Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2087984_2088059delCA2580091140TSC2c.*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
16g.2088001_2088035dupCA264497TSC2c.*3418-47_*3418-13dup (n.*3418-47_*3418-13dup)
c.4916-47_4916-13dup (n.4916-47_4916-13dup)
c.5066-47_5066-13dup (n.5066-47_5066-13dup)
c.*5582-47_*5582-13dup (n.*5582-47_*5582-13dup)
c.*7818-47_*7818-13dup (n.*7818-47_*7818-13dup)
c.5069-47_5069-13dup (n.5069-47_5069-13dup)
c.5000-47_5000-13dup (n.5000-47_5000-13dup)
c.4868-47_4868-13dup (n.4868-47_4868-13dup)
c.4901-47_4901-13dup (n.4901-47_4901-13dup)
c.1292-47_1292-13dup
n.2951-47_2951-13dup
c.3723-47_3723-13dup
c.4940-47_4940-13dup (n.4940-47_4940-13dup)
n.666-47_666-13dup
c.4871-47_4871-13dup (n.4871-47_4871-13dup)
c.4937-47_4937-13dup (n.4937-47_4937-13dup)
c.4862-47_4862-13dup (n.4862-47_4862-13dup)
n.1142_1176dup
n.2717-47_2717-13dup
c.4994-47_4994-13dup (n.4994-47_4994-13dup)
n.610_644dup
c.4865-47_4865-13dup (n.4865-47_4865-13dup)
c.4990-47_4990-13dup
n.3153-47_3153-13dup
c.5063-47_5063-13dup (n.5063-47_5063-13dup)
n.3884-47_3884-13dup
n.2321-47_2321-13dup
n.2292-47_2292-13dup
n.2182-47_2182-13dup
c.4724-47_4724-13dup (n.4724-47_4724-13dup)
c.*4236-47_*4236-13dup (n.*4236-47_*4236-13dup)
c.4760-47_4760-13dup (n.4760-47_4760-13dup)
n.2792-47_2792-13dup
c.1251-47_1251-13dup
n.2184-47_2184-13dup
c.5123-47_5123-13dup (n.5123-47_5123-13dup)
c.5120-47_5120-13dup (n.5120-47_5120-13dup)
c.5012-47_5012-13dup (n.5012-47_5012-13dup)
c.4991-47_4991-13dup (n.4991-47_4991-13dup)
c.4337-47_4337-13dup (n.4337-47_4337-13dup)
c.5285-47_5285-13dup (n.5285-47_5285-13dup)
c.5033-47_5033-13dup (n.5033-47_5033-13dup)
c.3779-47_3779-13dup (n.3779-47_3779-13dup)
 ClinVar dbSNP
16g.2088021_2088042delinsCCTGGCGTGACCACCAAGTCTCCA2202030037TSC2c.*3418-27_*3418-6delinsCCTGGCGTGACCACCAAGTCTC (n.*3418-27_*3418-6delinsCCTGGCGTGACCACCAAGTCTC)
c.4916-27_4916-6delinsCCTGGCGTGACCACCAAGTCTC (n.4916-27_4916-6delinsCCTGGCGTGACCACCAAGTCTC)
c.5066-27_5066-6delinsCCTGGCGTGACCACCAAGTCTC (n.5066-27_5066-6delinsCCTGGCGTGACCACCAAGTCTC)
c.*5582-27_*5582-6delinsCCTGGCGTGACCACCAAGTCTC (n.*5582-27_*5582-6delinsCCTGGCGTGACCACCAAGTCTC)
c.*7818-27_*7818-6delinsCCTGGCGTGACCACCAAGTCTC (n.*7818-27_*7818-6delinsCCTGGCGTGACCACCAAGTCTC)
c.5069-27_5069-6delinsCCTGGCGTGACCACCAAGTCTC (n.5069-27_5069-6delinsCCTGGCGTGACCACCAAGTCTC)
c.5000-27_5000-6delinsCCTGGCGTGACCACCAAGTCTC (n.5000-27_5000-6delinsCCTGGCGTGACCACCAAGTCTC)
c.4868-27_4868-6delinsCCTGGCGTGACCACCAAGTCTC (n.4868-27_4868-6delinsCCTGGCGTGACCACCAAGTCTC)
c.4901-27_4901-6delinsCCTGGCGTGACCACCAAGTCTC (n.4901-27_4901-6delinsCCTGGCGTGACCACCAAGTCTC)
c.1292-27_1292-6delinsCCTGGCGTGACCACCAAGTCTC
n.2951-27_2951-6delinsCCTGGCGTGACCACCAAGTCTC
c.3723-27_3723-6delinsCCTGGCGTGACCACCAAGTCTC
c.4940-27_4940-6delinsCCTGGCGTGACCACCAAGTCTC (n.4940-27_4940-6delinsCCTGGCGTGACCACCAAGTCTC)
n.666-27_666-6delinsCCTGGCGTGACCACCAAGTCTC
c.4871-27_4871-6delinsCCTGGCGTGACCACCAAGTCTC (n.4871-27_4871-6delinsCCTGGCGTGACCACCAAGTCTC)
c.4937-27_4937-6delinsCCTGGCGTGACCACCAAGTCTC (n.4937-27_4937-6delinsCCTGGCGTGACCACCAAGTCTC)
c.4862-27_4862-6delinsCCTGGCGTGACCACCAAGTCTC (n.4862-27_4862-6delinsCCTGGCGTGACCACCAAGTCTC)
n.2717-27_2717-6delinsCCTGGCGTGACCACCAAGTCTC
c.4994-27_4994-6delinsCCTGGCGTGACCACCAAGTCTC (n.4994-27_4994-6delinsCCTGGCGTGACCACCAAGTCTC)
c.4865-27_4865-6delinsCCTGGCGTGACCACCAAGTCTC (n.4865-27_4865-6delinsCCTGGCGTGACCACCAAGTCTC)
c.4990-27_4990-6delinsCCTGGCGTGACCACCAAGTCTC
n.3153-27_3153-6delinsCCTGGCGTGACCACCAAGTCTC
c.5063-27_5063-6delinsCCTGGCGTGACCACCAAGTCTC (n.5063-27_5063-6delinsCCTGGCGTGACCACCAAGTCTC)
n.3884-27_3884-6delinsCCTGGCGTGACCACCAAGTCTC
n.2321-27_2321-6delinsCCTGGCGTGACCACCAAGTCTC
n.2292-27_2292-6delinsCCTGGCGTGACCACCAAGTCTC
n.2182-27_2182-6delinsCCTGGCGTGACCACCAAGTCTC
c.4724-27_4724-6delinsCCTGGCGTGACCACCAAGTCTC (n.4724-27_4724-6delinsCCTGGCGTGACCACCAAGTCTC)
c.*4236-27_*4236-6delinsCCTGGCGTGACCACCAAGTCTC (n.*4236-27_*4236-6delinsCCTGGCGTGACCACCAAGTCTC)
c.4760-27_4760-6delinsCCTGGCGTGACCACCAAGTCTC (n.4760-27_4760-6delinsCCTGGCGTGACCACCAAGTCTC)
n.2792-27_2792-6delinsCCTGGCGTGACCACCAAGTCTC
c.1251-27_1251-6delinsCCTGGCGTGACCACCAAGTCTC
n.2184-27_2184-6delinsCCTGGCGTGACCACCAAGTCTC
c.5123-27_5123-6delinsCCTGGCGTGACCACCAAGTCTC (n.5123-27_5123-6delinsCCTGGCGTGACCACCAAGTCTC)
c.5120-27_5120-6delinsCCTGGCGTGACCACCAAGTCTC (n.5120-27_5120-6delinsCCTGGCGTGACCACCAAGTCTC)
c.5012-27_5012-6delinsCCTGGCGTGACCACCAAGTCTC (n.5012-27_5012-6delinsCCTGGCGTGACCACCAAGTCTC)
c.4991-27_4991-6delinsCCTGGCGTGACCACCAAGTCTC (n.4991-27_4991-6delinsCCTGGCGTGACCACCAAGTCTC)
c.4337-27_4337-6delinsCCTGGCGTGACCACCAAGTCTC (n.4337-27_4337-6delinsCCTGGCGTGACCACCAAGTCTC)
c.5285-27_5285-6delinsCCTGGCGTGACCACCAAGTCTC (n.5285-27_5285-6delinsCCTGGCGTGACCACCAAGTCTC)
c.5033-27_5033-6delinsCCTGGCGTGACCACCAAGTCTC (n.5033-27_5033-6delinsCCTGGCGTGACCACCAAGTCTC)
c.3779-27_3779-6delinsCCTGGCGTGACCACCAAGTCTC (n.3779-27_3779-6delinsCCTGGCGTGACCACCAAGTCTC)
16g.2088022_2088042delinsGCCAAGAGCA658798496TSC2c.*3418-26_*3418-6delinsGCCAAGAG (n.*3418-26_*3418-6delinsGCCAAGAG)
c.4916-26_4916-6delinsGCCAAGAG (n.4916-26_4916-6delinsGCCAAGAG)
c.5066-26_5066-6delinsGCCAAGAG (n.5066-26_5066-6delinsGCCAAGAG)
c.*5582-26_*5582-6delinsGCCAAGAG (n.*5582-26_*5582-6delinsGCCAAGAG)
c.*7818-26_*7818-6delinsGCCAAGAG (n.*7818-26_*7818-6delinsGCCAAGAG)
c.5069-26_5069-6delinsGCCAAGAG (n.5069-26_5069-6delinsGCCAAGAG)
c.5000-26_5000-6delinsGCCAAGAG (n.5000-26_5000-6delinsGCCAAGAG)
c.4868-26_4868-6delinsGCCAAGAG (n.4868-26_4868-6delinsGCCAAGAG)
c.4901-26_4901-6delinsGCCAAGAG (n.4901-26_4901-6delinsGCCAAGAG)
c.1292-26_1292-6delinsGCCAAGAG
n.2951-26_2951-6delinsGCCAAGAG
c.3723-26_3723-6delinsGCCAAGAG
c.4940-26_4940-6delinsGCCAAGAG (n.4940-26_4940-6delinsGCCAAGAG)
n.666-26_666-6delinsGCCAAGAG
c.4871-26_4871-6delinsGCCAAGAG (n.4871-26_4871-6delinsGCCAAGAG)
c.4937-26_4937-6delinsGCCAAGAG (n.4937-26_4937-6delinsGCCAAGAG)
c.4862-26_4862-6delinsGCCAAGAG (n.4862-26_4862-6delinsGCCAAGAG)
n.2717-26_2717-6delinsGCCAAGAG
c.4994-26_4994-6delinsGCCAAGAG (n.4994-26_4994-6delinsGCCAAGAG)
c.4865-26_4865-6delinsGCCAAGAG (n.4865-26_4865-6delinsGCCAAGAG)
c.4990-26_4990-6delinsGCCAAGAG
n.3153-26_3153-6delinsGCCAAGAG
c.5063-26_5063-6delinsGCCAAGAG (n.5063-26_5063-6delinsGCCAAGAG)
n.3884-26_3884-6delinsGCCAAGAG
n.2321-26_2321-6delinsGCCAAGAG
n.2292-26_2292-6delinsGCCAAGAG
n.2182-26_2182-6delinsGCCAAGAG
c.4724-26_4724-6delinsGCCAAGAG (n.4724-26_4724-6delinsGCCAAGAG)
c.*4236-26_*4236-6delinsGCCAAGAG (n.*4236-26_*4236-6delinsGCCAAGAG)
c.4760-26_4760-6delinsGCCAAGAG (n.4760-26_4760-6delinsGCCAAGAG)
n.2792-26_2792-6delinsGCCAAGAG
c.1251-26_1251-6delinsGCCAAGAG
n.2184-26_2184-6delinsGCCAAGAG
c.5123-26_5123-6delinsGCCAAGAG (n.5123-26_5123-6delinsGCCAAGAG)
c.5120-26_5120-6delinsGCCAAGAG (n.5120-26_5120-6delinsGCCAAGAG)
c.5012-26_5012-6delinsGCCAAGAG (n.5012-26_5012-6delinsGCCAAGAG)
c.4991-26_4991-6delinsGCCAAGAG (n.4991-26_4991-6delinsGCCAAGAG)
c.4337-26_4337-6delinsGCCAAGAG (n.4337-26_4337-6delinsGCCAAGAG)
c.5285-26_5285-6delinsGCCAAGAG (n.5285-26_5285-6delinsGCCAAGAG)
c.5033-26_5033-6delinsGCCAAGAG (n.5033-26_5033-6delinsGCCAAGAG)
c.3779-26_3779-6delinsGCCAAGAG (n.3779-26_3779-6delinsGCCAAGAG)
 ClinVar dbSNP
16g.2088026C>ACA2731568488TSC2c.*3418-22C>A (n.*3418-22C>A)
c.4916-22C>A (n.4916-22C>A)
c.5066-22C>A (n.5066-22C>A)
c.*5582-22C>A (n.*5582-22C>A)
c.*7818-22C>A (n.*7818-22C>A)
c.5069-22C>A (n.5069-22C>A)
c.5000-22C>A (n.5000-22C>A)
c.4868-22C>A (n.4868-22C>A)
c.4901-22C>A (n.4901-22C>A)
c.1292-22C>A
n.2951-22C>A
c.3723-22C>A
c.4940-22C>A (n.4940-22C>A)
n.666-22C>A
c.4871-22C>A (n.4871-22C>A)
c.4937-22C>A (n.4937-22C>A)
c.4862-22C>A (n.4862-22C>A)
n.1167C>A
n.2717-22C>A
c.4994-22C>A (n.4994-22C>A)
n.635C>A
c.4865-22C>A (n.4865-22C>A)
c.4990-22C>A
n.3153-22C>A
c.5063-22C>A (n.5063-22C>A)
n.3884-22C>A
n.2321-22C>A
n.2292-22C>A
n.2182-22C>A
c.4724-22C>A (n.4724-22C>A)
c.*4236-22C>A (n.*4236-22C>A)
c.4760-22C>A (n.4760-22C>A)
n.2792-22C>A
c.1251-22C>A
n.2184-22C>A
c.5123-22C>A (n.5123-22C>A)
c.5120-22C>A (n.5120-22C>A)
c.5012-22C>A (n.5012-22C>A)
c.4991-22C>A (n.4991-22C>A)
c.4337-22C>A (n.4337-22C>A)
c.5285-22C>A (n.5285-22C>A)
c.5033-22C>A (n.5033-22C>A)
c.3779-22C>A (n.3779-22C>A)
 dbSNP
16g.2088026C=CA2202030094TSC2c.*3418-22C= (n.*3418-22C=)
c.4916-22C= (n.4916-22C=)
c.5066-22C= (n.5066-22C=)
c.*5582-22C= (n.*5582-22C=)
c.*7818-22C= (n.*7818-22C=)
c.5069-22C= (n.5069-22C=)
c.5000-22C= (n.5000-22C=)
c.4868-22C= (n.4868-22C=)
c.4901-22C= (n.4901-22C=)
c.1292-22C=
n.2951-22C=
c.3723-22C=
c.4940-22C= (n.4940-22C=)
n.666-22C=
c.4871-22C= (n.4871-22C=)
c.4937-22C= (n.4937-22C=)
c.4862-22C= (n.4862-22C=)
n.1167C=
n.2717-22C=
c.4994-22C= (n.4994-22C=)
n.635C=
c.4865-22C= (n.4865-22C=)
c.4990-22C=
n.3153-22C=
c.5063-22C= (n.5063-22C=)
n.3884-22C=
n.2321-22C=
n.2292-22C=
n.2182-22C=
c.4724-22C= (n.4724-22C=)
c.*4236-22C= (n.*4236-22C=)
c.4760-22C= (n.4760-22C=)
n.2792-22C=
c.1251-22C=
n.2184-22C=
c.5123-22C= (n.5123-22C=)
c.5120-22C= (n.5120-22C=)
c.5012-22C= (n.5012-22C=)
c.4991-22C= (n.4991-22C=)
c.4337-22C= (n.4337-22C=)
c.5285-22C= (n.5285-22C=)
c.5033-22C= (n.5033-22C=)
c.3779-22C= (n.3779-22C=)
16g.2088026C>GCA2731568487TSC2c.*3418-22C>G (n.*3418-22C>G)
c.4916-22C>G (n.4916-22C>G)
c.5066-22C>G (n.5066-22C>G)
c.*5582-22C>G (n.*5582-22C>G)
c.*7818-22C>G (n.*7818-22C>G)
c.5069-22C>G (n.5069-22C>G)
c.5000-22C>G (n.5000-22C>G)
c.4868-22C>G (n.4868-22C>G)
c.4901-22C>G (n.4901-22C>G)
c.1292-22C>G
n.2951-22C>G
c.3723-22C>G
c.4940-22C>G (n.4940-22C>G)
n.666-22C>G
c.4871-22C>G (n.4871-22C>G)
c.4937-22C>G (n.4937-22C>G)
c.4862-22C>G (n.4862-22C>G)
n.1167C>G
n.2717-22C>G
c.4994-22C>G (n.4994-22C>G)
n.635C>G
c.4865-22C>G (n.4865-22C>G)
c.4990-22C>G
n.3153-22C>G
c.5063-22C>G (n.5063-22C>G)
n.3884-22C>G
n.2321-22C>G
n.2292-22C>G
n.2182-22C>G
c.4724-22C>G (n.4724-22C>G)
c.*4236-22C>G (n.*4236-22C>G)
c.4760-22C>G (n.4760-22C>G)
n.2792-22C>G
c.1251-22C>G
n.2184-22C>G
c.5123-22C>G (n.5123-22C>G)
c.5120-22C>G (n.5120-22C>G)
c.5012-22C>G (n.5012-22C>G)
c.4991-22C>G (n.4991-22C>G)
c.4337-22C>G (n.4337-22C>G)
c.5285-22C>G (n.5285-22C>G)
c.5033-22C>G (n.5033-22C>G)
c.3779-22C>G (n.3779-22C>G)
 dbSNP
16g.2088026C>TCA021661TSC2c.*3418-22C>T (n.*3418-22C>T)
c.4916-22C>T (n.4916-22C>T)
c.5066-22C>T (n.5066-22C>T)
c.*5582-22C>T (n.*5582-22C>T)
c.*7818-22C>T (n.*7818-22C>T)
c.5069-22C>T (n.5069-22C>T)
c.5000-22C>T (n.5000-22C>T)
c.4868-22C>T (n.4868-22C>T)
c.4901-22C>T (n.4901-22C>T)
c.1292-22C>T
n.2951-22C>T
c.3723-22C>T
c.4940-22C>T (n.4940-22C>T)
n.666-22C>T
c.4871-22C>T (n.4871-22C>T)
c.4937-22C>T (n.4937-22C>T)
c.4862-22C>T (n.4862-22C>T)
n.1167C>T
n.2717-22C>T
c.4994-22C>T (n.4994-22C>T)
n.635C>T
c.4865-22C>T (n.4865-22C>T)
c.4990-22C>T
n.3153-22C>T
c.5063-22C>T (n.5063-22C>T)
n.3884-22C>T
n.2321-22C>T
n.2292-22C>T
n.2182-22C>T
c.4724-22C>T (n.4724-22C>T)
c.*4236-22C>T (n.*4236-22C>T)
c.4760-22C>T (n.4760-22C>T)
n.2792-22C>T
c.1251-22C>T
n.2184-22C>T
c.5123-22C>T (n.5123-22C>T)
c.5120-22C>T (n.5120-22C>T)
c.5012-22C>T (n.5012-22C>T)
c.4991-22C>T (n.4991-22C>T)
c.4337-22C>T (n.4337-22C>T)
c.5285-22C>T (n.5285-22C>T)
c.5033-22C>T (n.5033-22C>T)
c.3779-22C>T (n.3779-22C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088027G>ACA021656TSC2c.*3418-21G>A (n.*3418-21G>A)
c.4916-21G>A (n.4916-21G>A)
c.5066-21G>A (n.5066-21G>A)
c.*5582-21G>A (n.*5582-21G>A)
c.*7818-21G>A (n.*7818-21G>A)
c.5069-21G>A (n.5069-21G>A)
