Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2070341_2070498delCA2499223288TSC2c.*264-115_*306del
c.1762-115_1804del
c.1717-115_1759del
c.*1154-115_*1196del
c.*1322-115_*1364del
c.1750-115_1792del
c.374-115_416del
c.*1219-115_*1261del
c.*217-115_*259del
c.1710-115_1752del
n.709-115_751del
n.730-115_772del
c.1570-115_1612del
c.*1016-115_*1058del
c.1606-115_1648del
n.224-115_266del
n.442-115_484del
c.357-115_399del
c.1117-115_1159del
c.1879-115_1921del
c.373-115_415del
 ClinVar dbSNP
16g.2070395_2071309delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGACA2202017251TSC2c.*264-61_*387-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.1762-61_1885-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.1717-61_1840-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.*1154-61_*1277-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.*1322-61_*1445-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.1750-61_1873-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.374-61_497-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.*1219-61_*1342-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.*217-61_*340-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.1710-61_1833-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
n.709-61_832-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
n.730-61_853-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.1570-61_1693-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.*1016-61_*1139-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.1606-61_1729-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
n.224-61_347-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
n.442-61_565-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.357-61_480-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.1117-61_1240-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.1879-61_2002-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
c.373-61_496-201delinsGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGTATGGTGGCTGGGGTTGCGCAGCCAGTTCCTGGGGGCCCAGCCAGGTATCCCCGTCTCGGCAGGTGTGGTTCCTGGAAGCTGCAGAGACGGCCCCAGGATGGGGCCTCAGCTGACCGTCCCTCCTCTGCACCCACTGTGGCCGCAGCCTCCCCAGTCCTGGTGTCCTTCCCTCTGCCTGCAGTCCACACATCTGTGGCTTGTCGCTCTAAGCCGCACGGTGACATGGGTTGGGGCAGAGAAAAGGACGCACGGCGACTTCCGGGGCAGTGCATGGCCCTGACGCTCCTGGTGCTGCAGAATCTGTGAAGGACCTGCAGCAGAGGGCTGGGCAGGTGGGCGGCACAGGGCAGAGCTGAGAGGGCAGAGCTGAGACGGCAGGGCAGGGCTGGAGAGGGCAGAGCTGAGAGGGCAGGGCAGGGATGGGCAGAACAGGGCTGGAGGAGTTTCGCTGAGTTTGCGCTATAGATGTTGGCACCAGGCTGAGCAGAGGTGACTGGGATGGGAGCCCTCCCTCCTAGAGCAGGTGCTCTCTGGGGCCACCCCTGTGGCCTCAGAGTCCTGTTCAGCCTGTCGATGGAAGAAGTGGCAGGGCTGGGAGCTGAGCTCCGCTTTCTGGCAGTTGGGGGCGTGTGGTGCTGCCAGAGGAGCGAGGCGCCCATCCCTTCCATCCCAGGCGGGCCCAGCTGTGGTGGTGGGGACACCAGGCTCTGTGAGCTCCGAGGCAAGGGA
16g.2070396_2071309delCA1139664301TSC2c.*264-60_*387-201del
c.1762-60_1885-201del
c.1717-60_1840-201del
c.*1154-60_*1277-201del
c.*1322-60_*1445-201del
c.1750-60_1873-201del
c.374-60_497-201del
c.*1219-60_*1342-201del
c.*217-60_*340-201del
c.1710-60_1833-201del
n.709-60_832-201del
n.730-60_853-201del
c.1570-60_1693-201del
c.*1016-60_*1139-201del
c.1606-60_1729-201del
n.224-60_347-201del
n.442-60_565-201del
c.357-60_480-201del
c.1117-60_1240-201del
c.1879-60_2002-201del
c.373-60_496-201del
 ClinVar dbSNP
16g.2070456_2070578delCA015523TSC2c.*264_*386del
c.1762_1884del
c.1717_1839del
c.*1154_*1276del
c.*1322_*1444del
c.1750_1872del
c.374_496del
c.*1219_*1341del
c.*217_*339del
c.1710_1832del
n.709_831del
n.730_852del
c.1570_1692del
c.*1016_*1138del
c.1606_1728del
n.224_346del
n.442_564del
c.357_479del
c.1117_1239del
c.1879_2001del
c.373_495del
16g.2070464_2070542delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCCA2202017462TSC2c.*272_*350delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (n.*272_*350delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC)
c.1770_1848delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (p.Leu590=)
c.1725_1803delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (p.Leu575=)
c.*1162_*1240delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (n.*1162_*1240delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC)
c.*1330_*1408delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (n.*1330_*1408delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC)
c.1758_1836delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (p.Leu586=)
c.382_460delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC
c.*1227_*1305delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (n.*1227_*1305delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC)
c.*225_*303delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (n.*225_*303delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC)
c.1718_1796delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC
n.717_795delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC
n.5_83delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC
n.738_816delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC
c.1578_1656delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (p.Leu526=)
c.*1024_*1102delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (n.*1024_*1102delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC)
c.1614_1692delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (p.Leu538=)
n.232_310delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC
n.450_528delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC
c.365_443delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (n.365_443delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC)
c.1125_1203delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (p.Leu375=)
c.1887_1965delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (p.Leu629=)
c.381_459delinsGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGC (p.Leu127=)
16g.2070476_2070553delCA015600TSC2c.*284_*361del (n.*284_*361del)
c.1782_1859del (p.Ala595_Pro620del)
c.1737_1814del (p.Ala580_Pro605del)
c.*1174_*1251del (n.*1174_*1251del)
c.*1342_*1419del (n.*1342_*1419del)
c.1770_1847del (p.Ala591_Pro616del)
c.394_471del
c.*1239_*1316del (n.*1239_*1316del)
c.*237_*314del (n.*237_*314del)
c.1730_1807del
n.729_806del
n.17_94del
n.750_827del
c.1590_1667del (p.Ala531_Pro556del)
c.*1036_*1113del (n.*1036_*1113del)
c.1626_1703del (p.Ala543_Pro568del)
n.244_321del
n.462_539del
c.377_454del (n.377_454del)
c.1137_1214del (p.Ala380_Pro405del)
c.1899_1976del (p.Ala634_Pro659del)
c.393_470del (p.Ala132_Pro157del)
 ClinVar dbSNP
16g.2070480_2070760delCA2580090556TSC2c.*288_*386+182del
c.1786_1884+182del
c.1741_1839+182del
c.*1178_*1276+182del
c.*1346_*1444+182del
c.1774_1872+182del
c.398_496+182del
c.*1243_*1341+182del
c.*241_*339+182del
c.1734_1832+182del
n.733_831+182del
n.21_119+182del
n.754_852+182del
c.1594_1692+182del
c.*1040_*1138+182del
c.1630_1728+182del
n.248_346+182del
n.466_564+182del
c.381_479+182del
c.1141_1239+182del
c.1903_2001+182del
c.397_495+182del
 ClinVar
16g.2070477G>ACA394272728TSC2c.*285G>A (n.*285G>A)
c.1783G>A (p.Ala595Thr)
c.1738G>A (p.Ala580Thr)
c.*1175G>A (n.*1175G>A)
c.*1343G>A (n.*1343G>A)
c.1771G>A (p.Ala591Thr)
c.395G>A
c.*1240G>A (n.*1240G>A)
c.*238G>A (n.*238G>A)
c.1731G>A
n.730G>A
n.18G>A
n.751G>A
c.1591G>A (p.Ala531Thr)
c.*1037G>A (n.*1037G>A)
c.1627G>A (p.Ala543Thr)
n.245G>A
n.463G>A
c.378G>A (n.378G>A)
c.1138G>A (p.Ala380Thr)
c.1900G>A (p.Ala634Thr)
c.394G>A (p.Ala132Thr)
 ClinVar dbSNP
16g.2070477G>CCA394272731TSC2c.*285G>C (n.*285G>C)
c.1783G>C (p.Ala595Pro)
c.1738G>C (p.Ala580Pro)
c.*1175G>C (n.*1175G>C)
c.*1343G>C (n.*1343G>C)
c.1771G>C (p.Ala591Pro)
c.395G>C
c.*1240G>C (n.*1240G>C)
c.*238G>C (n.*238G>C)
c.1731G>C
n.730G>C
n.18G>C
n.751G>C
c.1591G>C (p.Ala531Pro)
c.*1037G>C (n.*1037G>C)
c.1627G>C (p.Ala543Pro)
n.245G>C
n.463G>C
c.378G>C (n.378G>C)
c.1138G>C (p.Ala380Pro)
c.1900G>C (p.Ala634Pro)
c.394G>C (p.Ala132Pro)
 dbSNP
16g.2070477G=CA2202017545TSC2c.*285G= (n.*285G=)
c.1783G= (p.Ala595=)
c.1738G= (p.Ala580=)
c.*1175G= (n.*1175G=)
c.*1343G= (n.*1343G=)
c.1771G= (p.Ala591=)
c.395G=
c.*1240G= (n.*1240G=)
c.*238G= (n.*238G=)
c.1731G=
n.730G=
n.18G=
n.751G=
c.1591G= (p.Ala531=)
c.*1037G= (n.*1037G=)
c.1627G= (p.Ala543=)
n.245G=
n.463G=
c.378G= (n.378G=)
c.1138G= (p.Ala380=)
c.1900G= (p.Ala634=)
c.394G= (p.Ala132=)
16g.2070477G>TCA394272729TSC2c.*285G>T (n.*285G>T)
c.1783G>T (p.Ala595Ser)
c.1738G>T (p.Ala580Ser)
c.*1175G>T (n.*1175G>T)
c.*1343G>T (n.*1343G>T)
c.1771G>T (p.Ala591Ser)
c.395G>T
c.*1240G>T (n.*1240G>T)
c.*238G>T (n.*238G>T)
c.1731G>T
n.730G>T
n.18G>T
n.751G>T
c.1591G>T (p.Ala531Ser)
c.*1037G>T (n.*1037G>T)
c.1627G>T (p.Ala543Ser)
n.245G>T
n.463G>T
c.378G>T (n.378G>T)
c.1138G>T (p.Ala380Ser)
c.1900G>T (p.Ala634Ser)
c.394G>T (p.Ala132Ser)
 dbSNP
16g.2070478C>ACA394272734TSC2c.*286C>A (n.*286C>A)
c.1784C>A (p.Ala595Glu)
c.1739C>A (p.Ala580Glu)
c.*1176C>A (n.*1176C>A)
c.*1344C>A (n.*1344C>A)
c.1772C>A (p.Ala591Glu)
c.396C>A
c.*1241C>A (n.*1241C>A)
c.*239C>A (n.*239C>A)
c.1732C>A
n.731C>A
n.19C>A
n.752C>A
c.1592C>A (p.Ala531Glu)
c.*1038C>A (n.*1038C>A)
c.1628C>A (p.Ala543Glu)
n.246C>A
n.464C>A
c.379C>A (n.379C>A)
c.1139C>A (p.Ala380Glu)
c.1901C>A (p.Ala634Glu)
c.395C>A (p.Ala132Glu)
16g.2070478C=CA2202017552TSC2c.*286C= (n.*286C=)
c.1784C= (p.Ala595=)
c.1739C= (p.Ala580=)
c.*1176C= (n.*1176C=)
c.*1344C= (n.*1344C=)
c.1772C= (p.Ala591=)
c.396C=
c.*1241C= (n.*1241C=)
c.*239C= (n.*239C=)
c.1732C=
n.731C=
n.19C=
n.752C=
c.1592C= (p.Ala531=)
c.*1038C= (n.*1038C=)
c.1628C= (p.Ala543=)
n.246C=
n.464C=
c.379C= (n.379C=)
c.1139C= (p.Ala380=)
c.1901C= (p.Ala634=)
c.395C= (p.Ala132=)
16g.2070478C>GCA033236TSC2c.*286C>G (n.*286C>G)
c.1784C>G (p.Ala595Gly)
c.1739C>G (p.Ala580Gly)
c.*1176C>G (n.*1176C>G)
c.*1344C>G (n.*1344C>G)
c.1772C>G (p.Ala591Gly)
c.396C>G
c.*1241C>G (n.*1241C>G)
c.*239C>G (n.*239C>G)
c.1732C>G
n.731C>G
n.19C>G
n.752C>G
c.1592C>G (p.Ala531Gly)
c.*1038C>G (n.*1038C>G)
c.1628C>G (p.Ala543Gly)
n.246C>G
n.464C>G
c.379C>G (n.379C>G)
c.1139C>G (p.Ala380Gly)
c.1901C>G (p.Ala634Gly)
c.395C>G (p.Ala132Gly)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
16g.2070478C>TCA394272740TSC2c.*286C>T (n.*286C>T)
c.1784C>T (p.Ala595Val)
c.1739C>T (p.Ala580Val)
c.*1176C>T (n.*1176C>T)
c.*1344C>T (n.*1344C>T)
c.1772C>T (p.Ala591Val)
c.396C>T
c.*1241C>T (n.*1241C>T)
c.*239C>T (n.*239C>T)
c.1732C>T
n.731C>T
n.19C>T
n.752C>T
c.1592C>T (p.Ala531Val)
c.*1038C>T (n.*1038C>T)
c.1628C>T (p.Ala543Val)
n.246C>T
n.464C>T
c.379C>T (n.379C>T)
c.1139C>T (p.Ala380Val)
c.1901C>T (p.Ala634Val)
c.395C>T (p.Ala132Val)
 ClinVar dbSNP
16g.2070480_2070484dupCA2573151518TSC2c.*288_*292dup (n.*288_*292dup)
c.1786_1790dup (p.His597GlnfsTer?)
c.1741_1745dup (p.His582GlnfsTer?)
c.*1178_*1182dup (n.*1178_*1182dup)
c.*1346_*1350dup (n.*1346_*1350dup)
c.1774_1778dup (p.His593GlnfsTer?)
c.398_402dup
c.*1243_*1247dup (n.*1243_*1247dup)
c.*241_*245dup (n.*241_*245dup)
c.1734_1738dup
n.733_737dup
n.21_25dup
n.754_758dup
c.1594_1598dup (p.His533GlnfsTer?)
c.*1040_*1044dup (n.*1040_*1044dup)
c.1630_1634dup (p.His545GlnfsTer?)
n.248_252dup
n.466_470dup
c.381_385dup (n.381_385dup)
c.1141_1145dup (p.His382GlnfsTer?)
c.1903_1907dup (p.His636GlnfsTer?)
c.397_401dup (p.His134GlnfsTer?)
