.3915C= n.2352C= n.2323C= n.2213C= c.4755C= (p.Ala1585=) c.*4267C= (n.*4267C=) c.4791C= (p.Ala1597=) n.2823C= c.1282C= n.2215C= c.5154C= (p.Ala1718=) c.5151C= (p.Ala1717=) c.5043C= (p.Ala1681=) c.5022C= (p.Ala1674=) c.4368C= (p.Ala1456=) c.5316C= (p.Ala1772=) c.5064C= (p.Ala1688=) c.3810C= (p.Ala1270=) | |
16 | g.2088079C>G | CA493043644 | TSC2 | c.*3449C>G (n.*3449C>G) c.4947C>G (p.Ala1649=) c.5097C>G (p.Ala1699=) c.*5613C>G (n.*5613C>G) c.*7849C>G (n.*7849C>G) c.5100C>G (p.Ala1700=) c.5031C>G (p.Ala1677=) c.4899C>G (p.Ala1633=) c.4932C>G (p.Ala1644=) c.1323C>G n.2982C>G c.3754C>G c.4971C>G (p.Ala1657=) n.697C>G c.4902C>G (p.Ala1634=) c.4968C>G (p.Ala1656=) c.4893C>G (p.Ala1631=) n.2748C>G c.5025C>G (p.Ala1675=) c.4896C>G (p.Ala1632=) c.5021C>G n.3184C>G c.5094C>G (p.Ala1698=) n.3915C>G n.2352C>G n.2323C>G n.2213C>G c.4755C>G (p.Ala1585=) c.*4267C>G (n.*4267C>G) c.4791C>G (p.Ala1597=) n.2823C>G c.1282C>G n.2215C>G c.5154C>G (p.Ala1718=) c.5151C>G (p.Ala1717=) c.5043C>G (p.Ala1681=) c.5022C>G (p.Ala1674=) c.4368C>G (p.Ala1456=) c.5316C>G (p.Ala1772=) c.5064C>G (p.Ala1688=) c.3810C>G (p.Ala1270=) | ClinVar dbSNP |
16 | g.2088079C>T | CA493043645 | TSC2 | c.*3449C>T (n.*3449C>T) c.4947C>T (p.Ala1649=) c.5097C>T (p.Ala1699=) c.*5613C>T (n.*5613C>T) c.*7849C>T (n.*7849C>T) c.5100C>T (p.Ala1700=) c.5031C>T (p.Ala1677=) c.4899C>T (p.Ala1633=) c.4932C>T (p.Ala1644=) c.1323C>T n.2982C>T c.3754C>T c.4971C>T (p.Ala1657=) n.697C>T c.4902C>T (p.Ala1634=) c.4968C>T (p.Ala1656=) c.4893C>T (p.Ala1631=) n.2748C>T c.5025C>T (p.Ala1675=) c.4896C>T (p.Ala1632=) c.5021C>T n.3184C>T c.5094C>T (p.Ala1698=) n.3915C>T n.2352C>T n.2323C>T n.2213C>T c.4755C>T (p.Ala1585=) c.*4267C>T (n.*4267C>T) c.4791C>T (p.Ala1597=) n.2823C>T c.1282C>T n.2215C>T c.5154C>T (p.Ala1718=) c.5151C>T (p.Ala1717=) c.5043C>T (p.Ala1681=) c.5022C>T (p.Ala1674=) c.4368C>T (p.Ala1456=) c.5316C>T (p.Ala1772=) c.5064C>T (p.Ala1688=) c.3810C>T (p.Ala1270=) | ClinVar dbSNP |
16 | g.2088080_2088104del | CA2695221740 | TSC2 | c.*3450_*3474del (n.*3450_*3474del) c.4948_4972del (p.Lys1650ProfsTer?) c.5098_5122del (p.Lys1700ProfsTer?) c.*5614_*5638del (n.*5614_*5638del) c.*7850_*7874del (n.*7850_*7874del) c.5101_5125del (p.Lys1701ProfsTer?) c.5032_5056del (p.Lys1678ProfsTer?) c.4900_4924del (p.Lys1634ProfsTer?) c.4933_4957del (p.Lys1645ProfsTer?) c.1324_1348del n.2983_3007del c.3755_3779del c.4972_4996del (p.Lys1658ProfsTer?) n.698_722del c.4903_4927del (p.Lys1635ProfsTer?) c.4969_4993del (p.Lys1657ProfsTer?) c.4894_4918del (p.Lys1632ProfsTer?) n.2749_2773del c.5026_5050del (p.Lys1676ProfsTer?) c.4900_4924del (p.Lys1634ProfsTer13) c.4897_4921del (p.Lys1633ProfsTer?) c.5022_5046del n.3185_3209del c.5095_5119del (p.Lys1699ProfsTer?) n.3916_3940del n.2353_2377del n.2324_2348del n.2214_2238del c.4756_4780del (p.Lys1586ProfsTer?) c.*4268_*4292del (n.*4268_*4292del) c.4792_4816del (p.Lys1598ProfsTer?) n.2824_2848del c.1283_1307del n.2216_2240del c.5155_5179del (p.Lys1719ProfsTer?) c.5152_5176del (p.Lys1718ProfsTer?) c.5044_5068del (p.Lys1682ProfsTer?) c.5023_5047del (p.Lys1675ProfsTer?) c.4369_4393del (p.Lys1457ProfsTer?) c.5317_5341del (p.Lys1773ProfsTer?) c.5065_5089del (p.Lys1689ProfsTer?) c.3811_3835del (p.Lys1271ProfsTer?) | |
16 | g.2088080A>C | CA394312186 | TSC2 | c.*3450A>C (n.*3450A>C) c.4948A>C (p.Lys1650Gln) c.5098A>C (p.Lys1700Gln) c.*5614A>C (n.*5614A>C) c.*7850A>C (n.*7850A>C) c.5101A>C (p.Lys1701Gln) c.5032A>C (p.Lys1678Gln) c.4900A>C (p.Lys1634Gln) c.4933A>C (p.Lys1645Gln) c.1324A>C n.2983A>C c.3755A>C c.4972A>C (p.Lys1658Gln) n.698A>C c.4903A>C (p.Lys1635Gln) c.4969A>C (p.Lys1657Gln) c.4894A>C (p.Lys1632Gln) n.2749A>C c.5026A>C (p.Lys1676Gln) c.4897A>C (p.Lys1633Gln) c.5022A>C n.3185A>C c.5095A>C (p.Lys1699Gln) n.3916A>C n.2353A>C n.2324A>C n.2214A>C c.4756A>C (p.Lys1586Gln) c.*4268A>C (n.*4268A>C) c.4792A>C (p.Lys1598Gln) n.2824A>C c.1283A>C n.2216A>C c.5155A>C (p.Lys1719Gln) c.5152A>C (p.Lys1718Gln) c.5044A>C (p.Lys1682Gln) c.5023A>C (p.Lys1675Gln) c.4369A>C (p.Lys1457Gln) c.5317A>C (p.Lys1773Gln) c.5065A>C (p.Lys1689Gln) c.3811A>C (p.Lys1271Gln) | ClinVar |
16 | g.2088080A>G | CA394312189 | TSC2 | c.*3450A>G (n.*3450A>G) c.4948A>G (p.Lys1650Glu) c.5098A>G (p.Lys1700Glu) c.*5614A>G (n.*5614A>G) c.*7850A>G (n.*7850A>G) c.5101A>G (p.Lys1701Glu) c.5032A>G (p.Lys1678Glu) c.4900A>G (p.Lys1634Glu) c.4933A>G (p.Lys1645Glu) c.1324A>G n.2983A>G c.3755A>G c.4972A>G (p.Lys1658Glu) n.698A>G c.4903A>G (p.Lys1635Glu) c.4969A>G (p.Lys1657Glu) c.4894A>G (p.Lys1632Glu) n.2749A>G c.5026A>G (p.Lys1676Glu) c.4897A>G (p.Lys1633Glu) c.5022A>G n.3185A>G c.5095A>G (p.Lys1699Glu) n.3916A>G n.2353A>G n.2324A>G n.2214A>G c.4756A>G (p.Lys1586Glu) c.*4268A>G (n.*4268A>G) c.4792A>G (p.Lys1598Glu) n.2824A>G c.1283A>G n.2216A>G c.5155A>G (p.Lys1719Glu) c.5152A>G (p.Lys1718Glu) c.5044A>G (p.Lys1682Glu) c.5023A>G (p.Lys1675Glu) c.4369A>G (p.Lys1457Glu) c.5317A>G (p.Lys1773Glu) c.5065A>G (p.Lys1689Glu) c.3811A>G (p.Lys1271Glu) | ClinVar dbSNP |
16 | g.2088080A>T | CA394312192 | TSC2 | c.*3450A>T (n.*3450A>T) c.4948A>T (p.Lys1650Ter) c.5098A>T (p.Lys1700Ter) c.*5614A>T (n.*5614A>T) c.*7850A>T (n.*7850A>T) c.5101A>T (p.Lys1701Ter) c.5032A>T (p.Lys1678Ter) c.4900A>T (p.Lys1634Ter) c.4933A>T (p.Lys1645Ter) c.1324A>T n.2983A>T c.3755A>T c.4972A>T (p.Lys1658Ter) n.698A>T c.4903A>T (p.Lys1635Ter) c.4969A>T (p.Lys1657Ter) c.4894A>T (p.Lys1632Ter) n.2749A>T c.5026A>T (p.Lys1676Ter) c.4897A>T (p.Lys1633Ter) c.5022A>T n.3185A>T c.5095A>T (p.Lys1699Ter) n.3916A>T n.2353A>T n.2324A>T n.2214A>T c.4756A>T (p.Lys1586Ter) c.*4268A>T (n.*4268A>T) c.4792A>T (p.Lys1598Ter) n.2824A>T c.1283A>T n.2216A>T c.5155A>T (p.Lys1719Ter) c.5152A>T (p.Lys1718Ter) c.5044A>T (p.Lys1682Ter) c.5023A>T (p.Lys1675Ter) c.4369A>T (p.Lys1457Ter) c.5317A>T (p.Lys1773Ter) c.5065A>T (p.Lys1689Ter) c.3811A>T (p.Lys1271Ter) | dbSNP |
16 | g.2088081_2088083del | CA2695197401 | TSC2 | c.*3451_*3453del (n.*3451_*3453del) c.4949_4951del (p.Lys1650del) c.5099_5101del (p.Lys1700del) c.*5615_*5617del (n.*5615_*5617del) c.*7851_*7853del (n.*7851_*7853del) c.5102_5104del (p.Lys1701del) c.5033_5035del (p.Lys1678del) c.4901_4903del (p.Lys1634del) c.4934_4936del (p.Lys1645del) c.1325_1327del n.2984_2986del c.3756_3758del c.4973_4975del (p.Lys1658del) n.699_701del c.4904_4906del (p.Lys1635del) c.4970_4972del (p.Lys1657del) c.4895_4897del (p.Lys1632del) n.2750_2752del c.5027_5029del (p.Lys1676del) c.4898_4900del (p.Lys1633del) c.5023_5025del n.3186_3188del c.5096_5098del (p.Lys1699del) n.3917_3919del n.2354_2356del n.2325_2327del n.2215_2217del c.4757_4759del (p.Lys1586del) c.*4269_*4271del (n.*4269_*4271del) c.4793_4795del (p.Lys1598del) n.2825_2827del c.1284_1286del n.2217_2219del c.5156_5158del (p.Lys1719del) c.5153_5155del (p.Lys1718del) c.5045_5047del (p.Lys1682del) c.5024_5026del (p.Lys1675del) c.4370_4372del (p.Lys1457del) c.5318_5320del (p.Lys1773del) c.5066_5068del (p.Lys1689del) c.3812_3814del (p.Lys1271del) | ClinVar |
16 | g.2088081A>C | CA394312194 | TSC2 | c.*3451A>C (n.*3451A>C) c.4949A>C (p.Lys1650Thr) c.5099A>C (p.Lys1700Thr) c.*5615A>C (n.*5615A>C) c.*7851A>C (n.*7851A>C) c.5102A>C (p.Lys1701Thr) c.5033A>C (p.Lys1678Thr) c.4901A>C (p.Lys1634Thr) c.4934A>C (p.Lys1645Thr) c.1325A>C n.2984A>C c.3756A>C c.4973A>C (p.Lys1658Thr) n.699A>C c.4904A>C (p.Lys1635Thr) c.4970A>C (p.Lys1657Thr) c.4895A>C (p.Lys1632Thr) n.2750A>C c.5027A>C (p.Lys1676Thr) c.4898A>C (p.Lys1633Thr) c.5023A>C n.3186A>C c.5096A>C (p.Lys1699Thr) n.3917A>C n.2354A>C n.2325A>C n.2215A>C c.4757A>C (p.Lys1586Thr) c.*4269A>C (n.*4269A>C) c.4793A>C (p.Lys1598Thr) n.2825A>C c.1284A>C n.2217A>C c.5156A>C (p.Lys1719Thr) c.5153A>C (p.Lys1718Thr) c.5045A>C (p.Lys1682Thr) c.5024A>C (p.Lys1675Thr) c.4370A>C (p.Lys1457Thr) c.5318A>C (p.Lys1773Thr) c.5066A>C (p.Lys1689Thr) c.3812A>C (p.Lys1271Thr) | dbSNP |
16 | g.2088081A>G | CA394312196 | TSC2 | c.*3451A>G (n.*3451A>G) c.4949A>G (p.Lys1650Arg) c.5099A>G (p.Lys1700Arg) c.*5615A>G (n.*5615A>G) c.*7851A>G (n.*7851A>G) c.5102A>G (p.Lys1701Arg) c.5033A>G (p.Lys1678Arg) c.4901A>G (p.Lys1634Arg) c.4934A>G (p.Lys1645Arg) c.1325A>G n.2984A>G c.3756A>G c.4973A>G (p.Lys1658Arg) n.699A>G c.4904A>G (p.Lys1635Arg) c.4970A>G (p.Lys1657Arg) c.4895A>G (p.Lys1632Arg) n.2750A>G c.5027A>G (p.Lys1676Arg) c.4898A>G (p.Lys1633Arg) c.5023A>G n.3186A>G c.5096A>G (p.Lys1699Arg) n.3917A>G n.2354A>G n.2325A>G n.2215A>G c.4757A>G (p.Lys1586Arg) c.*4269A>G (n.*4269A>G) c.4793A>G (p.Lys1598Arg) n.2825A>G c.1284A>G n.2217A>G c.5156A>G (p.Lys1719Arg) c.5153A>G (p.Lys1718Arg) c.5045A>G (p.Lys1682Arg) c.5024A>G (p.Lys1675Arg) c.4370A>G (p.Lys1457Arg) c.5318A>G (p.Lys1773Arg) c.5066A>G (p.Lys1689Arg) c.3812A>G (p.Lys1271Arg) | ClinVar |
16 | g.2088081A>T | CA394312199 | TSC2 | c.*3451A>T (n.*3451A>T) c.4949A>T (p.Lys1650Met) c.5099A>T (p.Lys1700Met) c.*5615A>T (n.*5615A>T) c.*7851A>T (n.*7851A>T) c.5102A>T (p.Lys1701Met) c.5033A>T (p.Lys1678Met) c.4901A>T (p.Lys1634Met) c.4934A>T (p.Lys1645Met) c.1325A>T n.2984A>T c.3756A>T c.4973A>T (p.Lys1658Met) n.699A>T c.4904A>T (p.Lys1635Met) c.4970A>T (p.Lys1657Met) c.4895A>T (p.Lys1632Met) n.2750A>T c.5027A>T (p.Lys1676Met) c.4898A>T (p.Lys1633Met) c.5023A>T n.3186A>T c.5096A>T (p.Lys1699Met) n.3917A>T n.2354A>T n.2325A>T n.2215A>T c.4757A>T (p.Lys1586Met) c.*4269A>T (n.*4269A>T) c.4793A>T (p.Lys1598Met) n.2825A>T c.1284A>T n.2217A>T c.5156A>T (p.Lys1719Met) c.5153A>T (p.Lys1718Met) c.5045A>T (p.Lys1682Met) c.5024A>T (p.Lys1675Met) c.4370A>T (p.Lys1457Met) c.5318A>T (p.Lys1773Met) c.5066A>T (p.Lys1689Met) c.3812A>T (p.Lys1271Met) | dbSNP |
16 | g.2088082_2088083del | CA2499223353 | TSC2 | c.*3452_*3453del (n.*3452_*3453del) c.4950_4951del (p.Lys1650AsnfsTer4) c.5100_5101del (p.Lys1700AsnfsTer4) c.*5616_*5617del (n.*5616_*5617del) c.*7852_*7853del (n.*7852_*7853del) c.5103_5104del (p.Lys1701AsnfsTer4) c.5034_5035del (p.Lys1678AsnfsTer4) c.4902_4903del (p.Lys1634AsnfsTer4) c.4935_4936del (p.Lys1645AsnfsTer4) c.1326_1327del n.2985_2986del c.3757_3758del c.4974_4975del (p.Lys1658AsnfsTer4) n.700_701del c.4905_4906del (p.Lys1635AsnfsTer4) c.4971_4972del (p.Lys1657AsnfsTer4) c.4896_4897del (p.Lys1632AsnfsTer4) n.2751_2752del c.5028_5029del (p.Lys1676AsnfsTer4) c.4899_4900del (p.Lys1633AsnfsTer4) c.5024_5025del n.3187_3188del c.5097_5098del (p.Lys1699AsnfsTer4) n.3918_3919del n.2355_2356del n.2326_2327del n.2216_2217del c.4758_4759del (p.Lys1586AsnfsTer4) c.*4270_*4271del (n.*4270_*4271del) c.4794_4795del (p.Lys1598AsnfsTer4) n.2826_2827del c.1285_1286del n.2218_2219del c.5157_5158del (p.Lys1719AsnfsTer4) c.5154_5155del (p.Lys1718AsnfsTer4) c.5046_5047del (p.Lys1682AsnfsTer4) c.5025_5026del (p.Lys1675AsnfsTer4) c.4371_4372del (p.Lys1457AsnfsTer4) c.5319_5320del (p.Lys1773AsnfsTer4) c.5067_5068del (p.Lys1689AsnfsTer4) c.3813_3814del (p.Lys1271AsnfsTer4) | ClinVar dbSNP |
16 | g.2088082G>A | CA493043646 | TSC2 | c.*3452G>A (n.*3452G>A) c.4950G>A (p.Lys1650=) c.5100G>A (p.Lys1700=) c.*5616G>A (n.*5616G>A) c.*7852G>A (n.*7852G>A) c.5103G>A (p.Lys1701=) c.5034G>A (p.Lys1678=) c.4902G>A (p.Lys1634=) c.4935G>A (p.Lys1645=) c.1326G>A n.2985G>A c.3757G>A c.4974G>A (p.Lys1658=) n.700G>A c.4905G>A (p.Lys1635=) c.4971G>A (p.Lys1657=) c.4896G>A (p.Lys1632=) n.2751G>A c.5028G>A (p.Lys1676=) c.4899G>A (p.Lys1633=) c.5024G>A n.3187G>A c.5097G>A (p.Lys1699=) n.3918G>A n.2355G>A n.2326G>A n.2216G>A c.4758G>A (p.Lys1586=) c.*4270G>A (n.*4270G>A) c.4794G>A (p.Lys1598=) n.2826G>A c.1285G>A n.2218G>A c.5157G>A (p.Lys1719=) c.5154G>A (p.Lys1718=) c.5046G>A (p.Lys1682=) c.5025G>A (p.Lys1675=) c.4371G>A (p.Lys1457=) c.5319G>A (p.Lys1773=) c.5067G>A (p.Lys1689=) c.3813G>A (p.Lys1271=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088082G>C | CA276758891 | TSC2 | c.*3452G>C (n.*3452G>C) c.4950G>C (p.Lys1650Asn) c.5100G>C (p.Lys1700Asn) c.*5616G>C (n.*5616G>C) c.*7852G>C (n.*7852G>C) c.5103G>C (p.Lys1701Asn) c.5034G>C (p.Lys1678Asn) c.4902G>C (p.Lys1634Asn) c.4935G>C (p.Lys1645Asn) c.1326G>C n.2985G>C c.3757G>C c.4974G>C (p.Lys1658Asn) n.700G>C c.4905G>C (p.Lys1635Asn) c.4971G>C (p.Lys1657Asn) c.4896G>C (p.Lys1632Asn) n.2751G>C c.5028G>C (p.Lys1676Asn) c.4899G>C (p.Lys1633Asn) c.5024G>C n.3187G>C c.5097G>C (p.Lys1699Asn) n.3918G>C n.2355G>C n.2326G>C n.2216G>C c.4758G>C (p.Lys1586Asn) c.*4270G>C (n.*4270G>C) c.4794G>C (p.Lys1598Asn) n.2826G>C c.1285G>C n.2218G>C c.5157G>C (p.Lys1719Asn) c.5154G>C (p.Lys1718Asn) c.5046G>C (p.Lys1682Asn) c.5025G>C (p.Lys1675Asn) c.4371G>C (p.Lys1457Asn) c.5319G>C (p.Lys1773Asn) c.5067G>C (p.Lys1689Asn) c.3813G>C (p.Lys1271Asn) | ClinVar dbSNP gnomAD v4 |
16 | g.2088082G= | CA2202030431 | TSC2 | c.*3452G= (n.*3452G=) c.4950G= (p.Lys1650=) c.5100G= (p.Lys1700=) c.*5616G= (n.*5616G=) c.*7852G= (n.*7852G=) c.5103G= (p.Lys1701=) c.5034G= (p.Lys1678=) c.4902G= (p.Lys1634=) c.4935G= (p.Lys1645=) c.1326G= n.2985G= c.3757G= c.4974G= (p.Lys1658=) n.700G= c.4905G= (p.Lys1635=) c.4971G= (p.Lys1657=) c.4896G= (p.Lys1632=) n.2751G= c.5028G= (p.Lys1676=) c.4899G= (p.Lys1633=) c.5024G= n.3187G= c.5097G= (p.Lys1699=) n.3918G= n.2355G= n.2326G= n.2216G= c.4758G= (p.Lys1586=) c.*4270G= (n.*4270G=) c.4794G= (p.Lys1598=) n.2826G= c.1285G= n.2218G= c.5157G= (p.Lys1719=) c.5154G= (p.Lys1718=) c.5046G= (p.Lys1682=) c.5025G= (p.Lys1675=) c.4371G= (p.Lys1457=) c.5319G= (p.Lys1773=) c.5067G= (p.Lys1689=) c.3813G= (p.Lys1271=) | |
16 | g.2088082G>T | CA394312201 | TSC2 | c.*3452G>T (n.*3452G>T) c.4950G>T (p.Lys1650Asn) c.5100G>T (p.Lys1700Asn) c.*5616G>T (n.*5616G>T) c.*7852G>T (n.*7852G>T) c.5103G>T (p.Lys1701Asn) c.5034G>T (p.Lys1678Asn) c.4902G>T (p.Lys1634Asn) c.4935G>T (p.Lys1645Asn) c.1326G>T n.2985G>T c.3757G>T c.4974G>T (p.Lys1658Asn) n.700G>T c.4905G>T (p.Lys1635Asn) c.4971G>T (p.Lys1657Asn) c.4896G>T (p.Lys1632Asn) n.2751G>T c.5028G>T (p.Lys1676Asn) c.4899G>T (p.Lys1633Asn) c.5024G>T n.3187G>T c.5097G>T (p.Lys1699Asn) n.3918G>T n.2355G>T n.2326G>T n.2216G>T c.4758G>T (p.Lys1586Asn) c.*4270G>T (n.*4270G>T) c.4794G>T (p.Lys1598Asn) n.2826G>T c.1285G>T n.2218G>T c.5157G>T (p.Lys1719Asn) c.5154G>T (p.Lys1718Asn) c.5046G>T (p.Lys1682Asn) c.5025G>T (p.Lys1675Asn) c.4371G>T (p.Lys1457Asn) c.5319G>T (p.Lys1773Asn) c.5067G>T (p.Lys1689Asn) c.3813G>T (p.Lys1271Asn) | |
16 | g.2088083A>C | CA394312215 | TSC2 | c.*3453A>C (n.*3453A>C) c.4951A>C (p.Ile1651Leu) c.5101A>C (p.Ile1701Leu) c.*5617A>C (n.*5617A>C) c.*7853A>C (n.*7853A>C) c.5104A>C (p.Ile1702Leu) c.5035A>C (p.Ile1679Leu) c.4903A>C (p.Ile1635Leu) c.4936A>C (p.Ile1646Leu) c.1327A>C n.2986A>C c.3758A>C c.4975A>C (p.Ile1659Leu) n.701A>C c.4906A>C (p.Ile1636Leu) c.4972A>C (p.Ile1658Leu) c.4897A>C (p.Ile1633Leu) n.2752A>C c.5029A>C (p.Ile1677Leu) c.4900A>C (p.Ile1634Leu) c.5025A>C n.3188A>C c.5098A>C (p.Ile1700Leu) n.3919A>C n.2356A>C n.2327A>C n.2217A>C c.4759A>C (p.Ile1587Leu) c.*4271A>C (n.*4271A>C) c.4795A>C (p.Ile1599Leu) n.2827A>C c.1286A>C n.2219A>C c.5158A>C (p.Ile1720Leu) c.5155A>C (p.Ile1719Leu) c.5047A>C (p.Ile1683Leu) c.5026A>C (p.Ile1676Leu) c.4372A>C (p.Ile1458Leu) c.5320A>C (p.Ile1774Leu) c.5068A>C (p.Ile1690Leu) c.3814A>C (p.Ile1272Leu) | dbSNP |
16 | g.2088083A>G | CA394312224 | TSC2 | c.*3453A>G (n.*3453A>G) c.4951A>G (p.Ile1651Val) c.5101A>G (p.Ile1701Val) c.*5617A>G (n.*5617A>G) c.*7853A>G (n.*7853A>G) c.5104A>G (p.Ile1702Val) c.5035A>G (p.Ile1679Val) c.4903A>G (p.Ile1635Val) c.4936A>G (p.Ile1646Val) c.1327A>G n.2986A>G c.3758A>G c.4975A>G (p.Ile1659Val) n.701A>G c.4906A>G (p.Ile1636Val) c.4972A>G (p.Ile1658Val) c.4897A>G (p.Ile1633Val) n.2752A>G c.5029A>G (p.Ile1677Val) c.4900A>G (p.Ile1634Val) c.5025A>G n.3188A>G c.5098A>G (p.Ile1700Val) n.3919A>G n.2356A>G n.2327A>G n.2217A>G c.4759A>G (p.Ile1587Val) c.*4271A>G (n.*4271A>G) c.4795A>G (p.Ile1599Val) n.2827A>G c.1286A>G n.2219A>G c.5158A>G (p.Ile1720Val) c.5155A>G (p.Ile1719Val) c.5047A>G (p.Ile1683Val) c.5026A>G (p.Ile1676Val) c.4372A>G (p.Ile1458Val) c.5320A>G (p.Ile1774Val) c.5068A>G (p.Ile1690Val) c.3814A>G (p.Ile1272Val) | dbSNP |
16 | g.2088083A>T | CA394312229 | TSC2 | c.*3453A>T (n.*3453A>T) c.4951A>T (p.Ile1651Phe) c.5101A>T (p.Ile1701Phe) c.*5617A>T (n.*5617A>T) c.*7853A>T (n.*7853A>T) c.5104A>T (p.Ile1702Phe) c.5035A>T (p.Ile1679Phe) c.4903A>T (p.Ile1635Phe) c.4936A>T (p.Ile1646Phe) c.1327A>T n.2986A>T c.3758A>T c.4975A>T (p.Ile1659Phe) n.701A>T c.4906A>T (p.Ile1636Phe) c.4972A>T (p.Ile1658Phe) c.4897A>T (p.Ile1633Phe) n.2752A>T c.5029A>T (p.Ile1677Phe) c.4900A>T (p.Ile1634Phe) c.5025A>T n.3188A>T c.5098A>T (p.Ile1700Phe) n.3919A>T n.2356A>T n.2327A>T n.2217A>T c.4759A>T (p.Ile1587Phe) c.*4271A>T (n.*4271A>T) c.4795A>T (p.Ile1599Phe) n.2827A>T c.1286A>T n.2219A>T c.5158A>T (p.Ile1720Phe) c.5155A>T (p.Ile1719Phe) c.5047A>T (p.Ile1683Phe) c.5026A>T (p.Ile1676Phe) c.4372A>T (p.Ile1458Phe) c.5320A>T (p.Ile1774Phe) c.5068A>T (p.Ile1690Phe) c.3814A>T (p.Ile1272Phe) | dbSNP |
16 | g.2088084T>A | CA394312231 | TSC2 | c.*3454T>A (n.*3454T>A) c.4952T>A (p.Ile1651Asn) c.5102T>A (p.Ile1701Asn) c.*5618T>A (n.*5618T>A) c.*7854T>A (n.*7854T>A) c.5105T>A (p.Ile1702Asn) c.5036T>A (p.Ile1679Asn) c.4904T>A (p.Ile1635Asn) c.4937T>A (p.Ile1646Asn) c.1328T>A n.2987T>A c.3759T>A c.4976T>A (p.Ile1659Asn) n.702T>A c.4907T>A (p.Ile1636Asn) c.4973T>A (p.Ile1658Asn) c.4898T>A (p.Ile1633Asn) n.2753T>A c.5030T>A (p.Ile1677Asn) c.4901T>A (p.Ile1634Asn) c.5026T>A n.3189T>A c.5099T>A (p.Ile1700Asn) n.3920T>A n.2357T>A n.2328T>A n.2218T>A c.4760T>A (p.Ile1587Asn) c.*4272T>A (n.*4272T>A) c.4796T>A (p.Ile1599Asn) n.2828T>A c.1287T>A n.2220T>A c.5159T>A (p.Ile1720Asn) c.5156T>A (p.Ile1719Asn) c.5048T>A (p.Ile1683Asn) c.5027T>A (p.Ile1676Asn) c.4373T>A (p.Ile1458Asn) c.5321T>A (p.Ile1774Asn) c.5069T>A (p.Ile1690Asn) c.3815T>A (p.Ile1272Asn) | dbSNP |
16 | g.2088084T>C | CA394312234 | TSC2 | c.*3454T>C (n.*3454T>C) c.4952T>C (p.Ile1651Thr) c.5102T>C (p.Ile1701Thr) c.*5618T>C (n.*5618T>C) c.*7854T>C (n.*7854T>C) c.5105T>C (p.Ile1702Thr) c.5036T>C (p.Ile1679Thr) c.4904T>C (p.Ile1635Thr) c.4937T>C (p.Ile1646Thr) c.1328T>C n.2987T>C c.3759T>C c.4976T>C (p.Ile1659Thr) n.702T>C c.4907T>C (p.Ile1636Thr) c.4973T>C (p.Ile1658Thr) c.4898T>C (p.Ile1633Thr) n.2753T>C c.5030T>C (p.Ile1677Thr) c.4901T>C (p.Ile1634Thr) c.5026T>C n.3189T>C c.5099T>C (p.Ile1700Thr) n.3920T>C n.2357T>C n.2328T>C n.2218T>C c.4760T>C (p.Ile1587Thr) c.*4272T>C (n.*4272T>C) c.4796T>C (p.Ile1599Thr) n.2828T>C c.1287T>C n.2220T>C c.5159T>C (p.Ile1720Thr) c.5156T>C (p.Ile1719Thr) c.5048T>C (p.Ile1683Thr) c.5027T>C (p.Ile1676Thr) c.4373T>C (p.Ile1458Thr) c.5321T>C (p.Ile1774Thr) c.5069T>C (p.Ile1690Thr) c.3815T>C (p.Ile1272Thr) | dbSNP |
16 | g.2088084T>G | CA394312236 | TSC2 | c.*3454T>G (n.*3454T>G) c.4952T>G (p.Ile1651Ser) c.5102T>G (p.Ile1701Ser) c.*5618T>G (n.*5618T>G) c.*7854T>G (n.*7854T>G) c.5105T>G (p.Ile1702Ser) c.5036T>G (p.Ile1679Ser) c.4904T>G (p.Ile1635Ser) c.4937T>G (p.Ile1646Ser) c.1328T>G n.2987T>G c.3759T>G c.4976T>G (p.Ile1659Ser) n.702T>G c.4907T>G (p.Ile1636Ser) c.4973T>G (p.Ile1658Ser) c.4898T>G (p.Ile1633Ser) n.2753T>G c.5030T>G (p.Ile1677Ser) c.4901T>G (p.Ile1634Ser) c.5026T>G n.3189T>G c.5099T>G (p.Ile1700Ser) n.3920T>G n.2357T>G n.2328T>G n.2218T>G c.4760T>G (p.Ile1587Ser) c.*4272T>G (n.*4272T>G) c.4796T>G (p.Ile1599Ser) n.2828T>G c.1287T>G n.2220T>G c.5159T>G (p.Ile1720Ser) c.5156T>G (p.Ile1719Ser) c.5048T>G (p.Ile1683Ser) c.5027T>G (p.Ile1676Ser) c.4373T>G (p.Ile1458Ser) c.5321T>G (p.Ile1774Ser) c.5069T>G (p.Ile1690Ser) c.3815T>G (p.Ile1272Ser) | dbSNP |
16 | g.2088085C>A | CA021728 | TSC2 | c.*3455C>A (n.*3455C>A) c.4953C>A (p.Ile1651=) c.5103C>A (p.Ile1701=) c.*5619C>A (n.*5619C>A) c.*7855C>A (n.*7855C>A) c.5106C>A (p.Ile1702=) c.5037C>A (p.Ile1679=) c.4905C>A (p.Ile1635=) c.4938C>A (p.Ile1646=) c.1329C>A n.2988C>A c.3760C>A c.4977C>A (p.Ile1659=) n.703C>A c.4908C>A (p.Ile1636=) c.4974C>A (p.Ile1658=) c.4899C>A (p.Ile1633=) n.2754C>A c.5031C>A (p.Ile1677=) c.4902C>A (p.Ile1634=) c.5027C>A n.3190C>A c.5100C>A (p.Ile1700=) n.3921C>A n.2358C>A n.2329C>A n.2219C>A c.4761C>A (p.Ile1587=) c.*4273C>A (n.*4273C>A) c.4797C>A (p.Ile1599=) n.2829C>A c.1288C>A n.2221C>A c.5160C>A (p.Ile1720=) c.5157C>A (p.Ile1719=) c.5049C>A (p.Ile1683=) c.5028C>A (p.Ile1676=) c.4374C>A (p.Ile1458=) c.5322C>A (p.Ile1774=) c.5070C>A (p.Ile1690=) c.3816C>A (p.Ile1272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088085C= | CA2202030441 | TSC2 | c.*3455C= (n.*3455C=) c.4953C= (p.Ile1651=) c.5103C= (p.Ile1701=) c.*5619C= (n.*5619C=) c.*7855C= (n.*7855C=) c.5106C= (p.Ile1702=) c.5037C= (p.Ile1679=) c.4905C= (p.Ile1635=) c.4938C= (p.Ile1646=) c.1329C= n.2988C= c.3760C= c.4977C= (p.Ile1659=) n.703C= c.4908C= (p.Ile1636=) c.4974C= (p.Ile1658=) c.4899C= (p.Ile1633=) n.2754C= c.5031C= (p.Ile1677=) c.4902C= (p.Ile1634=) c.5027C= n.3190C= c.5100C= (p.Ile1700=) n.3921C= n.2358C= n.2329C= n.2219C= c.4761C= (p.Ile1587=) c.*4273C= (n.*4273C=) c.4797C= (p.Ile1599=) n.2829C= c.1288C= n.2221C= c.5160C= (p.Ile1720=) c.5157C= (p.Ile1719=) c.5049C= (p.Ile1683=) c.5028C= (p.Ile1676=) c.4374C= (p.Ile1458=) c.5322C= (p.Ile1774=) c.5070C= (p.Ile1690=) c.3816C= (p.Ile1272=) | |
16 | g.2088085C>G | CA394312240 | TSC2 | c.*3455C>G (n.*3455C>G) c.4953C>G (p.Ile1651Met) c.5103C>G (p.Ile1701Met) c.*5619C>G (n.*5619C>G) c.*7855C>G (n.*7855C>G) c.5106C>G (p.Ile1702Met) c.5037C>G (p.Ile1679Met) c.4905C>G (p.Ile1635Met) c.4938C>G (p.Ile1646Met) c.1329C>G n.2988C>G c.3760C>G c.4977C>G (p.Ile1659Met) n.703C>G c.4908C>G (p.Ile1636Met) c.4974C>G (p.Ile1658Met) c.4899C>G (p.Ile1633Met) n.2754C>G c.5031C>G (p.Ile1677Met) c.4902C>G (p.Ile1634Met) c.5027C>G n.3190C>G c.5100C>G (p.Ile1700Met) n.3921C>G n.2358C>G n.2329C>G n.2219C>G c.4761C>G (p.Ile1587Met) c.*4273C>G (n.*4273C>G) c.4797C>G (p.Ile1599Met) n.2829C>G c.1288C>G n.2221C>G c.5160C>G (p.Ile1720Met) c.5157C>G (p.Ile1719Met) c.5049C>G (p.Ile1683Met) c.5028C>G (p.Ile1676Met) c.4374C>G (p.Ile1458Met) c.5322C>G (p.Ile1774Met) c.5070C>G (p.Ile1690Met) c.3816C>G (p.Ile1272Met) | ClinVar dbSNP |
16 | g.2088085C>T | CA053958 | TSC2 | c.*3455C>T (n.*3455C>T) c.4953C>T (p.Ile1651=) c.5103C>T (p.Ile1701=) c.*5619C>T (n.*5619C>T) c.*7855C>T (n.*7855C>T) c.5106C>T (p.Ile1702=) c.5037C>T (p.Ile1679=) c.4905C>T (p.Ile1635=) c.4938C>T (p.Ile1646=) c.1329C>T n.2988C>T c.3760C>T c.4977C>T (p.Ile1659=) n.703C>T c.4908C>T (p.Ile1636=) c.4974C>T (p.Ile1658=) c.4899C>T (p.Ile1633=) n.2754C>T c.5031C>T (p.Ile1677=) c.4902C>T (p.Ile1634=) c.5027C>T n.3190C>T c.5100C>T (p.Ile1700=) n.3921C>T n.2358C>T n.2329C>T n.2219C>T c.4761C>T (p.Ile1587=) c.*4273C>T (n.*4273C>T) c.4797C>T (p.Ile1599=) n.2829C>T c.1288C>T n.2221C>T c.5160C>T (p.Ile1720=) c.5157C>T (p.Ile1719=) c.5049C>T (p.Ile1683=) c.5028C>T (p.Ile1676=) c.4374C>T (p.Ile1458=) c.5322C>T (p.Ile1774=) c.5070C>T (p.Ile1690=) c.3816C>T (p.Ile1272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088085_2088086insCACA | CA2695221743 | TSC2 | c.*3455_*3456insCACA (n.*3455_*3456insCACA) c.4953_4954insCACA (p.Val1652HisfsTer4) c.5103_5104insCACA (p.Val1702HisfsTer4) c.*5619_*5620insCACA (n.*5619_*5620insCACA) c.*7855_*7856insCACA (n.*7855_*7856insCACA) c.5106_5107insCACA (p.Val1703HisfsTer4) c.5037_5038insCACA (p.Val1680HisfsTer4) c.4905_4906insCACA (p.Val1636HisfsTer4) c.4938_4939insCACA (p.Val1647HisfsTer4) c.1329_1330insCACA n.2988_2989insCACA c.3760_3761insCACA c.4977_4978insCACA (p.Val1660HisfsTer4) n.703_704insCACA c.4908_4909insCACA (p.Val1637HisfsTer4) c.4974_4975insCACA (p.Val1659HisfsTer4) c.4899_4900insCACA (p.Val1634HisfsTer4) n.2754_2755insCACA c.5031_5032insCACA (p.Val1678HisfsTer4) c.4902_4903insCACA (p.Val1635HisfsTer4) c.5027_5028insCACA n.3190_3191insCACA c.5100_5101insCACA (p.Val1701HisfsTer4) n.3921_3922insCACA n.2358_2359insCACA n.2329_2330insCACA n.2219_2220insCACA c.4761_4762insCACA (p.Val1588HisfsTer4) c.*4273_*4274insCACA (n.*4273_*4274insCACA) c.4797_4798insCACA (p.Val1600HisfsTer4) n.2829_2830insCACA c.1288_1289insCACA n.2221_2222insCACA c.5160_5161insCACA (p.Val1721HisfsTer4) c.5157_5158insCACA (p.Val1720HisfsTer4) c.5049_5050insCACA (p.Val1684HisfsTer4) c.5028_5029insCACA (p.Val1677HisfsTer4) c.4374_4375insCACA (p.Val1459HisfsTer4) c.5322_5323insCACA (p.Val1775HisfsTer4) c.5070_5071insCACA (p.Val1691HisfsTer4) c.3816_3817insCACA (p.Val1273HisfsTer4) | |
16 | g.2088086G>A | CA394312247 | TSC2 | c.*3456G>A (n.*3456G>A) c.4954G>A (p.Val1652Met) c.5104G>A (p.Val1702Met) c.*5620G>A (n.*5620G>A) c.*7856G>A (n.*7856G>A) c.5107G>A (p.Val1703Met) c.5038G>A (p.Val1680Met) c.4906G>A (p.Val1636Met) c.4939G>A (p.Val1647Met) c.1330G>A n.2989G>A c.3761G>A c.4978G>A (p.Val1660Met) n.704G>A c.4909G>A (p.Val1637Met) c.4975G>A (p.Val1659Met) c.4900G>A (p.Val1634Met) n.2755G>A c.5032G>A (p.Val1678Met) c.4903G>A (p.Val1635Met) c.5028G>A n.3191G>A c.5101G>A (p.Val1701Met) n.3922G>A n.2359G>A n.2330G>A n.2220G>A c.4762G>A (p.Val1588Met) c.*4274G>A (n.*4274G>A) c.4798G>A (p.Val1600Met) n.2830G>A c.1289G>A n.2222G>A c.5161G>A (p.Val1721Met) c.5158G>A (p.Val1720Met) c.5050G>A (p.Val1684Met) c.5029G>A (p.Val1677Met) c.4375G>A (p.Val1459Met) c.5323G>A (p.Val1775Met) c.5071G>A (p.Val1691Met) c.3817G>A (p.Val1273Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088086G>C | CA394312250 | TSC2 | c.*3456G>C (n.*3456G>C) c.4954G>C (p.Val1652Leu) c.5104G>C (p.Val1702Leu) c.*5620G>C (n.*5620G>C) c.*7856G>C (n.*7856G>C) c.5107G>C (p.Val1703Leu) c.5038G>C (p.Val1680Leu) c.4906G>C (p.Val1636Leu) c.4939G>C (p.Val1647Leu) c.1330G>C n.2989G>C c.3761G>C c.4978G>C (p.Val1660Leu) n.704G>C c.4909G>C (p.Val1637Leu) c.4975G>C (p.Val1659Leu) c.4900G>C (p.Val1634Leu) n.2755G>C c.5032G>C (p.Val1678Leu) c.4903G>C (p.Val1635Leu) c.5028G>C n.3191G>C c.5101G>C (p.Val1701Leu) n.3922G>C n.2359G>C n.2330G>C n.2220G>C c.4762G>C (p.Val1588Leu) c.*4274G>C (n.*4274G>C) c.4798G>C (p.Val1600Leu) n.2830G>C c.1289G>C n.2222G>C c.5161G>C (p.Val1721Leu) c.5158G>C (p.Val1720Leu) c.5050G>C (p.Val1684Leu) c.5029G>C (p.Val1677Leu) c.4375G>C (p.Val1459Leu) c.5323G>C (p.Val1775Leu) c.5071G>C (p.Val1691Leu) c.3817G>C (p.Val1273Leu) | ClinVar dbSNP |
16 | g.2088086G= | CA2202030451 | TSC2 | c.*3456G= (n.*3456G=) c.4954G= (p.Val1652=) c.5104G= (p.Val1702=) c.*5620G= (n.*5620G=) c.*7856G= (n.*7856G=) c.5107G= (p.Val1703=) c.5038G= (p.Val1680=) c.4906G= (p.Val1636=) c.4939G= (p.Val1647=) c.1330G= n.2989G= c.3761G= c.4978G= (p.Val1660=) n.704G= c.4909G= (p.Val1637=) c.4975G= (p.Val1659=) c.4900G= (p.Val1634=) n.2755G= c.5032G= (p.Val1678=) c.4903G= (p.Val1635=) c.5028G= n.3191G= c.5101G= (p.Val1701=) n.3922G= n.2359G= n.2330G= n.2220G= c.4762G= (p.Val1588=) c.*4274G= (n.*4274G=) c.4798G= (p.Val1600=) n.2830G= c.1289G= n.2222G= c.5161G= (p.Val1721=) c.5158G= (p.Val1720=) c.5050G= (p.Val1684=) c.5029G= (p.Val1677=) c.4375G= (p.Val1459=) c.5323G= (p.Val1775=) c.5071G= (p.Val1691=) c.3817G= (p.Val1273=) | |
16 | g.2088086G>T | CA394312258 | TSC2 | c.*3456G>T (n.*3456G>T) c.4954G>T (p.Val1652Leu) c.5104G>T (p.Val1702Leu) c.*5620G>T (n.*5620G>T) c.*7856G>T (n.*7856G>T) c.5107G>T (p.Val1703Leu) c.5038G>T (p.Val1680Leu) c.4906G>T (p.Val1636Leu) c.4939G>T (p.Val1647Leu) c.1330G>T n.2989G>T c.3761G>T c.4978G>T (p.Val1660Leu) n.704G>T c.4909G>T (p.Val1637Leu) c.4975G>T (p.Val1659Leu) c.4900G>T (p.Val1634Leu) n.2755G>T c.5032G>T (p.Val1678Leu) c.4903G>T (p.Val1635Leu) c.5028G>T n.3191G>T c.5101G>T (p.Val1701Leu) n.3922G>T n.2359G>T n.2330G>T n.2220G>T c.4762G>T (p.Val1588Leu) c.*4274G>T (n.*4274G>T) c.4798G>T (p.Val1600Leu) n.2830G>T c.1289G>T n.2222G>T c.5161G>T (p.Val1721Leu) c.5158G>T (p.Val1720Leu) c.5050G>T (p.Val1684Leu) c.5029G>T (p.Val1677Leu) c.4375G>T (p.Val1459Leu) c.5323G>T (p.Val1775Leu) c.5071G>T (p.Val1691Leu) c.3817G>T (p.Val1273Leu) | |
16 | g.2088088_2088089del | CA2695221742 | TSC2 | c.*3458_*3459del (n.*3458_*3459del) c.4956_4957del (p.Ser1653Ter) c.5106_5107del (p.Ser1703Ter) c.*5622_*5623del (n.*5622_*5623del) c.*7858_*7859del (n.*7858_*7859del) c.5109_5110del (p.Ser1704Ter) c.5040_5041del (p.Ser1681Ter) c.4908_4909del (p.Ser1637Ter) c.4941_4942del (p.Ser1648Ter) c.1332_1333del n.2991_2992del c.3763_3764del c.4980_4981del (p.Ser1661Ter) n.706_707del c.4911_4912del (p.Ser1638Ter) c.4977_4978del (p.Ser1660Ter) c.4902_4903del (p.Ser1635Ter) n.2757_2758del c.5034_5035del (p.Ser1679Ter) c.4905_4906del (p.Ser1636Ter) c.5030_5031del n.3193_3194del c.5103_5104del (p.Ser1702Ter) n.3924_3925del n.2361_2362del n.2332_2333del n.2222_2223del c.4764_4765del (p.Ser1589Ter) c.*4276_*4277del (n.*4276_*4277del) c.4800_4801del (p.Ser1601Ter) n.2832_2833del c.1291_1292del n.2224_2225del c.5163_5164del (p.Ser1722Ter) c.5160_5161del (p.Ser1721Ter) c.5052_5053del (p.Ser1685Ter) c.5031_5032del (p.Ser1678Ter) c.4377_4378del (p.Ser1460Ter) c.5325_5326del (p.Ser1776Ter) c.5073_5074del (p.Ser1692Ter) c.3819_3820del (p.Ser1274Ter) | |
16 | g.2088087T>A | CA394312263 | TSC2 | c.*3457T>A (n.*3457T>A) c.4955T>A (p.Val1652Glu) c.5105T>A (p.Val1702Glu) c.*5621T>A (n.*5621T>A) c.*7857T>A (n.*7857T>A) c.5108T>A (p.Val1703Glu) c.5039T>A (p.Val1680Glu) c.4907T>A (p.Val1636Glu) c.4940T>A (p.Val1647Glu) c.1331T>A n.2990T>A c.3762T>A c.4979T>A (p.Val1660Glu) n.705T>A c.4910T>A (p.Val1637Glu) c.4976T>A (p.Val1659Glu) c.4901T>A (p.Val1634Glu) n.2756T>A c.5033T>A (p.Val1678Glu) c.4904T>A (p.Val1635Glu) c.5029T>A n.3192T>A c.5102T>A (p.Val1701Glu) n.3923T>A n.2360T>A n.2331T>A n.2221T>A c.4763T>A (p.Val1588Glu) c.*4275T>A (n.*4275T>A) c.4799T>A (p.Val1600Glu) n.2831T>A c.1290T>A n.2223T>A c.5162T>A (p.Val1721Glu) c.5159T>A (p.Val1720Glu) c.5051T>A (p.Val1684Glu) c.5030T>A (p.Val1677Glu) c.4376T>A (p.Val1459Glu) c.5324T>A (p.Val1775Glu) c.5072T>A (p.Val1691Glu) c.3818T>A (p.Val1273Glu) | dbSNP |
16 | g.2088087T>C | CA394312269 | TSC2 | c.*3457T>C (n.*3457T>C) c.4955T>C (p.Val1652Ala) c.5105T>C (p.Val1702Ala) c.*5621T>C (n.*5621T>C) c.*7857T>C (n.*7857T>C) c.5108T>C (p.Val1703Ala) c.5039T>C (p.Val1680Ala) c.4907T>C (p.Val1636Ala) c.4940T>C (p.Val1647Ala) c.1331T>C n.2990T>C c.3762T>C c.4979T>C (p.Val1660Ala) n.705T>C c.4910T>C (p.Val1637Ala) c.4976T>C (p.Val1659Ala) c.4901T>C (p.Val1634Ala) n.2756T>C c.5033T>C (p.Val1678Ala) c.4904T>C (p.Val1635Ala) c.5029T>C n.3192T>C c.5102T>C (p.Val1701Ala) n.3923T>C n.2360T>C n.2331T>C n.2221T>C c.4763T>C (p.Val1588Ala) c.*4275T>C (n.*4275T>C) c.4799T>C (p.Val1600Ala) n.2831T>C c.1290T>C n.2223T>C c.5162T>C (p.Val1721Ala) c.5159T>C (p.Val1720Ala) c.5051T>C (p.Val1684Ala) c.5030T>C (p.Val1677Ala) c.4376T>C (p.Val1459Ala) c.5324T>C (p.Val1775Ala) c.5072T>C (p.Val1691Ala) c.3818T>C (p.Val1273Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.2088087T>G | CA021740 | TSC2 | c.*3457T>G (n.*3457T>G) c.4955T>G (p.Val1652Gly) c.5105T>G (p.Val1702Gly) c.*5621T>G (n.*5621T>G) c.*7857T>G (n.*7857T>G) c.5108T>G (p.Val1703Gly) c.5039T>G (p.Val1680Gly) c.4907T>G (p.Val1636Gly) c.4940T>G (p.Val1647Gly) c.1331T>G n.2990T>G c.3762T>G c.4979T>G (p.Val1660Gly) n.705T>G c.4910T>G (p.Val1637Gly) c.4976T>G (p.Val1659Gly) c.4901T>G (p.Val1634Gly) n.2756T>G c.5033T>G (p.Val1678Gly) c.4904T>G (p.Val1635Gly) c.5029T>G n.3192T>G c.5102T>G (p.Val1701Gly) n.3923T>G n.2360T>G n.2331T>G n.2221T>G c.4763T>G (p.Val1588Gly) c.*4275T>G (n.*4275T>G) c.4799T>G (p.Val1600Gly) n.2831T>G c.1290T>G n.2223T>G c.5162T>G (p.Val1721Gly) c.5159T>G (p.Val1720Gly) c.5051T>G (p.Val1684Gly) c.5030T>G (p.Val1677Gly) c.4376T>G (p.Val1459Gly) c.5324T>G (p.Val1775Gly) c.5072T>G (p.Val1691Gly) c.3818T>G (p.Val1273Gly) | ClinVar dbSNP |
16 | g.2088087T= | CA2202030464 | TSC2 | c.*3457T= (n.*3457T=) c.4955T= (p.Val1652=) c.5105T= (p.Val1702=) c.*5621T= (n.*5621T=) c.*7857T= (n.*7857T=) c.5108T= (p.Val1703=) c.5039T= (p.Val1680=) c.4907T= (p.Val1636=) c.4940T= (p.Val1647=) c.1331T= n.2990T= c.3762T= c.4979T= (p.Val1660=) n.705T= c.4910T= (p.Val1637=) c.4976T= (p.Val1659=) c.4901T= (p.Val1634=) n.2756T= c.5033T= (p.Val1678=) c.4904T= (p.Val1635=) c.5029T= n.3192T= c.5102T= (p.Val1701=) n.3923T= n.2360T= n.2331T= n.2221T= c.4763T= (p.Val1588=) c.*4275T= (n.*4275T=) c.4799T= (p.Val1600=) n.2831T= c.1290T= n.2223T= c.5162T= (p.Val1721=) c.5159T= (p.Val1720=) c.5051T= (p.Val1684=) c.5030T= (p.Val1677=) c.4376T= (p.Val1459=) c.5324T= (p.Val1775=) c.5072T= (p.Val1691=) c.3818T= (p.Val1273=) | |
16 | g.2088087dup | CA021735 | TSC2 | c.*3457dup (n.*3457dup) c.4955dup (p.Ser1653ValfsTer2) c.5105dup (p.Ser1703ValfsTer2) c.*5621dup (n.*5621dup) c.*7857dup (n.*7857dup) c.5108dup (p.Ser1704ValfsTer2) c.5039dup (p.Ser1681ValfsTer2) c.4907dup (p.Ser1637ValfsTer2) c.4940dup (p.Ser1648ValfsTer2) c.1331dup n.2990dup c.3762dup c.4979dup (p.Ser1661ValfsTer2) n.705dup c.4910dup (p.Ser1638ValfsTer2) c.4976dup (p.Ser1660ValfsTer2) c.4901dup (p.Ser1635ValfsTer2) n.2756dup c.5033dup (p.Ser1679ValfsTer2) c.4904dup (p.Ser1636ValfsTer2) c.5029dup n.3192dup c.5102dup (p.Ser1702ValfsTer2) n.3923dup n.2360dup n.2331dup n.2221dup c.4763dup (p.Ser1589ValfsTer2) c.*4275dup (n.*4275dup) c.4799dup (p.Ser1601ValfsTer2) n.2831dup c.1290dup n.2223dup c.5162dup (p.Ser1722ValfsTer2) c.5159dup (p.Ser1721ValfsTer2) c.5051dup (p.Ser1685ValfsTer2) c.5030dup (p.Ser1678ValfsTer2) c.4376dup (p.Ser1460ValfsTer2) c.5324dup (p.Ser1776ValfsTer2) c.5072dup (p.Ser1692ValfsTer2) c.3818dup (p.Ser1274ValfsTer2) | ClinVar dbSNP |