c.5000-21G>A (n.5000-21G>A)
c.4868-21G>A (n.4868-21G>A)
c.4901-21G>A (n.4901-21G>A)
c.1292-21G>A
n.2951-21G>A
c.3723-21G>A
c.4940-21G>A (n.4940-21G>A)
n.666-21G>A
c.4871-21G>A (n.4871-21G>A)
c.4937-21G>A (n.4937-21G>A)
c.4862-21G>A (n.4862-21G>A)
n.1168G>A
n.2717-21G>A
c.4994-21G>A (n.4994-21G>A)
n.636G>A
c.4865-21G>A (n.4865-21G>A)
c.4990-21G>A
n.3153-21G>A
c.5063-21G>A (n.5063-21G>A)
n.3884-21G>A
n.2321-21G>A
n.2292-21G>A
n.2182-21G>A
c.4724-21G>A (n.4724-21G>A)
c.*4236-21G>A (n.*4236-21G>A)
c.4760-21G>A (n.4760-21G>A)
n.2792-21G>A
c.1251-21G>A
n.2184-21G>A
c.5123-21G>A (n.5123-21G>A)
c.5120-21G>A (n.5120-21G>A)
c.5012-21G>A (n.5012-21G>A)
c.4991-21G>A (n.4991-21G>A)
c.4337-21G>A (n.4337-21G>A)
c.5285-21G>A (n.5285-21G>A)
c.5033-21G>A (n.5033-21G>A)
c.3779-21G>A (n.3779-21G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088027G>CCA2631117799TSC2c.*3418-21G>C (n.*3418-21G>C)
c.4916-21G>C (n.4916-21G>C)
c.5066-21G>C (n.5066-21G>C)
c.*5582-21G>C (n.*5582-21G>C)
c.*7818-21G>C (n.*7818-21G>C)
c.5069-21G>C (n.5069-21G>C)
c.5000-21G>C (n.5000-21G>C)
c.4868-21G>C (n.4868-21G>C)
c.4901-21G>C (n.4901-21G>C)
c.1292-21G>C
n.2951-21G>C
c.3723-21G>C
c.4940-21G>C (n.4940-21G>C)
n.666-21G>C
c.4871-21G>C (n.4871-21G>C)
c.4937-21G>C (n.4937-21G>C)
c.4862-21G>C (n.4862-21G>C)
n.1168G>C
n.2717-21G>C
c.4994-21G>C (n.4994-21G>C)
n.636G>C
c.4865-21G>C (n.4865-21G>C)
c.4990-21G>C
n.3153-21G>C
c.5063-21G>C (n.5063-21G>C)
n.3884-21G>C
n.2321-21G>C
n.2292-21G>C
n.2182-21G>C
c.4724-21G>C (n.4724-21G>C)
c.*4236-21G>C (n.*4236-21G>C)
c.4760-21G>C (n.4760-21G>C)
n.2792-21G>C
c.1251-21G>C
n.2184-21G>C
c.5123-21G>C (n.5123-21G>C)
c.5120-21G>C (n.5120-21G>C)
c.5012-21G>C (n.5012-21G>C)
c.4991-21G>C (n.4991-21G>C)
c.4337-21G>C (n.4337-21G>C)
c.5285-21G>C (n.5285-21G>C)
c.5033-21G>C (n.5033-21G>C)
c.3779-21G>C (n.3779-21G>C)
 dbSNP gnomAD v4
16g.2088027G=CA2202030098TSC2c.*3418-21G= (n.*3418-21G=)
c.4916-21G= (n.4916-21G=)
c.5066-21G= (n.5066-21G=)
c.*5582-21G= (n.*5582-21G=)
c.*7818-21G= (n.*7818-21G=)
c.5069-21G= (n.5069-21G=)
c.5000-21G= (n.5000-21G=)
c.4868-21G= (n.4868-21G=)
c.4901-21G= (n.4901-21G=)
c.1292-21G=
n.2951-21G=
c.3723-21G=
c.4940-21G= (n.4940-21G=)
n.666-21G=
c.4871-21G= (n.4871-21G=)
c.4937-21G= (n.4937-21G=)
c.4862-21G= (n.4862-21G=)
n.1168G=
n.2717-21G=
c.4994-21G= (n.4994-21G=)
n.636G=
c.4865-21G= (n.4865-21G=)
c.4990-21G=
n.3153-21G=
c.5063-21G= (n.5063-21G=)
n.3884-21G=
n.2321-21G=
n.2292-21G=
n.2182-21G=
c.4724-21G= (n.4724-21G=)
c.*4236-21G= (n.*4236-21G=)
c.4760-21G= (n.4760-21G=)
n.2792-21G=
c.1251-21G=
n.2184-21G=
c.5123-21G= (n.5123-21G=)
c.5120-21G= (n.5120-21G=)
c.5012-21G= (n.5012-21G=)
c.4991-21G= (n.4991-21G=)
c.4337-21G= (n.4337-21G=)
c.5285-21G= (n.5285-21G=)
c.5033-21G= (n.5033-21G=)
c.3779-21G= (n.3779-21G=)
16g.2088027G>TCA620705114TSC2c.*3418-21G>T (n.*3418-21G>T)
c.4916-21G>T (n.4916-21G>T)
c.5066-21G>T (n.5066-21G>T)
c.*5582-21G>T (n.*5582-21G>T)
c.*7818-21G>T (n.*7818-21G>T)
c.5069-21G>T (n.5069-21G>T)
c.5000-21G>T (n.5000-21G>T)
c.4868-21G>T (n.4868-21G>T)
c.4901-21G>T (n.4901-21G>T)
c.1292-21G>T
n.2951-21G>T
c.3723-21G>T
c.4940-21G>T (n.4940-21G>T)
n.666-21G>T
c.4871-21G>T (n.4871-21G>T)
c.4937-21G>T (n.4937-21G>T)
c.4862-21G>T (n.4862-21G>T)
n.1168G>T
n.2717-21G>T
c.4994-21G>T (n.4994-21G>T)
n.636G>T
c.4865-21G>T (n.4865-21G>T)
c.4990-21G>T
n.3153-21G>T
c.5063-21G>T (n.5063-21G>T)
n.3884-21G>T
n.2321-21G>T
n.2292-21G>T
n.2182-21G>T
c.4724-21G>T (n.4724-21G>T)
c.*4236-21G>T (n.*4236-21G>T)
c.4760-21G>T (n.4760-21G>T)
n.2792-21G>T
c.1251-21G>T
n.2184-21G>T
c.5123-21G>T (n.5123-21G>T)
c.5120-21G>T (n.5120-21G>T)
c.5012-21G>T (n.5012-21G>T)
c.4991-21G>T (n.4991-21G>T)
c.4337-21G>T (n.4337-21G>T)
c.5285-21G>T (n.5285-21G>T)
c.5033-21G>T (n.5033-21G>T)
c.3779-21G>T (n.3779-21G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.2088028T>ACA2731845266TSC2c.*3418-20T>A (n.*3418-20T>A)
c.4916-20T>A (n.4916-20T>A)
c.5066-20T>A (n.5066-20T>A)
c.*5582-20T>A (n.*5582-20T>A)
c.*7818-20T>A (n.*7818-20T>A)
c.5069-20T>A (n.5069-20T>A)
c.5000-20T>A (n.5000-20T>A)
c.4868-20T>A (n.4868-20T>A)
c.4901-20T>A (n.4901-20T>A)
c.1292-20T>A
n.2951-20T>A
c.3723-20T>A
c.4940-20T>A (n.4940-20T>A)
n.666-20T>A
c.4871-20T>A (n.4871-20T>A)
c.4937-20T>A (n.4937-20T>A)
c.4862-20T>A (n.4862-20T>A)
n.1169T>A
n.2717-20T>A
c.4994-20T>A (n.4994-20T>A)
n.637T>A
c.4865-20T>A (n.4865-20T>A)
c.4990-20T>A
n.3153-20T>A
c.5063-20T>A (n.5063-20T>A)
n.3884-20T>A
n.2321-20T>A
n.2292-20T>A
n.2182-20T>A
c.4724-20T>A (n.4724-20T>A)
c.*4236-20T>A (n.*4236-20T>A)
c.4760-20T>A (n.4760-20T>A)
n.2792-20T>A
c.1251-20T>A
n.2184-20T>A
c.5123-20T>A (n.5123-20T>A)
c.5120-20T>A (n.5120-20T>A)
c.5012-20T>A (n.5012-20T>A)
c.4991-20T>A (n.4991-20T>A)
c.4337-20T>A (n.4337-20T>A)
c.5285-20T>A (n.5285-20T>A)
c.5033-20T>A (n.5033-20T>A)
c.3779-20T>A (n.3779-20T>A)
 dbSNP
16g.2088028T>GCA2731845348TSC2c.*3418-20T>G (n.*3418-20T>G)
c.4916-20T>G (n.4916-20T>G)
c.5066-20T>G (n.5066-20T>G)
c.*5582-20T>G (n.*5582-20T>G)
c.*7818-20T>G (n.*7818-20T>G)
c.5069-20T>G (n.5069-20T>G)
c.5000-20T>G (n.5000-20T>G)
c.4868-20T>G (n.4868-20T>G)
c.4901-20T>G (n.4901-20T>G)
c.1292-20T>G
n.2951-20T>G
c.3723-20T>G
c.4940-20T>G (n.4940-20T>G)
n.666-20T>G
c.4871-20T>G (n.4871-20T>G)
c.4937-20T>G (n.4937-20T>G)
c.4862-20T>G (n.4862-20T>G)
n.1169T>G
n.2717-20T>G
c.4994-20T>G (n.4994-20T>G)
n.637T>G
c.4865-20T>G (n.4865-20T>G)
c.4990-20T>G
n.3153-20T>G
c.5063-20T>G (n.5063-20T>G)
n.3884-20T>G
n.2321-20T>G
n.2292-20T>G
n.2182-20T>G
c.4724-20T>G (n.4724-20T>G)
c.*4236-20T>G (n.*4236-20T>G)
c.4760-20T>G (n.4760-20T>G)
n.2792-20T>G
c.1251-20T>G
n.2184-20T>G
c.5123-20T>G (n.5123-20T>G)
c.5120-20T>G (n.5120-20T>G)
c.5012-20T>G (n.5012-20T>G)
c.4991-20T>G (n.4991-20T>G)
c.4337-20T>G (n.4337-20T>G)
c.5285-20T>G (n.5285-20T>G)
c.5033-20T>G (n.5033-20T>G)
c.3779-20T>G (n.3779-20T>G)
 dbSNP
16g.2088028dupCA2631117801TSC2c.*3418-20dup (n.*3418-20dup)
c.4916-20dup (n.4916-20dup)
c.5066-20dup (n.5066-20dup)
c.*5582-20dup (n.*5582-20dup)
c.*7818-20dup (n.*7818-20dup)
c.5069-20dup (n.5069-20dup)
c.5000-20dup (n.5000-20dup)
c.4868-20dup (n.4868-20dup)
c.4901-20dup (n.4901-20dup)
c.1292-20dup
n.2951-20dup
c.3723-20dup
c.4940-20dup (n.4940-20dup)
n.666-20dup
c.4871-20dup (n.4871-20dup)
c.4937-20dup (n.4937-20dup)
c.4862-20dup (n.4862-20dup)
n.1169dup
n.2717-20dup
c.4994-20dup (n.4994-20dup)
n.637dup
c.4865-20dup (n.4865-20dup)
c.4990-20dup
n.3153-20dup
c.5063-20dup (n.5063-20dup)
n.3884-20dup
n.2321-20dup
n.2292-20dup
n.2182-20dup
c.4724-20dup (n.4724-20dup)
c.*4236-20dup (n.*4236-20dup)
c.4760-20dup (n.4760-20dup)
n.2792-20dup
c.1251-20dup
n.2184-20dup
c.5123-20dup (n.5123-20dup)
c.5120-20dup (n.5120-20dup)
c.5012-20dup (n.5012-20dup)
c.4991-20dup (n.4991-20dup)
c.4337-20dup (n.4337-20dup)
c.5285-20dup (n.5285-20dup)
c.5033-20dup (n.5033-20dup)
c.3779-20dup (n.3779-20dup)
 gnomAD v4
16g.2088029G>ACA053777TSC2c.*3418-19G>A (n.*3418-19G>A)
c.4916-19G>A (n.4916-19G>A)
c.5066-19G>A (n.5066-19G>A)
c.*5582-19G>A (n.*5582-19G>A)
c.*7818-19G>A (n.*7818-19G>A)
c.5069-19G>A (n.5069-19G>A)
c.5000-19G>A (n.5000-19G>A)
c.4868-19G>A (n.4868-19G>A)
c.4901-19G>A (n.4901-19G>A)
c.1292-19G>A
n.2951-19G>A
c.3723-19G>A
c.4940-19G>A (n.4940-19G>A)
n.666-19G>A
c.4871-19G>A (n.4871-19G>A)
c.4937-19G>A (n.4937-19G>A)
c.4862-19G>A (n.4862-19G>A)
n.1170G>A
n.2717-19G>A
c.4994-19G>A (n.4994-19G>A)
n.638G>A
c.4865-19G>A (n.4865-19G>A)
c.4990-19G>A
n.3153-19G>A
c.5063-19G>A (n.5063-19G>A)
n.3884-19G>A
n.2321-19G>A
n.2292-19G>A
n.2182-19G>A
c.4724-19G>A (n.4724-19G>A)
c.*4236-19G>A (n.*4236-19G>A)
c.4760-19G>A (n.4760-19G>A)
n.2792-19G>A
c.1251-19G>A
n.2184-19G>A
c.5123-19G>A (n.5123-19G>A)
c.5120-19G>A (n.5120-19G>A)
c.5012-19G>A (n.5012-19G>A)
c.4991-19G>A (n.4991-19G>A)
c.4337-19G>A (n.4337-19G>A)
c.5285-19G>A (n.5285-19G>A)
c.5033-19G>A (n.5033-19G>A)
c.3779-19G>A (n.3779-19G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088029G>CCA2731579029TSC2c.*3418-19G>C (n.*3418-19G>C)
c.4916-19G>C (n.4916-19G>C)
c.5066-19G>C (n.5066-19G>C)
c.*5582-19G>C (n.*5582-19G>C)
c.*7818-19G>C (n.*7818-19G>C)
c.5069-19G>C (n.5069-19G>C)
c.5000-19G>C (n.5000-19G>C)
c.4868-19G>C (n.4868-19G>C)
c.4901-19G>C (n.4901-19G>C)
c.1292-19G>C
n.2951-19G>C
c.3723-19G>C
c.4940-19G>C (n.4940-19G>C)
n.666-19G>C
c.4871-19G>C (n.4871-19G>C)
c.4937-19G>C (n.4937-19G>C)
c.4862-19G>C (n.4862-19G>C)
n.1170G>C
n.2717-19G>C
c.4994-19G>C (n.4994-19G>C)
n.638G>C
c.4865-19G>C (n.4865-19G>C)
c.4990-19G>C
n.3153-19G>C
c.5063-19G>C (n.5063-19G>C)
n.3884-19G>C
n.2321-19G>C
n.2292-19G>C
n.2182-19G>C
c.4724-19G>C (n.4724-19G>C)
c.*4236-19G>C (n.*4236-19G>C)
c.4760-19G>C (n.4760-19G>C)
n.2792-19G>C
c.1251-19G>C
n.2184-19G>C
c.5123-19G>C (n.5123-19G>C)
c.5120-19G>C (n.5120-19G>C)
c.5012-19G>C (n.5012-19G>C)
c.4991-19G>C (n.4991-19G>C)
c.4337-19G>C (n.4337-19G>C)
c.5285-19G>C (n.5285-19G>C)
c.5033-19G>C (n.5033-19G>C)
c.3779-19G>C (n.3779-19G>C)
 dbSNP
16g.2088029G=CA2202030104TSC2c.*3418-19G= (n.*3418-19G=)
c.4916-19G= (n.4916-19G=)
c.5066-19G= (n.5066-19G=)
c.*5582-19G= (n.*5582-19G=)
c.*7818-19G= (n.*7818-19G=)
c.5069-19G= (n.5069-19G=)
c.5000-19G= (n.5000-19G=)
c.4868-19G= (n.4868-19G=)
c.4901-19G= (n.4901-19G=)
c.1292-19G=
n.2951-19G=
c.3723-19G=
c.4940-19G= (n.4940-19G=)
n.666-19G=
c.4871-19G= (n.4871-19G=)
c.4937-19G= (n.4937-19G=)
c.4862-19G= (n.4862-19G=)
n.1170G=
n.2717-19G=
c.4994-19G= (n.4994-19G=)
n.638G=
c.4865-19G= (n.4865-19G=)
c.4990-19G=
n.3153-19G=
c.5063-19G= (n.5063-19G=)
n.3884-19G=
n.2321-19G=
n.2292-19G=
n.2182-19G=
c.4724-19G= (n.4724-19G=)
c.*4236-19G= (n.*4236-19G=)
c.4760-19G= (n.4760-19G=)
n.2792-19G=
c.1251-19G=
n.2184-19G=
c.5123-19G= (n.5123-19G=)
c.5120-19G= (n.5120-19G=)
c.5012-19G= (n.5012-19G=)
c.4991-19G= (n.4991-19G=)
c.4337-19G= (n.4337-19G=)
c.5285-19G= (n.5285-19G=)
c.5033-19G= (n.5033-19G=)
c.3779-19G= (n.3779-19G=)
16g.2088029G>TCA2202030106TSC2c.*3418-19G>T (n.*3418-19G>T)
c.4916-19G>T (n.4916-19G>T)
c.5066-19G>T (n.5066-19G>T)
c.*5582-19G>T (n.*5582-19G>T)
c.*7818-19G>T (n.*7818-19G>T)
c.5069-19G>T (n.5069-19G>T)
c.5000-19G>T (n.5000-19G>T)
c.4868-19G>T (n.4868-19G>T)
c.4901-19G>T (n.4901-19G>T)
c.1292-19G>T
n.2951-19G>T
c.3723-19G>T
c.4940-19G>T (n.4940-19G>T)
n.666-19G>T
c.4871-19G>T (n.4871-19G>T)
c.4937-19G>T (n.4937-19G>T)
c.4862-19G>T (n.4862-19G>T)
n.1170G>T
n.2717-19G>T
c.4994-19G>T (n.4994-19G>T)
n.638G>T
c.4865-19G>T (n.4865-19G>T)
c.4990-19G>T
n.3153-19G>T
c.5063-19G>T (n.5063-19G>T)
n.3884-19G>T
n.2321-19G>T
n.2292-19G>T
n.2182-19G>T
c.4724-19G>T (n.4724-19G>T)
c.*4236-19G>T (n.*4236-19G>T)
c.4760-19G>T (n.4760-19G>T)
n.2792-19G>T
c.1251-19G>T
n.2184-19G>T
c.5123-19G>T (n.5123-19G>T)
c.5120-19G>T (n.5120-19G>T)
c.5012-19G>T (n.5012-19G>T)
c.4991-19G>T (n.4991-19G>T)
c.4337-19G>T (n.4337-19G>T)
c.5285-19G>T (n.5285-19G>T)
c.5033-19G>T (n.5033-19G>T)
c.3779-19G>T (n.3779-19G>T)
 ClinVar dbSNP gnomAD v4
16g.2088029_2088032delinsGACCCA2202030103TSC2c.*3418-19_*3418-16delinsGACC (n.*3418-19_*3418-16delinsGACC)
c.4916-19_4916-16delinsGACC (n.4916-19_4916-16delinsGACC)
c.5066-19_5066-16delinsGACC (n.5066-19_5066-16delinsGACC)
c.*5582-19_*5582-16delinsGACC (n.*5582-19_*5582-16delinsGACC)
c.*7818-19_*7818-16delinsGACC (n.*7818-19_*7818-16delinsGACC)
c.5069-19_5069-16delinsGACC (n.5069-19_5069-16delinsGACC)
c.5000-19_5000-16delinsGACC (n.5000-19_5000-16delinsGACC)
c.4868-19_4868-16delinsGACC (n.4868-19_4868-16delinsGACC)