 ClinVar dbSNP
16g.2070478_2070479insTCA1139664302TSC2c.*286_*287insT (n.*286_*287insT)
c.1784_1785insT (p.Ser596LysfsTer8)
c.1739_1740insT (p.Ser581LysfsTer8)
c.*1176_*1177insT (n.*1176_*1177insT)
c.*1344_*1345insT (n.*1344_*1345insT)
c.1772_1773insT (p.Ser592LysfsTer8)
c.396_397insT
c.*1241_*1242insT (n.*1241_*1242insT)
c.*239_*240insT (n.*239_*240insT)
c.1732_1733insT
n.731_732insT
n.19_20insT
n.752_753insT
c.1592_1593insT (p.Ser532LysfsTer8)
c.*1038_*1039insT (n.*1038_*1039insT)
c.1628_1629insT (p.Ser544LysfsTer8)
n.246_247insT
n.464_465insT
c.379_380insT (n.379_380insT)
c.1139_1140insT (p.Ser381LysfsTer8)
c.1901_1902insT (p.Ser635LysfsTer8)
c.395_396insT (p.Ser133LysfsTer8)
 ClinVar dbSNP
16g.2070479A=CA2202017561TSC2c.*287A= (n.*287A=)
c.1785A= (p.Ala595=)
c.1740A= (p.Ala580=)
c.*1177A= (n.*1177A=)
c.*1345A= (n.*1345A=)
c.1773A= (p.Ala591=)
c.397A=
c.*1242A= (n.*1242A=)
c.*240A= (n.*240A=)
c.1733A=
n.732A=
n.20A=
n.753A=
c.1593A= (p.Ala531=)
c.*1039A= (n.*1039A=)
c.1629A= (p.Ala543=)
n.247A=
n.465A=
c.380A= (n.380A=)
c.1140A= (p.Ala380=)
c.1902A= (p.Ala634=)
c.396A= (p.Ala132=)
16g.2070479A>CCA16606927TSC2c.*287A>C (n.*287A>C)
c.1785A>C (p.Ala595=)
c.1740A>C (p.Ala580=)
c.*1177A>C (n.*1177A>C)
c.*1345A>C (n.*1345A>C)
c.1773A>C (p.Ala591=)
c.397A>C
c.*1242A>C (n.*1242A>C)
c.*240A>C (n.*240A>C)
c.1733A>C
n.732A>C
n.20A>C
n.753A>C
c.1593A>C (p.Ala531=)
c.*1039A>C (n.*1039A>C)
c.1629A>C (p.Ala543=)
n.247A>C
n.465A>C
c.380A>C (n.380A>C)
c.1140A>C (p.Ala380=)
c.1902A>C (p.Ala634=)
c.396A>C (p.Ala132=)
 ClinVar dbSNP
16g.2070479A>GCA492949701TSC2c.*287A>G (n.*287A>G)
c.1785A>G (p.Ala595=)
c.1740A>G (p.Ala580=)
c.*1177A>G (n.*1177A>G)
c.*1345A>G (n.*1345A>G)
c.1773A>G (p.Ala591=)
c.397A>G
c.*1242A>G (n.*1242A>G)
c.*240A>G (n.*240A>G)
c.1733A>G
n.732A>G
n.20A>G
n.753A>G
c.1593A>G (p.Ala531=)
c.*1039A>G (n.*1039A>G)
c.1629A>G (p.Ala543=)
n.247A>G
n.465A>G
c.380A>G (n.380A>G)
c.1140A>G (p.Ala380=)
c.1902A>G (p.Ala634=)
c.396A>G (p.Ala132=)
 ClinVar dbSNP
16g.2070479A>TCA492949703TSC2c.*287A>T (n.*287A>T)
c.1785A>T (p.Ala595=)
c.1740A>T (p.Ala580=)
c.*1177A>T (n.*1177A>T)
c.*1345A>T (n.*1345A>T)
c.1773A>T (p.Ala591=)
c.397A>T
c.*1242A>T (n.*1242A>T)
c.*240A>T (n.*240A>T)
c.1733A>T
n.732A>T
n.20A>T
n.753A>T
c.1593A>T (p.Ala531=)
c.*1039A>T (n.*1039A>T)
c.1629A>T (p.Ala543=)
n.247A>T
n.465A>T
c.380A>T (n.380A>T)
c.1140A>T (p.Ala380=)
c.1902A>T (p.Ala634=)
c.396A>T (p.Ala132=)
16g.2070480dupCA015613TSC2c.*288dup (n.*288dup)
c.1786dup (p.Ser596LysfsTer8)
c.1741dup (p.Ser581LysfsTer8)
c.*1178dup (n.*1178dup)
c.*1346dup (n.*1346dup)
c.1774dup (p.Ser592LysfsTer8)
c.398dup
c.*1243dup (n.*1243dup)
c.*241dup (n.*241dup)
c.1734dup
n.733dup
n.21dup
n.754dup
c.1594dup (p.Ser532LysfsTer8)
c.*1040dup (n.*1040dup)
c.1630dup (p.Ser544LysfsTer8)
n.248dup
n.466dup
c.381dup (n.381dup)
c.1141dup (p.Ser381LysfsTer8)
c.1903dup (p.Ser635LysfsTer8)
c.397dup (p.Ser133LysfsTer8)
 ClinVar dbSNP
16g.2070480A=CA2202017566TSC2c.*288A= (n.*288A=)
c.1786A= (p.Ser596=)
c.1741A= (p.Ser581=)
c.*1178A= (n.*1178A=)
c.*1346A= (n.*1346A=)
c.1774A= (p.Ser592=)
c.398A=
c.*1243A= (n.*1243A=)
c.*241A= (n.*241A=)
c.1734A=
n.733A=
n.21A=
n.754A=
c.1594A= (p.Ser532=)
c.*1040A= (n.*1040A=)
c.1630A= (p.Ser544=)
n.248A=
n.466A=
c.381A= (n.381A=)
c.1141A= (p.Ser381=)
c.1903A= (p.Ser635=)
c.397A= (p.Ser133=)
16g.2070480A>CCA394272742TSC2c.*288A>C (n.*288A>C)
c.1786A>C (p.Ser596Arg)
c.1741A>C (p.Ser581Arg)
c.*1178A>C (n.*1178A>C)
c.*1346A>C (n.*1346A>C)
c.1774A>C (p.Ser592Arg)
c.398A>C
c.*1243A>C (n.*1243A>C)
c.*241A>C (n.*241A>C)
c.1734A>C
n.733A>C
n.21A>C
n.754A>C
c.1594A>C (p.Ser532Arg)
c.*1040A>C (n.*1040A>C)
c.1630A>C (p.Ser544Arg)
n.248A>C
n.466A>C
c.381A>C (n.381A>C)
c.1141A>C (p.Ser381Arg)
c.1903A>C (p.Ser635Arg)
c.397A>C (p.Ser133Arg)
16g.2070480A>GCA394272743TSC2c.*288A>G (n.*288A>G)
c.1786A>G (p.Ser596Gly)
c.1741A>G (p.Ser581Gly)
c.*1178A>G (n.*1178A>G)
c.*1346A>G (n.*1346A>G)
c.1774A>G (p.Ser592Gly)
c.398A>G
c.*1243A>G (n.*1243A>G)
c.*241A>G (n.*241A>G)
c.1734A>G
n.733A>G
n.21A>G
n.754A>G
c.1594A>G (p.Ser532Gly)
c.*1040A>G (n.*1040A>G)
c.1630A>G (p.Ser544Gly)
n.248A>G
n.466A>G
c.381A>G (n.381A>G)
c.1141A>G (p.Ser381Gly)
c.1903A>G (p.Ser635Gly)
c.397A>G (p.Ser133Gly)
16g.2070480A>TCA394272745TSC2c.*288A>T (n.*288A>T)
c.1786A>T (p.Ser596Cys)
c.1741A>T (p.Ser581Cys)
c.*1178A>T (n.*1178A>T)
c.*1346A>T (n.*1346A>T)
c.1774A>T (p.Ser592Cys)
c.398A>T
c.*1243A>T (n.*1243A>T)
c.*241A>T (n.*241A>T)
c.1734A>T
n.733A>T
n.21A>T
n.754A>T
c.1594A>T (p.Ser532Cys)
c.*1040A>T (n.*1040A>T)
c.1630A>T (p.Ser544Cys)
n.248A>T
n.466A>T
c.381A>T (n.381A>T)
c.1141A>T (p.Ser381Cys)
c.1903A>T (p.Ser635Cys)
c.397A>T (p.Ser133Cys)
 ClinVar dbSNP
16g.2070481G>ACA015625TSC2c.*289G>A (n.*289G>A)
c.1787G>A (p.Ser596Asn)
c.1742G>A (p.Ser581Asn)
c.*1179G>A (n.*1179G>A)
c.*1347G>A (n.*1347G>A)
c.1775G>A (p.Ser592Asn)
c.399G>A
c.*1244G>A (n.*1244G>A)
c.*242G>A (n.*242G>A)
c.1735G>A
n.734G>A
n.22G>A
n.755G>A
c.1595G>A (p.Ser532Asn)
c.*1041G>A (n.*1041G>A)
c.1631G>A (p.Ser544Asn)
n.249G>A
n.467G>A
c.382G>A (n.382G>A)
c.1142G>A (p.Ser381Asn)
c.1904G>A (p.Ser635Asn)
c.398G>A (p.Ser133Asn)
 ClinVar dbSNP
16g.2070481G>CCA394272750TSC2c.*289G>C (n.*289G>C)
c.1787G>C (p.Ser596Thr)
c.1742G>C (p.Ser581Thr)
c.*1179G>C (n.*1179G>C)
c.*1347G>C (n.*1347G>C)
c.1775G>C (p.Ser592Thr)
c.399G>C
c.*1244G>C (n.*1244G>C)
c.*242G>C (n.*242G>C)
c.1735G>C
n.734G>C
n.22G>C
n.755G>C
c.1595G>C (p.Ser532Thr)
c.*1041G>C (n.*1041G>C)
c.1631G>C (p.Ser544Thr)
n.249G>C
n.467G>C
c.382G>C (n.382G>C)
c.1142G>C (p.Ser381Thr)
c.1904G>C (p.Ser635Thr)
c.398G>C (p.Ser133Thr)
 dbSNP
16g.2070481G=CA2202017577TSC2c.*289G= (n.*289G=)
c.1787G= (p.Ser596=)
c.1742G= (p.Ser581=)
c.*1179G= (n.*1179G=)
c.*1347G= (n.*1347G=)
c.1775G= (p.Ser592=)
c.399G=
c.*1244G= (n.*1244G=)
c.*242G= (n.*242G=)
c.1735G=
n.734G=
n.22G=
n.755G=
c.1595G= (p.Ser532=)
c.*1041G= (n.*1041G=)
c.1631G= (p.Ser544=)
n.249G=
n.467G=
c.382G= (n.382G=)
c.1142G= (p.Ser381=)
c.1904G= (p.Ser635=)
c.398G= (p.Ser133=)
16g.2070481G>TCA394272751TSC2c.*289G>T (n.*289G>T)
c.1787G>T (p.Ser596Ile)
c.1742G>T (p.Ser581Ile)
c.*1179G>T (n.*1179G>T)
c.*1347G>T (n.*1347G>T)
c.1775G>T (p.Ser592Ile)
c.399G>T
c.*1244G>T (n.*1244G>T)
c.*242G>T (n.*242G>T)
c.1735G>T
n.734G>T
n.22G>T
n.755G>T
c.1595G>T (p.Ser532Ile)
c.*1041G>T (n.*1041G>T)
c.1631G>T (p.Ser544Ile)
n.249G>T
n.467G>T
c.382G>T (n.382G>T)
c.1142G>T (p.Ser381Ile)
c.1904G>T (p.Ser635Ile)
c.398G>T (p.Ser133Ile)
 ClinVar dbSNP gnomAD v4
16g.2070488_2070492dupCA891844065TSC2c.*296_*300dup (n.*296_*300dup)
c.1794_1798dup (p.Arg600ProfsTer?)
c.1749_1753dup (p.Arg585ProfsTer?)
c.*1186_*1190dup (n.*1186_*1190dup)
c.*1354_*1358dup (n.*1354_*1358dup)
c.1782_1786dup (p.Arg596ProfsTer?)
c.406_410dup
c.*1251_*1255dup (n.*1251_*1255dup)
c.*249_*253dup (n.*249_*253dup)
c.1742_1746dup
n.741_745dup
n.29_33dup
n.762_766dup
c.1602_1606dup (p.Arg536ProfsTer?)
c.*1048_*1052dup (n.*1048_*1052dup)
c.1638_1642dup (p.Arg548ProfsTer?)
n.256_260dup
n.474_478dup
c.389_393dup (n.389_393dup)
c.1149_1153dup (p.Arg385ProfsTer?)
c.1911_1915dup (p.Arg639ProfsTer?)
c.405_409dup (p.Arg137ProfsTer?)
 ClinVar dbSNP
16g.2070482C>ACA033256TSC2c.*290C>A (n.*290C>A)
c.1788C>A (p.Ser596Arg)
c.1743C>A (p.Ser581Arg)
c.*1180C>A (n.*1180C>A)
c.*1348C>A (n.*1348C>A)
c.1776C>A (p.Ser592Arg)
c.400C>A
c.*1245C>A (n.*1245C>A)
c.*243C>A (n.*243C>A)
c.1736C>A
n.735C>A
n.23C>A
n.756C>A
c.1596C>A (p.Ser532Arg)
c.*1042C>A (n.*1042C>A)
c.1632C>A (p.Ser544Arg)
n.250C>A
n.468C>A
c.383C>A (n.383C>A)
c.1143C>A (p.Ser381Arg)
c.1905C>A (p.Ser635Arg)
c.399C>A (p.Ser133Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070482C=CA2202017587TSC2c.*290C= (n.*290C=)
c.1788C= (p.Ser596=)
c.1743C= (p.Ser581=)
c.*1180C= (n.*1180C=)
c.*1348C= (n.*1348C=)
c.1776C= (p.Ser592=)
c.400C=
c.*1245C= (n.*1245C=)
c.*243C= (n.*243C=)
c.1736C=
n.735C=
n.23C=
n.756C=
c.1596C= (p.Ser532=)
c.*1042C= (n.*1042C=)
c.1632C= (p.Ser544=)
n.250C=
n.468C=
c.383C= (n.383C=)
c.1143C= (p.Ser381=)
c.1905C= (p.Ser635=)
c.399C= (p.Ser133=)
16g.2070482C>GCA394272756TSC2c.*290C>G (n.*290C>G)
c.1788C>G (p.Ser596Arg)
c.1743C>G (p.Ser581Arg)
c.*1180C>G (n.*1180C>G)
c.*1348C>G (n.*1348C>G)
c.1776C>G (p.Ser592Arg)
c.400C>G
c.*1245C>G (n.*1245C>G)
c.*243C>G (n.*243C>G)
c.1736C>G
n.735C>G
n.23C>G
n.756C>G
c.1596C>G (p.Ser532Arg)
c.*1042C>G (n.*1042C>G)
c.1632C>G (p.Ser544Arg)
n.250C>G
n.468C>G
c.383C>G (n.383C>G)
c.1143C>G (p.Ser381Arg)
c.1905C>G (p.Ser635Arg)
c.399C>G (p.Ser133Arg)
 ClinVar dbSNP
16g.2070482C>TCA492949705TSC2c.*290C>T (n.*290C>T)
c.1788C>T (p.Ser596=)
c.1743C>T (p.Ser581=)
c.*1180C>T (n.*1180C>T)
c.*1348C>T (n.*1348C>T)
c.1776C>T (p.Ser592=)
c.400C>T
c.*1245C>T (n.*1245C>T)
c.*243C>T (n.*243C>T)
c.1736C>T
n.735C>T
n.23C>T
n.756C>T
c.1596C>T (p.Ser532=)
c.*1042C>T (n.*1042C>T)
c.1632C>T (p.Ser544=)
n.250C>T
n.468C>T
c.383C>T (n.383C>T)
c.1143C>T (p.Ser381=)
c.1905C>T (p.Ser635=)
c.399C>T (p.Ser133=)
 ClinVar dbSNP COSMIC COSMIC
16g.2070483C>ACA394272764TSC2c.*291C>A (n.*291C>A)
c.1789C>A (p.His597Asn)
c.1744C>A (p.His582Asn)
c.*1181C>A (n.*1181C>A)
c.*1349C>A (n.*1349C>A)
c.1777C>A (p.His593Asn)
c.401C>A
c.*1246C>A (n.*1246C>A)
c.*244C>A (n.*244C>A)
c.1737C>A
n.736C>A
n.24C>A
n.757C>A
c.1597C>A (p.His533Asn)
c.*1043C>A (n.*1043C>A)
c.1633C>A (p.His545Asn)
n.251C>A
n.469C>A
c.384C>A (n.384C>A)
c.1144C>A (p.His382Asn)
c.1906C>A (p.His636Asn)
c.400C>A (p.His134Asn)
16g.2070483C=CA2202017598TSC2c.*291C= (n.*291C=)
c.1789C= (p.His597=)
c.1744C= (p.His582=)
c.*1181C= (n.*1181C=)
c.*1349C= (n.*1349C=)
c.1777C= (p.His593=)
c.401C=
c.*1246C= (n.*1246C=)
c.*244C= (n.*244C=)
c.1737C=
n.736C=
n.24C=
n.757C=
c.1597C= (p.His533=)
c.*1043C= (n.*1043C=)
c.1633C= (p.His545=)
n.251C=
n.469C=
c.384C= (n.384C=)
c.1144C= (p.His382=)
c.1906C= (p.His636=)
c.400C= (p.His134=)
16g.2070483C>GCA394272760TSC2c.*291C>G (n.*291C>G)
c.1789C>G (p.His597Asp)
c.1744C>G (p.His582Asp)
c.*1181C>G (n.*1181C>G)
c.*1349C>G (n.*1349C>G)
c.1777C>G (p.His593Asp)