16 | g.2088088G>A | CA276758905 | TSC2 | c.*3458G>A (n.*3458G>A) c.4956G>A (p.Val1652=) c.5106G>A (p.Val1702=) c.*5622G>A (n.*5622G>A) c.*7858G>A (n.*7858G>A) c.5109G>A (p.Val1703=) c.5040G>A (p.Val1680=) c.4908G>A (p.Val1636=) c.4941G>A (p.Val1647=) c.1332G>A n.2991G>A c.3763G>A c.4980G>A (p.Val1660=) n.706G>A c.4911G>A (p.Val1637=) c.4977G>A (p.Val1659=) c.4902G>A (p.Val1634=) n.2757G>A c.5034G>A (p.Val1678=) c.4905G>A (p.Val1635=) c.5030G>A n.3193G>A c.5103G>A (p.Val1701=) n.3924G>A n.2361G>A n.2332G>A n.2222G>A c.4764G>A (p.Val1588=) c.*4276G>A (n.*4276G>A) c.4800G>A (p.Val1600=) n.2832G>A c.1291G>A n.2224G>A c.5163G>A (p.Val1721=) c.5160G>A (p.Val1720=) c.5052G>A (p.Val1684=) c.5031G>A (p.Val1677=) c.4377G>A (p.Val1459=) c.5325G>A (p.Val1775=) c.5073G>A (p.Val1691=) c.3819G>A (p.Val1273=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088088G>C | CA053961 | TSC2 | c.*3458G>C (n.*3458G>C) c.4956G>C (p.Val1652=) c.5106G>C (p.Val1702=) c.*5622G>C (n.*5622G>C) c.*7858G>C (n.*7858G>C) c.5109G>C (p.Val1703=) c.5040G>C (p.Val1680=) c.4908G>C (p.Val1636=) c.4941G>C (p.Val1647=) c.1332G>C n.2991G>C c.3763G>C c.4980G>C (p.Val1660=) n.706G>C c.4911G>C (p.Val1637=) c.4977G>C (p.Val1659=) c.4902G>C (p.Val1634=) n.2757G>C c.5034G>C (p.Val1678=) c.4905G>C (p.Val1635=) c.5030G>C n.3193G>C c.5103G>C (p.Val1701=) n.3924G>C n.2361G>C n.2332G>C n.2222G>C c.4764G>C (p.Val1588=) c.*4276G>C (n.*4276G>C) c.4800G>C (p.Val1600=) n.2832G>C c.1291G>C n.2224G>C c.5163G>C (p.Val1721=) c.5160G>C (p.Val1720=) c.5052G>C (p.Val1684=) c.5031G>C (p.Val1677=) c.4377G>C (p.Val1459=) c.5325G>C (p.Val1775=) c.5073G>C (p.Val1691=) c.3819G>C (p.Val1273=) | ClinVar dbSNP ExAC gnomAD v2 |
16 | g.2088088G= | CA2202030470 | TSC2 | c.*3458G= (n.*3458G=) c.4956G= (p.Val1652=) c.5106G= (p.Val1702=) c.*5622G= (n.*5622G=) c.*7858G= (n.*7858G=) c.5109G= (p.Val1703=) c.5040G= (p.Val1680=) c.4908G= (p.Val1636=) c.4941G= (p.Val1647=) c.1332G= n.2991G= c.3763G= c.4980G= (p.Val1660=) n.706G= c.4911G= (p.Val1637=) c.4977G= (p.Val1659=) c.4902G= (p.Val1634=) n.2757G= c.5034G= (p.Val1678=) c.4905G= (p.Val1635=) c.5030G= n.3193G= c.5103G= (p.Val1701=) n.3924G= n.2361G= n.2332G= n.2222G= c.4764G= (p.Val1588=) c.*4276G= (n.*4276G=) c.4800G= (p.Val1600=) n.2832G= c.1291G= n.2224G= c.5163G= (p.Val1721=) c.5160G= (p.Val1720=) c.5052G= (p.Val1684=) c.5031G= (p.Val1677=) c.4377G= (p.Val1459=) c.5325G= (p.Val1775=) c.5073G= (p.Val1691=) c.3819G= (p.Val1273=) | |
16 | g.2088088G>T | CA493043647 | TSC2 | c.*3458G>T (n.*3458G>T) c.4956G>T (p.Val1652=) c.5106G>T (p.Val1702=) c.*5622G>T (n.*5622G>T) c.*7858G>T (n.*7858G>T) c.5109G>T (p.Val1703=) c.5040G>T (p.Val1680=) c.4908G>T (p.Val1636=) c.4941G>T (p.Val1647=) c.1332G>T n.2991G>T c.3763G>T c.4980G>T (p.Val1660=) n.706G>T c.4911G>T (p.Val1637=) c.4977G>T (p.Val1659=) c.4902G>T (p.Val1634=) n.2757G>T c.5034G>T (p.Val1678=) c.4905G>T (p.Val1635=) c.5030G>T n.3193G>T c.5103G>T (p.Val1701=) n.3924G>T n.2361G>T n.2332G>T n.2222G>T c.4764G>T (p.Val1588=) c.*4276G>T (n.*4276G>T) c.4800G>T (p.Val1600=) n.2832G>T c.1291G>T n.2224G>T c.5163G>T (p.Val1721=) c.5160G>T (p.Val1720=) c.5052G>T (p.Val1684=) c.5031G>T (p.Val1677=) c.4377G>T (p.Val1459=) c.5325G>T (p.Val1775=) c.5073G>T (p.Val1691=) c.3819G>T (p.Val1273=) | |
16 | g.2088089T>A | CA021746 | TSC2 | c.*3459T>A (n.*3459T>A) c.4957T>A (p.Ser1653Thr) c.5107T>A (p.Ser1703Thr) c.*5623T>A (n.*5623T>A) c.*7859T>A (n.*7859T>A) c.5110T>A (p.Ser1704Thr) c.5041T>A (p.Ser1681Thr) c.4909T>A (p.Ser1637Thr) c.4942T>A (p.Ser1648Thr) c.1333T>A n.2992T>A c.3764T>A c.4981T>A (p.Ser1661Thr) n.707T>A c.4912T>A (p.Ser1638Thr) c.4978T>A (p.Ser1660Thr) c.4903T>A (p.Ser1635Thr) n.2758T>A c.5035T>A (p.Ser1679Thr) c.4906T>A (p.Ser1636Thr) c.5031T>A n.3194T>A c.5104T>A (p.Ser1702Thr) n.3925T>A n.2362T>A n.2333T>A n.2223T>A c.4765T>A (p.Ser1589Thr) c.*4277T>A (n.*4277T>A) c.4801T>A (p.Ser1601Thr) n.2833T>A c.1292T>A n.2225T>A c.5164T>A (p.Ser1722Thr) c.5161T>A (p.Ser1721Thr) c.5053T>A (p.Ser1685Thr) c.5032T>A (p.Ser1678Thr) c.4378T>A (p.Ser1460Thr) c.5326T>A (p.Ser1776Thr) c.5074T>A (p.Ser1692Thr) c.3820T>A (p.Ser1274Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088089T>C | CA394312277 | TSC2 | c.*3459T>C (n.*3459T>C) c.4957T>C (p.Ser1653Pro) c.5107T>C (p.Ser1703Pro) c.*5623T>C (n.*5623T>C) c.*7859T>C (n.*7859T>C) c.5110T>C (p.Ser1704Pro) c.5041T>C (p.Ser1681Pro) c.4909T>C (p.Ser1637Pro) c.4942T>C (p.Ser1648Pro) c.1333T>C n.2992T>C c.3764T>C c.4981T>C (p.Ser1661Pro) n.707T>C c.4912T>C (p.Ser1638Pro) c.4978T>C (p.Ser1660Pro) c.4903T>C (p.Ser1635Pro) n.2758T>C c.5035T>C (p.Ser1679Pro) c.4906T>C (p.Ser1636Pro) c.5031T>C n.3194T>C c.5104T>C (p.Ser1702Pro) n.3925T>C n.2362T>C n.2333T>C n.2223T>C c.4765T>C (p.Ser1589Pro) c.*4277T>C (n.*4277T>C) c.4801T>C (p.Ser1601Pro) n.2833T>C c.1292T>C n.2225T>C c.5164T>C (p.Ser1722Pro) c.5161T>C (p.Ser1721Pro) c.5053T>C (p.Ser1685Pro) c.5032T>C (p.Ser1678Pro) c.4378T>C (p.Ser1460Pro) c.5326T>C (p.Ser1776Pro) c.5074T>C (p.Ser1692Pro) c.3820T>C (p.Ser1274Pro) | ClinVar dbSNP |
16 | g.2088089T>G | CA053976 | TSC2 | c.*3459T>G (n.*3459T>G) c.4957T>G (p.Ser1653Ala) c.5107T>G (p.Ser1703Ala) c.*5623T>G (n.*5623T>G) c.*7859T>G (n.*7859T>G) c.5110T>G (p.Ser1704Ala) c.5041T>G (p.Ser1681Ala) c.4909T>G (p.Ser1637Ala) c.4942T>G (p.Ser1648Ala) c.1333T>G n.2992T>G c.3764T>G c.4981T>G (p.Ser1661Ala) n.707T>G c.4912T>G (p.Ser1638Ala) c.4978T>G (p.Ser1660Ala) c.4903T>G (p.Ser1635Ala) n.2758T>G c.5035T>G (p.Ser1679Ala) c.4906T>G (p.Ser1636Ala) c.5031T>G n.3194T>G c.5104T>G (p.Ser1702Ala) n.3925T>G n.2362T>G n.2333T>G n.2223T>G c.4765T>G (p.Ser1589Ala) c.*4277T>G (n.*4277T>G) c.4801T>G (p.Ser1601Ala) n.2833T>G c.1292T>G n.2225T>G c.5164T>G (p.Ser1722Ala) c.5161T>G (p.Ser1721Ala) c.5053T>G (p.Ser1685Ala) c.5032T>G (p.Ser1678Ala) c.4378T>G (p.Ser1460Ala) c.5326T>G (p.Ser1776Ala) c.5074T>G (p.Ser1692Ala) c.3820T>G (p.Ser1274Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088089T= | CA2202030481 | TSC2 | c.*3459T= (n.*3459T=) c.4957T= (p.Ser1653=) c.5107T= (p.Ser1703=) c.*5623T= (n.*5623T=) c.*7859T= (n.*7859T=) c.5110T= (p.Ser1704=) c.5041T= (p.Ser1681=) c.4909T= (p.Ser1637=) c.4942T= (p.Ser1648=) c.1333T= n.2992T= c.3764T= c.4981T= (p.Ser1661=) n.707T= c.4912T= (p.Ser1638=) c.4978T= (p.Ser1660=) c.4903T= (p.Ser1635=) n.2758T= c.5035T= (p.Ser1679=) c.4906T= (p.Ser1636=) c.5031T= n.3194T= c.5104T= (p.Ser1702=) n.3925T= n.2362T= n.2333T= n.2223T= c.4765T= (p.Ser1589=) c.*4277T= (n.*4277T=) c.4801T= (p.Ser1601=) n.2833T= c.1292T= n.2225T= c.5164T= (p.Ser1722=) c.5161T= (p.Ser1721=) c.5053T= (p.Ser1685=) c.5032T= (p.Ser1678=) c.4378T= (p.Ser1460=) c.5326T= (p.Ser1776=) c.5074T= (p.Ser1692=) c.3820T= (p.Ser1274=) | |
16 | g.2088090_2088091dup | CA2580091151 | TSC2 | c.*3460_*3461dup (n.*3460_*3461dup) c.4958_4959dup (p.Asp1654LeufsTer?) c.5108_5109dup (p.Asp1704LeufsTer?) c.*5624_*5625dup (n.*5624_*5625dup) c.*7860_*7861dup (n.*7860_*7861dup) c.5111_5112dup (p.Asp1705LeufsTer?) c.5042_5043dup (p.Asp1682LeufsTer?) c.4910_4911dup (p.Asp1638LeufsTer?) c.4943_4944dup (p.Asp1649LeufsTer?) c.1334_1335dup n.2993_2994dup c.3765_3766dup c.4982_4983dup (p.Asp1662LeufsTer?) n.708_709dup c.4913_4914dup (p.Asp1639LeufsTer?) c.4979_4980dup (p.Asp1661LeufsTer?) c.4904_4905dup (p.Asp1636LeufsTer?) n.2759_2760dup c.5036_5037dup (p.Asp1680LeufsTer?) c.4910_4911dup (p.Asp1638LeufsTer18) c.4907_4908dup (p.Asp1637LeufsTer?) c.5032_5033dup n.3195_3196dup c.5105_5106dup (p.Asp1703LeufsTer?) n.3926_3927dup n.2363_2364dup n.2334_2335dup n.2224_2225dup c.4766_4767dup (p.Asp1590LeufsTer?) c.*4278_*4279dup (n.*4278_*4279dup) c.4802_4803dup (p.Asp1602LeufsTer?) n.2834_2835dup c.1293_1294dup n.2226_2227dup c.5165_5166dup (p.Asp1723LeufsTer?) c.5162_5163dup (p.Asp1722LeufsTer?) c.5054_5055dup (p.Asp1686LeufsTer?) c.5033_5034dup (p.Asp1679LeufsTer?) c.4379_4380dup (p.Asp1461LeufsTer?) c.5327_5328dup (p.Asp1777LeufsTer?) c.5075_5076dup (p.Asp1693LeufsTer?) c.3821_3822dup (p.Asp1275LeufsTer?) | ClinVar |
16 | g.2088090C>A | CA394312286 | TSC2 | c.*3460C>A (n.*3460C>A) c.4958C>A (p.Ser1653Tyr) c.5108C>A (p.Ser1703Tyr) c.*5624C>A (n.*5624C>A) c.*7860C>A (n.*7860C>A) c.5111C>A (p.Ser1704Tyr) c.5042C>A (p.Ser1681Tyr) c.4910C>A (p.Ser1637Tyr) c.4943C>A (p.Ser1648Tyr) c.1334C>A n.2993C>A c.3765C>A c.4982C>A (p.Ser1661Tyr) n.708C>A c.4913C>A (p.Ser1638Tyr) c.4979C>A (p.Ser1660Tyr) c.4904C>A (p.Ser1635Tyr) n.2759C>A c.5036C>A (p.Ser1679Tyr) c.4907C>A (p.Ser1636Tyr) c.5032C>A n.3195C>A c.5105C>A (p.Ser1702Tyr) n.3926C>A n.2363C>A n.2334C>A n.2224C>A c.4766C>A (p.Ser1589Tyr) c.*4278C>A (n.*4278C>A) c.4802C>A (p.Ser1601Tyr) n.2834C>A c.1293C>A n.2226C>A c.5165C>A (p.Ser1722Tyr) c.5162C>A (p.Ser1721Tyr) c.5054C>A (p.Ser1685Tyr) c.5033C>A (p.Ser1678Tyr) c.4379C>A (p.Ser1460Tyr) c.5327C>A (p.Ser1776Tyr) c.5075C>A (p.Ser1692Tyr) c.3821C>A (p.Ser1274Tyr) | dbSNP |
16 | g.2088090C= | CA2202030485 | TSC2 | c.*3460C= (n.*3460C=) c.4958C= (p.Ser1653=) c.5108C= (p.Ser1703=) c.*5624C= (n.*5624C=) c.*7860C= (n.*7860C=) c.5111C= (p.Ser1704=) c.5042C= (p.Ser1681=) c.4910C= (p.Ser1637=) c.4943C= (p.Ser1648=) c.1334C= n.2993C= c.3765C= c.4982C= (p.Ser1661=) n.708C= c.4913C= (p.Ser1638=) c.4979C= (p.Ser1660=) c.4904C= (p.Ser1635=) n.2759C= c.5036C= (p.Ser1679=) c.4907C= (p.Ser1636=) c.5032C= n.3195C= c.5105C= (p.Ser1702=) n.3926C= n.2363C= n.2334C= n.2224C= c.4766C= (p.Ser1589=) c.*4278C= (n.*4278C=) c.4802C= (p.Ser1601=) n.2834C= c.1293C= n.2226C= c.5165C= (p.Ser1722=) c.5162C= (p.Ser1721=) c.5054C= (p.Ser1685=) c.5033C= (p.Ser1678=) c.4379C= (p.Ser1460=) c.5327C= (p.Ser1776=) c.5075C= (p.Ser1692=) c.3821C= (p.Ser1274=) | |
16 | g.2088090C>G | CA394312290 | TSC2 | c.*3460C>G (n.*3460C>G) c.4958C>G (p.Ser1653Cys) c.5108C>G (p.Ser1703Cys) c.*5624C>G (n.*5624C>G) c.*7860C>G (n.*7860C>G) c.5111C>G (p.Ser1704Cys) c.5042C>G (p.Ser1681Cys) c.4910C>G (p.Ser1637Cys) c.4943C>G (p.Ser1648Cys) c.1334C>G n.2993C>G c.3765C>G c.4982C>G (p.Ser1661Cys) n.708C>G c.4913C>G (p.Ser1638Cys) c.4979C>G (p.Ser1660Cys) c.4904C>G (p.Ser1635Cys) n.2759C>G c.5036C>G (p.Ser1679Cys) c.4907C>G (p.Ser1636Cys) c.5032C>G n.3195C>G c.5105C>G (p.Ser1702Cys) n.3926C>G n.2363C>G n.2334C>G n.2224C>G c.4766C>G (p.Ser1589Cys) c.*4278C>G (n.*4278C>G) c.4802C>G (p.Ser1601Cys) n.2834C>G c.1293C>G n.2226C>G c.5165C>G (p.Ser1722Cys) c.5162C>G (p.Ser1721Cys) c.5054C>G (p.Ser1685Cys) c.5033C>G (p.Ser1678Cys) c.4379C>G (p.Ser1460Cys) c.5327C>G (p.Ser1776Cys) c.5075C>G (p.Ser1692Cys) c.3821C>G (p.Ser1274Cys) | dbSNP |
16 | g.2088090C>T | CA394312293 | TSC2 | c.*3460C>T (n.*3460C>T) c.4958C>T (p.Ser1653Phe) c.5108C>T (p.Ser1703Phe) c.*5624C>T (n.*5624C>T) c.*7860C>T (n.*7860C>T) c.5111C>T (p.Ser1704Phe) c.5042C>T (p.Ser1681Phe) c.4910C>T (p.Ser1637Phe) c.4943C>T (p.Ser1648Phe) c.1334C>T n.2993C>T c.3765C>T c.4982C>T (p.Ser1661Phe) n.708C>T c.4913C>T (p.Ser1638Phe) c.4979C>T (p.Ser1660Phe) c.4904C>T (p.Ser1635Phe) n.2759C>T c.5036C>T (p.Ser1679Phe) c.4907C>T (p.Ser1636Phe) c.5032C>T n.3195C>T c.5105C>T (p.Ser1702Phe) n.3926C>T n.2363C>T n.2334C>T n.2224C>T c.4766C>T (p.Ser1589Phe) c.*4278C>T (n.*4278C>T) c.4802C>T (p.Ser1601Phe) n.2834C>T c.1293C>T n.2226C>T c.5165C>T (p.Ser1722Phe) c.5162C>T (p.Ser1721Phe) c.5054C>T (p.Ser1685Phe) c.5033C>T (p.Ser1678Phe) c.4379C>T (p.Ser1460Phe) c.5327C>T (p.Ser1776Phe) c.5075C>T (p.Ser1692Phe) c.3821C>T (p.Ser1274Phe) | dbSNP |
16 | g.2088091T>A | CA053984 | TSC2 | c.*3461T>A (n.*3461T>A) c.4959T>A (p.Ser1653=) c.5109T>A (p.Ser1703=) c.*5625T>A (n.*5625T>A) c.*7861T>A (n.*7861T>A) c.5112T>A (p.Ser1704=) c.5043T>A (p.Ser1681=) c.4911T>A (p.Ser1637=) c.4944T>A (p.Ser1648=) c.1335T>A n.2994T>A c.3766T>A c.4983T>A (p.Ser1661=) n.709T>A c.4914T>A (p.Ser1638=) c.4980T>A (p.Ser1660=) c.4905T>A (p.Ser1635=) n.2760T>A c.5037T>A (p.Ser1679=) c.4908T>A (p.Ser1636=) c.5033T>A n.3196T>A c.5106T>A (p.Ser1702=) n.3927T>A n.2364T>A n.2335T>A n.2225T>A c.4767T>A (p.Ser1589=) c.*4279T>A (n.*4279T>A) c.4803T>A (p.Ser1601=) n.2835T>A c.1294T>A n.2227T>A c.5166T>A (p.Ser1722=) c.5163T>A (p.Ser1721=) c.5055T>A (p.Ser1685=) c.5034T>A (p.Ser1678=) c.4380T>A (p.Ser1460=) c.5328T>A (p.Ser1776=) c.5076T>A (p.Ser1692=) c.3822T>A (p.Ser1274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088091T>C | CA493043649 | TSC2 | c.*3461T>C (n.*3461T>C) c.4959T>C (p.Ser1653=) c.5109T>C (p.Ser1703=) c.*5625T>C (n.*5625T>C) c.*7861T>C (n.*7861T>C) c.5112T>C (p.Ser1704=) c.5043T>C (p.Ser1681=) c.4911T>C (p.Ser1637=) c.4944T>C (p.Ser1648=) c.1335T>C n.2994T>C c.3766T>C c.4983T>C (p.Ser1661=) n.709T>C c.4914T>C (p.Ser1638=) c.4980T>C (p.Ser1660=) c.4905T>C (p.Ser1635=) n.2760T>C c.5037T>C (p.Ser1679=) c.4908T>C (p.Ser1636=) c.5033T>C n.3196T>C c.5106T>C (p.Ser1702=) n.3927T>C n.2364T>C n.2335T>C n.2225T>C c.4767T>C (p.Ser1589=) c.*4279T>C (n.*4279T>C) c.4803T>C (p.Ser1601=) n.2835T>C c.1294T>C n.2227T>C c.5166T>C (p.Ser1722=) c.5163T>C (p.Ser1721=) c.5055T>C (p.Ser1685=) c.5034T>C (p.Ser1678=) c.4380T>C (p.Ser1460=) c.5328T>C (p.Ser1776=) c.5076T>C (p.Ser1692=) c.3822T>C (p.Ser1274=) | dbSNP |
16 | g.2088091T>G | CA493043650 | TSC2 | c.*3461T>G (n.*3461T>G) c.4959T>G (p.Ser1653=) c.5109T>G (p.Ser1703=) c.*5625T>G (n.*5625T>G) c.*7861T>G (n.*7861T>G) c.5112T>G (p.Ser1704=) c.5043T>G (p.Ser1681=) c.4911T>G (p.Ser1637=) c.4944T>G (p.Ser1648=) c.1335T>G n.2994T>G c.3766T>G c.4983T>G (p.Ser1661=) n.709T>G c.4914T>G (p.Ser1638=) c.4980T>G (p.Ser1660=) c.4905T>G (p.Ser1635=) n.2760T>G c.5037T>G (p.Ser1679=) c.4908T>G (p.Ser1636=) c.5033T>G n.3196T>G c.5106T>G (p.Ser1702=) n.3927T>G n.2364T>G n.2335T>G n.2225T>G c.4767T>G (p.Ser1589=) c.*4279T>G (n.*4279T>G) c.4803T>G (p.Ser1601=) n.2835T>G c.1294T>G n.2227T>G c.5166T>G (p.Ser1722=) c.5163T>G (p.Ser1721=) c.5055T>G (p.Ser1685=) c.5034T>G (p.Ser1678=) c.4380T>G (p.Ser1460=) c.5328T>G (p.Ser1776=) c.5076T>G (p.Ser1692=) c.3822T>G (p.Ser1274=) | |
16 | g.2088091T= | CA2202030490 | TSC2 | c.*3461T= (n.*3461T=) c.4959T= (p.Ser1653=) c.5109T= (p.Ser1703=) c.*5625T= (n.*5625T=) c.*7861T= (n.*7861T=) c.5112T= (p.Ser1704=) c.5043T= (p.Ser1681=) c.4911T= (p.Ser1637=) c.4944T= (p.Ser1648=) c.1335T= n.2994T= c.3766T= c.4983T= (p.Ser1661=) n.709T= c.4914T= (p.Ser1638=) c.4980T= (p.Ser1660=) c.4905T= (p.Ser1635=) n.2760T= c.5037T= (p.Ser1679=) c.4908T= (p.Ser1636=) c.5033T= n.3196T= c.5106T= (p.Ser1702=) n.3927T= n.2364T= n.2335T= n.2225T= c.4767T= (p.Ser1589=) c.*4279T= (n.*4279T=) c.4803T= (p.Ser1601=) n.2835T= c.1294T= n.2227T= c.5166T= (p.Ser1722=) c.5163T= (p.Ser1721=) c.5055T= (p.Ser1685=) c.5034T= (p.Ser1678=) c.4380T= (p.Ser1460=) c.5328T= (p.Ser1776=) c.5076T= (p.Ser1692=) c.3822T= (p.Ser1274=) | |
16 | g.2088091dup | CA021751 | TSC2 | c.*3461dup (n.*3461dup) c.4959dup (p.Asp1654Ter) c.5109dup (p.Asp1704Ter) c.*5625dup (n.*5625dup) c.*7861dup (n.*7861dup) c.5112dup (p.Asp1705Ter) c.5043dup (p.Asp1682Ter) c.4911dup (p.Asp1638Ter) c.4944dup (p.Asp1649Ter) c.1335dup n.2994dup c.3766dup c.4983dup (p.Asp1662Ter) n.709dup c.4914dup (p.Asp1639Ter) c.4980dup (p.Asp1661Ter) c.4905dup (p.Asp1636Ter) n.2760dup c.5037dup (p.Asp1680Ter) c.4908dup (p.Asp1637Ter) c.5033dup n.3196dup c.5106dup (p.Asp1703Ter) n.3927dup n.2364dup n.2335dup n.2225dup c.4767dup (p.Asp1590Ter) c.*4279dup (n.*4279dup) c.4803dup (p.Asp1602Ter) n.2835dup c.1294dup n.2227dup c.5166dup (p.Asp1723Ter) c.5163dup (p.Asp1722Ter) c.5055dup (p.Asp1686Ter) c.5034dup (p.Asp1679Ter) c.4380dup (p.Asp1461Ter) c.5328dup (p.Asp1777Ter) c.5076dup (p.Asp1693Ter) c.3822dup (p.Asp1275Ter) | ClinVar dbSNP |
16 | g.2088092G>A | CA394312304 | TSC2 | c.*3462G>A (n.*3462G>A) c.4960G>A (p.Asp1654Asn) c.5110G>A (p.Asp1704Asn) c.*5626G>A (n.*5626G>A) c.*7862G>A (n.*7862G>A) c.5113G>A (p.Asp1705Asn) c.5044G>A (p.Asp1682Asn) c.4912G>A (p.Asp1638Asn) c.4945G>A (p.Asp1649Asn) c.1336G>A n.2995G>A c.3767G>A c.4984G>A (p.Asp1662Asn) n.710G>A c.4915G>A (p.Asp1639Asn) c.4981G>A (p.Asp1661Asn) c.4906G>A (p.Asp1636Asn) n.2761G>A c.5038G>A (p.Asp1680Asn) c.4909G>A (p.Asp1637Asn) c.5034G>A n.3197G>A c.5107G>A (p.Asp1703Asn) n.3928G>A n.2365G>A n.2336G>A n.2226G>A c.4768G>A (p.Asp1590Asn) c.*4280G>A (n.*4280G>A) c.4804G>A (p.Asp1602Asn) n.2836G>A c.1295G>A n.2228G>A c.5167G>A (p.Asp1723Asn) c.5164G>A (p.Asp1722Asn) c.5056G>A (p.Asp1686Asn) c.5035G>A (p.Asp1679Asn) c.4381G>A (p.Asp1461Asn) c.5329G>A (p.Asp1777Asn) c.5077G>A (p.Asp1693Asn) c.3823G>A (p.Asp1275Asn) | dbSNP |
16 | g.2088092G>C | CA394312306 | TSC2 | c.*3462G>C (n.*3462G>C) c.4960G>C (p.Asp1654His) c.5110G>C (p.Asp1704His) c.*5626G>C (n.*5626G>C) c.*7862G>C (n.*7862G>C) c.5113G>C (p.Asp1705His) c.5044G>C (p.Asp1682His) c.4912G>C (p.Asp1638His) c.4945G>C (p.Asp1649His) c.1336G>C n.2995G>C c.3767G>C c.4984G>C (p.Asp1662His) n.710G>C c.4915G>C (p.Asp1639His) c.4981G>C (p.Asp1661His) c.4906G>C (p.Asp1636His) n.2761G>C c.5038G>C (p.Asp1680His) c.4909G>C (p.Asp1637His) c.5034G>C n.3197G>C c.5107G>C (p.Asp1703His) n.3928G>C n.2365G>C n.2336G>C n.2226G>C c.4768G>C (p.Asp1590His) c.*4280G>C (n.*4280G>C) c.4804G>C (p.Asp1602His) n.2836G>C c.1295G>C n.2228G>C c.5167G>C (p.Asp1723His) c.5164G>C (p.Asp1722His) c.5056G>C (p.Asp1686His) c.5035G>C (p.Asp1679His) c.4381G>C (p.Asp1461His) c.5329G>C (p.Asp1777His) c.5077G>C (p.Asp1693His) c.3823G>C (p.Asp1275His) | dbSNP |
16 | g.2088092G>T | CA394312310 | TSC2 | c.*3462G>T (n.*3462G>T) c.4960G>T (p.Asp1654Tyr) c.5110G>T (p.Asp1704Tyr) c.*5626G>T (n.*5626G>T) c.*7862G>T (n.*7862G>T) c.5113G>T (p.Asp1705Tyr) c.5044G>T (p.Asp1682Tyr) c.4912G>T (p.Asp1638Tyr) c.4945G>T (p.Asp1649Tyr) c.1336G>T n.2995G>T c.3767G>T c.4984G>T (p.Asp1662Tyr) n.710G>T c.4915G>T (p.Asp1639Tyr) c.4981G>T (p.Asp1661Tyr) c.4906G>T (p.Asp1636Tyr) n.2761G>T c.5038G>T (p.Asp1680Tyr) c.4909G>T (p.Asp1637Tyr) c.5034G>T n.3197G>T c.5107G>T (p.Asp1703Tyr) n.3928G>T n.2365G>T n.2336G>T n.2226G>T c.4768G>T (p.Asp1590Tyr) c.*4280G>T (n.*4280G>T) c.4804G>T (p.Asp1602Tyr) n.2836G>T c.1295G>T n.2228G>T c.5167G>T (p.Asp1723Tyr) c.5164G>T (p.Asp1722Tyr) c.5056G>T (p.Asp1686Tyr) c.5035G>T (p.Asp1679Tyr) c.4381G>T (p.Asp1461Tyr) c.5329G>T (p.Asp1777Tyr) c.5077G>T (p.Asp1693Tyr) c.3823G>T (p.Asp1275Tyr) | gnomAD v4 |
16 | g.2088093_2088096dup | CA2573151971 | TSC2 | c.*3463_*3466dup (n.*3463_*3466dup) c.4961_4964dup (p.Asn1656ProfsTer23) c.5111_5114dup (p.Asn1706ProfsTer23) c.*5627_*5630dup (n.*5627_*5630dup) c.*7863_*7866dup (n.*7863_*7866dup) c.5114_5117dup (p.Asn1707ProfsTer23) c.5045_5048dup (p.Asn1684ProfsTer23) c.4913_4916dup (p.Asn1640ProfsTer23) c.4946_4949dup (p.Asn1651ProfsTer23) c.1337_1340dup n.2996_2999dup c.3768_3771dup c.4985_4988dup (p.Asn1664ProfsTer19) n.711_714dup c.4916_4919dup (p.Asn1641ProfsTer23) c.4982_4985dup (p.Asn1663ProfsTer23) c.4907_4910dup (p.Asn1638ProfsTer23) n.2762_2765dup c.5039_5042dup (p.Asn1682ProfsTer23) c.4985_4988dup (p.Asn1664ProfsTer23) c.4913_4916dup (p.Asn1640ProfsTer24) c.4910_4913dup (p.Asn1639ProfsTer23) c.5035_5038dup n.3198_3201dup c.5108_5111dup (p.Asn1705ProfsTer23) n.3929_3932dup n.2366_2369dup n.2337_2340dup n.2227_2230dup c.4769_4772dup (p.Asn1592ProfsTer23) c.*4281_*4284dup (n.*4281_*4284dup) c.4805_4808dup (p.Asn1604ProfsTer23) n.2837_2840dup c.1296_1299dup n.2229_2232dup c.5168_5171dup (p.Asn1725ProfsTer23) c.5165_5168dup (p.Asn1724ProfsTer23) c.5057_5060dup (p.Asn1688ProfsTer23) c.5036_5039dup (p.Asn1681ProfsTer23) c.4382_4385dup (p.Asn1463ProfsTer23) c.5330_5333dup (p.Asn1779ProfsTer23) c.5078_5081dup (p.Asn1695ProfsTer23) c.3824_3827dup (p.Asn1277ProfsTer23) | ClinVar dbSNP |
16 | g.2088093A= | CA2202030494 | TSC2 | c.*3463A= (n.*3463A=) c.4961A= (p.Asp1654=) c.5111A= (p.Asp1704=) c.*5627A= (n.*5627A=) c.*7863A= (n.*7863A=) c.5114A= (p.Asp1705=) c.5045A= (p.Asp1682=) c.4913A= (p.Asp1638=) c.4946A= (p.Asp1649=) c.1337A= n.2996A= c.3768A= c.4985A= (p.Asp1662=) n.711A= c.4916A= (p.Asp1639=) c.4982A= (p.Asp1661=) c.4907A= (p.Asp1636=) n.2762A= c.5039A= (p.Asp1680=) c.4910A= (p.Asp1637=) c.5035A= n.3198A= c.5108A= (p.Asp1703=) n.3929A= n.2366A= n.2337A= n.2227A= c.4769A= (p.Asp1590=) c.*4281A= (n.*4281A=) c.4805A= (p.Asp1602=) n.2837A= c.1296A= n.2229A= c.5168A= (p.Asp1723=) c.5165A= (p.Asp1722=) c.5057A= (p.Asp1686=) c.5036A= (p.Asp1679=) c.4382A= (p.Asp1461=) c.5330A= (p.Asp1777=) c.5078A= (p.Asp1693=) c.3824A= (p.Asp1275=) | |
16 | g.2088093A>C | CA394312313 | TSC2 | c.*3463A>C (n.*3463A>C) c.4961A>C (p.Asp1654Ala) c.5111A>C (p.Asp1704Ala) c.*5627A>C (n.*5627A>C) c.*7863A>C (n.*7863A>C) c.5114A>C (p.Asp1705Ala) c.5045A>C (p.Asp1682Ala) c.4913A>C (p.Asp1638Ala) c.4946A>C (p.Asp1649Ala) c.1337A>C n.2996A>C c.3768A>C c.4985A>C (p.Asp1662Ala) n.711A>C c.4916A>C (p.Asp1639Ala) c.4982A>C (p.Asp1661Ala) c.4907A>C (p.Asp1636Ala) n.2762A>C c.5039A>C (p.Asp1680Ala) c.4910A>C (p.Asp1637Ala) c.5035A>C n.3198A>C c.5108A>C (p.Asp1703Ala) n.3929A>C n.2366A>C n.2337A>C n.2227A>C c.4769A>C (p.Asp1590Ala) c.*4281A>C (n.*4281A>C) c.4805A>C (p.Asp1602Ala) n.2837A>C c.1296A>C n.2229A>C c.5168A>C (p.Asp1723Ala) c.5165A>C (p.Asp1722Ala) c.5057A>C (p.Asp1686Ala) c.5036A>C (p.Asp1679Ala) c.4382A>C (p.Asp1461Ala) c.5330A>C (p.Asp1777Ala) c.5078A>C (p.Asp1693Ala) c.3824A>C (p.Asp1275Ala) | dbSNP |
16 | g.2088093A>G | CA394312318 | TSC2 | c.*3463A>G (n.*3463A>G) c.4961A>G (p.Asp1654Gly) c.5111A>G (p.Asp1704Gly) c.*5627A>G (n.*5627A>G) c.*7863A>G (n.*7863A>G) c.5114A>G (p.Asp1705Gly) c.5045A>G (p.Asp1682Gly) c.4913A>G (p.Asp1638Gly) c.4946A>G (p.Asp1649Gly) c.1337A>G n.2996A>G c.3768A>G c.4985A>G (p.Asp1662Gly) n.711A>G c.4916A>G (p.Asp1639Gly) c.4982A>G (p.Asp1661Gly) c.4907A>G (p.Asp1636Gly) n.2762A>G c.5039A>G (p.Asp1680Gly) c.4910A>G (p.Asp1637Gly) c.5035A>G n.3198A>G c.5108A>G (p.Asp1703Gly) n.3929A>G n.2366A>G n.2337A>G n.2227A>G c.4769A>G (p.Asp1590Gly) c.*4281A>G (n.*4281A>G) c.4805A>G (p.Asp1602Gly) n.2837A>G c.1296A>G n.2229A>G c.5168A>G (p.Asp1723Gly) c.5165A>G (p.Asp1722Gly) c.5057A>G (p.Asp1686Gly) c.5036A>G (p.Asp1679Gly) c.4382A>G (p.Asp1461Gly) c.5330A>G (p.Asp1777Gly) c.5078A>G (p.Asp1693Gly) c.3824A>G (p.Asp1275Gly) | dbSNP |
16 | g.2088093A>T | CA394312323 | TSC2 | c.*3463A>T (n.*3463A>T) c.4961A>T (p.Asp1654Val) c.5111A>T (p.Asp1704Val) c.*5627A>T (n.*5627A>T) c.*7863A>T (n.*7863A>T) c.5114A>T (p.Asp1705Val) c.5045A>T (p.Asp1682Val) c.4913A>T (p.Asp1638Val) c.4946A>T (p.Asp1649Val) c.1337A>T n.2996A>T c.3768A>T c.4985A>T (p.Asp1662Val) n.711A>T c.4916A>T (p.Asp1639Val) c.4982A>T (p.Asp1661Val) c.4907A>T (p.Asp1636Val) n.2762A>T c.5039A>T (p.Asp1680Val) c.4910A>T (p.Asp1637Val) c.5035A>T n.3198A>T c.5108A>T (p.Asp1703Val) n.3929A>T n.2366A>T n.2337A>T n.2227A>T c.4769A>T (p.Asp1590Val) c.*4281A>T (n.*4281A>T) c.4805A>T (p.Asp1602Val) n.2837A>T c.1296A>T n.2229A>T c.5168A>T (p.Asp1723Val) c.5165A>T (p.Asp1722Val) c.5057A>T (p.Asp1686Val) c.5036A>T (p.Asp1679Val) c.4382A>T (p.Asp1461Val) c.5330A>T (p.Asp1777Val) c.5078A>T (p.Asp1693Val) c.3824A>T (p.Asp1275Val) | |
16 | g.2088096_2088101del | CA2573151972 | TSC2 | c.*3466_*3471del (n.*3466_*3471del) c.4964_4969del (p.Arg1655_Asn1656del) c.5114_5119del (p.Arg1705_Asn1706del) c.*5630_*5635del (n.*5630_*5635del) c.*7866_*7871del (n.*7866_*7871del) c.5117_5122del (p.Arg1706_Asn1707del) c.5048_5053del (p.Arg1683_Asn1684del) c.4916_4921del (p.Arg1639_Asn1640del) c.4949_4954del (p.Arg1650_Asn1651del) c.1340_1345del n.2999_3004del c.3771_3776del c.4988_4993del (p.Arg1663_Asn1664del) n.714_719del c.4919_4924del (p.Arg1640_Asn1641del) c.4985_4990del (p.Arg1662_Asn1663del) c.4910_4915del (p.Arg1637_Asn1638del) n.2765_2770del c.5042_5047del (p.Arg1681_Asn1682del) c.4913_4918del (p.Arg1638_Asn1639del) c.5038_5043del n.3201_3206del c.5111_5116del (p.Arg1704_Asn1705del) n.3932_3937del n.2369_2374del n.2340_2345del n.2230_2235del c.4772_4777del (p.Arg1591_Asn1592del) c.*4284_*4289del (n.*4284_*4289del) c.4808_4813del (p.Arg1603_Asn1604del) n.2840_2845del c.1299_1304del n.2232_2237del c.5171_5176del (p.Arg1724_Asn1725del) c.5168_5173del (p.Arg1723_Asn1724del) c.5060_5065del (p.Arg1687_Asn1688del) c.5039_5044del (p.Arg1680_Asn1681del) c.4385_4390del (p.Arg1462_Asn1463del) c.5333_5338del (p.Arg1778_Asn1779del) c.5081_5086del (p.Arg1694_Asn1695del) c.3827_3832del (p.Arg1276_Asn1277del) | ClinVar dbSNP |
16 | g.2088094C>A | CA394312327 | TSC2 | c.*3464C>A (n.*3464C>A) c.4962C>A (p.Asp1654Glu) c.5112C>A (p.Asp1704Glu) c.*5628C>A (n.*5628C>A) c.*7864C>A (n.*7864C>A) c.5115C>A (p.Asp1705Glu) c.5046C>A (p.Asp1682Glu) c.4914C>A (p.Asp1638Glu) c.4947C>A (p.Asp1649Glu) c.1338C>A n.2997C>A c.3769C>A c.4986C>A (p.Asp1662Glu) n.712C>A c.4917C>A (p.Asp1639Glu) c.4983C>A (p.Asp1661Glu) c.4908C>A (p.Asp1636Glu) n.2763C>A c.5040C>A (p.Asp1680Glu) c.4911C>A (p.Asp1637Glu) c.5036C>A n.3199C>A c.5109C>A (p.Asp1703Glu) n.3930C>A n.2367C>A n.2338C>A n.2228C>A c.4770C>A (p.Asp1590Glu) c.*4282C>A (n.*4282C>A) c.4806C>A (p.Asp1602Glu) n.2838C>A c.1297C>A n.2230C>A c.5169C>A (p.Asp1723Glu) c.5166C>A (p.Asp1722Glu) c.5058C>A (p.Asp1686Glu) c.5037C>A (p.Asp1679Glu) c.4383C>A (p.Asp1461Glu) c.5331C>A (p.Asp1777Glu) c.5079C>A (p.Asp1693Glu) c.3825C>A (p.Asp1275Glu) | ClinVar dbSNP |
16 | g.2088094C= | CA2202030511 | TSC2 | c.*3464C= (n.*3464C=) c.4962C= (p.Asp1654=) c.5112C= (p.Asp1704=) c.*5628C= (n.*5628C=) c.*7864C= (n.*7864C=) c.5115C= (p.Asp1705=) c.5046C= (p.Asp1682=) c.4914C= (p.Asp1638=) c.4947C= (p.Asp1649=) c.1338C= n.2997C= c.3769C= c.4986C= (p.Asp1662=) n.712C= c.4917C= (p.Asp1639=) c.4983C= (p.Asp1661=) c.4908C= (p.Asp1636=) n.2763C= c.5040C= (p.Asp1680=) c.4911C= (p.Asp1637=) c.5036C= n.3199C= c.5109C= (p.Asp1703=) n.3930C= n.2367C= n.2338C= n.2228C= c.4770C= (p.Asp1590=) c.*4282C= (n.*4282C=) c.4806C= (p.Asp1602=) n.2838C= c.1297C= n.2230C= c.5169C= (p.Asp1723=) c.5166C= (p.Asp1722=) c.5058C= (p.Asp1686=) c.5037C= (p.Asp1679=) c.4383C= (p.Asp1461=) c.5331C= (p.Asp1777=) c.5079C= (p.Asp1693=) c.3825C= (p.Asp1275=) | |
16 | g.2088094C>G | CA394312331 | TSC2 | c.*3464C>G (n.*3464C>G) c.4962C>G (p.Asp1654Glu) c.5112C>G (p.Asp1704Glu) c.*5628C>G (n.*5628C>G) c.*7864C>G (n.*7864C>G) c.5115C>G (p.Asp1705Glu) c.5046C>G (p.Asp1682Glu) c.4914C>G (p.Asp1638Glu) c.4947C>G (p.Asp1649Glu) c.1338C>G n.2997C>G c.3769C>G c.4986C>G (p.Asp1662Glu) n.712C>G c.4917C>G (p.Asp1639Glu) c.4983C>G (p.Asp1661Glu) c.4908C>G (p.Asp1636Glu) n.2763C>G c.5040C>G (p.Asp1680Glu) c.4911C>G (p.Asp1637Glu) c.5036C>G n.3199C>G c.5109C>G (p.Asp1703Glu) n.3930C>G n.2367C>G n.2338C>G n.2228C>G c.4770C>G (p.Asp1590Glu) c.*4282C>G (n.*4282C>G) c.4806C>G (p.Asp1602Glu) n.2838C>G c.1297C>G n.2230C>G c.5169C>G (p.Asp1723Glu) c.5166C>G (p.Asp1722Glu) c.5058C>G (p.Asp1686Glu) c.5037C>G (p.Asp1679Glu) c.4383C>G (p.Asp1461Glu) c.5331C>G (p.Asp1777Glu) c.5079C>G (p.Asp1693Glu) c.3825C>G (p.Asp1275Glu) | ClinVar dbSNP |
16 | g.2088094C>T | CA493043652 | TSC2 | c.*3464C>T (n.*3464C>T) c.4962C>T (p.Asp1654=) c.5112C>T (p.Asp1704=) c.*5628C>T (n.*5628C>T) c.*7864C>T (n.*7864C>T) c.5115C>T (p.Asp1705=) c.5046C>T (p.Asp1682=) c.4914C>T (p.Asp1638=) c.4947C>T (p.Asp1649=) c.1338C>T n.2997C>T c.3769C>T c.4986C>T (p.Asp1662=) n.712C>T c.4917C>T (p.Asp1639=) c.4983C>T (p.Asp1661=) c.4908C>T (p.Asp1636=) n.2763C>T c.5040C>T (p.Asp1680=) c.4911C>T (p.Asp1637=) c.5036C>T n.3199C>T c.5109C>T (p.Asp1703=) n.3930C>T n.2367C>T n.2338C>T n.2228C>T c.4770C>T (p.Asp1590=) c.*4282C>T (n.*4282C>T) c.4806C>T (p.Asp1602=) n.2838C>T c.1297C>T n.2230C>T c.5169C>T (p.Asp1723=) c.5166C>T (p.Asp1722=) c.5058C>T (p.Asp1686=) c.5037C>T (p.Asp1679=) c.4383C>T (p.Asp1461=) c.5331C>T (p.Asp1777=) c.5079C>T (p.Asp1693=) c.3825C>T (p.Asp1275=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088095dup | CA021755 | TSC2 | c.*3465dup (n.*3465dup) c.4963dup (p.Arg1655ProfsTer23) c.5113dup (p.Arg1705ProfsTer23) c.*5629dup (n.*5629dup) c.*7865dup (n.*7865dup) c.5116dup (p.Arg1706ProfsTer23) c.5047dup (p.Arg1683ProfsTer23) c.4915dup (p.Arg1639ProfsTer23) c.4948dup (p.Arg1650ProfsTer23) c.1339dup n.2998dup c.3770dup c.4987dup (p.Arg1663ProfsTer19) n.713dup c.4918dup (p.Arg1640ProfsTer23) c.4984dup (p.Arg1662ProfsTer23) c.4909dup (p.Arg1637ProfsTer23) n.2764dup c.5041dup (p.Arg1681ProfsTer23) c.4987dup (p.Arg1663ProfsTer23) c.4915dup (p.Arg1639ProfsTer24) c.4912dup (p.Arg1638ProfsTer23) c.5037dup n.3200dup c.5110dup (p.Arg1704ProfsTer23) n.3931dup n.2368dup n.2339dup n.2229dup c.4771dup (p.Arg1591ProfsTer23) c.*4283dup (n.*4283dup) c.4807dup (p.Arg1603ProfsTer23) n.2839dup c.1298dup n.2231dup c.5170dup (p.Arg1724ProfsTer23) c.5167dup (p.Arg1723ProfsTer23) c.5059dup (p.Arg1687ProfsTer23) c.5038dup (p.Arg1680ProfsTer23) c.4384dup (p.Arg1462ProfsTer23) c.5332dup (p.Arg1778ProfsTer23) c.5080dup (p.Arg1694ProfsTer23) c.3826dup (p.Arg1276ProfsTer23) | ClinVar dbSNP |
16 | g.2088094_2088095dup | CA2580091153 | TSC2 | c.*3464_*3465dup (n.*3464_*3465dup) c.4962_4963dup (p.Arg1655ProfsTer?) c.5112_5113dup (p.Arg1705ProfsTer?) c.*5628_*5629dup (n.*5628_*5629dup) c.*7864_*7865dup (n.*7864_*7865dup) c.5115_5116dup (p.Arg1706ProfsTer?) c.5046_5047dup (p.Arg1683ProfsTer?) c.4914_4915dup (p.Arg1639ProfsTer?) c.4947_4948dup (p.Arg1650ProfsTer?) c.1338_1339dup n.2997_2998dup c.3769_3770dup c.4986_4987dup (p.Arg1663ProfsTer?) n.712_713dup c.4917_4918dup (p.Arg1640ProfsTer?) c.4983_4984dup (p.Arg1662ProfsTer?) c.4908_4909dup (p.Arg1637ProfsTer?) n.2763_2764dup c.5040_5041dup (p.Arg1681ProfsTer?) c.4914_4915dup (p.Arg1639ProfsTer17) c.4911_4912dup (p.Arg1638ProfsTer?) c.5036_5037dup n.3199_3200dup c.5109_5110dup (p.Arg1704ProfsTer?) n.3930_3931dup n.2367_2368dup n.2338_2339dup n.2228_2229dup c.4770_4771dup (p.Arg1591ProfsTer?) c.*4282_*4283dup (n.*4282_*4283dup) c.4806_4807dup (p.Arg1603ProfsTer?) n.2838_2839dup c.1297_1298dup n.2230_2231dup c.5169_5170dup (p.Arg1724ProfsTer?) c.5166_5167dup (p.Arg1723ProfsTer?) c.5058_5059dup (p.Arg1687ProfsTer?) c.5037_5038dup (p.Arg1680ProfsTer?) c.4383_4384dup (p.Arg1462ProfsTer?) c.5331_5332dup (p.Arg1778ProfsTer?) c.5079_5080dup (p.Arg1694ProfsTer?) c.3825_3826dup (p.Arg1276ProfsTer?) | ClinVar |
16 | g.2088095C>A | CA394312340 | TSC2 | c.*3465C>A (n.*3465C>A) c.4963C>A (p.Arg1655Ser) c.5113C>A (p.Arg1705Ser) c.*5629C>A (n.*5629C>A) c.*7865C>A (n.*7865C>A) c.5116C>A (p.Arg1706Ser) c.5047C>A (p.Arg1683Ser) c.4915C>A (p.Arg1639Ser) c.4948C>A (p.Arg1650Ser) c.1339C>A n.2998C>A c.3770C>A c.4987C>A (p.Arg1663Ser) n.713C>A c.4918C>A (p.Arg1640Ser) c.4984C>A (p.Arg1662Ser) c.4909C>A (p.Arg1637Ser) n.2764C>A c.5041C>A (p.Arg1681Ser) c.4912C>A (p.Arg1638Ser) c.5037C>A n.3200C>A c.5110C>A (p.Arg1704Ser) n.3931C>A n.2368C>A n.2339C>A n.2229C>A c.4771C>A (p.Arg1591Ser) c.*4283C>A (n.*4283C>A) c.4807C>A (p.Arg1603Ser) n.2839C>A c.1298C>A n.2231C>A c.5170C>A (p.Arg1724Ser) c.5167C>A (p.Arg1723Ser) c.5059C>A (p.Arg1687Ser) c.5038C>A (p.Arg1680Ser) c.4384C>A (p.Arg1462Ser) c.5332C>A (p.Arg1778Ser) c.5080C>A (p.Arg1694Ser) c.3826C>A (p.Arg1276Ser) | ClinVar dbSNP |
16 | g.2088095C= | CA2202030519 | TSC2 | c.*3465C= (n.*3465C=) c.4963C= (p.Arg1655=) c.5113C= (p.Arg1705=) c.*5629C= (n.*5629C=) c.*7865C= (n.*7865C=) c.5116C= (p.Arg1706=) c.5047C= (p.Arg1683=) c.4915C= (p.Arg1639=) c.4948C= (p.Arg1650=) c.1339C= n.2998C= c.3770C= c.4987C= (p.Arg1663=) n.713C= c.4918C= (p.Arg1640=) c.4984C= (p.Arg1662=) c.4909C= (p.Arg1637=) n.2764C= c.5041C= (p.Arg1681=) c.4912C= (p.Arg1638=) c.5037C= n.3200C= c.5110C= (p.Arg1704=) n.3931C= n.2368C= n.2339C= n.2229C= c.4771C= (p.Arg1591=) c.*4283C= (n.*4283C=) c.4807C= (p.Arg1603=) n.2839C= c.1298C= n.2231C= c.5170C= (p.Arg1724=) c.5167C= (p.Arg1723=) c.5059C= (p.Arg1687=) c.5038C= (p.Arg1680=) c.4384C= (p.Arg1462=) c.5332C= (p.Arg1778=) c.5080C= (p.Arg1694=) c.3826C= (p.Arg1276=) | |
16 | g.2088095C>G | CA394312344 | TSC2 | c.*3465C>G (n.*3465C>G) c.4963C>G (p.Arg1655Gly) c.5113C>G (p.Arg1705Gly) c.*5629C>G (n.*5629C>G) c.*7865C>G (n.*7865C>G) c.5116C>G (p.Arg1706Gly) c.5047C>G (p.Arg1683Gly) c.4915C>G (p.Arg1639Gly) c.4948C>G (p.Arg1650Gly) c.1339C>G n.2998C>G c.3770C>G c.4987C>G (p.Arg1663Gly) n.713C>G c.4918C>G (p.Arg1640Gly) c.4984C>G (p.Arg1662Gly) c.4909C>G (p.Arg1637Gly) n.2764C>G c.5041C>G (p.Arg1681Gly) c.4912C>G (p.Arg1638Gly) c.5037C>G n.3200C>G c.5110C>G (p.Arg1704Gly) n.3931C>G n.2368C>G n.2339C>G n.2229C>G c.4771C>G (p.Arg1591Gly) c.*4283C>G (n.*4283C>G) c.4807C>G (p.Arg1603Gly) n.2839C>G c.1298C>G n.2231C>G c.5170C>G (p.Arg1724Gly) c.5167C>G (p.Arg1723Gly) c.5059C>G (p.Arg1687Gly) c.5038C>G (p.Arg1680Gly) c.4384C>G (p.Arg1462Gly) c.5332C>G (p.Arg1778Gly) c.5080C>G (p.Arg1694Gly) c.3826C>G (p.Arg1276Gly) | ClinVar dbSNP |
16 | g.2088095C>T | CA021761 | TSC2 | c.*3465C>T (n.*3465C>T) c.4963C>T (p.Arg1655Cys) c.5113C>T (p.Arg1705Cys) c.*5629C>T (n.*5629C>T) c.*7865C>T (n.*7865C>T) c.5116C>T (p.Arg1706Cys) c.5047C>T (p.Arg1683Cys) c.4915C>T (p.Arg1639Cys) c.4948C>T (p.Arg1650Cys) c.1339C>T n.2998C>T c.3770C>T c.4987C>T (p.Arg1663Cys) n.713C>T c.4918C>T (p.Arg1640Cys) c.4984C>T (p.Arg1662Cys) c.4909C>T (p.Arg1637Cys) n.2764C>T c.5041C>T (p.Arg1681Cys) c.4912C>T (p.Arg1638Cys) c.5037C>T n.3200C>T c.5110C>T (p.Arg1704Cys) n.3931C>T n.2368C>T n.2339C>T n.2229C>T c.4771C>T (p.Arg1591Cys) c.*4283C>T (n.*4283C>T) c.4807C>T (p.Arg1603Cys) n.2839C>T c.1298C>T n.2231C>T c.5170C>T (p.Arg1724Cys) c.5167C>T (p.Arg1723Cys) c.5059C>T (p.Arg1687Cys) c.5038C>T (p.Arg1680Cys) c.4384C>T (p.Arg1462Cys) c.5332C>T (p.Arg1778Cys) c.5080C>T (p.Arg1694Cys) c.3826C>T (p.Arg1276Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088095_2088098dup | CA2695221744 | TSC2 | c.*3465_*3468dup (n.*3465_*3468dup) c.4963_4966dup (p.Asn1656ThrfsTer23) c.5113_5116dup (p.Asn1706ThrfsTer23) c.*5629_*5632dup (n.*5629_*5632dup) c.*7865_*7868dup (n.*7865_*7868dup) c.5116_5119dup (p.Asn1707ThrfsTer23) c.5047_5050dup (p.Asn1684ThrfsTer23) c.4915_4918dup (p.Asn1640ThrfsTer23) c.4948_4951dup (p.Asn1651ThrfsTer23) c.1339_1342dup n.2998_3001dup c.3770_3773dup c.4987_4990dup (p.Asn1664ThrfsTer19) n.713_716dup c.4918_4921dup (p.Asn1641ThrfsTer23) c.4984_4987dup (p.Asn1663ThrfsTer23) c.4909_4912dup (p.Asn1638ThrfsTer23) n.2764_2767dup c.5041_5044dup (p.Asn1682ThrfsTer23) c.4987_4990dup (p.Asn1664ThrfsTer23) c.4915_4918dup (p.Asn1640ThrfsTer24) c.4912_4915dup (p.Asn1639ThrfsTer23) c.5037_5040dup n.3200_3203dup c.5110_5113dup (p.Asn1705ThrfsTer23) n.3931_3934dup n.2368_2371dup n.2339_2342dup n.2229_2232dup c.4771_4774dup (p.Asn1592ThrfsTer23) c.*4283_*4286dup (n.*4283_*4286dup) c.4807_4810dup (p.Asn1604ThrfsTer23) n.2839_2842dup c.1298_1301dup n.2231_2234dup c.5170_5173dup (p.Asn1725ThrfsTer23) c.5167_5170dup (p.Asn1724ThrfsTer23) c.5059_5062dup (p.Asn1688ThrfsTer23) c.5038_5041dup (p.Asn1681ThrfsTer23) c.4384_4387dup (p.Asn1463ThrfsTer23) c.5332_5335dup (p.Asn1779ThrfsTer23) c.5080_5083dup (p.Asn1695ThrfsTer23) c.3826_3829dup (p.Asn1277ThrfsTer23) | |