c.4901-19_4901-16delinsGACC (n.4901-19_4901-16delinsGACC)
c.1292-19_1292-16delinsGACC
n.2951-19_2951-16delinsGACC
c.3723-19_3723-16delinsGACC
c.4940-19_4940-16delinsGACC (n.4940-19_4940-16delinsGACC)
n.666-19_666-16delinsGACC
c.4871-19_4871-16delinsGACC (n.4871-19_4871-16delinsGACC)
c.4937-19_4937-16delinsGACC (n.4937-19_4937-16delinsGACC)
c.4862-19_4862-16delinsGACC (n.4862-19_4862-16delinsGACC)
n.1170_1173delinsGACC
n.2717-19_2717-16delinsGACC
c.4994-19_4994-16delinsGACC (n.4994-19_4994-16delinsGACC)
n.638_641delinsGACC
c.4865-19_4865-16delinsGACC (n.4865-19_4865-16delinsGACC)
c.4990-19_4990-16delinsGACC
n.3153-19_3153-16delinsGACC
c.5063-19_5063-16delinsGACC (n.5063-19_5063-16delinsGACC)
n.3884-19_3884-16delinsGACC
n.2321-19_2321-16delinsGACC
n.2292-19_2292-16delinsGACC
n.2182-19_2182-16delinsGACC
c.4724-19_4724-16delinsGACC (n.4724-19_4724-16delinsGACC)
c.*4236-19_*4236-16delinsGACC (n.*4236-19_*4236-16delinsGACC)
c.4760-19_4760-16delinsGACC (n.4760-19_4760-16delinsGACC)
n.2792-19_2792-16delinsGACC
c.1251-19_1251-16delinsGACC
n.2184-19_2184-16delinsGACC
c.5123-19_5123-16delinsGACC (n.5123-19_5123-16delinsGACC)
c.5120-19_5120-16delinsGACC (n.5120-19_5120-16delinsGACC)
c.5012-19_5012-16delinsGACC (n.5012-19_5012-16delinsGACC)
c.4991-19_4991-16delinsGACC (n.4991-19_4991-16delinsGACC)
c.4337-19_4337-16delinsGACC (n.4337-19_4337-16delinsGACC)
c.5285-19_5285-16delinsGACC (n.5285-19_5285-16delinsGACC)
c.5033-19_5033-16delinsGACC (n.5033-19_5033-16delinsGACC)
c.3779-19_3779-16delinsGACC (n.3779-19_3779-16delinsGACC)
16g.2088030A=CA2202030116TSC2c.*3418-18A= (n.*3418-18A=)
c.4916-18A= (n.4916-18A=)
c.5066-18A= (n.5066-18A=)
c.*5582-18A= (n.*5582-18A=)
c.*7818-18A= (n.*7818-18A=)
c.5069-18A= (n.5069-18A=)
c.5000-18A= (n.5000-18A=)
c.4868-18A= (n.4868-18A=)
c.4901-18A= (n.4901-18A=)
c.1292-18A=
n.2951-18A=
c.3723-18A=
c.4940-18A= (n.4940-18A=)
n.666-18A=
c.4871-18A= (n.4871-18A=)
c.4937-18A= (n.4937-18A=)
c.4862-18A= (n.4862-18A=)
n.1171A=
n.2717-18A=
c.4994-18A= (n.4994-18A=)
n.639A=
c.4865-18A= (n.4865-18A=)
c.4990-18A=
n.3153-18A=
c.5063-18A= (n.5063-18A=)
n.3884-18A=
n.2321-18A=
n.2292-18A=
n.2182-18A=
c.4724-18A= (n.4724-18A=)
c.*4236-18A= (n.*4236-18A=)
c.4760-18A= (n.4760-18A=)
n.2792-18A=
c.1251-18A=
n.2184-18A=
c.5123-18A= (n.5123-18A=)
c.5120-18A= (n.5120-18A=)
c.5012-18A= (n.5012-18A=)
c.4991-18A= (n.4991-18A=)
c.4337-18A= (n.4337-18A=)
c.5285-18A= (n.5285-18A=)
c.5033-18A= (n.5033-18A=)
c.3779-18A= (n.3779-18A=)
16g.2088030A>CCA2731567132TSC2c.*3418-18A>C (n.*3418-18A>C)
c.4916-18A>C (n.4916-18A>C)
c.5066-18A>C (n.5066-18A>C)
c.*5582-18A>C (n.*5582-18A>C)
c.*7818-18A>C (n.*7818-18A>C)
c.5069-18A>C (n.5069-18A>C)
c.5000-18A>C (n.5000-18A>C)
c.4868-18A>C (n.4868-18A>C)
c.4901-18A>C (n.4901-18A>C)
c.1292-18A>C
n.2951-18A>C
c.3723-18A>C
c.4940-18A>C (n.4940-18A>C)
n.666-18A>C
c.4871-18A>C (n.4871-18A>C)
c.4937-18A>C (n.4937-18A>C)
c.4862-18A>C (n.4862-18A>C)
n.1171A>C
n.2717-18A>C
c.4994-18A>C (n.4994-18A>C)
n.639A>C
c.4865-18A>C (n.4865-18A>C)
c.4990-18A>C
n.3153-18A>C
c.5063-18A>C (n.5063-18A>C)
n.3884-18A>C
n.2321-18A>C
n.2292-18A>C
n.2182-18A>C
c.4724-18A>C (n.4724-18A>C)
c.*4236-18A>C (n.*4236-18A>C)
c.4760-18A>C (n.4760-18A>C)
n.2792-18A>C
c.1251-18A>C
n.2184-18A>C
c.5123-18A>C (n.5123-18A>C)
c.5120-18A>C (n.5120-18A>C)
c.5012-18A>C (n.5012-18A>C)
c.4991-18A>C (n.4991-18A>C)
c.4337-18A>C (n.4337-18A>C)
c.5285-18A>C (n.5285-18A>C)
c.5033-18A>C (n.5033-18A>C)
c.3779-18A>C (n.3779-18A>C)
 dbSNP
16g.2088030A>GCA021636TSC2c.*3418-18A>G (n.*3418-18A>G)
c.4916-18A>G (n.4916-18A>G)
c.5066-18A>G (n.5066-18A>G)
c.*5582-18A>G (n.*5582-18A>G)
c.*7818-18A>G (n.*7818-18A>G)
c.5069-18A>G (n.5069-18A>G)
c.5000-18A>G (n.5000-18A>G)
c.4868-18A>G (n.4868-18A>G)
c.4901-18A>G (n.4901-18A>G)
c.1292-18A>G
n.2951-18A>G
c.3723-18A>G
c.4940-18A>G (n.4940-18A>G)
n.666-18A>G
c.4871-18A>G (n.4871-18A>G)
c.4937-18A>G (n.4937-18A>G)
c.4862-18A>G (n.4862-18A>G)
n.1171A>G
n.2717-18A>G
c.4994-18A>G (n.4994-18A>G)
n.639A>G
c.4865-18A>G (n.4865-18A>G)
c.4990-18A>G
n.3153-18A>G
c.5063-18A>G (n.5063-18A>G)
n.3884-18A>G
n.2321-18A>G
n.2292-18A>G
n.2182-18A>G
c.4724-18A>G (n.4724-18A>G)
c.*4236-18A>G (n.*4236-18A>G)
c.4760-18A>G (n.4760-18A>G)
n.2792-18A>G
c.1251-18A>G
n.2184-18A>G
c.5123-18A>G (n.5123-18A>G)
c.5120-18A>G (n.5120-18A>G)
c.5012-18A>G (n.5012-18A>G)
c.4991-18A>G (n.4991-18A>G)
c.4337-18A>G (n.4337-18A>G)
c.5285-18A>G (n.5285-18A>G)
c.5033-18A>G (n.5033-18A>G)
c.3779-18A>G (n.3779-18A>G)
 ClinVar dbSNP
16g.2088030A>TCA2731567133TSC2c.*3418-18A>T (n.*3418-18A>T)
c.4916-18A>T (n.4916-18A>T)
c.5066-18A>T (n.5066-18A>T)
c.*5582-18A>T (n.*5582-18A>T)
c.*7818-18A>T (n.*7818-18A>T)
c.5069-18A>T (n.5069-18A>T)
c.5000-18A>T (n.5000-18A>T)
c.4868-18A>T (n.4868-18A>T)
c.4901-18A>T (n.4901-18A>T)
c.1292-18A>T
n.2951-18A>T
c.3723-18A>T
c.4940-18A>T (n.4940-18A>T)
n.666-18A>T
c.4871-18A>T (n.4871-18A>T)
c.4937-18A>T (n.4937-18A>T)
c.4862-18A>T (n.4862-18A>T)
n.1171A>T
n.2717-18A>T
c.4994-18A>T (n.4994-18A>T)
n.639A>T
c.4865-18A>T (n.4865-18A>T)
c.4990-18A>T
n.3153-18A>T
c.5063-18A>T (n.5063-18A>T)
n.3884-18A>T
n.2321-18A>T
n.2292-18A>T
n.2182-18A>T
c.4724-18A>T (n.4724-18A>T)
c.*4236-18A>T (n.*4236-18A>T)
c.4760-18A>T (n.4760-18A>T)
n.2792-18A>T
c.1251-18A>T
n.2184-18A>T
c.5123-18A>T (n.5123-18A>T)
c.5120-18A>T (n.5120-18A>T)
c.5012-18A>T (n.5012-18A>T)
c.4991-18A>T (n.4991-18A>T)
c.4337-18A>T (n.4337-18A>T)
c.5285-18A>T (n.5285-18A>T)
c.5033-18A>T (n.5033-18A>T)
c.3779-18A>T (n.3779-18A>T)
 dbSNP
16g.2088034_2088036delCA264402TSC2c.*3418-14_*3418-12del (n.*3418-14_*3418-12del)
c.4916-14_4916-12del (n.4916-14_4916-12del)
c.5066-14_5066-12del (n.5066-14_5066-12del)
c.*5582-14_*5582-12del (n.*5582-14_*5582-12del)
c.*7818-14_*7818-12del (n.*7818-14_*7818-12del)
c.5069-14_5069-12del (n.5069-14_5069-12del)
c.5000-14_5000-12del (n.5000-14_5000-12del)
c.4868-14_4868-12del (n.4868-14_4868-12del)
c.4901-14_4901-12del (n.4901-14_4901-12del)
c.1292-14_1292-12del
n.2951-14_2951-12del
c.3723-14_3723-12del
c.4940-14_4940-12del (n.4940-14_4940-12del)
n.666-14_666-12del
c.4871-14_4871-12del (n.4871-14_4871-12del)
c.4937-14_4937-12del (n.4937-14_4937-12del)
c.4862-14_4862-12del (n.4862-14_4862-12del)
n.1175_1177del
n.2717-14_2717-12del
c.4994-14_4994-12del (n.4994-14_4994-12del)
n.643_645del
c.4865-14_4865-12del (n.4865-14_4865-12del)
c.4990-14_4990-12del
n.3153-14_3153-12del
c.5063-14_5063-12del (n.5063-14_5063-12del)
n.3884-14_3884-12del
n.2321-14_2321-12del
n.2292-14_2292-12del
n.2182-14_2182-12del
c.4724-14_4724-12del (n.4724-14_4724-12del)
c.*4236-14_*4236-12del (n.*4236-14_*4236-12del)
c.4760-14_4760-12del (n.4760-14_4760-12del)
n.2792-14_2792-12del
c.1251-14_1251-12del
n.2184-14_2184-12del
c.5123-14_5123-12del (n.5123-14_5123-12del)
c.5120-14_5120-12del (n.5120-14_5120-12del)
c.5012-14_5012-12del (n.5012-14_5012-12del)
c.4991-14_4991-12del (n.4991-14_4991-12del)
c.4337-14_4337-12del (n.4337-14_4337-12del)
c.5285-14_5285-12del (n.5285-14_5285-12del)
c.5033-14_5033-12del (n.5033-14_5033-12del)
c.3779-14_3779-12del (n.3779-14_3779-12del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088031C>ACA2731662036TSC2c.*3418-17C>A (n.*3418-17C>A)
c.4916-17C>A (n.4916-17C>A)
c.5066-17C>A (n.5066-17C>A)
c.*5582-17C>A (n.*5582-17C>A)
c.*7818-17C>A (n.*7818-17C>A)
c.5069-17C>A (n.5069-17C>A)
c.5000-17C>A (n.5000-17C>A)
c.4868-17C>A (n.4868-17C>A)
c.4901-17C>A (n.4901-17C>A)
c.1292-17C>A
n.2951-17C>A
c.3723-17C>A
c.4940-17C>A (n.4940-17C>A)
n.666-17C>A
c.4871-17C>A (n.4871-17C>A)
c.4937-17C>A (n.4937-17C>A)
c.4862-17C>A (n.4862-17C>A)
n.1172C>A
n.2717-17C>A
c.4994-17C>A (n.4994-17C>A)
n.640C>A
c.4865-17C>A (n.4865-17C>A)
c.4990-17C>A
n.3153-17C>A
c.5063-17C>A (n.5063-17C>A)
n.3884-17C>A
n.2321-17C>A
n.2292-17C>A
n.2182-17C>A
c.4724-17C>A (n.4724-17C>A)
c.*4236-17C>A (n.*4236-17C>A)
c.4760-17C>A (n.4760-17C>A)
n.2792-17C>A
c.1251-17C>A
n.2184-17C>A
c.5123-17C>A (n.5123-17C>A)
c.5120-17C>A (n.5120-17C>A)
c.5012-17C>A (n.5012-17C>A)
c.4991-17C>A (n.4991-17C>A)
c.4337-17C>A (n.4337-17C>A)
c.5285-17C>A (n.5285-17C>A)
c.5033-17C>A (n.5033-17C>A)
c.3779-17C>A (n.3779-17C>A)
 dbSNP
16g.2088031C=CA2202030123TSC2c.*3418-17C= (n.*3418-17C=)
c.4916-17C= (n.4916-17C=)
c.5066-17C= (n.5066-17C=)
c.*5582-17C= (n.*5582-17C=)
c.*7818-17C= (n.*7818-17C=)
c.5069-17C= (n.5069-17C=)
c.5000-17C= (n.5000-17C=)
c.4868-17C= (n.4868-17C=)
c.4901-17C= (n.4901-17C=)
c.1292-17C=
n.2951-17C=
c.3723-17C=
c.4940-17C= (n.4940-17C=)
n.666-17C=
c.4871-17C= (n.4871-17C=)
c.4937-17C= (n.4937-17C=)
c.4862-17C= (n.4862-17C=)
n.1172C=
n.2717-17C=
c.4994-17C= (n.4994-17C=)
n.640C=
c.4865-17C= (n.4865-17C=)
c.4990-17C=
n.3153-17C=
c.5063-17C= (n.5063-17C=)
n.3884-17C=
n.2321-17C=
n.2292-17C=
n.2182-17C=
c.4724-17C= (n.4724-17C=)
c.*4236-17C= (n.*4236-17C=)
c.4760-17C= (n.4760-17C=)
n.2792-17C=
c.1251-17C=
n.2184-17C=
c.5123-17C= (n.5123-17C=)
c.5120-17C= (n.5120-17C=)
c.5012-17C= (n.5012-17C=)
c.4991-17C= (n.4991-17C=)
c.4337-17C= (n.4337-17C=)
c.5285-17C= (n.5285-17C=)
c.5033-17C= (n.5033-17C=)
c.3779-17C= (n.3779-17C=)
16g.2088031C>GCA2731662037TSC2c.*3418-17C>G (n.*3418-17C>G)
c.4916-17C>G (n.4916-17C>G)
c.5066-17C>G (n.5066-17C>G)
c.*5582-17C>G (n.*5582-17C>G)
c.*7818-17C>G (n.*7818-17C>G)
c.5069-17C>G (n.5069-17C>G)
c.5000-17C>G (n.5000-17C>G)
c.4868-17C>G (n.4868-17C>G)
c.4901-17C>G (n.4901-17C>G)
c.1292-17C>G
n.2951-17C>G
c.3723-17C>G
c.4940-17C>G (n.4940-17C>G)
n.666-17C>G
c.4871-17C>G (n.4871-17C>G)
c.4937-17C>G (n.4937-17C>G)
c.4862-17C>G (n.4862-17C>G)
n.1172C>G
n.2717-17C>G
c.4994-17C>G (n.4994-17C>G)
n.640C>G
c.4865-17C>G (n.4865-17C>G)
c.4990-17C>G
n.3153-17C>G
c.5063-17C>G (n.5063-17C>G)
n.3884-17C>G
n.2321-17C>G
n.2292-17C>G
n.2182-17C>G
c.4724-17C>G (n.4724-17C>G)
c.*4236-17C>G (n.*4236-17C>G)
c.4760-17C>G (n.4760-17C>G)
n.2792-17C>G
c.1251-17C>G
n.2184-17C>G
c.5123-17C>G (n.5123-17C>G)
c.5120-17C>G (n.5120-17C>G)
c.5012-17C>G (n.5012-17C>G)
c.4991-17C>G (n.4991-17C>G)
c.4337-17C>G (n.4337-17C>G)
c.5285-17C>G (n.5285-17C>G)
c.5033-17C>G (n.5033-17C>G)
c.3779-17C>G (n.3779-17C>G)
 dbSNP
16g.2088031C>TCA2202030124TSC2c.*3418-17C>T (n.*3418-17C>T)
c.4916-17C>T (n.4916-17C>T)
c.5066-17C>T (n.5066-17C>T)
c.*5582-17C>T (n.*5582-17C>T)
c.*7818-17C>T (n.*7818-17C>T)
c.5069-17C>T (n.5069-17C>T)
c.5000-17C>T (n.5000-17C>T)
c.4868-17C>T (n.4868-17C>T)
c.4901-17C>T (n.4901-17C>T)
c.1292-17C>T
n.2951-17C>T
c.3723-17C>T
c.4940-17C>T (n.4940-17C>T)
n.666-17C>T
c.4871-17C>T (n.4871-17C>T)
c.4937-17C>T (n.4937-17C>T)
c.4862-17C>T (n.4862-17C>T)
n.1172C>T
n.2717-17C>T
c.4994-17C>T (n.4994-17C>T)
n.640C>T
c.4865-17C>T (n.4865-17C>T)
c.4990-17C>T
n.3153-17C>T
c.5063-17C>T (n.5063-17C>T)
n.3884-17C>T
n.2321-17C>T
n.2292-17C>T
n.2182-17C>T
c.4724-17C>T (n.4724-17C>T)
c.*4236-17C>T (n.*4236-17C>T)
c.4760-17C>T (n.4760-17C>T)
n.2792-17C>T
c.1251-17C>T
n.2184-17C>T
c.5123-17C>T (n.5123-17C>T)
c.5120-17C>T (n.5120-17C>T)
c.5012-17C>T (n.5012-17C>T)
c.4991-17C>T (n.4991-17C>T)
c.4337-17C>T (n.4337-17C>T)
c.5285-17C>T (n.5285-17C>T)
c.5033-17C>T (n.5033-17C>T)
c.3779-17C>T (n.3779-17C>T)
 ClinVar dbSNP gnomAD v4
16g.2088032C>ACA2731845361TSC2c.*3418-16C>A (n.*3418-16C>A)
c.4916-16C>A (n.4916-16C>A)
c.5066-16C>A (n.5066-16C>A)
c.*5582-16C>A (n.*5582-16C>A)
c.*7818-16C>A (n.*7818-16C>A)
c.5069-16C>A (n.5069-16C>A)
c.5000-16C>A (n.5000-16C>A)
c.4868-16C>A (n.4868-16C>A)
c.4901-16C>A (n.4901-16C>A)
c.1292-16C>A
n.2951-16C>A