c.401C>G
c.*1246C>G (n.*1246C>G)
c.*244C>G (n.*244C>G)
c.1737C>G
n.736C>G
n.24C>G
n.757C>G
c.1597C>G (p.His533Asp)
c.*1043C>G (n.*1043C>G)
c.1633C>G (p.His545Asp)
n.251C>G
n.469C>G
c.384C>G (n.384C>G)
c.1144C>G (p.His382Asp)
c.1906C>G (p.His636Asp)
c.400C>G (p.His134Asp)
 ClinVar dbSNP gnomAD v4
16g.2070483C>TCA394272762TSC2c.*291C>T (n.*291C>T)
c.1789C>T (p.His597Tyr)
c.1744C>T (p.His582Tyr)
c.*1181C>T (n.*1181C>T)
c.*1349C>T (n.*1349C>T)
c.1777C>T (p.His593Tyr)
c.401C>T
c.*1246C>T (n.*1246C>T)
c.*244C>T (n.*244C>T)
c.1737C>T
n.736C>T
n.24C>T
n.757C>T
c.1597C>T (p.His533Tyr)
c.*1043C>T (n.*1043C>T)
c.1633C>T (p.His545Tyr)
n.251C>T
n.469C>T
c.384C>T (n.384C>T)
c.1144C>T (p.His382Tyr)
c.1906C>T (p.His636Tyr)
c.400C>T (p.His134Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2070484A=CA2202017605TSC2c.*292A= (n.*292A=)
c.1790A= (p.His597=)
c.1745A= (p.His582=)
c.*1182A= (n.*1182A=)
c.*1350A= (n.*1350A=)
c.1778A= (p.His593=)
c.402A=
c.*1247A= (n.*1247A=)
c.*245A= (n.*245A=)
c.1738A=
n.737A=
n.25A=
n.758A=
c.1598A= (p.His533=)
c.*1044A= (n.*1044A=)
c.1634A= (p.His545=)
n.252A=
n.470A=
c.385A= (n.385A=)
c.1145A= (p.His382=)
c.1907A= (p.His636=)
c.401A= (p.His134=)
16g.2070484A>CCA394272766TSC2c.*292A>C (n.*292A>C)
c.1790A>C (p.His597Pro)
c.1745A>C (p.His582Pro)
c.*1182A>C (n.*1182A>C)
c.*1350A>C (n.*1350A>C)
c.1778A>C (p.His593Pro)
c.402A>C
c.*1247A>C (n.*1247A>C)
c.*245A>C (n.*245A>C)
c.1738A>C
n.737A>C
n.25A>C
n.758A>C
c.1598A>C (p.His533Pro)
c.*1044A>C (n.*1044A>C)
c.1634A>C (p.His545Pro)
n.252A>C
n.470A>C
c.385A>C (n.385A>C)
c.1145A>C (p.His382Pro)
c.1907A>C (p.His636Pro)
c.401A>C (p.His134Pro)
 dbSNP
16g.2070484A>GCA394272769TSC2c.*292A>G (n.*292A>G)
c.1790A>G (p.His597Arg)
c.1745A>G (p.His582Arg)
c.*1182A>G (n.*1182A>G)
c.*1350A>G (n.*1350A>G)
c.1778A>G (p.His593Arg)
c.402A>G
c.*1247A>G (n.*1247A>G)
c.*245A>G (n.*245A>G)
c.1738A>G
n.737A>G
n.25A>G
n.758A>G
c.1598A>G (p.His533Arg)
c.*1044A>G (n.*1044A>G)
c.1634A>G (p.His545Arg)
n.252A>G
n.470A>G
c.385A>G (n.385A>G)
c.1145A>G (p.His382Arg)
c.1907A>G (p.His636Arg)
c.401A>G (p.His134Arg)
 ClinVar dbSNP
16g.2070484A>TCA394272772TSC2c.*292A>T (n.*292A>T)
c.1790A>T (p.His597Leu)
c.1745A>T (p.His582Leu)
c.*1182A>T (n.*1182A>T)
c.*1350A>T (n.*1350A>T)
c.1778A>T (p.His593Leu)
c.402A>T
c.*1247A>T (n.*1247A>T)
c.*245A>T (n.*245A>T)
c.1738A>T
n.737A>T
n.25A>T
n.758A>T
c.1598A>T (p.His533Leu)
c.*1044A>T (n.*1044A>T)
c.1634A>T (p.His545Leu)
n.252A>T
n.470A>T
c.385A>T (n.385A>T)
c.1145A>T (p.His382Leu)
c.1907A>T (p.His636Leu)
c.401A>T (p.His134Leu)
 ClinVar dbSNP
16g.2070485C>ACA394272775TSC2c.*293C>A (n.*293C>A)
c.1791C>A (p.His597Gln)
c.1746C>A (p.His582Gln)
c.*1183C>A (n.*1183C>A)
c.*1351C>A (n.*1351C>A)
c.1779C>A (p.His593Gln)
c.403C>A
c.*1248C>A (n.*1248C>A)
c.*246C>A (n.*246C>A)
c.1739C>A
n.738C>A
n.26C>A
n.759C>A
c.1599C>A (p.His533Gln)
c.*1045C>A (n.*1045C>A)
c.1635C>A (p.His545Gln)
n.253C>A
n.471C>A
c.386C>A (n.386C>A)
c.1146C>A (p.His382Gln)
c.1908C>A (p.His636Gln)
c.402C>A (p.His134Gln)
 ClinVar dbSNP
16g.2070485C=CA2202017614TSC2c.*293C= (n.*293C=)
c.1791C= (p.His597=)
c.1746C= (p.His582=)
c.*1183C= (n.*1183C=)
c.*1351C= (n.*1351C=)
c.1779C= (p.His593=)
c.403C=
c.*1248C= (n.*1248C=)
c.*246C= (n.*246C=)
c.1739C=
n.738C=
n.26C=
n.759C=
c.1599C= (p.His533=)
c.*1045C= (n.*1045C=)
c.1635C= (p.His545=)
n.253C=
n.471C=
c.386C= (n.386C=)
c.1146C= (p.His382=)
c.1908C= (p.His636=)
c.402C= (p.His134=)
16g.2070485C>GCA394272776TSC2c.*293C>G (n.*293C>G)
c.1791C>G (p.His597Gln)
c.1746C>G (p.His582Gln)
c.*1183C>G (n.*1183C>G)
c.*1351C>G (n.*1351C>G)
c.1779C>G (p.His593Gln)
c.403C>G
c.*1248C>G (n.*1248C>G)
c.*246C>G (n.*246C>G)
c.1739C>G
n.738C>G
n.26C>G
n.759C>G
c.1599C>G (p.His533Gln)
c.*1045C>G (n.*1045C>G)
c.1635C>G (p.His545Gln)
n.253C>G
n.471C>G
c.386C>G (n.386C>G)
c.1146C>G (p.His382Gln)
c.1908C>G (p.His636Gln)
c.402C>G (p.His134Gln)
 dbSNP
16g.2070485C>TCA10579876TSC2c.*293C>T (n.*293C>T)
c.1791C>T (p.His597=)
c.1746C>T (p.His582=)
c.*1183C>T (n.*1183C>T)
c.*1351C>T (n.*1351C>T)
c.1779C>T (p.His593=)
c.403C>T
c.*1248C>T (n.*1248C>T)
c.*246C>T (n.*246C>T)
c.1739C>T
n.738C>T
n.26C>T
n.759C>T
c.1599C>T (p.His533=)
c.*1045C>T (n.*1045C>T)
c.1635C>T (p.His545=)
n.253C>T
n.471C>T
c.386C>T (n.386C>T)
c.1146C>T (p.His382=)
c.1908C>T (p.His636=)
c.402C>T (p.His134=)
 ClinVar dbSNP gnomAD v4
16g.2070486G>ACA015633TSC2c.*294G>A (n.*294G>A)
c.1792G>A (p.Ala598Thr)
c.1747G>A (p.Ala583Thr)
c.*1184G>A (n.*1184G>A)
c.*1352G>A (n.*1352G>A)
c.1780G>A (p.Ala594Thr)
c.404G>A
c.*1249G>A (n.*1249G>A)
c.*247G>A (n.*247G>A)
c.1740G>A
n.739G>A
n.27G>A
n.760G>A
c.1600G>A (p.Ala534Thr)
c.*1046G>A (n.*1046G>A)
c.1636G>A (p.Ala546Thr)
n.254G>A
n.472G>A
c.387G>A (n.387G>A)
c.1147G>A (p.Ala383Thr)
c.1909G>A (p.Ala637Thr)
c.403G>A (p.Ala135Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2070486G>CCA394272785TSC2c.*294G>C (n.*294G>C)
c.1792G>C (p.Ala598Pro)
c.1747G>C (p.Ala583Pro)
c.*1184G>C (n.*1184G>C)
c.*1352G>C (n.*1352G>C)
c.1780G>C (p.Ala594Pro)
c.404G>C
c.*1249G>C (n.*1249G>C)
c.*247G>C (n.*247G>C)
c.1740G>C
n.739G>C
n.27G>C
n.760G>C
c.1600G>C (p.Ala534Pro)
c.*1046G>C (n.*1046G>C)
c.1636G>C (p.Ala546Pro)
n.254G>C
n.472G>C
c.387G>C (n.387G>C)
c.1147G>C (p.Ala383Pro)
c.1909G>C (p.Ala637Pro)
c.403G>C (p.Ala135Pro)
16g.2070486G=CA2202017621TSC2c.*294G= (n.*294G=)
c.1792G= (p.Ala598=)
c.1747G= (p.Ala583=)
c.*1184G= (n.*1184G=)
c.*1352G= (n.*1352G=)
c.1780G= (p.Ala594=)
c.404G=
c.*1249G= (n.*1249G=)
c.*247G= (n.*247G=)
c.1740G=
n.739G=
n.27G=
n.760G=
c.1600G= (p.Ala534=)
c.*1046G= (n.*1046G=)
c.1636G= (p.Ala546=)
n.254G=
n.472G=
c.387G= (n.387G=)
c.1147G= (p.Ala383=)
c.1909G= (p.Ala637=)
c.403G= (p.Ala135=)
16g.2070486G>TCA394272778TSC2c.*294G>T (n.*294G>T)
c.1792G>T (p.Ala598Ser)
c.1747G>T (p.Ala583Ser)
c.*1184G>T (n.*1184G>T)
c.*1352G>T (n.*1352G>T)
c.1780G>T (p.Ala594Ser)
c.404G>T
c.*1249G>T (n.*1249G>T)
c.*247G>T (n.*247G>T)
c.1740G>T
n.739G>T
n.27G>T
n.760G>T
c.1600G>T (p.Ala534Ser)
c.*1046G>T (n.*1046G>T)
c.1636G>T (p.Ala546Ser)
n.254G>T
n.472G>T
c.387G>T (n.387G>T)
c.1147G>T (p.Ala383Ser)
c.1909G>T (p.Ala637Ser)
c.403G>T (p.Ala135Ser)
 ClinVar gnomAD v4
16g.2070487C>ACA394272789TSC2c.*295C>A (n.*295C>A)
c.1793C>A (p.Ala598Asp)
c.1748C>A (p.Ala583Asp)
c.*1185C>A (n.*1185C>A)
c.*1353C>A (n.*1353C>A)
c.1781C>A (p.Ala594Asp)
c.405C>A
c.*1250C>A (n.*1250C>A)
c.*248C>A (n.*248C>A)
c.1741C>A
n.740C>A
n.28C>A
n.761C>A
c.1601C>A (p.Ala534Asp)
c.*1047C>A (n.*1047C>A)
c.1637C>A (p.Ala546Asp)
n.255C>A
n.473C>A
c.388C>A (n.388C>A)
c.1148C>A (p.Ala383Asp)
c.1910C>A (p.Ala637Asp)
c.404C>A (p.Ala135Asp)
 dbSNP
16g.2070487C=CA2202017628TSC2c.*295C= (n.*295C=)
c.1793C= (p.Ala598=)
c.1748C= (p.Ala583=)
c.*1185C= (n.*1185C=)
c.*1353C= (n.*1353C=)
c.1781C= (p.Ala594=)
c.405C=
c.*1250C= (n.*1250C=)
c.*248C= (n.*248C=)
c.1741C=
n.740C=
n.28C=
n.761C=
c.1601C= (p.Ala534=)
c.*1047C= (n.*1047C=)
c.1637C= (p.Ala546=)
n.255C=
n.473C=
c.388C= (n.388C=)
c.1148C= (p.Ala383=)
c.1910C= (p.Ala637=)
c.404C= (p.Ala135=)
16g.2070487C>GCA394272792TSC2c.*295C>G (n.*295C>G)
c.1793C>G (p.Ala598Gly)
c.1748C>G (p.Ala583Gly)
c.*1185C>G (n.*1185C>G)
c.*1353C>G (n.*1353C>G)
c.1781C>G (p.Ala594Gly)
c.405C>G
c.*1250C>G (n.*1250C>G)
c.*248C>G (n.*248C>G)
c.1741C>G
n.740C>G
n.28C>G
n.761C>G
c.1601C>G (p.Ala534Gly)
c.*1047C>G (n.*1047C>G)
c.1637C>G (p.Ala546Gly)
n.255C>G
n.473C>G
c.388C>G (n.388C>G)
c.1148C>G (p.Ala383Gly)
c.1910C>G (p.Ala637Gly)
c.404C>G (p.Ala135Gly)
 dbSNP
16g.2070487C>TCA033283TSC2c.*295C>T (n.*295C>T)
c.1793C>T (p.Ala598Val)
c.1748C>T (p.Ala583Val)
c.*1185C>T (n.*1185C>T)
c.*1353C>T (n.*1353C>T)
c.1781C>T (p.Ala594Val)
c.405C>T
c.*1250C>T (n.*1250C>T)
c.*248C>T (n.*248C>T)
c.1741C>T
n.740C>T
n.28C>T
n.761C>T
c.1601C>T (p.Ala534Val)
c.*1047C>T (n.*1047C>T)
c.1637C>T (p.Ala546Val)
n.255C>T
n.473C>T
c.388C>T (n.388C>T)
c.1148C>T (p.Ala383Val)
c.1910C>T (p.Ala637Val)
c.404C>T (p.Ala135Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070488C>ACA492949709TSC2c.*296C>A (n.*296C>A)
c.1794C>A (p.Ala598=)
c.1749C>A (p.Ala583=)
c.*1186C>A (n.*1186C>A)
c.*1354C>A (n.*1354C>A)
c.1782C>A (p.Ala594=)
c.406C>A
c.*1251C>A (n.*1251C>A)
c.*249C>A (n.*249C>A)
c.1742C>A
n.741C>A
n.29C>A
n.762C>A
c.1602C>A (p.Ala534=)
c.*1048C>A (n.*1048C>A)
c.1638C>A (p.Ala546=)
n.256C>A
n.474C>A
c.389C>A (n.389C>A)
c.1149C>A (p.Ala383=)
c.1911C>A (p.Ala637=)
c.405C>A (p.Ala135=)
 dbSNP
16g.2070488C>GCA492949710TSC2c.*296C>G (n.*296C>G)
c.1794C>G (p.Ala598=)
c.1749C>G (p.Ala583=)
c.*1186C>G (n.*1186C>G)
c.*1354C>G (n.*1354C>G)
c.1782C>G (p.Ala594=)
c.406C>G
c.*1251C>G (n.*1251C>G)
c.*249C>G (n.*249C>G)
c.1742C>G
n.741C>G
n.29C>G
n.762C>G
c.1602C>G (p.Ala534=)
c.*1048C>G (n.*1048C>G)
c.1638C>G (p.Ala546=)
n.256C>G
n.474C>G
c.389C>G (n.389C>G)
c.1149C>G (p.Ala383=)
c.1911C>G (p.Ala637=)
c.405C>G (p.Ala135=)
 gnomAD v4
16g.2070488C>TCA492949711TSC2c.*296C>T (n.*296C>T)
c.1794C>T (p.Ala598=)
c.1749C>T (p.Ala583=)
c.*1186C>T (n.*1186C>T)
c.*1354C>T (n.*1354C>T)
c.1782C>T (p.Ala594=)
c.406C>T
c.*1251C>T (n.*1251C>T)
c.*249C>T (n.*249C>T)
c.1742C>T
n.741C>T
n.29C>T
n.762C>T
c.1602C>T (p.Ala534=)
c.*1048C>T (n.*1048C>T)
c.1638C>T (p.Ala546=)
n.256C>T
n.474C>T
c.389C>T (n.389C>T)
c.1149C>T (p.Ala383=)
c.1911C>T (p.Ala637=)
c.405C>T (p.Ala135=)
 ClinVar dbSNP
16g.2070489A>CCA394272794TSC2c.*297A>C (n.*297A>C)
c.1795A>C (p.Thr599Pro)
c.1750A>C (p.Thr584Pro)
c.*1187A>C (n.*1187A>C)
c.*1355A>C (n.*1355A>C)
c.1783A>C (p.Thr595Pro)
c.407A>C
c.*1252A>C (n.*1252A>C)
c.*250A>C (n.*250A>C)
c.1743A>C
n.742A>C
n.30A>C
n.763A>C
c.1603A>C (p.Thr535Pro)
c.*1049A>C (n.*1049A>C)
c.1639A>C (p.Thr547Pro)
n.257A>C
n.475A>C
c.390A>C (n.390A>C)
c.1150A>C (p.Thr384Pro)
c.1912A>C (p.Thr638Pro)
c.406A>C (p.Thr136Pro)
 dbSNP
16g.2070489A>GCA394272795TSC2c.*297A>G (n.*297A>G)
c.1795A>G (p.Thr599Ala)
c.1750A>G (p.Thr584Ala)
c.*1187A>G (n.*1187A>G)
c.*1355A>G (n.*1355A>G)
c.1783A>G (p.Thr595Ala)
c.407A>G
c.*1252A>G (n.*1252A>G)
c.*250A>G (n.*250A>G)
c.1743A>G