16 | g.2088096G>A | CA021767 | TSC2 | c.*3466G>A (n.*3466G>A) c.4964G>A (p.Arg1655His) c.5114G>A (p.Arg1705His) c.*5630G>A (n.*5630G>A) c.*7866G>A (n.*7866G>A) c.5117G>A (p.Arg1706His) c.5048G>A (p.Arg1683His) c.4916G>A (p.Arg1639His) c.4949G>A (p.Arg1650His) c.1340G>A n.2999G>A c.3771G>A c.4988G>A (p.Arg1663His) n.714G>A c.4919G>A (p.Arg1640His) c.4985G>A (p.Arg1662His) c.4910G>A (p.Arg1637His) n.2765G>A c.5042G>A (p.Arg1681His) c.4913G>A (p.Arg1638His) c.5038G>A n.3201G>A c.5111G>A (p.Arg1704His) n.3932G>A n.2369G>A n.2340G>A n.2230G>A c.4772G>A (p.Arg1591His) c.*4284G>A (n.*4284G>A) c.4808G>A (p.Arg1603His) n.2840G>A c.1299G>A n.2232G>A c.5171G>A (p.Arg1724His) c.5168G>A (p.Arg1723His) c.5060G>A (p.Arg1687His) c.5039G>A (p.Arg1680His) c.4385G>A (p.Arg1462His) c.5333G>A (p.Arg1778His) c.5081G>A (p.Arg1694His) c.3827G>A (p.Arg1276His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088096G>C | CA394312354 | TSC2 | c.*3466G>C (n.*3466G>C) c.4964G>C (p.Arg1655Pro) c.5114G>C (p.Arg1705Pro) c.*5630G>C (n.*5630G>C) c.*7866G>C (n.*7866G>C) c.5117G>C (p.Arg1706Pro) c.5048G>C (p.Arg1683Pro) c.4916G>C (p.Arg1639Pro) c.4949G>C (p.Arg1650Pro) c.1340G>C n.2999G>C c.3771G>C c.4988G>C (p.Arg1663Pro) n.714G>C c.4919G>C (p.Arg1640Pro) c.4985G>C (p.Arg1662Pro) c.4910G>C (p.Arg1637Pro) n.2765G>C c.5042G>C (p.Arg1681Pro) c.4913G>C (p.Arg1638Pro) c.5038G>C n.3201G>C c.5111G>C (p.Arg1704Pro) n.3932G>C n.2369G>C n.2340G>C n.2230G>C c.4772G>C (p.Arg1591Pro) c.*4284G>C (n.*4284G>C) c.4808G>C (p.Arg1603Pro) n.2840G>C c.1299G>C n.2232G>C c.5171G>C (p.Arg1724Pro) c.5168G>C (p.Arg1723Pro) c.5060G>C (p.Arg1687Pro) c.5039G>C (p.Arg1680Pro) c.4385G>C (p.Arg1462Pro) c.5333G>C (p.Arg1778Pro) c.5081G>C (p.Arg1694Pro) c.3827G>C (p.Arg1276Pro) | dbSNP |
16 | g.2088096G= | CA2202030522 | TSC2 | c.*3466G= (n.*3466G=) c.4964G= (p.Arg1655=) c.5114G= (p.Arg1705=) c.*5630G= (n.*5630G=) c.*7866G= (n.*7866G=) c.5117G= (p.Arg1706=) c.5048G= (p.Arg1683=) c.4916G= (p.Arg1639=) c.4949G= (p.Arg1650=) c.1340G= n.2999G= c.3771G= c.4988G= (p.Arg1663=) n.714G= c.4919G= (p.Arg1640=) c.4985G= (p.Arg1662=) c.4910G= (p.Arg1637=) n.2765G= c.5042G= (p.Arg1681=) c.4913G= (p.Arg1638=) c.5038G= n.3201G= c.5111G= (p.Arg1704=) n.3932G= n.2369G= n.2340G= n.2230G= c.4772G= (p.Arg1591=) c.*4284G= (n.*4284G=) c.4808G= (p.Arg1603=) n.2840G= c.1299G= n.2232G= c.5171G= (p.Arg1724=) c.5168G= (p.Arg1723=) c.5060G= (p.Arg1687=) c.5039G= (p.Arg1680=) c.4385G= (p.Arg1462=) c.5333G= (p.Arg1778=) c.5081G= (p.Arg1694=) c.3827G= (p.Arg1276=) | |
16 | g.2088096G>T | CA394312358 | TSC2 | c.*3466G>T (n.*3466G>T) c.4964G>T (p.Arg1655Leu) c.5114G>T (p.Arg1705Leu) c.*5630G>T (n.*5630G>T) c.*7866G>T (n.*7866G>T) c.5117G>T (p.Arg1706Leu) c.5048G>T (p.Arg1683Leu) c.4916G>T (p.Arg1639Leu) c.4949G>T (p.Arg1650Leu) c.1340G>T n.2999G>T c.3771G>T c.4988G>T (p.Arg1663Leu) n.714G>T c.4919G>T (p.Arg1640Leu) c.4985G>T (p.Arg1662Leu) c.4910G>T (p.Arg1637Leu) n.2765G>T c.5042G>T (p.Arg1681Leu) c.4913G>T (p.Arg1638Leu) c.5038G>T n.3201G>T c.5111G>T (p.Arg1704Leu) n.3932G>T n.2369G>T n.2340G>T n.2230G>T c.4772G>T (p.Arg1591Leu) c.*4284G>T (n.*4284G>T) c.4808G>T (p.Arg1603Leu) n.2840G>T c.1299G>T n.2232G>T c.5171G>T (p.Arg1724Leu) c.5168G>T (p.Arg1723Leu) c.5060G>T (p.Arg1687Leu) c.5039G>T (p.Arg1680Leu) c.4385G>T (p.Arg1462Leu) c.5333G>T (p.Arg1778Leu) c.5081G>T (p.Arg1694Leu) c.3827G>T (p.Arg1276Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.2088096dup | CA913184882 | TSC2 | c.*3466dup (n.*3466dup) c.4964dup (p.Asn1656GlnfsTer22) c.5114dup (p.Asn1706GlnfsTer22) c.*5630dup (n.*5630dup) c.*7866dup (n.*7866dup) c.5117dup (p.Asn1707GlnfsTer22) c.5048dup (p.Asn1684GlnfsTer22) c.4916dup (p.Asn1640GlnfsTer22) c.4949dup (p.Asn1651GlnfsTer22) c.1340dup n.2999dup c.3771dup c.4988dup (p.Asn1664GlnfsTer18) n.714dup c.4919dup (p.Asn1641GlnfsTer22) c.4985dup (p.Asn1663GlnfsTer22) c.4910dup (p.Asn1638GlnfsTer22) n.2765dup c.5042dup (p.Asn1682GlnfsTer22) c.4988dup (p.Asn1664GlnfsTer22) c.4916dup (p.Asn1640GlnfsTer23) c.4913dup (p.Asn1639GlnfsTer22) c.5038dup n.3201dup c.5111dup (p.Asn1705GlnfsTer22) n.3932dup n.2369dup n.2340dup n.2230dup c.4772dup (p.Asn1592GlnfsTer22) c.*4284dup (n.*4284dup) c.4808dup (p.Asn1604GlnfsTer22) n.2840dup c.1299dup n.2232dup c.5171dup (p.Asn1725GlnfsTer22) c.5168dup (p.Asn1724GlnfsTer22) c.5060dup (p.Asn1688GlnfsTer22) c.5039dup (p.Asn1681GlnfsTer22) c.4385dup (p.Asn1463GlnfsTer22) c.5333dup (p.Asn1779GlnfsTer22) c.5081dup (p.Asn1695GlnfsTer22) c.3827dup (p.Asn1277GlnfsTer22) | |
16 | g.2088097C>A | CA493043653 | TSC2 | c.*3467C>A (n.*3467C>A) c.4965C>A (p.Arg1655=) c.5115C>A (p.Arg1705=) c.*5631C>A (n.*5631C>A) c.*7867C>A (n.*7867C>A) c.5118C>A (p.Arg1706=) c.5049C>A (p.Arg1683=) c.4917C>A (p.Arg1639=) c.4950C>A (p.Arg1650=) c.1341C>A n.3000C>A c.3772C>A c.4989C>A (p.Arg1663=) n.715C>A c.4920C>A (p.Arg1640=) c.4986C>A (p.Arg1662=) c.4911C>A (p.Arg1637=) n.2766C>A c.5043C>A (p.Arg1681=) c.4914C>A (p.Arg1638=) c.5039C>A n.3202C>A c.5112C>A (p.Arg1704=) n.3933C>A n.2370C>A n.2341C>A n.2231C>A c.4773C>A (p.Arg1591=) c.*4285C>A (n.*4285C>A) c.4809C>A (p.Arg1603=) n.2841C>A c.1300C>A n.2233C>A c.5172C>A (p.Arg1724=) c.5169C>A (p.Arg1723=) c.5061C>A (p.Arg1687=) c.5040C>A (p.Arg1680=) c.4386C>A (p.Arg1462=) c.5334C>A (p.Arg1778=) c.5082C>A (p.Arg1694=) c.3828C>A (p.Arg1276=) | |
16 | g.2088097C= | CA2202030527 | TSC2 | c.*3467C= (n.*3467C=) c.4965C= (p.Arg1655=) c.5115C= (p.Arg1705=) c.*5631C= (n.*5631C=) c.*7867C= (n.*7867C=) c.5118C= (p.Arg1706=) c.5049C= (p.Arg1683=) c.4917C= (p.Arg1639=) c.4950C= (p.Arg1650=) c.1341C= n.3000C= c.3772C= c.4989C= (p.Arg1663=) n.715C= c.4920C= (p.Arg1640=) c.4986C= (p.Arg1662=) c.4911C= (p.Arg1637=) n.2766C= c.5043C= (p.Arg1681=) c.4914C= (p.Arg1638=) c.5039C= n.3202C= c.5112C= (p.Arg1704=) n.3933C= n.2370C= n.2341C= n.2231C= c.4773C= (p.Arg1591=) c.*4285C= (n.*4285C=) c.4809C= (p.Arg1603=) n.2841C= c.1300C= n.2233C= c.5172C= (p.Arg1724=) c.5169C= (p.Arg1723=) c.5061C= (p.Arg1687=) c.5040C= (p.Arg1680=) c.4386C= (p.Arg1462=) c.5334C= (p.Arg1778=) c.5082C= (p.Arg1694=) c.3828C= (p.Arg1276=) | |
16 | g.2088097C>G | CA493043656 | TSC2 | c.*3467C>G (n.*3467C>G) c.4965C>G (p.Arg1655=) c.5115C>G (p.Arg1705=) c.*5631C>G (n.*5631C>G) c.*7867C>G (n.*7867C>G) c.5118C>G (p.Arg1706=) c.5049C>G (p.Arg1683=) c.4917C>G (p.Arg1639=) c.4950C>G (p.Arg1650=) c.1341C>G n.3000C>G c.3772C>G c.4989C>G (p.Arg1663=) n.715C>G c.4920C>G (p.Arg1640=) c.4986C>G (p.Arg1662=) c.4911C>G (p.Arg1637=) n.2766C>G c.5043C>G (p.Arg1681=) c.4914C>G (p.Arg1638=) c.5039C>G n.3202C>G c.5112C>G (p.Arg1704=) n.3933C>G n.2370C>G n.2341C>G n.2231C>G c.4773C>G (p.Arg1591=) c.*4285C>G (n.*4285C>G) c.4809C>G (p.Arg1603=) n.2841C>G c.1300C>G n.2233C>G c.5172C>G (p.Arg1724=) c.5169C>G (p.Arg1723=) c.5061C>G (p.Arg1687=) c.5040C>G (p.Arg1680=) c.4386C>G (p.Arg1462=) c.5334C>G (p.Arg1778=) c.5082C>G (p.Arg1694=) c.3828C>G (p.Arg1276=) | ClinVar dbSNP |
16 | g.2088097C>T | CA021772 | TSC2 | c.*3467C>T (n.*3467C>T) c.4965C>T (p.Arg1655=) c.5115C>T (p.Arg1705=) c.*5631C>T (n.*5631C>T) c.*7867C>T (n.*7867C>T) c.5118C>T (p.Arg1706=) c.5049C>T (p.Arg1683=) c.4917C>T (p.Arg1639=) c.4950C>T (p.Arg1650=) c.1341C>T n.3000C>T c.3772C>T c.4989C>T (p.Arg1663=) n.715C>T c.4920C>T (p.Arg1640=) c.4986C>T (p.Arg1662=) c.4911C>T (p.Arg1637=) n.2766C>T c.5043C>T (p.Arg1681=) c.4914C>T (p.Arg1638=) c.5039C>T n.3202C>T c.5112C>T (p.Arg1704=) n.3933C>T n.2370C>T n.2341C>T n.2231C>T c.4773C>T (p.Arg1591=) c.*4285C>T (n.*4285C>T) c.4809C>T (p.Arg1603=) n.2841C>T c.1300C>T n.2233C>T c.5172C>T (p.Arg1724=) c.5169C>T (p.Arg1723=) c.5061C>T (p.Arg1687=) c.5040C>T (p.Arg1680=) c.4386C>T (p.Arg1462=) c.5334C>T (p.Arg1778=) c.5082C>T (p.Arg1694=) c.3828C>T (p.Arg1276=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088098A= | CA2202030533 | TSC2 | c.*3468A= (n.*3468A=) c.4966A= (p.Asn1656=) c.5116A= (p.Asn1706=) c.*5632A= (n.*5632A=) c.*7868A= (n.*7868A=) c.5119A= (p.Asn1707=) c.5050A= (p.Asn1684=) c.4918A= (p.Asn1640=) c.4951A= (p.Asn1651=) c.1342A= n.3001A= c.3773A= c.4990A= (p.Asn1664=) n.716A= c.4921A= (p.Asn1641=) c.4987A= (p.Asn1663=) c.4912A= (p.Asn1638=) n.2767A= c.5044A= (p.Asn1682=) c.4915A= (p.Asn1639=) c.5040A= n.3203A= c.5113A= (p.Asn1705=) n.3934A= n.2371A= n.2342A= n.2232A= c.4774A= (p.Asn1592=) c.*4286A= (n.*4286A=) c.4810A= (p.Asn1604=) n.2842A= c.1301A= n.2234A= c.5173A= (p.Asn1725=) c.5170A= (p.Asn1724=) c.5062A= (p.Asn1688=) c.5041A= (p.Asn1681=) c.4387A= (p.Asn1463=) c.5335A= (p.Asn1779=) c.5083A= (p.Asn1695=) c.3829A= (p.Asn1277=) | |
16 | g.2088098A>C | CA394312361 | TSC2 | c.*3468A>C (n.*3468A>C) c.4966A>C (p.Asn1656His) c.5116A>C (p.Asn1706His) c.*5632A>C (n.*5632A>C) c.*7868A>C (n.*7868A>C) c.5119A>C (p.Asn1707His) c.5050A>C (p.Asn1684His) c.4918A>C (p.Asn1640His) c.4951A>C (p.Asn1651His) c.1342A>C n.3001A>C c.3773A>C c.4990A>C (p.Asn1664His) n.716A>C c.4921A>C (p.Asn1641His) c.4987A>C (p.Asn1663His) c.4912A>C (p.Asn1638His) n.2767A>C c.5044A>C (p.Asn1682His) c.4915A>C (p.Asn1639His) c.5040A>C n.3203A>C c.5113A>C (p.Asn1705His) n.3934A>C n.2371A>C n.2342A>C n.2232A>C c.4774A>C (p.Asn1592His) c.*4286A>C (n.*4286A>C) c.4810A>C (p.Asn1604His) n.2842A>C c.1301A>C n.2234A>C c.5173A>C (p.Asn1725His) c.5170A>C (p.Asn1724His) c.5062A>C (p.Asn1688His) c.5041A>C (p.Asn1681His) c.4387A>C (p.Asn1463His) c.5335A>C (p.Asn1779His) c.5083A>C (p.Asn1695His) c.3829A>C (p.Asn1277His) | ClinVar dbSNP gnomAD v4 |
16 | g.2088098A>G | CA394312363 | TSC2 | c.*3468A>G (n.*3468A>G) c.4966A>G (p.Asn1656Asp) c.5116A>G (p.Asn1706Asp) c.*5632A>G (n.*5632A>G) c.*7868A>G (n.*7868A>G) c.5119A>G (p.Asn1707Asp) c.5050A>G (p.Asn1684Asp) c.4918A>G (p.Asn1640Asp) c.4951A>G (p.Asn1651Asp) c.1342A>G n.3001A>G c.3773A>G c.4990A>G (p.Asn1664Asp) n.716A>G c.4921A>G (p.Asn1641Asp) c.4987A>G (p.Asn1663Asp) c.4912A>G (p.Asn1638Asp) n.2767A>G c.5044A>G (p.Asn1682Asp) c.4915A>G (p.Asn1639Asp) c.5040A>G n.3203A>G c.5113A>G (p.Asn1705Asp) n.3934A>G n.2371A>G n.2342A>G n.2232A>G c.4774A>G (p.Asn1592Asp) c.*4286A>G (n.*4286A>G) c.4810A>G (p.Asn1604Asp) n.2842A>G c.1301A>G n.2234A>G c.5173A>G (p.Asn1725Asp) c.5170A>G (p.Asn1724Asp) c.5062A>G (p.Asn1688Asp) c.5041A>G (p.Asn1681Asp) c.4387A>G (p.Asn1463Asp) c.5335A>G (p.Asn1779Asp) c.5083A>G (p.Asn1695Asp) c.3829A>G (p.Asn1277Asp) | gnomAD v4 |
16 | g.2088098A>T | CA394312366 | TSC2 | c.*3468A>T (n.*3468A>T) c.4966A>T (p.Asn1656Tyr) c.5116A>T (p.Asn1706Tyr) c.*5632A>T (n.*5632A>T) c.*7868A>T (n.*7868A>T) c.5119A>T (p.Asn1707Tyr) c.5050A>T (p.Asn1684Tyr) c.4918A>T (p.Asn1640Tyr) c.4951A>T (p.Asn1651Tyr) c.1342A>T n.3001A>T c.3773A>T c.4990A>T (p.Asn1664Tyr) n.716A>T c.4921A>T (p.Asn1641Tyr) c.4987A>T (p.Asn1663Tyr) c.4912A>T (p.Asn1638Tyr) n.2767A>T c.5044A>T (p.Asn1682Tyr) c.4915A>T (p.Asn1639Tyr) c.5040A>T n.3203A>T c.5113A>T (p.Asn1705Tyr) n.3934A>T n.2371A>T n.2342A>T n.2232A>T c.4774A>T (p.Asn1592Tyr) c.*4286A>T (n.*4286A>T) c.4810A>T (p.Asn1604Tyr) n.2842A>T c.1301A>T n.2234A>T c.5173A>T (p.Asn1725Tyr) c.5170A>T (p.Asn1724Tyr) c.5062A>T (p.Asn1688Tyr) c.5041A>T (p.Asn1681Tyr) c.4387A>T (p.Asn1463Tyr) c.5335A>T (p.Asn1779Tyr) c.5083A>T (p.Asn1695Tyr) c.3829A>T (p.Asn1277Tyr) | |
16 | g.2088099dup | CA2580091154 | TSC2 | c.*3469dup (n.*3469dup) c.4967dup (p.Asn1656LysfsTer22) c.5117dup (p.Asn1706LysfsTer22) c.*5633dup (n.*5633dup) c.*7869dup (n.*7869dup) c.5120dup (p.Asn1707LysfsTer22) c.5051dup (p.Asn1684LysfsTer22) c.4919dup (p.Asn1640LysfsTer22) c.4952dup (p.Asn1651LysfsTer22) c.1343dup n.3002dup c.3774dup c.4991dup (p.Asn1664LysfsTer18) n.717dup c.4922dup (p.Asn1641LysfsTer22) c.4988dup (p.Asn1663LysfsTer22) c.4913dup (p.Asn1638LysfsTer22) n.2768dup c.5045dup (p.Asn1682LysfsTer22) c.4991dup (p.Asn1664LysfsTer22) c.4919dup (p.Asn1640LysfsTer23) c.4916dup (p.Asn1639LysfsTer22) c.5041dup n.3204dup c.5114dup (p.Asn1705LysfsTer22) n.3935dup n.2372dup n.2343dup n.2233dup c.4775dup (p.Asn1592LysfsTer22) c.*4287dup (n.*4287dup) c.4811dup (p.Asn1604LysfsTer22) n.2843dup c.1302dup n.2235dup c.5174dup (p.Asn1725LysfsTer22) c.5171dup (p.Asn1724LysfsTer22) c.5063dup (p.Asn1688LysfsTer22) c.5042dup (p.Asn1681LysfsTer22) c.4388dup (p.Asn1463LysfsTer22) c.5336dup (p.Asn1779LysfsTer22) c.5084dup (p.Asn1695LysfsTer22) c.3830dup (p.Asn1277LysfsTer22) | ClinVar |
16 | g.2088099A= | CA2202030537 | TSC2 | c.*3469A= (n.*3469A=) c.4967A= (p.Asn1656=) c.5117A= (p.Asn1706=) c.*5633A= (n.*5633A=) c.*7869A= (n.*7869A=) c.5120A= (p.Asn1707=) c.5051A= (p.Asn1684=) c.4919A= (p.Asn1640=) c.4952A= (p.Asn1651=) c.1343A= n.3002A= c.3774A= c.4991A= (p.Asn1664=) n.717A= c.4922A= (p.Asn1641=) c.4988A= (p.Asn1663=) c.4913A= (p.Asn1638=) n.2768A= c.5045A= (p.Asn1682=) c.4916A= (p.Asn1639=) c.5041A= n.3204A= c.5114A= (p.Asn1705=) n.3935A= n.2372A= n.2343A= n.2233A= c.4775A= (p.Asn1592=) c.*4287A= (n.*4287A=) c.4811A= (p.Asn1604=) n.2843A= c.1302A= n.2235A= c.5174A= (p.Asn1725=) c.5171A= (p.Asn1724=) c.5063A= (p.Asn1688=) c.5042A= (p.Asn1681=) c.4388A= (p.Asn1463=) c.5336A= (p.Asn1779=) c.5084A= (p.Asn1695=) c.3830A= (p.Asn1277=) | |
16 | g.2088099A>C | CA394312371 | TSC2 | c.*3469A>C (n.*3469A>C) c.4967A>C (p.Asn1656Thr) c.5117A>C (p.Asn1706Thr) c.*5633A>C (n.*5633A>C) c.*7869A>C (n.*7869A>C) c.5120A>C (p.Asn1707Thr) c.5051A>C (p.Asn1684Thr) c.4919A>C (p.Asn1640Thr) c.4952A>C (p.Asn1651Thr) c.1343A>C n.3002A>C c.3774A>C c.4991A>C (p.Asn1664Thr) n.717A>C c.4922A>C (p.Asn1641Thr) c.4988A>C (p.Asn1663Thr) c.4913A>C (p.Asn1638Thr) n.2768A>C c.5045A>C (p.Asn1682Thr) c.4916A>C (p.Asn1639Thr) c.5041A>C n.3204A>C c.5114A>C (p.Asn1705Thr) n.3935A>C n.2372A>C n.2343A>C n.2233A>C c.4775A>C (p.Asn1592Thr) c.*4287A>C (n.*4287A>C) c.4811A>C (p.Asn1604Thr) n.2843A>C c.1302A>C n.2235A>C c.5174A>C (p.Asn1725Thr) c.5171A>C (p.Asn1724Thr) c.5063A>C (p.Asn1688Thr) c.5042A>C (p.Asn1681Thr) c.4388A>C (p.Asn1463Thr) c.5336A>C (p.Asn1779Thr) c.5084A>C (p.Asn1695Thr) c.3830A>C (p.Asn1277Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088099A>G | CA054000 | TSC2 | c.*3469A>G (n.*3469A>G) c.4967A>G (p.Asn1656Ser) c.5117A>G (p.Asn1706Ser) c.*5633A>G (n.*5633A>G) c.*7869A>G (n.*7869A>G) c.5120A>G (p.Asn1707Ser) c.5051A>G (p.Asn1684Ser) c.4919A>G (p.Asn1640Ser) c.4952A>G (p.Asn1651Ser) c.1343A>G n.3002A>G c.3774A>G c.4991A>G (p.Asn1664Ser) n.717A>G c.4922A>G (p.Asn1641Ser) c.4988A>G (p.Asn1663Ser) c.4913A>G (p.Asn1638Ser) n.2768A>G c.5045A>G (p.Asn1682Ser) c.4916A>G (p.Asn1639Ser) c.5041A>G n.3204A>G c.5114A>G (p.Asn1705Ser) n.3935A>G n.2372A>G n.2343A>G n.2233A>G c.4775A>G (p.Asn1592Ser) c.*4287A>G (n.*4287A>G) c.4811A>G (p.Asn1604Ser) n.2843A>G c.1302A>G n.2235A>G c.5174A>G (p.Asn1725Ser) c.5171A>G (p.Asn1724Ser) c.5063A>G (p.Asn1688Ser) c.5042A>G (p.Asn1681Ser) c.4388A>G (p.Asn1463Ser) c.5336A>G (p.Asn1779Ser) c.5084A>G (p.Asn1695Ser) c.3830A>G (p.Asn1277Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088099A>T | CA394312377 | TSC2 | c.*3469A>T (n.*3469A>T) c.4967A>T (p.Asn1656Ile) c.5117A>T (p.Asn1706Ile) c.*5633A>T (n.*5633A>T) c.*7869A>T (n.*7869A>T) c.5120A>T (p.Asn1707Ile) c.5051A>T (p.Asn1684Ile) c.4919A>T (p.Asn1640Ile) c.4952A>T (p.Asn1651Ile) c.1343A>T n.3002A>T c.3774A>T c.4991A>T (p.Asn1664Ile) n.717A>T c.4922A>T (p.Asn1641Ile) c.4988A>T (p.Asn1663Ile) c.4913A>T (p.Asn1638Ile) n.2768A>T c.5045A>T (p.Asn1682Ile) c.4916A>T (p.Asn1639Ile) c.5041A>T n.3204A>T c.5114A>T (p.Asn1705Ile) n.3935A>T n.2372A>T n.2343A>T n.2233A>T c.4775A>T (p.Asn1592Ile) c.*4287A>T (n.*4287A>T) c.4811A>T (p.Asn1604Ile) n.2843A>T c.1302A>T n.2235A>T c.5174A>T (p.Asn1725Ile) c.5171A>T (p.Asn1724Ile) c.5063A>T (p.Asn1688Ile) c.5042A>T (p.Asn1681Ile) c.4388A>T (p.Asn1463Ile) c.5336A>T (p.Asn1779Ile) c.5084A>T (p.Asn1695Ile) c.3830A>T (p.Asn1277Ile) | dbSNP |
16 | g.2088099_2088100delinsAC | CA2202030540 | TSC2 | c.*3469_*3470delinsAC (n.*3469_*3470delinsAC) c.4967_4968delinsAC (p.Asn1656=) c.5117_5118delinsAC (p.Asn1706=) c.*5633_*5634delinsAC (n.*5633_*5634delinsAC) c.*7869_*7870delinsAC (n.*7869_*7870delinsAC) c.5120_5121delinsAC (p.Asn1707=) c.5051_5052delinsAC (p.Asn1684=) c.4919_4920delinsAC (p.Asn1640=) c.4952_4953delinsAC (p.Asn1651=) c.1343_1344delinsAC n.3002_3003delinsAC c.3774_3775delinsAC c.4991_4992delinsAC (p.Asn1664=) n.717_718delinsAC c.4922_4923delinsAC (p.Asn1641=) c.4988_4989delinsAC (p.Asn1663=) c.4913_4914delinsAC (p.Asn1638=) n.2768_2769delinsAC c.5045_5046delinsAC (p.Asn1682=) c.4916_4917delinsAC (p.Asn1639=) c.5041_5042delinsAC n.3204_3205delinsAC c.5114_5115delinsAC (p.Asn1705=) n.3935_3936delinsAC n.2372_2373delinsAC n.2343_2344delinsAC n.2233_2234delinsAC c.4775_4776delinsAC (p.Asn1592=) c.*4287_*4288delinsAC (n.*4287_*4288delinsAC) c.4811_4812delinsAC (p.Asn1604=) n.2843_2844delinsAC c.1302_1303delinsAC n.2235_2236delinsAC c.5174_5175delinsAC (p.Asn1725=) c.5171_5172delinsAC (p.Asn1724=) c.5063_5064delinsAC (p.Asn1688=) c.5042_5043delinsAC (p.Asn1681=) c.4388_4389delinsAC (p.Asn1463=) c.5336_5337delinsAC (p.Asn1779=) c.5084_5085delinsAC (p.Asn1695=) c.3830_3831delinsAC (p.Asn1277=) | |
16 | g.2088100C>A | CA394312381 | TSC2 | c.*3470C>A (n.*3470C>A) c.4968C>A (p.Asn1656Lys) c.5118C>A (p.Asn1706Lys) c.*5634C>A (n.*5634C>A) c.*7870C>A (n.*7870C>A) c.5121C>A (p.Asn1707Lys) c.5052C>A (p.Asn1684Lys) c.4920C>A (p.Asn1640Lys) c.4953C>A (p.Asn1651Lys) c.1344C>A n.3003C>A c.3775C>A c.4992C>A (p.Asn1664Lys) n.718C>A c.4923C>A (p.Asn1641Lys) c.4989C>A (p.Asn1663Lys) c.4914C>A (p.Asn1638Lys) n.2769C>A c.5046C>A (p.Asn1682Lys) c.4917C>A (p.Asn1639Lys) c.5042C>A n.3205C>A c.5115C>A (p.Asn1705Lys) n.3936C>A n.2373C>A n.2344C>A n.2234C>A c.4776C>A (p.Asn1592Lys) c.*4288C>A (n.*4288C>A) c.4812C>A (p.Asn1604Lys) n.2844C>A c.1303C>A n.2236C>A c.5175C>A (p.Asn1725Lys) c.5172C>A (p.Asn1724Lys) c.5064C>A (p.Asn1688Lys) c.5043C>A (p.Asn1681Lys) c.4389C>A (p.Asn1463Lys) c.5337C>A (p.Asn1779Lys) c.5085C>A (p.Asn1695Lys) c.3831C>A (p.Asn1277Lys) | ClinVar dbSNP |
16 | g.2088100C>G | CA394312386 | TSC2 | c.*3470C>G (n.*3470C>G) c.4968C>G (p.Asn1656Lys) c.5118C>G (p.Asn1706Lys) c.*5634C>G (n.*5634C>G) c.*7870C>G (n.*7870C>G) c.5121C>G (p.Asn1707Lys) c.5052C>G (p.Asn1684Lys) c.4920C>G (p.Asn1640Lys) c.4953C>G (p.Asn1651Lys) c.1344C>G n.3003C>G c.3775C>G c.4992C>G (p.Asn1664Lys) n.718C>G c.4923C>G (p.Asn1641Lys) c.4989C>G (p.Asn1663Lys) c.4914C>G (p.Asn1638Lys) n.2769C>G c.5046C>G (p.Asn1682Lys) c.4917C>G (p.Asn1639Lys) c.5042C>G n.3205C>G c.5115C>G (p.Asn1705Lys) n.3936C>G n.2373C>G n.2344C>G n.2234C>G c.4776C>G (p.Asn1592Lys) c.*4288C>G (n.*4288C>G) c.4812C>G (p.Asn1604Lys) n.2844C>G c.1303C>G n.2236C>G c.5175C>G (p.Asn1725Lys) c.5172C>G (p.Asn1724Lys) c.5064C>G (p.Asn1688Lys) c.5043C>G (p.Asn1681Lys) c.4389C>G (p.Asn1463Lys) c.5337C>G (p.Asn1779Lys) c.5085C>G (p.Asn1695Lys) c.3831C>G (p.Asn1277Lys) | ClinVar dbSNP gnomAD v4 |
16 | g.2088100C>T | CA493043660 | TSC2 | c.*3470C>T (n.*3470C>T) c.4968C>T (p.Asn1656=) c.5118C>T (p.Asn1706=) c.*5634C>T (n.*5634C>T) c.*7870C>T (n.*7870C>T) c.5121C>T (p.Asn1707=) c.5052C>T (p.Asn1684=) c.4920C>T (p.Asn1640=) c.4953C>T (p.Asn1651=) c.1344C>T n.3003C>T c.3775C>T c.4992C>T (p.Asn1664=) n.718C>T c.4923C>T (p.Asn1641=) c.4989C>T (p.Asn1663=) c.4914C>T (p.Asn1638=) n.2769C>T c.5046C>T (p.Asn1682=) c.4917C>T (p.Asn1639=) c.5042C>T n.3205C>T c.5115C>T (p.Asn1705=) n.3936C>T n.2373C>T n.2344C>T n.2234C>T c.4776C>T (p.Asn1592=) c.*4288C>T (n.*4288C>T) c.4812C>T (p.Asn1604=) n.2844C>T c.1303C>T n.2236C>T c.5175C>T (p.Asn1725=) c.5172C>T (p.Asn1724=) c.5064C>T (p.Asn1688=) c.5043C>T (p.Asn1681=) c.4389C>T (p.Asn1463=) c.5337C>T (p.Asn1779=) c.5085C>T (p.Asn1695=) c.3831C>T (p.Asn1277=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088101del | CA021776 | TSC2 | c.*3471del (n.*3471del) c.4969del (p.Leu1657CysfsTer?) c.5119del (p.Leu1707CysfsTer?) c.*5635del (n.*5635del) c.*7871del (n.*7871del) c.5122del (p.Leu1708CysfsTer?) c.5053del (p.Leu1685CysfsTer?) c.4921del (p.Leu1641CysfsTer?) c.4954del (p.Leu1652CysfsTer?) c.1345del n.3004del c.3776del c.4993del (p.Leu1665CysfsTer?) n.719del c.4924del (p.Leu1642CysfsTer?) c.4990del (p.Leu1664CysfsTer?) c.4915del (p.Leu1639CysfsTer?) n.2770del c.5047del (p.Leu1683CysfsTer?) c.4921del (p.Leu1641CysfsTer14) c.4918del (p.Leu1640CysfsTer?) c.5043del n.3206del c.5116del (p.Leu1706CysfsTer?) n.3937del n.2374del n.2345del n.2235del c.4777del (p.Leu1593CysfsTer?) c.*4289del (n.*4289del) c.4813del (p.Leu1605CysfsTer?) n.2845del c.1304del n.2237del c.5176del (p.Leu1726CysfsTer?) c.5173del (p.Leu1725CysfsTer?) c.5065del (p.Leu1689CysfsTer?) c.5044del (p.Leu1682CysfsTer?) c.4390del (p.Leu1464CysfsTer?) c.5338del (p.Leu1780CysfsTer?) c.5086del (p.Leu1696CysfsTer?) c.3832del (p.Leu1278CysfsTer?) | ClinVar dbSNP |
16 | g.2088101C>A | CA394312394 | TSC2 | c.*3471C>A (n.*3471C>A) c.4969C>A (p.Leu1657Met) c.5119C>A (p.Leu1707Met) c.*5635C>A (n.*5635C>A) c.*7871C>A (n.*7871C>A) c.5122C>A (p.Leu1708Met) c.5053C>A (p.Leu1685Met) c.4921C>A (p.Leu1641Met) c.4954C>A (p.Leu1652Met) c.1345C>A n.3004C>A c.3776C>A c.4993C>A (p.Leu1665Met) n.719C>A c.4924C>A (p.Leu1642Met) c.4990C>A (p.Leu1664Met) c.4915C>A (p.Leu1639Met) n.2770C>A c.5047C>A (p.Leu1683Met) c.4918C>A (p.Leu1640Met) c.5043C>A n.3206C>A c.5116C>A (p.Leu1706Met) n.3937C>A n.2374C>A n.2345C>A n.2235C>A c.4777C>A (p.Leu1593Met) c.*4289C>A (n.*4289C>A) c.4813C>A (p.Leu1605Met) n.2845C>A c.1304C>A n.2237C>A c.5176C>A (p.Leu1726Met) c.5173C>A (p.Leu1725Met) c.5065C>A (p.Leu1689Met) c.5044C>A (p.Leu1682Met) c.4390C>A (p.Leu1464Met) c.5338C>A (p.Leu1780Met) c.5086C>A (p.Leu1696Met) c.3832C>A (p.Leu1278Met) | dbSNP |
16 | g.2088101C= | CA2202030550 | TSC2 | c.*3471C= (n.*3471C=) c.4969C= (p.Leu1657=) c.5119C= (p.Leu1707=) c.*5635C= (n.*5635C=) c.*7871C= (n.*7871C=) c.5122C= (p.Leu1708=) c.5053C= (p.Leu1685=) c.4921C= (p.Leu1641=) c.4954C= (p.Leu1652=) c.1345C= n.3004C= c.3776C= c.4993C= (p.Leu1665=) n.719C= c.4924C= (p.Leu1642=) c.4990C= (p.Leu1664=) c.4915C= (p.Leu1639=) n.2770C= c.5047C= (p.Leu1683=) c.4918C= (p.Leu1640=) c.5043C= n.3206C= c.5116C= (p.Leu1706=) n.3937C= n.2374C= n.2345C= n.2235C= c.4777C= (p.Leu1593=) c.*4289C= (n.*4289C=) c.4813C= (p.Leu1605=) n.2845C= c.1304C= n.2237C= c.5176C= (p.Leu1726=) c.5173C= (p.Leu1725=) c.5065C= (p.Leu1689=) c.5044C= (p.Leu1682=) c.4390C= (p.Leu1464=) c.5338C= (p.Leu1780=) c.5086C= (p.Leu1696=) c.3832C= (p.Leu1278=) | |
16 | g.2088101C>G | CA394312391 | TSC2 | c.*3471C>G (n.*3471C>G) c.4969C>G (p.Leu1657Val) c.5119C>G (p.Leu1707Val) c.*5635C>G (n.*5635C>G) c.*7871C>G (n.*7871C>G) c.5122C>G (p.Leu1708Val) c.5053C>G (p.Leu1685Val) c.4921C>G (p.Leu1641Val) c.4954C>G (p.Leu1652Val) c.1345C>G n.3004C>G c.3776C>G c.4993C>G (p.Leu1665Val) n.719C>G c.4924C>G (p.Leu1642Val) c.4990C>G (p.Leu1664Val) c.4915C>G (p.Leu1639Val) n.2770C>G c.5047C>G (p.Leu1683Val) c.4918C>G (p.Leu1640Val) c.5043C>G n.3206C>G c.5116C>G (p.Leu1706Val) n.3937C>G n.2374C>G n.2345C>G n.2235C>G c.4777C>G (p.Leu1593Val) c.*4289C>G (n.*4289C>G) c.4813C>G (p.Leu1605Val) n.2845C>G c.1304C>G n.2237C>G c.5176C>G (p.Leu1726Val) c.5173C>G (p.Leu1725Val) c.5065C>G (p.Leu1689Val) c.5044C>G (p.Leu1682Val) c.4390C>G (p.Leu1464Val) c.5338C>G (p.Leu1780Val) c.5086C>G (p.Leu1696Val) c.3832C>G (p.Leu1278Val) | ClinVar dbSNP gnomAD v4 |
16 | g.2088101C>T | CA493043661 | TSC2 | c.*3471C>T (n.*3471C>T) c.4969C>T (p.Leu1657=) c.5119C>T (p.Leu1707=) c.*5635C>T (n.*5635C>T) c.*7871C>T (n.*7871C>T) c.5122C>T (p.Leu1708=) c.5053C>T (p.Leu1685=) c.4921C>T (p.Leu1641=) c.4954C>T (p.Leu1652=) c.1345C>T n.3004C>T c.3776C>T c.4993C>T (p.Leu1665=) n.719C>T c.4924C>T (p.Leu1642=) c.4990C>T (p.Leu1664=) c.4915C>T (p.Leu1639=) n.2770C>T c.5047C>T (p.Leu1683=) c.4918C>T (p.Leu1640=) c.5043C>T n.3206C>T c.5116C>T (p.Leu1706=) n.3937C>T n.2374C>T n.2345C>T n.2235C>T c.4777C>T (p.Leu1593=) c.*4289C>T (n.*4289C>T) c.4813C>T (p.Leu1605=) n.2845C>T c.1304C>T n.2237C>T c.5176C>T (p.Leu1726=) c.5173C>T (p.Leu1725=) c.5065C>T (p.Leu1689=) c.5044C>T (p.Leu1682=) c.4390C>T (p.Leu1464=) c.5338C>T (p.Leu1780=) c.5086C>T (p.Leu1696=) c.3832C>T (p.Leu1278=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088102T>A | CA394312399 | TSC2 | c.*3472T>A (n.*3472T>A) c.4970T>A (p.Leu1657Gln) c.5120T>A (p.Leu1707Gln) c.*5636T>A (n.*5636T>A) c.*7872T>A (n.*7872T>A) c.5123T>A (p.Leu1708Gln) c.5054T>A (p.Leu1685Gln) c.4922T>A (p.Leu1641Gln) c.4955T>A (p.Leu1652Gln) c.1346T>A n.3005T>A c.3777T>A c.4994T>A (p.Leu1665Gln) n.720T>A c.4925T>A (p.Leu1642Gln) c.4991T>A (p.Leu1664Gln) c.4916T>A (p.Leu1639Gln) n.2771T>A c.5048T>A (p.Leu1683Gln) c.4919T>A (p.Leu1640Gln) c.5044T>A n.3207T>A c.5117T>A (p.Leu1706Gln) n.3938T>A n.2375T>A n.2346T>A n.2236T>A c.4778T>A (p.Leu1593Gln) c.*4290T>A (n.*4290T>A) c.4814T>A (p.Leu1605Gln) n.2846T>A c.1305T>A n.2238T>A c.5177T>A (p.Leu1726Gln) c.5174T>A (p.Leu1725Gln) c.5066T>A (p.Leu1689Gln) c.5045T>A (p.Leu1682Gln) c.4391T>A (p.Leu1464Gln) c.5339T>A (p.Leu1780Gln) c.5087T>A (p.Leu1696Gln) c.3833T>A (p.Leu1278Gln) | dbSNP |
16 | g.2088102T>C | CA021783 | TSC2 | c.*3472T>C (n.*3472T>C) c.4970T>C (p.Leu1657Pro) c.5120T>C (p.Leu1707Pro) c.*5636T>C (n.*5636T>C) c.*7872T>C (n.*7872T>C) c.5123T>C (p.Leu1708Pro) c.5054T>C (p.Leu1685Pro) c.4922T>C (p.Leu1641Pro) c.4955T>C (p.Leu1652Pro) c.1346T>C n.3005T>C c.3777T>C c.4994T>C (p.Leu1665Pro) n.720T>C c.4925T>C (p.Leu1642Pro) c.4991T>C (p.Leu1664Pro) c.4916T>C (p.Leu1639Pro) n.2771T>C c.5048T>C (p.Leu1683Pro) c.4919T>C (p.Leu1640Pro) c.5044T>C n.3207T>C c.5117T>C (p.Leu1706Pro) n.3938T>C n.2375T>C n.2346T>C n.2236T>C c.4778T>C (p.Leu1593Pro) c.*4290T>C (n.*4290T>C) c.4814T>C (p.Leu1605Pro) n.2846T>C c.1305T>C n.2238T>C c.5177T>C (p.Leu1726Pro) c.5174T>C (p.Leu1725Pro) c.5066T>C (p.Leu1689Pro) c.5045T>C (p.Leu1682Pro) c.4391T>C (p.Leu1464Pro) c.5339T>C (p.Leu1780Pro) c.5087T>C (p.Leu1696Pro) c.3833T>C (p.Leu1278Pro) | ClinVar dbSNP |
16 | g.2088102T>G | CA394312401 | TSC2 | c.*3472T>G (n.*3472T>G) c.4970T>G (p.Leu1657Arg) c.5120T>G (p.Leu1707Arg) c.*5636T>G (n.*5636T>G) c.*7872T>G (n.*7872T>G) c.5123T>G (p.Leu1708Arg) c.5054T>G (p.Leu1685Arg) c.4922T>G (p.Leu1641Arg) c.4955T>G (p.Leu1652Arg) c.1346T>G n.3005T>G c.3777T>G c.4994T>G (p.Leu1665Arg) n.720T>G c.4925T>G (p.Leu1642Arg) c.4991T>G (p.Leu1664Arg) c.4916T>G (p.Leu1639Arg) n.2771T>G c.5048T>G (p.Leu1683Arg) c.4919T>G (p.Leu1640Arg) c.5044T>G n.3207T>G c.5117T>G (p.Leu1706Arg) n.3938T>G n.2375T>G n.2346T>G n.2236T>G c.4778T>G (p.Leu1593Arg) c.*4290T>G (n.*4290T>G) c.4814T>G (p.Leu1605Arg) n.2846T>G c.1305T>G n.2238T>G c.5177T>G (p.Leu1726Arg) c.5174T>G (p.Leu1725Arg) c.5066T>G (p.Leu1689Arg) c.5045T>G (p.Leu1682Arg) c.4391T>G (p.Leu1464Arg) c.5339T>G (p.Leu1780Arg) c.5087T>G (p.Leu1696Arg) c.3833T>G (p.Leu1278Arg) | |
16 | g.2088102T= | CA2202030554 | TSC2 | c.*3472T= (n.*3472T=) c.4970T= (p.Leu1657=) c.5120T= (p.Leu1707=) c.*5636T= (n.*5636T=) c.*7872T= (n.*7872T=) c.5123T= (p.Leu1708=) c.5054T= (p.Leu1685=) c.4922T= (p.Leu1641=) c.4955T= (p.Leu1652=) c.1346T= n.3005T= c.3777T= c.4994T= (p.Leu1665=) n.720T= c.4925T= (p.Leu1642=) c.4991T= (p.Leu1664=) c.4916T= (p.Leu1639=) n.2771T= c.5048T= (p.Leu1683=) c.4919T= (p.Leu1640=) c.5044T= n.3207T= c.5117T= (p.Leu1706=) n.3938T= n.2375T= n.2346T= n.2236T= c.4778T= (p.Leu1593=) c.*4290T= (n.*4290T=) c.4814T= (p.Leu1605=) n.2846T= c.1305T= n.2238T= c.5177T= (p.Leu1726=) c.5174T= (p.Leu1725=) c.5066T= (p.Leu1689=) c.5045T= (p.Leu1682=) c.4391T= (p.Leu1464=) c.5339T= (p.Leu1780=) c.5087T= (p.Leu1696=) c.3833T= (p.Leu1278=) | |
16 | g.2088103G>A | CA493043663 | TSC2 | c.*3473G>A (n.*3473G>A) c.4971G>A (p.Leu1657=) c.5121G>A (p.Leu1707=) c.*5637G>A (n.*5637G>A) c.*7873G>A (n.*7873G>A) c.5124G>A (p.Leu1708=) c.5055G>A (p.Leu1685=) c.4923G>A (p.Leu1641=) c.4956G>A (p.Leu1652=) c.1347G>A n.3006G>A c.3778G>A c.4995G>A (p.Leu1665=) n.721G>A c.4926G>A (p.Leu1642=) c.4992G>A (p.Leu1664=) c.4917G>A (p.Leu1639=) n.2772G>A c.5049G>A (p.Leu1683=) c.4920G>A (p.Leu1640=) c.5045G>A n.3208G>A c.5118G>A (p.Leu1706=) n.3939G>A n.2376G>A n.2347G>A n.2237G>A c.4779G>A (p.Leu1593=) c.*4291G>A (n.*4291G>A) c.4815G>A (p.Leu1605=) n.2847G>A c.1306G>A n.2239G>A c.5178G>A (p.Leu1726=) c.5175G>A (p.Leu1725=) c.5067G>A (p.Leu1689=) c.5046G>A (p.Leu1682=) c.4392G>A (p.Leu1464=) c.5340G>A (p.Leu1780=) c.5088G>A (p.Leu1696=) c.3834G>A (p.Leu1278=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088103G>C | CA493043664 | TSC2 | c.*3473G>C (n.*3473G>C) c.4971G>C (p.Leu1657=) c.5121G>C (p.Leu1707=) c.*5637G>C (n.*5637G>C) c.*7873G>C (n.*7873G>C) c.5124G>C (p.Leu1708=) c.5055G>C (p.Leu1685=) c.4923G>C (p.Leu1641=) c.4956G>C (p.Leu1652=) c.1347G>C n.3006G>C c.3778G>C c.4995G>C (p.Leu1665=) n.721G>C c.4926G>C (p.Leu1642=) c.4992G>C (p.Leu1664=) c.4917G>C (p.Leu1639=) n.2772G>C c.5049G>C (p.Leu1683=) c.4920G>C (p.Leu1640=) c.5045G>C n.3208G>C c.5118G>C (p.Leu1706=) n.3939G>C n.2376G>C n.2347G>C n.2237G>C c.4779G>C (p.Leu1593=) c.*4291G>C (n.*4291G>C) c.4815G>C (p.Leu1605=) n.2847G>C c.1306G>C n.2239G>C c.5178G>C (p.Leu1726=) c.5175G>C (p.Leu1725=) c.5067G>C (p.Leu1689=) c.5046G>C (p.Leu1682=) c.4392G>C (p.Leu1464=) c.5340G>C (p.Leu1780=) c.5088G>C (p.Leu1696=) c.3834G>C (p.Leu1278=) | ClinVar dbSNP |
16 | g.2088103G>T | CA493043665 | TSC2 | c.*3473G>T (n.*3473G>T) c.4971G>T (p.Leu1657=) c.5121G>T (p.Leu1707=) c.*5637G>T (n.*5637G>T) c.*7873G>T (n.*7873G>T) c.5124G>T (p.Leu1708=) c.5055G>T (p.Leu1685=) c.4923G>T (p.Leu1641=) c.4956G>T (p.Leu1652=) c.1347G>T n.3006G>T c.3778G>T c.4995G>T (p.Leu1665=) n.721G>T c.4926G>T (p.Leu1642=) c.4992G>T (p.Leu1664=) c.4917G>T (p.Leu1639=) n.2772G>T c.5049G>T (p.Leu1683=) c.4920G>T (p.Leu1640=) c.5045G>T n.3208G>T c.5118G>T (p.Leu1706=) n.3939G>T n.2376G>T n.2347G>T n.2237G>T c.4779G>T (p.Leu1593=) c.*4291G>T (n.*4291G>T) c.4815G>T (p.Leu1605=) n.2847G>T c.1306G>T n.2239G>T c.5178G>T (p.Leu1726=) c.5175G>T (p.Leu1725=) c.5067G>T (p.Leu1689=) c.5046G>T (p.Leu1682=) c.4392G>T (p.Leu1464=) c.5340G>T (p.Leu1780=) c.5088G>T (p.Leu1696=) c.3834G>T (p.Leu1278=) | COSMIC COSMIC |
16 | g.2088103_2088104delinsGC | CA2202030560 | TSC2 | c.*3473_*3474delinsGC (n.*3473_*3474delinsGC) c.4971_4972delinsGC (p.Leu1657=) c.5121_5122delinsGC (p.Leu1707=) c.*5637_*5638delinsGC (n.*5637_*5638delinsGC) c.*7873_*7874delinsGC (n.*7873_*7874delinsGC) c.5124_5125delinsGC (p.Leu1708=) c.5055_5056delinsGC (p.Leu1685=) c.4923_4924delinsGC (p.Leu1641=) c.4956_4957delinsGC (p.Leu1652=) c.1347_1348delinsGC n.3006_3007delinsGC c.3778_3779delinsGC c.4995_4996delinsGC (p.Leu1665=) n.721_722delinsGC c.4926_4927delinsGC (p.Leu1642=) c.4992_4993delinsGC (p.Leu1664=) c.4917_4918delinsGC (p.Leu1639=) n.2772_2773delinsGC c.5049_5050delinsGC (p.Leu1683=) c.4920_4921delinsGC (p.Leu1640=) c.5045_5046delinsGC n.3208_3209delinsGC c.5118_5119delinsGC (p.Leu1706=) n.3939_3940delinsGC n.2376_2377delinsGC n.2347_2348delinsGC n.2237_2238delinsGC c.4779_4780delinsGC (p.Leu1593=) c.*4291_*4292delinsGC (n.*4291_*4292delinsGC) c.4815_4816delinsGC (p.Leu1605=) n.2847_2848delinsGC c.1306_1307delinsGC n.2239_2240delinsGC c.5178_5179delinsGC (p.Leu1726=) c.5175_5176delinsGC (p.Leu1725=) c.5067_5068delinsGC (p.Leu1689=) c.5046_5047delinsGC (p.Leu1682=) c.4392_4393delinsGC (p.Leu1464=) c.5340_5341delinsGC (p.Leu1780=) c.5088_5089delinsGC (p.Leu1696=) c.3834_3835delinsGC (p.Leu1278=) | |
16 | g.2088104C>A | CA394312405 | TSC2 | c.*3474C>A (n.*3474C>A) c.4972C>A (p.Pro1658Thr) c.5122C>A (p.Pro1708Thr) c.*5638C>A (n.*5638C>A) c.*7874C>A (n.*7874C>A) c.5125C>A (p.Pro1709Thr) c.5056C>A (p.Pro1686Thr) c.4924C>A (p.Pro1642Thr) c.4957C>A (p.Pro1653Thr) c.1348C>A n.3007C>A c.3779C>A c.4996C>A (p.Pro1666Thr) n.722C>A c.4927C>A (p.Pro1643Thr) c.4993C>A (p.Pro1665Thr) c.4918C>A (p.Pro1640Thr) n.2773C>A c.5050C>A (p.Pro1684Thr) c.4921C>A (p.Pro1641Thr) c.5046C>A n.3209C>A c.5119C>A (p.Pro1707Thr) n.3940C>A n.2377C>A n.2348C>A n.2238C>A c.4780C>A (p.Pro1594Thr) c.*4292C>A (n.*4292C>A) c.4816C>A (p.Pro1606Thr) n.2848C>A c.1307C>A n.2240C>A c.5179C>A (p.Pro1727Thr) c.5176C>A (p.Pro1726Thr) c.5068C>A (p.Pro1690Thr) c.5047C>A (p.Pro1683Thr) c.4393C>A (p.Pro1465Thr) c.5341C>A (p.Pro1781Thr) c.5089C>A (p.Pro1697Thr) c.3835C>A (p.Pro1279Thr) | ClinVar dbSNP |
16 | g.2088104C= | CA2202030569 | TSC2 | c.*3474C= (n.*3474C=) c.4972C= (p.Pro1658=) c.5122C= (p.Pro1708=) c.*5638C= (n.*5638C=) c.*7874C= (n.*7874C=) c.5125C= (p.Pro1709=) c.5056C= (p.Pro1686=) c.4924C= (p.Pro1642=) c.4957C= (p.Pro1653=) c.1348C= n.3007C= c.3779C= c.4996C= (p.Pro1666=) n.722C= c.4927C= (p.Pro1643=) c.4993C= (p.Pro1665=) c.4918C= (p.Pro1640=) n.2773C= c.5050C= (p.Pro1684=) c.4921C= (p.Pro1641=) c.5046C= n.3209C= c.5119C= (p.Pro1707=) n.3940C= n.2377C= n.2348C= n.2238C= c.4780C= (p.Pro1594=) c.*4292C= (n.*4292C=) c.4816C= (p.Pro1606=) n.2848C= c.1307C= n.2240C= c.5179C= (p.Pro1727=) c.5176C= (p.Pro1726=) c.5068C= (p.Pro1690=) c.5047C= (p.Pro1683=) c.4393C= (p.Pro1465=) c.5341C= (p.Pro1781=) c.5089C= (p.Pro1697=) c.3835C= (p.Pro1279=) | |
16 | g.2088104C>G | CA394312418 | TSC2 | c.*3474C>G (n.*3474C>G) c.4972C>G (p.Pro1658Ala) c.5122C>G (p.Pro1708Ala) c.*5638C>G (n.*5638C>G) c.*7874C>G (n.*7874C>G) c.5125C>G (p.Pro1709Ala) c.5056C>G (p.Pro1686Ala) c.4924C>G (p.Pro1642Ala) c.4957C>G (p.Pro1653Ala) c.1348C>G n.3007C>G c.3779C>G c.4996C>G (p.Pro1666Ala) n.722C>G c.4927C>G (p.Pro1643Ala) c.4993C>G (p.Pro1665Ala) c.4918C>G (p.Pro1640Ala) n.2773C>G c.5050C>G (p.Pro1684Ala) c.4921C>G (p.Pro1641Ala) c.5046C>G n.3209C>G c.5119C>G (p.Pro1707Ala) n.3940C>G n.2377C>G n.2348C>G n.2238C>G c.4780C>G (p.Pro1594Ala) c.*4292C>G (n.*4292C>G) c.4816C>G (p.Pro1606Ala) n.2848C>G c.1307C>G n.2240C>G c.5179C>G (p.Pro1727Ala) c.5176C>G (p.Pro1726Ala) c.5068C>G (p.Pro1690Ala) c.5047C>G (p.Pro1683Ala) c.4393C>G (p.Pro1465Ala) c.5341C>G (p.Pro1781Ala) c.5089C>G (p.Pro1697Ala) c.3835C>G (p.Pro1279Ala) | dbSNP |