c.3723-16C>A
c.4940-16C>A (n.4940-16C>A)
n.666-16C>A
c.4871-16C>A (n.4871-16C>A)
c.4937-16C>A (n.4937-16C>A)
c.4862-16C>A (n.4862-16C>A)
n.1173C>A
n.2717-16C>A
c.4994-16C>A (n.4994-16C>A)
n.641C>A
c.4865-16C>A (n.4865-16C>A)
c.4990-16C>A
n.3153-16C>A
c.5063-16C>A (n.5063-16C>A)
n.3884-16C>A
n.2321-16C>A
n.2292-16C>A
n.2182-16C>A
c.4724-16C>A (n.4724-16C>A)
c.*4236-16C>A (n.*4236-16C>A)
c.4760-16C>A (n.4760-16C>A)
n.2792-16C>A
c.1251-16C>A
n.2184-16C>A
c.5123-16C>A (n.5123-16C>A)
c.5120-16C>A (n.5120-16C>A)
c.5012-16C>A (n.5012-16C>A)
c.4991-16C>A (n.4991-16C>A)
c.4337-16C>A (n.4337-16C>A)
c.5285-16C>A (n.5285-16C>A)
c.5033-16C>A (n.5033-16C>A)
c.3779-16C>A (n.3779-16C>A)
 dbSNP
16g.2088032C>GCA2731845394TSC2c.*3418-16C>G (n.*3418-16C>G)
c.4916-16C>G (n.4916-16C>G)
c.5066-16C>G (n.5066-16C>G)
c.*5582-16C>G (n.*5582-16C>G)
c.*7818-16C>G (n.*7818-16C>G)
c.5069-16C>G (n.5069-16C>G)
c.5000-16C>G (n.5000-16C>G)
c.4868-16C>G (n.4868-16C>G)
c.4901-16C>G (n.4901-16C>G)
c.1292-16C>G
n.2951-16C>G
c.3723-16C>G
c.4940-16C>G (n.4940-16C>G)
n.666-16C>G
c.4871-16C>G (n.4871-16C>G)
c.4937-16C>G (n.4937-16C>G)
c.4862-16C>G (n.4862-16C>G)
n.1173C>G
n.2717-16C>G
c.4994-16C>G (n.4994-16C>G)
n.641C>G
c.4865-16C>G (n.4865-16C>G)
c.4990-16C>G
n.3153-16C>G
c.5063-16C>G (n.5063-16C>G)
n.3884-16C>G
n.2321-16C>G
n.2292-16C>G
n.2182-16C>G
c.4724-16C>G (n.4724-16C>G)
c.*4236-16C>G (n.*4236-16C>G)
c.4760-16C>G (n.4760-16C>G)
n.2792-16C>G
c.1251-16C>G
n.2184-16C>G
c.5123-16C>G (n.5123-16C>G)
c.5120-16C>G (n.5120-16C>G)
c.5012-16C>G (n.5012-16C>G)
c.4991-16C>G (n.4991-16C>G)
c.4337-16C>G (n.4337-16C>G)
c.5285-16C>G (n.5285-16C>G)
c.5033-16C>G (n.5033-16C>G)
c.3779-16C>G (n.3779-16C>G)
 dbSNP
16g.2088032C>TCA2731845503TSC2c.*3418-16C>T (n.*3418-16C>T)
c.4916-16C>T (n.4916-16C>T)
c.5066-16C>T (n.5066-16C>T)
c.*5582-16C>T (n.*5582-16C>T)
c.*7818-16C>T (n.*7818-16C>T)
c.5069-16C>T (n.5069-16C>T)
c.5000-16C>T (n.5000-16C>T)
c.4868-16C>T (n.4868-16C>T)
c.4901-16C>T (n.4901-16C>T)
c.1292-16C>T
n.2951-16C>T
c.3723-16C>T
c.4940-16C>T (n.4940-16C>T)
n.666-16C>T
c.4871-16C>T (n.4871-16C>T)
c.4937-16C>T (n.4937-16C>T)
c.4862-16C>T (n.4862-16C>T)
n.1173C>T
n.2717-16C>T
c.4994-16C>T (n.4994-16C>T)
n.641C>T
c.4865-16C>T (n.4865-16C>T)
c.4990-16C>T
n.3153-16C>T
c.5063-16C>T (n.5063-16C>T)
n.3884-16C>T
n.2321-16C>T
n.2292-16C>T
n.2182-16C>T
c.4724-16C>T (n.4724-16C>T)
c.*4236-16C>T (n.*4236-16C>T)
c.4760-16C>T (n.4760-16C>T)
n.2792-16C>T
c.1251-16C>T
n.2184-16C>T
c.5123-16C>T (n.5123-16C>T)
c.5120-16C>T (n.5120-16C>T)
c.5012-16C>T (n.5012-16C>T)
c.4991-16C>T (n.4991-16C>T)
c.4337-16C>T (n.4337-16C>T)
c.5285-16C>T (n.5285-16C>T)
c.5033-16C>T (n.5033-16C>T)
c.3779-16C>T (n.3779-16C>T)
 ClinVar dbSNP
16g.2088032_2088036delinsCACCACA2202030128TSC2c.*3418-16_*3418-12delinsCACCA (n.*3418-16_*3418-12delinsCACCA)
c.4916-16_4916-12delinsCACCA (n.4916-16_4916-12delinsCACCA)
c.5066-16_5066-12delinsCACCA (n.5066-16_5066-12delinsCACCA)
c.*5582-16_*5582-12delinsCACCA (n.*5582-16_*5582-12delinsCACCA)
c.*7818-16_*7818-12delinsCACCA (n.*7818-16_*7818-12delinsCACCA)
c.5069-16_5069-12delinsCACCA (n.5069-16_5069-12delinsCACCA)
c.5000-16_5000-12delinsCACCA (n.5000-16_5000-12delinsCACCA)
c.4868-16_4868-12delinsCACCA (n.4868-16_4868-12delinsCACCA)
c.4901-16_4901-12delinsCACCA (n.4901-16_4901-12delinsCACCA)
c.1292-16_1292-12delinsCACCA
n.2951-16_2951-12delinsCACCA
c.3723-16_3723-12delinsCACCA
c.4940-16_4940-12delinsCACCA (n.4940-16_4940-12delinsCACCA)
n.666-16_666-12delinsCACCA
c.4871-16_4871-12delinsCACCA (n.4871-16_4871-12delinsCACCA)
c.4937-16_4937-12delinsCACCA (n.4937-16_4937-12delinsCACCA)
c.4862-16_4862-12delinsCACCA (n.4862-16_4862-12delinsCACCA)
n.1173_1177delinsCACCA
n.2717-16_2717-12delinsCACCA
c.4994-16_4994-12delinsCACCA (n.4994-16_4994-12delinsCACCA)
n.641_645delinsCACCA
c.4865-16_4865-12delinsCACCA (n.4865-16_4865-12delinsCACCA)
c.4990-16_4990-12delinsCACCA
n.3153-16_3153-12delinsCACCA
c.5063-16_5063-12delinsCACCA (n.5063-16_5063-12delinsCACCA)
n.3884-16_3884-12delinsCACCA
n.2321-16_2321-12delinsCACCA
n.2292-16_2292-12delinsCACCA
n.2182-16_2182-12delinsCACCA
c.4724-16_4724-12delinsCACCA (n.4724-16_4724-12delinsCACCA)
c.*4236-16_*4236-12delinsCACCA (n.*4236-16_*4236-12delinsCACCA)
c.4760-16_4760-12delinsCACCA (n.4760-16_4760-12delinsCACCA)
n.2792-16_2792-12delinsCACCA
c.1251-16_1251-12delinsCACCA
n.2184-16_2184-12delinsCACCA
c.5123-16_5123-12delinsCACCA (n.5123-16_5123-12delinsCACCA)
c.5120-16_5120-12delinsCACCA (n.5120-16_5120-12delinsCACCA)
c.5012-16_5012-12delinsCACCA (n.5012-16_5012-12delinsCACCA)
c.4991-16_4991-12delinsCACCA (n.4991-16_4991-12delinsCACCA)
c.4337-16_4337-12delinsCACCA (n.4337-16_4337-12delinsCACCA)
c.5285-16_5285-12delinsCACCA (n.5285-16_5285-12delinsCACCA)
c.5033-16_5033-12delinsCACCA (n.5033-16_5033-12delinsCACCA)
c.3779-16_3779-12delinsCACCA (n.3779-16_3779-12delinsCACCA)
16g.2088033A>CCA2731845511TSC2c.*3418-15A>C (n.*3418-15A>C)
c.4916-15A>C (n.4916-15A>C)
c.5066-15A>C (n.5066-15A>C)
c.*5582-15A>C (n.*5582-15A>C)
c.*7818-15A>C (n.*7818-15A>C)
c.5069-15A>C (n.5069-15A>C)
c.5000-15A>C (n.5000-15A>C)
c.4868-15A>C (n.4868-15A>C)
c.4901-15A>C (n.4901-15A>C)
c.1292-15A>C
n.2951-15A>C
c.3723-15A>C
c.4940-15A>C (n.4940-15A>C)
n.666-15A>C
c.4871-15A>C (n.4871-15A>C)
c.4937-15A>C (n.4937-15A>C)
c.4862-15A>C (n.4862-15A>C)
n.1174A>C
n.2717-15A>C
c.4994-15A>C (n.4994-15A>C)
n.642A>C
c.4865-15A>C (n.4865-15A>C)
c.4990-15A>C
n.3153-15A>C
c.5063-15A>C (n.5063-15A>C)
n.3884-15A>C
n.2321-15A>C
n.2292-15A>C
n.2182-15A>C
c.4724-15A>C (n.4724-15A>C)
c.*4236-15A>C (n.*4236-15A>C)
c.4760-15A>C (n.4760-15A>C)
n.2792-15A>C
c.1251-15A>C
n.2184-15A>C
c.5123-15A>C (n.5123-15A>C)
c.5120-15A>C (n.5120-15A>C)
c.5012-15A>C (n.5012-15A>C)
c.4991-15A>C (n.4991-15A>C)
c.4337-15A>C (n.4337-15A>C)
c.5285-15A>C (n.5285-15A>C)
c.5033-15A>C (n.5033-15A>C)
c.3779-15A>C (n.3779-15A>C)
 dbSNP
16g.2088033A>TCA2731845512TSC2c.*3418-15A>T (n.*3418-15A>T)
c.4916-15A>T (n.4916-15A>T)
c.5066-15A>T (n.5066-15A>T)
c.*5582-15A>T (n.*5582-15A>T)
c.*7818-15A>T (n.*7818-15A>T)
c.5069-15A>T (n.5069-15A>T)
c.5000-15A>T (n.5000-15A>T)
c.4868-15A>T (n.4868-15A>T)
c.4901-15A>T (n.4901-15A>T)
c.1292-15A>T
n.2951-15A>T
c.3723-15A>T
c.4940-15A>T (n.4940-15A>T)
n.666-15A>T
c.4871-15A>T (n.4871-15A>T)
c.4937-15A>T (n.4937-15A>T)
c.4862-15A>T (n.4862-15A>T)
n.1174A>T
n.2717-15A>T
c.4994-15A>T (n.4994-15A>T)
n.642A>T
c.4865-15A>T (n.4865-15A>T)
c.4990-15A>T
n.3153-15A>T
c.5063-15A>T (n.5063-15A>T)
n.3884-15A>T
n.2321-15A>T
n.2292-15A>T
n.2182-15A>T
c.4724-15A>T (n.4724-15A>T)
c.*4236-15A>T (n.*4236-15A>T)
c.4760-15A>T (n.4760-15A>T)
n.2792-15A>T
c.1251-15A>T
n.2184-15A>T
c.5123-15A>T (n.5123-15A>T)
c.5120-15A>T (n.5120-15A>T)
c.5012-15A>T (n.5012-15A>T)
c.4991-15A>T (n.4991-15A>T)
c.4337-15A>T (n.4337-15A>T)
c.5285-15A>T (n.5285-15A>T)
c.5033-15A>T (n.5033-15A>T)
c.3779-15A>T (n.3779-15A>T)
 dbSNP
16g.2088033_2088035delinsACCCA2202030135TSC2c.*3418-15_*3418-13delinsACC (n.*3418-15_*3418-13delinsACC)
c.4916-15_4916-13delinsACC (n.4916-15_4916-13delinsACC)
c.5066-15_5066-13delinsACC (n.5066-15_5066-13delinsACC)
c.*5582-15_*5582-13delinsACC (n.*5582-15_*5582-13delinsACC)
c.*7818-15_*7818-13delinsACC (n.*7818-15_*7818-13delinsACC)
c.5069-15_5069-13delinsACC (n.5069-15_5069-13delinsACC)
c.5000-15_5000-13delinsACC (n.5000-15_5000-13delinsACC)
c.4868-15_4868-13delinsACC (n.4868-15_4868-13delinsACC)
c.4901-15_4901-13delinsACC (n.4901-15_4901-13delinsACC)
c.1292-15_1292-13delinsACC
n.2951-15_2951-13delinsACC
c.3723-15_3723-13delinsACC
c.4940-15_4940-13delinsACC (n.4940-15_4940-13delinsACC)
n.666-15_666-13delinsACC
c.4871-15_4871-13delinsACC (n.4871-15_4871-13delinsACC)
c.4937-15_4937-13delinsACC (n.4937-15_4937-13delinsACC)
c.4862-15_4862-13delinsACC (n.4862-15_4862-13delinsACC)
n.1174_1176delinsACC
n.2717-15_2717-13delinsACC
c.4994-15_4994-13delinsACC (n.4994-15_4994-13delinsACC)
n.642_644delinsACC
c.4865-15_4865-13delinsACC (n.4865-15_4865-13delinsACC)
c.4990-15_4990-13delinsACC
n.3153-15_3153-13delinsACC
c.5063-15_5063-13delinsACC (n.5063-15_5063-13delinsACC)
n.3884-15_3884-13delinsACC
n.2321-15_2321-13delinsACC
n.2292-15_2292-13delinsACC
n.2182-15_2182-13delinsACC
c.4724-15_4724-13delinsACC (n.4724-15_4724-13delinsACC)
c.*4236-15_*4236-13delinsACC (n.*4236-15_*4236-13delinsACC)
c.4760-15_4760-13delinsACC (n.4760-15_4760-13delinsACC)
n.2792-15_2792-13delinsACC
c.1251-15_1251-13delinsACC
n.2184-15_2184-13delinsACC
c.5123-15_5123-13delinsACC (n.5123-15_5123-13delinsACC)
c.5120-15_5120-13delinsACC (n.5120-15_5120-13delinsACC)
c.5012-15_5012-13delinsACC (n.5012-15_5012-13delinsACC)
c.4991-15_4991-13delinsACC (n.4991-15_4991-13delinsACC)
c.4337-15_4337-13delinsACC (n.4337-15_4337-13delinsACC)
c.5285-15_5285-13delinsACC (n.5285-15_5285-13delinsACC)
c.5033-15_5033-13delinsACC (n.5033-15_5033-13delinsACC)
c.3779-15_3779-13delinsACC (n.3779-15_3779-13delinsACC)
16g.2088034_2088037delCA053772TSC2c.*3418-14_*3418-11del (n.*3418-14_*3418-11del)
c.4916-14_4916-11del (n.4916-14_4916-11del)
c.5066-14_5066-11del (n.5066-14_5066-11del)
c.*5582-14_*5582-11del (n.*5582-14_*5582-11del)
c.*7818-14_*7818-11del (n.*7818-14_*7818-11del)
c.5069-14_5069-11del (n.5069-14_5069-11del)
c.5000-14_5000-11del (n.5000-14_5000-11del)
c.4868-14_4868-11del (n.4868-14_4868-11del)
c.4901-14_4901-11del (n.4901-14_4901-11del)
c.1292-14_1292-11del
n.2951-14_2951-11del
c.3723-14_3723-11del
c.4940-14_4940-11del (n.4940-14_4940-11del)
n.666-14_666-11del
c.4871-14_4871-11del (n.4871-14_4871-11del)
c.4937-14_4937-11del (n.4937-14_4937-11del)
c.4862-14_4862-11del (n.4862-14_4862-11del)
n.1175_1178del
n.2717-14_2717-11del
c.4994-14_4994-11del (n.4994-14_4994-11del)
n.643_646del
c.4865-14_4865-11del (n.4865-14_4865-11del)
c.4990-14_4990-11del
n.3153-14_3153-11del
c.5063-14_5063-11del (n.5063-14_5063-11del)
n.3884-14_3884-11del
n.2321-14_2321-11del
n.2292-14_2292-11del
n.2182-14_2182-11del
c.4724-14_4724-11del (n.4724-14_4724-11del)
c.*4236-14_*4236-11del (n.*4236-14_*4236-11del)
c.4760-14_4760-11del (n.4760-14_4760-11del)
n.2792-14_2792-11del
c.1251-14_1251-11del
n.2184-14_2184-11del
c.5123-14_5123-11del (n.5123-14_5123-11del)
c.5120-14_5120-11del (n.5120-14_5120-11del)
c.5012-14_5012-11del (n.5012-14_5012-11del)
c.4991-14_4991-11del (n.4991-14_4991-11del)
c.4337-14_4337-11del (n.4337-14_4337-11del)
c.5285-14_5285-11del (n.5285-14_5285-11del)
c.5033-14_5033-11del (n.5033-14_5033-11del)
c.3779-14_3779-11del (n.3779-14_3779-11del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088034C>ACA2580091144TSC2c.*3418-14C>A (n.*3418-14C>A)
c.4916-14C>A (n.4916-14C>A)
c.5066-14C>A (n.5066-14C>A)
c.*5582-14C>A (n.*5582-14C>A)
c.*7818-14C>A (n.*7818-14C>A)
c.5069-14C>A (n.5069-14C>A)
c.5000-14C>A (n.5000-14C>A)
c.4868-14C>A (n.4868-14C>A)
c.4901-14C>A (n.4901-14C>A)
c.1292-14C>A
n.2951-14C>A
c.3723-14C>A
c.4940-14C>A (n.4940-14C>A)
n.666-14C>A
c.4871-14C>A (n.4871-14C>A)
c.4937-14C>A (n.4937-14C>A)
c.4862-14C>A (n.4862-14C>A)
n.1175C>A
n.2717-14C>A
c.4994-14C>A (n.4994-14C>A)
n.643C>A
c.4865-14C>A (n.4865-14C>A)
c.4990-14C>A
n.3153-14C>A
c.5063-14C>A (n.5063-14C>A)
n.3884-14C>A
n.2321-14C>A
n.2292-14C>A
n.2182-14C>A
c.4724-14C>A (n.4724-14C>A)
c.*4236-14C>A (n.*4236-14C>A)
c.4760-14C>A (n.4760-14C>A)
n.2792-14C>A
c.1251-14C>A
n.2184-14C>A
c.5123-14C>A (n.5123-14C>A)
c.5120-14C>A (n.5120-14C>A)
c.5012-14C>A (n.5012-14C>A)
c.4991-14C>A (n.4991-14C>A)