n.742A>G
n.30A>G
n.763A>G
c.1603A>G (p.Thr535Ala)
c.*1049A>G (n.*1049A>G)
c.1639A>G (p.Thr547Ala)
n.257A>G
n.475A>G
c.390A>G (n.390A>G)
c.1150A>G (p.Thr384Ala)
c.1912A>G (p.Thr638Ala)
c.406A>G (p.Thr136Ala)
 dbSNP
16g.2070489A>TCA394272798TSC2c.*297A>T (n.*297A>T)
c.1795A>T (p.Thr599Ser)
c.1750A>T (p.Thr584Ser)
c.*1187A>T (n.*1187A>T)
c.*1355A>T (n.*1355A>T)
c.1783A>T (p.Thr595Ser)
c.407A>T
c.*1252A>T (n.*1252A>T)
c.*250A>T (n.*250A>T)
c.1743A>T
n.742A>T
n.30A>T
n.763A>T
c.1603A>T (p.Thr535Ser)
c.*1049A>T (n.*1049A>T)
c.1639A>T (p.Thr547Ser)
n.257A>T
n.475A>T
c.390A>T (n.390A>T)
c.1150A>T (p.Thr384Ser)
c.1912A>T (p.Thr638Ser)
c.406A>T (p.Thr136Ser)
 dbSNP
16g.2070490C>ACA394272802TSC2c.*298C>A (n.*298C>A)
c.1796C>A (p.Thr599Lys)
c.1751C>A (p.Thr584Lys)
c.*1188C>A (n.*1188C>A)
c.*1356C>A (n.*1356C>A)
c.1784C>A (p.Thr595Lys)
c.408C>A
c.*1253C>A (n.*1253C>A)
c.*251C>A (n.*251C>A)
c.1744C>A
n.743C>A
n.31C>A
n.764C>A
c.1604C>A (p.Thr535Lys)
c.*1050C>A (n.*1050C>A)
c.1640C>A (p.Thr547Lys)
n.258C>A
n.476C>A
c.391C>A (n.391C>A)
c.1151C>A (p.Thr384Lys)
c.1913C>A (p.Thr638Lys)
c.407C>A (p.Thr136Lys)
16g.2070490C=CA2202017641TSC2c.*298C= (n.*298C=)
c.1796C= (p.Thr599=)
c.1751C= (p.Thr584=)
c.*1188C= (n.*1188C=)
c.*1356C= (n.*1356C=)
c.1784C= (p.Thr595=)
c.408C=
c.*1253C= (n.*1253C=)
c.*251C= (n.*251C=)
c.1744C=
n.743C=
n.31C=
n.764C=
c.1604C= (p.Thr535=)
c.*1050C= (n.*1050C=)
c.1640C= (p.Thr547=)
n.258C=
n.476C=
c.391C= (n.391C=)
c.1151C= (p.Thr384=)
c.1913C= (p.Thr638=)
c.407C= (p.Thr136=)
16g.2070490C>GCA394272807TSC2c.*298C>G (n.*298C>G)
c.1796C>G (p.Thr599Arg)
c.1751C>G (p.Thr584Arg)
c.*1188C>G (n.*1188C>G)
c.*1356C>G (n.*1356C>G)
c.1784C>G (p.Thr595Arg)
c.408C>G
c.*1253C>G (n.*1253C>G)
c.*251C>G (n.*251C>G)
c.1744C>G
n.743C>G
n.31C>G
n.764C>G
c.1604C>G (p.Thr535Arg)
c.*1050C>G (n.*1050C>G)
c.1640C>G (p.Thr547Arg)
n.258C>G
n.476C>G
c.391C>G (n.391C>G)
c.1151C>G (p.Thr384Arg)
c.1913C>G (p.Thr638Arg)
c.407C>G (p.Thr136Arg)
 ClinVar dbSNP
16g.2070490C>TCA033300TSC2c.*298C>T (n.*298C>T)
c.1796C>T (p.Thr599Met)
c.1751C>T (p.Thr584Met)
c.*1188C>T (n.*1188C>T)
c.*1356C>T (n.*1356C>T)
c.1784C>T (p.Thr595Met)
c.408C>T
c.*1253C>T (n.*1253C>T)
c.*251C>T (n.*251C>T)
c.1744C>T
n.743C>T
n.31C>T
n.764C>T
c.1604C>T (p.Thr535Met)
c.*1050C>T (n.*1050C>T)
c.1640C>T (p.Thr547Met)
n.258C>T
n.476C>T
c.391C>T (n.391C>T)
c.1151C>T (p.Thr384Met)
c.1913C>T (p.Thr638Met)
c.407C>T (p.Thr136Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2070492_2070493delCA2580612690TSC2c.*300_*301del (n.*300_*301del)
c.1798_1799del (p.Arg600CysfsTer3)
c.1753_1754del (p.Arg585CysfsTer3)
c.*1190_*1191del (n.*1190_*1191del)
c.*1358_*1359del (n.*1358_*1359del)
c.1786_1787del (p.Arg596CysfsTer3)
c.410_411del
c.*1255_*1256del (n.*1255_*1256del)
c.*253_*254del (n.*253_*254del)
c.1746_1747del
n.745_746del
n.33_34del
n.766_767del
c.1606_1607del (p.Arg536CysfsTer3)
c.*1052_*1053del (n.*1052_*1053del)
c.1642_1643del (p.Arg548CysfsTer3)
n.260_261del
n.478_479del
c.393_394del (n.393_394del)
c.1153_1154del (p.Arg385CysfsTer3)
c.1915_1916del (p.Arg639CysfsTer3)
c.409_410del (p.Arg137CysfsTer3)
 ClinVar
16g.2070491G>ACA015642TSC2c.*299G>A (n.*299G>A)
c.1797G>A (p.Thr599=)
c.1752G>A (p.Thr584=)
c.*1189G>A (n.*1189G>A)
c.*1357G>A (n.*1357G>A)
c.1785G>A (p.Thr595=)
c.409G>A
c.*1254G>A (n.*1254G>A)
c.*252G>A (n.*252G>A)
c.1745G>A
n.744G>A
n.32G>A
n.765G>A
c.1605G>A (p.Thr535=)
c.*1051G>A (n.*1051G>A)
c.1641G>A (p.Thr547=)
n.259G>A
n.477G>A
c.392G>A (n.392G>A)
c.1152G>A (p.Thr384=)
c.1914G>A (p.Thr638=)
c.408G>A (p.Thr136=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2070491G>CCA492949718TSC2c.*299G>C (n.*299G>C)
c.1797G>C (p.Thr599=)
c.1752G>C (p.Thr584=)
c.*1189G>C (n.*1189G>C)
c.*1357G>C (n.*1357G>C)
c.1785G>C (p.Thr595=)
c.409G>C
c.*1254G>C (n.*1254G>C)
c.*252G>C (n.*252G>C)
c.1745G>C
n.744G>C
n.32G>C
n.765G>C
c.1605G>C (p.Thr535=)
c.*1051G>C (n.*1051G>C)
c.1641G>C (p.Thr547=)
n.259G>C
n.477G>C
c.392G>C (n.392G>C)
c.1152G>C (p.Thr384=)
c.1914G>C (p.Thr638=)
c.408G>C (p.Thr136=)
 ClinVar dbSNP
16g.2070491G=CA2202017648TSC2c.*299G= (n.*299G=)
c.1797G= (p.Thr599=)
c.1752G= (p.Thr584=)
c.*1189G= (n.*1189G=)
c.*1357G= (n.*1357G=)
c.1785G= (p.Thr595=)
c.409G=
c.*1254G= (n.*1254G=)
c.*252G= (n.*252G=)
c.1745G=
n.744G=
n.32G=
n.765G=
c.1605G= (p.Thr535=)
c.*1051G= (n.*1051G=)
c.1641G= (p.Thr547=)
n.259G=
n.477G=
c.392G= (n.392G=)
c.1152G= (p.Thr384=)
c.1914G= (p.Thr638=)
c.408G= (p.Thr136=)
16g.2070491G>TCA492949720TSC2c.*299G>T (n.*299G>T)
c.1797G>T (p.Thr599=)
c.1752G>T (p.Thr584=)
c.*1189G>T (n.*1189G>T)
c.*1357G>T (n.*1357G>T)
c.1785G>T (p.Thr595=)
c.409G>T
c.*1254G>T (n.*1254G>T)
c.*252G>T (n.*252G>T)
c.1745G>T
n.744G>T
n.32G>T
n.765G>T
c.1605G>T (p.Thr535=)
c.*1051G>T (n.*1051G>T)
c.1641G>T (p.Thr547=)
n.259G>T
n.477G>T
c.392G>T (n.392G>T)
c.1152G>T (p.Thr384=)
c.1914G>T (p.Thr638=)
c.408G>T (p.Thr136=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2070492C>ACA394272812TSC2c.*300C>A (n.*300C>A)
c.1798C>A (p.Arg600Ser)
c.1753C>A (p.Arg585Ser)
c.*1190C>A (n.*1190C>A)
c.*1358C>A (n.*1358C>A)
c.1786C>A (p.Arg596Ser)
c.410C>A
c.*1255C>A (n.*1255C>A)
c.*253C>A (n.*253C>A)
c.1746C>A
n.745C>A
n.33C>A
n.766C>A
c.1606C>A (p.Arg536Ser)
c.*1052C>A (n.*1052C>A)
c.1642C>A (p.Arg548Ser)
n.260C>A
n.478C>A
c.393C>A (n.393C>A)
c.1153C>A (p.Arg385Ser)
c.1915C>A (p.Arg639Ser)
c.409C>A (p.Arg137Ser)
16g.2070492C=CA2202017665TSC2c.*300C= (n.*300C=)
c.1798C= (p.Arg600=)
c.1753C= (p.Arg585=)
c.*1190C= (n.*1190C=)
c.*1358C= (n.*1358C=)
c.1786C= (p.Arg596=)
c.410C=
c.*1255C= (n.*1255C=)
c.*253C= (n.*253C=)
c.1746C=
n.745C=
n.33C=
n.766C=
c.1606C= (p.Arg536=)
c.*1052C= (n.*1052C=)
c.1642C= (p.Arg548=)
n.260C=
n.478C=
c.393C= (n.393C=)
c.1153C= (p.Arg385=)
c.1915C= (p.Arg639=)
c.409C= (p.Arg137=)
16g.2070492C>GCA394272814TSC2c.*300C>G (n.*300C>G)
c.1798C>G (p.Arg600Gly)
c.1753C>G (p.Arg585Gly)
c.*1190C>G (n.*1190C>G)
c.*1358C>G (n.*1358C>G)
c.1786C>G (p.Arg596Gly)
c.410C>G
c.*1255C>G (n.*1255C>G)
c.*253C>G (n.*253C>G)
c.1746C>G
n.745C>G
n.33C>G
n.766C>G
c.1606C>G (p.Arg536Gly)
c.*1052C>G (n.*1052C>G)
c.1642C>G (p.Arg548Gly)
n.260C>G
n.478C>G
c.393C>G (n.393C>G)
c.1153C>G (p.Arg385Gly)
c.1915C>G (p.Arg639Gly)
c.409C>G (p.Arg137Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2070492C>TCA033336TSC2c.*300C>T (n.*300C>T)
c.1798C>T (p.Arg600Cys)
c.1753C>T (p.Arg585Cys)
c.*1190C>T (n.*1190C>T)
c.*1358C>T (n.*1358C>T)
c.1786C>T (p.Arg596Cys)
c.410C>T
c.*1255C>T (n.*1255C>T)
c.*253C>T (n.*253C>T)
c.1746C>T
n.745C>T
n.33C>T
n.766C>T
c.1606C>T (p.Arg536Cys)
c.*1052C>T (n.*1052C>T)
c.1642C>T (p.Arg548Cys)
n.260C>T
n.478C>T
c.393C>T (n.393C>T)
c.1153C>T (p.Arg385Cys)
c.1915C>T (p.Arg639Cys)
c.409C>T (p.Arg137Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2070492_2070494delinsCGTCA2202017661TSC2c.*300_*302delinsCGT (n.*300_*302delinsCGT)
c.1798_1800delinsCGT (p.Arg600=)
c.1753_1755delinsCGT (p.Arg585=)
c.*1190_*1192delinsCGT (n.*1190_*1192delinsCGT)
c.*1358_*1360delinsCGT (n.*1358_*1360delinsCGT)
c.1786_1788delinsCGT (p.Arg596=)
c.410_412delinsCGT
c.*1255_*1257delinsCGT (n.*1255_*1257delinsCGT)
c.*253_*255delinsCGT (n.*253_*255delinsCGT)
c.1746_1748delinsCGT
n.745_747delinsCGT
n.33_35delinsCGT
n.766_768delinsCGT
c.1606_1608delinsCGT (p.Arg536=)
c.*1052_*1054delinsCGT (n.*1052_*1054delinsCGT)
c.1642_1644delinsCGT (p.Arg548=)
n.260_262delinsCGT
n.478_480delinsCGT
c.393_395delinsCGT (n.393_395delinsCGT)
c.1153_1155delinsCGT (p.Arg385=)
c.1915_1917delinsCGT (p.Arg639=)
c.409_411delinsCGT (p.Arg137=)
16g.2070493G>ACA015651TSC2c.*301G>A (n.*301G>A)
c.1799G>A (p.Arg600His)
c.1754G>A (p.Arg585His)
c.*1191G>A (n.*1191G>A)
c.*1359G>A (n.*1359G>A)
c.1787G>A (p.Arg596His)
c.411G>A
c.*1256G>A (n.*1256G>A)
c.*254G>A (n.*254G>A)
c.1747G>A
n.746G>A
n.34G>A
n.767G>A
c.1607G>A (p.Arg536His)
c.*1053G>A (n.*1053G>A)
c.1643G>A (p.Arg548His)
n.261G>A
n.479G>A
c.394G>A (n.394G>A)
c.1154G>A (p.Arg385His)
c.1916G>A (p.Arg639His)
c.410G>A (p.Arg137His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.2070493G>CCA394272818TSC2c.*301G>C (n.*301G>C)
c.1799G>C (p.Arg600Pro)
c.1754G>C (p.Arg585Pro)
c.*1191G>C (n.*1191G>C)
c.*1359G>C (n.*1359G>C)
c.1787G>C (p.Arg596Pro)
c.411G>C
c.*1256G>C (n.*1256G>C)
c.*254G>C (n.*254G>C)
c.1747G>C
n.746G>C
n.34G>C
n.767G>C
c.1607G>C (p.Arg536Pro)
c.*1053G>C (n.*1053G>C)
c.1643G>C (p.Arg548Pro)
n.261G>C
n.479G>C
c.394G>C (n.394G>C)
c.1154G>C (p.Arg385Pro)
c.1916G>C (p.Arg639Pro)
c.410G>C (p.Arg137Pro)
 dbSNP
16g.2070493G=CA2202017677TSC2c.*301G= (n.*301G=)
c.1799G= (p.Arg600=)
c.1754G= (p.Arg585=)
c.*1191G= (n.*1191G=)
c.*1359G= (n.*1359G=)
c.1787G= (p.Arg596=)
c.411G=
c.*1256G= (n.*1256G=)
c.*254G= (n.*254G=)
c.1747G=
n.746G=
n.34G=
n.767G=
c.1607G= (p.Arg536=)
c.*1053G= (n.*1053G=)
c.1643G= (p.Arg548=)
n.261G=
n.479G=
c.394G= (n.394G=)
c.1154G= (p.Arg385=)
c.1916G= (p.Arg639=)
c.410G= (p.Arg137=)
16g.2070493G>TCA394272820TSC2c.*301G>T (n.*301G>T)
c.1799G>T (p.Arg600Leu)
c.1754G>T (p.Arg585Leu)
c.*1191G>T (n.*1191G>T)
c.*1359G>T (n.*1359G>T)
c.1787G>T (p.Arg596Leu)
c.411G>T
c.*1256G>T (n.*1256G>T)
c.*254G>T (n.*254G>T)
c.1747G>T
n.746G>T
n.34G>T
n.767G>T
c.1607G>T (p.Arg536Leu)
c.*1053G>T (n.*1053G>T)
c.1643G>T (p.Arg548Leu)
n.261G>T
n.479G>T
c.394G>T (n.394G>T)
c.1154G>T (p.Arg385Leu)
c.1916G>T (p.Arg639Leu)
c.410G>T (p.Arg137Leu)
 ClinVar
16g.2070497_2070498dupCA015660TSC2c.*305_*306dup (n.*305_*306dup)
c.1803_1804dup (p.Tyr602CysfsTer?)
c.1758_1759dup (p.Tyr587CysfsTer?)
c.*1195_*1196dup (n.*1195_*1196dup)
c.*1363_*1364dup (n.*1363_*1364dup)
c.1791_1792dup (p.Tyr598CysfsTer?)
c.415_416dup
c.*1260_*1261dup (n.*1260_*1261dup)
c.*258_*259dup (n.*258_*259dup)
c.1751_1752dup
n.750_751dup
n.38_39dup
n.771_772dup
c.1611_1612dup (p.Tyr538CysfsTer?)
c.*1057_*1058dup (n.*1057_*1058dup)
c.1647_1648dup (p.Tyr550CysfsTer?)
n.265_266dup
n.483_484dup
c.398_399dup (n.398_399dup)
c.1158_1159dup (p.Tyr387CysfsTer?)
c.1920_1921dup (p.Tyr641CysfsTer?)
c.414_415dup (p.Tyr139CysfsTer?)