16 | g.2088104C>T | CA394312416 | TSC2 | c.*3474C>T (n.*3474C>T) c.4972C>T (p.Pro1658Ser) c.5122C>T (p.Pro1708Ser) c.*5638C>T (n.*5638C>T) c.*7874C>T (n.*7874C>T) c.5125C>T (p.Pro1709Ser) c.5056C>T (p.Pro1686Ser) c.4924C>T (p.Pro1642Ser) c.4957C>T (p.Pro1653Ser) c.1348C>T n.3007C>T c.3779C>T c.4996C>T (p.Pro1666Ser) n.722C>T c.4927C>T (p.Pro1643Ser) c.4993C>T (p.Pro1665Ser) c.4918C>T (p.Pro1640Ser) n.2773C>T c.5050C>T (p.Pro1684Ser) c.4921C>T (p.Pro1641Ser) c.5046C>T n.3209C>T c.5119C>T (p.Pro1707Ser) n.3940C>T n.2377C>T n.2348C>T n.2238C>T c.4780C>T (p.Pro1594Ser) c.*4292C>T (n.*4292C>T) c.4816C>T (p.Pro1606Ser) n.2848C>T c.1307C>T n.2240C>T c.5179C>T (p.Pro1727Ser) c.5176C>T (p.Pro1726Ser) c.5068C>T (p.Pro1690Ser) c.5047C>T (p.Pro1683Ser) c.4393C>T (p.Pro1465Ser) c.5341C>T (p.Pro1781Ser) c.5089C>T (p.Pro1697Ser) c.3835C>T (p.Pro1279Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
16 | g.2088106dup | CA021801 | TSC2 | c.*3476dup (n.*3476dup) c.4974dup (p.Phe1659LeufsTer19) c.5124dup (p.Phe1709LeufsTer19) c.*5640dup (n.*5640dup) c.*7876dup (n.*7876dup) c.5127dup (p.Phe1710LeufsTer19) c.5058dup (p.Phe1687LeufsTer19) c.4926dup (p.Phe1643LeufsTer19) c.4959dup (p.Phe1654LeufsTer19) c.1350dup n.3009dup c.3781dup c.4998dup (p.Phe1667LeufsTer15) n.724dup c.4929dup (p.Phe1644LeufsTer19) c.4995dup (p.Phe1666LeufsTer19) c.4920dup (p.Phe1641LeufsTer19) n.2775dup c.5052dup (p.Phe1685LeufsTer19) c.4998dup (p.Phe1667LeufsTer19) c.4926dup (p.Phe1643LeufsTer20) c.4923dup (p.Phe1642LeufsTer19) c.5048dup n.3211dup c.5121dup (p.Phe1708LeufsTer19) n.3942dup n.2379dup n.2350dup n.2240dup c.4782dup (p.Phe1595LeufsTer19) c.*4294dup (n.*4294dup) c.4818dup (p.Phe1607LeufsTer19) n.2850dup c.1309dup n.2242dup c.5181dup (p.Phe1728LeufsTer19) c.5178dup (p.Phe1727LeufsTer19) c.5070dup (p.Phe1691LeufsTer19) c.5049dup (p.Phe1684LeufsTer19) c.4395dup (p.Phe1466LeufsTer19) c.5343dup (p.Phe1782LeufsTer19) c.5091dup (p.Phe1698LeufsTer19) c.3837dup (p.Phe1280LeufsTer19) | ClinVar dbSNP |
16 | g.2088106del | CA021805 | TSC2 | c.*3476del (n.*3476del) c.4974del (p.Phe1659SerfsTer?) c.5124del (p.Phe1709SerfsTer?) c.*5640del (n.*5640del) c.*7876del (n.*7876del) c.5127del (p.Phe1710SerfsTer?) c.5058del (p.Phe1687SerfsTer?) c.4926del (p.Phe1643SerfsTer?) c.4959del (p.Phe1654SerfsTer?) c.1350del n.3009del c.3781del c.4998del (p.Phe1667SerfsTer?) n.724del c.4929del (p.Phe1644SerfsTer?) c.4995del (p.Phe1666SerfsTer?) c.4920del (p.Phe1641SerfsTer?) n.2775del c.5052del (p.Phe1685SerfsTer?) c.4926del (p.Phe1643SerfsTer12) c.4923del (p.Phe1642SerfsTer?) c.5048del n.3211del c.5121del (p.Phe1708SerfsTer?) n.3942del n.2379del n.2350del n.2240del c.4782del (p.Phe1595SerfsTer?) c.*4294del (n.*4294del) c.4818del (p.Phe1607SerfsTer?) n.2850del c.1309del n.2242del c.5181del (p.Phe1728SerfsTer?) c.5178del (p.Phe1727SerfsTer?) c.5070del (p.Phe1691SerfsTer?) c.5049del (p.Phe1684SerfsTer?) c.4395del (p.Phe1466SerfsTer?) c.5343del (p.Phe1782SerfsTer?) c.5091del (p.Phe1698SerfsTer?) c.3837del (p.Phe1280SerfsTer?) | ClinVar dbSNP COSMIC |
16 | g.2088105C>A | CA394312422 | TSC2 | c.*3475C>A (n.*3475C>A) c.4973C>A (p.Pro1658His) c.5123C>A (p.Pro1708His) c.*5639C>A (n.*5639C>A) c.*7875C>A (n.*7875C>A) c.5126C>A (p.Pro1709His) c.5057C>A (p.Pro1686His) c.4925C>A (p.Pro1642His) c.4958C>A (p.Pro1653His) c.1349C>A n.3008C>A c.3780C>A c.4997C>A (p.Pro1666His) n.723C>A c.4928C>A (p.Pro1643His) c.4994C>A (p.Pro1665His) c.4919C>A (p.Pro1640His) n.2774C>A c.5051C>A (p.Pro1684His) c.4922C>A (p.Pro1641His) c.5047C>A n.3210C>A c.5120C>A (p.Pro1707His) n.3941C>A n.2378C>A n.2349C>A n.2239C>A c.4781C>A (p.Pro1594His) c.*4293C>A (n.*4293C>A) c.4817C>A (p.Pro1606His) n.2849C>A c.1308C>A n.2241C>A c.5180C>A (p.Pro1727His) c.5177C>A (p.Pro1726His) c.5069C>A (p.Pro1690His) c.5048C>A (p.Pro1683His) c.4394C>A (p.Pro1465His) c.5342C>A (p.Pro1781His) c.5090C>A (p.Pro1697His) c.3836C>A (p.Pro1279His) | dbSNP |
16 | g.2088105C= | CA2202030585 | TSC2 | c.*3475C= (n.*3475C=) c.4973C= (p.Pro1658=) c.5123C= (p.Pro1708=) c.*5639C= (n.*5639C=) c.*7875C= (n.*7875C=) c.5126C= (p.Pro1709=) c.5057C= (p.Pro1686=) c.4925C= (p.Pro1642=) c.4958C= (p.Pro1653=) c.1349C= n.3008C= c.3780C= c.4997C= (p.Pro1666=) n.723C= c.4928C= (p.Pro1643=) c.4994C= (p.Pro1665=) c.4919C= (p.Pro1640=) n.2774C= c.5051C= (p.Pro1684=) c.4922C= (p.Pro1641=) c.5047C= n.3210C= c.5120C= (p.Pro1707=) n.3941C= n.2378C= n.2349C= n.2239C= c.4781C= (p.Pro1594=) c.*4293C= (n.*4293C=) c.4817C= (p.Pro1606=) n.2849C= c.1308C= n.2241C= c.5180C= (p.Pro1727=) c.5177C= (p.Pro1726=) c.5069C= (p.Pro1690=) c.5048C= (p.Pro1683=) c.4394C= (p.Pro1465=) c.5342C= (p.Pro1781=) c.5090C= (p.Pro1697=) c.3836C= (p.Pro1279=) | |
16 | g.2088105C>G | CA021789 | TSC2 | c.*3475C>G (n.*3475C>G) c.4973C>G (p.Pro1658Arg) c.5123C>G (p.Pro1708Arg) c.*5639C>G (n.*5639C>G) c.*7875C>G (n.*7875C>G) c.5126C>G (p.Pro1709Arg) c.5057C>G (p.Pro1686Arg) c.4925C>G (p.Pro1642Arg) c.4958C>G (p.Pro1653Arg) c.1349C>G n.3008C>G c.3780C>G c.4997C>G (p.Pro1666Arg) n.723C>G c.4928C>G (p.Pro1643Arg) c.4994C>G (p.Pro1665Arg) c.4919C>G (p.Pro1640Arg) n.2774C>G c.5051C>G (p.Pro1684Arg) c.4922C>G (p.Pro1641Arg) c.5047C>G n.3210C>G c.5120C>G (p.Pro1707Arg) n.3941C>G n.2378C>G n.2349C>G n.2239C>G c.4781C>G (p.Pro1594Arg) c.*4293C>G (n.*4293C>G) c.4817C>G (p.Pro1606Arg) n.2849C>G c.1308C>G n.2241C>G c.5180C>G (p.Pro1727Arg) c.5177C>G (p.Pro1726Arg) c.5069C>G (p.Pro1690Arg) c.5048C>G (p.Pro1683Arg) c.4394C>G (p.Pro1465Arg) c.5342C>G (p.Pro1781Arg) c.5090C>G (p.Pro1697Arg) c.3836C>G (p.Pro1279Arg) | ClinVar dbSNP |
16 | g.2088105C>T | CA021795 | TSC2 | c.*3475C>T (n.*3475C>T) c.4973C>T (p.Pro1658Leu) c.5123C>T (p.Pro1708Leu) c.*5639C>T (n.*5639C>T) c.*7875C>T (n.*7875C>T) c.5126C>T (p.Pro1709Leu) c.5057C>T (p.Pro1686Leu) c.4925C>T (p.Pro1642Leu) c.4958C>T (p.Pro1653Leu) c.1349C>T n.3008C>T c.3780C>T c.4997C>T (p.Pro1666Leu) n.723C>T c.4928C>T (p.Pro1643Leu) c.4994C>T (p.Pro1665Leu) c.4919C>T (p.Pro1640Leu) n.2774C>T c.5051C>T (p.Pro1684Leu) c.4922C>T (p.Pro1641Leu) c.5047C>T n.3210C>T c.5120C>T (p.Pro1707Leu) n.3941C>T n.2378C>T n.2349C>T n.2239C>T c.4781C>T (p.Pro1594Leu) c.*4293C>T (n.*4293C>T) c.4817C>T (p.Pro1606Leu) n.2849C>T c.1308C>T n.2241C>T c.5180C>T (p.Pro1727Leu) c.5177C>T (p.Pro1726Leu) c.5069C>T (p.Pro1690Leu) c.5048C>T (p.Pro1683Leu) c.4394C>T (p.Pro1465Leu) c.5342C>T (p.Pro1781Leu) c.5090C>T (p.Pro1697Leu) c.3836C>T (p.Pro1279Leu) | ClinVar dbSNP |
16 | g.2088106C>A | CA493043668 | TSC2 | c.*3476C>A (n.*3476C>A) c.4974C>A (p.Pro1658=) c.5124C>A (p.Pro1708=) c.*5640C>A (n.*5640C>A) c.*7876C>A (n.*7876C>A) c.5127C>A (p.Pro1709=) c.5058C>A (p.Pro1686=) c.4926C>A (p.Pro1642=) c.4959C>A (p.Pro1653=) c.1350C>A n.3009C>A c.3781C>A c.4998C>A (p.Pro1666=) n.724C>A c.4929C>A (p.Pro1643=) c.4995C>A (p.Pro1665=) c.4920C>A (p.Pro1640=) n.2775C>A c.5052C>A (p.Pro1684=) c.4923C>A (p.Pro1641=) c.5048C>A n.3211C>A c.5121C>A (p.Pro1707=) n.3942C>A n.2379C>A n.2350C>A n.2240C>A c.4782C>A (p.Pro1594=) c.*4294C>A (n.*4294C>A) c.4818C>A (p.Pro1606=) n.2850C>A c.1309C>A n.2242C>A c.5181C>A (p.Pro1727=) c.5178C>A (p.Pro1726=) c.5070C>A (p.Pro1690=) c.5049C>A (p.Pro1683=) c.4395C>A (p.Pro1465=) c.5343C>A (p.Pro1781=) c.5091C>A (p.Pro1697=) c.3837C>A (p.Pro1279=) | ClinVar dbSNP |
16 | g.2088106C= | CA2202030611 | TSC2 | c.*3476C= (n.*3476C=) c.4974C= (p.Pro1658=) c.5124C= (p.Pro1708=) c.*5640C= (n.*5640C=) c.*7876C= (n.*7876C=) c.5127C= (p.Pro1709=) c.5058C= (p.Pro1686=) c.4926C= (p.Pro1642=) c.4959C= (p.Pro1653=) c.1350C= n.3009C= c.3781C= c.4998C= (p.Pro1666=) n.724C= c.4929C= (p.Pro1643=) c.4995C= (p.Pro1665=) c.4920C= (p.Pro1640=) n.2775C= c.5052C= (p.Pro1684=) c.4923C= (p.Pro1641=) c.5048C= n.3211C= c.5121C= (p.Pro1707=) n.3942C= n.2379C= n.2350C= n.2240C= c.4782C= (p.Pro1594=) c.*4294C= (n.*4294C=) c.4818C= (p.Pro1606=) n.2850C= c.1309C= n.2242C= c.5181C= (p.Pro1727=) c.5178C= (p.Pro1726=) c.5070C= (p.Pro1690=) c.5049C= (p.Pro1683=) c.4395C= (p.Pro1465=) c.5343C= (p.Pro1781=) c.5091C= (p.Pro1697=) c.3837C= (p.Pro1279=) | |
16 | g.2088106C>G | CA493043669 | TSC2 | c.*3476C>G (n.*3476C>G) c.4974C>G (p.Pro1658=) c.5124C>G (p.Pro1708=) c.*5640C>G (n.*5640C>G) c.*7876C>G (n.*7876C>G) c.5127C>G (p.Pro1709=) c.5058C>G (p.Pro1686=) c.4926C>G (p.Pro1642=) c.4959C>G (p.Pro1653=) c.1350C>G n.3009C>G c.3781C>G c.4998C>G (p.Pro1666=) n.724C>G c.4929C>G (p.Pro1643=) c.4995C>G (p.Pro1665=) c.4920C>G (p.Pro1640=) n.2775C>G c.5052C>G (p.Pro1684=) c.4923C>G (p.Pro1641=) c.5048C>G n.3211C>G c.5121C>G (p.Pro1707=) n.3942C>G n.2379C>G n.2350C>G n.2240C>G c.4782C>G (p.Pro1594=) c.*4294C>G (n.*4294C>G) c.4818C>G (p.Pro1606=) n.2850C>G c.1309C>G n.2242C>G c.5181C>G (p.Pro1727=) c.5178C>G (p.Pro1726=) c.5070C>G (p.Pro1690=) c.5049C>G (p.Pro1683=) c.4395C>G (p.Pro1465=) c.5343C>G (p.Pro1781=) c.5091C>G (p.Pro1697=) c.3837C>G (p.Pro1279=) | ClinVar dbSNP |
16 | g.2088106C>T | CA054009 | TSC2 | c.*3476C>T (n.*3476C>T) c.4974C>T (p.Pro1658=) c.5124C>T (p.Pro1708=) c.*5640C>T (n.*5640C>T) c.*7876C>T (n.*7876C>T) c.5127C>T (p.Pro1709=) c.5058C>T (p.Pro1686=) c.4926C>T (p.Pro1642=) c.4959C>T (p.Pro1653=) c.1350C>T n.3009C>T c.3781C>T c.4998C>T (p.Pro1666=) n.724C>T c.4929C>T (p.Pro1643=) c.4995C>T (p.Pro1665=) c.4920C>T (p.Pro1640=) n.2775C>T c.5052C>T (p.Pro1684=) c.4923C>T (p.Pro1641=) c.5048C>T n.3211C>T c.5121C>T (p.Pro1707=) n.3942C>T n.2379C>T n.2350C>T n.2240C>T c.4782C>T (p.Pro1594=) c.*4294C>T (n.*4294C>T) c.4818C>T (p.Pro1606=) n.2850C>T c.1309C>T n.2242C>T c.5181C>T (p.Pro1727=) c.5178C>T (p.Pro1726=) c.5070C>T (p.Pro1690=) c.5049C>T (p.Pro1683=) c.4395C>T (p.Pro1465=) c.5343C>T (p.Pro1781=) c.5091C>T (p.Pro1697=) c.3837C>T (p.Pro1279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088107_2088109del | CA2697549440 | TSC2 | c.*3477_*3479del (n.*3477_*3479del) c.4975_4977del (p.Phe1659del) c.5125_5127del (p.Phe1709del) c.*5641_*5643del (n.*5641_*5643del) c.*7877_*7879del (n.*7877_*7879del) c.5128_5130del (p.Phe1710del) c.5059_5061del (p.Phe1687del) c.4927_4929del (p.Phe1643del) c.4960_4962del (p.Phe1654del) c.1351_1353del n.3010_3012del c.3782_3784del c.4999_5001del (p.Phe1667del) n.725_727del c.4930_4932del (p.Phe1644del) c.4996_4998del (p.Phe1666del) c.4921_4923del (p.Phe1641del) n.2776_2778del c.5053_5055del (p.Phe1685del) c.4924_4926del (p.Phe1642del) c.5049_5051del n.3212_3214del c.5122_5124del (p.Phe1708del) n.3943_3945del n.2380_2382del n.2351_2353del n.2241_2243del c.4783_4785del (p.Phe1595del) c.*4295_*4297del (n.*4295_*4297del) c.4819_4821del (p.Phe1607del) n.2851_2853del c.1310_1312del n.2243_2245del c.5182_5184del (p.Phe1728del) c.5179_5181del (p.Phe1727del) c.5071_5073del (p.Phe1691del) c.5050_5052del (p.Phe1684del) c.4396_4398del (p.Phe1466del) c.5344_5346del (p.Phe1782del) c.5092_5094del (p.Phe1698del) c.3838_3840del (p.Phe1280del) | ClinVar |
16 | g.2088107T>A | CA394312431 | TSC2 | c.*3477T>A (n.*3477T>A) c.4975T>A (p.Phe1659Ile) c.5125T>A (p.Phe1709Ile) c.*5641T>A (n.*5641T>A) c.*7877T>A (n.*7877T>A) c.5128T>A (p.Phe1710Ile) c.5059T>A (p.Phe1687Ile) c.4927T>A (p.Phe1643Ile) c.4960T>A (p.Phe1654Ile) c.1351T>A n.3010T>A c.3782T>A c.4999T>A (p.Phe1667Ile) n.725T>A c.4930T>A (p.Phe1644Ile) c.4996T>A (p.Phe1666Ile) c.4921T>A (p.Phe1641Ile) n.2776T>A c.5053T>A (p.Phe1685Ile) c.4924T>A (p.Phe1642Ile) c.5049T>A n.3212T>A c.5122T>A (p.Phe1708Ile) n.3943T>A n.2380T>A n.2351T>A n.2241T>A c.4783T>A (p.Phe1595Ile) c.*4295T>A (n.*4295T>A) c.4819T>A (p.Phe1607Ile) n.2851T>A c.1310T>A n.2243T>A c.5182T>A (p.Phe1728Ile) c.5179T>A (p.Phe1727Ile) c.5071T>A (p.Phe1691Ile) c.5050T>A (p.Phe1684Ile) c.4396T>A (p.Phe1466Ile) c.5344T>A (p.Phe1782Ile) c.5092T>A (p.Phe1698Ile) c.3838T>A (p.Phe1280Ile) | dbSNP |
16 | g.2088107T>C | CA394312434 | TSC2 | c.*3477T>C (n.*3477T>C) c.4975T>C (p.Phe1659Leu) c.5125T>C (p.Phe1709Leu) c.*5641T>C (n.*5641T>C) c.*7877T>C (n.*7877T>C) c.5128T>C (p.Phe1710Leu) c.5059T>C (p.Phe1687Leu) c.4927T>C (p.Phe1643Leu) c.4960T>C (p.Phe1654Leu) c.1351T>C n.3010T>C c.3782T>C c.4999T>C (p.Phe1667Leu) n.725T>C c.4930T>C (p.Phe1644Leu) c.4996T>C (p.Phe1666Leu) c.4921T>C (p.Phe1641Leu) n.2776T>C c.5053T>C (p.Phe1685Leu) c.4924T>C (p.Phe1642Leu) c.5049T>C n.3212T>C c.5122T>C (p.Phe1708Leu) n.3943T>C n.2380T>C n.2351T>C n.2241T>C c.4783T>C (p.Phe1595Leu) c.*4295T>C (n.*4295T>C) c.4819T>C (p.Phe1607Leu) n.2851T>C c.1310T>C n.2243T>C c.5182T>C (p.Phe1728Leu) c.5179T>C (p.Phe1727Leu) c.5071T>C (p.Phe1691Leu) c.5050T>C (p.Phe1684Leu) c.4396T>C (p.Phe1466Leu) c.5344T>C (p.Phe1782Leu) c.5092T>C (p.Phe1698Leu) c.3838T>C (p.Phe1280Leu) | dbSNP |
16 | g.2088107T>G | CA394312436 | TSC2 | c.*3477T>G (n.*3477T>G) c.4975T>G (p.Phe1659Val) c.5125T>G (p.Phe1709Val) c.*5641T>G (n.*5641T>G) c.*7877T>G (n.*7877T>G) c.5128T>G (p.Phe1710Val) c.5059T>G (p.Phe1687Val) c.4927T>G (p.Phe1643Val) c.4960T>G (p.Phe1654Val) c.1351T>G n.3010T>G c.3782T>G c.4999T>G (p.Phe1667Val) n.725T>G c.4930T>G (p.Phe1644Val) c.4996T>G (p.Phe1666Val) c.4921T>G (p.Phe1641Val) n.2776T>G c.5053T>G (p.Phe1685Val) c.4924T>G (p.Phe1642Val) c.5049T>G n.3212T>G c.5122T>G (p.Phe1708Val) n.3943T>G n.2380T>G n.2351T>G n.2241T>G c.4783T>G (p.Phe1595Val) c.*4295T>G (n.*4295T>G) c.4819T>G (p.Phe1607Val) n.2851T>G c.1310T>G n.2243T>G c.5182T>G (p.Phe1728Val) c.5179T>G (p.Phe1727Val) c.5071T>G (p.Phe1691Val) c.5050T>G (p.Phe1684Val) c.4396T>G (p.Phe1466Val) c.5344T>G (p.Phe1782Val) c.5092T>G (p.Phe1698Val) c.3838T>G (p.Phe1280Val) | |
16 | g.2088108T>A | CA394312441 | TSC2 | c.*3478T>A (n.*3478T>A) c.4976T>A (p.Phe1659Tyr) c.5126T>A (p.Phe1709Tyr) c.*5642T>A (n.*5642T>A) c.*7878T>A (n.*7878T>A) c.5129T>A (p.Phe1710Tyr) c.5060T>A (p.Phe1687Tyr) c.4928T>A (p.Phe1643Tyr) c.4961T>A (p.Phe1654Tyr) c.1352T>A n.3011T>A c.3783T>A c.5000T>A (p.Phe1667Tyr) n.726T>A c.4931T>A (p.Phe1644Tyr) c.4997T>A (p.Phe1666Tyr) c.4922T>A (p.Phe1641Tyr) n.2777T>A c.5054T>A (p.Phe1685Tyr) c.4925T>A (p.Phe1642Tyr) c.5050T>A n.3213T>A c.5123T>A (p.Phe1708Tyr) n.3944T>A n.2381T>A n.2352T>A n.2242T>A c.4784T>A (p.Phe1595Tyr) c.*4296T>A (n.*4296T>A) c.4820T>A (p.Phe1607Tyr) n.2852T>A c.1311T>A n.2244T>A c.5183T>A (p.Phe1728Tyr) c.5180T>A (p.Phe1727Tyr) c.5072T>A (p.Phe1691Tyr) c.5051T>A (p.Phe1684Tyr) c.4397T>A (p.Phe1466Tyr) c.5345T>A (p.Phe1782Tyr) c.5093T>A (p.Phe1698Tyr) c.3839T>A (p.Phe1280Tyr) | dbSNP |
16 | g.2088108T>C | CA394312443 | TSC2 | c.*3478T>C (n.*3478T>C) c.4976T>C (p.Phe1659Ser) c.5126T>C (p.Phe1709Ser) c.*5642T>C (n.*5642T>C) c.*7878T>C (n.*7878T>C) c.5129T>C (p.Phe1710Ser) c.5060T>C (p.Phe1687Ser) c.4928T>C (p.Phe1643Ser) c.4961T>C (p.Phe1654Ser) c.1352T>C n.3011T>C c.3783T>C c.5000T>C (p.Phe1667Ser) n.726T>C c.4931T>C (p.Phe1644Ser) c.4997T>C (p.Phe1666Ser) c.4922T>C (p.Phe1641Ser) n.2777T>C c.5054T>C (p.Phe1685Ser) c.4925T>C (p.Phe1642Ser) c.5050T>C n.3213T>C c.5123T>C (p.Phe1708Ser) n.3944T>C n.2381T>C n.2352T>C n.2242T>C c.4784T>C (p.Phe1595Ser) c.*4296T>C (n.*4296T>C) c.4820T>C (p.Phe1607Ser) n.2852T>C c.1311T>C n.2244T>C c.5183T>C (p.Phe1728Ser) c.5180T>C (p.Phe1727Ser) c.5072T>C (p.Phe1691Ser) c.5051T>C (p.Phe1684Ser) c.4397T>C (p.Phe1466Ser) c.5345T>C (p.Phe1782Ser) c.5093T>C (p.Phe1698Ser) c.3839T>C (p.Phe1280Ser) | dbSNP |
16 | g.2088108T>G | CA394312445 | TSC2 | c.*3478T>G (n.*3478T>G) c.4976T>G (p.Phe1659Cys) c.5126T>G (p.Phe1709Cys) c.*5642T>G (n.*5642T>G) c.*7878T>G (n.*7878T>G) c.5129T>G (p.Phe1710Cys) c.5060T>G (p.Phe1687Cys) c.4928T>G (p.Phe1643Cys) c.4961T>G (p.Phe1654Cys) c.1352T>G n.3011T>G c.3783T>G c.5000T>G (p.Phe1667Cys) n.726T>G c.4931T>G (p.Phe1644Cys) c.4997T>G (p.Phe1666Cys) c.4922T>G (p.Phe1641Cys) n.2777T>G c.5054T>G (p.Phe1685Cys) c.4925T>G (p.Phe1642Cys) c.5050T>G n.3213T>G c.5123T>G (p.Phe1708Cys) n.3944T>G n.2381T>G n.2352T>G n.2242T>G c.4784T>G (p.Phe1595Cys) c.*4296T>G (n.*4296T>G) c.4820T>G (p.Phe1607Cys) n.2852T>G c.1311T>G n.2244T>G c.5183T>G (p.Phe1728Cys) c.5180T>G (p.Phe1727Cys) c.5072T>G (p.Phe1691Cys) c.5051T>G (p.Phe1684Cys) c.4397T>G (p.Phe1466Cys) c.5345T>G (p.Phe1782Cys) c.5093T>G (p.Phe1698Cys) c.3839T>G (p.Phe1280Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088108T= | CA2202030618 | TSC2 | c.*3478T= (n.*3478T=) c.4976T= (p.Phe1659=) c.5126T= (p.Phe1709=) c.*5642T= (n.*5642T=) c.*7878T= (n.*7878T=) c.5129T= (p.Phe1710=) c.5060T= (p.Phe1687=) c.4928T= (p.Phe1643=) c.4961T= (p.Phe1654=) c.1352T= n.3011T= c.3783T= c.5000T= (p.Phe1667=) n.726T= c.4931T= (p.Phe1644=) c.4997T= (p.Phe1666=) c.4922T= (p.Phe1641=) n.2777T= c.5054T= (p.Phe1685=) c.4925T= (p.Phe1642=) c.5050T= n.3213T= c.5123T= (p.Phe1708=) n.3944T= n.2381T= n.2352T= n.2242T= c.4784T= (p.Phe1595=) c.*4296T= (n.*4296T=) c.4820T= (p.Phe1607=) n.2852T= c.1311T= n.2244T= c.5183T= (p.Phe1728=) c.5180T= (p.Phe1727=) c.5072T= (p.Phe1691=) c.5051T= (p.Phe1684=) c.4397T= (p.Phe1466=) c.5345T= (p.Phe1782=) c.5093T= (p.Phe1698=) c.3839T= (p.Phe1280=) | |
16 | g.2088109C>A | CA394312452 | TSC2 | c.*3479C>A (n.*3479C>A) c.4977C>A (p.Phe1659Leu) c.5127C>A (p.Phe1709Leu) c.*5643C>A (n.*5643C>A) c.*7879C>A (n.*7879C>A) c.5130C>A (p.Phe1710Leu) c.5061C>A (p.Phe1687Leu) c.4929C>A (p.Phe1643Leu) c.4962C>A (p.Phe1654Leu) c.1353C>A n.3012C>A c.3784C>A c.5001C>A (p.Phe1667Leu) n.727C>A c.4932C>A (p.Phe1644Leu) c.4998C>A (p.Phe1666Leu) c.4923C>A (p.Phe1641Leu) n.2778C>A c.5055C>A (p.Phe1685Leu) c.4926C>A (p.Phe1642Leu) c.5051C>A n.3214C>A c.5124C>A (p.Phe1708Leu) n.3945C>A n.2382C>A n.2353C>A n.2243C>A c.4785C>A (p.Phe1595Leu) c.*4297C>A (n.*4297C>A) c.4821C>A (p.Phe1607Leu) n.2853C>A c.1312C>A n.2245C>A c.5184C>A (p.Phe1728Leu) c.5181C>A (p.Phe1727Leu) c.5073C>A (p.Phe1691Leu) c.5052C>A (p.Phe1684Leu) c.4398C>A (p.Phe1466Leu) c.5346C>A (p.Phe1782Leu) c.5094C>A (p.Phe1698Leu) c.3840C>A (p.Phe1280Leu) | ClinVar dbSNP |
16 | g.2088109C= | CA2202030625 | TSC2 | c.*3479C= (n.*3479C=) c.4977C= (p.Phe1659=) c.5127C= (p.Phe1709=) c.*5643C= (n.*5643C=) c.*7879C= (n.*7879C=) c.5130C= (p.Phe1710=) c.5061C= (p.Phe1687=) c.4929C= (p.Phe1643=) c.4962C= (p.Phe1654=) c.1353C= n.3012C= c.3784C= c.5001C= (p.Phe1667=) n.727C= c.4932C= (p.Phe1644=) c.4998C= (p.Phe1666=) c.4923C= (p.Phe1641=) n.2778C= c.5055C= (p.Phe1685=) c.4926C= (p.Phe1642=) c.5051C= n.3214C= c.5124C= (p.Phe1708=) n.3945C= n.2382C= n.2353C= n.2243C= c.4785C= (p.Phe1595=) c.*4297C= (n.*4297C=) c.4821C= (p.Phe1607=) n.2853C= c.1312C= n.2245C= c.5184C= (p.Phe1728=) c.5181C= (p.Phe1727=) c.5073C= (p.Phe1691=) c.5052C= (p.Phe1684=) c.4398C= (p.Phe1466=) c.5346C= (p.Phe1782=) c.5094C= (p.Phe1698=) c.3840C= (p.Phe1280=) | |
16 | g.2088109C>G | CA394312448 | TSC2 | c.*3479C>G (n.*3479C>G) c.4977C>G (p.Phe1659Leu) c.5127C>G (p.Phe1709Leu) c.*5643C>G (n.*5643C>G) c.*7879C>G (n.*7879C>G) c.5130C>G (p.Phe1710Leu) c.5061C>G (p.Phe1687Leu) c.4929C>G (p.Phe1643Leu) c.4962C>G (p.Phe1654Leu) c.1353C>G n.3012C>G c.3784C>G c.5001C>G (p.Phe1667Leu) n.727C>G c.4932C>G (p.Phe1644Leu) c.4998C>G (p.Phe1666Leu) c.4923C>G (p.Phe1641Leu) n.2778C>G c.5055C>G (p.Phe1685Leu) c.4926C>G (p.Phe1642Leu) c.5051C>G n.3214C>G c.5124C>G (p.Phe1708Leu) n.3945C>G n.2382C>G n.2353C>G n.2243C>G c.4785C>G (p.Phe1595Leu) c.*4297C>G (n.*4297C>G) c.4821C>G (p.Phe1607Leu) n.2853C>G c.1312C>G n.2245C>G c.5184C>G (p.Phe1728Leu) c.5181C>G (p.Phe1727Leu) c.5073C>G (p.Phe1691Leu) c.5052C>G (p.Phe1684Leu) c.4398C>G (p.Phe1466Leu) c.5346C>G (p.Phe1782Leu) c.5094C>G (p.Phe1698Leu) c.3840C>G (p.Phe1280Leu) | ClinVar |
16 | g.2088109C>T | CA054016 | TSC2 | c.*3479C>T (n.*3479C>T) c.4977C>T (p.Phe1659=) c.5127C>T (p.Phe1709=) c.*5643C>T (n.*5643C>T) c.*7879C>T (n.*7879C>T) c.5130C>T (p.Phe1710=) c.5061C>T (p.Phe1687=) c.4929C>T (p.Phe1643=) c.4962C>T (p.Phe1654=) c.1353C>T n.3012C>T c.3784C>T c.5001C>T (p.Phe1667=) n.727C>T c.4932C>T (p.Phe1644=) c.4998C>T (p.Phe1666=) c.4923C>T (p.Phe1641=) n.2778C>T c.5055C>T (p.Phe1685=) c.4926C>T (p.Phe1642=) c.5051C>T n.3214C>T c.5124C>T (p.Phe1708=) n.3945C>T n.2382C>T n.2353C>T n.2243C>T c.4785C>T (p.Phe1595=) c.*4297C>T (n.*4297C>T) c.4821C>T (p.Phe1607=) n.2853C>T c.1312C>T n.2245C>T c.5184C>T (p.Phe1728=) c.5181C>T (p.Phe1727=) c.5073C>T (p.Phe1691=) c.5052C>T (p.Phe1684=) c.4398C>T (p.Phe1466=) c.5346C>T (p.Phe1782=) c.5094C>T (p.Phe1698=) c.3840C>T (p.Phe1280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088110G>A | CA021813 | TSC2 | c.*3480G>A (n.*3480G>A) c.4978G>A (p.Val1660Met) c.5128G>A (p.Val1710Met) c.*5644G>A (n.*5644G>A) c.*7880G>A (n.*7880G>A) c.5131G>A (p.Val1711Met) c.5062G>A (p.Val1688Met) c.4930G>A (p.Val1644Met) c.4963G>A (p.Val1655Met) c.1354G>A n.3013G>A c.3785G>A c.5002G>A (p.Val1668Met) n.728G>A c.4933G>A (p.Val1645Met) c.4999G>A (p.Val1667Met) c.4924G>A (p.Val1642Met) n.2779G>A c.5056G>A (p.Val1686Met) c.4927G>A (p.Val1643Met) c.5052G>A n.3215G>A c.5125G>A (p.Val1709Met) n.3946G>A n.2383G>A n.2354G>A n.2244G>A c.4786G>A (p.Val1596Met) c.*4298G>A (n.*4298G>A) c.4822G>A (p.Val1608Met) n.2854G>A c.1313G>A n.2246G>A c.5185G>A (p.Val1729Met) c.5182G>A (p.Val1728Met) c.5074G>A (p.Val1692Met) c.5053G>A (p.Val1685Met) c.4399G>A (p.Val1467Met) c.5347G>A (p.Val1783Met) c.5095G>A (p.Val1699Met) c.3841G>A (p.Val1281Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088110G>C | CA394312457 | TSC2 | c.*3480G>C (n.*3480G>C) c.4978G>C (p.Val1660Leu) c.5128G>C (p.Val1710Leu) c.*5644G>C (n.*5644G>C) c.*7880G>C (n.*7880G>C) c.5131G>C (p.Val1711Leu) c.5062G>C (p.Val1688Leu) c.4930G>C (p.Val1644Leu) c.4963G>C (p.Val1655Leu) c.1354G>C n.3013G>C c.3785G>C c.5002G>C (p.Val1668Leu) n.728G>C c.4933G>C (p.Val1645Leu) c.4999G>C (p.Val1667Leu) c.4924G>C (p.Val1642Leu) n.2779G>C c.5056G>C (p.Val1686Leu) c.4927G>C (p.Val1643Leu) c.5052G>C n.3215G>C c.5125G>C (p.Val1709Leu) n.3946G>C n.2383G>C n.2354G>C n.2244G>C c.4786G>C (p.Val1596Leu) c.*4298G>C (n.*4298G>C) c.4822G>C (p.Val1608Leu) n.2854G>C c.1313G>C n.2246G>C c.5185G>C (p.Val1729Leu) c.5182G>C (p.Val1728Leu) c.5074G>C (p.Val1692Leu) c.5053G>C (p.Val1685Leu) c.4399G>C (p.Val1467Leu) c.5347G>C (p.Val1783Leu) c.5095G>C (p.Val1699Leu) c.3841G>C (p.Val1281Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088110G= | CA2202030641 | TSC2 | c.*3480G= (n.*3480G=) c.4978G= (p.Val1660=) c.5128G= (p.Val1710=) c.*5644G= (n.*5644G=) c.*7880G= (n.*7880G=) c.5131G= (p.Val1711=) c.5062G= (p.Val1688=) c.4930G= (p.Val1644=) c.4963G= (p.Val1655=) c.1354G= n.3013G= c.3785G= c.5002G= (p.Val1668=) n.728G= c.4933G= (p.Val1645=) c.4999G= (p.Val1667=) c.4924G= (p.Val1642=) n.2779G= c.5056G= (p.Val1686=) c.4927G= (p.Val1643=) c.5052G= n.3215G= c.5125G= (p.Val1709=) n.3946G= n.2383G= n.2354G= n.2244G= c.4786G= (p.Val1596=) c.*4298G= (n.*4298G=) c.4822G= (p.Val1608=) n.2854G= c.1313G= n.2246G= c.5185G= (p.Val1729=) c.5182G= (p.Val1728=) c.5074G= (p.Val1692=) c.5053G= (p.Val1685=) c.4399G= (p.Val1467=) c.5347G= (p.Val1783=) c.5095G= (p.Val1699=) c.3841G= (p.Val1281=) | |
16 | g.2088110G>T | CA394312460 | TSC2 | c.*3480G>T (n.*3480G>T) c.4978G>T (p.Val1660Leu) c.5128G>T (p.Val1710Leu) c.*5644G>T (n.*5644G>T) c.*7880G>T (n.*7880G>T) c.5131G>T (p.Val1711Leu) c.5062G>T (p.Val1688Leu) c.4930G>T (p.Val1644Leu) c.4963G>T (p.Val1655Leu) c.1354G>T n.3013G>T c.3785G>T c.5002G>T (p.Val1668Leu) n.728G>T c.4933G>T (p.Val1645Leu) c.4999G>T (p.Val1667Leu) c.4924G>T (p.Val1642Leu) n.2779G>T c.5056G>T (p.Val1686Leu) c.4927G>T (p.Val1643Leu) c.5052G>T n.3215G>T c.5125G>T (p.Val1709Leu) n.3946G>T n.2383G>T n.2354G>T n.2244G>T c.4786G>T (p.Val1596Leu) c.*4298G>T (n.*4298G>T) c.4822G>T (p.Val1608Leu) n.2854G>T c.1313G>T n.2246G>T c.5185G>T (p.Val1729Leu) c.5182G>T (p.Val1728Leu) c.5074G>T (p.Val1692Leu) c.5053G>T (p.Val1685Leu) c.4399G>T (p.Val1467Leu) c.5347G>T (p.Val1783Leu) c.5095G>T (p.Val1699Leu) c.3841G>T (p.Val1281Leu) | dbSNP |
16 | g.2088110_2088122delinsGTGGCCCGCCAGA | CA2202030634 | TSC2 | c.*3480_*3492delinsGTGGCCCGCCAGA (n.*3480_*3492delinsGTGGCCCGCCAGA) c.4978_4990delinsGTGGCCCGCCAGA (p.Val1660=) c.5128_5140delinsGTGGCCCGCCAGA (p.Val1710=) c.*5644_*5656delinsGTGGCCCGCCAGA (n.*5644_*5656delinsGTGGCCCGCCAGA) c.*7880_*7892delinsGTGGCCCGCCAGA (n.*7880_*7892delinsGTGGCCCGCCAGA) c.5131_5143delinsGTGGCCCGCCAGA (p.Val1711=) c.5062_5074delinsGTGGCCCGCCAGA (p.Val1688=) c.4930_4942delinsGTGGCCCGCCAGA (p.Val1644=) c.4963_4975delinsGTGGCCCGCCAGA (p.Val1655=) c.1354_1366delinsGTGGCCCGCCAGA n.3013_3025delinsGTGGCCCGCCAGA c.3785_3797delinsGTGGCCCGCCAGA c.5002_5014delinsGTGGCCCGCCAGA (p.Val1668=) n.728_740delinsGTGGCCCGCCAGA c.4933_4945delinsGTGGCCCGCCAGA (p.Val1645=) c.4999_5011delinsGTGGCCCGCCAGA (p.Val1667=) c.4924_4936delinsGTGGCCCGCCAGA (p.Val1642=) n.2779_2791delinsGTGGCCCGCCAGA c.5056_5068delinsGTGGCCCGCCAGA (p.Val1686=) c.4927_4939delinsGTGGCCCGCCAGA (p.Val1643=) c.5052_5064delinsGTGGCCCGCCAGA n.3215_3227delinsGTGGCCCGCCAGA c.5125_5137delinsGTGGCCCGCCAGA (p.Val1709=) n.3946_3958delinsGTGGCCCGCCAGA n.2383_2395delinsGTGGCCCGCCAGA n.2354_2366delinsGTGGCCCGCCAGA n.2244_2256delinsGTGGCCCGCCAGA c.4786_4798delinsGTGGCCCGCCAGA (p.Val1596=) c.*4298_*4310delinsGTGGCCCGCCAGA (n.*4298_*4310delinsGTGGCCCGCCAGA) c.4822_4834delinsGTGGCCCGCCAGA (p.Val1608=) n.2854_2866delinsGTGGCCCGCCAGA c.1313_1325delinsGTGGCCCGCCAGA n.2246_2258delinsGTGGCCCGCCAGA c.5185_5197delinsGTGGCCCGCCAGA (p.Val1729=) c.5182_5194delinsGTGGCCCGCCAGA (p.Val1728=) c.5074_5086delinsGTGGCCCGCCAGA (p.Val1692=) c.5053_5065delinsGTGGCCCGCCAGA (p.Val1685=) c.4399_4411delinsGTGGCCCGCCAGA (p.Val1467=) c.5347_5359delinsGTGGCCCGCCAGA (p.Val1783=) c.5095_5107delinsGTGGCCCGCCAGA (p.Val1699=) c.3841_3853delinsGTGGCCCGCCAGA (p.Val1281=) | |
16 | g.2088111T>A | CA394312464 | TSC2 | c.*3481T>A (n.*3481T>A) c.4979T>A (p.Val1660Glu) c.5129T>A (p.Val1710Glu) c.*5645T>A (n.*5645T>A) c.*7881T>A (n.*7881T>A) c.5132T>A (p.Val1711Glu) c.5063T>A (p.Val1688Glu) c.4931T>A (p.Val1644Glu) c.4964T>A (p.Val1655Glu) c.1355T>A n.3014T>A c.3786T>A c.5003T>A (p.Val1668Glu) n.729T>A c.4934T>A (p.Val1645Glu) c.5000T>A (p.Val1667Glu) c.4925T>A (p.Val1642Glu) n.2780T>A c.5057T>A (p.Val1686Glu) c.4928T>A (p.Val1643Glu) c.5053T>A n.3216T>A c.5126T>A (p.Val1709Glu) n.3947T>A n.2384T>A n.2355T>A n.2245T>A c.4787T>A (p.Val1596Glu) c.*4299T>A (n.*4299T>A) c.4823T>A (p.Val1608Glu) n.2855T>A c.1314T>A n.2247T>A c.5186T>A (p.Val1729Glu) c.5183T>A (p.Val1728Glu) c.5075T>A (p.Val1692Glu) c.5054T>A (p.Val1685Glu) c.4400T>A (p.Val1467Glu) c.5348T>A (p.Val1783Glu) c.5096T>A (p.Val1699Glu) c.3842T>A (p.Val1281Glu) | dbSNP |
16 | g.2088111T>C | CA394312468 | TSC2 | c.*3481T>C (n.*3481T>C) c.4979T>C (p.Val1660Ala) c.5129T>C (p.Val1710Ala) c.*5645T>C (n.*5645T>C) c.*7881T>C (n.*7881T>C) c.5132T>C (p.Val1711Ala) c.5063T>C (p.Val1688Ala) c.4931T>C (p.Val1644Ala) c.4964T>C (p.Val1655Ala) c.1355T>C n.3014T>C c.3786T>C c.5003T>C (p.Val1668Ala) n.729T>C c.4934T>C (p.Val1645Ala) c.5000T>C (p.Val1667Ala) c.4925T>C (p.Val1642Ala) n.2780T>C c.5057T>C (p.Val1686Ala) c.4928T>C (p.Val1643Ala) c.5053T>C n.3216T>C c.5126T>C (p.Val1709Ala) n.3947T>C n.2384T>C n.2355T>C n.2245T>C c.4787T>C (p.Val1596Ala) c.*4299T>C (n.*4299T>C) c.4823T>C (p.Val1608Ala) n.2855T>C c.1314T>C n.2247T>C c.5186T>C (p.Val1729Ala) c.5183T>C (p.Val1728Ala) c.5075T>C (p.Val1692Ala) c.5054T>C (p.Val1685Ala) c.4400T>C (p.Val1467Ala) c.5348T>C (p.Val1783Ala) c.5096T>C (p.Val1699Ala) c.3842T>C (p.Val1281Ala) | |
16 | g.2088111T>G | CA394312472 | TSC2 | c.*3481T>G (n.*3481T>G) c.4979T>G (p.Val1660Gly) c.5129T>G (p.Val1710Gly) c.*5645T>G (n.*5645T>G) c.*7881T>G (n.*7881T>G) c.5132T>G (p.Val1711Gly) c.5063T>G (p.Val1688Gly) c.4931T>G (p.Val1644Gly) c.4964T>G (p.Val1655Gly) c.1355T>G n.3014T>G c.3786T>G c.5003T>G (p.Val1668Gly) n.729T>G c.4934T>G (p.Val1645Gly) c.5000T>G (p.Val1667Gly) c.4925T>G (p.Val1642Gly) n.2780T>G c.5057T>G (p.Val1686Gly) c.4928T>G (p.Val1643Gly) c.5053T>G n.3216T>G c.5126T>G (p.Val1709Gly) n.3947T>G n.2384T>G n.2355T>G n.2245T>G c.4787T>G (p.Val1596Gly) c.*4299T>G (n.*4299T>G) c.4823T>G (p.Val1608Gly) n.2855T>G c.1314T>G n.2247T>G c.5186T>G (p.Val1729Gly) c.5183T>G (p.Val1728Gly) c.5075T>G (p.Val1692Gly) c.5054T>G (p.Val1685Gly) c.4400T>G (p.Val1467Gly) c.5348T>G (p.Val1783Gly) c.5096T>G (p.Val1699Gly) c.3842T>G (p.Val1281Gly) | dbSNP |
16 | g.2088117_2088128del | CA16620104 | TSC2 | c.*3487_*3498del (n.*3487_*3498del) c.4985_4996del (p.Arg1662_Ala1665del) c.5135_5146del (p.Arg1712_Ala1715del) c.*5651_*5662del (n.*5651_*5662del) c.*7887_*7898del (n.*7887_*7898del) c.5138_5149del (p.Arg1713_Ala1716del) c.5069_5080del (p.Arg1690_Ala1693del) c.4937_4948del (p.Arg1646_Ala1649del) c.4970_4981del (p.Arg1657_Ala1660del) c.1361_1372del n.3020_3031del c.3792_3803del c.5009_5020del (p.Arg1670_Ala1673del) n.735_746del c.4940_4951del (p.Arg1647_Ala1650del) c.5006_5017del (p.Arg1669_Ala1672del) c.4931_4942del (p.Arg1644_Ala1647del) n.2786_2797del c.5063_5074del (p.Arg1688_Ala1691del) c.4934_4945del (p.Arg1645_Ala1648del) c.5059_5070del n.3222_3233del c.5132_5143del (p.Arg1711_Ala1714del) n.3953_3964del n.2390_2401del n.2361_2372del n.2251_2262del c.4793_4804del (p.Arg1598_Ala1601del) c.*4305_*4316del (n.*4305_*4316del) c.4829_4840del (p.Arg1610_Ala1613del) n.2861_2872del c.1320_1331del n.2253_2264del c.5192_5203del (p.Arg1731_Ala1734del) c.5189_5200del (p.Arg1730_Ala1733del) c.5081_5092del (p.Arg1694_Ala1697del) c.5060_5071del (p.Arg1687_Ala1690del) c.4406_4417del (p.Arg1469_Ala1472del) c.5354_5365del (p.Arg1785_Ala1788del) c.5102_5113del (p.Arg1701_Ala1704del) c.3848_3859del (p.Arg1283_Ala1286del) | ClinVar dbSNP |
16 | g.2088112G>A | CA493043672 | TSC2 | c.*3482G>A (n.*3482G>A) c.4980G>A (p.Val1660=) c.5130G>A (p.Val1710=) c.*5646G>A (n.*5646G>A) c.*7882G>A (n.*7882G>A) c.5133G>A (p.Val1711=) c.5064G>A (p.Val1688=) c.4932G>A (p.Val1644=) c.4965G>A (p.Val1655=) c.1356G>A n.3015G>A c.3787G>A c.5004G>A (p.Val1668=) n.730G>A c.4935G>A (p.Val1645=) c.5001G>A (p.Val1667=) c.4926G>A (p.Val1642=) n.2781G>A c.5058G>A (p.Val1686=) c.4929G>A (p.Val1643=) c.5054G>A n.3217G>A c.5127G>A (p.Val1709=) n.3948G>A n.2385G>A n.2356G>A n.2246G>A c.4788G>A (p.Val1596=) c.*4300G>A (n.*4300G>A) c.4824G>A (p.Val1608=) n.2856G>A c.1315G>A n.2248G>A c.5187G>A (p.Val1729=) c.5184G>A (p.Val1728=) c.5076G>A (p.Val1692=) c.5055G>A (p.Val1685=) c.4401G>A (p.Val1467=) c.5349G>A (p.Val1783=) c.5097G>A (p.Val1699=) c.3843G>A (p.Val1281=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.2088112G>C | CA493043673 | TSC2 | c.*3482G>C (n.*3482G>C) c.4980G>C (p.Val1660=) c.5130G>C (p.Val1710=) c.*5646G>C (n.*5646G>C) c.*7882G>C (n.*7882G>C) c.5133G>C (p.Val1711=) c.5064G>C (p.Val1688=) c.4932G>C (p.Val1644=) c.4965G>C (p.Val1655=) c.1356G>C n.3015G>C c.3787G>C c.5004G>C (p.Val1668=) n.730G>C c.4935G>C (p.Val1645=) c.5001G>C (p.Val1667=) c.4926G>C (p.Val1642=) n.2781G>C c.5058G>C (p.Val1686=) c.4929G>C (p.Val1643=) c.5054G>C n.3217G>C c.5127G>C (p.Val1709=) n.3948G>C n.2385G>C n.2356G>C n.2246G>C c.4788G>C (p.Val1596=) c.*4300G>C (n.*4300G>C) c.4824G>C (p.Val1608=) n.2856G>C c.1315G>C n.2248G>C c.5187G>C (p.Val1729=) c.5184G>C (p.Val1728=) c.5076G>C (p.Val1692=) c.5055G>C (p.Val1685=) c.4401G>C (p.Val1467=) c.5349G>C (p.Val1783=) c.5097G>C (p.Val1699=) c.3843G>C (p.Val1281=) | dbSNP |
16 | g.2088112G= | CA2202030649 | TSC2 | c.*3482G= (n.*3482G=) c.4980G= (p.Val1660=) c.5130G= (p.Val1710=) c.*5646G= (n.*5646G=) c.*7882G= (n.*7882G=) c.5133G= (p.Val1711=) c.5064G= (p.Val1688=) c.4932G= (p.Val1644=) c.4965G= (p.Val1655=) c.1356G= n.3015G= c.3787G= c.5004G= (p.Val1668=) n.730G= c.4935G= (p.Val1645=) c.5001G= (p.Val1667=) c.4926G= (p.Val1642=) n.2781G= c.5058G= (p.Val1686=) c.4929G= (p.Val1643=) c.5054G= n.3217G= c.5127G= (p.Val1709=) n.3948G= n.2385G= n.2356G= n.2246G= c.4788G= (p.Val1596=) c.*4300G= (n.*4300G=) c.4824G= (p.Val1608=) n.2856G= c.1315G= n.2248G= c.5187G= (p.Val1729=) c.5184G= (p.Val1728=) c.5076G= (p.Val1692=) c.5055G= (p.Val1685=) c.4401G= (p.Val1467=) c.5349G= (p.Val1783=) c.5097G= (p.Val1699=) c.3843G= (p.Val1281=) | |
16 | g.2088112G>T | CA493043674 | TSC2 | c.*3482G>T (n.*3482G>T) c.4980G>T (p.Val1660=) c.5130G>T (p.Val1710=) c.*5646G>T (n.*5646G>T) c.*7882G>T (n.*7882G>T) c.5133G>T (p.Val1711=) c.5064G>T (p.Val1688=) c.4932G>T (p.Val1644=) c.4965G>T (p.Val1655=) c.1356G>T n.3015G>T c.3787G>T c.5004G>T (p.Val1668=) n.730G>T c.4935G>T (p.Val1645=) c.5001G>T (p.Val1667=) c.4926G>T (p.Val1642=) n.2781G>T c.5058G>T (p.Val1686=) c.4929G>T (p.Val1643=) c.5054G>T n.3217G>T c.5127G>T (p.Val1709=) n.3948G>T n.2385G>T n.2356G>T n.2246G>T c.4788G>T (p.Val1596=) c.*4300G>T (n.*4300G>T) c.4824G>T (p.Val1608=) n.2856G>T c.1315G>T n.2248G>T c.5187G>T (p.Val1729=) c.5184G>T (p.Val1728=) c.5076G>T (p.Val1692=) c.5055G>T (p.Val1685=) c.4401G>T (p.Val1467=) c.5349G>T (p.Val1783=) c.5097G>T (p.Val1699=) c.3843G>T (p.Val1281=) | dbSNP |
16 | g.2088113G>A | CA394312476 | TSC2 | c.*3483G>A (n.*3483G>A) c.4981G>A (p.Ala1661Thr) c.5131G>A (p.Ala1711Thr) c.*5647G>A (n.*5647G>A) c.*7883G>A (n.*7883G>A) c.5134G>A (p.Ala1712Thr) c.5065G>A (p.Ala1689Thr) c.4933G>A (p.Ala1645Thr) c.4966G>A (p.Ala1656Thr) c.1357G>A n.3016G>A c.3788G>A c.5005G>A (p.Ala1669Thr) n.731G>A c.4936G>A (p.Ala1646Thr) c.5002G>A (p.Ala1668Thr) c.4927G>A (p.Ala1643Thr) n.2782G>A c.5059G>A (p.Ala1687Thr) c.4930G>A (p.Ala1644Thr) c.5055G>A n.3218G>A c.5128G>A (p.Ala1710Thr) n.3949G>A n.2386G>A n.2357G>A n.2247G>A c.4789G>A (p.Ala1597Thr) c.*4301G>A (n.*4301G>A) c.4825G>A (p.Ala1609Thr) n.2857G>A c.1316G>A n.2249G>A c.5188G>A (p.Ala1730Thr) c.5185G>A (p.Ala1729Thr) c.5077G>A (p.Ala1693Thr) c.5056G>A (p.Ala1686Thr) c.4402G>A (p.Ala1468Thr) c.5350G>A (p.Ala1784Thr) c.5098G>A (p.Ala1700Thr) c.3844G>A (p.Ala1282Thr) | ClinVar dbSNP gnomAD v4 |