c.4337-14C>A (n.4337-14C>A)
c.5285-14C>A (n.5285-14C>A)
c.5033-14C>A (n.5033-14C>A)
c.3779-14C>A (n.3779-14C>A)
 ClinVar dbSNP
16g.2088034C=CA2202030144TSC2c.*3418-14C= (n.*3418-14C=)
c.4916-14C= (n.4916-14C=)
c.5066-14C= (n.5066-14C=)
c.*5582-14C= (n.*5582-14C=)
c.*7818-14C= (n.*7818-14C=)
c.5069-14C= (n.5069-14C=)
c.5000-14C= (n.5000-14C=)
c.4868-14C= (n.4868-14C=)
c.4901-14C= (n.4901-14C=)
c.1292-14C=
n.2951-14C=
c.3723-14C=
c.4940-14C= (n.4940-14C=)
n.666-14C=
c.4871-14C= (n.4871-14C=)
c.4937-14C= (n.4937-14C=)
c.4862-14C= (n.4862-14C=)
n.1175C=
n.2717-14C=
c.4994-14C= (n.4994-14C=)
n.643C=
c.4865-14C= (n.4865-14C=)
c.4990-14C=
n.3153-14C=
c.5063-14C= (n.5063-14C=)
n.3884-14C=
n.2321-14C=
n.2292-14C=
n.2182-14C=
c.4724-14C= (n.4724-14C=)
c.*4236-14C= (n.*4236-14C=)
c.4760-14C= (n.4760-14C=)
n.2792-14C=
c.1251-14C=
n.2184-14C=
c.5123-14C= (n.5123-14C=)
c.5120-14C= (n.5120-14C=)
c.5012-14C= (n.5012-14C=)
c.4991-14C= (n.4991-14C=)
c.4337-14C= (n.4337-14C=)
c.5285-14C= (n.5285-14C=)
c.5033-14C= (n.5033-14C=)
c.3779-14C= (n.3779-14C=)
16g.2088034C>GCA276758783TSC2c.*3418-14C>G (n.*3418-14C>G)
c.4916-14C>G (n.4916-14C>G)
c.5066-14C>G (n.5066-14C>G)
c.*5582-14C>G (n.*5582-14C>G)
c.*7818-14C>G (n.*7818-14C>G)
c.5069-14C>G (n.5069-14C>G)
c.5000-14C>G (n.5000-14C>G)
c.4868-14C>G (n.4868-14C>G)
c.4901-14C>G (n.4901-14C>G)
c.1292-14C>G
n.2951-14C>G
c.3723-14C>G
c.4940-14C>G (n.4940-14C>G)
n.666-14C>G
c.4871-14C>G (n.4871-14C>G)
c.4937-14C>G (n.4937-14C>G)
c.4862-14C>G (n.4862-14C>G)
n.1175C>G
n.2717-14C>G
c.4994-14C>G (n.4994-14C>G)
n.643C>G
c.4865-14C>G (n.4865-14C>G)
c.4990-14C>G
n.3153-14C>G
c.5063-14C>G (n.5063-14C>G)
n.3884-14C>G
n.2321-14C>G
n.2292-14C>G
n.2182-14C>G
c.4724-14C>G (n.4724-14C>G)
c.*4236-14C>G (n.*4236-14C>G)
c.4760-14C>G (n.4760-14C>G)
n.2792-14C>G
c.1251-14C>G
n.2184-14C>G
c.5123-14C>G (n.5123-14C>G)
c.5120-14C>G (n.5120-14C>G)
c.5012-14C>G (n.5012-14C>G)
c.4991-14C>G (n.4991-14C>G)
c.4337-14C>G (n.4337-14C>G)
c.5285-14C>G (n.5285-14C>G)
c.5033-14C>G (n.5033-14C>G)
c.3779-14C>G (n.3779-14C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2088034_2088035delCA620705115TSC2c.*3418-14_*3418-13del (n.*3418-14_*3418-13del)
c.4916-14_4916-13del (n.4916-14_4916-13del)
c.5066-14_5066-13del (n.5066-14_5066-13del)
c.*5582-14_*5582-13del (n.*5582-14_*5582-13del)
c.*7818-14_*7818-13del (n.*7818-14_*7818-13del)
c.5069-14_5069-13del (n.5069-14_5069-13del)
c.5000-14_5000-13del (n.5000-14_5000-13del)
c.4868-14_4868-13del (n.4868-14_4868-13del)
c.4901-14_4901-13del (n.4901-14_4901-13del)
c.1292-14_1292-13del
n.2951-14_2951-13del
c.3723-14_3723-13del
c.4940-14_4940-13del (n.4940-14_4940-13del)
n.666-14_666-13del
c.4871-14_4871-13del (n.4871-14_4871-13del)
c.4937-14_4937-13del (n.4937-14_4937-13del)
c.4862-14_4862-13del (n.4862-14_4862-13del)
n.1175_1176del
n.2717-14_2717-13del
c.4994-14_4994-13del (n.4994-14_4994-13del)
n.643_644del
c.4865-14_4865-13del (n.4865-14_4865-13del)
c.4990-14_4990-13del
n.3153-14_3153-13del
c.5063-14_5063-13del (n.5063-14_5063-13del)
n.3884-14_3884-13del
n.2321-14_2321-13del
n.2292-14_2292-13del
n.2182-14_2182-13del
c.4724-14_4724-13del (n.4724-14_4724-13del)
c.*4236-14_*4236-13del (n.*4236-14_*4236-13del)
c.4760-14_4760-13del (n.4760-14_4760-13del)
n.2792-14_2792-13del
c.1251-14_1251-13del
n.2184-14_2184-13del
c.5123-14_5123-13del (n.5123-14_5123-13del)
c.5120-14_5120-13del (n.5120-14_5120-13del)
c.5012-14_5012-13del (n.5012-14_5012-13del)
c.4991-14_4991-13del (n.4991-14_4991-13del)
c.4337-14_4337-13del (n.4337-14_4337-13del)
c.5285-14_5285-13del (n.5285-14_5285-13del)
c.5033-14_5033-13del (n.5033-14_5033-13del)
c.3779-14_3779-13del (n.3779-14_3779-13del)
 dbSNP gnomAD v2 gnomAD v4
16g.2088035C>ACA2731573108TSC2c.*3418-13C>A (n.*3418-13C>A)
c.4916-13C>A (n.4916-13C>A)
c.5066-13C>A (n.5066-13C>A)
c.*5582-13C>A (n.*5582-13C>A)
c.*7818-13C>A (n.*7818-13C>A)
c.5069-13C>A (n.5069-13C>A)
c.5000-13C>A (n.5000-13C>A)
c.4868-13C>A (n.4868-13C>A)
c.4901-13C>A (n.4901-13C>A)
c.1292-13C>A
n.2951-13C>A
c.3723-13C>A
c.4940-13C>A (n.4940-13C>A)
n.666-13C>A
c.4871-13C>A (n.4871-13C>A)
c.4937-13C>A (n.4937-13C>A)
c.4862-13C>A (n.4862-13C>A)
n.1176C>A
n.2717-13C>A
c.4994-13C>A (n.4994-13C>A)
n.644C>A
c.4865-13C>A (n.4865-13C>A)
c.4990-13C>A
n.3153-13C>A
c.5063-13C>A (n.5063-13C>A)
n.3884-13C>A
n.2321-13C>A
n.2292-13C>A
n.2182-13C>A
c.4724-13C>A (n.4724-13C>A)
c.*4236-13C>A (n.*4236-13C>A)
c.4760-13C>A (n.4760-13C>A)
n.2792-13C>A
c.1251-13C>A
n.2184-13C>A
c.5123-13C>A (n.5123-13C>A)
c.5120-13C>A (n.5120-13C>A)
c.5012-13C>A (n.5012-13C>A)
c.4991-13C>A (n.4991-13C>A)
c.4337-13C>A (n.4337-13C>A)
c.5285-13C>A (n.5285-13C>A)
c.5033-13C>A (n.5033-13C>A)
c.3779-13C>A (n.3779-13C>A)
 dbSNP
16g.2088035C=CA2202030147TSC2c.*3418-13C= (n.*3418-13C=)
c.4916-13C= (n.4916-13C=)
c.5066-13C= (n.5066-13C=)
c.*5582-13C= (n.*5582-13C=)
c.*7818-13C= (n.*7818-13C=)
c.5069-13C= (n.5069-13C=)
c.5000-13C= (n.5000-13C=)
c.4868-13C= (n.4868-13C=)
c.4901-13C= (n.4901-13C=)
c.1292-13C=
n.2951-13C=
c.3723-13C=
c.4940-13C= (n.4940-13C=)
n.666-13C=
c.4871-13C= (n.4871-13C=)
c.4937-13C= (n.4937-13C=)
c.4862-13C= (n.4862-13C=)
n.1176C=
n.2717-13C=
c.4994-13C= (n.4994-13C=)
n.644C=
c.4865-13C= (n.4865-13C=)
c.4990-13C=
n.3153-13C=
c.5063-13C= (n.5063-13C=)
n.3884-13C=
n.2321-13C=
n.2292-13C=
n.2182-13C=
c.4724-13C= (n.4724-13C=)
c.*4236-13C= (n.*4236-13C=)
c.4760-13C= (n.4760-13C=)
n.2792-13C=
c.1251-13C=
n.2184-13C=
c.5123-13C= (n.5123-13C=)
c.5120-13C= (n.5120-13C=)
c.5012-13C= (n.5012-13C=)
c.4991-13C= (n.4991-13C=)
c.4337-13C= (n.4337-13C=)
c.5285-13C= (n.5285-13C=)
c.5033-13C= (n.5033-13C=)
c.3779-13C= (n.3779-13C=)
16g.2088035C>GCA053757TSC2c.*3418-13C>G (n.*3418-13C>G)
c.4916-13C>G (n.4916-13C>G)
c.5066-13C>G (n.5066-13C>G)
c.*5582-13C>G (n.*5582-13C>G)
c.*7818-13C>G (n.*7818-13C>G)
c.5069-13C>G (n.5069-13C>G)
c.5000-13C>G (n.5000-13C>G)
c.4868-13C>G (n.4868-13C>G)
c.4901-13C>G (n.4901-13C>G)
c.1292-13C>G
n.2951-13C>G
c.3723-13C>G
c.4940-13C>G (n.4940-13C>G)
n.666-13C>G
c.4871-13C>G (n.4871-13C>G)
c.4937-13C>G (n.4937-13C>G)
c.4862-13C>G (n.4862-13C>G)
n.1176C>G
n.2717-13C>G
c.4994-13C>G (n.4994-13C>G)
n.644C>G
c.4865-13C>G (n.4865-13C>G)
c.4990-13C>G
n.3153-13C>G
c.5063-13C>G (n.5063-13C>G)
n.3884-13C>G
n.2321-13C>G
n.2292-13C>G
n.2182-13C>G
c.4724-13C>G (n.4724-13C>G)
c.*4236-13C>G (n.*4236-13C>G)
c.4760-13C>G (n.4760-13C>G)
n.2792-13C>G
c.1251-13C>G
n.2184-13C>G
c.5123-13C>G (n.5123-13C>G)
c.5120-13C>G (n.5120-13C>G)
c.5012-13C>G (n.5012-13C>G)
c.4991-13C>G (n.4991-13C>G)
c.4337-13C>G (n.4337-13C>G)
c.5285-13C>G (n.5285-13C>G)
c.5033-13C>G (n.5033-13C>G)
c.3779-13C>G (n.3779-13C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2088035C>TCA053769TSC2c.*3418-13C>T (n.*3418-13C>T)
c.4916-13C>T (n.4916-13C>T)
c.5066-13C>T (n.5066-13C>T)
c.*5582-13C>T (n.*5582-13C>T)
c.*7818-13C>T (n.*7818-13C>T)
c.5069-13C>T (n.5069-13C>T)
c.5000-13C>T (n.5000-13C>T)
c.4868-13C>T (n.4868-13C>T)
c.4901-13C>T (n.4901-13C>T)
c.1292-13C>T
n.2951-13C>T
c.3723-13C>T
c.4940-13C>T (n.4940-13C>T)
n.666-13C>T
c.4871-13C>T (n.4871-13C>T)
c.4937-13C>T (n.4937-13C>T)
c.4862-13C>T (n.4862-13C>T)
n.1176C>T
n.2717-13C>T
c.4994-13C>T (n.4994-13C>T)
n.644C>T
c.4865-13C>T (n.4865-13C>T)
c.4990-13C>T
n.3153-13C>T
c.5063-13C>T (n.5063-13C>T)
n.3884-13C>T
n.2321-13C>T
n.2292-13C>T
n.2182-13C>T
c.4724-13C>T (n.4724-13C>T)
c.*4236-13C>T (n.*4236-13C>T)
c.4760-13C>T (n.4760-13C>T)
n.2792-13C>T
c.1251-13C>T
n.2184-13C>T
c.5123-13C>T (n.5123-13C>T)
c.5120-13C>T (n.5120-13C>T)
c.5012-13C>T (n.5012-13C>T)
c.4991-13C>T (n.4991-13C>T)
c.4337-13C>T (n.4337-13C>T)
c.5285-13C>T (n.5285-13C>T)
c.5033-13C>T (n.5033-13C>T)
c.3779-13C>T (n.3779-13C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088036A=CA2202030152TSC2c.*3418-12A= (n.*3418-12A=)
c.4916-12A= (n.4916-12A=)
c.5066-12A= (n.5066-12A=)
c.*5582-12A= (n.*5582-12A=)
c.*7818-12A= (n.*7818-12A=)
c.5069-12A= (n.5069-12A=)
c.5000-12A= (n.5000-12A=)
c.4868-12A= (n.4868-12A=)
c.4901-12A= (n.4901-12A=)
c.1292-12A=
n.2951-12A=
c.3723-12A=
c.4940-12A= (n.4940-12A=)
n.666-12A=
c.4871-12A= (n.4871-12A=)
c.4937-12A= (n.4937-12A=)
c.4862-12A= (n.4862-12A=)
n.1177A=
n.2717-12A=
c.4994-12A= (n.4994-12A=)
n.645A=
c.4865-12A= (n.4865-12A=)
c.4990-12A=
n.3153-12A=
c.5063-12A= (n.5063-12A=)
n.3884-12A=
n.2321-12A=
n.2292-12A=
n.2182-12A=
c.4724-12A= (n.4724-12A=)
c.*4236-12A= (n.*4236-12A=)
c.4760-12A= (n.4760-12A=)
n.2792-12A=
c.1251-12A=
n.2184-12A=
c.5123-12A= (n.5123-12A=)
c.5120-12A= (n.5120-12A=)
c.5012-12A= (n.5012-12A=)
c.4991-12A= (n.4991-12A=)
c.4337-12A= (n.4337-12A=)
c.5285-12A= (n.5285-12A=)
c.5033-12A= (n.5033-12A=)
c.3779-12A= (n.3779-12A=)
16g.2088036A>GCA718904490TSC2c.*3418-12A>G (n.*3418-12A>G)
c.4916-12A>G (n.4916-12A>G)
c.5066-12A>G (n.5066-12A>G)
c.*5582-12A>G (n.*5582-12A>G)
c.*7818-12A>G (n.*7818-12A>G)
c.5069-12A>G (n.5069-12A>G)
c.5000-12A>G (n.5000-12A>G)
c.4868-12A>G (n.4868-12A>G)
c.4901-12A>G (n.4901-12A>G)
c.1292-12A>G
n.2951-12A>G
c.3723-12A>G
c.4940-12A>G (n.4940-12A>G)
n.666-12A>G
c.4871-12A>G (n.4871-12A>G)
c.4937-12A>G (n.4937-12A>G)
c.4862-12A>G (n.4862-12A>G)
n.1177A>G
n.2717-12A>G
c.4994-12A>G (n.4994-12A>G)
n.645A>G
c.4865-12A>G (n.4865-12A>G)
c.4990-12A>G
n.3153-12A>G
c.5063-12A>G (n.5063-12A>G)
n.3884-12A>G
n.2321-12A>G
n.2292-12A>G
n.2182-12A>G
c.4724-12A>G (n.4724-12A>G)
c.*4236-12A>G (n.*4236-12A>G)
c.4760-12A>G (n.4760-12A>G)
n.2792-12A>G
c.1251-12A>G
n.2184-12A>G
c.5123-12A>G (n.5123-12A>G)
c.5120-12A>G (n.5120-12A>G)
c.5012-12A>G (n.5012-12A>G)
c.4991-12A>G (n.4991-12A>G)
c.4337-12A>G (n.4337-12A>G)
c.5285-12A>G (n.5285-12A>G)
c.5033-12A>G (n.5033-12A>G)
c.3779-12A>G (n.3779-12A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2088037A=CA2202030154TSC2c.*3418-11A= (n.*3418-11A=)
c.4916-11A= (n.4916-11A=)
c.5066-11A= (n.5066-11A=)
c.*5582-11A= (n.*5582-11A=)
c.*7818-11A= (n.*7818-11A=)
c.5069-11A= (n.5069-11A=)
c.5000-11A= (n.5000-11A=)
c.4868-11A= (n.4868-11A=)
c.4901-11A= (n.4901-11A=)
c.1292-11A=
n.2951-11A=
c.3723-11A=
c.4940-11A= (n.4940-11A=)
n.666-11A=
c.4871-11A= (n.4871-11A=)
c.4937-11A= (n.4937-11A=)
c.4862-11A= (n.4862-11A=)
n.1178A=
n.2717-11A=
c.4994-11A= (n.4994-11A=)
n.646A=
c.4865-11A= (n.4865-11A=)
c.4990-11A=
n.3153-11A=
c.5063-11A= (n.5063-11A=)
n.3884-11A=
n.2321-11A=
n.2292-11A=
n.2182-11A=
c.4724-11A= (n.4724-11A=)
c.*4236-11A= (n.*4236-11A=)
c.4760-11A= (n.4760-11A=)
n.2792-11A=
c.1251-11A=
n.2184-11A=
c.5123-11A= (n.5123-11A=)
c.5120-11A= (n.5120-11A=)
c.5012-11A= (n.5012-11A=)
c.4991-11A= (n.4991-11A=)
c.4337-11A= (n.4337-11A=)
c.5285-11A= (n.5285-11A=)
c.5033-11A= (n.5033-11A=)
c.3779-11A= (n.3779-11A=)
16g.2088037A>CCA2580091146TSC2c.*3418-11A>C (n.*3418-11A>C)
c.4916-11A>C (n.4916-11A>C)
c.5066-11A>C (n.5066-11A>C)
c.*5582-11A>C (n.*5582-11A>C)
c.*7818-11A>C (n.*7818-11A>C)
c.5069-11A>C (n.5069-11A>C)
c.5000-11A>C (n.5000-11A>C)
c.4868-11A>C (n.4868-11A>C)
c.4901-11A>C (n.4901-11A>C)
c.1292-11A>C
n.2951-11A>C
c.3723-11A>C
c.4940-11A>C (n.4940-11A>C)
n.666-11A>C
c.4871-11A>C (n.4871-11A>C)
c.4937-11A>C (n.4937-11A>C)
c.4862-11A>C (n.4862-11A>C)
n.1178A>C
n.2717-11A>C
c.4994-11A>C (n.4994-11A>C)
n.646A>C
c.4865-11A>C (n.4865-11A>C)
c.4990-11A>C
n.3153-11A>C
c.5063-11A>C (n.5063-11A>C)
n.3884-11A>C
n.2321-11A>C
n.2292-11A>C
n.2182-11A>C
c.4724-11A>C (n.4724-11A>C)
c.*4236-11A>C (n.*4236-11A>C)
c.4760-11A>C (n.4760-11A>C)
n.2792-11A>C
c.1251-11A>C
n.2184-11A>C