 ClinVar dbSNP
16g.2070497_2070498delCA1139664303TSC2c.*305_*306del (n.*305_*306del)
c.1803_1804del (p.Tyr602Ter)
c.1758_1759del (p.Tyr587Ter)
c.*1195_*1196del (n.*1195_*1196del)
c.*1363_*1364del (n.*1363_*1364del)
c.1791_1792del (p.Tyr598Ter)
c.415_416del
c.*1260_*1261del (n.*1260_*1261del)
c.*258_*259del (n.*258_*259del)
c.1751_1752del
n.750_751del
n.38_39del
n.771_772del
c.1611_1612del (p.Tyr538Ter)
c.*1057_*1058del (n.*1057_*1058del)
c.1647_1648del (p.Tyr550Ter)
n.265_266del
n.483_484del
c.398_399del (n.398_399del)
c.1158_1159del (p.Tyr387Ter)
c.1920_1921del (p.Tyr641Ter)
c.414_415del (p.Tyr139Ter)
 ClinVar dbSNP
16g.2070495_2070498delCA2695221331TSC2c.*303_*306del (n.*303_*306del)
c.1801_1804del (p.Val601MetfsTer?)
c.1756_1759del (p.Val586MetfsTer?)
c.*1193_*1196del (n.*1193_*1196del)
c.*1361_*1364del (n.*1361_*1364del)
c.1789_1792del (p.Val597MetfsTer?)
c.413_416del
c.*1258_*1261del (n.*1258_*1261del)
c.*256_*259del (n.*256_*259del)
c.1749_1752del
n.748_751del
n.36_39del
n.769_772del
c.1609_1612del (p.Val537MetfsTer?)
c.*1055_*1058del (n.*1055_*1058del)
c.1645_1648del (p.Val549MetfsTer?)
n.263_266del
n.481_484del
c.396_399del (n.396_399del)
c.1156_1159del (p.Val386MetfsTer?)
c.1918_1921del (p.Val640MetfsTer?)
c.412_415del (p.Val138MetfsTer?)
16g.2070494T>ACA492949724TSC2c.*302T>A (n.*302T>A)
c.1800T>A (p.Arg600=)
c.1755T>A (p.Arg585=)
c.*1192T>A (n.*1192T>A)
c.*1360T>A (n.*1360T>A)
c.1788T>A (p.Arg596=)
c.412T>A
c.*1257T>A (n.*1257T>A)
c.*255T>A (n.*255T>A)
c.1748T>A
n.747T>A
n.35T>A
n.768T>A
c.1608T>A (p.Arg536=)
c.*1054T>A (n.*1054T>A)
c.1644T>A (p.Arg548=)
n.262T>A
n.480T>A
c.395T>A (n.395T>A)
c.1155T>A (p.Arg385=)
c.1917T>A (p.Arg639=)
c.411T>A (p.Arg137=)
 dbSNP
16g.2070494T>CCA033378TSC2c.*302T>C (n.*302T>C)
c.1800T>C (p.Arg600=)
c.1755T>C (p.Arg585=)
c.*1192T>C (n.*1192T>C)
c.*1360T>C (n.*1360T>C)
c.1788T>C (p.Arg596=)
c.412T>C
c.*1257T>C (n.*1257T>C)
c.*255T>C (n.*255T>C)
c.1748T>C
n.747T>C
n.35T>C
n.768T>C
c.1608T>C (p.Arg536=)
c.*1054T>C (n.*1054T>C)
c.1644T>C (p.Arg548=)
n.262T>C
n.480T>C
c.395T>C (n.395T>C)
c.1155T>C (p.Arg385=)
c.1917T>C (p.Arg639=)
c.411T>C (p.Arg137=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070494T>GCA492949725TSC2c.*302T>G (n.*302T>G)
c.1800T>G (p.Arg600=)
c.1755T>G (p.Arg585=)
c.*1192T>G (n.*1192T>G)
c.*1360T>G (n.*1360T>G)
c.1788T>G (p.Arg596=)
c.412T>G
c.*1257T>G (n.*1257T>G)
c.*255T>G (n.*255T>G)
c.1748T>G
n.747T>G
n.35T>G
n.768T>G
c.1608T>G (p.Arg536=)
c.*1054T>G (n.*1054T>G)
c.1644T>G (p.Arg548=)
n.262T>G
n.480T>G
c.395T>G (n.395T>G)
c.1155T>G (p.Arg385=)
c.1917T>G (p.Arg639=)
c.411T>G (p.Arg137=)
 dbSNP
16g.2070494T=CA2202017685TSC2c.*302T= (n.*302T=)
c.1800T= (p.Arg600=)
c.1755T= (p.Arg585=)
c.*1192T= (n.*1192T=)
c.*1360T= (n.*1360T=)
c.1788T= (p.Arg596=)
c.412T=
c.*1257T= (n.*1257T=)
c.*255T= (n.*255T=)
c.1748T=
n.747T=
n.35T=
n.768T=
c.1608T= (p.Arg536=)
c.*1054T= (n.*1054T=)
c.1644T= (p.Arg548=)
n.262T=
n.480T=
c.395T= (n.395T=)
c.1155T= (p.Arg385=)
c.1917T= (p.Arg639=)
c.411T= (p.Arg137=)
16g.2070495G>ACA033393TSC2c.*303G>A (n.*303G>A)
c.1801G>A (p.Val601Met)
c.1756G>A (p.Val586Met)
c.*1193G>A (n.*1193G>A)
c.*1361G>A (n.*1361G>A)
c.1789G>A (p.Val597Met)
c.413G>A
c.*1258G>A (n.*1258G>A)
c.*256G>A (n.*256G>A)
c.1749G>A
n.748G>A
n.36G>A
n.769G>A
c.1609G>A (p.Val537Met)
c.*1055G>A (n.*1055G>A)
c.1645G>A (p.Val549Met)
n.263G>A
n.481G>A
c.396G>A (n.396G>A)
c.1156G>A (p.Val386Met)
c.1918G>A (p.Val640Met)
c.412G>A (p.Val138Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070495G>CCA394272823TSC2c.*303G>C (n.*303G>C)
c.1801G>C (p.Val601Leu)
c.1756G>C (p.Val586Leu)
c.*1193G>C (n.*1193G>C)
c.*1361G>C (n.*1361G>C)
c.1789G>C (p.Val597Leu)
c.413G>C
c.*1258G>C (n.*1258G>C)
c.*256G>C (n.*256G>C)
c.1749G>C
n.748G>C
n.36G>C
n.769G>C
c.1609G>C (p.Val537Leu)
c.*1055G>C (n.*1055G>C)
c.1645G>C (p.Val549Leu)
n.263G>C
n.481G>C
c.396G>C (n.396G>C)
c.1156G>C (p.Val386Leu)
c.1918G>C (p.Val640Leu)
c.412G>C (p.Val138Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2070495G=CA2202017691TSC2c.*303G= (n.*303G=)
c.1801G= (p.Val601=)
c.1756G= (p.Val586=)
c.*1193G= (n.*1193G=)
c.*1361G= (n.*1361G=)
c.1789G= (p.Val597=)
c.413G=
c.*1258G= (n.*1258G=)
c.*256G= (n.*256G=)
c.1749G=
n.748G=
n.36G=
n.769G=
c.1609G= (p.Val537=)
c.*1055G= (n.*1055G=)
c.1645G= (p.Val549=)
n.263G=
n.481G=
c.396G= (n.396G=)
c.1156G= (p.Val386=)
c.1918G= (p.Val640=)
c.412G= (p.Val138=)
16g.2070495G>TCA394272824TSC2c.*303G>T (n.*303G>T)
c.1801G>T (p.Val601Leu)
c.1756G>T (p.Val586Leu)
c.*1193G>T (n.*1193G>T)
c.*1361G>T (n.*1361G>T)
c.1789G>T (p.Val597Leu)
c.413G>T
c.*1258G>T (n.*1258G>T)
c.*256G>T (n.*256G>T)
c.1749G>T
n.748G>T
n.36G>T
n.769G>T
c.1609G>T (p.Val537Leu)
c.*1055G>T (n.*1055G>T)
c.1645G>T (p.Val549Leu)
n.263G>T
n.481G>T
c.396G>T (n.396G>T)
c.1156G>T (p.Val386Leu)
c.1918G>T (p.Val640Leu)
c.412G>T (p.Val138Leu)
16g.2070496T>ACA394272827TSC2c.*304T>A (n.*304T>A)
c.1802T>A (p.Val601Glu)
c.1757T>A (p.Val586Glu)
c.*1194T>A (n.*1194T>A)
c.*1362T>A (n.*1362T>A)
c.1790T>A (p.Val597Glu)
c.414T>A
c.*1259T>A (n.*1259T>A)
c.*257T>A (n.*257T>A)
c.1750T>A
n.749T>A
n.37T>A
n.770T>A
c.1610T>A (p.Val537Glu)
c.*1056T>A (n.*1056T>A)
c.1646T>A (p.Val549Glu)
n.264T>A
n.482T>A
c.397T>A (n.397T>A)
c.1157T>A (p.Val386Glu)
c.1919T>A (p.Val640Glu)
c.413T>A (p.Val138Glu)
 ClinVar dbSNP
16g.2070496T>CCA394272828TSC2c.*304T>C (n.*304T>C)
c.1802T>C (p.Val601Ala)
c.1757T>C (p.Val586Ala)
c.*1194T>C (n.*1194T>C)
c.*1362T>C (n.*1362T>C)
c.1790T>C (p.Val597Ala)
c.414T>C
c.*1259T>C (n.*1259T>C)
c.*257T>C (n.*257T>C)
c.1750T>C
n.749T>C
n.37T>C
n.770T>C
c.1610T>C (p.Val537Ala)
c.*1056T>C (n.*1056T>C)
c.1646T>C (p.Val549Ala)
n.264T>C
n.482T>C
c.397T>C (n.397T>C)
c.1157T>C (p.Val386Ala)
c.1919T>C (p.Val640Ala)
c.413T>C (p.Val138Ala)
 ClinVar dbSNP
16g.2070496T>GCA394272831TSC2c.*304T>G (n.*304T>G)
c.1802T>G (p.Val601Gly)
c.1757T>G (p.Val586Gly)
c.*1194T>G (n.*1194T>G)
c.*1362T>G (n.*1362T>G)
c.1790T>G (p.Val597Gly)
c.414T>G
c.*1259T>G (n.*1259T>G)
c.*257T>G (n.*257T>G)
c.1750T>G
n.749T>G
n.37T>G
n.770T>G
c.1610T>G (p.Val537Gly)
c.*1056T>G (n.*1056T>G)
c.1646T>G (p.Val549Gly)
n.264T>G
n.482T>G
c.397T>G (n.397T>G)
c.1157T>G (p.Val386Gly)
c.1919T>G (p.Val640Gly)
c.413T>G (p.Val138Gly)
 ClinVar
16g.2070496T=CA2202017698TSC2c.*304T= (n.*304T=)
c.1802T= (p.Val601=)
c.1757T= (p.Val586=)
c.*1194T= (n.*1194T=)
c.*1362T= (n.*1362T=)
c.1790T= (p.Val597=)
c.414T=
c.*1259T= (n.*1259T=)
c.*257T= (n.*257T=)
c.1750T=
n.749T=
n.37T=
n.770T=
c.1610T= (p.Val537=)
c.*1056T= (n.*1056T=)
c.1646T= (p.Val549=)
n.264T=
n.482T=
c.397T= (n.397T=)
c.1157T= (p.Val386=)
c.1919T= (p.Val640=)
c.413T= (p.Val138=)
16g.2070497G>ACA492949729TSC2c.*305G>A (n.*305G>A)
c.1803G>A (p.Val601=)
c.1758G>A (p.Val586=)
c.*1195G>A (n.*1195G>A)
c.*1363G>A (n.*1363G>A)
c.1791G>A (p.Val597=)
c.415G>A
c.*1260G>A (n.*1260G>A)
c.*258G>A (n.*258G>A)
c.1751G>A
n.750G>A
n.38G>A
n.771G>A
c.1611G>A (p.Val537=)
c.*1057G>A (n.*1057G>A)
c.1647G>A (p.Val549=)
n.265G>A
n.483G>A
c.398G>A (n.398G>A)
c.1158G>A (p.Val386=)
c.1920G>A (p.Val640=)
c.414G>A (p.Val138=)
 ClinVar dbSNP
16g.2070497G>CCA492949731TSC2c.*305G>C (n.*305G>C)
c.1803G>C (p.Val601=)
c.1758G>C (p.Val586=)
c.*1195G>C (n.*1195G>C)
c.*1363G>C (n.*1363G>C)
c.1791G>C (p.Val597=)
c.415G>C
c.*1260G>C (n.*1260G>C)
c.*258G>C (n.*258G>C)
c.1751G>C
n.750G>C
n.38G>C
n.771G>C
c.1611G>C (p.Val537=)
c.*1057G>C (n.*1057G>C)
c.1647G>C (p.Val549=)
n.265G>C
n.483G>C
c.398G>C (n.398G>C)
c.1158G>C (p.Val386=)
c.1920G>C (p.Val640=)
c.414G>C (p.Val138=)
 dbSNP
16g.2070497G=CA2202017707TSC2c.*305G= (n.*305G=)
c.1803G= (p.Val601=)
c.1758G= (p.Val586=)
c.*1195G= (n.*1195G=)
c.*1363G= (n.*1363G=)
c.1791G= (p.Val597=)
c.415G=
c.*1260G= (n.*1260G=)
c.*258G= (n.*258G=)
c.1751G=
n.750G=
n.38G=
n.771G=
c.1611G= (p.Val537=)
c.*1057G= (n.*1057G=)
c.1647G= (p.Val549=)
n.265G=
n.483G=
c.398G= (n.398G=)
c.1158G= (p.Val386=)
c.1920G= (p.Val640=)
c.414G= (p.Val138=)
16g.2070497G>TCA492949733TSC2c.*305G>T (n.*305G>T)
c.1803G>T (p.Val601=)
c.1758G>T (p.Val586=)
c.*1195G>T (n.*1195G>T)
c.*1363G>T (n.*1363G>T)
c.1791G>T (p.Val597=)
c.415G>T
c.*1260G>T (n.*1260G>T)
c.*258G>T (n.*258G>T)
c.1751G>T
n.750G>T
n.38G>T
n.771G>T
c.1611G>T (p.Val537=)
c.*1057G>T (n.*1057G>T)
c.1647G>T (p.Val549=)
n.265G>T
n.483G>T
c.398G>T (n.398G>T)
c.1158G>T (p.Val386=)
c.1920G>T (p.Val640=)
c.414G>T (p.Val138=)
 ClinVar dbSNP
16g.2070497_2070499delinsGTACA2202017705TSC2c.*305_*307delinsGTA (n.*305_*307delinsGTA)
c.1803_1805delinsGTA (p.Val601=)
c.1758_1760delinsGTA (p.Val586=)
c.*1195_*1197delinsGTA (n.*1195_*1197delinsGTA)
c.*1363_*1365delinsGTA (n.*1363_*1365delinsGTA)
c.1791_1793delinsGTA (p.Val597=)
c.415_417delinsGTA
c.*1260_*1262delinsGTA (n.*1260_*1262delinsGTA)
c.*258_*260delinsGTA (n.*258_*260delinsGTA)
c.1751_1753delinsGTA
n.750_752delinsGTA
n.38_40delinsGTA
n.771_773delinsGTA
c.1611_1613delinsGTA (p.Val537=)
c.*1057_*1059delinsGTA (n.*1057_*1059delinsGTA)
c.1647_1649delinsGTA (p.Val549=)
n.265_267delinsGTA
n.483_485delinsGTA
c.398_400delinsGTA (n.398_400delinsGTA)
c.1158_1160delinsGTA (p.Val386=)
c.1920_1922delinsGTA (p.Val640=)
c.414_416delinsGTA (p.Val138=)
16g.2070498T>ACA394272840TSC2c.*306T>A (n.*306T>A)
c.1804T>A (p.Tyr602Asn)
c.1759T>A (p.Tyr587Asn)
c.*1196T>A (n.*1196T>A)
c.*1364T>A (n.*1364T>A)
c.1792T>A (p.Tyr598Asn)
c.416T>A
c.*1261T>A (n.*1261T>A)
c.*259T>A (n.*259T>A)
c.1752T>A
n.751T>A
n.39T>A
n.772T>A
c.1612T>A (p.Tyr538Asn)
c.*1058T>A (n.*1058T>A)
c.1648T>A (p.Tyr550Asn)
n.266T>A
n.484T>A
c.399T>A (n.399T>A)
c.1159T>A (p.Tyr387Asn)
c.1921T>A (p.Tyr641Asn)
c.415T>A (p.Tyr139Asn)
 dbSNP
16g.2070498T>CCA394272833TSC2c.*306T>C (n.*306T>C)
c.1804T>C (p.Tyr602His)
c.1759T>C (p.Tyr587His)
c.*1196T>C (n.*1196T>C)
c.*1364T>C (n.*1364T>C)
c.1792T>C (p.Tyr598His)
c.416T>C
c.*1261T>C (n.*1261T>C)
c.*259T>C (n.*259T>C)
c.1752T>C
n.751T>C
n.39T>C
n.772T>C
c.1612T>C (p.Tyr538His)
c.*1058T>C (n.*1058T>C)
c.1648T>C (p.Tyr550His)
n.266T>C
n.484T>C
c.399T>C (n.399T>C)
c.1159T>C (p.Tyr387His)
c.1921T>C (p.Tyr641His)
c.415T>C (p.Tyr139His)
 ClinVar dbSNP gnomAD v4
16g.2070498T>GCA394272836TSC2c.*306T>G (n.*306T>G)
c.1804T>G (p.Tyr602Asp)
c.1759T>G (p.Tyr587Asp)
c.*1196T>G (n.*1196T>G)
c.*1364T>G (n.*1364T>G)
c.1792T>G (p.Tyr598Asp)
c.416T>G
c.*1261T>G (n.*1261T>G)