16 | g.2088113G>C | CA394312478 | TSC2 | c.*3483G>C (n.*3483G>C) c.4981G>C (p.Ala1661Pro) c.5131G>C (p.Ala1711Pro) c.*5647G>C (n.*5647G>C) c.*7883G>C (n.*7883G>C) c.5134G>C (p.Ala1712Pro) c.5065G>C (p.Ala1689Pro) c.4933G>C (p.Ala1645Pro) c.4966G>C (p.Ala1656Pro) c.1357G>C n.3016G>C c.3788G>C c.5005G>C (p.Ala1669Pro) n.731G>C c.4936G>C (p.Ala1646Pro) c.5002G>C (p.Ala1668Pro) c.4927G>C (p.Ala1643Pro) n.2782G>C c.5059G>C (p.Ala1687Pro) c.4930G>C (p.Ala1644Pro) c.5055G>C n.3218G>C c.5128G>C (p.Ala1710Pro) n.3949G>C n.2386G>C n.2357G>C n.2247G>C c.4789G>C (p.Ala1597Pro) c.*4301G>C (n.*4301G>C) c.4825G>C (p.Ala1609Pro) n.2857G>C c.1316G>C n.2249G>C c.5188G>C (p.Ala1730Pro) c.5185G>C (p.Ala1729Pro) c.5077G>C (p.Ala1693Pro) c.5056G>C (p.Ala1686Pro) c.4402G>C (p.Ala1468Pro) c.5350G>C (p.Ala1784Pro) c.5098G>C (p.Ala1700Pro) c.3844G>C (p.Ala1282Pro) | dbSNP |
16 | g.2088113G= | CA2202030658 | TSC2 | c.*3483G= (n.*3483G=) c.4981G= (p.Ala1661=) c.5131G= (p.Ala1711=) c.*5647G= (n.*5647G=) c.*7883G= (n.*7883G=) c.5134G= (p.Ala1712=) c.5065G= (p.Ala1689=) c.4933G= (p.Ala1645=) c.4966G= (p.Ala1656=) c.1357G= n.3016G= c.3788G= c.5005G= (p.Ala1669=) n.731G= c.4936G= (p.Ala1646=) c.5002G= (p.Ala1668=) c.4927G= (p.Ala1643=) n.2782G= c.5059G= (p.Ala1687=) c.4930G= (p.Ala1644=) c.5055G= n.3218G= c.5128G= (p.Ala1710=) n.3949G= n.2386G= n.2357G= n.2247G= c.4789G= (p.Ala1597=) c.*4301G= (n.*4301G=) c.4825G= (p.Ala1609=) n.2857G= c.1316G= n.2249G= c.5188G= (p.Ala1730=) c.5185G= (p.Ala1729=) c.5077G= (p.Ala1693=) c.5056G= (p.Ala1686=) c.4402G= (p.Ala1468=) c.5350G= (p.Ala1784=) c.5098G= (p.Ala1700=) c.3844G= (p.Ala1282=) | |
16 | g.2088113G>T | CA394312481 | TSC2 | c.*3483G>T (n.*3483G>T) c.4981G>T (p.Ala1661Ser) c.5131G>T (p.Ala1711Ser) c.*5647G>T (n.*5647G>T) c.*7883G>T (n.*7883G>T) c.5134G>T (p.Ala1712Ser) c.5065G>T (p.Ala1689Ser) c.4933G>T (p.Ala1645Ser) c.4966G>T (p.Ala1656Ser) c.1357G>T n.3016G>T c.3788G>T c.5005G>T (p.Ala1669Ser) n.731G>T c.4936G>T (p.Ala1646Ser) c.5002G>T (p.Ala1668Ser) c.4927G>T (p.Ala1643Ser) n.2782G>T c.5059G>T (p.Ala1687Ser) c.4930G>T (p.Ala1644Ser) c.5055G>T n.3218G>T c.5128G>T (p.Ala1710Ser) n.3949G>T n.2386G>T n.2357G>T n.2247G>T c.4789G>T (p.Ala1597Ser) c.*4301G>T (n.*4301G>T) c.4825G>T (p.Ala1609Ser) n.2857G>T c.1316G>T n.2249G>T c.5188G>T (p.Ala1730Ser) c.5185G>T (p.Ala1729Ser) c.5077G>T (p.Ala1693Ser) c.5056G>T (p.Ala1686Ser) c.4402G>T (p.Ala1468Ser) c.5350G>T (p.Ala1784Ser) c.5098G>T (p.Ala1700Ser) c.3844G>T (p.Ala1282Ser) | dbSNP |
16 | g.2088113_2088114delinsTA | CA2695221745 | TSC2 | c.*3483_*3484delinsTA (n.*3483_*3484delinsTA) c.4981_4982delinsTA (p.Ala1661Tyr) c.5131_5132delinsTA (p.Ala1711Tyr) c.*5647_*5648delinsTA (n.*5647_*5648delinsTA) c.*7883_*7884delinsTA (n.*7883_*7884delinsTA) c.5134_5135delinsTA (p.Ala1712Tyr) c.5065_5066delinsTA (p.Ala1689Tyr) c.4933_4934delinsTA (p.Ala1645Tyr) c.4966_4967delinsTA (p.Ala1656Tyr) c.1357_1358delinsTA n.3016_3017delinsTA c.3788_3789delinsTA c.5005_5006delinsTA (p.Ala1669Tyr) n.731_732delinsTA c.4936_4937delinsTA (p.Ala1646Tyr) c.5002_5003delinsTA (p.Ala1668Tyr) c.4927_4928delinsTA (p.Ala1643Tyr) n.2782_2783delinsTA c.5059_5060delinsTA (p.Ala1687Tyr) c.4930_4931delinsTA (p.Ala1644Tyr) c.5055_5056delinsTA n.3218_3219delinsTA c.5128_5129delinsTA (p.Ala1710Tyr) n.3949_3950delinsTA n.2386_2387delinsTA n.2357_2358delinsTA n.2247_2248delinsTA c.4789_4790delinsTA (p.Ala1597Tyr) c.*4301_*4302delinsTA (n.*4301_*4302delinsTA) c.4825_4826delinsTA (p.Ala1609Tyr) n.2857_2858delinsTA c.1316_1317delinsTA n.2249_2250delinsTA c.5188_5189delinsTA (p.Ala1730Tyr) c.5185_5186delinsTA (p.Ala1729Tyr) c.5077_5078delinsTA (p.Ala1693Tyr) c.5056_5057delinsTA (p.Ala1686Tyr) c.4402_4403delinsTA (p.Ala1468Tyr) c.5350_5351delinsTA (p.Ala1784Tyr) c.5098_5099delinsTA (p.Ala1700Tyr) c.3844_3845delinsTA (p.Ala1282Tyr) | |
16 | g.2088113_2088115delinsGCC | CA2202030657 | TSC2 | c.*3483_*3485delinsGCC (n.*3483_*3485delinsGCC) c.4981_4983delinsGCC (p.Ala1661=) c.5131_5133delinsGCC (p.Ala1711=) c.*5647_*5649delinsGCC (n.*5647_*5649delinsGCC) c.*7883_*7885delinsGCC (n.*7883_*7885delinsGCC) c.5134_5136delinsGCC (p.Ala1712=) c.5065_5067delinsGCC (p.Ala1689=) c.4933_4935delinsGCC (p.Ala1645=) c.4966_4968delinsGCC (p.Ala1656=) c.1357_1359delinsGCC n.3016_3018delinsGCC c.3788_3790delinsGCC c.5005_5007delinsGCC (p.Ala1669=) n.731_733delinsGCC c.4936_4938delinsGCC (p.Ala1646=) c.5002_5004delinsGCC (p.Ala1668=) c.4927_4929delinsGCC (p.Ala1643=) n.2782_2784delinsGCC c.5059_5061delinsGCC (p.Ala1687=) c.4930_4932delinsGCC (p.Ala1644=) c.5055_5057delinsGCC n.3218_3220delinsGCC c.5128_5130delinsGCC (p.Ala1710=) n.3949_3951delinsGCC n.2386_2388delinsGCC n.2357_2359delinsGCC n.2247_2249delinsGCC c.4789_4791delinsGCC (p.Ala1597=) c.*4301_*4303delinsGCC (n.*4301_*4303delinsGCC) c.4825_4827delinsGCC (p.Ala1609=) n.2857_2859delinsGCC c.1316_1318delinsGCC n.2249_2251delinsGCC c.5188_5190delinsGCC (p.Ala1730=) c.5185_5187delinsGCC (p.Ala1729=) c.5077_5079delinsGCC (p.Ala1693=) c.5056_5058delinsGCC (p.Ala1686=) c.4402_4404delinsGCC (p.Ala1468=) c.5350_5352delinsGCC (p.Ala1784=) c.5098_5100delinsGCC (p.Ala1700=) c.3844_3846delinsGCC (p.Ala1282=) | |
16 | g.2088116_2088119del | CA2840918598 | TSC2 | c.*3486_*3489del (n.*3486_*3489del) c.4984_4987del (p.Gln1663TrpfsTer?) c.5134_5137del (p.Gln1713TrpfsTer?) c.*5650_*5653del (n.*5650_*5653del) c.*7886_*7889del (n.*7886_*7889del) c.5137_5140del (p.Gln1714TrpfsTer?) c.5068_5071del (p.Gln1691TrpfsTer?) c.4936_4939del (p.Gln1647TrpfsTer?) c.4969_4972del (p.Gln1658TrpfsTer?) c.1360_1363del n.3019_3022del c.3791_3794del c.5008_5011del (p.Gln1671TrpfsTer?) n.734_737del c.4939_4942del (p.Gln1648TrpfsTer?) c.5005_5008del (p.Gln1670TrpfsTer?) c.4930_4933del (p.Gln1645TrpfsTer?) n.2785_2788del c.5062_5065del (p.Gln1689TrpfsTer?) c.4936_4939del (p.Gln1647TrpfsTer7) c.4933_4936del (p.Gln1646TrpfsTer?) c.5058_5061del n.3221_3224del c.5131_5134del (p.Gln1712TrpfsTer?) n.3952_3955del n.2389_2392del n.2360_2363del n.2250_2253del c.4792_4795del (p.Gln1599TrpfsTer?) c.*4304_*4307del (n.*4304_*4307del) c.4828_4831del (p.Gln1611TrpfsTer?) n.2860_2863del c.1319_1322del n.2252_2255del c.5191_5194del (p.Gln1732TrpfsTer?) c.5188_5191del (p.Gln1731TrpfsTer?) c.5080_5083del (p.Gln1695TrpfsTer?) c.5059_5062del (p.Gln1688TrpfsTer?) c.4405_4408del (p.Gln1470TrpfsTer?) c.5353_5356del (p.Gln1786TrpfsTer?) c.5101_5104del (p.Gln1702TrpfsTer?) c.3847_3850del (p.Gln1284TrpfsTer?) | |
16 | g.2088114C>A | CA021820 | TSC2 | c.*3484C>A (n.*3484C>A) c.4982C>A (p.Ala1661Asp) c.5132C>A (p.Ala1711Asp) c.*5648C>A (n.*5648C>A) c.*7884C>A (n.*7884C>A) c.5135C>A (p.Ala1712Asp) c.5066C>A (p.Ala1689Asp) c.4934C>A (p.Ala1645Asp) c.4967C>A (p.Ala1656Asp) c.1358C>A n.3017C>A c.3789C>A c.5006C>A (p.Ala1669Asp) n.732C>A c.4937C>A (p.Ala1646Asp) c.5003C>A (p.Ala1668Asp) c.4928C>A (p.Ala1643Asp) n.2783C>A c.5060C>A (p.Ala1687Asp) c.4931C>A (p.Ala1644Asp) c.5056C>A n.3219C>A c.5129C>A (p.Ala1710Asp) n.3950C>A n.2387C>A n.2358C>A n.2248C>A c.4790C>A (p.Ala1597Asp) c.*4302C>A (n.*4302C>A) c.4826C>A (p.Ala1609Asp) n.2858C>A c.1317C>A n.2250C>A c.5189C>A (p.Ala1730Asp) c.5186C>A (p.Ala1729Asp) c.5078C>A (p.Ala1693Asp) c.5057C>A (p.Ala1686Asp) c.4403C>A (p.Ala1468Asp) c.5351C>A (p.Ala1784Asp) c.5099C>A (p.Ala1700Asp) c.3845C>A (p.Ala1282Asp) | ClinVar dbSNP |
16 | g.2088114C= | CA2202030675 | TSC2 | c.*3484C= (n.*3484C=) c.4982C= (p.Ala1661=) c.5132C= (p.Ala1711=) c.*5648C= (n.*5648C=) c.*7884C= (n.*7884C=) c.5135C= (p.Ala1712=) c.5066C= (p.Ala1689=) c.4934C= (p.Ala1645=) c.4967C= (p.Ala1656=) c.1358C= n.3017C= c.3789C= c.5006C= (p.Ala1669=) n.732C= c.4937C= (p.Ala1646=) c.5003C= (p.Ala1668=) c.4928C= (p.Ala1643=) n.2783C= c.5060C= (p.Ala1687=) c.4931C= (p.Ala1644=) c.5056C= n.3219C= c.5129C= (p.Ala1710=) n.3950C= n.2387C= n.2358C= n.2248C= c.4790C= (p.Ala1597=) c.*4302C= (n.*4302C=) c.4826C= (p.Ala1609=) n.2858C= c.1317C= n.2250C= c.5189C= (p.Ala1730=) c.5186C= (p.Ala1729=) c.5078C= (p.Ala1693=) c.5057C= (p.Ala1686=) c.4403C= (p.Ala1468=) c.5351C= (p.Ala1784=) c.5099C= (p.Ala1700=) c.3845C= (p.Ala1282=) | |
16 | g.2088114C>G | CA394312487 | TSC2 | c.*3484C>G (n.*3484C>G) c.4982C>G (p.Ala1661Gly) c.5132C>G (p.Ala1711Gly) c.*5648C>G (n.*5648C>G) c.*7884C>G (n.*7884C>G) c.5135C>G (p.Ala1712Gly) c.5066C>G (p.Ala1689Gly) c.4934C>G (p.Ala1645Gly) c.4967C>G (p.Ala1656Gly) c.1358C>G n.3017C>G c.3789C>G c.5006C>G (p.Ala1669Gly) n.732C>G c.4937C>G (p.Ala1646Gly) c.5003C>G (p.Ala1668Gly) c.4928C>G (p.Ala1643Gly) n.2783C>G c.5060C>G (p.Ala1687Gly) c.4931C>G (p.Ala1644Gly) c.5056C>G n.3219C>G c.5129C>G (p.Ala1710Gly) n.3950C>G n.2387C>G n.2358C>G n.2248C>G c.4790C>G (p.Ala1597Gly) c.*4302C>G (n.*4302C>G) c.4826C>G (p.Ala1609Gly) n.2858C>G c.1317C>G n.2250C>G c.5189C>G (p.Ala1730Gly) c.5186C>G (p.Ala1729Gly) c.5078C>G (p.Ala1693Gly) c.5057C>G (p.Ala1686Gly) c.4403C>G (p.Ala1468Gly) c.5351C>G (p.Ala1784Gly) c.5099C>G (p.Ala1700Gly) c.3845C>G (p.Ala1282Gly) | COSMIC COSMIC |
16 | g.2088114C>T | CA054027 | TSC2 | c.*3484C>T (n.*3484C>T) c.4982C>T (p.Ala1661Val) c.5132C>T (p.Ala1711Val) c.*5648C>T (n.*5648C>T) c.*7884C>T (n.*7884C>T) c.5135C>T (p.Ala1712Val) c.5066C>T (p.Ala1689Val) c.4934C>T (p.Ala1645Val) c.4967C>T (p.Ala1656Val) c.1358C>T n.3017C>T c.3789C>T c.5006C>T (p.Ala1669Val) n.732C>T c.4937C>T (p.Ala1646Val) c.5003C>T (p.Ala1668Val) c.4928C>T (p.Ala1643Val) n.2783C>T c.5060C>T (p.Ala1687Val) c.4931C>T (p.Ala1644Val) c.5056C>T n.3219C>T c.5129C>T (p.Ala1710Val) n.3950C>T n.2387C>T n.2358C>T n.2248C>T c.4790C>T (p.Ala1597Val) c.*4302C>T (n.*4302C>T) c.4826C>T (p.Ala1609Val) n.2858C>T c.1317C>T n.2250C>T c.5189C>T (p.Ala1730Val) c.5186C>T (p.Ala1729Val) c.5078C>T (p.Ala1693Val) c.5057C>T (p.Ala1686Val) c.4403C>T (p.Ala1468Val) c.5351C>T (p.Ala1784Val) c.5099C>T (p.Ala1700Val) c.3845C>T (p.Ala1282Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.2088116del | CA021834 | TSC2 | c.*3486del (n.*3486del) c.4984del (p.Arg1662AlafsTer?) c.5134del (p.Arg1712AlafsTer?) c.*5650del (n.*5650del) c.*7886del (n.*7886del) c.5137del (p.Arg1713AlafsTer?) c.5068del (p.Arg1690AlafsTer?) c.4936del (p.Arg1646AlafsTer?) c.4969del (p.Arg1657AlafsTer?) c.1360del n.3019del c.3791del c.5008del (p.Arg1670AlafsTer?) n.734del c.4939del (p.Arg1647AlafsTer?) c.5005del (p.Arg1669AlafsTer?) c.4930del (p.Arg1644AlafsTer?) n.2785del c.5062del (p.Arg1688AlafsTer?) c.4936del (p.Arg1646AlafsTer9) c.4933del (p.Arg1645AlafsTer?) c.5058del n.3221del c.5131del (p.Arg1711AlafsTer?) n.3952del n.2389del n.2360del n.2250del c.4792del (p.Arg1598AlafsTer?) c.*4304del (n.*4304del) c.4828del (p.Arg1610AlafsTer?) n.2860del c.1319del n.2252del c.5191del (p.Arg1731AlafsTer?) c.5188del (p.Arg1730AlafsTer?) c.5080del (p.Arg1694AlafsTer?) c.5059del (p.Arg1687AlafsTer?) c.4405del (p.Arg1469AlafsTer?) c.5353del (p.Arg1785AlafsTer?) c.5101del (p.Arg1701AlafsTer?) c.3847del (p.Arg1283AlafsTer?) | ClinVar dbSNP |
16 | g.2088115_2088116del | CA021825 | TSC2 | c.*3485_*3486del (n.*3485_*3486del) c.4983_4984del (p.Arg1662ProfsTer15) c.5133_5134del (p.Arg1712ProfsTer15) c.*5649_*5650del (n.*5649_*5650del) c.*7885_*7886del (n.*7885_*7886del) c.5136_5137del (p.Arg1713ProfsTer15) c.5067_5068del (p.Arg1690ProfsTer15) c.4935_4936del (p.Arg1646ProfsTer15) c.4968_4969del (p.Arg1657ProfsTer15) c.1359_1360del n.3018_3019del c.3790_3791del c.5007_5008del (p.Arg1670ProfsTer11) n.733_734del c.4938_4939del (p.Arg1647ProfsTer15) c.5004_5005del (p.Arg1669ProfsTer15) c.4929_4930del (p.Arg1644ProfsTer15) n.2784_2785del c.5061_5062del (p.Arg1688ProfsTer15) c.5007_5008del (p.Arg1670ProfsTer15) c.4935_4936del (p.Arg1646ProfsTer16) c.4932_4933del (p.Arg1645ProfsTer15) c.5057_5058del n.3220_3221del c.5130_5131del (p.Arg1711ProfsTer15) n.3951_3952del n.2388_2389del n.2359_2360del n.2249_2250del c.4791_4792del (p.Arg1598ProfsTer15) c.*4303_*4304del (n.*4303_*4304del) c.4827_4828del (p.Arg1610ProfsTer15) n.2859_2860del c.1318_1319del n.2251_2252del c.5190_5191del (p.Arg1731ProfsTer15) c.5187_5188del (p.Arg1730ProfsTer15) c.5079_5080del (p.Arg1694ProfsTer15) c.5058_5059del (p.Arg1687ProfsTer15) c.4404_4405del (p.Arg1469ProfsTer15) c.5352_5353del (p.Arg1785ProfsTer15) c.5100_5101del (p.Arg1701ProfsTer15) c.3846_3847del (p.Arg1283ProfsTer15) | ClinVar dbSNP |
16 | g.2088115C>A | CA493043677 | TSC2 | c.*3485C>A (n.*3485C>A) c.4983C>A (p.Ala1661=) c.5133C>A (p.Ala1711=) c.*5649C>A (n.*5649C>A) c.*7885C>A (n.*7885C>A) c.5136C>A (p.Ala1712=) c.5067C>A (p.Ala1689=) c.4935C>A (p.Ala1645=) c.4968C>A (p.Ala1656=) c.1359C>A n.3018C>A c.3790C>A c.5007C>A (p.Ala1669=) n.733C>A c.4938C>A (p.Ala1646=) c.5004C>A (p.Ala1668=) c.4929C>A (p.Ala1643=) n.2784C>A c.5061C>A (p.Ala1687=) c.4932C>A (p.Ala1644=) c.5057C>A n.3220C>A c.5130C>A (p.Ala1710=) n.3951C>A n.2388C>A n.2359C>A n.2249C>A c.4791C>A (p.Ala1597=) c.*4303C>A (n.*4303C>A) c.4827C>A (p.Ala1609=) n.2859C>A c.1318C>A n.2251C>A c.5190C>A (p.Ala1730=) c.5187C>A (p.Ala1729=) c.5079C>A (p.Ala1693=) c.5058C>A (p.Ala1686=) c.4404C>A (p.Ala1468=) c.5352C>A (p.Ala1784=) c.5100C>A (p.Ala1700=) c.3846C>A (p.Ala1282=) | dbSNP |
16 | g.2088115C= | CA2202030687 | TSC2 | c.*3485C= (n.*3485C=) c.4983C= (p.Ala1661=) c.5133C= (p.Ala1711=) c.*5649C= (n.*5649C=) c.*7885C= (n.*7885C=) c.5136C= (p.Ala1712=) c.5067C= (p.Ala1689=) c.4935C= (p.Ala1645=) c.4968C= (p.Ala1656=) c.1359C= n.3018C= c.3790C= c.5007C= (p.Ala1669=) n.733C= c.4938C= (p.Ala1646=) c.5004C= (p.Ala1668=) c.4929C= (p.Ala1643=) n.2784C= c.5061C= (p.Ala1687=) c.4932C= (p.Ala1644=) c.5057C= n.3220C= c.5130C= (p.Ala1710=) n.3951C= n.2388C= n.2359C= n.2249C= c.4791C= (p.Ala1597=) c.*4303C= (n.*4303C=) c.4827C= (p.Ala1609=) n.2859C= c.1318C= n.2251C= c.5190C= (p.Ala1730=) c.5187C= (p.Ala1729=) c.5079C= (p.Ala1693=) c.5058C= (p.Ala1686=) c.4404C= (p.Ala1468=) c.5352C= (p.Ala1784=) c.5100C= (p.Ala1700=) c.3846C= (p.Ala1282=) | |
16 | g.2088115C>G | CA493043679 | TSC2 | c.*3485C>G (n.*3485C>G) c.4983C>G (p.Ala1661=) c.5133C>G (p.Ala1711=) c.*5649C>G (n.*5649C>G) c.*7885C>G (n.*7885C>G) c.5136C>G (p.Ala1712=) c.5067C>G (p.Ala1689=) c.4935C>G (p.Ala1645=) c.4968C>G (p.Ala1656=) c.1359C>G n.3018C>G c.3790C>G c.5007C>G (p.Ala1669=) n.733C>G c.4938C>G (p.Ala1646=) c.5004C>G (p.Ala1668=) c.4929C>G (p.Ala1643=) n.2784C>G c.5061C>G (p.Ala1687=) c.4932C>G (p.Ala1644=) c.5057C>G n.3220C>G c.5130C>G (p.Ala1710=) n.3951C>G n.2388C>G n.2359C>G n.2249C>G c.4791C>G (p.Ala1597=) c.*4303C>G (n.*4303C>G) c.4827C>G (p.Ala1609=) n.2859C>G c.1318C>G n.2251C>G c.5190C>G (p.Ala1730=) c.5187C>G (p.Ala1729=) c.5079C>G (p.Ala1693=) c.5058C>G (p.Ala1686=) c.4404C>G (p.Ala1468=) c.5352C>G (p.Ala1784=) c.5100C>G (p.Ala1700=) c.3846C>G (p.Ala1282=) | dbSNP |
16 | g.2088115C>T | CA10583342 | TSC2 | c.*3485C>T (n.*3485C>T) c.4983C>T (p.Ala1661=) c.5133C>T (p.Ala1711=) c.*5649C>T (n.*5649C>T) c.*7885C>T (n.*7885C>T) c.5136C>T (p.Ala1712=) c.5067C>T (p.Ala1689=) c.4935C>T (p.Ala1645=) c.4968C>T (p.Ala1656=) c.1359C>T n.3018C>T c.3790C>T c.5007C>T (p.Ala1669=) n.733C>T c.4938C>T (p.Ala1646=) c.5004C>T (p.Ala1668=) c.4929C>T (p.Ala1643=) n.2784C>T c.5061C>T (p.Ala1687=) c.4932C>T (p.Ala1644=) c.5057C>T n.3220C>T c.5130C>T (p.Ala1710=) n.3951C>T n.2388C>T n.2359C>T n.2249C>T c.4791C>T (p.Ala1597=) c.*4303C>T (n.*4303C>T) c.4827C>T (p.Ala1609=) n.2859C>T c.1318C>T n.2251C>T c.5190C>T (p.Ala1730=) c.5187C>T (p.Ala1729=) c.5079C>T (p.Ala1693=) c.5058C>T (p.Ala1686=) c.4404C>T (p.Ala1468=) c.5352C>T (p.Ala1784=) c.5100C>T (p.Ala1700=) c.3846C>T (p.Ala1282=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
16 | g.2088116C>A | CA16621548 | TSC2 | c.*3486C>A (n.*3486C>A) c.4984C>A (p.Arg1662Ser) c.5134C>A (p.Arg1712Ser) c.*5650C>A (n.*5650C>A) c.*7886C>A (n.*7886C>A) c.5137C>A (p.Arg1713Ser) c.5068C>A (p.Arg1690Ser) c.4936C>A (p.Arg1646Ser) c.4969C>A (p.Arg1657Ser) c.1360C>A n.3019C>A c.3791C>A c.5008C>A (p.Arg1670Ser) n.734C>A c.4939C>A (p.Arg1647Ser) c.5005C>A (p.Arg1669Ser) c.4930C>A (p.Arg1644Ser) n.2785C>A c.5062C>A (p.Arg1688Ser) c.4933C>A (p.Arg1645Ser) c.5058C>A n.3221C>A c.5131C>A (p.Arg1711Ser) n.3952C>A n.2389C>A n.2360C>A n.2250C>A c.4792C>A (p.Arg1598Ser) c.*4304C>A (n.*4304C>A) c.4828C>A (p.Arg1610Ser) n.2860C>A c.1319C>A n.2252C>A c.5191C>A (p.Arg1731Ser) c.5188C>A (p.Arg1730Ser) c.5080C>A (p.Arg1694Ser) c.5059C>A (p.Arg1687Ser) c.4405C>A (p.Arg1469Ser) c.5353C>A (p.Arg1785Ser) c.5101C>A (p.Arg1701Ser) c.3847C>A (p.Arg1283Ser) | ClinVar dbSNP |
16 | g.2088116C= | CA2202030699 | TSC2 | c.*3486C= (n.*3486C=) c.4984C= (p.Arg1662=) c.5134C= (p.Arg1712=) c.*5650C= (n.*5650C=) c.*7886C= (n.*7886C=) c.5137C= (p.Arg1713=) c.5068C= (p.Arg1690=) c.4936C= (p.Arg1646=) c.4969C= (p.Arg1657=) c.1360C= n.3019C= c.3791C= c.5008C= (p.Arg1670=) n.734C= c.4939C= (p.Arg1647=) c.5005C= (p.Arg1669=) c.4930C= (p.Arg1644=) n.2785C= c.5062C= (p.Arg1688=) c.4933C= (p.Arg1645=) c.5058C= n.3221C= c.5131C= (p.Arg1711=) n.3952C= n.2389C= n.2360C= n.2250C= c.4792C= (p.Arg1598=) c.*4304C= (n.*4304C=) c.4828C= (p.Arg1610=) n.2860C= c.1319C= n.2252C= c.5191C= (p.Arg1731=) c.5188C= (p.Arg1730=) c.5080C= (p.Arg1694=) c.5059C= (p.Arg1687=) c.4405C= (p.Arg1469=) c.5353C= (p.Arg1785=) c.5101C= (p.Arg1701=) c.3847C= (p.Arg1283=) | |
16 | g.2088116C>G | CA394312510 | TSC2 | c.*3486C>G (n.*3486C>G) c.4984C>G (p.Arg1662Gly) c.5134C>G (p.Arg1712Gly) c.*5650C>G (n.*5650C>G) c.*7886C>G (n.*7886C>G) c.5137C>G (p.Arg1713Gly) c.5068C>G (p.Arg1690Gly) c.4936C>G (p.Arg1646Gly) c.4969C>G (p.Arg1657Gly) c.1360C>G n.3019C>G c.3791C>G c.5008C>G (p.Arg1670Gly) n.734C>G c.4939C>G (p.Arg1647Gly) c.5005C>G (p.Arg1669Gly) c.4930C>G (p.Arg1644Gly) n.2785C>G c.5062C>G (p.Arg1688Gly) c.4933C>G (p.Arg1645Gly) c.5058C>G n.3221C>G c.5131C>G (p.Arg1711Gly) n.3952C>G n.2389C>G n.2360C>G n.2250C>G c.4792C>G (p.Arg1598Gly) c.*4304C>G (n.*4304C>G) c.4828C>G (p.Arg1610Gly) n.2860C>G c.1319C>G n.2252C>G c.5191C>G (p.Arg1731Gly) c.5188C>G (p.Arg1730Gly) c.5080C>G (p.Arg1694Gly) c.5059C>G (p.Arg1687Gly) c.4405C>G (p.Arg1469Gly) c.5353C>G (p.Arg1785Gly) c.5101C>G (p.Arg1701Gly) c.3847C>G (p.Arg1283Gly) | dbSNP |
16 | g.2088116C>T | CA054033 | TSC2 | c.*3486C>T (n.*3486C>T) c.4984C>T (p.Arg1662Cys) c.5134C>T (p.Arg1712Cys) c.*5650C>T (n.*5650C>T) c.*7886C>T (n.*7886C>T) c.5137C>T (p.Arg1713Cys) c.5068C>T (p.Arg1690Cys) c.4936C>T (p.Arg1646Cys) c.4969C>T (p.Arg1657Cys) c.1360C>T n.3019C>T c.3791C>T c.5008C>T (p.Arg1670Cys) n.734C>T c.4939C>T (p.Arg1647Cys) c.5005C>T (p.Arg1669Cys) c.4930C>T (p.Arg1644Cys) n.2785C>T c.5062C>T (p.Arg1688Cys) c.4933C>T (p.Arg1645Cys) c.5058C>T n.3221C>T c.5131C>T (p.Arg1711Cys) n.3952C>T n.2389C>T n.2360C>T n.2250C>T c.4792C>T (p.Arg1598Cys) c.*4304C>T (n.*4304C>T) c.4828C>T (p.Arg1610Cys) n.2860C>T c.1319C>T n.2252C>T c.5191C>T (p.Arg1731Cys) c.5188C>T (p.Arg1730Cys) c.5080C>T (p.Arg1694Cys) c.5059C>T (p.Arg1687Cys) c.4405C>T (p.Arg1469Cys) c.5353C>T (p.Arg1785Cys) c.5101C>T (p.Arg1701Cys) c.3847C>T (p.Arg1283Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088117G>A | CA021840 | TSC2 | c.*3487G>A (n.*3487G>A) c.4985G>A (p.Arg1662His) c.5135G>A (p.Arg1712His) c.*5651G>A (n.*5651G>A) c.*7887G>A (n.*7887G>A) c.5138G>A (p.Arg1713His) c.5069G>A (p.Arg1690His) c.4937G>A (p.Arg1646His) c.4970G>A (p.Arg1657His) c.1361G>A n.3020G>A c.3792G>A c.5009G>A (p.Arg1670His) n.735G>A c.4940G>A (p.Arg1647His) c.5006G>A (p.Arg1669His) c.4931G>A (p.Arg1644His) n.2786G>A c.5063G>A (p.Arg1688His) c.4934G>A (p.Arg1645His) c.5059G>A n.3222G>A c.5132G>A (p.Arg1711His) n.3953G>A n.2390G>A n.2361G>A n.2251G>A c.4793G>A (p.Arg1598His) c.*4305G>A (n.*4305G>A) c.4829G>A (p.Arg1610His) n.2861G>A c.1320G>A n.2253G>A c.5192G>A (p.Arg1731His) c.5189G>A (p.Arg1730His) c.5081G>A (p.Arg1694His) c.5060G>A (p.Arg1687His) c.4406G>A (p.Arg1469His) c.5354G>A (p.Arg1785His) c.5102G>A (p.Arg1701His) c.3848G>A (p.Arg1283His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.2088117G>C | CA021846 | TSC2 | c.*3487G>C (n.*3487G>C) c.4985G>C (p.Arg1662Pro) c.5135G>C (p.Arg1712Pro) c.*5651G>C (n.*5651G>C) c.*7887G>C (n.*7887G>C) c.5138G>C (p.Arg1713Pro) c.5069G>C (p.Arg1690Pro) c.4937G>C (p.Arg1646Pro) c.4970G>C (p.Arg1657Pro) c.1361G>C n.3020G>C c.3792G>C c.5009G>C (p.Arg1670Pro) n.735G>C c.4940G>C (p.Arg1647Pro) c.5006G>C (p.Arg1669Pro) c.4931G>C (p.Arg1644Pro) n.2786G>C c.5063G>C (p.Arg1688Pro) c.4934G>C (p.Arg1645Pro) c.5059G>C n.3222G>C c.5132G>C (p.Arg1711Pro) n.3953G>C n.2390G>C n.2361G>C n.2251G>C c.4793G>C (p.Arg1598Pro) c.*4305G>C (n.*4305G>C) c.4829G>C (p.Arg1610Pro) n.2861G>C c.1320G>C n.2253G>C c.5192G>C (p.Arg1731Pro) c.5189G>C (p.Arg1730Pro) c.5081G>C (p.Arg1694Pro) c.5060G>C (p.Arg1687Pro) c.4406G>C (p.Arg1469Pro) c.5354G>C (p.Arg1785Pro) c.5102G>C (p.Arg1701Pro) c.3848G>C (p.Arg1283Pro) | ClinVar dbSNP |
16 | g.2088117G= | CA2202030712 | TSC2 | c.*3487G= (n.*3487G=) c.4985G= (p.Arg1662=) c.5135G= (p.Arg1712=) c.*5651G= (n.*5651G=) c.*7887G= (n.*7887G=) c.5138G= (p.Arg1713=) c.5069G= (p.Arg1690=) c.4937G= (p.Arg1646=) c.4970G= (p.Arg1657=) c.1361G= n.3020G= c.3792G= c.5009G= (p.Arg1670=) n.735G= c.4940G= (p.Arg1647=) c.5006G= (p.Arg1669=) c.4931G= (p.Arg1644=) n.2786G= c.5063G= (p.Arg1688=) c.4934G= (p.Arg1645=) c.5059G= n.3222G= c.5132G= (p.Arg1711=) n.3953G= n.2390G= n.2361G= n.2251G= c.4793G= (p.Arg1598=) c.*4305G= (n.*4305G=) c.4829G= (p.Arg1610=) n.2861G= c.1320G= n.2253G= c.5192G= (p.Arg1731=) c.5189G= (p.Arg1730=) c.5081G= (p.Arg1694=) c.5060G= (p.Arg1687=) c.4406G= (p.Arg1469=) c.5354G= (p.Arg1785=) c.5102G= (p.Arg1701=) c.3848G= (p.Arg1283=) | |
16 | g.2088117G>T | CA394312517 | TSC2 | c.*3487G>T (n.*3487G>T) c.4985G>T (p.Arg1662Leu) c.5135G>T (p.Arg1712Leu) c.*5651G>T (n.*5651G>T) c.*7887G>T (n.*7887G>T) c.5138G>T (p.Arg1713Leu) c.5069G>T (p.Arg1690Leu) c.4937G>T (p.Arg1646Leu) c.4970G>T (p.Arg1657Leu) c.1361G>T n.3020G>T c.3792G>T c.5009G>T (p.Arg1670Leu) n.735G>T c.4940G>T (p.Arg1647Leu) c.5006G>T (p.Arg1669Leu) c.4931G>T (p.Arg1644Leu) n.2786G>T c.5063G>T (p.Arg1688Leu) c.4934G>T (p.Arg1645Leu) c.5059G>T n.3222G>T c.5132G>T (p.Arg1711Leu) n.3953G>T n.2390G>T n.2361G>T n.2251G>T c.4793G>T (p.Arg1598Leu) c.*4305G>T (n.*4305G>T) c.4829G>T (p.Arg1610Leu) n.2861G>T c.1320G>T n.2253G>T c.5192G>T (p.Arg1731Leu) c.5189G>T (p.Arg1730Leu) c.5081G>T (p.Arg1694Leu) c.5060G>T (p.Arg1687Leu) c.4406G>T (p.Arg1469Leu) c.5354G>T (p.Arg1785Leu) c.5102G>T (p.Arg1701Leu) c.3848G>T (p.Arg1283Leu) | ClinVar |
16 | g.2088117_2088118delinsGC | CA2202030716 | TSC2 | c.*3487_*3488delinsGC (n.*3487_*3488delinsGC) c.4985_4986delinsGC (p.Arg1662=) c.5135_5136delinsGC (p.Arg1712=) c.*5651_*5652delinsGC (n.*5651_*5652delinsGC) c.*7887_*7888delinsGC (n.*7887_*7888delinsGC) c.5138_5139delinsGC (p.Arg1713=) c.5069_5070delinsGC (p.Arg1690=) c.4937_4938delinsGC (p.Arg1646=) c.4970_4971delinsGC (p.Arg1657=) c.1361_1362delinsGC n.3020_3021delinsGC c.3792_3793delinsGC c.5009_5010delinsGC (p.Arg1670=) n.735_736delinsGC c.4940_4941delinsGC (p.Arg1647=) c.5006_5007delinsGC (p.Arg1669=) c.4931_4932delinsGC (p.Arg1644=) n.2786_2787delinsGC c.5063_5064delinsGC (p.Arg1688=) c.4934_4935delinsGC (p.Arg1645=) c.5059_5060delinsGC n.3222_3223delinsGC c.5132_5133delinsGC (p.Arg1711=) n.3953_3954delinsGC n.2390_2391delinsGC n.2361_2362delinsGC n.2251_2252delinsGC c.4793_4794delinsGC (p.Arg1598=) c.*4305_*4306delinsGC (n.*4305_*4306delinsGC) c.4829_4830delinsGC (p.Arg1610=) n.2861_2862delinsGC c.1320_1321delinsGC n.2253_2254delinsGC c.5192_5193delinsGC (p.Arg1731=) c.5189_5190delinsGC (p.Arg1730=) c.5081_5082delinsGC (p.Arg1694=) c.5060_5061delinsGC (p.Arg1687=) c.4406_4407delinsGC (p.Arg1469=) c.5354_5355delinsGC (p.Arg1785=) c.5102_5103delinsGC (p.Arg1701=) c.3848_3849delinsGC (p.Arg1283=) | |
16 | g.2088118C>A | CA276759019 | TSC2 | c.*3488C>A (n.*3488C>A) c.4986C>A (p.Arg1662=) c.5136C>A (p.Arg1712=) c.*5652C>A (n.*5652C>A) c.*7888C>A (n.*7888C>A) c.5139C>A (p.Arg1713=) c.5070C>A (p.Arg1690=) c.4938C>A (p.Arg1646=) c.4971C>A (p.Arg1657=) c.1362C>A n.3021C>A c.3793C>A c.5010C>A (p.Arg1670=) n.736C>A c.4941C>A (p.Arg1647=) c.5007C>A (p.Arg1669=) c.4932C>A (p.Arg1644=) n.2787C>A c.5064C>A (p.Arg1688=) c.4935C>A (p.Arg1645=) c.5060C>A n.3223C>A c.5133C>A (p.Arg1711=) n.3954C>A n.2391C>A n.2362C>A n.2252C>A c.4794C>A (p.Arg1598=) c.*4306C>A (n.*4306C>A) c.4830C>A (p.Arg1610=) n.2862C>A c.1321C>A n.2254C>A c.5193C>A (p.Arg1731=) c.5190C>A (p.Arg1730=) c.5082C>A (p.Arg1694=) c.5061C>A (p.Arg1687=) c.4407C>A (p.Arg1469=) c.5355C>A (p.Arg1785=) c.5103C>A (p.Arg1701=) c.3849C>A (p.Arg1283=) | ClinVar dbSNP |
16 | g.2088118C= | CA2202030734 | TSC2 | c.*3488C= (n.*3488C=) c.4986C= (p.Arg1662=) c.5136C= (p.Arg1712=) c.*5652C= (n.*5652C=) c.*7888C= (n.*7888C=) c.5139C= (p.Arg1713=) c.5070C= (p.Arg1690=) c.4938C= (p.Arg1646=) c.4971C= (p.Arg1657=) c.1362C= n.3021C= c.3793C= c.5010C= (p.Arg1670=) n.736C= c.4941C= (p.Arg1647=) c.5007C= (p.Arg1669=) c.4932C= (p.Arg1644=) n.2787C= c.5064C= (p.Arg1688=) c.4935C= (p.Arg1645=) c.5060C= n.3223C= c.5133C= (p.Arg1711=) n.3954C= n.2391C= n.2362C= n.2252C= c.4794C= (p.Arg1598=) c.*4306C= (n.*4306C=) c.4830C= (p.Arg1610=) n.2862C= c.1321C= n.2254C= c.5193C= (p.Arg1731=) c.5190C= (p.Arg1730=) c.5082C= (p.Arg1694=) c.5061C= (p.Arg1687=) c.4407C= (p.Arg1469=) c.5355C= (p.Arg1785=) c.5103C= (p.Arg1701=) c.3849C= (p.Arg1283=) | |
16 | g.2088118C>G | CA493043684 | TSC2 | c.*3488C>G (n.*3488C>G) c.4986C>G (p.Arg1662=) c.5136C>G (p.Arg1712=) c.*5652C>G (n.*5652C>G) c.*7888C>G (n.*7888C>G) c.5139C>G (p.Arg1713=) c.5070C>G (p.Arg1690=) c.4938C>G (p.Arg1646=) c.4971C>G (p.Arg1657=) c.1362C>G n.3021C>G c.3793C>G c.5010C>G (p.Arg1670=) n.736C>G c.4941C>G (p.Arg1647=) c.5007C>G (p.Arg1669=) c.4932C>G (p.Arg1644=) n.2787C>G c.5064C>G (p.Arg1688=) c.4935C>G (p.Arg1645=) c.5060C>G n.3223C>G c.5133C>G (p.Arg1711=) n.3954C>G n.2391C>G n.2362C>G n.2252C>G c.4794C>G (p.Arg1598=) c.*4306C>G (n.*4306C>G) c.4830C>G (p.Arg1610=) n.2862C>G c.1321C>G n.2254C>G c.5193C>G (p.Arg1731=) c.5190C>G (p.Arg1730=) c.5082C>G (p.Arg1694=) c.5061C>G (p.Arg1687=) c.4407C>G (p.Arg1469=) c.5355C>G (p.Arg1785=) c.5103C>G (p.Arg1701=) c.3849C>G (p.Arg1283=) | |
16 | g.2088118C>T | CA054043 | TSC2 | c.*3488C>T (n.*3488C>T) c.4986C>T (p.Arg1662=) c.5136C>T (p.Arg1712=) c.*5652C>T (n.*5652C>T) c.*7888C>T (n.*7888C>T) c.5139C>T (p.Arg1713=) c.5070C>T (p.Arg1690=) c.4938C>T (p.Arg1646=) c.4971C>T (p.Arg1657=) c.1362C>T n.3021C>T c.3793C>T c.5010C>T (p.Arg1670=) n.736C>T c.4941C>T (p.Arg1647=) c.5007C>T (p.Arg1669=) c.4932C>T (p.Arg1644=) n.2787C>T c.5064C>T (p.Arg1688=) c.4935C>T (p.Arg1645=) c.5060C>T n.3223C>T c.5133C>T (p.Arg1711=) n.3954C>T n.2391C>T n.2362C>T n.2252C>T c.4794C>T (p.Arg1598=) c.*4306C>T (n.*4306C>T) c.4830C>T (p.Arg1610=) n.2862C>T c.1321C>T n.2254C>T c.5193C>T (p.Arg1731=) c.5190C>T (p.Arg1730=) c.5082C>T (p.Arg1694=) c.5061C>T (p.Arg1687=) c.4407C>T (p.Arg1469=) c.5355C>T (p.Arg1785=) c.5103C>T (p.Arg1701=) c.3849C>T (p.Arg1283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088119del | CA10583343 | TSC2 | c.*3489del (n.*3489del) c.4987del (p.Gln1663ArgfsTer?) c.5137del (p.Gln1713ArgfsTer?) c.*5653del (n.*5653del) c.*7889del (n.*7889del) c.5140del (p.Gln1714ArgfsTer?) c.5071del (p.Gln1691ArgfsTer?) c.4939del (p.Gln1647ArgfsTer?) c.4972del (p.Gln1658ArgfsTer?) c.1363del n.3022del c.3794del c.5011del (p.Gln1671ArgfsTer?) n.737del c.4942del (p.Gln1648ArgfsTer?) c.5008del (p.Gln1670ArgfsTer?) c.4933del (p.Gln1645ArgfsTer?) n.2788del c.5065del (p.Gln1689ArgfsTer?) c.4939del (p.Gln1647ArgfsTer8) c.4936del (p.Gln1646ArgfsTer?) c.5061del n.3224del c.5134del (p.Gln1712ArgfsTer?) n.3955del n.2392del n.2363del n.2253del c.4795del (p.Gln1599ArgfsTer?) c.*4307del (n.*4307del) c.4831del (p.Gln1611ArgfsTer?) n.2863del c.1322del n.2255del c.5194del (p.Gln1732ArgfsTer?) c.5191del (p.Gln1731ArgfsTer?) c.5083del (p.Gln1695ArgfsTer?) c.5062del (p.Gln1688ArgfsTer?) c.4408del (p.Gln1470ArgfsTer?) c.5356del (p.Gln1786ArgfsTer?) c.5104del (p.Gln1702ArgfsTer?) c.3850del (p.Gln1284ArgfsTer?) | ClinVar dbSNP |
16 | g.2088119C>A | CA394312532 | TSC2 | c.*3489C>A (n.*3489C>A) c.4987C>A (p.Gln1663Lys) c.5137C>A (p.Gln1713Lys) c.*5653C>A (n.*5653C>A) c.*7889C>A (n.*7889C>A) c.5140C>A (p.Gln1714Lys) c.5071C>A (p.Gln1691Lys) c.4939C>A (p.Gln1647Lys) c.4972C>A (p.Gln1658Lys) c.1363C>A n.3022C>A c.3794C>A c.5011C>A (p.Gln1671Lys) n.737C>A c.4942C>A (p.Gln1648Lys) c.5008C>A (p.Gln1670Lys) c.4933C>A (p.Gln1645Lys) n.2788C>A c.5065C>A (p.Gln1689Lys) c.4936C>A (p.Gln1646Lys) c.5061C>A n.3224C>A c.5134C>A (p.Gln1712Lys) n.3955C>A n.2392C>A n.2363C>A n.2253C>A c.4795C>A (p.Gln1599Lys) c.*4307C>A (n.*4307C>A) c.4831C>A (p.Gln1611Lys) n.2863C>A c.1322C>A n.2255C>A c.5194C>A (p.Gln1732Lys) c.5191C>A (p.Gln1731Lys) c.5083C>A (p.Gln1695Lys) c.5062C>A (p.Gln1688Lys) c.4408C>A (p.Gln1470Lys) c.5356C>A (p.Gln1786Lys) c.5104C>A (p.Gln1702Lys) c.3850C>A (p.Gln1284Lys) | dbSNP |
16 | g.2088119C= | CA2202030741 | TSC2 | c.*3489C= (n.*3489C=) c.4987C= (p.Gln1663=) c.5137C= (p.Gln1713=) c.*5653C= (n.*5653C=) c.*7889C= (n.*7889C=) c.5140C= (p.Gln1714=) c.5071C= (p.Gln1691=) c.4939C= (p.Gln1647=) c.4972C= (p.Gln1658=) c.1363C= n.3022C= c.3794C= c.5011C= (p.Gln1671=) n.737C= c.4942C= (p.Gln1648=) c.5008C= (p.Gln1670=) c.4933C= (p.Gln1645=) n.2788C= c.5065C= (p.Gln1689=) c.4936C= (p.Gln1646=) c.5061C= n.3224C= c.5134C= (p.Gln1712=) n.3955C= n.2392C= n.2363C= n.2253C= c.4795C= (p.Gln1599=) c.*4307C= (n.*4307C=) c.4831C= (p.Gln1611=) n.2863C= c.1322C= n.2255C= c.5194C= (p.Gln1732=) c.5191C= (p.Gln1731=) c.5083C= (p.Gln1695=) c.5062C= (p.Gln1688=) c.4408C= (p.Gln1470=) c.5356C= (p.Gln1786=) c.5104C= (p.Gln1702=) c.3850C= (p.Gln1284=) | |
16 | g.2088119C>G | CA394312536 | TSC2 | c.*3489C>G (n.*3489C>G) c.4987C>G (p.Gln1663Glu) c.5137C>G (p.Gln1713Glu) c.*5653C>G (n.*5653C>G) c.*7889C>G (n.*7889C>G) c.5140C>G (p.Gln1714Glu) c.5071C>G (p.Gln1691Glu) c.4939C>G (p.Gln1647Glu) c.4972C>G (p.Gln1658Glu) c.1363C>G n.3022C>G c.3794C>G c.5011C>G (p.Gln1671Glu) n.737C>G c.4942C>G (p.Gln1648Glu) c.5008C>G (p.Gln1670Glu) c.4933C>G (p.Gln1645Glu) n.2788C>G c.5065C>G (p.Gln1689Glu) c.4936C>G (p.Gln1646Glu) c.5061C>G n.3224C>G c.5134C>G (p.Gln1712Glu) n.3955C>G n.2392C>G n.2363C>G n.2253C>G c.4795C>G (p.Gln1599Glu) c.*4307C>G (n.*4307C>G) c.4831C>G (p.Gln1611Glu) n.2863C>G c.1322C>G n.2255C>G c.5194C>G (p.Gln1732Glu) c.5191C>G (p.Gln1731Glu) c.5083C>G (p.Gln1695Glu) c.5062C>G (p.Gln1688Glu) c.4408C>G (p.Gln1470Glu) c.5356C>G (p.Gln1786Glu) c.5104C>G (p.Gln1702Glu) c.3850C>G (p.Gln1284Glu) | dbSNP |
16 | g.2088119C>T | CA021852 | TSC2 | c.*3489C>T (n.*3489C>T) c.4987C>T (p.Gln1663Ter) c.5137C>T (p.Gln1713Ter) c.*5653C>T (n.*5653C>T) c.*7889C>T (n.*7889C>T) c.5140C>T (p.Gln1714Ter) c.5071C>T (p.Gln1691Ter) c.4939C>T (p.Gln1647Ter) c.4972C>T (p.Gln1658Ter) c.1363C>T n.3022C>T c.3794C>T c.5011C>T (p.Gln1671Ter) n.737C>T c.4942C>T (p.Gln1648Ter) c.5008C>T (p.Gln1670Ter) c.4933C>T (p.Gln1645Ter) n.2788C>T c.5065C>T (p.Gln1689Ter) c.4936C>T (p.Gln1646Ter) c.5061C>T n.3224C>T c.5134C>T (p.Gln1712Ter) n.3955C>T n.2392C>T n.2363C>T n.2253C>T c.4795C>T (p.Gln1599Ter) c.*4307C>T (n.*4307C>T) c.4831C>T (p.Gln1611Ter) n.2863C>T c.1322C>T n.2255C>T c.5194C>T (p.Gln1732Ter) c.5191C>T (p.Gln1731Ter) c.5083C>T (p.Gln1695Ter) c.5062C>T (p.Gln1688Ter) c.4408C>T (p.Gln1470Ter) c.5356C>T (p.Gln1786Ter) c.5104C>T (p.Gln1702Ter) c.3850C>T (p.Gln1284Ter) | ClinVar dbSNP |
16 | g.2088120A>C | CA394312547 | TSC2 | c.*3490A>C (n.*3490A>C) c.4988A>C (p.Gln1663Pro) c.5138A>C (p.Gln1713Pro) c.*5654A>C (n.*5654A>C) c.*7890A>C (n.*7890A>C) c.5141A>C (p.Gln1714Pro) c.5072A>C (p.Gln1691Pro) c.4940A>C (p.Gln1647Pro) c.4973A>C (p.Gln1658Pro) c.1364A>C n.3023A>C c.3795A>C c.5012A>C (p.Gln1671Pro) n.738A>C c.4943A>C (p.Gln1648Pro) c.5009A>C (p.Gln1670Pro) c.4934A>C (p.Gln1645Pro) n.2789A>C c.5066A>C (p.Gln1689Pro) c.4937A>C (p.Gln1646Pro) c.5062A>C n.3225A>C c.5135A>C (p.Gln1712Pro) n.3956A>C n.2393A>C n.2364A>C n.2254A>C c.4796A>C (p.Gln1599Pro) c.*4308A>C (n.*4308A>C) c.4832A>C (p.Gln1611Pro) n.2864A>C c.1323A>C n.2256A>C c.5195A>C (p.Gln1732Pro) c.5192A>C (p.Gln1731Pro) c.5084A>C (p.Gln1695Pro) c.5063A>C (p.Gln1688Pro) c.4409A>C (p.Gln1470Pro) c.5357A>C (p.Gln1786Pro) c.5105A>C (p.Gln1702Pro) c.3851A>C (p.Gln1284Pro) | |
16 | g.2088120A>G | CA394312541 | TSC2 | c.*3490A>G (n.*3490A>G) c.4988A>G (p.Gln1663Arg) c.5138A>G (p.Gln1713Arg) c.*5654A>G (n.*5654A>G) c.*7890A>G (n.*7890A>G) c.5141A>G (p.Gln1714Arg) c.5072A>G (p.Gln1691Arg) c.4940A>G (p.Gln1647Arg) c.4973A>G (p.Gln1658Arg) c.1364A>G n.3023A>G c.3795A>G c.5012A>G (p.Gln1671Arg) n.738A>G c.4943A>G (p.Gln1648Arg) c.5009A>G (p.Gln1670Arg) c.4934A>G (p.Gln1645Arg) n.2789A>G c.5066A>G (p.Gln1689Arg) c.4937A>G (p.Gln1646Arg) c.5062A>G n.3225A>G c.5135A>G (p.Gln1712Arg) n.3956A>G n.2393A>G n.2364A>G n.2254A>G c.4796A>G (p.Gln1599Arg) c.*4308A>G (n.*4308A>G) c.4832A>G (p.Gln1611Arg) n.2864A>G c.1323A>G n.2256A>G c.5195A>G (p.Gln1732Arg) c.5192A>G (p.Gln1731Arg) c.5084A>G (p.Gln1695Arg) c.5063A>G (p.Gln1688Arg) c.4409A>G (p.Gln1470Arg) c.5357A>G (p.Gln1786Arg) c.5105A>G (p.Gln1702Arg) c.3851A>G (p.Gln1284Arg) | ClinVar dbSNP COSMIC COSMIC |