c.5123-11A>C (n.5123-11A>C)
c.5120-11A>C (n.5120-11A>C)
c.5012-11A>C (n.5012-11A>C)
c.4991-11A>C (n.4991-11A>C)
c.4337-11A>C (n.4337-11A>C)
c.5285-11A>C (n.5285-11A>C)
c.5033-11A>C (n.5033-11A>C)
c.3779-11A>C (n.3779-11A>C)
 ClinVar gnomAD v4
16g.2088037A>GCA053750TSC2c.*3418-11A>G (n.*3418-11A>G)
c.4916-11A>G (n.4916-11A>G)
c.5066-11A>G (n.5066-11A>G)
c.*5582-11A>G (n.*5582-11A>G)
c.*7818-11A>G (n.*7818-11A>G)
c.5069-11A>G (n.5069-11A>G)
c.5000-11A>G (n.5000-11A>G)
c.4868-11A>G (n.4868-11A>G)
c.4901-11A>G (n.4901-11A>G)
c.1292-11A>G
n.2951-11A>G
c.3723-11A>G
c.4940-11A>G (n.4940-11A>G)
n.666-11A>G
c.4871-11A>G (n.4871-11A>G)
c.4937-11A>G (n.4937-11A>G)
c.4862-11A>G (n.4862-11A>G)
n.1178A>G
n.2717-11A>G
c.4994-11A>G (n.4994-11A>G)
n.646A>G
c.4865-11A>G (n.4865-11A>G)
c.4990-11A>G
n.3153-11A>G
c.5063-11A>G (n.5063-11A>G)
n.3884-11A>G
n.2321-11A>G
n.2292-11A>G
n.2182-11A>G
c.4724-11A>G (n.4724-11A>G)
c.*4236-11A>G (n.*4236-11A>G)
c.4760-11A>G (n.4760-11A>G)
n.2792-11A>G
c.1251-11A>G
n.2184-11A>G
c.5123-11A>G (n.5123-11A>G)
c.5120-11A>G (n.5120-11A>G)
c.5012-11A>G (n.5012-11A>G)
c.4991-11A>G (n.4991-11A>G)
c.4337-11A>G (n.4337-11A>G)
c.5285-11A>G (n.5285-11A>G)
c.5033-11A>G (n.5033-11A>G)
c.3779-11A>G (n.3779-11A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2088037A>TCA2731574390TSC2c.*3418-11A>T (n.*3418-11A>T)
c.4916-11A>T (n.4916-11A>T)
c.5066-11A>T (n.5066-11A>T)
c.*5582-11A>T (n.*5582-11A>T)
c.*7818-11A>T (n.*7818-11A>T)
c.5069-11A>T (n.5069-11A>T)
c.5000-11A>T (n.5000-11A>T)
c.4868-11A>T (n.4868-11A>T)
c.4901-11A>T (n.4901-11A>T)
c.1292-11A>T
n.2951-11A>T
c.3723-11A>T
c.4940-11A>T (n.4940-11A>T)
n.666-11A>T
c.4871-11A>T (n.4871-11A>T)
c.4937-11A>T (n.4937-11A>T)
c.4862-11A>T (n.4862-11A>T)
n.1178A>T
n.2717-11A>T
c.4994-11A>T (n.4994-11A>T)
n.646A>T
c.4865-11A>T (n.4865-11A>T)
c.4990-11A>T
n.3153-11A>T
c.5063-11A>T (n.5063-11A>T)
n.3884-11A>T
n.2321-11A>T
n.2292-11A>T
n.2182-11A>T
c.4724-11A>T (n.4724-11A>T)
c.*4236-11A>T (n.*4236-11A>T)
c.4760-11A>T (n.4760-11A>T)
n.2792-11A>T
c.1251-11A>T
n.2184-11A>T
c.5123-11A>T (n.5123-11A>T)
c.5120-11A>T (n.5120-11A>T)
c.5012-11A>T (n.5012-11A>T)
c.4991-11A>T (n.4991-11A>T)
c.4337-11A>T (n.4337-11A>T)
c.5285-11A>T (n.5285-11A>T)
c.5033-11A>T (n.5033-11A>T)
c.3779-11A>T (n.3779-11A>T)
 dbSNP
16g.2088038G>ACA2575877205TSC2c.*3418-10G>A (n.*3418-10G>A)
c.4916-10G>A (n.4916-10G>A)
c.5066-10G>A (n.5066-10G>A)
c.*5582-10G>A (n.*5582-10G>A)
c.*7818-10G>A (n.*7818-10G>A)
c.5069-10G>A (n.5069-10G>A)
c.5000-10G>A (n.5000-10G>A)
c.4868-10G>A (n.4868-10G>A)
c.4901-10G>A (n.4901-10G>A)
c.1292-10G>A
n.2951-10G>A
c.3723-10G>A
c.4940-10G>A (n.4940-10G>A)
n.666-10G>A
c.4871-10G>A (n.4871-10G>A)
c.4937-10G>A (n.4937-10G>A)
c.4862-10G>A (n.4862-10G>A)
n.1179G>A
n.2717-10G>A
c.4994-10G>A (n.4994-10G>A)
n.647G>A
c.4865-10G>A (n.4865-10G>A)
c.4990-10G>A
n.3153-10G>A
c.5063-10G>A (n.5063-10G>A)
n.3884-10G>A
n.2321-10G>A
n.2292-10G>A
n.2182-10G>A
c.4724-10G>A (n.4724-10G>A)
c.*4236-10G>A (n.*4236-10G>A)
c.4760-10G>A (n.4760-10G>A)
n.2792-10G>A
c.1251-10G>A
n.2184-10G>A
c.5123-10G>A (n.5123-10G>A)
c.5120-10G>A (n.5120-10G>A)
c.5012-10G>A (n.5012-10G>A)
c.4991-10G>A (n.4991-10G>A)
c.4337-10G>A (n.4337-10G>A)
c.5285-10G>A (n.5285-10G>A)
c.5033-10G>A (n.5033-10G>A)
c.3779-10G>A (n.3779-10G>A)
 ClinVar
16g.2088038G>CCA718904493TSC2c.*3418-10G>C (n.*3418-10G>C)
c.4916-10G>C (n.4916-10G>C)
c.5066-10G>C (n.5066-10G>C)
c.*5582-10G>C (n.*5582-10G>C)
c.*7818-10G>C (n.*7818-10G>C)
c.5069-10G>C (n.5069-10G>C)
c.5000-10G>C (n.5000-10G>C)
c.4868-10G>C (n.4868-10G>C)
c.4901-10G>C (n.4901-10G>C)
c.1292-10G>C
n.2951-10G>C
c.3723-10G>C
c.4940-10G>C (n.4940-10G>C)
n.666-10G>C
c.4871-10G>C (n.4871-10G>C)
c.4937-10G>C (n.4937-10G>C)
c.4862-10G>C (n.4862-10G>C)
n.1179G>C
n.2717-10G>C
c.4994-10G>C (n.4994-10G>C)
n.647G>C
c.4865-10G>C (n.4865-10G>C)
c.4990-10G>C
n.3153-10G>C
c.5063-10G>C (n.5063-10G>C)
n.3884-10G>C
n.2321-10G>C
n.2292-10G>C
n.2182-10G>C
c.4724-10G>C (n.4724-10G>C)
c.*4236-10G>C (n.*4236-10G>C)
c.4760-10G>C (n.4760-10G>C)
n.2792-10G>C
c.1251-10G>C
n.2184-10G>C
c.5123-10G>C (n.5123-10G>C)
c.5120-10G>C (n.5120-10G>C)
c.5012-10G>C (n.5012-10G>C)
c.4991-10G>C (n.4991-10G>C)
c.4337-10G>C (n.4337-10G>C)
c.5285-10G>C (n.5285-10G>C)
c.5033-10G>C (n.5033-10G>C)
c.3779-10G>C (n.3779-10G>C)
 ClinVar dbSNP gnomAD v4
16g.2088038G=CA2202030158TSC2c.*3418-10G= (n.*3418-10G=)
c.4916-10G= (n.4916-10G=)
c.5066-10G= (n.5066-10G=)
c.*5582-10G= (n.*5582-10G=)
c.*7818-10G= (n.*7818-10G=)
c.5069-10G= (n.5069-10G=)
c.5000-10G= (n.5000-10G=)
c.4868-10G= (n.4868-10G=)
c.4901-10G= (n.4901-10G=)
c.1292-10G=
n.2951-10G=
c.3723-10G=
c.4940-10G= (n.4940-10G=)
n.666-10G=
c.4871-10G= (n.4871-10G=)
c.4937-10G= (n.4937-10G=)
c.4862-10G= (n.4862-10G=)
n.1179G=
n.2717-10G=
c.4994-10G= (n.4994-10G=)
n.647G=
c.4865-10G= (n.4865-10G=)
c.4990-10G=
n.3153-10G=
c.5063-10G= (n.5063-10G=)
n.3884-10G=
n.2321-10G=
n.2292-10G=
n.2182-10G=
c.4724-10G= (n.4724-10G=)
c.*4236-10G= (n.*4236-10G=)
c.4760-10G= (n.4760-10G=)
n.2792-10G=
c.1251-10G=
n.2184-10G=
c.5123-10G= (n.5123-10G=)
c.5120-10G= (n.5120-10G=)
c.5012-10G= (n.5012-10G=)
c.4991-10G= (n.4991-10G=)
c.4337-10G= (n.4337-10G=)
c.5285-10G= (n.5285-10G=)
c.5033-10G= (n.5033-10G=)
c.3779-10G= (n.3779-10G=)
16g.2088039T>CCA718904495TSC2c.*3418-9T>C (n.*3418-9T>C)
c.4916-9T>C (n.4916-9T>C)
c.5066-9T>C (n.5066-9T>C)
c.*5582-9T>C (n.*5582-9T>C)
c.*7818-9T>C (n.*7818-9T>C)
c.5069-9T>C (n.5069-9T>C)
c.5000-9T>C (n.5000-9T>C)
c.4868-9T>C (n.4868-9T>C)
c.4901-9T>C (n.4901-9T>C)
c.1292-9T>C
n.2951-9T>C
c.3723-9T>C
c.4940-9T>C (n.4940-9T>C)
n.666-9T>C
c.4871-9T>C (n.4871-9T>C)
c.4937-9T>C (n.4937-9T>C)
c.4862-9T>C (n.4862-9T>C)
n.1180T>C
n.2717-9T>C
c.4994-9T>C (n.4994-9T>C)
n.648T>C
c.4865-9T>C (n.4865-9T>C)
c.4990-9T>C
n.3153-9T>C
c.5063-9T>C (n.5063-9T>C)
n.3884-9T>C
n.2321-9T>C
n.2292-9T>C
n.2182-9T>C
c.4724-9T>C (n.4724-9T>C)
c.*4236-9T>C (n.*4236-9T>C)
c.4760-9T>C (n.4760-9T>C)
n.2792-9T>C
c.1251-9T>C
n.2184-9T>C
c.5123-9T>C (n.5123-9T>C)
c.5120-9T>C (n.5120-9T>C)
c.5012-9T>C (n.5012-9T>C)
c.4991-9T>C (n.4991-9T>C)
c.4337-9T>C (n.4337-9T>C)
c.5285-9T>C (n.5285-9T>C)
c.5033-9T>C (n.5033-9T>C)
c.3779-9T>C (n.3779-9T>C)
 dbSNP
16g.2088039T=CA2202030162TSC2c.*3418-9T= (n.*3418-9T=)
c.4916-9T= (n.4916-9T=)
c.5066-9T= (n.5066-9T=)
c.*5582-9T= (n.*5582-9T=)
c.*7818-9T= (n.*7818-9T=)
c.5069-9T= (n.5069-9T=)
c.5000-9T= (n.5000-9T=)
c.4868-9T= (n.4868-9T=)
c.4901-9T= (n.4901-9T=)
c.1292-9T=
n.2951-9T=
c.3723-9T=
c.4940-9T= (n.4940-9T=)
n.666-9T=
c.4871-9T= (n.4871-9T=)
c.4937-9T= (n.4937-9T=)
c.4862-9T= (n.4862-9T=)
n.1180T=
n.2717-9T=
c.4994-9T= (n.4994-9T=)
n.648T=
c.4865-9T= (n.4865-9T=)
c.4990-9T=
n.3153-9T=
c.5063-9T= (n.5063-9T=)
n.3884-9T=
n.2321-9T=
n.2292-9T=
n.2182-9T=
c.4724-9T= (n.4724-9T=)
c.*4236-9T= (n.*4236-9T=)
c.4760-9T= (n.4760-9T=)
n.2792-9T=
c.1251-9T=
n.2184-9T=
c.5123-9T= (n.5123-9T=)
c.5120-9T= (n.5120-9T=)
c.5012-9T= (n.5012-9T=)
c.4991-9T= (n.4991-9T=)
c.4337-9T= (n.4337-9T=)
c.5285-9T= (n.5285-9T=)
c.5033-9T= (n.5033-9T=)
c.3779-9T= (n.3779-9T=)
16g.2088040C>ACA1139664246TSC2c.*3418-8C>A (n.*3418-8C>A)
c.4916-8C>A (n.4916-8C>A)
c.5066-8C>A (n.5066-8C>A)
c.*5582-8C>A (n.*5582-8C>A)
c.*7818-8C>A (n.*7818-8C>A)
c.5069-8C>A (n.5069-8C>A)
c.5000-8C>A (n.5000-8C>A)
c.4868-8C>A (n.4868-8C>A)
c.4901-8C>A (n.4901-8C>A)
c.1292-8C>A
n.2951-8C>A
c.3723-8C>A
c.4940-8C>A (n.4940-8C>A)
n.666-8C>A
c.4871-8C>A (n.4871-8C>A)
c.4937-8C>A (n.4937-8C>A)
c.4862-8C>A (n.4862-8C>A)
n.1181C>A
n.2717-8C>A
c.4994-8C>A (n.4994-8C>A)
n.649C>A
c.4865-8C>A (n.4865-8C>A)
c.4990-8C>A
n.3153-8C>A
c.5063-8C>A (n.5063-8C>A)
n.3884-8C>A
n.2321-8C>A
n.2292-8C>A
n.2182-8C>A
c.4724-8C>A (n.4724-8C>A)
c.*4236-8C>A (n.*4236-8C>A)
c.4760-8C>A (n.4760-8C>A)
n.2792-8C>A
c.1251-8C>A
n.2184-8C>A
c.5123-8C>A (n.5123-8C>A)
c.5120-8C>A (n.5120-8C>A)
c.5012-8C>A (n.5012-8C>A)
c.4991-8C>A (n.4991-8C>A)
c.4337-8C>A (n.4337-8C>A)
c.5285-8C>A (n.5285-8C>A)
c.5033-8C>A (n.5033-8C>A)
c.3779-8C>A (n.3779-8C>A)
 ClinVar dbSNP
16g.2088040C=CA2202030169TSC2c.*3418-8C= (n.*3418-8C=)
c.4916-8C= (n.4916-8C=)
c.5066-8C= (n.5066-8C=)
c.*5582-8C= (n.*5582-8C=)
c.*7818-8C= (n.*7818-8C=)
c.5069-8C= (n.5069-8C=)
c.5000-8C= (n.5000-8C=)
c.4868-8C= (n.4868-8C=)
c.4901-8C= (n.4901-8C=)
c.1292-8C=
n.2951-8C=
c.3723-8C=
c.4940-8C= (n.4940-8C=)
n.666-8C=
c.4871-8C= (n.4871-8C=)
c.4937-8C= (n.4937-8C=)
c.4862-8C= (n.4862-8C=)
n.1181C=
n.2717-8C=
c.4994-8C= (n.4994-8C=)
n.649C=
c.4865-8C= (n.4865-8C=)
c.4990-8C=
n.3153-8C=
c.5063-8C= (n.5063-8C=)
n.3884-8C=
n.2321-8C=
n.2292-8C=
n.2182-8C=
c.4724-8C= (n.4724-8C=)
c.*4236-8C= (n.*4236-8C=)
c.4760-8C= (n.4760-8C=)
n.2792-8C=
c.1251-8C=
n.2184-8C=
c.5123-8C= (n.5123-8C=)
c.5120-8C= (n.5120-8C=)
c.5012-8C= (n.5012-8C=)
c.4991-8C= (n.4991-8C=)
c.4337-8C= (n.4337-8C=)
c.5285-8C= (n.5285-8C=)
c.5033-8C= (n.5033-8C=)
c.3779-8C= (n.3779-8C=)
16g.2088040C>GCA16614817TSC2c.*3418-8C>G (n.*3418-8C>G)
c.4916-8C>G (n.4916-8C>G)
c.5066-8C>G (n.5066-8C>G)
c.*5582-8C>G (n.*5582-8C>G)
c.*7818-8C>G (n.*7818-8C>G)
c.5069-8C>G (n.5069-8C>G)
c.5000-8C>G (n.5000-8C>G)
c.4868-8C>G (n.4868-8C>G)
c.4901-8C>G (n.4901-8C>G)
c.1292-8C>G
n.2951-8C>G
c.3723-8C>G
c.4940-8C>G (n.4940-8C>G)
n.666-8C>G
c.4871-8C>G (n.4871-8C>G)
c.4937-8C>G (n.4937-8C>G)
c.4862-8C>G (n.4862-8C>G)
n.1181C>G
n.2717-8C>G
c.4994-8C>G (n.4994-8C>G)
n.649C>G
c.4865-8C>G (n.4865-8C>G)
c.4990-8C>G
n.3153-8C>G
c.5063-8C>G (n.5063-8C>G)
n.3884-8C>G
n.2321-8C>G
n.2292-8C>G
n.2182-8C>G
c.4724-8C>G (n.4724-8C>G)
c.*4236-8C>G (n.*4236-8C>G)
c.4760-8C>G (n.4760-8C>G)
n.2792-8C>G
c.1251-8C>G
n.2184-8C>G
c.5123-8C>G (n.5123-8C>G)
c.5120-8C>G (n.5120-8C>G)
c.5012-8C>G (n.5012-8C>G)
c.4991-8C>G (n.4991-8C>G)
c.4337-8C>G (n.4337-8C>G)
c.5285-8C>G (n.5285-8C>G)
c.5033-8C>G (n.5033-8C>G)
c.3779-8C>G (n.3779-8C>G)
 ClinVar dbSNP gnomAD v4
16g.2088040C>TCA319395TSC2c.*3418-8C>T (n.*3418-8C>T)
c.4916-8C>T (n.4916-8C>T)
c.5066-8C>T (n.5066-8C>T)
c.*5582-8C>T (n.*5582-8C>T)
c.*7818-8C>T (n.*7818-8C>T)
c.5069-8C>T (n.5069-8C>T)
c.5000-8C>T (n.5000-8C>T)
c.4868-8C>T (n.4868-8C>T)
c.4901-8C>T (n.4901-8C>T)
c.1292-8C>T
n.2951-8C>T
c.3723-8C>T
c.4940-8C>T (n.4940-8C>T)
n.666-8C>T
c.4871-8C>T (n.4871-8C>T)
c.4937-8C>T (n.4937-8C>T)
c.4862-8C>T (n.4862-8C>T)
n.1181C>T
n.2717-8C>T
c.4994-8C>T (n.4994-8C>T)
n.649C>T
c.4865-8C>T (n.4865-8C>T)
c.4990-8C>T
n.3153-8C>T
c.5063-8C>T (n.5063-8C>T)
n.3884-8C>T
n.2321-8C>T
n.2292-8C>T
n.2182-8C>T
c.4724-8C>T (n.4724-8C>T)
c.*4236-8C>T (n.*4236-8C>T)
c.4760-8C>T (n.4760-8C>T)
n.2792-8C>T
c.1251-8C>T
n.2184-8C>T
c.5123-8C>T (n.5123-8C>T)
c.5120-8C>T (n.5120-8C>T)
c.5012-8C>T (n.5012-8C>T)
c.4991-8C>T (n.4991-8C>T)
c.4337-8C>T (n.4337-8C>T)
c.5285-8C>T (n.5285-8C>T)
c.5033-8C>T (n.5033-8C>T)
c.3779-8C>T (n.3779-8C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2088041T>ACA2731845517TSC2c.*3418-7T>A (n.*3418-7T>A)
c.4916-7T>A (n.4916-7T>A)
c.5066-7T>A (n.5066-7T>A)
c.*5582-7T>A (n.*5582-7T>A)
c.*7818-7T>A (n.*7818-7T>A)
c.5069-7T>A (n.5069-7T>A)
c.5000-7T>A (n.5000-7T>A)
c.4868-7T>A (n.4868-7T>A)
c.4901-7T>A (n.4901-7T>A)
c.1292-7T>A
n.2951-7T>A
c.3723-7T>A
c.4940-7T>A (n.4940-7T>A)
n.666-7T>A
c.4871-7T>A (n.4871-7T>A)
c.4937-7T>A (n.4937-7T>A)
c.4862-7T>A (n.4862-7T>A)
n.2717-7T>A
c.4994-7T>A (n.4994-7T>A)
c.4865-7T>A (n.4865-7T>A)
c.4990-7T>A
n.3153-7T>A
c.5063-7T>A (n.5063-7T>A)
n.3884-7T>A
n.2321-7T>A
n.2292-7T>A
n.2182-7T>A