c.*259T>G (n.*259T>G)
c.1752T>G
n.751T>G
n.39T>G
n.772T>G
c.1612T>G (p.Tyr538Asp)
c.*1058T>G (n.*1058T>G)
c.1648T>G (p.Tyr550Asp)
n.266T>G
n.484T>G
c.399T>G (n.399T>G)
c.1159T>G (p.Tyr387Asp)
c.1921T>G (p.Tyr641Asp)
c.415T>G (p.Tyr139Asp)
 dbSNP
16g.2070498T=CA2202017719TSC2c.*306T= (n.*306T=)
c.1804T= (p.Tyr602=)
c.1759T= (p.Tyr587=)
c.*1196T= (n.*1196T=)
c.*1364T= (n.*1364T=)
c.1792T= (p.Tyr598=)
c.416T=
c.*1261T= (n.*1261T=)
c.*259T= (n.*259T=)
c.1752T=
n.751T=
n.39T=
n.772T=
c.1612T= (p.Tyr538=)
c.*1058T= (n.*1058T=)
c.1648T= (p.Tyr550=)
n.266T=
n.484T=
c.399T= (n.399T=)
c.1159T= (p.Tyr387=)
c.1921T= (p.Tyr641=)
c.415T= (p.Tyr139=)
16g.2070499_2070500delCA015668TSC2c.*307_*308del (n.*307_*308del)
c.1805_1806del (p.Tyr602Ter)
c.1760_1761del (p.Tyr587Ter)
c.*1197_*1198del (n.*1197_*1198del)
c.*1365_*1366del (n.*1365_*1366del)
c.1793_1794del (p.Tyr598Ter)
c.417_418del
c.*1262_*1263del (n.*1262_*1263del)
c.*260_*261del (n.*260_*261del)
c.1753_1754del
n.752_753del
n.40_41del
n.773_774del
c.1613_1614del (p.Tyr538Ter)
c.*1059_*1060del (n.*1059_*1060del)
c.1649_1650del (p.Tyr550Ter)
n.267_268del
n.485_486del
c.400_401del (n.400_401del)
c.1160_1161del (p.Tyr387Ter)
c.1922_1923del (p.Tyr641Ter)
c.416_417del (p.Tyr139Ter)
 ClinVar dbSNP
16g.2070499A=CA2202017723TSC2c.*307A= (n.*307A=)
c.1805A= (p.Tyr602=)
c.1760A= (p.Tyr587=)
c.*1197A= (n.*1197A=)
c.*1365A= (n.*1365A=)
c.1793A= (p.Tyr598=)
c.417A=
c.*1262A= (n.*1262A=)
c.*260A= (n.*260A=)
c.1753A=
n.752A=
n.40A=
n.773A=
c.1613A= (p.Tyr538=)
c.*1059A= (n.*1059A=)
c.1649A= (p.Tyr550=)
n.267A=
n.485A=
c.400A= (n.400A=)
c.1160A= (p.Tyr387=)
c.1922A= (p.Tyr641=)
c.416A= (p.Tyr139=)
16g.2070499A>CCA394272842TSC2c.*307A>C (n.*307A>C)
c.1805A>C (p.Tyr602Ser)
c.1760A>C (p.Tyr587Ser)
c.*1197A>C (n.*1197A>C)
c.*1365A>C (n.*1365A>C)
c.1793A>C (p.Tyr598Ser)
c.417A>C
c.*1262A>C (n.*1262A>C)
c.*260A>C (n.*260A>C)
c.1753A>C
n.752A>C
n.40A>C
n.773A>C
c.1613A>C (p.Tyr538Ser)
c.*1059A>C (n.*1059A>C)
c.1649A>C (p.Tyr550Ser)
n.267A>C
n.485A>C
c.400A>C (n.400A>C)
c.1160A>C (p.Tyr387Ser)
c.1922A>C (p.Tyr641Ser)
c.416A>C (p.Tyr139Ser)
16g.2070499A>GCA394272845TSC2c.*307A>G (n.*307A>G)
c.1805A>G (p.Tyr602Cys)
c.1760A>G (p.Tyr587Cys)
c.*1197A>G (n.*1197A>G)
c.*1365A>G (n.*1365A>G)
c.1793A>G (p.Tyr598Cys)
c.417A>G
c.*1262A>G (n.*1262A>G)
c.*260A>G (n.*260A>G)
c.1753A>G
n.752A>G
n.40A>G
n.773A>G
c.1613A>G (p.Tyr538Cys)
c.*1059A>G (n.*1059A>G)
c.1649A>G (p.Tyr550Cys)
n.267A>G
n.485A>G
c.400A>G (n.400A>G)
c.1160A>G (p.Tyr387Cys)
c.1922A>G (p.Tyr641Cys)
c.416A>G (p.Tyr139Cys)
 ClinVar dbSNP gnomAD v4
16g.2070499A>TCA394272847TSC2c.*307A>T (n.*307A>T)
c.1805A>T (p.Tyr602Phe)
c.1760A>T (p.Tyr587Phe)
c.*1197A>T (n.*1197A>T)
c.*1365A>T (n.*1365A>T)
c.1793A>T (p.Tyr598Phe)
c.417A>T
c.*1262A>T (n.*1262A>T)
c.*260A>T (n.*260A>T)
c.1753A>T
n.752A>T
n.40A>T
n.773A>T
c.1613A>T (p.Tyr538Phe)
c.*1059A>T (n.*1059A>T)
c.1649A>T (p.Tyr550Phe)
n.267A>T
n.485A>T
c.400A>T (n.400A>T)
c.1160A>T (p.Tyr387Phe)
c.1922A>T (p.Tyr641Phe)
c.416A>T (p.Tyr139Phe)
 dbSNP
16g.2070500T>ACA394272849TSC2c.*308T>A (n.*308T>A)
c.1806T>A (p.Tyr602Ter)
c.1761T>A (p.Tyr587Ter)
c.*1198T>A (n.*1198T>A)
c.*1366T>A (n.*1366T>A)
c.1794T>A (p.Tyr598Ter)
c.418T>A
c.*1263T>A (n.*1263T>A)
c.*261T>A (n.*261T>A)
c.1754T>A
n.753T>A
n.41T>A
n.774T>A
c.1614T>A (p.Tyr538Ter)
c.*1060T>A (n.*1060T>A)
c.1650T>A (p.Tyr550Ter)
n.268T>A
n.486T>A
c.401T>A (n.401T>A)
c.1161T>A (p.Tyr387Ter)
c.1923T>A (p.Tyr641Ter)
c.417T>A (p.Tyr139Ter)
 dbSNP
16g.2070500T>CCA033412TSC2c.*308T>C (n.*308T>C)
c.1806T>C (p.Tyr602=)
c.1761T>C (p.Tyr587=)
c.*1198T>C (n.*1198T>C)
c.*1366T>C (n.*1366T>C)
c.1794T>C (p.Tyr598=)
c.418T>C
c.*1263T>C (n.*1263T>C)
c.*261T>C (n.*261T>C)
c.1754T>C
n.753T>C
n.41T>C
n.774T>C
c.1614T>C (p.Tyr538=)
c.*1060T>C (n.*1060T>C)
c.1650T>C (p.Tyr550=)
n.268T>C
n.486T>C
c.401T>C (n.401T>C)
c.1161T>C (p.Tyr387=)
c.1923T>C (p.Tyr641=)
c.417T>C (p.Tyr139=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070500T>GCA394272854TSC2c.*308T>G (n.*308T>G)
c.1806T>G (p.Tyr602Ter)
c.1761T>G (p.Tyr587Ter)
c.*1198T>G (n.*1198T>G)
c.*1366T>G (n.*1366T>G)
c.1794T>G (p.Tyr598Ter)
c.418T>G
c.*1263T>G (n.*1263T>G)
c.*261T>G (n.*261T>G)
c.1754T>G
n.753T>G
n.41T>G
n.774T>G
c.1614T>G (p.Tyr538Ter)
c.*1060T>G (n.*1060T>G)
c.1650T>G (p.Tyr550Ter)
n.268T>G
n.486T>G
c.401T>G (n.401T>G)
c.1161T>G (p.Tyr387Ter)
c.1923T>G (p.Tyr641Ter)
c.417T>G (p.Tyr139Ter)
 ClinVar dbSNP gnomAD v4
16g.2070500T=CA2202017734TSC2c.*308T= (n.*308T=)
c.1806T= (p.Tyr602=)
c.1761T= (p.Tyr587=)
c.*1198T= (n.*1198T=)
c.*1366T= (n.*1366T=)
c.1794T= (p.Tyr598=)
c.418T=
c.*1263T= (n.*1263T=)
c.*261T= (n.*261T=)
c.1754T=
n.753T=
n.41T=
n.774T=
c.1614T= (p.Tyr538=)
c.*1060T= (n.*1060T=)
c.1650T= (p.Tyr550=)
n.268T=
n.486T=
c.401T= (n.401T=)
c.1161T= (p.Tyr387=)
c.1923T= (p.Tyr641=)
c.417T= (p.Tyr139=)
16g.2070500_2070502delinsTGACA2202017739TSC2c.*308_*310delinsTGA (n.*308_*310delinsTGA)
c.1806_1808delinsTGA (p.Tyr602=)
c.1761_1763delinsTGA (p.Tyr587=)
c.*1198_*1200delinsTGA (n.*1198_*1200delinsTGA)
c.*1366_*1368delinsTGA (n.*1366_*1368delinsTGA)
c.1794_1796delinsTGA (p.Tyr598=)
c.418_420delinsTGA
c.*1263_*1265delinsTGA (n.*1263_*1265delinsTGA)
c.*261_*263delinsTGA (n.*261_*263delinsTGA)
c.1754_1756delinsTGA
n.753_755delinsTGA
n.41_43delinsTGA
n.774_776delinsTGA
c.1614_1616delinsTGA (p.Tyr538=)
c.*1060_*1062delinsTGA (n.*1060_*1062delinsTGA)
c.1650_1652delinsTGA (p.Tyr550=)
n.268_270delinsTGA
n.486_488delinsTGA
c.401_403delinsTGA (n.401_403delinsTGA)
c.1161_1163delinsTGA (p.Tyr387=)
c.1923_1925delinsTGA (p.Tyr641=)
c.417_419delinsTGA (p.Tyr139=)
16g.2070501G>ACA394272856TSC2c.*309G>A (n.*309G>A)
c.1807G>A (p.Glu603Lys)
c.1762G>A (p.Glu588Lys)
c.*1199G>A (n.*1199G>A)
c.*1367G>A (n.*1367G>A)
c.1795G>A (p.Glu599Lys)
c.419G>A
c.*1264G>A (n.*1264G>A)
c.*262G>A (n.*262G>A)
c.1755G>A
n.754G>A
n.42G>A
n.775G>A
c.1615G>A (p.Glu539Lys)
c.*1061G>A (n.*1061G>A)
c.1651G>A (p.Glu551Lys)
n.269G>A
n.487G>A
c.402G>A (n.402G>A)
c.1162G>A (p.Glu388Lys)
c.1924G>A (p.Glu642Lys)
c.418G>A (p.Glu140Lys)
 ClinVar dbSNP
16g.2070501G>CCA394272858TSC2c.*309G>C (n.*309G>C)
c.1807G>C (p.Glu603Gln)
c.1762G>C (p.Glu588Gln)
c.*1199G>C (n.*1199G>C)
c.*1367G>C (n.*1367G>C)
c.1795G>C (p.Glu599Gln)
c.419G>C
c.*1264G>C (n.*1264G>C)
c.*262G>C (n.*262G>C)
c.1755G>C
n.754G>C
n.42G>C
n.775G>C
c.1615G>C (p.Glu539Gln)
c.*1061G>C (n.*1061G>C)
c.1651G>C (p.Glu551Gln)
n.269G>C
n.487G>C
c.402G>C (n.402G>C)
c.1162G>C (p.Glu388Gln)
c.1924G>C (p.Glu642Gln)
c.418G>C (p.Glu140Gln)
 dbSNP
16g.2070501G=CA2202017747TSC2c.*309G= (n.*309G=)
c.1807G= (p.Glu603=)
c.1762G= (p.Glu588=)
c.*1199G= (n.*1199G=)
c.*1367G= (n.*1367G=)
c.1795G= (p.Glu599=)
c.419G=
c.*1264G= (n.*1264G=)
c.*262G= (n.*262G=)
c.1755G=
n.754G=
n.42G=
n.775G=
c.1615G= (p.Glu539=)
c.*1061G= (n.*1061G=)
c.1651G= (p.Glu551=)
n.269G=
n.487G=
c.402G= (n.402G=)
c.1162G= (p.Glu388=)
c.1924G= (p.Glu642=)
c.418G= (p.Glu140=)
16g.2070501G>TCA394272860TSC2c.*309G>T (n.*309G>T)
c.1807G>T (p.Glu603Ter)
c.1762G>T (p.Glu588Ter)
c.*1199G>T (n.*1199G>T)
c.*1367G>T (n.*1367G>T)
c.1795G>T (p.Glu599Ter)
c.419G>T
c.*1264G>T (n.*1264G>T)
c.*262G>T (n.*262G>T)
c.1755G>T
n.754G>T
n.42G>T
n.775G>T
c.1615G>T (p.Glu539Ter)
c.*1061G>T (n.*1061G>T)
c.1651G>T (p.Glu551Ter)
n.269G>T
n.487G>T
c.402G>T (n.402G>T)
c.1162G>T (p.Glu388Ter)
c.1924G>T (p.Glu642Ter)
c.418G>T (p.Glu140Ter)
 ClinVar dbSNP
16g.2070503_2070504delCA658658366TSC2c.*311_*312del (n.*311_*312del)
c.1809_1810del (p.Glu603AspfsTer28)
c.1764_1765del (p.Glu588AspfsTer28)
c.*1201_*1202del (n.*1201_*1202del)
c.*1369_*1370del (n.*1369_*1370del)
c.1797_1798del (p.Glu599AspfsTer28)
c.421_422del
c.*1266_*1267del (n.*1266_*1267del)
c.*264_*265del (n.*264_*265del)
c.1757_1758del
n.756_757del
n.44_45del
n.777_778del
c.1617_1618del (p.Glu539AspfsTer28)
c.*1063_*1064del (n.*1063_*1064del)
c.1653_1654del (p.Glu551AspfsTer28)
n.271_272del
n.489_490del
c.404_405del (n.404_405del)
c.1164_1165del (p.Glu388AspfsTer28)
c.1926_1927del (p.Glu642AspfsTer28)
c.420_421del (p.Glu140AspfsTer28)
 ClinVar dbSNP
16g.2070502A>CCA394272866TSC2c.*310A>C (n.*310A>C)
c.1808A>C (p.Glu603Ala)
c.1763A>C (p.Glu588Ala)
c.*1200A>C (n.*1200A>C)
c.*1368A>C (n.*1368A>C)
c.1796A>C (p.Glu599Ala)
c.420A>C
c.*1265A>C (n.*1265A>C)
c.*263A>C (n.*263A>C)
c.1756A>C
n.755A>C
n.43A>C
n.776A>C
c.1616A>C (p.Glu539Ala)
c.*1062A>C (n.*1062A>C)
c.1652A>C (p.Glu551Ala)
n.270A>C
n.488A>C
c.403A>C (n.403A>C)
c.1163A>C (p.Glu388Ala)
c.1925A>C (p.Glu642Ala)
c.419A>C (p.Glu140Ala)
16g.2070502A>GCA394272863TSC2c.*310A>G (n.*310A>G)
c.1808A>G (p.Glu603Gly)
c.1763A>G (p.Glu588Gly)
c.*1200A>G (n.*1200A>G)
c.*1368A>G (n.*1368A>G)
c.1796A>G (p.Glu599Gly)
c.420A>G
c.*1265A>G (n.*1265A>G)
c.*263A>G (n.*263A>G)
c.1756A>G
n.755A>G
n.43A>G
n.776A>G
c.1616A>G (p.Glu539Gly)
c.*1062A>G (n.*1062A>G)
c.1652A>G (p.Glu551Gly)
n.270A>G
n.488A>G
c.403A>G (n.403A>G)
c.1163A>G (p.Glu388Gly)
c.1925A>G (p.Glu642Gly)
c.419A>G (p.Glu140Gly)
 ClinVar dbSNP
16g.2070502A>TCA394272864TSC2c.*310A>T (n.*310A>T)
c.1808A>T (p.Glu603Val)
c.1763A>T (p.Glu588Val)
c.*1200A>T (n.*1200A>T)
c.*1368A>T (n.*1368A>T)
c.1796A>T (p.Glu599Val)
c.420A>T
c.*1265A>T (n.*1265A>T)
c.*263A>T (n.*263A>T)
c.1756A>T
n.755A>T
n.43A>T
n.776A>T
c.1616A>T (p.Glu539Val)
c.*1062A>T (n.*1062A>T)
c.1652A>T (p.Glu551Val)
n.270A>T
n.488A>T
c.403A>T (n.403A>T)
c.1163A>T (p.Glu388Val)
c.1925A>T (p.Glu642Val)
c.419A>T (p.Glu140Val)
 ClinVar dbSNP
16g.2070503G>ACA492949739TSC2c.*311G>A (n.*311G>A)
c.1809G>A (p.Glu603=)
c.1764G>A (p.Glu588=)
c.*1201G>A (n.*1201G>A)
c.*1369G>A (n.*1369G>A)
c.1797G>A (p.Glu599=)
c.421G>A
c.*1266G>A (n.*1266G>A)
c.*264G>A (n.*264G>A)
c.1757G>A
n.756G>A
n.44G>A
n.777G>A
c.1617G>A (p.Glu539=)
c.*1063G>A (n.*1063G>A)
c.1653G>A (p.Glu551=)
n.271G>A
n.489G>A
c.404G>A (n.404G>A)
c.1164G>A (p.Glu388=)
c.1926G>A (p.Glu642=)
c.420G>A (p.Glu140=)
 ClinVar dbSNP
16g.2070503G>CCA394272867TSC2c.*311G>C (n.*311G>C)
c.1809G>C (p.Glu603Asp)
c.1764G>C (p.Glu588Asp)
c.*1201G>C (n.*1201G>C)
c.*1369G>C (n.*1369G>C)
c.1797G>C (p.Glu599Asp)
c.421G>C
c.*1266G>C (n.*1266G>C)
c.*264G>C (n.*264G>C)
c.1757G>C
n.756G>C
n.44G>C
n.777G>C
c.1617G>C (p.Glu539Asp)
c.*1063G>C (n.*1063G>C)
c.1653G>C (p.Glu551Asp)
n.271G>C
n.489G>C
c.404G>C (n.404G>C)
c.1164G>C (p.Glu388Asp)
c.1926G>C (p.Glu642Asp)