16 | g.2088120A>T | CA394312543 | TSC2 | c.*3490A>T (n.*3490A>T) c.4988A>T (p.Gln1663Leu) c.5138A>T (p.Gln1713Leu) c.*5654A>T (n.*5654A>T) c.*7890A>T (n.*7890A>T) c.5141A>T (p.Gln1714Leu) c.5072A>T (p.Gln1691Leu) c.4940A>T (p.Gln1647Leu) c.4973A>T (p.Gln1658Leu) c.1364A>T n.3023A>T c.3795A>T c.5012A>T (p.Gln1671Leu) n.738A>T c.4943A>T (p.Gln1648Leu) c.5009A>T (p.Gln1670Leu) c.4934A>T (p.Gln1645Leu) n.2789A>T c.5066A>T (p.Gln1689Leu) c.4937A>T (p.Gln1646Leu) c.5062A>T n.3225A>T c.5135A>T (p.Gln1712Leu) n.3956A>T n.2393A>T n.2364A>T n.2254A>T c.4796A>T (p.Gln1599Leu) c.*4308A>T (n.*4308A>T) c.4832A>T (p.Gln1611Leu) n.2864A>T c.1323A>T n.2256A>T c.5195A>T (p.Gln1732Leu) c.5192A>T (p.Gln1731Leu) c.5084A>T (p.Gln1695Leu) c.5063A>T (p.Gln1688Leu) c.4409A>T (p.Gln1470Leu) c.5357A>T (p.Gln1786Leu) c.5105A>T (p.Gln1702Leu) c.3851A>T (p.Gln1284Leu) | dbSNP gnomAD v4 |
16 | g.2088121G>A | CA054054 | TSC2 | c.*3491G>A (n.*3491G>A) c.4989G>A (p.Gln1663=) c.5139G>A (p.Gln1713=) c.*5655G>A (n.*5655G>A) c.*7891G>A (n.*7891G>A) c.5142G>A (p.Gln1714=) c.5073G>A (p.Gln1691=) c.4941G>A (p.Gln1647=) c.4974G>A (p.Gln1658=) c.1365G>A n.3024G>A c.3796G>A c.5013G>A (p.Gln1671=) n.739G>A c.4944G>A (p.Gln1648=) c.5010G>A (p.Gln1670=) c.4935G>A (p.Gln1645=) n.2790G>A c.5067G>A (p.Gln1689=) c.4938G>A (p.Gln1646=) c.5063G>A n.3226G>A c.5136G>A (p.Gln1712=) n.3957G>A n.2394G>A n.2365G>A n.2255G>A c.4797G>A (p.Gln1599=) c.*4309G>A (n.*4309G>A) c.4833G>A (p.Gln1611=) n.2865G>A c.1324G>A n.2257G>A c.5196G>A (p.Gln1732=) c.5193G>A (p.Gln1731=) c.5085G>A (p.Gln1695=) c.5064G>A (p.Gln1688=) c.4410G>A (p.Gln1470=) c.5358G>A (p.Gln1786=) c.5106G>A (p.Gln1702=) c.3852G>A (p.Gln1284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088121G>C | CA394312551 | TSC2 | c.*3491G>C (n.*3491G>C) c.4989G>C (p.Gln1663His) c.5139G>C (p.Gln1713His) c.*5655G>C (n.*5655G>C) c.*7891G>C (n.*7891G>C) c.5142G>C (p.Gln1714His) c.5073G>C (p.Gln1691His) c.4941G>C (p.Gln1647His) c.4974G>C (p.Gln1658His) c.1365G>C n.3024G>C c.3796G>C c.5013G>C (p.Gln1671His) n.739G>C c.4944G>C (p.Gln1648His) c.5010G>C (p.Gln1670His) c.4935G>C (p.Gln1645His) n.2790G>C c.5067G>C (p.Gln1689His) c.4938G>C (p.Gln1646His) c.5063G>C n.3226G>C c.5136G>C (p.Gln1712His) n.3957G>C n.2394G>C n.2365G>C n.2255G>C c.4797G>C (p.Gln1599His) c.*4309G>C (n.*4309G>C) c.4833G>C (p.Gln1611His) n.2865G>C c.1324G>C n.2257G>C c.5196G>C (p.Gln1732His) c.5193G>C (p.Gln1731His) c.5085G>C (p.Gln1695His) c.5064G>C (p.Gln1688His) c.4410G>C (p.Gln1470His) c.5358G>C (p.Gln1786His) c.5106G>C (p.Gln1702His) c.3852G>C (p.Gln1284His) | dbSNP |
16 | g.2088121G= | CA2202030748 | TSC2 | c.*3491G= (n.*3491G=) c.4989G= (p.Gln1663=) c.5139G= (p.Gln1713=) c.*5655G= (n.*5655G=) c.*7891G= (n.*7891G=) c.5142G= (p.Gln1714=) c.5073G= (p.Gln1691=) c.4941G= (p.Gln1647=) c.4974G= (p.Gln1658=) c.1365G= n.3024G= c.3796G= c.5013G= (p.Gln1671=) n.739G= c.4944G= (p.Gln1648=) c.5010G= (p.Gln1670=) c.4935G= (p.Gln1645=) n.2790G= c.5067G= (p.Gln1689=) c.4938G= (p.Gln1646=) c.5063G= n.3226G= c.5136G= (p.Gln1712=) n.3957G= n.2394G= n.2365G= n.2255G= c.4797G= (p.Gln1599=) c.*4309G= (n.*4309G=) c.4833G= (p.Gln1611=) n.2865G= c.1324G= n.2257G= c.5196G= (p.Gln1732=) c.5193G= (p.Gln1731=) c.5085G= (p.Gln1695=) c.5064G= (p.Gln1688=) c.4410G= (p.Gln1470=) c.5358G= (p.Gln1786=) c.5106G= (p.Gln1702=) c.3852G= (p.Gln1284=) | |
16 | g.2088121G>T | CA394312553 | TSC2 | c.*3491G>T (n.*3491G>T) c.4989G>T (p.Gln1663His) c.5139G>T (p.Gln1713His) c.*5655G>T (n.*5655G>T) c.*7891G>T (n.*7891G>T) c.5142G>T (p.Gln1714His) c.5073G>T (p.Gln1691His) c.4941G>T (p.Gln1647His) c.4974G>T (p.Gln1658His) c.1365G>T n.3024G>T c.3796G>T c.5013G>T (p.Gln1671His) n.739G>T c.4944G>T (p.Gln1648His) c.5010G>T (p.Gln1670His) c.4935G>T (p.Gln1645His) n.2790G>T c.5067G>T (p.Gln1689His) c.4938G>T (p.Gln1646His) c.5063G>T n.3226G>T c.5136G>T (p.Gln1712His) n.3957G>T n.2394G>T n.2365G>T n.2255G>T c.4797G>T (p.Gln1599His) c.*4309G>T (n.*4309G>T) c.4833G>T (p.Gln1611His) n.2865G>T c.1324G>T n.2257G>T c.5196G>T (p.Gln1732His) c.5193G>T (p.Gln1731His) c.5085G>T (p.Gln1695His) c.5064G>T (p.Gln1688His) c.4410G>T (p.Gln1470His) c.5358G>T (p.Gln1786His) c.5106G>T (p.Gln1702His) c.3852G>T (p.Gln1284His) | |
16 | g.2088122A= | CA2202030760 | TSC2 | c.*3492A= (n.*3492A=) c.4990A= (p.Met1664=) c.5140A= (p.Met1714=) c.*5656A= (n.*5656A=) c.*7892A= (n.*7892A=) c.5143A= (p.Met1715=) c.5074A= (p.Met1692=) c.4942A= (p.Met1648=) c.4975A= (p.Met1659=) c.1366A= n.3025A= c.3797A= c.5014A= (p.Met1672=) n.740A= c.4945A= (p.Met1649=) c.5011A= (p.Met1671=) c.4936A= (p.Met1646=) n.2791A= c.5068A= (p.Met1690=) c.4939A= (p.Met1647=) c.5064A= n.3227A= c.5137A= (p.Met1713=) n.3958A= n.2395A= n.2366A= n.2256A= c.4798A= (p.Met1600=) c.*4310A= (n.*4310A=) c.4834A= (p.Met1612=) n.2866A= c.1325A= n.2258A= c.5197A= (p.Met1733=) c.5194A= (p.Met1732=) c.5086A= (p.Met1696=) c.5065A= (p.Met1689=) c.4411A= (p.Met1471=) c.5359A= (p.Met1787=) c.5107A= (p.Met1703=) c.3853A= (p.Met1285=) | |
16 | g.2088122A>C | CA394312556 | TSC2 | c.*3492A>C (n.*3492A>C) c.4990A>C (p.Met1664Leu) c.5140A>C (p.Met1714Leu) c.*5656A>C (n.*5656A>C) c.*7892A>C (n.*7892A>C) c.5143A>C (p.Met1715Leu) c.5074A>C (p.Met1692Leu) c.4942A>C (p.Met1648Leu) c.4975A>C (p.Met1659Leu) c.1366A>C n.3025A>C c.3797A>C c.5014A>C (p.Met1672Leu) n.740A>C c.4945A>C (p.Met1649Leu) c.5011A>C (p.Met1671Leu) c.4936A>C (p.Met1646Leu) n.2791A>C c.5068A>C (p.Met1690Leu) c.4939A>C (p.Met1647Leu) c.5064A>C n.3227A>C c.5137A>C (p.Met1713Leu) n.3958A>C n.2395A>C n.2366A>C n.2256A>C c.4798A>C (p.Met1600Leu) c.*4310A>C (n.*4310A>C) c.4834A>C (p.Met1612Leu) n.2866A>C c.1325A>C n.2258A>C c.5197A>C (p.Met1733Leu) c.5194A>C (p.Met1732Leu) c.5086A>C (p.Met1696Leu) c.5065A>C (p.Met1689Leu) c.4411A>C (p.Met1471Leu) c.5359A>C (p.Met1787Leu) c.5107A>C (p.Met1703Leu) c.3853A>C (p.Met1285Leu) | dbSNP |
16 | g.2088122A>G | CA021857 | TSC2 | c.*3492A>G (n.*3492A>G) c.4990A>G (p.Met1664Val) c.5140A>G (p.Met1714Val) c.*5656A>G (n.*5656A>G) c.*7892A>G (n.*7892A>G) c.5143A>G (p.Met1715Val) c.5074A>G (p.Met1692Val) c.4942A>G (p.Met1648Val) c.4975A>G (p.Met1659Val) c.1366A>G n.3025A>G c.3797A>G c.5014A>G (p.Met1672Val) n.740A>G c.4945A>G (p.Met1649Val) c.5011A>G (p.Met1671Val) c.4936A>G (p.Met1646Val) n.2791A>G c.5068A>G (p.Met1690Val) c.4939A>G (p.Met1647Val) c.5064A>G n.3227A>G c.5137A>G (p.Met1713Val) n.3958A>G n.2395A>G n.2366A>G n.2256A>G c.4798A>G (p.Met1600Val) c.*4310A>G (n.*4310A>G) c.4834A>G (p.Met1612Val) n.2866A>G c.1325A>G n.2258A>G c.5197A>G (p.Met1733Val) c.5194A>G (p.Met1732Val) c.5086A>G (p.Met1696Val) c.5065A>G (p.Met1689Val) c.4411A>G (p.Met1471Val) c.5359A>G (p.Met1787Val) c.5107A>G (p.Met1703Val) c.3853A>G (p.Met1285Val) | ClinVar dbSNP gnomAD v4 |
16 | g.2088122A>T | CA394312571 | TSC2 | c.*3492A>T (n.*3492A>T) c.4990A>T (p.Met1664Leu) c.5140A>T (p.Met1714Leu) c.*5656A>T (n.*5656A>T) c.*7892A>T (n.*7892A>T) c.5143A>T (p.Met1715Leu) c.5074A>T (p.Met1692Leu) c.4942A>T (p.Met1648Leu) c.4975A>T (p.Met1659Leu) c.1366A>T n.3025A>T c.3797A>T c.5014A>T (p.Met1672Leu) n.740A>T c.4945A>T (p.Met1649Leu) c.5011A>T (p.Met1671Leu) c.4936A>T (p.Met1646Leu) n.2791A>T c.5068A>T (p.Met1690Leu) c.4939A>T (p.Met1647Leu) c.5064A>T n.3227A>T c.5137A>T (p.Met1713Leu) n.3958A>T n.2395A>T n.2366A>T n.2256A>T c.4798A>T (p.Met1600Leu) c.*4310A>T (n.*4310A>T) c.4834A>T (p.Met1612Leu) n.2866A>T c.1325A>T n.2258A>T c.5197A>T (p.Met1733Leu) c.5194A>T (p.Met1732Leu) c.5086A>T (p.Met1696Leu) c.5065A>T (p.Met1689Leu) c.4411A>T (p.Met1471Leu) c.5359A>T (p.Met1787Leu) c.5107A>T (p.Met1703Leu) c.3853A>T (p.Met1285Leu) | dbSNP |
16 | g.2088122_2088134delinsATGGCCCTGCACG | CA2202030758 | TSC2 | c.*3492_*3504delinsATGGCCCTGCACG (n.*3492_*3504delinsATGGCCCTGCACG) c.4990_5002delinsATGGCCCTGCACG (p.Met1664=) c.5140_5152delinsATGGCCCTGCACG (p.Met1714=) c.*5656_*5668delinsATGGCCCTGCACG (n.*5656_*5668delinsATGGCCCTGCACG) c.*7892_*7904delinsATGGCCCTGCACG (n.*7892_*7904delinsATGGCCCTGCACG) c.5143_5155delinsATGGCCCTGCACG (p.Met1715=) c.5074_5086delinsATGGCCCTGCACG (p.Met1692=) c.4942_4954delinsATGGCCCTGCACG (p.Met1648=) c.4975_4987delinsATGGCCCTGCACG (p.Met1659=) c.1366_1378delinsATGGCCCTGCACG n.3025_3037delinsATGGCCCTGCACG c.3797_3809delinsATGGCCCTGCACG c.5014_5026delinsATGGCCCTGCACG (p.Met1672=) n.740_752delinsATGGCCCTGCACG c.4945_4957delinsATGGCCCTGCACG (p.Met1649=) c.5011_5023delinsATGGCCCTGCACG (p.Met1671=) c.4936_4948delinsATGGCCCTGCACG (p.Met1646=) n.2791_2803delinsATGGCCCTGCACG c.5068_5080delinsATGGCCCTGCACG (p.Met1690=) c.4939_4951delinsATGGCCCTGCACG (p.Met1647=) c.5064_5076delinsATGGCCCTGCACG n.3227_3239delinsATGGCCCTGCACG c.5137_5149delinsATGGCCCTGCACG (p.Met1713=) n.3958_3970delinsATGGCCCTGCACG n.2395_2407delinsATGGCCCTGCACG n.2366_2378delinsATGGCCCTGCACG n.2256_2268delinsATGGCCCTGCACG c.4798_4810delinsATGGCCCTGCACG (p.Met1600=) c.*4310_*4322delinsATGGCCCTGCACG (n.*4310_*4322delinsATGGCCCTGCACG) c.4834_4846delinsATGGCCCTGCACG (p.Met1612=) n.2866_2878delinsATGGCCCTGCACG c.1325_1337delinsATGGCCCTGCACG n.2258_2270delinsATGGCCCTGCACG c.5197_5209delinsATGGCCCTGCACG (p.Met1733=) c.5194_5206delinsATGGCCCTGCACG (p.Met1732=) c.5086_5098delinsATGGCCCTGCACG (p.Met1696=) c.5065_5077delinsATGGCCCTGCACG (p.Met1689=) c.4411_4423delinsATGGCCCTGCACG (p.Met1471=) c.5359_5371delinsATGGCCCTGCACG (p.Met1787=) c.5107_5119delinsATGGCCCTGCACG (p.Met1703=) c.3853_3865delinsATGGCCCTGCACG (p.Met1285=) | |
16 | g.2088123T>A | CA394312581 | TSC2 | c.*3493T>A (n.*3493T>A) c.4991T>A (p.Met1664Lys) c.5141T>A (p.Met1714Lys) c.*5657T>A (n.*5657T>A) c.*7893T>A (n.*7893T>A) c.5144T>A (p.Met1715Lys) c.5075T>A (p.Met1692Lys) c.4943T>A (p.Met1648Lys) c.4976T>A (p.Met1659Lys) c.1367T>A n.3026T>A c.3798T>A c.5015T>A (p.Met1672Lys) n.741T>A c.4946T>A (p.Met1649Lys) c.5012T>A (p.Met1671Lys) c.4937T>A (p.Met1646Lys) n.2792T>A c.5069T>A (p.Met1690Lys) c.4940T>A (p.Met1647Lys) c.5065T>A n.3228T>A c.5138T>A (p.Met1713Lys) n.3959T>A n.2396T>A n.2367T>A n.2257T>A c.4799T>A (p.Met1600Lys) c.*4311T>A (n.*4311T>A) c.4835T>A (p.Met1612Lys) n.2867T>A c.1326T>A n.2259T>A c.5198T>A (p.Met1733Lys) c.5195T>A (p.Met1732Lys) c.5087T>A (p.Met1696Lys) c.5066T>A (p.Met1689Lys) c.4412T>A (p.Met1471Lys) c.5360T>A (p.Met1787Lys) c.5108T>A (p.Met1703Lys) c.3854T>A (p.Met1285Lys) | ClinVar dbSNP gnomAD v4 |
16 | g.2088123T>C | CA054058 | TSC2 | c.*3493T>C (n.*3493T>C) c.4991T>C (p.Met1664Thr) c.5141T>C (p.Met1714Thr) c.*5657T>C (n.*5657T>C) c.*7893T>C (n.*7893T>C) c.5144T>C (p.Met1715Thr) c.5075T>C (p.Met1692Thr) c.4943T>C (p.Met1648Thr) c.4976T>C (p.Met1659Thr) c.1367T>C n.3026T>C c.3798T>C c.5015T>C (p.Met1672Thr) n.741T>C c.4946T>C (p.Met1649Thr) c.5012T>C (p.Met1671Thr) c.4937T>C (p.Met1646Thr) n.2792T>C c.5069T>C (p.Met1690Thr) c.4940T>C (p.Met1647Thr) c.5065T>C n.3228T>C c.5138T>C (p.Met1713Thr) n.3959T>C n.2396T>C n.2367T>C n.2257T>C c.4799T>C (p.Met1600Thr) c.*4311T>C (n.*4311T>C) c.4835T>C (p.Met1612Thr) n.2867T>C c.1326T>C n.2259T>C c.5198T>C (p.Met1733Thr) c.5195T>C (p.Met1732Thr) c.5087T>C (p.Met1696Thr) c.5066T>C (p.Met1689Thr) c.4412T>C (p.Met1471Thr) c.5360T>C (p.Met1787Thr) c.5108T>C (p.Met1703Thr) c.3854T>C (p.Met1285Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088123T>G | CA394312587 | TSC2 | c.*3493T>G (n.*3493T>G) c.4991T>G (p.Met1664Arg) c.5141T>G (p.Met1714Arg) c.*5657T>G (n.*5657T>G) c.*7893T>G (n.*7893T>G) c.5144T>G (p.Met1715Arg) c.5075T>G (p.Met1692Arg) c.4943T>G (p.Met1648Arg) c.4976T>G (p.Met1659Arg) c.1367T>G n.3026T>G c.3798T>G c.5015T>G (p.Met1672Arg) n.741T>G c.4946T>G (p.Met1649Arg) c.5012T>G (p.Met1671Arg) c.4937T>G (p.Met1646Arg) n.2792T>G c.5069T>G (p.Met1690Arg) c.4940T>G (p.Met1647Arg) c.5065T>G n.3228T>G c.5138T>G (p.Met1713Arg) n.3959T>G n.2396T>G n.2367T>G n.2257T>G c.4799T>G (p.Met1600Arg) c.*4311T>G (n.*4311T>G) c.4835T>G (p.Met1612Arg) n.2867T>G c.1326T>G n.2259T>G c.5198T>G (p.Met1733Arg) c.5195T>G (p.Met1732Arg) c.5087T>G (p.Met1696Arg) c.5066T>G (p.Met1689Arg) c.4412T>G (p.Met1471Arg) c.5360T>G (p.Met1787Arg) c.5108T>G (p.Met1703Arg) c.3854T>G (p.Met1285Arg) | |
16 | g.2088123T= | CA2202030775 | TSC2 | c.*3493T= (n.*3493T=) c.4991T= (p.Met1664=) c.5141T= (p.Met1714=) c.*5657T= (n.*5657T=) c.*7893T= (n.*7893T=) c.5144T= (p.Met1715=) c.5075T= (p.Met1692=) c.4943T= (p.Met1648=) c.4976T= (p.Met1659=) c.1367T= n.3026T= c.3798T= c.5015T= (p.Met1672=) n.741T= c.4946T= (p.Met1649=) c.5012T= (p.Met1671=) c.4937T= (p.Met1646=) n.2792T= c.5069T= (p.Met1690=) c.4940T= (p.Met1647=) c.5065T= n.3228T= c.5138T= (p.Met1713=) n.3959T= n.2396T= n.2367T= n.2257T= c.4799T= (p.Met1600=) c.*4311T= (n.*4311T=) c.4835T= (p.Met1612=) n.2867T= c.1326T= n.2259T= c.5198T= (p.Met1733=) c.5195T= (p.Met1732=) c.5087T= (p.Met1696=) c.5066T= (p.Met1689=) c.4412T= (p.Met1471=) c.5360T= (p.Met1787=) c.5108T= (p.Met1703=) c.3854T= (p.Met1285=) | |
16 | g.2088123_2088134del | CA021862 | TSC2 | c.*3493_*3504del (n.*3493_*3504del) c.4991_5002del (p.Met1664_Ala1668delinsThr) c.5141_5152del (p.Met1714_Ala1718delinsThr) c.*5657_*5668del (n.*5657_*5668del) c.*7893_*7904del (n.*7893_*7904del) c.5144_5155del (p.Met1715_Ala1719delinsThr) c.5075_5086del (p.Met1692_Ala1696delinsThr) c.4943_4954del (p.Met1648_Ala1652delinsThr) c.4976_4987del (p.Met1659_Ala1663delinsThr) c.1367_1378del n.3026_3037del c.3798_3809del c.5015_5026del (p.Met1672_Ala1676delinsThr) n.741_752del c.4946_4957del (p.Met1649_Ala1653delinsThr) c.5012_5023del (p.Met1671_Ala1675delinsThr) c.4937_4948del (p.Met1646_Ala1650delinsThr) n.2792_2803del c.5069_5080del (p.Met1690_Ala1694delinsThr) c.4940_4951del (p.Met1647_Ala1651delinsThr) c.5065_5076del n.3228_3239del c.5138_5149del (p.Met1713_Ala1717delinsThr) n.3959_3970del n.2396_2407del n.2367_2378del n.2257_2268del c.4799_4810del (p.Met1600_Ala1604delinsThr) c.*4311_*4322del (n.*4311_*4322del) c.4835_4846del (p.Met1612_Ala1616delinsThr) n.2867_2878del c.1326_1337del n.2259_2270del c.5198_5209del (p.Met1733_Ala1737delinsThr) c.5195_5206del (p.Met1732_Ala1736delinsThr) c.5087_5098del (p.Met1696_Ala1700delinsThr) c.5066_5077del (p.Met1689_Ala1693delinsThr) c.4412_4423del (p.Met1471_Ala1475delinsThr) c.5360_5371del (p.Met1787_Ala1791delinsThr) c.5108_5119del (p.Met1703_Ala1707delinsThr) c.3854_3865del (p.Met1285_Ala1289delinsThr) | ClinVar dbSNP |
16 | g.2088126_2088170del | CA2695221746 | TSC2 | c.*3496_*3509+31del c.4994_5007+31del c.5144_5157+31del c.*5660_*5673+31del c.*7896_*7909+31del c.5147_5160+31del c.5078_5091+31del c.4946_4959+31del c.4979_4992+31del c.1370_1383+31del n.3029_3042+31del c.3801_3814+31del c.5018_5031+31del n.744_757+31del c.4949_4962+31del c.5015_5028+31del c.4940_4953+31del n.2795_2808+31del c.5072_5085+31del c.4946_4990del (p.Ala1649_Leu1663del) c.4943_4956+31del c.5068_5081+31del n.3231_3244+31del c.5141_5154+31del n.3962_3975+31del n.2399_2412+31del n.2370_2383+31del n.2260_2273+31del c.4802_4815+31del c.*4314_*4327+31del c.4838_4851+31del n.2870_2883+31del c.1329_1342+31del n.2262_2275+31del c.5201_5214+31del c.5198_5211+31del c.5090_5103+31del c.5069_5082+31del c.4415_4428+31del c.5363_5376+31del c.5111_5124+31del c.3857_3870+31del | |
16 | g.2088124G>A | CA394312596 | TSC2 | c.*3494G>A (n.*3494G>A) c.4992G>A (p.Met1664Ile) c.5142G>A (p.Met1714Ile) c.*5658G>A (n.*5658G>A) c.*7894G>A (n.*7894G>A) c.5145G>A (p.Met1715Ile) c.5076G>A (p.Met1692Ile) c.4944G>A (p.Met1648Ile) c.4977G>A (p.Met1659Ile) c.1368G>A n.3027G>A c.3799G>A c.5016G>A (p.Met1672Ile) n.742G>A c.4947G>A (p.Met1649Ile) c.5013G>A (p.Met1671Ile) c.4938G>A (p.Met1646Ile) n.2793G>A c.5070G>A (p.Met1690Ile) c.4941G>A (p.Met1647Ile) c.5066G>A n.3229G>A c.5139G>A (p.Met1713Ile) n.3960G>A n.2397G>A n.2368G>A n.2258G>A c.4800G>A (p.Met1600Ile) c.*4312G>A (n.*4312G>A) c.4836G>A (p.Met1612Ile) n.2868G>A c.1327G>A n.2260G>A c.5199G>A (p.Met1733Ile) c.5196G>A (p.Met1732Ile) c.5088G>A (p.Met1696Ile) c.5067G>A (p.Met1689Ile) c.4413G>A (p.Met1471Ile) c.5361G>A (p.Met1787Ile) c.5109G>A (p.Met1703Ile) c.3855G>A (p.Met1285Ile) | ClinVar |
16 | g.2088124G>C | CA394312593 | TSC2 | c.*3494G>C (n.*3494G>C) c.4992G>C (p.Met1664Ile) c.5142G>C (p.Met1714Ile) c.*5658G>C (n.*5658G>C) c.*7894G>C (n.*7894G>C) c.5145G>C (p.Met1715Ile) c.5076G>C (p.Met1692Ile) c.4944G>C (p.Met1648Ile) c.4977G>C (p.Met1659Ile) c.1368G>C n.3027G>C c.3799G>C c.5016G>C (p.Met1672Ile) n.742G>C c.4947G>C (p.Met1649Ile) c.5013G>C (p.Met1671Ile) c.4938G>C (p.Met1646Ile) n.2793G>C c.5070G>C (p.Met1690Ile) c.4941G>C (p.Met1647Ile) c.5066G>C n.3229G>C c.5139G>C (p.Met1713Ile) n.3960G>C n.2397G>C n.2368G>C n.2258G>C c.4800G>C (p.Met1600Ile) c.*4312G>C (n.*4312G>C) c.4836G>C (p.Met1612Ile) n.2868G>C c.1327G>C n.2260G>C c.5199G>C (p.Met1733Ile) c.5196G>C (p.Met1732Ile) c.5088G>C (p.Met1696Ile) c.5067G>C (p.Met1689Ile) c.4413G>C (p.Met1471Ile) c.5361G>C (p.Met1787Ile) c.5109G>C (p.Met1703Ile) c.3855G>C (p.Met1285Ile) | |
16 | g.2088124G>T | CA394312590 | TSC2 | c.*3494G>T (n.*3494G>T) c.4992G>T (p.Met1664Ile) c.5142G>T (p.Met1714Ile) c.*5658G>T (n.*5658G>T) c.*7894G>T (n.*7894G>T) c.5145G>T (p.Met1715Ile) c.5076G>T (p.Met1692Ile) c.4944G>T (p.Met1648Ile) c.4977G>T (p.Met1659Ile) c.1368G>T n.3027G>T c.3799G>T c.5016G>T (p.Met1672Ile) n.742G>T c.4947G>T (p.Met1649Ile) c.5013G>T (p.Met1671Ile) c.4938G>T (p.Met1646Ile) n.2793G>T c.5070G>T (p.Met1690Ile) c.4941G>T (p.Met1647Ile) c.5066G>T n.3229G>T c.5139G>T (p.Met1713Ile) n.3960G>T n.2397G>T n.2368G>T n.2258G>T c.4800G>T (p.Met1600Ile) c.*4312G>T (n.*4312G>T) c.4836G>T (p.Met1612Ile) n.2868G>T c.1327G>T n.2260G>T c.5199G>T (p.Met1733Ile) c.5196G>T (p.Met1732Ile) c.5088G>T (p.Met1696Ile) c.5067G>T (p.Met1689Ile) c.4413G>T (p.Met1471Ile) c.5361G>T (p.Met1787Ile) c.5109G>T (p.Met1703Ile) c.3855G>T (p.Met1285Ile) | |
16 | g.2088125del | CA2695221747 | TSC2 | c.*3495del (n.*3495del) c.4993del (p.Ala1665ProfsTer?) c.5143del (p.Ala1715ProfsTer?) c.*5659del (n.*5659del) c.*7895del (n.*7895del) c.5146del (p.Ala1716ProfsTer?) c.5077del (p.Ala1693ProfsTer?) c.4945del (p.Ala1649ProfsTer?) c.4978del (p.Ala1660ProfsTer?) c.1369del n.3028del c.3800del c.5017del (p.Ala1673ProfsTer?) n.743del c.4948del (p.Ala1650ProfsTer?) c.5014del (p.Ala1672ProfsTer?) c.4939del (p.Ala1647ProfsTer?) n.2794del c.5071del (p.Ala1691ProfsTer?) c.4945del (p.Ala1649ProfsTer6) c.4942del (p.Ala1648ProfsTer?) c.5067del n.3230del c.5140del (p.Ala1714ProfsTer?) n.3961del n.2398del n.2369del n.2259del c.4801del (p.Ala1601ProfsTer?) c.*4313del (n.*4313del) c.4837del (p.Ala1613ProfsTer?) n.2869del c.1328del n.2261del c.5200del (p.Ala1734ProfsTer?) c.5197del (p.Ala1733ProfsTer?) c.5089del (p.Ala1697ProfsTer?) c.5068del (p.Ala1690ProfsTer?) c.4414del (p.Ala1472ProfsTer?) c.5362del (p.Ala1788ProfsTer?) c.5110del (p.Ala1704ProfsTer?) c.3856del (p.Ala1286ProfsTer?) | |
16 | g.2088125G>A | CA394312599 | TSC2 | c.*3495G>A (n.*3495G>A) c.4993G>A (p.Ala1665Thr) c.5143G>A (p.Ala1715Thr) c.*5659G>A (n.*5659G>A) c.*7895G>A (n.*7895G>A) c.5146G>A (p.Ala1716Thr) c.5077G>A (p.Ala1693Thr) c.4945G>A (p.Ala1649Thr) c.4978G>A (p.Ala1660Thr) c.1369G>A n.3028G>A c.3800G>A c.5017G>A (p.Ala1673Thr) n.743G>A c.4948G>A (p.Ala1650Thr) c.5014G>A (p.Ala1672Thr) c.4939G>A (p.Ala1647Thr) n.2794G>A c.5071G>A (p.Ala1691Thr) c.4942G>A (p.Ala1648Thr) c.5067G>A n.3230G>A c.5140G>A (p.Ala1714Thr) n.3961G>A n.2398G>A n.2369G>A n.2259G>A c.4801G>A (p.Ala1601Thr) c.*4313G>A (n.*4313G>A) c.4837G>A (p.Ala1613Thr) n.2869G>A c.1328G>A n.2261G>A c.5200G>A (p.Ala1734Thr) c.5197G>A (p.Ala1733Thr) c.5089G>A (p.Ala1697Thr) c.5068G>A (p.Ala1690Thr) c.4414G>A (p.Ala1472Thr) c.5362G>A (p.Ala1788Thr) c.5110G>A (p.Ala1704Thr) c.3856G>A (p.Ala1286Thr) | dbSNP |
16 | g.2088125G>C | CA021872 | TSC2 | c.*3495G>C (n.*3495G>C) c.4993G>C (p.Ala1665Pro) c.5143G>C (p.Ala1715Pro) c.*5659G>C (n.*5659G>C) c.*7895G>C (n.*7895G>C) c.5146G>C (p.Ala1716Pro) c.5077G>C (p.Ala1693Pro) c.4945G>C (p.Ala1649Pro) c.4978G>C (p.Ala1660Pro) c.1369G>C n.3028G>C c.3800G>C c.5017G>C (p.Ala1673Pro) n.743G>C c.4948G>C (p.Ala1650Pro) c.5014G>C (p.Ala1672Pro) c.4939G>C (p.Ala1647Pro) n.2794G>C c.5071G>C (p.Ala1691Pro) c.4942G>C (p.Ala1648Pro) c.5067G>C n.3230G>C c.5140G>C (p.Ala1714Pro) n.3961G>C n.2398G>C n.2369G>C n.2259G>C c.4801G>C (p.Ala1601Pro) c.*4313G>C (n.*4313G>C) c.4837G>C (p.Ala1613Pro) n.2869G>C c.1328G>C n.2261G>C c.5200G>C (p.Ala1734Pro) c.5197G>C (p.Ala1733Pro) c.5089G>C (p.Ala1697Pro) c.5068G>C (p.Ala1690Pro) c.4414G>C (p.Ala1472Pro) c.5362G>C (p.Ala1788Pro) c.5110G>C (p.Ala1704Pro) c.3856G>C (p.Ala1286Pro) | ClinVar dbSNP |
16 | g.2088125G= | CA2202030782 | TSC2 | c.*3495G= (n.*3495G=) c.4993G= (p.Ala1665=) c.5143G= (p.Ala1715=) c.*5659G= (n.*5659G=) c.*7895G= (n.*7895G=) c.5146G= (p.Ala1716=) c.5077G= (p.Ala1693=) c.4945G= (p.Ala1649=) c.4978G= (p.Ala1660=) c.1369G= n.3028G= c.3800G= c.5017G= (p.Ala1673=) n.743G= c.4948G= (p.Ala1650=) c.5014G= (p.Ala1672=) c.4939G= (p.Ala1647=) n.2794G= c.5071G= (p.Ala1691=) c.4942G= (p.Ala1648=) c.5067G= n.3230G= c.5140G= (p.Ala1714=) n.3961G= n.2398G= n.2369G= n.2259G= c.4801G= (p.Ala1601=) c.*4313G= (n.*4313G=) c.4837G= (p.Ala1613=) n.2869G= c.1328G= n.2261G= c.5200G= (p.Ala1734=) c.5197G= (p.Ala1733=) c.5089G= (p.Ala1697=) c.5068G= (p.Ala1690=) c.4414G= (p.Ala1472=) c.5362G= (p.Ala1788=) c.5110G= (p.Ala1704=) c.3856G= (p.Ala1286=) | |
16 | g.2088125G>T | CA054063 | TSC2 | c.*3495G>T (n.*3495G>T) c.4993G>T (p.Ala1665Ser) c.5143G>T (p.Ala1715Ser) c.*5659G>T (n.*5659G>T) c.*7895G>T (n.*7895G>T) c.5146G>T (p.Ala1716Ser) c.5077G>T (p.Ala1693Ser) c.4945G>T (p.Ala1649Ser) c.4978G>T (p.Ala1660Ser) c.1369G>T n.3028G>T c.3800G>T c.5017G>T (p.Ala1673Ser) n.743G>T c.4948G>T (p.Ala1650Ser) c.5014G>T (p.Ala1672Ser) c.4939G>T (p.Ala1647Ser) n.2794G>T c.5071G>T (p.Ala1691Ser) c.4942G>T (p.Ala1648Ser) c.5067G>T n.3230G>T c.5140G>T (p.Ala1714Ser) n.3961G>T n.2398G>T n.2369G>T n.2259G>T c.4801G>T (p.Ala1601Ser) c.*4313G>T (n.*4313G>T) c.4837G>T (p.Ala1613Ser) n.2869G>T c.1328G>T n.2261G>T c.5200G>T (p.Ala1734Ser) c.5197G>T (p.Ala1733Ser) c.5089G>T (p.Ala1697Ser) c.5068G>T (p.Ala1690Ser) c.4414G>T (p.Ala1472Ser) c.5362G>T (p.Ala1788Ser) c.5110G>T (p.Ala1704Ser) c.3856G>T (p.Ala1286Ser) | dbSNP ExAC |
16 | g.2088126C>A | CA394312606 | TSC2 | c.*3496C>A (n.*3496C>A) c.4994C>A (p.Ala1665Asp) c.5144C>A (p.Ala1715Asp) c.*5660C>A (n.*5660C>A) c.*7896C>A (n.*7896C>A) c.5147C>A (p.Ala1716Asp) c.5078C>A (p.Ala1693Asp) c.4946C>A (p.Ala1649Asp) c.4979C>A (p.Ala1660Asp) c.1370C>A n.3029C>A c.3801C>A c.5018C>A (p.Ala1673Asp) n.744C>A c.4949C>A (p.Ala1650Asp) c.5015C>A (p.Ala1672Asp) c.4940C>A (p.Ala1647Asp) n.2795C>A c.5072C>A (p.Ala1691Asp) c.4943C>A (p.Ala1648Asp) c.5068C>A n.3231C>A c.5141C>A (p.Ala1714Asp) n.3962C>A n.2399C>A n.2370C>A n.2260C>A c.4802C>A (p.Ala1601Asp) c.*4314C>A (n.*4314C>A) c.4838C>A (p.Ala1613Asp) n.2870C>A c.1329C>A n.2262C>A c.5201C>A (p.Ala1734Asp) c.5198C>A (p.Ala1733Asp) c.5090C>A (p.Ala1697Asp) c.5069C>A (p.Ala1690Asp) c.4415C>A (p.Ala1472Asp) c.5363C>A (p.Ala1788Asp) c.5111C>A (p.Ala1704Asp) c.3857C>A (p.Ala1286Asp) | dbSNP |
16 | g.2088126C= | CA2202030793 | TSC2 | c.*3496C= (n.*3496C=) c.4994C= (p.Ala1665=) c.5144C= (p.Ala1715=) c.*5660C= (n.*5660C=) c.*7896C= (n.*7896C=) c.5147C= (p.Ala1716=) c.5078C= (p.Ala1693=) c.4946C= (p.Ala1649=) c.4979C= (p.Ala1660=) c.1370C= n.3029C= c.3801C= c.5018C= (p.Ala1673=) n.744C= c.4949C= (p.Ala1650=) c.5015C= (p.Ala1672=) c.4940C= (p.Ala1647=) n.2795C= c.5072C= (p.Ala1691=) c.4943C= (p.Ala1648=) c.5068C= n.3231C= c.5141C= (p.Ala1714=) n.3962C= n.2399C= n.2370C= n.2260C= c.4802C= (p.Ala1601=) c.*4314C= (n.*4314C=) c.4838C= (p.Ala1613=) n.2870C= c.1329C= n.2262C= c.5201C= (p.Ala1734=) c.5198C= (p.Ala1733=) c.5090C= (p.Ala1697=) c.5069C= (p.Ala1690=) c.4415C= (p.Ala1472=) c.5363C= (p.Ala1788=) c.5111C= (p.Ala1704=) c.3857C= (p.Ala1286=) | |
16 | g.2088126C>G | CA394312609 | TSC2 | c.*3496C>G (n.*3496C>G) c.4994C>G (p.Ala1665Gly) c.5144C>G (p.Ala1715Gly) c.*5660C>G (n.*5660C>G) c.*7896C>G (n.*7896C>G) c.5147C>G (p.Ala1716Gly) c.5078C>G (p.Ala1693Gly) c.4946C>G (p.Ala1649Gly) c.4979C>G (p.Ala1660Gly) c.1370C>G n.3029C>G c.3801C>G c.5018C>G (p.Ala1673Gly) n.744C>G c.4949C>G (p.Ala1650Gly) c.5015C>G (p.Ala1672Gly) c.4940C>G (p.Ala1647Gly) n.2795C>G c.5072C>G (p.Ala1691Gly) c.4943C>G (p.Ala1648Gly) c.5068C>G n.3231C>G c.5141C>G (p.Ala1714Gly) n.3962C>G n.2399C>G n.2370C>G n.2260C>G c.4802C>G (p.Ala1601Gly) c.*4314C>G (n.*4314C>G) c.4838C>G (p.Ala1613Gly) n.2870C>G c.1329C>G n.2262C>G c.5201C>G (p.Ala1734Gly) c.5198C>G (p.Ala1733Gly) c.5090C>G (p.Ala1697Gly) c.5069C>G (p.Ala1690Gly) c.4415C>G (p.Ala1472Gly) c.5363C>G (p.Ala1788Gly) c.5111C>G (p.Ala1704Gly) c.3857C>G (p.Ala1286Gly) | dbSNP |
16 | g.2088126C>T | CA394312611 | TSC2 | c.*3496C>T (n.*3496C>T) c.4994C>T (p.Ala1665Val) c.5144C>T (p.Ala1715Val) c.*5660C>T (n.*5660C>T) c.*7896C>T (n.*7896C>T) c.5147C>T (p.Ala1716Val) c.5078C>T (p.Ala1693Val) c.4946C>T (p.Ala1649Val) c.4979C>T (p.Ala1660Val) c.1370C>T n.3029C>T c.3801C>T c.5018C>T (p.Ala1673Val) n.744C>T c.4949C>T (p.Ala1650Val) c.5015C>T (p.Ala1672Val) c.4940C>T (p.Ala1647Val) n.2795C>T c.5072C>T (p.Ala1691Val) c.4943C>T (p.Ala1648Val) c.5068C>T n.3231C>T c.5141C>T (p.Ala1714Val) n.3962C>T n.2399C>T n.2370C>T n.2260C>T c.4802C>T (p.Ala1601Val) c.*4314C>T (n.*4314C>T) c.4838C>T (p.Ala1613Val) n.2870C>T c.1329C>T n.2262C>T c.5201C>T (p.Ala1734Val) c.5198C>T (p.Ala1733Val) c.5090C>T (p.Ala1697Val) c.5069C>T (p.Ala1690Val) c.4415C>T (p.Ala1472Val) c.5363C>T (p.Ala1788Val) c.5111C>T (p.Ala1704Val) c.3857C>T (p.Ala1286Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088127C>A | CA493043690 | TSC2 | c.*3497C>A (n.*3497C>A) c.4995C>A (p.Ala1665=) c.5145C>A (p.Ala1715=) c.*5661C>A (n.*5661C>A) c.*7897C>A (n.*7897C>A) c.5148C>A (p.Ala1716=) c.5079C>A (p.Ala1693=) c.4947C>A (p.Ala1649=) c.4980C>A (p.Ala1660=) c.1371C>A n.3030C>A c.3802C>A c.5019C>A (p.Ala1673=) n.745C>A c.4950C>A (p.Ala1650=) c.5016C>A (p.Ala1672=) c.4941C>A (p.Ala1647=) n.2796C>A c.5073C>A (p.Ala1691=) c.4944C>A (p.Ala1648=) c.5069C>A n.3232C>A c.5142C>A (p.Ala1714=) n.3963C>A n.2400C>A n.2371C>A n.2261C>A c.4803C>A (p.Ala1601=) c.*4315C>A (n.*4315C>A) c.4839C>A (p.Ala1613=) n.2871C>A c.1330C>A n.2263C>A c.5202C>A (p.Ala1734=) c.5199C>A (p.Ala1733=) c.5091C>A (p.Ala1697=) c.5070C>A (p.Ala1690=) c.4416C>A (p.Ala1472=) c.5364C>A (p.Ala1788=) c.5112C>A (p.Ala1704=) c.3858C>A (p.Ala1286=) | dbSNP |
16 | g.2088127C= | CA2202030797 | TSC2 | c.*3497C= (n.*3497C=) c.4995C= (p.Ala1665=) c.5145C= (p.Ala1715=) c.*5661C= (n.*5661C=) c.*7897C= (n.*7897C=) c.5148C= (p.Ala1716=) c.5079C= (p.Ala1693=) c.4947C= (p.Ala1649=) c.4980C= (p.Ala1660=) c.1371C= n.3030C= c.3802C= c.5019C= (p.Ala1673=) n.745C= c.4950C= (p.Ala1650=) c.5016C= (p.Ala1672=) c.4941C= (p.Ala1647=) n.2796C= c.5073C= (p.Ala1691=) c.4944C= (p.Ala1648=) c.5069C= n.3232C= c.5142C= (p.Ala1714=) n.3963C= n.2400C= n.2371C= n.2261C= c.4803C= (p.Ala1601=) c.*4315C= (n.*4315C=) c.4839C= (p.Ala1613=) n.2871C= c.1330C= n.2263C= c.5202C= (p.Ala1734=) c.5199C= (p.Ala1733=) c.5091C= (p.Ala1697=) c.5070C= (p.Ala1690=) c.4416C= (p.Ala1472=) c.5364C= (p.Ala1788=) c.5112C= (p.Ala1704=) c.3858C= (p.Ala1286=) | |
16 | g.2088127C>G | CA493043691 | TSC2 | c.*3497C>G (n.*3497C>G) c.4995C>G (p.Ala1665=) c.5145C>G (p.Ala1715=) c.*5661C>G (n.*5661C>G) c.*7897C>G (n.*7897C>G) c.5148C>G (p.Ala1716=) c.5079C>G (p.Ala1693=) c.4947C>G (p.Ala1649=) c.4980C>G (p.Ala1660=) c.1371C>G n.3030C>G c.3802C>G c.5019C>G (p.Ala1673=) n.745C>G c.4950C>G (p.Ala1650=) c.5016C>G (p.Ala1672=) c.4941C>G (p.Ala1647=) n.2796C>G c.5073C>G (p.Ala1691=) c.4944C>G (p.Ala1648=) c.5069C>G n.3232C>G c.5142C>G (p.Ala1714=) n.3963C>G n.2400C>G n.2371C>G n.2261C>G c.4803C>G (p.Ala1601=) c.*4315C>G (n.*4315C>G) c.4839C>G (p.Ala1613=) n.2871C>G c.1330C>G n.2263C>G c.5202C>G (p.Ala1734=) c.5199C>G (p.Ala1733=) c.5091C>G (p.Ala1697=) c.5070C>G (p.Ala1690=) c.4416C>G (p.Ala1472=) c.5364C>G (p.Ala1788=) c.5112C>G (p.Ala1704=) c.3858C>G (p.Ala1286=) | dbSNP |
16 | g.2088127C>T | CA021877 | TSC2 | c.*3497C>T (n.*3497C>T) c.4995C>T (p.Ala1665=) c.5145C>T (p.Ala1715=) c.*5661C>T (n.*5661C>T) c.*7897C>T (n.*7897C>T) c.5148C>T (p.Ala1716=) c.5079C>T (p.Ala1693=) c.4947C>T (p.Ala1649=) c.4980C>T (p.Ala1660=) c.1371C>T n.3030C>T c.3802C>T c.5019C>T (p.Ala1673=) n.745C>T c.4950C>T (p.Ala1650=) c.5016C>T (p.Ala1672=) c.4941C>T (p.Ala1647=) n.2796C>T c.5073C>T (p.Ala1691=) c.4944C>T (p.Ala1648=) c.5069C>T n.3232C>T c.5142C>T (p.Ala1714=) n.3963C>T n.2400C>T n.2371C>T n.2261C>T c.4803C>T (p.Ala1601=) c.*4315C>T (n.*4315C>T) c.4839C>T (p.Ala1613=) n.2871C>T c.1330C>T n.2263C>T c.5202C>T (p.Ala1734=) c.5199C>T (p.Ala1733=) c.5091C>T (p.Ala1697=) c.5070C>T (p.Ala1690=) c.4416C>T (p.Ala1472=) c.5364C>T (p.Ala1788=) c.5112C>T (p.Ala1704=) c.3858C>T (p.Ala1286=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088128C>A | CA394312615 | TSC2 | c.*3498C>A (n.*3498C>A) c.4996C>A (p.Leu1666Met) c.5146C>A (p.Leu1716Met) c.*5662C>A (n.*5662C>A) c.*7898C>A (n.*7898C>A) c.5149C>A (p.Leu1717Met) c.5080C>A (p.Leu1694Met) c.4948C>A (p.Leu1650Met) c.4981C>A (p.Leu1661Met) c.1372C>A n.3031C>A c.3803C>A c.5020C>A (p.Leu1674Met) n.746C>A c.4951C>A (p.Leu1651Met) c.5017C>A (p.Leu1673Met) c.4942C>A (p.Leu1648Met) n.2797C>A c.5074C>A (p.Leu1692Met) c.4945C>A (p.Leu1649Met) c.5070C>A n.3233C>A c.5143C>A (p.Leu1715Met) n.3964C>A n.2401C>A n.2372C>A n.2262C>A c.4804C>A (p.Leu1602Met) c.*4316C>A (n.*4316C>A) c.4840C>A (p.Leu1614Met) n.2872C>A c.1331C>A n.2264C>A c.5203C>A (p.Leu1735Met) c.5200C>A (p.Leu1734Met) c.5092C>A (p.Leu1698Met) c.5071C>A (p.Leu1691Met) c.4417C>A (p.Leu1473Met) c.5365C>A (p.Leu1789Met) c.5113C>A (p.Leu1705Met) c.3859C>A (p.Leu1287Met) | dbSNP |
16 | g.2088128C= | CA2202030806 | TSC2 | c.*3498C= (n.*3498C=) c.4996C= (p.Leu1666=) c.5146C= (p.Leu1716=) c.*5662C= (n.*5662C=) c.*7898C= (n.*7898C=) c.5149C= (p.Leu1717=) c.5080C= (p.Leu1694=) c.4948C= (p.Leu1650=) c.4981C= (p.Leu1661=) c.1372C= n.3031C= c.3803C= c.5020C= (p.Leu1674=) n.746C= c.4951C= (p.Leu1651=) c.5017C= (p.Leu1673=) c.4942C= (p.Leu1648=) n.2797C= c.5074C= (p.Leu1692=) c.4945C= (p.Leu1649=) c.5070C= n.3233C= c.5143C= (p.Leu1715=) n.3964C= n.2401C= n.2372C= n.2262C= c.4804C= (p.Leu1602=) c.*4316C= (n.*4316C=) c.4840C= (p.Leu1614=) n.2872C= c.1331C= n.2264C= c.5203C= (p.Leu1735=) c.5200C= (p.Leu1734=) c.5092C= (p.Leu1698=) c.5071C= (p.Leu1691=) c.4417C= (p.Leu1473=) c.5365C= (p.Leu1789=) c.5113C= (p.Leu1705=) c.3859C= (p.Leu1287=) | |
16 | g.2088128C>G | CA394312619 | TSC2 | c.*3498C>G (n.*3498C>G) c.4996C>G (p.Leu1666Val) c.5146C>G (p.Leu1716Val) c.*5662C>G (n.*5662C>G) c.*7898C>G (n.*7898C>G) c.5149C>G (p.Leu1717Val) c.5080C>G (p.Leu1694Val) c.4948C>G (p.Leu1650Val) c.4981C>G (p.Leu1661Val) c.1372C>G n.3031C>G c.3803C>G c.5020C>G (p.Leu1674Val) n.746C>G c.4951C>G (p.Leu1651Val) c.5017C>G (p.Leu1673Val) c.4942C>G (p.Leu1648Val) n.2797C>G c.5074C>G (p.Leu1692Val) c.4945C>G (p.Leu1649Val) c.5070C>G n.3233C>G c.5143C>G (p.Leu1715Val) n.3964C>G n.2401C>G n.2372C>G n.2262C>G c.4804C>G (p.Leu1602Val) c.*4316C>G (n.*4316C>G) c.4840C>G (p.Leu1614Val) n.2872C>G c.1331C>G n.2264C>G c.5203C>G (p.Leu1735Val) c.5200C>G (p.Leu1734Val) c.5092C>G (p.Leu1698Val) c.5071C>G (p.Leu1691Val) c.4417C>G (p.Leu1473Val) c.5365C>G (p.Leu1789Val) c.5113C>G (p.Leu1705Val) c.3859C>G (p.Leu1287Val) | ClinVar dbSNP |
16 | g.2088128C>T | CA493043695 | TSC2 | c.*3498C>T (n.*3498C>T) c.4996C>T (p.Leu1666=) c.5146C>T (p.Leu1716=) c.*5662C>T (n.*5662C>T) c.*7898C>T (n.*7898C>T) c.5149C>T (p.Leu1717=) c.5080C>T (p.Leu1694=) c.4948C>T (p.Leu1650=) c.4981C>T (p.Leu1661=) c.1372C>T n.3031C>T c.3803C>T c.5020C>T (p.Leu1674=) n.746C>T c.4951C>T (p.Leu1651=) c.5017C>T (p.Leu1673=) c.4942C>T (p.Leu1648=) n.2797C>T c.5074C>T (p.Leu1692=) c.4945C>T (p.Leu1649=) c.5070C>T n.3233C>T c.5143C>T (p.Leu1715=) n.3964C>T n.2401C>T n.2372C>T n.2262C>T c.4804C>T (p.Leu1602=) c.*4316C>T (n.*4316C>T) c.4840C>T (p.Leu1614=) n.2872C>T c.1331C>T n.2264C>T c.5203C>T (p.Leu1735=) c.5200C>T (p.Leu1734=) c.5092C>T (p.Leu1698=) c.5071C>T (p.Leu1691=) c.4417C>T (p.Leu1473=) c.5365C>T (p.Leu1789=) c.5113C>T (p.Leu1705=) c.3859C>T (p.Leu1287=) | ClinVar dbSNP gnomAD v4 |
16 | g.2088128_2088138delinsCTGCACGCAAA | CA2202030804 | TSC2 | c.*3498_*3508delinsCTGCACGCAAA (n.*3498_*3508delinsCTGCACGCAAA) c.4996_5006delinsCTGCACGCAAA (p.Leu1666=) c.5146_5156delinsCTGCACGCAAA (p.Leu1716=) c.*5662_*5672delinsCTGCACGCAAA (n.*5662_*5672delinsCTGCACGCAAA) c.*7898_*7908delinsCTGCACGCAAA (n.*7898_*7908delinsCTGCACGCAAA) c.5149_5159delinsCTGCACGCAAA (p.Leu1717=) c.5080_5090delinsCTGCACGCAAA (p.Leu1694=) c.4948_4958delinsCTGCACGCAAA (p.Leu1650=) c.4981_4991delinsCTGCACGCAAA (p.Leu1661=) c.1372_1382delinsCTGCACGCAAA n.3031_3041delinsCTGCACGCAAA c.3803_3813delinsCTGCACGCAAA c.5020_5030delinsCTGCACGCAAA (p.Leu1674=) n.746_756delinsCTGCACGCAAA c.4951_4961delinsCTGCACGCAAA (p.Leu1651=) c.5017_5027delinsCTGCACGCAAA (p.Leu1673=) c.4942_4952delinsCTGCACGCAAA (p.Leu1648=) n.2797_2807delinsCTGCACGCAAA c.5074_5084delinsCTGCACGCAAA (p.Leu1692=) c.4945_4955delinsCTGCACGCAAA (p.Leu1649=) c.5070_5080delinsCTGCACGCAAA n.3233_3243delinsCTGCACGCAAA c.5143_5153delinsCTGCACGCAAA (p.Leu1715=) n.3964_3974delinsCTGCACGCAAA n.2401_2411delinsCTGCACGCAAA n.2372_2382delinsCTGCACGCAAA n.2262_2272delinsCTGCACGCAAA c.4804_4814delinsCTGCACGCAAA (p.Leu1602=) c.*4316_*4326delinsCTGCACGCAAA (n.*4316_*4326delinsCTGCACGCAAA) c.4840_4850delinsCTGCACGCAAA (p.Leu1614=) n.2872_2882delinsCTGCACGCAAA c.1331_1341delinsCTGCACGCAAA n.2264_2274delinsCTGCACGCAAA c.5203_5213delinsCTGCACGCAAA (p.Leu1735=) c.5200_5210delinsCTGCACGCAAA (p.Leu1734=) c.5092_5102delinsCTGCACGCAAA (p.Leu1698=) c.5071_5081delinsCTGCACGCAAA (p.Leu1691=) c.4417_4427delinsCTGCACGCAAA (p.Leu1473=) c.5365_5375delinsCTGCACGCAAA (p.Leu1789=) c.5113_5123delinsCTGCACGCAAA (p.Leu1705=) c.3859_3869delinsCTGCACGCAAA (p.Leu1287=) | |