c.4724-7T>A (n.4724-7T>A)
c.*4236-7T>A (n.*4236-7T>A)
c.4760-7T>A (n.4760-7T>A)
n.2792-7T>A
c.1251-7T>A
n.2184-7T>A
c.5123-7T>A (n.5123-7T>A)
c.5120-7T>A (n.5120-7T>A)
c.5012-7T>A (n.5012-7T>A)
c.4991-7T>A (n.4991-7T>A)
c.4337-7T>A (n.4337-7T>A)
c.5285-7T>A (n.5285-7T>A)
c.5033-7T>A (n.5033-7T>A)
c.3779-7T>A (n.3779-7T>A)
 dbSNP
16g.2088041T>CCA2731845521TSC2c.*3418-7T>C (n.*3418-7T>C)
c.4916-7T>C (n.4916-7T>C)
c.5066-7T>C (n.5066-7T>C)
c.*5582-7T>C (n.*5582-7T>C)
c.*7818-7T>C (n.*7818-7T>C)
c.5069-7T>C (n.5069-7T>C)
c.5000-7T>C (n.5000-7T>C)
c.4868-7T>C (n.4868-7T>C)
c.4901-7T>C (n.4901-7T>C)
c.1292-7T>C
n.2951-7T>C
c.3723-7T>C
c.4940-7T>C (n.4940-7T>C)
n.666-7T>C
c.4871-7T>C (n.4871-7T>C)
c.4937-7T>C (n.4937-7T>C)
c.4862-7T>C (n.4862-7T>C)
n.2717-7T>C
c.4994-7T>C (n.4994-7T>C)
c.4865-7T>C (n.4865-7T>C)
c.4990-7T>C
n.3153-7T>C
c.5063-7T>C (n.5063-7T>C)
n.3884-7T>C
n.2321-7T>C
n.2292-7T>C
n.2182-7T>C
c.4724-7T>C (n.4724-7T>C)
c.*4236-7T>C (n.*4236-7T>C)
c.4760-7T>C (n.4760-7T>C)
n.2792-7T>C
c.1251-7T>C
n.2184-7T>C
c.5123-7T>C (n.5123-7T>C)
c.5120-7T>C (n.5120-7T>C)
c.5012-7T>C (n.5012-7T>C)
c.4991-7T>C (n.4991-7T>C)
c.4337-7T>C (n.4337-7T>C)
c.5285-7T>C (n.5285-7T>C)
c.5033-7T>C (n.5033-7T>C)
c.3779-7T>C (n.3779-7T>C)
 dbSNP
16g.2088042C>ACA973770309TSC2c.*3418-6C>A (n.*3418-6C>A)
c.4916-6C>A (n.4916-6C>A)
c.5066-6C>A (n.5066-6C>A)
c.*5582-6C>A (n.*5582-6C>A)
c.*7818-6C>A (n.*7818-6C>A)
c.5069-6C>A (n.5069-6C>A)
c.5000-6C>A (n.5000-6C>A)
c.4868-6C>A (n.4868-6C>A)
c.4901-6C>A (n.4901-6C>A)
c.1292-6C>A
n.2951-6C>A
c.3723-6C>A
c.4940-6C>A (n.4940-6C>A)
n.666-6C>A
c.4871-6C>A (n.4871-6C>A)
c.4937-6C>A (n.4937-6C>A)
c.4862-6C>A (n.4862-6C>A)
n.2717-6C>A
c.4994-6C>A (n.4994-6C>A)
c.4865-6C>A (n.4865-6C>A)
c.4990-6C>A
n.3153-6C>A
c.5063-6C>A (n.5063-6C>A)
n.3884-6C>A
n.2321-6C>A
n.2292-6C>A
n.2182-6C>A
c.4724-6C>A (n.4724-6C>A)
c.*4236-6C>A (n.*4236-6C>A)
c.4760-6C>A (n.4760-6C>A)
n.2792-6C>A
c.1251-6C>A
n.2184-6C>A
c.5123-6C>A (n.5123-6C>A)
c.5120-6C>A (n.5120-6C>A)
c.5012-6C>A (n.5012-6C>A)
c.4991-6C>A (n.4991-6C>A)
c.4337-6C>A (n.4337-6C>A)
c.5285-6C>A (n.5285-6C>A)
c.5033-6C>A (n.5033-6C>A)
c.3779-6C>A (n.3779-6C>A)
 dbSNP gnomAD v3 gnomAD v4
16g.2088042C=CA2202030180TSC2c.*3418-6C= (n.*3418-6C=)
c.4916-6C= (n.4916-6C=)
c.5066-6C= (n.5066-6C=)
c.*5582-6C= (n.*5582-6C=)
c.*7818-6C= (n.*7818-6C=)
c.5069-6C= (n.5069-6C=)
c.5000-6C= (n.5000-6C=)
c.4868-6C= (n.4868-6C=)
c.4901-6C= (n.4901-6C=)
c.1292-6C=
n.2951-6C=
c.3723-6C=
c.4940-6C= (n.4940-6C=)
n.666-6C=
c.4871-6C= (n.4871-6C=)
c.4937-6C= (n.4937-6C=)
c.4862-6C= (n.4862-6C=)
n.2717-6C=
c.4994-6C= (n.4994-6C=)
c.4865-6C= (n.4865-6C=)
c.4990-6C=
n.3153-6C=
c.5063-6C= (n.5063-6C=)
n.3884-6C=
n.2321-6C=
n.2292-6C=
n.2182-6C=
c.4724-6C= (n.4724-6C=)
c.*4236-6C= (n.*4236-6C=)
c.4760-6C= (n.4760-6C=)
n.2792-6C=
c.1251-6C=
n.2184-6C=
c.5123-6C= (n.5123-6C=)
c.5120-6C= (n.5120-6C=)
c.5012-6C= (n.5012-6C=)
c.4991-6C= (n.4991-6C=)
c.4337-6C= (n.4337-6C=)
c.5285-6C= (n.5285-6C=)
c.5033-6C= (n.5033-6C=)
c.3779-6C= (n.3779-6C=)
16g.2088042C>GCA1139664247TSC2c.*3418-6C>G (n.*3418-6C>G)
c.4916-6C>G (n.4916-6C>G)
c.5066-6C>G (n.5066-6C>G)
c.*5582-6C>G (n.*5582-6C>G)
c.*7818-6C>G (n.*7818-6C>G)
c.5069-6C>G (n.5069-6C>G)
c.5000-6C>G (n.5000-6C>G)
c.4868-6C>G (n.4868-6C>G)
c.4901-6C>G (n.4901-6C>G)
c.1292-6C>G
n.2951-6C>G
c.3723-6C>G
c.4940-6C>G (n.4940-6C>G)
n.666-6C>G
c.4871-6C>G (n.4871-6C>G)
c.4937-6C>G (n.4937-6C>G)
c.4862-6C>G (n.4862-6C>G)
n.2717-6C>G
c.4994-6C>G (n.4994-6C>G)
c.4865-6C>G (n.4865-6C>G)
c.4990-6C>G
n.3153-6C>G
c.5063-6C>G (n.5063-6C>G)
n.3884-6C>G
n.2321-6C>G
n.2292-6C>G
n.2182-6C>G
c.4724-6C>G (n.4724-6C>G)
c.*4236-6C>G (n.*4236-6C>G)
c.4760-6C>G (n.4760-6C>G)
n.2792-6C>G
c.1251-6C>G
n.2184-6C>G
c.5123-6C>G (n.5123-6C>G)
c.5120-6C>G (n.5120-6C>G)
c.5012-6C>G (n.5012-6C>G)
c.4991-6C>G (n.4991-6C>G)
c.4337-6C>G (n.4337-6C>G)
c.5285-6C>G (n.5285-6C>G)
c.5033-6C>G (n.5033-6C>G)
c.3779-6C>G (n.3779-6C>G)
 ClinVar dbSNP
16g.2088042C>TCA620705116TSC2c.*3418-6C>T (n.*3418-6C>T)
c.4916-6C>T (n.4916-6C>T)
c.5066-6C>T (n.5066-6C>T)
c.*5582-6C>T (n.*5582-6C>T)
c.*7818-6C>T (n.*7818-6C>T)
c.5069-6C>T (n.5069-6C>T)
c.5000-6C>T (n.5000-6C>T)
c.4868-6C>T (n.4868-6C>T)
c.4901-6C>T (n.4901-6C>T)
c.1292-6C>T
n.2951-6C>T
c.3723-6C>T
c.4940-6C>T (n.4940-6C>T)
n.666-6C>T
c.4871-6C>T (n.4871-6C>T)
c.4937-6C>T (n.4937-6C>T)
c.4862-6C>T (n.4862-6C>T)
n.2717-6C>T
c.4994-6C>T (n.4994-6C>T)
c.4865-6C>T (n.4865-6C>T)
c.4990-6C>T
n.3153-6C>T
c.5063-6C>T (n.5063-6C>T)
n.3884-6C>T
n.2321-6C>T
n.2292-6C>T
n.2182-6C>T
c.4724-6C>T (n.4724-6C>T)
c.*4236-6C>T (n.*4236-6C>T)
c.4760-6C>T (n.4760-6C>T)
n.2792-6C>T
c.1251-6C>T
n.2184-6C>T
c.5123-6C>T (n.5123-6C>T)
c.5120-6C>T (n.5120-6C>T)
c.5012-6C>T (n.5012-6C>T)
c.4991-6C>T (n.4991-6C>T)
c.4337-6C>T (n.4337-6C>T)
c.5285-6C>T (n.5285-6C>T)
c.5033-6C>T (n.5033-6C>T)
c.3779-6C>T (n.3779-6C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2088045delCA2631117864TSC2c.*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
16g.2088043C=CA2202030183TSC2c.*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=)
16g.2088043C>TCA053871TSC2c.*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
16g.2088044C=CA2202030193TSC2c.*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=)
16g.2088044C>TCA658656630TSC2c.*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
16g.2088044_2088046delinsCCACA2202030188TSC2c.*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)
16g.2088045C>ACA2731662039TSC2c.*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
16g.2088045C=CA2202030199TSC2c.*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=)
16g.2088045C>TCA916081799TSC2c.*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
16g.2088045_2088046delCA645369669TSC2c.*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
16g.2088046A=CA2202030206TSC2c.*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=)
16g.2088046A>CCA16608078TSC2c.*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
16g.2088046A>GCA021662TSC2c.*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
16g.2088046A>TCA394311869TSC2c.*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
16g.2088047G>ACA021642TSC2c.*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
16g.2088047G>CCA021646TSC2c.*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
16g.2088047G=CA2202030213TSC2c.*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=)
16g.2088047G>TCA021651TSC2c.*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
16g.2088048A=CA2202030218TSC2c.*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=)
16g.2088048A>CCA394311878TSC2c.*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
16g.2088048A>GCA394311881TSC2c.*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
16g.2088048A>TCA394311883TSC2c.*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
16g.2088049C>ACA394311885TSC2c.*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
16g.2088049C=CA2202030224TSC2c.*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=)
16g.2088049C>GCA394311887TSC2c.*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
16g.2088049C>TCA493043629TSC2c.*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
16g.2088050A=CA2202030234TSC2c.*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=)
16g.2088050A>CCA394311892TSC2c.*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)
16g.2088050A>GCA053878TSC2c.*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
16g.2088050A>TCA394311897TSC2c.*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
16g.2088051T>ACA394311903TSC2c.*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)
16g.2088051T>CCA021670TSC2c.*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
16g.2088051T>GCA394311914TSC2c.*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)
16g.2088051T=CA2202030240TSC2c.*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=)
16g.2088051_2088055delinsTGGAGCA2202030244TSC2c.*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=)
16g.2088052G>ACA394311921TSC2c.*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
16g.2088052G>CCA394311925TSC2c.*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
16g.2088052G=CA2202030252TSC2c.*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=)
16g.2088052G>TCA394311928TSC2c.*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
16g.2088052_2088053delinsTCCA2573151969TSC2c.*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
16g.2088053dupCA1139664249TSC2c.*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
16g.2088054_2088056delCA2573151968TSC2c.*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
16g.2088054_2088057delCA021674TSC2c.*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
16g.2088053G>ACA394311931TSC2c.*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
16g.2088053G>CCA394311940TSC2c.*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
16g.2088053G>TCA394311945TSC2c.*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
16g.2088055_2088083delCA2499223351TSC2c.*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
16g.2088054A=CA2202030260TSC2c.*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=)
16g.2088054A>CCA394311949TSC2c.*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)
16g.2088054A>GCA276758823TSC2c.*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
16g.2088054A>TCA394311950TSC2c.*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
16g.2088054_2088055delinsAGCA2202030268TSC2c.*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=)
16g.2088055G>ACA493043630TSC2c.*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
16g.2088055G>CCA394311952TSC2c.*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
16g.2088055G=CA2202030275TSC2c.*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=)
16g.2088055G>TCA394311954TSC2c.*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)
16g.2088057delCA658656632TSC2c.*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
16g.2088056G>ACA394311966TSC2c.*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
16g.2088056G>CCA394311970TSC2c.*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
16g.2088056G=CA2202030280TSC2c.*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=)
16g.2088056G>TCA394311971TSC2c.*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
16g.2088056_2088060delinsGGCCTCA2202030281TSC2c.*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=)
16g.2088060_2088079delCA2695221733TSC2c.*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)
16g.2088057G>ACA394311984TSC2c.*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
16g.2088057G>CCA394311972TSC2c.*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
16g.2088057G=CA2202030286TSC2c.*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=)
16g.2088057G>TCA394311981TSC2c.*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
16g.2088057_2088060delCA021684TSC2c.*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
16g.2088058C>ACA493043633TSC2c.*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
16g.2088058C=CA2202030291TSC2c.*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=)
16g.2088058C>GCA493043632TSC2c.*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
16g.2088058C>TCA493043631TSC2c.*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
16g.2088058_2088067delCA2695221734TSC2c.*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?)