c.420G>C (p.Glu140Asp)
 ClinVar dbSNP gnomAD v4
16g.2070503G=CA2202017750TSC2c.*311G= (n.*311G=)
c.1809G= (p.Glu603=)
c.1764G= (p.Glu588=)
c.*1201G= (n.*1201G=)
c.*1369G= (n.*1369G=)
c.1797G= (p.Glu599=)
c.421G=
c.*1266G= (n.*1266G=)
c.*264G= (n.*264G=)
c.1757G=
n.756G=
n.44G=
n.777G=
c.1617G= (p.Glu539=)
c.*1063G= (n.*1063G=)
c.1653G= (p.Glu551=)
n.271G=
n.489G=
c.404G= (n.404G=)
c.1164G= (p.Glu388=)
c.1926G= (p.Glu642=)
c.420G= (p.Glu140=)
16g.2070503G>TCA394272868TSC2c.*311G>T (n.*311G>T)
c.1809G>T (p.Glu603Asp)
c.1764G>T (p.Glu588Asp)
c.*1201G>T (n.*1201G>T)
c.*1369G>T (n.*1369G>T)
c.1797G>T (p.Glu599Asp)
c.421G>T
c.*1266G>T (n.*1266G>T)
c.*264G>T (n.*264G>T)
c.1757G>T
n.756G>T
n.44G>T
n.777G>T
c.1617G>T (p.Glu539Asp)
c.*1063G>T (n.*1063G>T)
c.1653G>T (p.Glu551Asp)
n.271G>T
n.489G>T
c.404G>T (n.404G>T)
c.1164G>T (p.Glu388Asp)
c.1926G>T (p.Glu642Asp)
c.420G>T (p.Glu140Asp)
16g.2070504A=CA2202017752TSC2c.*312A= (n.*312A=)
c.1810A= (p.Met604=)
c.1765A= (p.Met589=)
c.*1202A= (n.*1202A=)
c.*1370A= (n.*1370A=)
c.1798A= (p.Met600=)
c.422A=
c.*1267A= (n.*1267A=)
c.*265A= (n.*265A=)
c.1758A=
n.757A=
n.45A=
n.778A=
c.1618A= (p.Met540=)
c.*1064A= (n.*1064A=)
c.1654A= (p.Met552=)
n.272A=
n.490A=
c.405A= (n.405A=)
c.1165A= (p.Met389=)
c.1927A= (p.Met643=)
c.421A= (p.Met141=)
16g.2070504A>CCA394272869TSC2c.*312A>C (n.*312A>C)
c.1810A>C (p.Met604Leu)
c.1765A>C (p.Met589Leu)
c.*1202A>C (n.*1202A>C)
c.*1370A>C (n.*1370A>C)
c.1798A>C (p.Met600Leu)
c.422A>C
c.*1267A>C (n.*1267A>C)
c.*265A>C (n.*265A>C)
c.1758A>C
n.757A>C
n.45A>C
n.778A>C
c.1618A>C (p.Met540Leu)
c.*1064A>C (n.*1064A>C)
c.1654A>C (p.Met552Leu)
n.272A>C
n.490A>C
c.405A>C (n.405A>C)
c.1165A>C (p.Met389Leu)
c.1927A>C (p.Met643Leu)
c.421A>C (p.Met141Leu)
16g.2070504A>GCA394272870TSC2c.*312A>G (n.*312A>G)
c.1810A>G (p.Met604Val)
c.1765A>G (p.Met589Val)
c.*1202A>G (n.*1202A>G)
c.*1370A>G (n.*1370A>G)
c.1798A>G (p.Met600Val)
c.422A>G
c.*1267A>G (n.*1267A>G)
c.*265A>G (n.*265A>G)
c.1758A>G
n.757A>G
n.45A>G
n.778A>G
c.1618A>G (p.Met540Val)
c.*1064A>G (n.*1064A>G)
c.1654A>G (p.Met552Val)
n.272A>G
n.490A>G
c.405A>G (n.405A>G)
c.1165A>G (p.Met389Val)
c.1927A>G (p.Met643Val)
c.421A>G (p.Met141Val)
 ClinVar dbSNP gnomAD v4
16g.2070504A>TCA394272872TSC2c.*312A>T (n.*312A>T)
c.1810A>T (p.Met604Leu)
c.1765A>T (p.Met589Leu)
c.*1202A>T (n.*1202A>T)
c.*1370A>T (n.*1370A>T)
c.1798A>T (p.Met600Leu)
c.422A>T
c.*1267A>T (n.*1267A>T)
c.*265A>T (n.*265A>T)
c.1758A>T
n.757A>T
n.45A>T
n.778A>T
c.1618A>T (p.Met540Leu)
c.*1064A>T (n.*1064A>T)
c.1654A>T (p.Met552Leu)
n.272A>T
n.490A>T
c.405A>T (n.405A>T)
c.1165A>T (p.Met389Leu)
c.1927A>T (p.Met643Leu)
c.421A>T (p.Met141Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2070505T>ACA319456TSC2c.*313T>A (n.*313T>A)
c.1811T>A (p.Met604Lys)
c.1766T>A (p.Met589Lys)
c.*1203T>A (n.*1203T>A)
c.*1371T>A (n.*1371T>A)
c.1799T>A (p.Met600Lys)
c.423T>A
c.*1268T>A (n.*1268T>A)
c.*266T>A (n.*266T>A)
c.1759T>A
n.758T>A
n.46T>A
n.779T>A
c.1619T>A (p.Met540Lys)
c.*1065T>A (n.*1065T>A)
c.1655T>A (p.Met552Lys)
n.273T>A
n.491T>A
c.406T>A (n.406T>A)
c.1166T>A (p.Met389Lys)
c.1928T>A (p.Met643Lys)
c.422T>A (p.Met141Lys)
 ClinVar dbSNP
16g.2070505T>CCA394272876TSC2c.*313T>C (n.*313T>C)
c.1811T>C (p.Met604Thr)
c.1766T>C (p.Met589Thr)
c.*1203T>C (n.*1203T>C)
c.*1371T>C (n.*1371T>C)
c.1799T>C (p.Met600Thr)
c.423T>C
c.*1268T>C (n.*1268T>C)
c.*266T>C (n.*266T>C)
c.1759T>C
n.758T>C
n.46T>C
n.779T>C
c.1619T>C (p.Met540Thr)
c.*1065T>C (n.*1065T>C)
c.1655T>C (p.Met552Thr)
n.273T>C
n.491T>C
c.406T>C (n.406T>C)
c.1166T>C (p.Met389Thr)
c.1928T>C (p.Met643Thr)
c.422T>C (p.Met141Thr)
 ClinVar dbSNP
16g.2070505T>GCA394272878TSC2c.*313T>G (n.*313T>G)
c.1811T>G (p.Met604Arg)
c.1766T>G (p.Met589Arg)
c.*1203T>G (n.*1203T>G)
c.*1371T>G (n.*1371T>G)
c.1799T>G (p.Met600Arg)
c.423T>G
c.*1268T>G (n.*1268T>G)
c.*266T>G (n.*266T>G)
c.1759T>G
n.758T>G
n.46T>G
n.779T>G
c.1619T>G (p.Met540Arg)
c.*1065T>G (n.*1065T>G)
c.1655T>G (p.Met552Arg)
n.273T>G
n.491T>G
c.406T>G (n.406T>G)
c.1166T>G (p.Met389Arg)
c.1928T>G (p.Met643Arg)
c.422T>G (p.Met141Arg)
 ClinVar dbSNP
16g.2070505T=CA2202017757TSC2c.*313T= (n.*313T=)
c.1811T= (p.Met604=)
c.1766T= (p.Met589=)
c.*1203T= (n.*1203T=)
c.*1371T= (n.*1371T=)
c.1799T= (p.Met600=)
c.423T=
c.*1268T= (n.*1268T=)
c.*266T= (n.*266T=)
c.1759T=
n.758T=
n.46T=
n.779T=
c.1619T= (p.Met540=)
c.*1065T= (n.*1065T=)
c.1655T= (p.Met552=)
n.273T=
n.491T=
c.406T= (n.406T=)
c.1166T= (p.Met389=)
c.1928T= (p.Met643=)
c.422T= (p.Met141=)
16g.2070506G>ACA394272880TSC2c.*314G>A (n.*314G>A)
c.1812G>A (p.Met604Ile)
c.1767G>A (p.Met589Ile)
c.*1204G>A (n.*1204G>A)
c.*1372G>A (n.*1372G>A)
c.1800G>A (p.Met600Ile)
c.424G>A
c.*1269G>A (n.*1269G>A)
c.*267G>A (n.*267G>A)
c.1760G>A
n.759G>A
n.47G>A
n.780G>A
c.1620G>A (p.Met540Ile)
c.*1066G>A (n.*1066G>A)
c.1656G>A (p.Met552Ile)
n.274G>A
n.492G>A
c.407G>A (n.407G>A)
c.1167G>A (p.Met389Ile)
c.1929G>A (p.Met643Ile)
c.423G>A (p.Met141Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2070506G>CCA394272881TSC2c.*314G>C (n.*314G>C)
c.1812G>C (p.Met604Ile)
c.1767G>C (p.Met589Ile)
c.*1204G>C (n.*1204G>C)
c.*1372G>C (n.*1372G>C)
c.1800G>C (p.Met600Ile)
c.424G>C
c.*1269G>C (n.*1269G>C)
c.*267G>C (n.*267G>C)
c.1760G>C
n.759G>C
n.47G>C
n.780G>C
c.1620G>C (p.Met540Ile)
c.*1066G>C (n.*1066G>C)
c.1656G>C (p.Met552Ile)
n.274G>C
n.492G>C
c.407G>C (n.407G>C)
c.1167G>C (p.Met389Ile)
c.1929G>C (p.Met643Ile)
c.423G>C (p.Met141Ile)
 ClinVar
16g.2070506G=CA2202017759TSC2c.*314G= (n.*314G=)
c.1812G= (p.Met604=)
c.1767G= (p.Met589=)
c.*1204G= (n.*1204G=)
c.*1372G= (n.*1372G=)
c.1800G= (p.Met600=)
c.424G=
c.*1269G= (n.*1269G=)
c.*267G= (n.*267G=)
c.1760G=
n.759G=
n.47G=
n.780G=
c.1620G= (p.Met540=)
c.*1066G= (n.*1066G=)
c.1656G= (p.Met552=)
n.274G=
n.492G=
c.407G= (n.407G=)
c.1167G= (p.Met389=)
c.1929G= (p.Met643=)
c.423G= (p.Met141=)
16g.2070506G>TCA394272882TSC2c.*314G>T (n.*314G>T)
c.1812G>T (p.Met604Ile)
c.1767G>T (p.Met589Ile)
c.*1204G>T (n.*1204G>T)
c.*1372G>T (n.*1372G>T)
c.1800G>T (p.Met600Ile)
c.424G>T
c.*1269G>T (n.*1269G>T)
c.*267G>T (n.*267G>T)
c.1760G>T
n.759G>T
n.47G>T
n.780G>T
c.1620G>T (p.Met540Ile)
c.*1066G>T (n.*1066G>T)
c.1656G>T (p.Met552Ile)
n.274G>T
n.492G>T
c.407G>T (n.407G>T)
c.1167G>T (p.Met389Ile)
c.1929G>T (p.Met643Ile)
c.423G>T (p.Met141Ile)
16g.2070506_2070508delinsGCTCA2202017760TSC2c.*314_*316delinsGCT (n.*314_*316delinsGCT)
c.1812_1814delinsGCT (p.Met604=)
c.1767_1769delinsGCT (p.Met589=)
c.*1204_*1206delinsGCT (n.*1204_*1206delinsGCT)
c.*1372_*1374delinsGCT (n.*1372_*1374delinsGCT)
c.1800_1802delinsGCT (p.Met600=)
c.424_426delinsGCT
c.*1269_*1271delinsGCT (n.*1269_*1271delinsGCT)
c.*267_*269delinsGCT (n.*267_*269delinsGCT)
c.1760_1762delinsGCT
n.759_761delinsGCT
n.47_49delinsGCT
n.780_782delinsGCT
c.1620_1622delinsGCT (p.Met540=)
c.*1066_*1068delinsGCT (n.*1066_*1068delinsGCT)
c.1656_1658delinsGCT (p.Met552=)
n.274_276delinsGCT
n.492_494delinsGCT
c.407_409delinsGCT (n.407_409delinsGCT)
c.1167_1169delinsGCT (p.Met389=)
c.1929_1931delinsGCT (p.Met643=)
c.423_425delinsGCT (p.Met141=)
16g.2070508_2070515delCA2573151519TSC2c.*316_*323del (n.*316_*323del)
c.1814_1821del (p.Leu605ProfsTer24)
c.1769_1776del (p.Leu590ProfsTer24)
c.*1206_*1213del (n.*1206_*1213del)
c.*1374_*1381del (n.*1374_*1381del)
c.1802_1809del (p.Leu601ProfsTer24)
c.426_433del
c.*1271_*1278del (n.*1271_*1278del)
c.*269_*276del (n.*269_*276del)
c.1762_1769del
n.761_768del
n.49_56del
n.782_789del
c.1622_1629del (p.Leu541ProfsTer24)
c.*1068_*1075del (n.*1068_*1075del)
c.1658_1665del (p.Leu553ProfsTer24)
n.276_283del
n.494_501del
c.409_416del (n.409_416del)
c.1169_1176del (p.Leu390ProfsTer24)
c.1931_1938del (p.Leu644ProfsTer24)
c.425_432del (p.Leu142ProfsTer24)
 ClinVar dbSNP
16g.2070507C>ACA394272883TSC2c.*315C>A (n.*315C>A)
c.1813C>A (p.Leu605Met)
c.1768C>A (p.Leu590Met)
c.*1205C>A (n.*1205C>A)
c.*1373C>A (n.*1373C>A)
c.1801C>A (p.Leu601Met)
c.425C>A
c.*1270C>A (n.*1270C>A)
c.*268C>A (n.*268C>A)
c.1761C>A
n.760C>A
n.48C>A
n.781C>A
c.1621C>A (p.Leu541Met)
c.*1067C>A (n.*1067C>A)
c.1657C>A (p.Leu553Met)
n.275C>A
n.493C>A
c.408C>A (n.408C>A)
c.1168C>A (p.Leu390Met)
c.1930C>A (p.Leu644Met)
c.424C>A (p.Leu142Met)
16g.2070507C=CA2202017764TSC2c.*315C= (n.*315C=)
c.1813C= (p.Leu605=)
c.1768C= (p.Leu590=)
c.*1205C= (n.*1205C=)
c.*1373C= (n.*1373C=)
c.1801C= (p.Leu601=)
c.425C=
c.*1270C= (n.*1270C=)
c.*268C= (n.*268C=)
c.1761C=
n.760C=
n.48C=
n.781C=
c.1621C= (p.Leu541=)
c.*1067C= (n.*1067C=)
c.1657C= (p.Leu553=)
n.275C=
n.493C=
c.408C= (n.408C=)
c.1168C= (p.Leu390=)
c.1930C= (p.Leu644=)
c.424C= (p.Leu142=)
16g.2070507C>GCA394272884TSC2c.*315C>G (n.*315C>G)
c.1813C>G (p.Leu605Val)
c.1768C>G (p.Leu590Val)
c.*1205C>G (n.*1205C>G)
c.*1373C>G (n.*1373C>G)
c.1801C>G (p.Leu601Val)
c.425C>G
c.*1270C>G (n.*1270C>G)
c.*268C>G (n.*268C>G)
c.1761C>G
n.760C>G
n.48C>G
n.781C>G
c.1621C>G (p.Leu541Val)
c.*1067C>G (n.*1067C>G)
c.1657C>G (p.Leu553Val)
n.275C>G
n.493C>G
c.408C>G (n.408C>G)
c.1168C>G (p.Leu390Val)
c.1930C>G (p.Leu644Val)
c.424C>G (p.Leu142Val)
 dbSNP
16g.2070507C>TCA033425TSC2c.*315C>T (n.*315C>T)
c.1813C>T (p.Leu605=)
c.1768C>T (p.Leu590=)
c.*1205C>T (n.*1205C>T)
c.*1373C>T (n.*1373C>T)
c.1801C>T (p.Leu601=)
c.425C>T
c.*1270C>T (n.*1270C>T)
c.*268C>T (n.*268C>T)
c.1761C>T
n.760C>T
n.48C>T
n.781C>T
c.1621C>T (p.Leu541=)
c.*1067C>T (n.*1067C>T)
c.1657C>T (p.Leu553=)
n.275C>T
n.493C>T
c.408C>T (n.408C>T)
c.1168C>T (p.Leu390=)
c.1930C>T (p.Leu644=)
c.424C>T (p.Leu142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070507_2070508delinsGCA915946246TSC2c.*315_*316delinsG (n.*315_*316delinsG)
c.1813_1814delinsG (p.Leu605GlyfsTer?)
c.1768_1769delinsG (p.Leu590GlyfsTer?)
c.*1205_*1206delinsG (n.*1205_*1206delinsG)
c.*1373_*1374delinsG (n.*1373_*1374delinsG)
c.1801_1802delinsG (p.Leu601GlyfsTer?)
c.425_426delinsG
c.*1270_*1271delinsG (n.*1270_*1271delinsG)
c.*268_*269delinsG (n.*268_*269delinsG)
c.1761_1762delinsG
n.760_761delinsG
n.48_49delinsG
n.781_782delinsG
c.1621_1622delinsG (p.Leu541GlyfsTer?)
c.*1067_*1068delinsG (n.*1067_*1068delinsG)
c.1657_1658delinsG (p.Leu553GlyfsTer?)
n.275_276delinsG
n.493_494delinsG
c.408_409delinsG (n.408_409delinsG)
c.1168_1169delinsG (p.Leu390GlyfsTer?)
c.1930_1931delinsG (p.Leu644GlyfsTer?)
c.424_425delinsG (p.Leu142GlyfsTer?)