16 | g.2088129T>A | CA394312623 | TSC2 | c.*3499T>A (n.*3499T>A) c.4997T>A (p.Leu1666Gln) c.5147T>A (p.Leu1716Gln) c.*5663T>A (n.*5663T>A) c.*7899T>A (n.*7899T>A) c.5150T>A (p.Leu1717Gln) c.5081T>A (p.Leu1694Gln) c.4949T>A (p.Leu1650Gln) c.4982T>A (p.Leu1661Gln) c.1373T>A n.3032T>A c.3804T>A c.5021T>A (p.Leu1674Gln) n.747T>A c.4952T>A (p.Leu1651Gln) c.5018T>A (p.Leu1673Gln) c.4943T>A (p.Leu1648Gln) n.2798T>A c.5075T>A (p.Leu1692Gln) c.4946T>A (p.Leu1649Gln) c.5071T>A n.3234T>A c.5144T>A (p.Leu1715Gln) n.3965T>A n.2402T>A n.2373T>A n.2263T>A c.4805T>A (p.Leu1602Gln) c.*4317T>A (n.*4317T>A) c.4841T>A (p.Leu1614Gln) n.2873T>A c.1332T>A n.2265T>A c.5204T>A (p.Leu1735Gln) c.5201T>A (p.Leu1734Gln) c.5093T>A (p.Leu1698Gln) c.5072T>A (p.Leu1691Gln) c.4418T>A (p.Leu1473Gln) c.5366T>A (p.Leu1789Gln) c.5114T>A (p.Leu1705Gln) c.3860T>A (p.Leu1287Gln) | |
16 | g.2088129T>C | CA021894 | TSC2 | c.*3499T>C (n.*3499T>C) c.4997T>C (p.Leu1666Pro) c.5147T>C (p.Leu1716Pro) c.*5663T>C (n.*5663T>C) c.*7899T>C (n.*7899T>C) c.5150T>C (p.Leu1717Pro) c.5081T>C (p.Leu1694Pro) c.4949T>C (p.Leu1650Pro) c.4982T>C (p.Leu1661Pro) c.1373T>C n.3032T>C c.3804T>C c.5021T>C (p.Leu1674Pro) n.747T>C c.4952T>C (p.Leu1651Pro) c.5018T>C (p.Leu1673Pro) c.4943T>C (p.Leu1648Pro) n.2798T>C c.5075T>C (p.Leu1692Pro) c.4946T>C (p.Leu1649Pro) c.5071T>C n.3234T>C c.5144T>C (p.Leu1715Pro) n.3965T>C n.2402T>C n.2373T>C n.2263T>C c.4805T>C (p.Leu1602Pro) c.*4317T>C (n.*4317T>C) c.4841T>C (p.Leu1614Pro) n.2873T>C c.1332T>C n.2265T>C c.5204T>C (p.Leu1735Pro) c.5201T>C (p.Leu1734Pro) c.5093T>C (p.Leu1698Pro) c.5072T>C (p.Leu1691Pro) c.4418T>C (p.Leu1473Pro) c.5366T>C (p.Leu1789Pro) c.5114T>C (p.Leu1705Pro) c.3860T>C (p.Leu1287Pro) | ClinVar dbSNP |
16 | g.2088129T>G | CA394312625 | TSC2 | c.*3499T>G (n.*3499T>G) c.4997T>G (p.Leu1666Arg) c.5147T>G (p.Leu1716Arg) c.*5663T>G (n.*5663T>G) c.*7899T>G (n.*7899T>G) c.5150T>G (p.Leu1717Arg) c.5081T>G (p.Leu1694Arg) c.4949T>G (p.Leu1650Arg) c.4982T>G (p.Leu1661Arg) c.1373T>G n.3032T>G c.3804T>G c.5021T>G (p.Leu1674Arg) n.747T>G c.4952T>G (p.Leu1651Arg) c.5018T>G (p.Leu1673Arg) c.4943T>G (p.Leu1648Arg) n.2798T>G c.5075T>G (p.Leu1692Arg) c.4946T>G (p.Leu1649Arg) c.5071T>G n.3234T>G c.5144T>G (p.Leu1715Arg) n.3965T>G n.2402T>G n.2373T>G n.2263T>G c.4805T>G (p.Leu1602Arg) c.*4317T>G (n.*4317T>G) c.4841T>G (p.Leu1614Arg) n.2873T>G c.1332T>G n.2265T>G c.5204T>G (p.Leu1735Arg) c.5201T>G (p.Leu1734Arg) c.5093T>G (p.Leu1698Arg) c.5072T>G (p.Leu1691Arg) c.4418T>G (p.Leu1473Arg) c.5366T>G (p.Leu1789Arg) c.5114T>G (p.Leu1705Arg) c.3860T>G (p.Leu1287Arg) | ClinVar dbSNP |
16 | g.2088129T= | CA2202030849 | TSC2 | c.*3499T= (n.*3499T=) c.4997T= (p.Leu1666=) c.5147T= (p.Leu1716=) c.*5663T= (n.*5663T=) c.*7899T= (n.*7899T=) c.5150T= (p.Leu1717=) c.5081T= (p.Leu1694=) c.4949T= (p.Leu1650=) c.4982T= (p.Leu1661=) c.1373T= n.3032T= c.3804T= c.5021T= (p.Leu1674=) n.747T= c.4952T= (p.Leu1651=) c.5018T= (p.Leu1673=) c.4943T= (p.Leu1648=) n.2798T= c.5075T= (p.Leu1692=) c.4946T= (p.Leu1649=) c.5071T= n.3234T= c.5144T= (p.Leu1715=) n.3965T= n.2402T= n.2373T= n.2263T= c.4805T= (p.Leu1602=) c.*4317T= (n.*4317T=) c.4841T= (p.Leu1614=) n.2873T= c.1332T= n.2265T= c.5204T= (p.Leu1735=) c.5201T= (p.Leu1734=) c.5093T= (p.Leu1698=) c.5072T= (p.Leu1691=) c.4418T= (p.Leu1473=) c.5366T= (p.Leu1789=) c.5114T= (p.Leu1705=) c.3860T= (p.Leu1287=) | |
16 | g.2088131_2088140del | CA021882 | TSC2 | c.*3501_*3509+1del c.4999_5007+1del c.5149_5157+1del c.*5665_*5673+1del c.*7901_*7909+1del c.5152_5160+1del c.5083_5091+1del c.4951_4959+1del c.4984_4992+1del c.1375_1383+1del n.3034_3042+1del c.3806_3814+1del c.5023_5031+1del n.749_757+1del c.4954_4962+1del c.5020_5028+1del c.4945_4953+1del n.2800_2808+1del c.5077_5085+1del c.4951_4960del (p.His1651Ter) c.4948_4956+1del c.5073_5081+1del n.3236_3244+1del c.5146_5154+1del n.3967_3975+1del n.2404_2412+1del n.2375_2383+1del n.2265_2273+1del c.4807_4815+1del c.*4319_*4327+1del c.4843_4851+1del n.2875_2883+1del c.1334_1342+1del n.2267_2275+1del c.5206_5214+1del c.5203_5211+1del c.5095_5103+1del c.5074_5082+1del c.4420_4428+1del c.5368_5376+1del c.5116_5124+1del c.3862_3870+1del | ClinVar dbSNP |
16 | g.2088130G>A | CA493043700 | TSC2 | c.*3500G>A (n.*3500G>A) c.4998G>A (p.Leu1666=) c.5148G>A (p.Leu1716=) c.*5664G>A (n.*5664G>A) c.*7900G>A (n.*7900G>A) c.5151G>A (p.Leu1717=) c.5082G>A (p.Leu1694=) c.4950G>A (p.Leu1650=) c.4983G>A (p.Leu1661=) c.1374G>A n.3033G>A c.3805G>A c.5022G>A (p.Leu1674=) n.748G>A c.4953G>A (p.Leu1651=) c.5019G>A (p.Leu1673=) c.4944G>A (p.Leu1648=) n.2799G>A c.5076G>A (p.Leu1692=) c.4947G>A (p.Leu1649=) c.5072G>A n.3235G>A c.5145G>A (p.Leu1715=) n.3966G>A n.2403G>A n.2374G>A n.2264G>A c.4806G>A (p.Leu1602=) c.*4318G>A (n.*4318G>A) c.4842G>A (p.Leu1614=) n.2874G>A c.1333G>A n.2266G>A c.5205G>A (p.Leu1735=) c.5202G>A (p.Leu1734=) c.5094G>A (p.Leu1698=) c.5073G>A (p.Leu1691=) c.4419G>A (p.Leu1473=) c.5367G>A (p.Leu1789=) c.5115G>A (p.Leu1705=) c.3861G>A (p.Leu1287=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088130G>C | CA493043699 | TSC2 | c.*3500G>C (n.*3500G>C) c.4998G>C (p.Leu1666=) c.5148G>C (p.Leu1716=) c.*5664G>C (n.*5664G>C) c.*7900G>C (n.*7900G>C) c.5151G>C (p.Leu1717=) c.5082G>C (p.Leu1694=) c.4950G>C (p.Leu1650=) c.4983G>C (p.Leu1661=) c.1374G>C n.3033G>C c.3805G>C c.5022G>C (p.Leu1674=) n.748G>C c.4953G>C (p.Leu1651=) c.5019G>C (p.Leu1673=) c.4944G>C (p.Leu1648=) n.2799G>C c.5076G>C (p.Leu1692=) c.4947G>C (p.Leu1649=) c.5072G>C n.3235G>C c.5145G>C (p.Leu1715=) n.3966G>C n.2403G>C n.2374G>C n.2264G>C c.4806G>C (p.Leu1602=) c.*4318G>C (n.*4318G>C) c.4842G>C (p.Leu1614=) n.2874G>C c.1333G>C n.2266G>C c.5205G>C (p.Leu1735=) c.5202G>C (p.Leu1734=) c.5094G>C (p.Leu1698=) c.5073G>C (p.Leu1691=) c.4419G>C (p.Leu1473=) c.5367G>C (p.Leu1789=) c.5115G>C (p.Leu1705=) c.3861G>C (p.Leu1287=) | dbSNP |
16 | g.2088130G= | CA2202030860 | TSC2 | c.*3500G= (n.*3500G=) c.4998G= (p.Leu1666=) c.5148G= (p.Leu1716=) c.*5664G= (n.*5664G=) c.*7900G= (n.*7900G=) c.5151G= (p.Leu1717=) c.5082G= (p.Leu1694=) c.4950G= (p.Leu1650=) c.4983G= (p.Leu1661=) c.1374G= n.3033G= c.3805G= c.5022G= (p.Leu1674=) n.748G= c.4953G= (p.Leu1651=) c.5019G= (p.Leu1673=) c.4944G= (p.Leu1648=) n.2799G= c.5076G= (p.Leu1692=) c.4947G= (p.Leu1649=) c.5072G= n.3235G= c.5145G= (p.Leu1715=) n.3966G= n.2403G= n.2374G= n.2264G= c.4806G= (p.Leu1602=) c.*4318G= (n.*4318G=) c.4842G= (p.Leu1614=) n.2874G= c.1333G= n.2266G= c.5205G= (p.Leu1735=) c.5202G= (p.Leu1734=) c.5094G= (p.Leu1698=) c.5073G= (p.Leu1691=) c.4419G= (p.Leu1473=) c.5367G= (p.Leu1789=) c.5115G= (p.Leu1705=) c.3861G= (p.Leu1287=) | |
16 | g.2088130G>T | CA493043696 | TSC2 | c.*3500G>T (n.*3500G>T) c.4998G>T (p.Leu1666=) c.5148G>T (p.Leu1716=) c.*5664G>T (n.*5664G>T) c.*7900G>T (n.*7900G>T) c.5151G>T (p.Leu1717=) c.5082G>T (p.Leu1694=) c.4950G>T (p.Leu1650=) c.4983G>T (p.Leu1661=) c.1374G>T n.3033G>T c.3805G>T c.5022G>T (p.Leu1674=) n.748G>T c.4953G>T (p.Leu1651=) c.5019G>T (p.Leu1673=) c.4944G>T (p.Leu1648=) n.2799G>T c.5076G>T (p.Leu1692=) c.4947G>T (p.Leu1649=) c.5072G>T n.3235G>T c.5145G>T (p.Leu1715=) n.3966G>T n.2403G>T n.2374G>T n.2264G>T c.4806G>T (p.Leu1602=) c.*4318G>T (n.*4318G>T) c.4842G>T (p.Leu1614=) n.2874G>T c.1333G>T n.2266G>T c.5205G>T (p.Leu1735=) c.5202G>T (p.Leu1734=) c.5094G>T (p.Leu1698=) c.5073G>T (p.Leu1691=) c.4419G>T (p.Leu1473=) c.5367G>T (p.Leu1789=) c.5115G>T (p.Leu1705=) c.3861G>T (p.Leu1287=) | dbSNP |
16 | g.2088133_2088136dup | CA021906 | TSC2 | c.*3503_*3506dup (n.*3503_*3506dup) c.5001_5004dup (p.Asn1669ArgfsTer10) c.5151_5154dup (p.Asn1719ArgfsTer10) c.*5667_*5670dup (n.*5667_*5670dup) c.*7903_*7906dup (n.*7903_*7906dup) c.5154_5157dup (p.Asn1720ArgfsTer10) c.5085_5088dup (p.Asn1697ArgfsTer10) c.4953_4956dup (p.Asn1653ArgfsTer10) c.4986_4989dup (p.Asn1664ArgfsTer10) c.1377_1380dup n.3036_3039dup c.3808_3811dup c.5025_5028dup (p.Asn1677ArgfsTer6) n.751_754dup c.4956_4959dup (p.Asn1654ArgfsTer10) c.5022_5025dup (p.Asn1676ArgfsTer10) c.4947_4950dup (p.Asn1651ArgfsTer10) n.2802_2805dup c.5079_5082dup (p.Asn1695ArgfsTer10) c.5025_5028dup (p.Asn1677ArgfsTer10) c.4953_4956dup (p.Asn1653ArgfsTer11) c.4950_4953dup (p.Asn1652ArgfsTer10) c.5075_5078dup n.3238_3241dup c.5148_5151dup (p.Asn1718ArgfsTer10) n.3969_3972dup n.2406_2409dup n.2377_2380dup n.2267_2270dup c.4809_4812dup (p.Asn1605ArgfsTer10) c.*4321_*4324dup (n.*4321_*4324dup) c.4845_4848dup (p.Asn1617ArgfsTer10) n.2877_2880dup c.1336_1339dup n.2269_2272dup c.5208_5211dup (p.Asn1738ArgfsTer10) c.5205_5208dup (p.Asn1737ArgfsTer10) c.5097_5100dup (p.Asn1701ArgfsTer10) c.5076_5079dup (p.Asn1694ArgfsTer10) c.4422_4425dup (p.Asn1476ArgfsTer10) c.5370_5373dup (p.Asn1792ArgfsTer10) c.5118_5121dup (p.Asn1708ArgfsTer10) c.3864_3867dup (p.Asn1290ArgfsTer10) | ClinVar dbSNP |
16 | g.2088131C>A | CA394312636 | TSC2 | c.*3501C>A (n.*3501C>A) c.4999C>A (p.His1667Asn) c.5149C>A (p.His1717Asn) c.*5665C>A (n.*5665C>A) c.*7901C>A (n.*7901C>A) c.5152C>A (p.His1718Asn) c.5083C>A (p.His1695Asn) c.4951C>A (p.His1651Asn) c.4984C>A (p.His1662Asn) c.1375C>A n.3034C>A c.3806C>A c.5023C>A (p.His1675Asn) n.749C>A c.4954C>A (p.His1652Asn) c.5020C>A (p.His1674Asn) c.4945C>A (p.His1649Asn) n.2800C>A c.5077C>A (p.His1693Asn) c.4948C>A (p.His1650Asn) c.5073C>A n.3236C>A c.5146C>A (p.His1716Asn) n.3967C>A n.2404C>A n.2375C>A n.2265C>A c.4807C>A (p.His1603Asn) c.*4319C>A (n.*4319C>A) c.4843C>A (p.His1615Asn) n.2875C>A c.1334C>A n.2267C>A c.5206C>A (p.His1736Asn) c.5203C>A (p.His1735Asn) c.5095C>A (p.His1699Asn) c.5074C>A (p.His1692Asn) c.4420C>A (p.His1474Asn) c.5368C>A (p.His1790Asn) c.5116C>A (p.His1706Asn) c.3862C>A (p.His1288Asn) | |
16 | g.2088131C= | CA2202030870 | TSC2 | c.*3501C= (n.*3501C=) c.4999C= (p.His1667=) c.5149C= (p.His1717=) c.*5665C= (n.*5665C=) c.*7901C= (n.*7901C=) c.5152C= (p.His1718=) c.5083C= (p.His1695=) c.4951C= (p.His1651=) c.4984C= (p.His1662=) c.1375C= n.3034C= c.3806C= c.5023C= (p.His1675=) n.749C= c.4954C= (p.His1652=) c.5020C= (p.His1674=) c.4945C= (p.His1649=) n.2800C= c.5077C= (p.His1693=) c.4948C= (p.His1650=) c.5073C= n.3236C= c.5146C= (p.His1716=) n.3967C= n.2404C= n.2375C= n.2265C= c.4807C= (p.His1603=) c.*4319C= (n.*4319C=) c.4843C= (p.His1615=) n.2875C= c.1334C= n.2267C= c.5206C= (p.His1736=) c.5203C= (p.His1735=) c.5095C= (p.His1699=) c.5074C= (p.His1692=) c.4420C= (p.His1474=) c.5368C= (p.His1790=) c.5116C= (p.His1706=) c.3862C= (p.His1288=) | |
16 | g.2088131C>G | CA394312634 | TSC2 | c.*3501C>G (n.*3501C>G) c.4999C>G (p.His1667Asp) c.5149C>G (p.His1717Asp) c.*5665C>G (n.*5665C>G) c.*7901C>G (n.*7901C>G) c.5152C>G (p.His1718Asp) c.5083C>G (p.His1695Asp) c.4951C>G (p.His1651Asp) c.4984C>G (p.His1662Asp) c.1375C>G n.3034C>G c.3806C>G c.5023C>G (p.His1675Asp) n.749C>G c.4954C>G (p.His1652Asp) c.5020C>G (p.His1674Asp) c.4945C>G (p.His1649Asp) n.2800C>G c.5077C>G (p.His1693Asp) c.4948C>G (p.His1650Asp) c.5073C>G n.3236C>G c.5146C>G (p.His1716Asp) n.3967C>G n.2404C>G n.2375C>G n.2265C>G c.4807C>G (p.His1603Asp) c.*4319C>G (n.*4319C>G) c.4843C>G (p.His1615Asp) n.2875C>G c.1334C>G n.2267C>G c.5206C>G (p.His1736Asp) c.5203C>G (p.His1735Asp) c.5095C>G (p.His1699Asp) c.5074C>G (p.His1692Asp) c.4420C>G (p.His1474Asp) c.5368C>G (p.His1790Asp) c.5116C>G (p.His1706Asp) c.3862C>G (p.His1288Asp) | ClinVar dbSNP |
16 | g.2088131C>T | CA394312632 | TSC2 | c.*3501C>T (n.*3501C>T) c.4999C>T (p.His1667Tyr) c.5149C>T (p.His1717Tyr) c.*5665C>T (n.*5665C>T) c.*7901C>T (n.*7901C>T) c.5152C>T (p.His1718Tyr) c.5083C>T (p.His1695Tyr) c.4951C>T (p.His1651Tyr) c.4984C>T (p.His1662Tyr) c.1375C>T n.3034C>T c.3806C>T c.5023C>T (p.His1675Tyr) n.749C>T c.4954C>T (p.His1652Tyr) c.5020C>T (p.His1674Tyr) c.4945C>T (p.His1649Tyr) n.2800C>T c.5077C>T (p.His1693Tyr) c.4948C>T (p.His1650Tyr) c.5073C>T n.3236C>T c.5146C>T (p.His1716Tyr) n.3967C>T n.2404C>T n.2375C>T n.2265C>T c.4807C>T (p.His1603Tyr) c.*4319C>T (n.*4319C>T) c.4843C>T (p.His1615Tyr) n.2875C>T c.1334C>T n.2267C>T c.5206C>T (p.His1736Tyr) c.5203C>T (p.His1735Tyr) c.5095C>T (p.His1699Tyr) c.5074C>T (p.His1692Tyr) c.4420C>T (p.His1474Tyr) c.5368C>T (p.His1790Tyr) c.5116C>T (p.His1706Tyr) c.3862C>T (p.His1288Tyr) | ClinVar dbSNP |
16 | g.2088132A>C | CA394312639 | TSC2 | c.*3502A>C (n.*3502A>C) c.5000A>C (p.His1667Pro) c.5150A>C (p.His1717Pro) c.*5666A>C (n.*5666A>C) c.*7902A>C (n.*7902A>C) c.5153A>C (p.His1718Pro) c.5084A>C (p.His1695Pro) c.4952A>C (p.His1651Pro) c.4985A>C (p.His1662Pro) c.1376A>C n.3035A>C c.3807A>C c.5024A>C (p.His1675Pro) n.750A>C c.4955A>C (p.His1652Pro) c.5021A>C (p.His1674Pro) c.4946A>C (p.His1649Pro) n.2801A>C c.5078A>C (p.His1693Pro) c.4949A>C (p.His1650Pro) c.5074A>C n.3237A>C c.5147A>C (p.His1716Pro) n.3968A>C n.2405A>C n.2376A>C n.2266A>C c.4808A>C (p.His1603Pro) c.*4320A>C (n.*4320A>C) c.4844A>C (p.His1615Pro) n.2876A>C c.1335A>C n.2268A>C c.5207A>C (p.His1736Pro) c.5204A>C (p.His1735Pro) c.5096A>C (p.His1699Pro) c.5075A>C (p.His1692Pro) c.4421A>C (p.His1474Pro) c.5369A>C (p.His1790Pro) c.5117A>C (p.His1706Pro) c.3863A>C (p.His1288Pro) | dbSNP |
16 | g.2088132A>G | CA394312642 | TSC2 | c.*3502A>G (n.*3502A>G) c.5000A>G (p.His1667Arg) c.5150A>G (p.His1717Arg) c.*5666A>G (n.*5666A>G) c.*7902A>G (n.*7902A>G) c.5153A>G (p.His1718Arg) c.5084A>G (p.His1695Arg) c.4952A>G (p.His1651Arg) c.4985A>G (p.His1662Arg) c.1376A>G n.3035A>G c.3807A>G c.5024A>G (p.His1675Arg) n.750A>G c.4955A>G (p.His1652Arg) c.5021A>G (p.His1674Arg) c.4946A>G (p.His1649Arg) n.2801A>G c.5078A>G (p.His1693Arg) c.4949A>G (p.His1650Arg) c.5074A>G n.3237A>G c.5147A>G (p.His1716Arg) n.3968A>G n.2405A>G n.2376A>G n.2266A>G c.4808A>G (p.His1603Arg) c.*4320A>G (n.*4320A>G) c.4844A>G (p.His1615Arg) n.2876A>G c.1335A>G n.2268A>G c.5207A>G (p.His1736Arg) c.5204A>G (p.His1735Arg) c.5096A>G (p.His1699Arg) c.5075A>G (p.His1692Arg) c.4421A>G (p.His1474Arg) c.5369A>G (p.His1790Arg) c.5117A>G (p.His1706Arg) c.3863A>G (p.His1288Arg) | ClinVar |
16 | g.2088132A>T | CA394312645 | TSC2 | c.*3502A>T (n.*3502A>T) c.5000A>T (p.His1667Leu) c.5150A>T (p.His1717Leu) c.*5666A>T (n.*5666A>T) c.*7902A>T (n.*7902A>T) c.5153A>T (p.His1718Leu) c.5084A>T (p.His1695Leu) c.4952A>T (p.His1651Leu) c.4985A>T (p.His1662Leu) c.1376A>T n.3035A>T c.3807A>T c.5024A>T (p.His1675Leu) n.750A>T c.4955A>T (p.His1652Leu) c.5021A>T (p.His1674Leu) c.4946A>T (p.His1649Leu) n.2801A>T c.5078A>T (p.His1693Leu) c.4949A>T (p.His1650Leu) c.5074A>T n.3237A>T c.5147A>T (p.His1716Leu) n.3968A>T n.2405A>T n.2376A>T n.2266A>T c.4808A>T (p.His1603Leu) c.*4320A>T (n.*4320A>T) c.4844A>T (p.His1615Leu) n.2876A>T c.1335A>T n.2268A>T c.5207A>T (p.His1736Leu) c.5204A>T (p.His1735Leu) c.5096A>T (p.His1699Leu) c.5075A>T (p.His1692Leu) c.4421A>T (p.His1474Leu) c.5369A>T (p.His1790Leu) c.5117A>T (p.His1706Leu) c.3863A>T (p.His1288Leu) | ClinVar dbSNP |
16 | g.2088133C>A | CA394312649 | TSC2 | c.*3503C>A (n.*3503C>A) c.5001C>A (p.His1667Gln) c.5151C>A (p.His1717Gln) c.*5667C>A (n.*5667C>A) c.*7903C>A (n.*7903C>A) c.5154C>A (p.His1718Gln) c.5085C>A (p.His1695Gln) c.4953C>A (p.His1651Gln) c.4986C>A (p.His1662Gln) c.1377C>A n.3036C>A c.3808C>A c.5025C>A (p.His1675Gln) n.751C>A c.4956C>A (p.His1652Gln) c.5022C>A (p.His1674Gln) c.4947C>A (p.His1649Gln) n.2802C>A c.5079C>A (p.His1693Gln) c.4950C>A (p.His1650Gln) c.5075C>A n.3238C>A c.5148C>A (p.His1716Gln) n.3969C>A n.2406C>A n.2377C>A n.2267C>A c.4809C>A (p.His1603Gln) c.*4321C>A (n.*4321C>A) c.4845C>A (p.His1615Gln) n.2877C>A c.1336C>A n.2269C>A c.5208C>A (p.His1736Gln) c.5205C>A (p.His1735Gln) c.5097C>A (p.His1699Gln) c.5076C>A (p.His1692Gln) c.4422C>A (p.His1474Gln) c.5370C>A (p.His1790Gln) c.5118C>A (p.His1706Gln) c.3864C>A (p.His1288Gln) | dbSNP |
16 | g.2088133C= | CA2202030880 | TSC2 | c.*3503C= (n.*3503C=) c.5001C= (p.His1667=) c.5151C= (p.His1717=) c.*5667C= (n.*5667C=) c.*7903C= (n.*7903C=) c.5154C= (p.His1718=) c.5085C= (p.His1695=) c.4953C= (p.His1651=) c.4986C= (p.His1662=) c.1377C= n.3036C= c.3808C= c.5025C= (p.His1675=) n.751C= c.4956C= (p.His1652=) c.5022C= (p.His1674=) c.4947C= (p.His1649=) n.2802C= c.5079C= (p.His1693=) c.4950C= (p.His1650=) c.5075C= n.3238C= c.5148C= (p.His1716=) n.3969C= n.2406C= n.2377C= n.2267C= c.4809C= (p.His1603=) c.*4321C= (n.*4321C=) c.4845C= (p.His1615=) n.2877C= c.1336C= n.2269C= c.5208C= (p.His1736=) c.5205C= (p.His1735=) c.5097C= (p.His1699=) c.5076C= (p.His1692=) c.4422C= (p.His1474=) c.5370C= (p.His1790=) c.5118C= (p.His1706=) c.3864C= (p.His1288=) | |
16 | g.2088133C>G | CA394312651 | TSC2 | c.*3503C>G (n.*3503C>G) c.5001C>G (p.His1667Gln) c.5151C>G (p.His1717Gln) c.*5667C>G (n.*5667C>G) c.*7903C>G (n.*7903C>G) c.5154C>G (p.His1718Gln) c.5085C>G (p.His1695Gln) c.4953C>G (p.His1651Gln) c.4986C>G (p.His1662Gln) c.1377C>G n.3036C>G c.3808C>G c.5025C>G (p.His1675Gln) n.751C>G c.4956C>G (p.His1652Gln) c.5022C>G (p.His1674Gln) c.4947C>G (p.His1649Gln) n.2802C>G c.5079C>G (p.His1693Gln) c.4950C>G (p.His1650Gln) c.5075C>G n.3238C>G c.5148C>G (p.His1716Gln) n.3969C>G n.2406C>G n.2377C>G n.2267C>G c.4809C>G (p.His1603Gln) c.*4321C>G (n.*4321C>G) c.4845C>G (p.His1615Gln) n.2877C>G c.1336C>G n.2269C>G c.5208C>G (p.His1736Gln) c.5205C>G (p.His1735Gln) c.5097C>G (p.His1699Gln) c.5076C>G (p.His1692Gln) c.4422C>G (p.His1474Gln) c.5370C>G (p.His1790Gln) c.5118C>G (p.His1706Gln) c.3864C>G (p.His1288Gln) | dbSNP gnomAD v2 |
16 | g.2088133C>T | CA054071 | TSC2 | c.*3503C>T (n.*3503C>T) c.5001C>T (p.His1667=) c.5151C>T (p.His1717=) c.*5667C>T (n.*5667C>T) c.*7903C>T (n.*7903C>T) c.5154C>T (p.His1718=) c.5085C>T (p.His1695=) c.4953C>T (p.His1651=) c.4986C>T (p.His1662=) c.1377C>T n.3036C>T c.3808C>T c.5025C>T (p.His1675=) n.751C>T c.4956C>T (p.His1652=) c.5022C>T (p.His1674=) c.4947C>T (p.His1649=) n.2802C>T c.5079C>T (p.His1693=) c.4950C>T (p.His1650=) c.5075C>T n.3238C>T c.5148C>T (p.His1716=) n.3969C>T n.2406C>T n.2377C>T n.2267C>T c.4809C>T (p.His1603=) c.*4321C>T (n.*4321C>T) c.4845C>T (p.His1615=) n.2877C>T c.1336C>T n.2269C>T c.5208C>T (p.His1736=) c.5205C>T (p.His1735=) c.5097C>T (p.His1699=) c.5076C>T (p.His1692=) c.4422C>T (p.His1474=) c.5370C>T (p.His1790=) c.5118C>T (p.His1706=) c.3864C>T (p.His1288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.2088134G>A | CA021901 | TSC2 | c.*3504G>A (n.*3504G>A) c.5002G>A (p.Ala1668Thr) c.5152G>A (p.Ala1718Thr) c.*5668G>A (n.*5668G>A) c.*7904G>A (n.*7904G>A) c.5155G>A (p.Ala1719Thr) c.5086G>A (p.Ala1696Thr) c.4954G>A (p.Ala1652Thr) c.4987G>A (p.Ala1663Thr) c.1378G>A n.3037G>A c.3809G>A c.5026G>A (p.Ala1676Thr) n.752G>A c.4957G>A (p.Ala1653Thr) c.5023G>A (p.Ala1675Thr) c.4948G>A (p.Ala1650Thr) n.2803G>A c.5080G>A (p.Ala1694Thr) c.4951G>A (p.Ala1651Thr) c.5076G>A n.3239G>A c.5149G>A (p.Ala1717Thr) n.3970G>A n.2407G>A n.2378G>A n.2268G>A c.4810G>A (p.Ala1604Thr) c.*4322G>A (n.*4322G>A) c.4846G>A (p.Ala1616Thr) n.2878G>A c.1337G>A n.2270G>A c.5209G>A (p.Ala1737Thr) c.5206G>A (p.Ala1736Thr) c.5098G>A (p.Ala1700Thr) c.5077G>A (p.Ala1693Thr) c.4423G>A (p.Ala1475Thr) c.5371G>A (p.Ala1791Thr) c.5119G>A (p.Ala1707Thr) c.3865G>A (p.Ala1289Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
16 | g.2088134G>C | CA394312660 | TSC2 | c.*3504G>C (n.*3504G>C) c.5002G>C (p.Ala1668Pro) c.5152G>C (p.Ala1718Pro) c.*5668G>C (n.*5668G>C) c.*7904G>C (n.*7904G>C) c.5155G>C (p.Ala1719Pro) c.5086G>C (p.Ala1696Pro) c.4954G>C (p.Ala1652Pro) c.4987G>C (p.Ala1663Pro) c.1378G>C n.3037G>C c.3809G>C c.5026G>C (p.Ala1676Pro) n.752G>C c.4957G>C (p.Ala1653Pro) c.5023G>C (p.Ala1675Pro) c.4948G>C (p.Ala1650Pro) n.2803G>C c.5080G>C (p.Ala1694Pro) c.4951G>C (p.Ala1651Pro) c.5076G>C n.3239G>C c.5149G>C (p.Ala1717Pro) n.3970G>C n.2407G>C n.2378G>C n.2268G>C c.4810G>C (p.Ala1604Pro) c.*4322G>C (n.*4322G>C) c.4846G>C (p.Ala1616Pro) n.2878G>C c.1337G>C n.2270G>C c.5209G>C (p.Ala1737Pro) c.5206G>C (p.Ala1736Pro) c.5098G>C (p.Ala1700Pro) c.5077G>C (p.Ala1693Pro) c.4423G>C (p.Ala1475Pro) c.5371G>C (p.Ala1791Pro) c.5119G>C (p.Ala1707Pro) c.3865G>C (p.Ala1289Pro) | ClinVar dbSNP |
16 | g.2088134G= | CA2202030893 | TSC2 | c.*3504G= (n.*3504G=) c.5002G= (p.Ala1668=) c.5152G= (p.Ala1718=) c.*5668G= (n.*5668G=) c.*7904G= (n.*7904G=) c.5155G= (p.Ala1719=) c.5086G= (p.Ala1696=) c.4954G= (p.Ala1652=) c.4987G= (p.Ala1663=) c.1378G= n.3037G= c.3809G= c.5026G= (p.Ala1676=) n.752G= c.4957G= (p.Ala1653=) c.5023G= (p.Ala1675=) c.4948G= (p.Ala1650=) n.2803G= c.5080G= (p.Ala1694=) c.4951G= (p.Ala1651=) c.5076G= n.3239G= c.5149G= (p.Ala1717=) n.3970G= n.2407G= n.2378G= n.2268G= c.4810G= (p.Ala1604=) c.*4322G= (n.*4322G=) c.4846G= (p.Ala1616=) n.2878G= c.1337G= n.2270G= c.5209G= (p.Ala1737=) c.5206G= (p.Ala1736=) c.5098G= (p.Ala1700=) c.5077G= (p.Ala1693=) c.4423G= (p.Ala1475=) c.5371G= (p.Ala1791=) c.5119G= (p.Ala1707=) c.3865G= (p.Ala1289=) | |
16 | g.2088134G>T | CA394312663 | TSC2 | c.*3504G>T (n.*3504G>T) c.5002G>T (p.Ala1668Ser) c.5152G>T (p.Ala1718Ser) c.*5668G>T (n.*5668G>T) c.*7904G>T (n.*7904G>T) c.5155G>T (p.Ala1719Ser) c.5086G>T (p.Ala1696Ser) c.4954G>T (p.Ala1652Ser) c.4987G>T (p.Ala1663Ser) c.1378G>T n.3037G>T c.3809G>T c.5026G>T (p.Ala1676Ser) n.752G>T c.4957G>T (p.Ala1653Ser) c.5023G>T (p.Ala1675Ser) c.4948G>T (p.Ala1650Ser) n.2803G>T c.5080G>T (p.Ala1694Ser) c.4951G>T (p.Ala1651Ser) c.5076G>T n.3239G>T c.5149G>T (p.Ala1717Ser) n.3970G>T n.2407G>T n.2378G>T n.2268G>T c.4810G>T (p.Ala1604Ser) c.*4322G>T (n.*4322G>T) c.4846G>T (p.Ala1616Ser) n.2878G>T c.1337G>T n.2270G>T c.5209G>T (p.Ala1737Ser) c.5206G>T (p.Ala1736Ser) c.5098G>T (p.Ala1700Ser) c.5077G>T (p.Ala1693Ser) c.4423G>T (p.Ala1475Ser) c.5371G>T (p.Ala1791Ser) c.5119G>T (p.Ala1707Ser) c.3865G>T (p.Ala1289Ser) | dbSNP |
16 | g.2088135C>A | CA394312666 | TSC2 | c.*3505C>A (n.*3505C>A) c.5003C>A (p.Ala1668Glu) c.5153C>A (p.Ala1718Glu) c.*5669C>A (n.*5669C>A) c.*7905C>A (n.*7905C>A) c.5156C>A (p.Ala1719Glu) c.5087C>A (p.Ala1696Glu) c.4955C>A (p.Ala1652Glu) c.4988C>A (p.Ala1663Glu) c.1379C>A n.3038C>A c.3810C>A c.5027C>A (p.Ala1676Glu) n.753C>A c.4958C>A (p.Ala1653Glu) c.5024C>A (p.Ala1675Glu) c.4949C>A (p.Ala1650Glu) n.2804C>A c.5081C>A (p.Ala1694Glu) c.4952C>A (p.Ala1651Glu) c.5077C>A n.3240C>A c.5150C>A (p.Ala1717Glu) n.3971C>A n.2408C>A n.2379C>A n.2269C>A c.4811C>A (p.Ala1604Glu) c.*4323C>A (n.*4323C>A) c.4847C>A (p.Ala1616Glu) n.2879C>A c.1338C>A n.2271C>A c.5210C>A (p.Ala1737Glu) c.5207C>A (p.Ala1736Glu) c.5099C>A (p.Ala1700Glu) c.5078C>A (p.Ala1693Glu) c.4424C>A (p.Ala1475Glu) c.5372C>A (p.Ala1791Glu) c.5120C>A (p.Ala1707Glu) c.3866C>A (p.Ala1289Glu) | ClinVar |
16 | g.2088135C= | CA2202030899 | TSC2 | c.*3505C= (n.*3505C=) c.5003C= (p.Ala1668=) c.5153C= (p.Ala1718=) c.*5669C= (n.*5669C=) c.*7905C= (n.*7905C=) c.5156C= (p.Ala1719=) c.5087C= (p.Ala1696=) c.4955C= (p.Ala1652=) c.4988C= (p.Ala1663=) c.1379C= n.3038C= c.3810C= c.5027C= (p.Ala1676=) n.753C= c.4958C= (p.Ala1653=) c.5024C= (p.Ala1675=) c.4949C= (p.Ala1650=) n.2804C= c.5081C= (p.Ala1694=) c.4952C= (p.Ala1651=) c.5077C= n.3240C= c.5150C= (p.Ala1717=) n.3971C= n.2408C= n.2379C= n.2269C= c.4811C= (p.Ala1604=) c.*4323C= (n.*4323C=) c.4847C= (p.Ala1616=) n.2879C= c.1338C= n.2271C= c.5210C= (p.Ala1737=) c.5207C= (p.Ala1736=) c.5099C= (p.Ala1700=) c.5078C= (p.Ala1693=) c.4424C= (p.Ala1475=) c.5372C= (p.Ala1791=) c.5120C= (p.Ala1707=) c.3866C= (p.Ala1289=) | |
16 | g.2088135C>G | CA394312668 | TSC2 | c.*3505C>G (n.*3505C>G) c.5003C>G (p.Ala1668Gly) c.5153C>G (p.Ala1718Gly) c.*5669C>G (n.*5669C>G) c.*7905C>G (n.*7905C>G) c.5156C>G (p.Ala1719Gly) c.5087C>G (p.Ala1696Gly) c.4955C>G (p.Ala1652Gly) c.4988C>G (p.Ala1663Gly) c.1379C>G n.3038C>G c.3810C>G c.5027C>G (p.Ala1676Gly) n.753C>G c.4958C>G (p.Ala1653Gly) c.5024C>G (p.Ala1675Gly) c.4949C>G (p.Ala1650Gly) n.2804C>G c.5081C>G (p.Ala1694Gly) c.4952C>G (p.Ala1651Gly) c.5077C>G n.3240C>G c.5150C>G (p.Ala1717Gly) n.3971C>G n.2408C>G n.2379C>G n.2269C>G c.4811C>G (p.Ala1604Gly) c.*4323C>G (n.*4323C>G) c.4847C>G (p.Ala1616Gly) n.2879C>G c.1338C>G n.2271C>G c.5210C>G (p.Ala1737Gly) c.5207C>G (p.Ala1736Gly) c.5099C>G (p.Ala1700Gly) c.5078C>G (p.Ala1693Gly) c.4424C>G (p.Ala1475Gly) c.5372C>G (p.Ala1791Gly) c.5120C>G (p.Ala1707Gly) c.3866C>G (p.Ala1289Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.2088135C>T | CA394312671 | TSC2 | c.*3505C>T (n.*3505C>T) c.5003C>T (p.Ala1668Val) c.5153C>T (p.Ala1718Val) c.*5669C>T (n.*5669C>T) c.*7905C>T (n.*7905C>T) c.5156C>T (p.Ala1719Val) c.5087C>T (p.Ala1696Val) c.4955C>T (p.Ala1652Val) c.4988C>T (p.Ala1663Val) c.1379C>T n.3038C>T c.3810C>T c.5027C>T (p.Ala1676Val) n.753C>T c.4958C>T (p.Ala1653Val) c.5024C>T (p.Ala1675Val) c.4949C>T (p.Ala1650Val) n.2804C>T c.5081C>T (p.Ala1694Val) c.4952C>T (p.Ala1651Val) c.5077C>T n.3240C>T c.5150C>T (p.Ala1717Val) n.3971C>T n.2408C>T n.2379C>T n.2269C>T c.4811C>T (p.Ala1604Val) c.*4323C>T (n.*4323C>T) c.4847C>T (p.Ala1616Val) n.2879C>T c.1338C>T n.2271C>T c.5210C>T (p.Ala1737Val) c.5207C>T (p.Ala1736Val) c.5099C>T (p.Ala1700Val) c.5078C>T (p.Ala1693Val) c.4424C>T (p.Ala1475Val) c.5372C>T (p.Ala1791Val) c.5120C>T (p.Ala1707Val) c.3866C>T (p.Ala1289Val) | dbSNP gnomAD v4 |
16 | g.2088135_2088136delinsCA | CA2202030900 | TSC2 | c.*3505_*3506delinsCA (n.*3505_*3506delinsCA) c.5003_5004delinsCA (p.Ala1668=) c.5153_5154delinsCA (p.Ala1718=) c.*5669_*5670delinsCA (n.*5669_*5670delinsCA) c.*7905_*7906delinsCA (n.*7905_*7906delinsCA) c.5156_5157delinsCA (p.Ala1719=) c.5087_5088delinsCA (p.Ala1696=) c.4955_4956delinsCA (p.Ala1652=) c.4988_4989delinsCA (p.Ala1663=) c.1379_1380delinsCA n.3038_3039delinsCA c.3810_3811delinsCA c.5027_5028delinsCA (p.Ala1676=) n.753_754delinsCA c.4958_4959delinsCA (p.Ala1653=) c.5024_5025delinsCA (p.Ala1675=) c.4949_4950delinsCA (p.Ala1650=) n.2804_2805delinsCA c.5081_5082delinsCA (p.Ala1694=) c.4952_4953delinsCA (p.Ala1651=) c.5077_5078delinsCA n.3240_3241delinsCA c.5150_5151delinsCA (p.Ala1717=) n.3971_3972delinsCA n.2408_2409delinsCA n.2379_2380delinsCA n.2269_2270delinsCA c.4811_4812delinsCA (p.Ala1604=) c.*4323_*4324delinsCA (n.*4323_*4324delinsCA) c.4847_4848delinsCA (p.Ala1616=) n.2879_2880delinsCA c.1338_1339delinsCA n.2271_2272delinsCA c.5210_5211delinsCA (p.Ala1737=) c.5207_5208delinsCA (p.Ala1736=) c.5099_5100delinsCA (p.Ala1700=) c.5078_5079delinsCA (p.Ala1693=) c.4424_4425delinsCA (p.Ala1475=) c.5372_5373delinsCA (p.Ala1791=) c.5120_5121delinsCA (p.Ala1707=) c.3866_3867delinsCA (p.Ala1289=) | |
16 | g.2088136A= | CA2202030913 | TSC2 | c.*3506A= (n.*3506A=) c.5004A= (p.Ala1668=) c.5154A= (p.Ala1718=) c.*5670A= (n.*5670A=) c.*7906A= (n.*7906A=) c.5157A= (p.Ala1719=) c.5088A= (p.Ala1696=) c.4956A= (p.Ala1652=) c.4989A= (p.Ala1663=) c.1380A= n.3039A= c.3811A= c.5028A= (p.Ala1676=) n.754A= c.4959A= (p.Ala1653=) c.5025A= (p.Ala1675=) c.4950A= (p.Ala1650=) n.2805A= c.5082A= (p.Ala1694=) c.4953A= (p.Ala1651=) c.5078A= n.3241A= c.5151A= (p.Ala1717=) n.3972A= n.2409A= n.2380A= n.2270A= c.4812A= (p.Ala1604=) c.*4324A= (n.*4324A=) c.4848A= (p.Ala1616=) n.2880A= c.1339A= n.2272A= c.5211A= (p.Ala1737=) c.5208A= (p.Ala1736=) c.5100A= (p.Ala1700=) c.5079A= (p.Ala1693=) c.4425A= (p.Ala1475=) c.5373A= (p.Ala1791=) c.5121A= (p.Ala1707=) c.3867A= (p.Ala1289=) | |
16 | g.2088136A>C | CA493043704 | TSC2 | c.*3506A>C (n.*3506A>C) c.5004A>C (p.Ala1668=) c.5154A>C (p.Ala1718=) c.*5670A>C (n.*5670A>C) c.*7906A>C (n.*7906A>C) c.5157A>C (p.Ala1719=) c.5088A>C (p.Ala1696=) c.4956A>C (p.Ala1652=) c.4989A>C (p.Ala1663=) c.1380A>C n.3039A>C c.3811A>C c.5028A>C (p.Ala1676=) n.754A>C c.4959A>C (p.Ala1653=) c.5025A>C (p.Ala1675=) c.4950A>C (p.Ala1650=) n.2805A>C c.5082A>C (p.Ala1694=) c.4953A>C (p.Ala1651=) c.5078A>C n.3241A>C c.5151A>C (p.Ala1717=) n.3972A>C n.2409A>C n.2380A>C n.2270A>C c.4812A>C (p.Ala1604=) c.*4324A>C (n.*4324A>C) c.4848A>C (p.Ala1616=) n.2880A>C c.1339A>C n.2272A>C c.5211A>C (p.Ala1737=) c.5208A>C (p.Ala1736=) c.5100A>C (p.Ala1700=) c.5079A>C (p.Ala1693=) c.4425A>C (p.Ala1475=) c.5373A>C (p.Ala1791=) c.5121A>C (p.Ala1707=) c.3867A>C (p.Ala1289=) | ClinVar dbSNP |
16 | g.2088136A>G | CA493043705 | TSC2 | c.*3506A>G (n.*3506A>G) c.5004A>G (p.Ala1668=) c.5154A>G (p.Ala1718=) c.*5670A>G (n.*5670A>G) c.*7906A>G (n.*7906A>G) c.5157A>G (p.Ala1719=) c.5088A>G (p.Ala1696=) c.4956A>G (p.Ala1652=) c.4989A>G (p.Ala1663=) c.1380A>G n.3039A>G c.3811A>G c.5028A>G (p.Ala1676=) n.754A>G c.4959A>G (p.Ala1653=) c.5025A>G (p.Ala1675=) c.4950A>G (p.Ala1650=) n.2805A>G c.5082A>G (p.Ala1694=) c.4953A>G (p.Ala1651=) c.5078A>G n.3241A>G c.5151A>G (p.Ala1717=) n.3972A>G n.2409A>G n.2380A>G n.2270A>G c.4812A>G (p.Ala1604=) c.*4324A>G (n.*4324A>G) c.4848A>G (p.Ala1616=) n.2880A>G c.1339A>G n.2272A>G c.5211A>G (p.Ala1737=) c.5208A>G (p.Ala1736=) c.5100A>G (p.Ala1700=) c.5079A>G (p.Ala1693=) c.4425A>G (p.Ala1475=) c.5373A>G (p.Ala1791=) c.5121A>G (p.Ala1707=) c.3867A>G (p.Ala1289=) | ClinVar |
16 | g.2088136A>T | CA493043706 | TSC2 | c.*3506A>T (n.*3506A>T) c.5004A>T (p.Ala1668=) c.5154A>T (p.Ala1718=) c.*5670A>T (n.*5670A>T) c.*7906A>T (n.*7906A>T) c.5157A>T (p.Ala1719=) c.5088A>T (p.Ala1696=) c.4956A>T (p.Ala1652=) c.4989A>T (p.Ala1663=) c.1380A>T n.3039A>T c.3811A>T c.5028A>T (p.Ala1676=) n.754A>T c.4959A>T (p.Ala1653=) c.5025A>T (p.Ala1675=) c.4950A>T (p.Ala1650=) n.2805A>T c.5082A>T (p.Ala1694=) c.4953A>T (p.Ala1651=) c.5078A>T n.3241A>T c.5151A>T (p.Ala1717=) n.3972A>T n.2409A>T n.2380A>T n.2270A>T c.4812A>T (p.Ala1604=) c.*4324A>T (n.*4324A>T) c.4848A>T (p.Ala1616=) n.2880A>T c.1339A>T n.2272A>T c.5211A>T (p.Ala1737=) c.5208A>T (p.Ala1736=) c.5100A>T (p.Ala1700=) c.5079A>T (p.Ala1693=) c.4425A>T (p.Ala1475=) c.5373A>T (p.Ala1791=) c.5121A>T (p.Ala1707=) c.3867A>T (p.Ala1289=) | dbSNP |
16 | g.2088138del | CA021910 | TSC2 | c.*3508del (n.*3508del) c.5006del (p.Asn1669IlefsTer?) c.5156del (p.Asn1719IlefsTer?) c.*5672del (n.*5672del) c.*7908del (n.*7908del) c.5159del (p.Asn1720IlefsTer?) c.5090del (p.Asn1697IlefsTer?) c.4958del (p.Asn1653IlefsTer?) c.4991del (p.Asn1664IlefsTer?) c.1382del n.3041del c.3813del c.5030del (p.Asn1677MetfsTer?) n.756del c.4961del (p.Asn1654IlefsTer?) c.5027del (p.Asn1676IlefsTer?) c.4952del (p.Asn1651IlefsTer?) n.2807del c.5084del (p.Asn1695IlefsTer?) c.5030del (p.Asn1677IlefsTer?) c.4958del (p.Asn1653MetfsTer2) c.4955del (p.Asn1652IlefsTer?) c.5080del n.3243del c.5153del (p.Asn1718IlefsTer?) n.3974del n.2411del n.2382del n.2272del c.4814del (p.Asn1605IlefsTer?) c.*4326del (n.*4326del) c.4850del (p.Asn1617IlefsTer?) n.2882del c.1341del n.2274del c.5213del (p.Asn1738IlefsTer?) c.5210del (p.Asn1737IlefsTer?) c.5102del (p.Asn1701IlefsTer?) c.5081del (p.Asn1694IlefsTer?) c.4427del (p.Asn1476IlefsTer?) c.5375del (p.Asn1792IlefsTer?) c.5123del (p.Asn1708IlefsTer?) c.3869del (p.Asn1290IlefsTer?) | ClinVar dbSNP |
16 | g.2088137A= | CA2202030923 | TSC2 | c.*3507A= (n.*3507A=) c.5005A= (p.Asn1669=) c.5155A= (p.Asn1719=) c.*5671A= (n.*5671A=) c.*7907A= (n.*7907A=) c.5158A= (p.Asn1720=) c.5089A= (p.Asn1697=) c.4957A= (p.Asn1653=) c.4990A= (p.Asn1664=) c.1381A= n.3040A= c.3812A= c.5029A= (p.Asn1677=) n.755A= c.4960A= (p.Asn1654=) c.5026A= (p.Asn1676=) c.4951A= (p.Asn1651=) n.2806A= c.5083A= (p.Asn1695=) c.4954A= (p.Asn1652=) c.5079A= n.3242A= c.5152A= (p.Asn1718=) n.3973A= n.2410A= n.2381A= n.2271A= c.4813A= (p.Asn1605=) c.*4325A= (n.*4325A=) c.4849A= (p.Asn1617=) n.2881A= c.1340A= n.2273A= c.5212A= (p.Asn1738=) c.5209A= (p.Asn1737=) c.5101A= (p.Asn1701=) c.5080A= (p.Asn1694=) c.4426A= (p.Asn1476=) c.5374A= (p.Asn1792=) c.5122A= (p.Asn1708=) c.3868A= (p.Asn1290=) | |
16 | g.2088137A>C | CA394312678 | TSC2 | c.*3507A>C (n.*3507A>C) c.5005A>C (p.Asn1669His) c.5155A>C (p.Asn1719His) c.*5671A>C (n.*5671A>C) c.*7907A>C (n.*7907A>C) c.5158A>C (p.Asn1720His) c.5089A>C (p.Asn1697His) c.4957A>C (p.Asn1653His) c.4990A>C (p.Asn1664His) c.1381A>C n.3040A>C c.3812A>C c.5029A>C (p.Asn1677His) n.755A>C c.4960A>C (p.Asn1654His) c.5026A>C (p.Asn1676His) c.4951A>C (p.Asn1651His) n.2806A>C c.5083A>C (p.Asn1695His) c.4954A>C (p.Asn1652His) c.5079A>C n.3242A>C c.5152A>C (p.Asn1718His) n.3973A>C n.2410A>C n.2381A>C n.2271A>C c.4813A>C (p.Asn1605His) c.*4325A>C (n.*4325A>C) c.4849A>C (p.Asn1617His) n.2881A>C c.1340A>C n.2273A>C c.5212A>C (p.Asn1738His) c.5209A>C (p.Asn1737His) c.5101A>C (p.Asn1701His) c.5080A>C (p.Asn1694His) c.4426A>C (p.Asn1476His) c.5374A>C (p.Asn1792His) c.5122A>C (p.Asn1708His) c.3868A>C (p.Asn1290His) | ClinVar dbSNP |
16 | g.2088137A>G | CA394312679 | TSC2 | c.*3507A>G (n.*3507A>G) c.5005A>G (p.Asn1669Asp) c.5155A>G (p.Asn1719Asp) c.*5671A>G (n.*5671A>G) c.*7907A>G (n.*7907A>G) c.5158A>G (p.Asn1720Asp) c.5089A>G (p.Asn1697Asp) c.4957A>G (p.Asn1653Asp) c.4990A>G (p.Asn1664Asp) c.1381A>G n.3040A>G c.3812A>G c.5029A>G (p.Asn1677Asp) n.755A>G c.4960A>G (p.Asn1654Asp) c.5026A>G (p.Asn1676Asp) c.4951A>G (p.Asn1651Asp) n.2806A>G c.5083A>G (p.Asn1695Asp) c.4954A>G (p.Asn1652Asp) c.5079A>G n.3242A>G c.5152A>G (p.Asn1718Asp) n.3973A>G n.2410A>G n.2381A>G n.2271A>G c.4813A>G (p.Asn1605Asp) c.*4325A>G (n.*4325A>G) c.4849A>G (p.Asn1617Asp) n.2881A>G c.1340A>G n.2273A>G c.5212A>G (p.Asn1738Asp) c.5209A>G (p.Asn1737Asp) c.5101A>G (p.Asn1701Asp) c.5080A>G (p.Asn1694Asp) c.4426A>G (p.Asn1476Asp) c.5374A>G (p.Asn1792Asp) c.5122A>G (p.Asn1708Asp) c.3868A>G (p.Asn1290Asp) | ClinVar dbSNP |
16 | g.2088137A>T | CA394312681 | TSC2 | c.*3507A>T (n.*3507A>T) c.5005A>T (p.Asn1669Tyr) c.5155A>T (p.Asn1719Tyr) c.*5671A>T (n.*5671A>T) c.*7907A>T (n.*7907A>T) c.5158A>T (p.Asn1720Tyr) c.5089A>T (p.Asn1697Tyr) c.4957A>T (p.Asn1653Tyr) c.4990A>T (p.Asn1664Tyr) c.1381A>T n.3040A>T c.3812A>T c.5029A>T (p.Asn1677Tyr) n.755A>T c.4960A>T (p.Asn1654Tyr) c.5026A>T (p.Asn1676Tyr) c.4951A>T (p.Asn1651Tyr) n.2806A>T c.5083A>T (p.Asn1695Tyr) c.4954A>T (p.Asn1652Tyr) c.5079A>T n.3242A>T c.5152A>T (p.Asn1718Tyr) n.3973A>T n.2410A>T n.2381A>T n.2271A>T c.4813A>T (p.Asn1605Tyr) c.*4325A>T (n.*4325A>T) c.4849A>T (p.Asn1617Tyr) n.2881A>T c.1340A>T n.2273A>T c.5212A>T (p.Asn1738Tyr) c.5209A>T (p.Asn1737Tyr) c.5101A>T (p.Asn1701Tyr) c.5080A>T (p.Asn1694Tyr) c.4426A>T (p.Asn1476Tyr) c.5374A>T (p.Asn1792Tyr) c.5122A>T (p.Asn1708Tyr) c.3868A>T (p.Asn1290Tyr) | dbSNP |