16g.2088059C>ACA394311986TSC2c.*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
16g.2088059C=CA2202030301TSC2c.*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=)
16g.2088059C>GCA394311988TSC2c.*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
16g.2088059C>TCA053886TSC2c.*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
16g.2088060T>ACA394311996TSC2c.*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)
16g.2088060T>CCA394312000TSC2c.*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
16g.2088060T>GCA394312003TSC2c.*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
16g.2088060T=CA2202030310TSC2c.*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=)
16g.2088061delCA2697549439TSC2c.*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
16g.2088060_2088061insACA1139664250TSC2c.*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
16g.2088061T>ACA493043634TSC2c.*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
16g.2088061T>CCA493043635TSC2c.*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
16g.2088061T>GCA493043636TSC2c.*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=)
16g.2088061_2088064delinsTGTGCA2202030318TSC2c.*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=)
16g.2088062G>ACA394312016TSC2c.*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
16g.2088062G>CCA394312021TSC2c.*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
16g.2088062G>TCA394312024TSC2c.*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
16g.2088063_2088065delCA053893TSC2c.*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
16g.2088062_2088073delinsGTGGACACCAGCCA2202030323TSC2c.*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=)
16g.2088063T>ACA394312037TSC2c.*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)
16g.2088063T>CCA394312039TSC2c.*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
16g.2088063T>GCA394312035TSC2c.*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
16g.2088063T=CA2202030335TSC2c.*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=)
16g.2088063_2088073delCA021693TSC2c.*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
16g.2088064G>ACA493043637TSC2c.*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
16g.2088064G>CCA493043638TSC2c.*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=)
16g.2088064G>TCA493043639TSC2c.*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
16g.2088065dupCA2499223352TSC2c.*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
16g.2088065G>ACA394312046TSC2c.*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
16g.2088065G>CCA394312048TSC2c.*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
16g.2088065G=CA2202030343TSC2c.*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=)
16g.2088065G>TCA394312051TSC2c.*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
16g.2088066A>CCA394312054TSC2c.*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
16g.2088066A>GCA394312068TSC2c.*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
16g.2088066A>TCA394312071TSC2c.*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
16g.2088067C>ACA394312074TSC2c.*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)
16g.2088067C=CA2202030353TSC2c.*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=)
16g.2088067C>GCA394312080TSC2c.*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
16g.2088067C>TCA053907TSC2c.*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
16g.2088068_2088078dupCA2695221736TSC2c.*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?)
16g.2088068A>CCA394312088TSC2c.*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)
16g.2088068A>GCA394312091TSC2c.*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
16g.2088068A>TCA394312095TSC2c.*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)
16g.2088069C>ACA394312100TSC2c.*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
16g.2088069C=CA2202030362TSC2c.*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=)
16g.2088069C>GCA394312103TSC2c.*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
16g.2088069C>TCA276758837TSC2c.*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
16g.2088070dupCA913184883TSC2c.*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)
16g.2088069_2088071delinsAGCA2695221737TSC2c.*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?)
16g.2088070C>ACA493043640TSC2c.*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=)
16g.2088070C=CA2202030368TSC2c.*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=)
16g.2088070C>GCA493043641TSC2c.*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
16g.2088070C>TCA053915TSC2c.*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
16g.2088071A=CA2202030373TSC2c.*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=)
16g.2088071A>CCA394312112TSC2c.*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
16g.2088071A>GCA394312114TSC2c.*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
16g.2088071A>TCA394312124TSC2c.*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
16g.2088072G>ACA394312133TSC2c.*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
16g.2088072G>CCA394312131TSC2c.*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
16g.2088072G=CA2202030380TSC2c.*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=)
16g.2088072G>TCA394312127TSC2c.*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)
16g.2088073C>ACA021705TSC2c.*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
16g.2088073C=CA2202030397TSC2c.*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=)
16g.2088073C>GCA394312138TSC2c.*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
16g.2088073C>TCA021712TSC2c.*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
16g.2088074G>ACA053941TSC2c.*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
16g.2088074G>CCA394312146TSC2c.*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
16g.2088074G=CA2202030408TSC2c.*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=)
16g.2088074G>TCA394312149TSC2c.*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)
16g.2088075T>ACA394312153TSC2c.*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)
16g.2088075T>CCA394312151TSC2c.*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)
16g.2088075T>GCA394312150TSC2c.*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)
16g.2088076G>ACA276758854TSC2c.*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
16g.2088076G>CCA021723TSC2c.*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
16g.2088076G=CA2202030413TSC2c.*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=)
16g.2088076G>TCA493043642TSC2c.*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
16g.2088077G>ACA394312162TSC2c.*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)
16g.2088077G>CCA394312165TSC2c.*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)
16g.2088077G>TCA394312169TSC2c.*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)
16g.2088078C>ACA394312175TSC2c.*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
16g.2088078C>GCA394312178TSC2c.*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
16g.2088078C>TCA394312182TSC2c.*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
16g.2088078_2088080delCA2805573811TSC2c.*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)
16g.2088079C>ACA493043643TSC2c.*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=)
16g.2088079C=CA2202030422TSC2c.*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=)
16g.2088079C>GCA493043644TSC2c.*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
16g.2088079C>TCA493043645TSC2c.*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
16g.2088080_2088104delCA2695221740TSC2c.*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?)
16g.2088080A>CCA394312186TSC2c.*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
16g.2088080A>GCA394312189TSC2c.*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
16g.2088080A>TCA394312192TSC2c.*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
16g.2088081_2088083delCA2695197401TSC2c.*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
16g.2088081A>CCA394312194TSC2c.*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
16g.2088081A>GCA394312196TSC2c.*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
16g.2088081A>TCA394312199TSC2c.*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
16g.2088082_2088083delCA2499223353TSC2c.*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
16g.2088082G>ACA493043646TSC2c.*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
16g.2088082G>CCA276758891TSC2c.*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
16g.2088082G=CA2202030431TSC2c.*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=)
16g.2088082G>TCA394312201TSC2c.*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)
16g.2088083A>CCA394312215TSC2c.*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
16g.2088083A>GCA394312224TSC2c.*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
16g.2088083A>TCA394312229TSC2c.*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
16g.2088084T>ACA394312231TSC2c.*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
16g.2088084T>CCA394312234TSC2c.*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
16g.2088084T>GCA394312236TSC2c.*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
16g.2088085C>ACA021728TSC2c.*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
16g.2088085C=CA2202030441TSC2c.*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=)
16g.2088085C>GCA394312240TSC2c.*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
16g.2088085C>TCA053958TSC2c.*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
16g.2088085_2088086insCACACA2695221743TSC2c.*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)
16g.2088086G>ACA394312247TSC2c.*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
16g.2088086G>CCA394312250TSC2c.*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
16g.2088086G=CA2202030451TSC2c.*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=)
16g.2088086G>TCA394312258TSC2c.*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)
16g.2088088_2088089delCA2695221742TSC2c.*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)
16g.2088087T>ACA394312263TSC2c.*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
16g.2088087T>CCA394312269TSC2c.*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
16g.2088087T>GCA021740TSC2c.*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
16g.2088087T=CA2202030464TSC2c.*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=)
16g.2088087dupCA021735TSC2c.*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
16g.2088088G>ACA276758905TSC2c.*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
16g.2088088G>CCA053961TSC2c.*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
16g.2088088G=CA2202030470TSC2c.*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=)
16g.2088088G>TCA493043647TSC2c.*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=)
16g.2088089T>ACA021746TSC2c.*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
16g.2088089T>CCA394312277TSC2c.*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
16g.2088089T>GCA053976TSC2c.*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
16g.2088089T=CA2202030481TSC2c.*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=)
16g.2088090_2088091dupCA2580091151TSC2c.*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
16g.2088090C>ACA394312286TSC2c.*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
16g.2088090C=CA2202030485TSC2c.*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=)
16g.2088090C>GCA394312290TSC2c.*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
16g.2088090C>TCA394312293TSC2c.*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
16g.2088091T>ACA053984TSC2c.*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
16g.2088091T>CCA493043649TSC2c.*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
16g.2088091T>GCA493043650TSC2c.*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=)
16g.2088091T=CA2202030490TSC2c.*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=)
16g.2088091dupCA021751TSC2c.*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
16g.2088092G>ACA394312304TSC2c.*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
16g.2088092G>CCA394312306TSC2c.*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
16g.2088092G>TCA394312310TSC2c.*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
16g.2088093_2088096dupCA2573151971TSC2c.*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
16g.2088093A=CA2202030494TSC2c.*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=)
16g.2088093A>CCA394312313TSC2c.*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
16g.2088093A>GCA394312318TSC2c.*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
16g.2088093A>TCA394312323TSC2c.*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)
16g.2088096_2088101delCA2573151972TSC2c.*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
16g.2088094C>ACA394312327TSC2c.*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
16g.2088094C=CA2202030511TSC2c.*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=)
16g.2088094C>GCA394312331TSC2c.*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
16g.2088094C>TCA493043652TSC2c.*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
16g.2088095dupCA021755TSC2c.*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
16g.2088094_2088095dupCA2580091153TSC2c.*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
16g.2088095C>ACA394312340TSC2c.*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
16g.2088095C=CA2202030519TSC2c.*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=)
16g.2088095C>GCA394312344TSC2c.*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
16g.2088095C>TCA021761TSC2c.*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
16g.2088095_2088098dupCA2695221744TSC2c.*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)
16g.2088096G>ACA021767TSC2c.*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
16g.2088096G>CCA394312354TSC2c.*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
16g.2088096G=CA2202030522TSC2c.*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=)
16g.2088096G>TCA394312358TSC2c.*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
16g.2088096dupCA913184882TSC2c.*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)
16g.2088097C>ACA493043653TSC2c.*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=)
16g.2088097C=CA2202030527TSC2c.*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=)
16g.2088097C>GCA493043656TSC2c.*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
16g.2088097C>TCA021772TSC2c.*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
16g.2088098A=CA2202030533TSC2c.*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=)
16g.2088098A>CCA394312361TSC2c.*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
16g.2088098A>GCA394312363TSC2c.*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
16g.2088098A>TCA394312366TSC2c.*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)
16g.2088099dupCA2580091154TSC2c.*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
16g.2088099A=CA2202030537TSC2c.*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=)
16g.2088099A>CCA394312371TSC2c.*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
16g.2088099A>GCA054000TSC2c.*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
16g.2088099A>TCA394312377TSC2c.*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
16g.2088099_2088100delinsACCA2202030540TSC2c.*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=)
16g.2088100C>ACA394312381TSC2c.*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)
 dbSNP
16g.2088100C>GCA394312386TSC2c.*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
16g.2088100C>TCA493043660TSC2c.*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
16g.2088101delCA021776TSC2c.*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
16g.2088101C>ACA394312394TSC2c.*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
16g.2088101C=CA2202030550TSC2c.*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=)
16g.2088101C>GCA394312391TSC2c.*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
16g.2088101C>TCA493043661TSC2c.*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
16g.2088102T>ACA394312399TSC2c.*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
16g.2088102T>CCA021783TSC2c.*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
16g.2088102T>GCA394312401TSC2c.*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)
16g.2088102T=CA2202030554TSC2c.*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=)
16g.2088103G>ACA493043663TSC2c.*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
16g.2088103G>CCA493043664TSC2c.*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
16g.2088103G>TCA493043665TSC2c.*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
16g.2088103_2088104delinsGCCA2202030560TSC2c.*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=)
16g.2088104C>ACA394312405TSC2c.*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
16g.2088104C=CA2202030569TSC2c.*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=)
16g.2088104C>GCA394312418TSC2c.*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
16g.2088104C>TCA394312416TSC2c.*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
16g.2088106dupCA021801TSC2c.*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
16g.2088106delCA021805TSC2c.*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
16g.2088105C>ACA394312422TSC2c.*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
16g.2088105C=CA2202030585TSC2c.*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=)
16g.2088105C>GCA021789TSC2c.*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
16g.2088105C>TCA021795TSC2c.*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
16g.2088106C>ACA493043668TSC2c.*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
16g.2088106C=CA2202030611TSC2c.*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=)
16g.2088106C>GCA493043669TSC2c.*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
16g.2088106C>TCA054009TSC2c.*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
16g.2088107_2088109delCA2697549440TSC2c.*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
16g.2088107T>ACA394312431TSC2c.*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
16g.2088107T>CCA394312434TSC2c.*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
16g.2088107T>GCA394312436TSC2c.*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)
16g.2088108T>ACA394312441TSC2c.*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
16g.2088108T>CCA394312443TSC2c.*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
16g.2088108T>GCA394312445TSC2c.*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
16g.2088108T=CA2202030618TSC2c.*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=)
16g.2088109C>ACA394312452TSC2c.*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
16g.2088109C=CA2202030625TSC2c.*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=)
16g.2088109C>GCA394312448TSC2c.*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
16g.2088109C>TCA054016TSC2c.*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
16g.2088110G>ACA021813TSC2c.*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
16g.2088110G>CCA394312457TSC2c.*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
16g.2088110G=CA2202030641TSC2c.*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=)
16g.2088110G>TCA394312460TSC2c.*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
16g.2088110_2088122delinsGTGGCCCGCCAGACA2202030634TSC2c.*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=)
16g.2088111T>ACA394312464TSC2c.*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
16g.2088111T>CCA394312468TSC2c.*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)
16g.2088111T>GCA394312472TSC2c.*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
16g.2088117_2088128delCA16620104TSC2c.*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
16g.2088112G>ACA493043672TSC2c.*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
16g.2088112G>CCA493043673TSC2c.*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
16g.2088112G=CA2202030649TSC2c.*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=)
16g.2088112G>TCA493043674TSC2c.*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
16g.2088113G>ACA394312476TSC2c.*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
16g.2088113G>CCA394312478TSC2c.*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
16g.2088113G=CA2202030658TSC2c.*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=)
16g.2088113G>TCA394312481TSC2c.*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
16g.2088113_2088114delinsTACA2695221745TSC2c.*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)
16g.2088113_2088115delinsGCCCA2202030657TSC2c.*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=)
16g.2088114C>ACA021820TSC2c.*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
16g.2088114C=CA2202030675TSC2c.*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=)
16g.2088114C>GCA394312487TSC2c.*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
16g.2088114C>TCA054027TSC2c.*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
16g.2088116delCA021834TSC2c.*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
16g.2088115_2088116delCA021825TSC2c.*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
16g.2088115C>ACA493043677TSC2c.*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
16g.2088115C=CA2202030687TSC2c.*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=)
16g.2088115C>GCA493043679TSC2c.*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
16g.2088115C>TCA10583342TSC2c.*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
16g.2088116C>ACA16621548TSC2c.*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
16g.2088116C=CA2202030699TSC2c.*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=)
16g.2088116C>GCA394312510TSC2c.*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
16g.2088116C>TCA054033TSC2c.*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
16g.2088117G>ACA021840TSC2c.*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
16g.2088117G>CCA021846TSC2c.*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
16g.2088117G=CA2202030712TSC2c.*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=)
16g.2088117G>TCA394312517TSC2c.*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)
16g.2088117_2088118delinsGCCA2202030716TSC2c.*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=)
16g.2088118C>ACA276759019TSC2c.*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
16g.2088118C=CA2202030734TSC2c.*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=)
16g.2088118C>GCA493043684TSC2c.*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=)
16g.2088118C>TCA054043TSC2c.*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
16g.2088119delCA10583343TSC2c.*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
16g.2088119C>ACA394312532TSC2c.*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
16g.2088119C=CA2202030741TSC2c.*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=)
16g.2088119C>GCA394312536TSC2c.*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
16g.2088119C>TCA021852TSC2c.*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
16g.2088120A>CCA394312547TSC2c.*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)
16g.2088120A>GCA394312541TSC2c.*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
16g.2088120A>TCA394312543TSC2c.*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
16g.2088121G>ACA054054TSC2c.*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
16g.2088121G>CCA394312551TSC2c.*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
16g.2088121G=CA2202030748TSC2c.*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=)
16g.2088121G>TCA394312553TSC2c.*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)
16g.2088122A=CA2202030760TSC2c.*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=)
16g.2088122A>CCA394312556TSC2c.*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
16g.2088122A>GCA021857TSC2c.*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
16g.2088122A>TCA394312571TSC2c.*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
16g.2088122_2088134delinsATGGCCCTGCACGCA2202030758TSC2c.*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=)
16g.2088123T>ACA394312581TSC2c.*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
16g.2088123T>CCA054058TSC2c.*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
16g.2088123T>GCA394312587TSC2c.*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)
16g.2088123T=CA2202030775TSC2c.*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=)
16g.2088123_2088134delCA021862TSC2c.*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
16g.2088126_2088170delCA2695221746TSC2c.*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
16g.2088124G>ACA394312596TSC2c.*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
16g.2088124G>CCA394312593TSC2c.*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)
16g.2088124G>TCA394312590TSC2c.*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)
16g.2088125delCA2695221747TSC2c.*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?)
16g.2088125G>ACA394312599TSC2c.*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
16g.2088125G>CCA021872TSC2c.*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
16g.2088125G=CA2202030782TSC2c.*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=)
16g.2088125G>TCA054063TSC2c.*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
16g.2088126C>ACA394312606TSC2c.*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
16g.2088126C=CA2202030793TSC2c.*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=)
16g.2088126C>GCA394312609TSC2c.*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
16g.2088126C>TCA394312611TSC2c.*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

Number of alleles fetched