16 | g.2088138A= | CA2202030936 | TSC2 | c.*3508A= (n.*3508A=) c.5006A= (p.Asn1669=) c.5156A= (p.Asn1719=) c.*5672A= (n.*5672A=) c.*7908A= (n.*7908A=) c.5159A= (p.Asn1720=) c.5090A= (p.Asn1697=) c.4958A= (p.Asn1653=) c.4991A= (p.Asn1664=) c.1382A= n.3041A= c.3813A= c.5030A= (p.Asn1677=) n.756A= c.4961A= (p.Asn1654=) c.5027A= (p.Asn1676=) c.4952A= (p.Asn1651=) n.2807A= c.5084A= (p.Asn1695=) c.4955A= (p.Asn1652=) c.5080A= n.3243A= c.5153A= (p.Asn1718=) n.3974A= n.2411A= n.2382A= n.2272A= c.4814A= (p.Asn1605=) c.*4326A= (n.*4326A=) c.4850A= (p.Asn1617=) n.2882A= c.1341A= n.2274A= c.5213A= (p.Asn1738=) c.5210A= (p.Asn1737=) c.5102A= (p.Asn1701=) c.5081A= (p.Asn1694=) c.4427A= (p.Asn1476=) c.5375A= (p.Asn1792=) c.5123A= (p.Asn1708=) c.3869A= (p.Asn1290=) | |
16 | g.2088138A>C | CA319544 | TSC2 | c.*3508A>C (n.*3508A>C) c.5006A>C (p.Asn1669Thr) c.5156A>C (p.Asn1719Thr) c.*5672A>C (n.*5672A>C) c.*7908A>C (n.*7908A>C) c.5159A>C (p.Asn1720Thr) c.5090A>C (p.Asn1697Thr) c.4958A>C (p.Asn1653Thr) c.4991A>C (p.Asn1664Thr) c.1382A>C n.3041A>C c.3813A>C c.5030A>C (p.Asn1677Thr) n.756A>C c.4961A>C (p.Asn1654Thr) c.5027A>C (p.Asn1676Thr) c.4952A>C (p.Asn1651Thr) n.2807A>C c.5084A>C (p.Asn1695Thr) c.4955A>C (p.Asn1652Thr) c.5080A>C n.3243A>C c.5153A>C (p.Asn1718Thr) n.3974A>C n.2411A>C n.2382A>C n.2272A>C c.4814A>C (p.Asn1605Thr) c.*4326A>C (n.*4326A>C) c.4850A>C (p.Asn1617Thr) n.2882A>C c.1341A>C n.2274A>C c.5213A>C (p.Asn1738Thr) c.5210A>C (p.Asn1737Thr) c.5102A>C (p.Asn1701Thr) c.5081A>C (p.Asn1694Thr) c.4427A>C (p.Asn1476Thr) c.5375A>C (p.Asn1792Thr) c.5123A>C (p.Asn1708Thr) c.3869A>C (p.Asn1290Thr) | ClinVar dbSNP |
16 | g.2088138A>G | CA394312686 | TSC2 | c.*3508A>G (n.*3508A>G) c.5006A>G (p.Asn1669Ser) c.5156A>G (p.Asn1719Ser) c.*5672A>G (n.*5672A>G) c.*7908A>G (n.*7908A>G) c.5159A>G (p.Asn1720Ser) c.5090A>G (p.Asn1697Ser) c.4958A>G (p.Asn1653Ser) c.4991A>G (p.Asn1664Ser) c.1382A>G n.3041A>G c.3813A>G c.5030A>G (p.Asn1677Ser) n.756A>G c.4961A>G (p.Asn1654Ser) c.5027A>G (p.Asn1676Ser) c.4952A>G (p.Asn1651Ser) n.2807A>G c.5084A>G (p.Asn1695Ser) c.4955A>G (p.Asn1652Ser) c.5080A>G n.3243A>G c.5153A>G (p.Asn1718Ser) n.3974A>G n.2411A>G n.2382A>G n.2272A>G c.4814A>G (p.Asn1605Ser) c.*4326A>G (n.*4326A>G) c.4850A>G (p.Asn1617Ser) n.2882A>G c.1341A>G n.2274A>G c.5213A>G (p.Asn1738Ser) c.5210A>G (p.Asn1737Ser) c.5102A>G (p.Asn1701Ser) c.5081A>G (p.Asn1694Ser) c.4427A>G (p.Asn1476Ser) c.5375A>G (p.Asn1792Ser) c.5123A>G (p.Asn1708Ser) c.3869A>G (p.Asn1290Ser) | COSMIC COSMIC |
16 | g.2088138A>T | CA394312690 | TSC2 | c.*3508A>T (n.*3508A>T) c.5006A>T (p.Asn1669Ile) c.5156A>T (p.Asn1719Ile) c.*5672A>T (n.*5672A>T) c.*7908A>T (n.*7908A>T) c.5159A>T (p.Asn1720Ile) c.5090A>T (p.Asn1697Ile) c.4958A>T (p.Asn1653Ile) c.4991A>T (p.Asn1664Ile) c.1382A>T n.3041A>T c.3813A>T c.5030A>T (p.Asn1677Ile) n.756A>T c.4961A>T (p.Asn1654Ile) c.5027A>T (p.Asn1676Ile) c.4952A>T (p.Asn1651Ile) n.2807A>T c.5084A>T (p.Asn1695Ile) c.4955A>T (p.Asn1652Ile) c.5080A>T n.3243A>T c.5153A>T (p.Asn1718Ile) n.3974A>T n.2411A>T n.2382A>T n.2272A>T c.4814A>T (p.Asn1605Ile) c.*4326A>T (n.*4326A>T) c.4850A>T (p.Asn1617Ile) n.2882A>T c.1341A>T n.2274A>T c.5213A>T (p.Asn1738Ile) c.5210A>T (p.Asn1737Ile) c.5102A>T (p.Asn1701Ile) c.5081A>T (p.Asn1694Ile) c.4427A>T (p.Asn1476Ile) c.5375A>T (p.Asn1792Ile) c.5123A>T (p.Asn1708Ile) c.3869A>T (p.Asn1290Ile) | |
16 | g.2088138_2088140delinsATG | CA2202030932 | TSC2 | c.*3508_*3509+1delinsATG c.5006_5007+1delinsATG c.5156_5157+1delinsATG c.*5672_*5673+1delinsATG c.*7908_*7909+1delinsATG c.5159_5160+1delinsATG c.5090_5091+1delinsATG c.4958_4959+1delinsATG c.4991_4992+1delinsATG c.1382_1383+1delinsATG n.3041_3042+1delinsATG c.3813_3814+1delinsATG c.5030_5031+1delinsATG n.756_757+1delinsATG c.4961_4962+1delinsATG c.5027_5028+1delinsATG c.4952_4953+1delinsATG n.2807_2808+1delinsATG c.5084_5085+1delinsATG c.4958_4960delinsATG (p.Asn1653=) c.4955_4956+1delinsATG c.5080_5081+1delinsATG n.3243_3244+1delinsATG c.5153_5154+1delinsATG n.3974_3975+1delinsATG n.2411_2412+1delinsATG n.2382_2383+1delinsATG n.2272_2273+1delinsATG c.4814_4815+1delinsATG c.*4326_*4327+1delinsATG c.4850_4851+1delinsATG n.2882_2883+1delinsATG c.1341_1342+1delinsATG n.2274_2275+1delinsATG c.5213_5214+1delinsATG c.5210_5211+1delinsATG c.5102_5103+1delinsATG c.5081_5082+1delinsATG c.4427_4428+1delinsATG c.5375_5376+1delinsATG c.5123_5124+1delinsATG c.3869_3870+1delinsATG | |
16 | g.2088139T>A | CA021987 | TSC2 | c.*3509T>A (n.*3509T>A) c.5007T>A (p.Asn1669Lys) c.5157T>A (p.Asn1719Lys) c.*5673T>A (n.*5673T>A) c.*7909T>A (n.*7909T>A) c.5160T>A (p.Asn1720Lys) c.5091T>A (p.Asn1697Lys) c.4959T>A (p.Asn1653Lys) c.4992T>A (p.Asn1664Lys) c.1383T>A n.3042T>A c.3814T>A c.5031T>A (p.Asn1677Lys) n.757T>A c.4962T>A (p.Asn1654Lys) c.5028T>A (p.Asn1676Lys) c.4953T>A (p.Asn1651Lys) n.2808T>A c.5085T>A (p.Asn1695Lys) c.4956T>A (p.Asn1652Lys) c.5081T>A n.3244T>A c.5154T>A (p.Asn1718Lys) n.3975T>A n.2412T>A n.2383T>A n.2273T>A c.4815T>A (p.Asn1605Lys) c.*4327T>A (n.*4327T>A) c.4851T>A (p.Asn1617Lys) n.2883T>A c.1342T>A n.2275T>A c.5214T>A (p.Asn1738Lys) c.5211T>A (p.Asn1737Lys) c.5103T>A (p.Asn1701Lys) c.5082T>A (p.Asn1694Lys) c.4428T>A (p.Asn1476Lys) c.5376T>A (p.Asn1792Lys) c.5124T>A (p.Asn1708Lys) c.3870T>A (p.Asn1290Lys) | ClinVar dbSNP |
16 | g.2088139T>C | CA16614797 | TSC2 | c.*3509T>C (n.*3509T>C) c.5007T>C (p.Asn1669=) c.5157T>C (p.Asn1719=) c.*5673T>C (n.*5673T>C) c.*7909T>C (n.*7909T>C) c.5160T>C (p.Asn1720=) c.5091T>C (p.Asn1697=) c.4959T>C (p.Asn1653=) c.4992T>C (p.Asn1664=) c.1383T>C n.3042T>C c.3814T>C c.5031T>C (p.Asn1677=) n.757T>C c.4962T>C (p.Asn1654=) c.5028T>C (p.Asn1676=) c.4953T>C (p.Asn1651=) n.2808T>C c.5085T>C (p.Asn1695=) c.4956T>C (p.Asn1652=) c.5081T>C n.3244T>C c.5154T>C (p.Asn1718=) n.3975T>C n.2412T>C n.2383T>C n.2273T>C c.4815T>C (p.Asn1605=) c.*4327T>C (n.*4327T>C) c.4851T>C (p.Asn1617=) n.2883T>C c.1342T>C n.2275T>C c.5214T>C (p.Asn1738=) c.5211T>C (p.Asn1737=) c.5103T>C (p.Asn1701=) c.5082T>C (p.Asn1694=) c.4428T>C (p.Asn1476=) c.5376T>C (p.Asn1792=) c.5124T>C (p.Asn1708=) c.3870T>C (p.Asn1290=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.2088139T>G | CA394312696 | TSC2 | c.*3509T>G (n.*3509T>G) c.5007T>G (p.Asn1669Lys) c.5157T>G (p.Asn1719Lys) c.*5673T>G (n.*5673T>G) c.*7909T>G (n.*7909T>G) c.5160T>G (p.Asn1720Lys) c.5091T>G (p.Asn1697Lys) c.4959T>G (p.Asn1653Lys) c.4992T>G (p.Asn1664Lys) c.1383T>G n.3042T>G c.3814T>G c.5031T>G (p.Asn1677Lys) n.757T>G c.4962T>G (p.Asn1654Lys) c.5028T>G (p.Asn1676Lys) c.4953T>G (p.Asn1651Lys) n.2808T>G c.5085T>G (p.Asn1695Lys) c.4956T>G (p.Asn1652Lys) c.5081T>G n.3244T>G c.5154T>G (p.Asn1718Lys) n.3975T>G n.2412T>G n.2383T>G n.2273T>G c.4815T>G (p.Asn1605Lys) c.*4327T>G (n.*4327T>G) c.4851T>G (p.Asn1617Lys) n.2883T>G c.1342T>G n.2275T>G c.5214T>G (p.Asn1738Lys) c.5211T>G (p.Asn1737Lys) c.5103T>G (p.Asn1701Lys) c.5082T>G (p.Asn1694Lys) c.4428T>G (p.Asn1476Lys) c.5376T>G (p.Asn1792Lys) c.5124T>G (p.Asn1708Lys) c.3870T>G (p.Asn1290Lys) | dbSNP |
16 | g.2088139T= | CA2202030958 | TSC2 | c.*3509T= (n.*3509T=) c.5007T= (p.Asn1669=) c.5157T= (p.Asn1719=) c.*5673T= (n.*5673T=) c.*7909T= (n.*7909T=) c.5160T= (p.Asn1720=) c.5091T= (p.Asn1697=) c.4959T= (p.Asn1653=) c.4992T= (p.Asn1664=) c.1383T= n.3042T= c.3814T= c.5031T= (p.Asn1677=) n.757T= c.4962T= (p.Asn1654=) c.5028T= (p.Asn1676=) c.4953T= (p.Asn1651=) n.2808T= c.5085T= (p.Asn1695=) c.4956T= (p.Asn1652=) c.5081T= n.3244T= c.5154T= (p.Asn1718=) n.3975T= n.2412T= n.2383T= n.2273T= c.4815T= (p.Asn1605=) c.*4327T= (n.*4327T=) c.4851T= (p.Asn1617=) n.2883T= c.1342T= n.2275T= c.5214T= (p.Asn1738=) c.5211T= (p.Asn1737=) c.5103T= (p.Asn1701=) c.5082T= (p.Asn1694=) c.4428T= (p.Asn1476=) c.5376T= (p.Asn1792=) c.5124T= (p.Asn1708=) c.3870T= (p.Asn1290=) | |
16 | g.2088141_2088142del | CA263054 | TSC2 | c.*3509+2_*3509+3del c.5007+2_5007+3del c.5157+2_5157+3del c.*5673+2_*5673+3del c.*7909+2_*7909+3del c.5160+2_5160+3del c.5091+2_5091+3del c.4959+2_4959+3del c.4992+2_4992+3del c.1383+2_1383+3del n.3042+2_3042+3del c.3814+2_3814+3del c.5031+2_5031+3del n.757+2_757+3del c.4962+2_4962+3del c.5028+2_5028+3del c.4953+2_4953+3del n.2808+2_2808+3del c.5085+2_5085+3del c.4961_4962del (p.Val1654GlufsTer8) c.4956+2_4956+3del c.5081+2_5081+3del n.3244+2_3244+3del c.5154+2_5154+3del n.3975+2_3975+3del n.2412+2_2412+3del n.2383+2_2383+3del n.2273+2_2273+3del c.4815+2_4815+3del c.*4327+2_*4327+3del c.4851+2_4851+3del n.2883+2_2883+3del c.1342+2_1342+3del n.2275+2_2275+3del c.5214+2_5214+3del c.5211+2_5211+3del c.5103+2_5103+3del c.5082+2_5082+3del c.4428+2_4428+3del c.5376+2_5376+3del c.5124+2_5124+3del c.3870+2_3870+3del | ClinVar dbSNP |
16 | g.2088139_2088161delinsTGTGAGTGGGGGTGGGTCCAGGC | CA2202030965 | TSC2 | c.*3509_*3509+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5007_5007+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5157_5157+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.*5673_*5673+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.*7909_*7909+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5160_5160+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5091_5091+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.4959_4959+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.4992_4992+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.1383_1383+22delinsTGTGAGTGGGGGTGGGTCCAGGC n.3042_3042+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.3814_3814+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5031_5031+22delinsTGTGAGTGGGGGTGGGTCCAGGC n.757_757+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.4962_4962+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5028_5028+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.4953_4953+22delinsTGTGAGTGGGGGTGGGTCCAGGC n.2808_2808+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5085_5085+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.4959_4981delinsTGTGAGTGGGGGTGGGTCCAGGC (p.Asn1653=) c.4956_4956+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5081_5081+22delinsTGTGAGTGGGGGTGGGTCCAGGC n.3244_3244+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5154_5154+22delinsTGTGAGTGGGGGTGGGTCCAGGC n.3975_3975+22delinsTGTGAGTGGGGGTGGGTCCAGGC n.2412_2412+22delinsTGTGAGTGGGGGTGGGTCCAGGC n.2383_2383+22delinsTGTGAGTGGGGGTGGGTCCAGGC n.2273_2273+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.4815_4815+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.*4327_*4327+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.4851_4851+22delinsTGTGAGTGGGGGTGGGTCCAGGC n.2883_2883+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.1342_1342+22delinsTGTGAGTGGGGGTGGGTCCAGGC n.2275_2275+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5214_5214+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5211_5211+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5103_5103+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5082_5082+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.4428_4428+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5376_5376+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.5124_5124+22delinsTGTGAGTGGGGGTGGGTCCAGGC c.3870_3870+22delinsTGTGAGTGGGGGTGGGTCCAGGC | |
16 | g.2088140G>A | CA021915 | TSC2 | c.*3509+1G>A (n.*3509+1G>A) c.5007+1G>A (n.5007+1G>A) c.5157+1G>A (n.5157+1G>A) c.*5673+1G>A (n.*5673+1G>A) c.*7909+1G>A (n.*7909+1G>A) c.5160+1G>A (n.5160+1G>A) c.5091+1G>A (n.5091+1G>A) c.4959+1G>A (n.4959+1G>A) c.4992+1G>A (n.4992+1G>A) c.1383+1G>A n.3042+1G>A c.3814+1G>A c.5031+1G>A (n.5031+1G>A) n.757+1G>A c.4962+1G>A (n.4962+1G>A) c.5028+1G>A (n.5028+1G>A) c.4953+1G>A (n.4953+1G>A) n.2808+1G>A c.5085+1G>A (n.5085+1G>A) c.4960G>A (p.Val1654Met) c.4956+1G>A (n.4956+1G>A) c.5081+1G>A n.3244+1G>A c.5154+1G>A (n.5154+1G>A) n.3975+1G>A n.2412+1G>A n.2383+1G>A n.2273+1G>A c.4815+1G>A (n.4815+1G>A) c.*4327+1G>A (n.*4327+1G>A) c.4851+1G>A (n.4851+1G>A) n.2883+1G>A c.1342+1G>A n.2275+1G>A c.5214+1G>A (n.5214+1G>A) c.5211+1G>A (n.5211+1G>A) c.5103+1G>A (n.5103+1G>A) c.5082+1G>A (n.5082+1G>A) c.4428+1G>A (n.4428+1G>A) c.5376+1G>A (n.5376+1G>A) c.5124+1G>A (n.5124+1G>A) c.3870+1G>A (n.3870+1G>A) | ClinVar dbSNP |
16 | g.2088140G>C | CA021921 | TSC2 | c.*3509+1G>C (n.*3509+1G>C) c.5007+1G>C (n.5007+1G>C) c.5157+1G>C (n.5157+1G>C) c.*5673+1G>C (n.*5673+1G>C) c.*7909+1G>C (n.*7909+1G>C) c.5160+1G>C (n.5160+1G>C) c.5091+1G>C (n.5091+1G>C) c.4959+1G>C (n.4959+1G>C) c.4992+1G>C (n.4992+1G>C) c.1383+1G>C n.3042+1G>C c.3814+1G>C c.5031+1G>C (n.5031+1G>C) n.757+1G>C c.4962+1G>C (n.4962+1G>C) c.5028+1G>C (n.5028+1G>C) c.4953+1G>C (n.4953+1G>C) n.2808+1G>C c.5085+1G>C (n.5085+1G>C) c.4960G>C (p.Val1654Leu) c.4956+1G>C (n.4956+1G>C) c.5081+1G>C n.3244+1G>C c.5154+1G>C (n.5154+1G>C) n.3975+1G>C n.2412+1G>C n.2383+1G>C n.2273+1G>C c.4815+1G>C (n.4815+1G>C) c.*4327+1G>C (n.*4327+1G>C) c.4851+1G>C (n.4851+1G>C) n.2883+1G>C c.1342+1G>C n.2275+1G>C c.5214+1G>C (n.5214+1G>C) c.5211+1G>C (n.5211+1G>C) c.5103+1G>C (n.5103+1G>C) c.5082+1G>C (n.5082+1G>C) c.4428+1G>C (n.4428+1G>C) c.5376+1G>C (n.5376+1G>C) c.5124+1G>C (n.5124+1G>C) c.3870+1G>C (n.3870+1G>C) | ClinVar dbSNP |
16 | g.2088140G= | CA2202030983 | TSC2 | c.*3509+1G= (n.*3509+1G=) c.5007+1G= (n.5007+1G=) c.5157+1G= (n.5157+1G=) c.*5673+1G= (n.*5673+1G=) c.*7909+1G= (n.*7909+1G=) c.5160+1G= (n.5160+1G=) c.5091+1G= (n.5091+1G=) c.4959+1G= (n.4959+1G=) c.4992+1G= (n.4992+1G=) c.1383+1G= n.3042+1G= c.3814+1G= c.5031+1G= (n.5031+1G=) n.757+1G= c.4962+1G= (n.4962+1G=) c.5028+1G= (n.5028+1G=) c.4953+1G= (n.4953+1G=) n.2808+1G= c.5085+1G= (n.5085+1G=) c.4960G= (p.Val1654=) c.4956+1G= (n.4956+1G=) c.5081+1G= n.3244+1G= c.5154+1G= (n.5154+1G=) n.3975+1G= n.2412+1G= n.2383+1G= n.2273+1G= c.4815+1G= (n.4815+1G=) c.*4327+1G= (n.*4327+1G=) c.4851+1G= (n.4851+1G=) n.2883+1G= c.1342+1G= n.2275+1G= c.5214+1G= (n.5214+1G=) c.5211+1G= (n.5211+1G=) c.5103+1G= (n.5103+1G=) c.5082+1G= (n.5082+1G=) c.4428+1G= (n.4428+1G=) c.5376+1G= (n.5376+1G=) c.5124+1G= (n.5124+1G=) c.3870+1G= (n.3870+1G=) | |
16 | g.2088140G>T | CA021925 | TSC2 | c.*3509+1G>T (n.*3509+1G>T) c.5007+1G>T (n.5007+1G>T) c.5157+1G>T (n.5157+1G>T) c.*5673+1G>T (n.*5673+1G>T) c.*7909+1G>T (n.*7909+1G>T) c.5160+1G>T (n.5160+1G>T) c.5091+1G>T (n.5091+1G>T) c.4959+1G>T (n.4959+1G>T) c.4992+1G>T (n.4992+1G>T) c.1383+1G>T n.3042+1G>T c.3814+1G>T c.5031+1G>T (n.5031+1G>T) n.757+1G>T c.4962+1G>T (n.4962+1G>T) c.5028+1G>T (n.5028+1G>T) c.4953+1G>T (n.4953+1G>T) n.2808+1G>T c.5085+1G>T (n.5085+1G>T) c.4960G>T (p.Val1654Leu) c.4956+1G>T (n.4956+1G>T) c.5081+1G>T n.3244+1G>T c.5154+1G>T (n.5154+1G>T) n.3975+1G>T n.2412+1G>T n.2383+1G>T n.2273+1G>T c.4815+1G>T (n.4815+1G>T) c.*4327+1G>T (n.*4327+1G>T) c.4851+1G>T (n.4851+1G>T) n.2883+1G>T c.1342+1G>T n.2275+1G>T c.5214+1G>T (n.5214+1G>T) c.5211+1G>T (n.5211+1G>T) c.5103+1G>T (n.5103+1G>T) c.5082+1G>T (n.5082+1G>T) c.4428+1G>T (n.4428+1G>T) c.5376+1G>T (n.5376+1G>T) c.5124+1G>T (n.5124+1G>T) c.3870+1G>T (n.3870+1G>T) | ClinVar dbSNP |
16 | g.2088143_2088146dup | CA919640200 | TSC2 | c.*3509+4_*3509+7dup (n.*3509+4_*3509+7dup) c.5007+4_5007+7dup (n.5007+4_5007+7dup) c.5157+4_5157+7dup (n.5157+4_5157+7dup) c.*5673+4_*5673+7dup (n.*5673+4_*5673+7dup) c.*7909+4_*7909+7dup (n.*7909+4_*7909+7dup) c.5160+4_5160+7dup (n.5160+4_5160+7dup) c.5091+4_5091+7dup (n.5091+4_5091+7dup) c.4959+4_4959+7dup (n.4959+4_4959+7dup) c.4992+4_4992+7dup (n.4992+4_4992+7dup) c.1383+4_1383+7dup n.3042+4_3042+7dup c.3814+4_3814+7dup c.5031+4_5031+7dup (n.5031+4_5031+7dup) n.757+4_757+7dup c.4962+4_4962+7dup (n.4962+4_4962+7dup) c.5028+4_5028+7dup (n.5028+4_5028+7dup) c.4953+4_4953+7dup (n.4953+4_4953+7dup) n.2808+4_2808+7dup c.5085+4_5085+7dup (n.5085+4_5085+7dup) c.4963_4966dup (p.Gly1656GlufsTer8) c.4956+4_4956+7dup (n.4956+4_4956+7dup) c.5081+4_5081+7dup n.3244+4_3244+7dup c.5154+4_5154+7dup (n.5154+4_5154+7dup) n.3975+4_3975+7dup n.2412+4_2412+7dup n.2383+4_2383+7dup n.2273+4_2273+7dup c.4815+4_4815+7dup (n.4815+4_4815+7dup) c.*4327+4_*4327+7dup (n.*4327+4_*4327+7dup) c.4851+4_4851+7dup (n.4851+4_4851+7dup) n.2883+4_2883+7dup c.1342+4_1342+7dup n.2275+4_2275+7dup c.5214+4_5214+7dup (n.5214+4_5214+7dup) c.5211+4_5211+7dup (n.5211+4_5211+7dup) c.5103+4_5103+7dup (n.5103+4_5103+7dup) c.5082+4_5082+7dup (n.5082+4_5082+7dup) c.4428+4_4428+7dup (n.4428+4_4428+7dup) c.5376+4_5376+7dup (n.5376+4_5376+7dup) c.5124+4_5124+7dup (n.5124+4_5124+7dup) c.3870+4_3870+7dup (n.3870+4_3870+7dup) | ClinVar dbSNP gnomAD v4 |
16 | g.2088145_2088166del | CA645373026 | TSC2 | c.*3509+6_*3509+27del (n.*3509+6_*3509+27del) c.5007+6_5007+27del (n.5007+6_5007+27del) c.5157+6_5157+27del (n.5157+6_5157+27del) c.*5673+6_*5673+27del (n.*5673+6_*5673+27del) c.*7909+6_*7909+27del (n.*7909+6_*7909+27del) c.5160+6_5160+27del (n.5160+6_5160+27del) c.5091+6_5091+27del (n.5091+6_5091+27del) c.4959+6_4959+27del (n.4959+6_4959+27del) c.4992+6_4992+27del (n.4992+6_4992+27del) c.1383+6_1383+27del n.3042+6_3042+27del c.3814+6_3814+27del c.5031+6_5031+27del (n.5031+6_5031+27del) n.757+6_757+27del c.4962+6_4962+27del (n.4962+6_4962+27del) c.5028+6_5028+27del (n.5028+6_5028+27del) c.4953+6_4953+27del (n.4953+6_4953+27del) n.2808+6_2808+27del c.5085+6_5085+27del (n.5085+6_5085+27del) c.4965_4986del (p.Gly1656TrpfsTer?) c.4956+6_4956+27del (n.4956+6_4956+27del) c.5081+6_5081+27del n.3244+6_3244+27del c.5154+6_5154+27del (n.5154+6_5154+27del) n.3975+6_3975+27del n.2412+6_2412+27del n.2383+6_2383+27del n.2273+6_2273+27del c.4815+6_4815+27del (n.4815+6_4815+27del) c.*4327+6_*4327+27del (n.*4327+6_*4327+27del) c.4851+6_4851+27del (n.4851+6_4851+27del) n.2883+6_2883+27del c.1342+6_1342+27del n.2275+6_2275+27del c.5214+6_5214+27del (n.5214+6_5214+27del) c.5211+6_5211+27del (n.5211+6_5211+27del) c.5103+6_5103+27del (n.5103+6_5103+27del) c.5082+6_5082+27del (n.5082+6_5082+27del) c.4428+6_4428+27del (n.4428+6_4428+27del) c.5376+6_5376+27del (n.5376+6_5376+27del) c.5124+6_5124+27del (n.5124+6_5124+27del) c.3870+6_3870+27del (n.3870+6_3870+27del) | ClinVar dbSNP |
16 | g.2088140_2088226del | CA2805573856 | TSC2 | c.*3509+1_*3510-1del (n.*3509+1_*3510-1del) c.5007+1_5008-1del (n.5007+1_5008-1del) c.5157+1_5158-1del (n.5157+1_5158-1del) c.*5673+1_*5674-1del (n.*5673+1_*5674-1del) c.*7909+1_*7910-1del (n.*7909+1_*7910-1del) c.5160+1_5161-1del (n.5160+1_5161-1del) c.5091+1_5092-1del (n.5091+1_5092-1del) c.4959+1_4960-1del (n.4959+1_4960-1del) c.4992+1_4993-1del (n.4992+1_4993-1del) c.1383+1_1384-1del n.3042+1_3043-1del c.3814+1_3815-1del c.5031+1_5032-13del (n.5031+1_5032-13del) n.757+1_758-1del c.4962+1_4963-1del (n.4962+1_4963-1del) c.5028+1_5029-1del (n.5028+1_5029-1del) c.4953+1_4954-1del (n.4953+1_4954-1del) n.2808+1_2809-1del c.5085+1_5086-1del (n.5085+1_5086-1del) c.5031+1_5032-1del (n.5031+1_5032-1del) c.4960_5046del (p.Val1654_Gln1682del) c.4956+1_4957-1del (n.4956+1_4957-1del) c.5081+1_5082-1del n.3244+1_3245-1del c.5154+1_5155-1del (n.5154+1_5155-1del) n.3975+1_3976-1del n.2412+1_2413-1del n.2383+1_2384-1del n.2273+1_2274-1del c.4815+1_4816-1del (n.4815+1_4816-1del) c.*4327+1_*4328-1del (n.*4327+1_*4328-1del) c.4851+1_4852-1del (n.4851+1_4852-1del) n.2883+1_2884-1del c.1342+1_1343-1del n.2275+1_2276-1del c.5214+1_5215-1del (n.5214+1_5215-1del) c.5211+1_5212-1del (n.5211+1_5212-1del) c.5103+1_5104-1del (n.5103+1_5104-1del) c.5082+1_5083-1del (n.5082+1_5083-1del) c.4428+1_4429-1del (n.4428+1_4429-1del) c.5376+1_5377-1del (n.5376+1_5377-1del) c.5124+1_5125-1del (n.5124+1_5125-1del) c.3870+1_3871-1del (n.3870+1_3871-1del) | |
16 | g.2088141T>A | CA394312704 | TSC2 | c.*3509+2T>A (n.*3509+2T>A) c.5007+2T>A (n.5007+2T>A) c.5157+2T>A (n.5157+2T>A) c.*5673+2T>A (n.*5673+2T>A) c.*7909+2T>A (n.*7909+2T>A) c.5160+2T>A (n.5160+2T>A) c.5091+2T>A (n.5091+2T>A) c.4959+2T>A (n.4959+2T>A) c.4992+2T>A (n.4992+2T>A) c.1383+2T>A n.3042+2T>A c.3814+2T>A c.5031+2T>A (n.5031+2T>A) n.757+2T>A c.4962+2T>A (n.4962+2T>A) c.5028+2T>A (n.5028+2T>A) c.4953+2T>A (n.4953+2T>A) n.2808+2T>A c.5085+2T>A (n.5085+2T>A) c.4961T>A (p.Val1654Glu) c.4956+2T>A (n.4956+2T>A) c.5081+2T>A n.3244+2T>A c.5154+2T>A (n.5154+2T>A) n.3975+2T>A n.2412+2T>A n.2383+2T>A n.2273+2T>A c.4815+2T>A (n.4815+2T>A) c.*4327+2T>A (n.*4327+2T>A) c.4851+2T>A (n.4851+2T>A) n.2883+2T>A c.1342+2T>A n.2275+2T>A c.5214+2T>A (n.5214+2T>A) c.5211+2T>A (n.5211+2T>A) c.5103+2T>A (n.5103+2T>A) c.5082+2T>A (n.5082+2T>A) c.4428+2T>A (n.4428+2T>A) c.5376+2T>A (n.5376+2T>A) c.5124+2T>A (n.5124+2T>A) c.3870+2T>A (n.3870+2T>A) | dbSNP |
16 | g.2088141T>C | CA021940 | TSC2 | c.*3509+2T>C (n.*3509+2T>C) c.5007+2T>C (n.5007+2T>C) c.5157+2T>C (n.5157+2T>C) c.*5673+2T>C (n.*5673+2T>C) c.*7909+2T>C (n.*7909+2T>C) c.5160+2T>C (n.5160+2T>C) c.5091+2T>C (n.5091+2T>C) c.4959+2T>C (n.4959+2T>C) c.4992+2T>C (n.4992+2T>C) c.1383+2T>C n.3042+2T>C c.3814+2T>C c.5031+2T>C (n.5031+2T>C) n.757+2T>C c.4962+2T>C (n.4962+2T>C) c.5028+2T>C (n.5028+2T>C) c.4953+2T>C (n.4953+2T>C) n.2808+2T>C c.5085+2T>C (n.5085+2T>C) c.4961T>C (p.Val1654Ala) c.4956+2T>C (n.4956+2T>C) c.5081+2T>C n.3244+2T>C c.5154+2T>C (n.5154+2T>C) n.3975+2T>C n.2412+2T>C n.2383+2T>C n.2273+2T>C c.4815+2T>C (n.4815+2T>C) c.*4327+2T>C (n.*4327+2T>C) c.4851+2T>C (n.4851+2T>C) n.2883+2T>C c.1342+2T>C n.2275+2T>C c.5214+2T>C (n.5214+2T>C) c.5211+2T>C (n.5211+2T>C) c.5103+2T>C (n.5103+2T>C) c.5082+2T>C (n.5082+2T>C) c.4428+2T>C (n.4428+2T>C) c.5376+2T>C (n.5376+2T>C) c.5124+2T>C (n.5124+2T>C) c.3870+2T>C (n.3870+2T>C) | ClinVar dbSNP |
16 | g.2088141T>G | CA394312707 | TSC2 | c.*3509+2T>G (n.*3509+2T>G) c.5007+2T>G (n.5007+2T>G) c.5157+2T>G (n.5157+2T>G) c.*5673+2T>G (n.*5673+2T>G) c.*7909+2T>G (n.*7909+2T>G) c.5160+2T>G (n.5160+2T>G) c.5091+2T>G (n.5091+2T>G) c.4959+2T>G (n.4959+2T>G) c.4992+2T>G (n.4992+2T>G) c.1383+2T>G n.3042+2T>G c.3814+2T>G c.5031+2T>G (n.5031+2T>G) n.757+2T>G c.4962+2T>G (n.4962+2T>G) c.5028+2T>G (n.5028+2T>G) c.4953+2T>G (n.4953+2T>G) n.2808+2T>G c.5085+2T>G (n.5085+2T>G) c.4961T>G (p.Val1654Gly) c.4956+2T>G (n.4956+2T>G) c.5081+2T>G n.3244+2T>G c.5154+2T>G (n.5154+2T>G) n.3975+2T>G n.2412+2T>G n.2383+2T>G n.2273+2T>G c.4815+2T>G (n.4815+2T>G) c.*4327+2T>G (n.*4327+2T>G) c.4851+2T>G (n.4851+2T>G) n.2883+2T>G c.1342+2T>G n.2275+2T>G c.5214+2T>G (n.5214+2T>G) c.5211+2T>G (n.5211+2T>G) c.5103+2T>G (n.5103+2T>G) c.5082+2T>G (n.5082+2T>G) c.4428+2T>G (n.4428+2T>G) c.5376+2T>G (n.5376+2T>G) c.5124+2T>G (n.5124+2T>G) c.3870+2T>G (n.3870+2T>G) | dbSNP |
16 | g.2088141T= | CA2202030993 | TSC2 | c.*3509+2T= (n.*3509+2T=) c.5007+2T= (n.5007+2T=) c.5157+2T= (n.5157+2T=) c.*5673+2T= (n.*5673+2T=) c.*7909+2T= (n.*7909+2T=) c.5160+2T= (n.5160+2T=) c.5091+2T= (n.5091+2T=) c.4959+2T= (n.4959+2T=) c.4992+2T= (n.4992+2T=) c.1383+2T= n.3042+2T= c.3814+2T= c.5031+2T= (n.5031+2T=) n.757+2T= c.4962+2T= (n.4962+2T=) c.5028+2T= (n.5028+2T=) c.4953+2T= (n.4953+2T=) n.2808+2T= c.5085+2T= (n.5085+2T=) c.4961T= (p.Val1654=) c.4956+2T= (n.4956+2T=) c.5081+2T= n.3244+2T= c.5154+2T= (n.5154+2T=) n.3975+2T= n.2412+2T= n.2383+2T= n.2273+2T= c.4815+2T= (n.4815+2T=) c.*4327+2T= (n.*4327+2T=) c.4851+2T= (n.4851+2T=) n.2883+2T= c.1342+2T= n.2275+2T= c.5214+2T= (n.5214+2T=) c.5211+2T= (n.5211+2T=) c.5103+2T= (n.5103+2T=) c.5082+2T= (n.5082+2T=) c.4428+2T= (n.4428+2T=) c.5376+2T= (n.5376+2T=) c.5124+2T= (n.5124+2T=) c.3870+2T= (n.3870+2T=) | |
16 | g.2088141dup | CA021935 | TSC2 | c.*3509+2dup (n.*3509+2dup) c.5007+2dup (n.5007+2dup) c.5157+2dup (n.5157+2dup) c.*5673+2dup (n.*5673+2dup) c.*7909+2dup (n.*7909+2dup) c.5160+2dup (n.5160+2dup) c.5091+2dup (n.5091+2dup) c.4959+2dup (n.4959+2dup) c.4992+2dup (n.4992+2dup) c.1383+2dup n.3042+2dup c.3814+2dup c.5031+2dup (n.5031+2dup) n.757+2dup c.4962+2dup (n.4962+2dup) c.5028+2dup (n.5028+2dup) c.4953+2dup (n.4953+2dup) n.2808+2dup c.5085+2dup (n.5085+2dup) c.4961dup (p.Ser1655GlufsTer8) c.4956+2dup (n.4956+2dup) c.5081+2dup n.3244+2dup c.5154+2dup (n.5154+2dup) n.3975+2dup n.2412+2dup n.2383+2dup n.2273+2dup c.4815+2dup (n.4815+2dup) c.*4327+2dup (n.*4327+2dup) c.4851+2dup (n.4851+2dup) n.2883+2dup c.1342+2dup n.2275+2dup c.5214+2dup (n.5214+2dup) c.5211+2dup (n.5211+2dup) c.5103+2dup (n.5103+2dup) c.5082+2dup (n.5082+2dup) c.4428+2dup (n.4428+2dup) c.5376+2dup (n.5376+2dup) c.5124+2dup (n.5124+2dup) c.3870+2dup (n.3870+2dup) | ClinVar dbSNP |
16 | g.2088142G>A | CA891844202 | TSC2 | c.*3509+3G>A (n.*3509+3G>A) c.5007+3G>A (n.5007+3G>A) c.5157+3G>A (n.5157+3G>A) c.*5673+3G>A (n.*5673+3G>A) c.*7909+3G>A (n.*7909+3G>A) c.5160+3G>A (n.5160+3G>A) c.5091+3G>A (n.5091+3G>A) c.4959+3G>A (n.4959+3G>A) c.4992+3G>A (n.4992+3G>A) c.1383+3G>A n.3042+3G>A c.3814+3G>A c.5031+3G>A (n.5031+3G>A) n.757+3G>A c.4962+3G>A (n.4962+3G>A) c.5028+3G>A (n.5028+3G>A) c.4953+3G>A (n.4953+3G>A) n.2808+3G>A c.5085+3G>A (n.5085+3G>A) c.4962G>A (p.Val1654=) c.4956+3G>A (n.4956+3G>A) c.5081+3G>A n.3244+3G>A c.5154+3G>A (n.5154+3G>A) n.3975+3G>A n.2412+3G>A n.2383+3G>A n.2273+3G>A c.4815+3G>A (n.4815+3G>A) c.*4327+3G>A (n.*4327+3G>A) c.4851+3G>A (n.4851+3G>A) n.2883+3G>A c.1342+3G>A n.2275+3G>A c.5214+3G>A (n.5214+3G>A) c.5211+3G>A (n.5211+3G>A) c.5103+3G>A (n.5103+3G>A) c.5082+3G>A (n.5082+3G>A) c.4428+3G>A (n.4428+3G>A) c.5376+3G>A (n.5376+3G>A) c.5124+3G>A (n.5124+3G>A) c.3870+3G>A (n.3870+3G>A) | ClinVar dbSNP gnomAD v4 |
16 | g.2088142G>C | CA021949 | TSC2 | c.*3509+3G>C (n.*3509+3G>C) c.5007+3G>C (n.5007+3G>C) c.5157+3G>C (n.5157+3G>C) c.*5673+3G>C (n.*5673+3G>C) c.*7909+3G>C (n.*7909+3G>C) c.5160+3G>C (n.5160+3G>C) c.5091+3G>C (n.5091+3G>C) c.4959+3G>C (n.4959+3G>C) c.4992+3G>C (n.4992+3G>C) c.1383+3G>C n.3042+3G>C c.3814+3G>C c.5031+3G>C (n.5031+3G>C) n.757+3G>C c.4962+3G>C (n.4962+3G>C) c.5028+3G>C (n.5028+3G>C) c.4953+3G>C (n.4953+3G>C) n.2808+3G>C c.5085+3G>C (n.5085+3G>C) c.4962G>C (p.Val1654=) c.4956+3G>C (n.4956+3G>C) c.5081+3G>C n.3244+3G>C c.5154+3G>C (n.5154+3G>C) n.3975+3G>C n.2412+3G>C n.2383+3G>C n.2273+3G>C c.4815+3G>C (n.4815+3G>C) c.*4327+3G>C (n.*4327+3G>C) c.4851+3G>C (n.4851+3G>C) n.2883+3G>C c.1342+3G>C n.2275+3G>C c.5214+3G>C (n.5214+3G>C) c.5211+3G>C (n.5211+3G>C) c.5103+3G>C (n.5103+3G>C) c.5082+3G>C (n.5082+3G>C) c.4428+3G>C (n.4428+3G>C) c.5376+3G>C (n.5376+3G>C) c.5124+3G>C (n.5124+3G>C) c.3870+3G>C (n.3870+3G>C) | ClinVar dbSNP |
16 | g.2088142G= | CA2202031005 | TSC2 | c.*3509+3G= (n.*3509+3G=) c.5007+3G= (n.5007+3G=) c.5157+3G= (n.5157+3G=) c.*5673+3G= (n.*5673+3G=) c.*7909+3G= (n.*7909+3G=) c.5160+3G= (n.5160+3G=) c.5091+3G= (n.5091+3G=) c.4959+3G= (n.4959+3G=) c.4992+3G= (n.4992+3G=) c.1383+3G= n.3042+3G= c.3814+3G= c.5031+3G= (n.5031+3G=) n.757+3G= c.4962+3G= (n.4962+3G=) c.5028+3G= (n.5028+3G=) c.4953+3G= (n.4953+3G=) n.2808+3G= c.5085+3G= (n.5085+3G=) c.4962G= (p.Val1654=) c.4956+3G= (n.4956+3G=) c.5081+3G= n.3244+3G= c.5154+3G= (n.5154+3G=) n.3975+3G= n.2412+3G= n.2383+3G= n.2273+3G= c.4815+3G= (n.4815+3G=) c.*4327+3G= (n.*4327+3G=) c.4851+3G= (n.4851+3G=) n.2883+3G= c.1342+3G= n.2275+3G= c.5214+3G= (n.5214+3G=) c.5211+3G= (n.5211+3G=) c.5103+3G= (n.5103+3G=) c.5082+3G= (n.5082+3G=) c.4428+3G= (n.4428+3G=) c.5376+3G= (n.5376+3G=) c.5124+3G= (n.5124+3G=) c.3870+3G= (n.3870+3G=) | |
16 | g.2088142G>T | CA2573151973 | TSC2 | c.*3509+3G>T (n.*3509+3G>T) c.5007+3G>T (n.5007+3G>T) c.5157+3G>T (n.5157+3G>T) c.*5673+3G>T (n.*5673+3G>T) c.*7909+3G>T (n.*7909+3G>T) c.5160+3G>T (n.5160+3G>T) c.5091+3G>T (n.5091+3G>T) c.4959+3G>T (n.4959+3G>T) c.4992+3G>T (n.4992+3G>T) c.1383+3G>T n.3042+3G>T c.3814+3G>T c.5031+3G>T (n.5031+3G>T) n.757+3G>T c.4962+3G>T (n.4962+3G>T) c.5028+3G>T (n.5028+3G>T) c.4953+3G>T (n.4953+3G>T) n.2808+3G>T c.5085+3G>T (n.5085+3G>T) c.4962G>T (p.Val1654=) c.4956+3G>T (n.4956+3G>T) c.5081+3G>T n.3244+3G>T c.5154+3G>T (n.5154+3G>T) n.3975+3G>T n.2412+3G>T n.2383+3G>T n.2273+3G>T c.4815+3G>T (n.4815+3G>T) c.*4327+3G>T (n.*4327+3G>T) c.4851+3G>T (n.4851+3G>T) n.2883+3G>T c.1342+3G>T n.2275+3G>T c.5214+3G>T (n.5214+3G>T) c.5211+3G>T (n.5211+3G>T) c.5103+3G>T (n.5103+3G>T) c.5082+3G>T (n.5082+3G>T) c.4428+3G>T (n.4428+3G>T) c.5376+3G>T (n.5376+3G>T) c.5124+3G>T (n.5124+3G>T) c.3870+3G>T (n.3870+3G>T) | ClinVar dbSNP |
16 | g.2088143A= | CA2202031012 | TSC2 | c.*3509+4A= (n.*3509+4A=) c.5007+4A= (n.5007+4A=) c.5157+4A= (n.5157+4A=) c.*5673+4A= (n.*5673+4A=) c.*7909+4A= (n.*7909+4A=) c.5160+4A= (n.5160+4A=) c.5091+4A= (n.5091+4A=) c.4959+4A= (n.4959+4A=) c.4992+4A= (n.4992+4A=) c.1383+4A= n.3042+4A= c.3814+4A= c.5031+4A= (n.5031+4A=) n.757+4A= c.4962+4A= (n.4962+4A=) c.5028+4A= (n.5028+4A=) c.4953+4A= (n.4953+4A=) n.2808+4A= c.5085+4A= (n.5085+4A=) c.4963A= (p.Ser1655=) c.4956+4A= (n.4956+4A=) c.5081+4A= n.3244+4A= c.5154+4A= (n.5154+4A=) n.3975+4A= n.2412+4A= n.2383+4A= n.2273+4A= c.4815+4A= (n.4815+4A=) c.*4327+4A= (n.*4327+4A=) c.4851+4A= (n.4851+4A=) n.2883+4A= c.1342+4A= n.2275+4A= c.5214+4A= (n.5214+4A=) c.5211+4A= (n.5211+4A=) c.5103+4A= (n.5103+4A=) c.5082+4A= (n.5082+4A=) c.4428+4A= (n.4428+4A=) c.5376+4A= (n.5376+4A=) c.5124+4A= (n.5124+4A=) c.3870+4A= (n.3870+4A=) | |
16 | g.2088143A>C | CA16043502 | TSC2 | c.*3509+4A>C (n.*3509+4A>C) c.5007+4A>C (n.5007+4A>C) c.5157+4A>C (n.5157+4A>C) c.*5673+4A>C (n.*5673+4A>C) c.*7909+4A>C (n.*7909+4A>C) c.5160+4A>C (n.5160+4A>C) c.5091+4A>C (n.5091+4A>C) c.4959+4A>C (n.4959+4A>C) c.4992+4A>C (n.4992+4A>C) c.1383+4A>C n.3042+4A>C c.3814+4A>C c.5031+4A>C (n.5031+4A>C) n.757+4A>C c.4962+4A>C (n.4962+4A>C) c.5028+4A>C (n.5028+4A>C) c.4953+4A>C (n.4953+4A>C) n.2808+4A>C c.5085+4A>C (n.5085+4A>C) c.4963A>C (p.Ser1655Arg) c.4956+4A>C (n.4956+4A>C) c.5081+4A>C n.3244+4A>C c.5154+4A>C (n.5154+4A>C) n.3975+4A>C n.2412+4A>C n.2383+4A>C n.2273+4A>C c.4815+4A>C (n.4815+4A>C) c.*4327+4A>C (n.*4327+4A>C) c.4851+4A>C (n.4851+4A>C) n.2883+4A>C c.1342+4A>C n.2275+4A>C c.5214+4A>C (n.5214+4A>C) c.5211+4A>C (n.5211+4A>C) c.5103+4A>C (n.5103+4A>C) c.5082+4A>C (n.5082+4A>C) c.4428+4A>C (n.4428+4A>C) c.5376+4A>C (n.5376+4A>C) c.5124+4A>C (n.5124+4A>C) c.3870+4A>C (n.3870+4A>C) | ClinVar dbSNP |
16 | g.2088143A>G | CA021959 | TSC2 | c.*3509+4A>G (n.*3509+4A>G) c.5007+4A>G (n.5007+4A>G) c.5157+4A>G (n.5157+4A>G) c.*5673+4A>G (n.*5673+4A>G) c.*7909+4A>G (n.*7909+4A>G) c.5160+4A>G (n.5160+4A>G) c.5091+4A>G (n.5091+4A>G) c.4959+4A>G (n.4959+4A>G) c.4992+4A>G (n.4992+4A>G) c.1383+4A>G n.3042+4A>G c.3814+4A>G c.5031+4A>G (n.5031+4A>G) n.757+4A>G c.4962+4A>G (n.4962+4A>G) c.5028+4A>G (n.5028+4A>G) c.4953+4A>G (n.4953+4A>G) n.2808+4A>G c.5085+4A>G (n.5085+4A>G) c.4963A>G (p.Ser1655Gly) c.4956+4A>G (n.4956+4A>G) c.5081+4A>G n.3244+4A>G c.5154+4A>G (n.5154+4A>G) n.3975+4A>G n.2412+4A>G n.2383+4A>G n.2273+4A>G c.4815+4A>G (n.4815+4A>G) c.*4327+4A>G (n.*4327+4A>G) c.4851+4A>G (n.4851+4A>G) n.2883+4A>G c.1342+4A>G n.2275+4A>G c.5214+4A>G (n.5214+4A>G) c.5211+4A>G (n.5211+4A>G) c.5103+4A>G (n.5103+4A>G) c.5082+4A>G (n.5082+4A>G) c.4428+4A>G (n.4428+4A>G) c.5376+4A>G (n.5376+4A>G) c.5124+4A>G (n.5124+4A>G) c.3870+4A>G (n.3870+4A>G) | ClinVar dbSNP |
16 | g.2088143A>T | CA2695221748 | TSC2 | c.*3509+4A>T (n.*3509+4A>T) c.5007+4A>T (n.5007+4A>T) c.5157+4A>T (n.5157+4A>T) c.*5673+4A>T (n.*5673+4A>T) c.*7909+4A>T (n.*7909+4A>T) c.5160+4A>T (n.5160+4A>T) c.5091+4A>T (n.5091+4A>T) c.4959+4A>T (n.4959+4A>T) c.4992+4A>T (n.4992+4A>T) c.1383+4A>T n.3042+4A>T c.3814+4A>T c.5031+4A>T (n.5031+4A>T) n.757+4A>T c.4962+4A>T (n.4962+4A>T) c.5028+4A>T (n.5028+4A>T) c.4953+4A>T (n.4953+4A>T) n.2808+4A>T c.5085+4A>T (n.5085+4A>T) c.4963A>T (p.Ser1655Cys) c.4956+4A>T (n.4956+4A>T) c.5081+4A>T n.3244+4A>T c.5154+4A>T (n.5154+4A>T) n.3975+4A>T n.2412+4A>T n.2383+4A>T n.2273+4A>T c.4815+4A>T (n.4815+4A>T) c.*4327+4A>T (n.*4327+4A>T) c.4851+4A>T (n.4851+4A>T) n.2883+4A>T c.1342+4A>T n.2275+4A>T c.5214+4A>T (n.5214+4A>T) c.5211+4A>T (n.5211+4A>T) c.5103+4A>T (n.5103+4A>T) c.5082+4A>T (n.5082+4A>T) c.4428+4A>T (n.4428+4A>T) c.5376+4A>T (n.5376+4A>T) c.5124+4A>T (n.5124+4A>T) c.3870+4A>T (n.3870+4A>T) | dbSNP |
16 | g.2088143_2088144delinsAG | CA2202031019 | TSC2 | c.*3509+4_*3509+5delinsAG (n.*3509+4_*3509+5delinsAG) c.5007+4_5007+5delinsAG (n.5007+4_5007+5delinsAG) c.5157+4_5157+5delinsAG (n.5157+4_5157+5delinsAG) c.*5673+4_*5673+5delinsAG (n.*5673+4_*5673+5delinsAG) c.*7909+4_*7909+5delinsAG (n.*7909+4_*7909+5delinsAG) c.5160+4_5160+5delinsAG (n.5160+4_5160+5delinsAG) c.5091+4_5091+5delinsAG (n.5091+4_5091+5delinsAG) c.4959+4_4959+5delinsAG (n.4959+4_4959+5delinsAG) c.4992+4_4992+5delinsAG (n.4992+4_4992+5delinsAG) c.1383+4_1383+5delinsAG n.3042+4_3042+5delinsAG c.3814+4_3814+5delinsAG c.5031+4_5031+5delinsAG (n.5031+4_5031+5delinsAG) n.757+4_757+5delinsAG c.4962+4_4962+5delinsAG (n.4962+4_4962+5delinsAG) c.5028+4_5028+5delinsAG (n.5028+4_5028+5delinsAG) c.4953+4_4953+5delinsAG (n.4953+4_4953+5delinsAG) n.2808+4_2808+5delinsAG c.5085+4_5085+5delinsAG (n.5085+4_5085+5delinsAG) c.4963_4964delinsAG (p.Ser1655=) c.4956+4_4956+5delinsAG (n.4956+4_4956+5delinsAG) c.5081+4_5081+5delinsAG n.3244+4_3244+5delinsAG c.5154+4_5154+5delinsAG (n.5154+4_5154+5delinsAG) n.3975+4_3975+5delinsAG n.2412+4_2412+5delinsAG n.2383+4_2383+5delinsAG n.2273+4_2273+5delinsAG c.4815+4_4815+5delinsAG (n.4815+4_4815+5delinsAG) c.*4327+4_*4327+5delinsAG (n.*4327+4_*4327+5delinsAG) c.4851+4_4851+5delinsAG (n.4851+4_4851+5delinsAG) n.2883+4_2883+5delinsAG c.1342+4_1342+5delinsAG n.2275+4_2275+5delinsAG c.5214+4_5214+5delinsAG (n.5214+4_5214+5delinsAG) c.5211+4_5211+5delinsAG (n.5211+4_5211+5delinsAG) c.5103+4_5103+5delinsAG (n.5103+4_5103+5delinsAG) c.5082+4_5082+5delinsAG (n.5082+4_5082+5delinsAG) c.4428+4_4428+5delinsAG (n.4428+4_4428+5delinsAG) c.5376+4_5376+5delinsAG (n.5376+4_5376+5delinsAG) c.5124+4_5124+5delinsAG (n.5124+4_5124+5delinsAG) c.3870+4_3870+5delinsAG (n.3870+4_3870+5delinsAG) |