 ClinVar dbSNP
16g.2070508T>ACA394272885TSC2c.*316T>A (n.*316T>A)
c.1814T>A (p.Leu605Gln)
c.1769T>A (p.Leu590Gln)
c.*1206T>A (n.*1206T>A)
c.*1374T>A (n.*1374T>A)
c.1802T>A (p.Leu601Gln)
c.426T>A
c.*1271T>A (n.*1271T>A)
c.*269T>A (n.*269T>A)
c.1762T>A
n.761T>A
n.49T>A
n.782T>A
c.1622T>A (p.Leu541Gln)
c.*1068T>A (n.*1068T>A)
c.1658T>A (p.Leu553Gln)
n.276T>A
n.494T>A
c.409T>A (n.409T>A)
c.1169T>A (p.Leu390Gln)
c.1931T>A (p.Leu644Gln)
c.425T>A (p.Leu142Gln)
16g.2070508T>CCA015683TSC2c.*316T>C (n.*316T>C)
c.1814T>C (p.Leu605Pro)
c.1769T>C (p.Leu590Pro)
c.*1206T>C (n.*1206T>C)
c.*1374T>C (n.*1374T>C)
c.1802T>C (p.Leu601Pro)
c.426T>C
c.*1271T>C (n.*1271T>C)
c.*269T>C (n.*269T>C)
c.1762T>C
n.761T>C
n.49T>C
n.782T>C
c.1622T>C (p.Leu541Pro)
c.*1068T>C (n.*1068T>C)
c.1658T>C (p.Leu553Pro)
n.276T>C
n.494T>C
c.409T>C (n.409T>C)
c.1169T>C (p.Leu390Pro)
c.1931T>C (p.Leu644Pro)
c.425T>C (p.Leu142Pro)
 ClinVar dbSNP
16g.2070508T>GCA394272886TSC2c.*316T>G (n.*316T>G)
c.1814T>G (p.Leu605Arg)
c.1769T>G (p.Leu590Arg)
c.*1206T>G (n.*1206T>G)
c.*1374T>G (n.*1374T>G)
c.1802T>G (p.Leu601Arg)
c.426T>G
c.*1271T>G (n.*1271T>G)
c.*269T>G (n.*269T>G)
c.1762T>G
n.761T>G
n.49T>G
n.782T>G
c.1622T>G (p.Leu541Arg)
c.*1068T>G (n.*1068T>G)
c.1658T>G (p.Leu553Arg)
n.276T>G
n.494T>G
c.409T>G (n.409T>G)
c.1169T>G (p.Leu390Arg)
c.1931T>G (p.Leu644Arg)
c.425T>G (p.Leu142Arg)
 dbSNP
16g.2070508T=CA2202017770TSC2c.*316T= (n.*316T=)
c.1814T= (p.Leu605=)
c.1769T= (p.Leu590=)
c.*1206T= (n.*1206T=)
c.*1374T= (n.*1374T=)
c.1802T= (p.Leu601=)
c.426T=
c.*1271T= (n.*1271T=)
c.*269T= (n.*269T=)
c.1762T=
n.761T=
n.49T=
n.782T=
c.1622T= (p.Leu541=)
c.*1068T= (n.*1068T=)
c.1658T= (p.Leu553=)
n.276T=
n.494T=
c.409T= (n.409T=)
c.1169T= (p.Leu390=)
c.1931T= (p.Leu644=)
c.425T= (p.Leu142=)
16g.2070508_2070509delinsTGCA2202017773TSC2c.*316_*317delinsTG (n.*316_*317delinsTG)
c.1814_1815delinsTG (p.Leu605=)
c.1769_1770delinsTG (p.Leu590=)
c.*1206_*1207delinsTG (n.*1206_*1207delinsTG)
c.*1374_*1375delinsTG (n.*1374_*1375delinsTG)
c.1802_1803delinsTG (p.Leu601=)
c.426_427delinsTG
c.*1271_*1272delinsTG (n.*1271_*1272delinsTG)
c.*269_*270delinsTG (n.*269_*270delinsTG)
c.1762_1763delinsTG
n.761_762delinsTG
n.49_50delinsTG
n.782_783delinsTG
c.1622_1623delinsTG (p.Leu541=)
c.*1068_*1069delinsTG (n.*1068_*1069delinsTG)
c.1658_1659delinsTG (p.Leu553=)
n.276_277delinsTG
n.494_495delinsTG
c.409_410delinsTG (n.409_410delinsTG)
c.1169_1170delinsTG (p.Leu390=)
c.1931_1932delinsTG (p.Leu644=)
c.425_426delinsTG (p.Leu142=)
16g.2070509G>ACA492949751TSC2c.*317G>A (n.*317G>A)
c.1815G>A (p.Leu605=)
c.1770G>A (p.Leu590=)
c.*1207G>A (n.*1207G>A)
c.*1375G>A (n.*1375G>A)
c.1803G>A (p.Leu601=)
c.427G>A
c.*1272G>A (n.*1272G>A)
c.*270G>A (n.*270G>A)
c.1763G>A
n.762G>A
n.50G>A
n.783G>A
c.1623G>A (p.Leu541=)
c.*1069G>A (n.*1069G>A)
c.1659G>A (p.Leu553=)
n.277G>A
n.495G>A
c.410G>A (n.410G>A)
c.1170G>A (p.Leu390=)
c.1932G>A (p.Leu644=)
c.426G>A (p.Leu142=)
 ClinVar dbSNP
16g.2070509G>CCA033454TSC2c.*317G>C (n.*317G>C)
c.1815G>C (p.Leu605=)
c.1770G>C (p.Leu590=)
c.*1207G>C (n.*1207G>C)
c.*1375G>C (n.*1375G>C)
c.1803G>C (p.Leu601=)
c.427G>C
c.*1272G>C (n.*1272G>C)
c.*270G>C (n.*270G>C)
c.1763G>C
n.762G>C
n.50G>C
n.783G>C
c.1623G>C (p.Leu541=)
c.*1069G>C (n.*1069G>C)
c.1659G>C (p.Leu553=)
n.277G>C
n.495G>C
c.410G>C (n.410G>C)
c.1170G>C (p.Leu390=)
c.1932G>C (p.Leu644=)
c.426G>C (p.Leu142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070509G=CA2202017783TSC2c.*317G= (n.*317G=)
c.1815G= (p.Leu605=)
c.1770G= (p.Leu590=)
c.*1207G= (n.*1207G=)
c.*1375G= (n.*1375G=)
c.1803G= (p.Leu601=)
c.427G=
c.*1272G= (n.*1272G=)
c.*270G= (n.*270G=)
c.1763G=
n.762G=
n.50G=
n.783G=
c.1623G= (p.Leu541=)
c.*1069G= (n.*1069G=)
c.1659G= (p.Leu553=)
n.277G=
n.495G=
c.410G= (n.410G=)
c.1170G= (p.Leu390=)
c.1932G= (p.Leu644=)
c.426G= (p.Leu142=)
16g.2070509G>TCA492949752TSC2c.*317G>T (n.*317G>T)
c.1815G>T (p.Leu605=)
c.1770G>T (p.Leu590=)
c.*1207G>T (n.*1207G>T)
c.*1375G>T (n.*1375G>T)
c.1803G>T (p.Leu601=)
c.427G>T
c.*1272G>T (n.*1272G>T)
c.*270G>T (n.*270G>T)
c.1763G>T
n.762G>T
n.50G>T
n.783G>T
c.1623G>T (p.Leu541=)
c.*1069G>T (n.*1069G>T)
c.1659G>T (p.Leu553=)
n.277G>T
n.495G>T
c.410G>T (n.410G>T)
c.1170G>T (p.Leu390=)
c.1932G>T (p.Leu644=)
c.426G>T (p.Leu142=)
 ClinVar dbSNP
16g.2070510delCA015686TSC2c.*318del (n.*318del)
c.1816del (p.Val606SerfsTer?)
c.1771del (p.Val591SerfsTer?)
c.*1208del (n.*1208del)
c.*1376del (n.*1376del)
c.1804del (p.Val602SerfsTer?)
c.428del
c.*1273del (n.*1273del)
c.*271del (n.*271del)
c.1764del
n.763del
n.51del
n.784del
c.1624del (p.Val542SerfsTer?)
c.*1070del (n.*1070del)
c.1660del (p.Val554SerfsTer?)
n.278del
n.496del
c.411del (n.411del)
c.1171del (p.Val391SerfsTer?)
c.1933del (p.Val645SerfsTer?)
c.427del (p.Val143SerfsTer?)
 ClinVar dbSNP
16g.2070510G>ACA276735673TSC2c.*318G>A (n.*318G>A)
c.1816G>A (p.Val606Ile)
c.1771G>A (p.Val591Ile)
c.*1208G>A (n.*1208G>A)
c.*1376G>A (n.*1376G>A)
c.1804G>A (p.Val602Ile)
c.428G>A
c.*1273G>A (n.*1273G>A)
c.*271G>A (n.*271G>A)
c.1764G>A
n.763G>A
n.51G>A
n.784G>A
c.1624G>A (p.Val542Ile)
c.*1070G>A (n.*1070G>A)
c.1660G>A (p.Val554Ile)
n.278G>A
n.496G>A
c.411G>A (n.411G>A)
c.1171G>A (p.Val391Ile)
c.1933G>A (p.Val645Ile)
c.427G>A (p.Val143Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2070510G>CCA394272887TSC2c.*318G>C (n.*318G>C)
c.1816G>C (p.Val606Leu)
c.1771G>C (p.Val591Leu)
c.*1208G>C (n.*1208G>C)
c.*1376G>C (n.*1376G>C)
c.1804G>C (p.Val602Leu)
c.428G>C
c.*1273G>C (n.*1273G>C)
c.*271G>C (n.*271G>C)
c.1764G>C
n.763G>C
n.51G>C
n.784G>C
c.1624G>C (p.Val542Leu)
c.*1070G>C (n.*1070G>C)
c.1660G>C (p.Val554Leu)
n.278G>C
n.496G>C
c.411G>C (n.411G>C)
c.1171G>C (p.Val391Leu)
c.1933G>C (p.Val645Leu)
c.427G>C (p.Val143Leu)
 ClinVar dbSNP gnomAD v4
16g.2070510G=CA2202017792TSC2c.*318G= (n.*318G=)
c.1816G= (p.Val606=)
c.1771G= (p.Val591=)
c.*1208G= (n.*1208G=)
c.*1376G= (n.*1376G=)
c.1804G= (p.Val602=)
c.428G=
c.*1273G= (n.*1273G=)
c.*271G= (n.*271G=)
c.1764G=
n.763G=
n.51G=
n.784G=
c.1624G= (p.Val542=)
c.*1070G= (n.*1070G=)
c.1660G= (p.Val554=)
n.278G=
n.496G=
c.411G= (n.411G=)
c.1171G= (p.Val391=)
c.1933G= (p.Val645=)
c.427G= (p.Val143=)
16g.2070510G>TCA394272888TSC2c.*318G>T (n.*318G>T)
c.1816G>T (p.Val606Phe)
c.1771G>T (p.Val591Phe)
c.*1208G>T (n.*1208G>T)
c.*1376G>T (n.*1376G>T)
c.1804G>T (p.Val602Phe)
c.428G>T
c.*1273G>T (n.*1273G>T)
c.*271G>T (n.*271G>T)
c.1764G>T
n.763G>T
n.51G>T
n.784G>T
c.1624G>T (p.Val542Phe)
c.*1070G>T (n.*1070G>T)
c.1660G>T (p.Val554Phe)
n.278G>T
n.496G>T
c.411G>T (n.411G>T)
c.1171G>T (p.Val391Phe)
c.1933G>T (p.Val645Phe)
c.427G>T (p.Val143Phe)
16g.2070511T>ACA394272889TSC2c.*319T>A (n.*319T>A)
c.1817T>A (p.Val606Asp)
c.1772T>A (p.Val591Asp)
c.*1209T>A (n.*1209T>A)
c.*1377T>A (n.*1377T>A)
c.1805T>A (p.Val602Asp)
c.429T>A
c.*1274T>A (n.*1274T>A)
c.*272T>A (n.*272T>A)
c.1765T>A
n.764T>A
n.52T>A
n.785T>A
c.1625T>A (p.Val542Asp)
c.*1071T>A (n.*1071T>A)
c.1661T>A (p.Val554Asp)
n.279T>A
n.497T>A
c.412T>A (n.412T>A)
c.1172T>A (p.Val391Asp)
c.1934T>A (p.Val645Asp)
c.428T>A (p.Val143Asp)
 dbSNP
16g.2070511T>CCA394272890TSC2c.*319T>C (n.*319T>C)
c.1817T>C (p.Val606Ala)
c.1772T>C (p.Val591Ala)
c.*1209T>C (n.*1209T>C)
c.*1377T>C (n.*1377T>C)
c.1805T>C (p.Val602Ala)
c.429T>C
c.*1274T>C (n.*1274T>C)
c.*272T>C (n.*272T>C)
c.1765T>C
n.764T>C
n.52T>C
n.785T>C
c.1625T>C (p.Val542Ala)
c.*1071T>C (n.*1071T>C)
c.1661T>C (p.Val554Ala)
n.279T>C
n.497T>C
c.412T>C (n.412T>C)
c.1172T>C (p.Val391Ala)
c.1934T>C (p.Val645Ala)
c.428T>C (p.Val143Ala)
 dbSNP
16g.2070511T>GCA394272891TSC2c.*319T>G (n.*319T>G)
c.1817T>G (p.Val606Gly)
c.1772T>G (p.Val591Gly)
c.*1209T>G (n.*1209T>G)
c.*1377T>G (n.*1377T>G)
c.1805T>G (p.Val602Gly)
c.429T>G
c.*1274T>G (n.*1274T>G)
c.*272T>G (n.*272T>G)
c.1765T>G
n.764T>G
n.52T>G
n.785T>G
c.1625T>G (p.Val542Gly)
c.*1071T>G (n.*1071T>G)
c.1661T>G (p.Val554Gly)
n.279T>G
n.497T>G
c.412T>G (n.412T>G)
c.1172T>G (p.Val391Gly)
c.1934T>G (p.Val645Gly)
c.428T>G (p.Val143Gly)
 ClinVar gnomAD v4
16g.2070512C>ACA492949760TSC2c.*320C>A (n.*320C>A)
c.1818C>A (p.Val606=)
c.1773C>A (p.Val591=)
c.*1210C>A (n.*1210C>A)
c.*1378C>A (n.*1378C>A)
c.1806C>A (p.Val602=)
c.430C>A
c.*1275C>A (n.*1275C>A)
c.*273C>A (n.*273C>A)
c.1766C>A
n.765C>A
n.53C>A
n.786C>A
c.1626C>A (p.Val542=)
c.*1072C>A (n.*1072C>A)
c.1662C>A (p.Val554=)
n.280C>A
n.498C>A
c.413C>A (n.413C>A)
c.1173C>A (p.Val391=)
c.1935C>A (p.Val645=)
c.429C>A (p.Val143=)
16g.2070512C=CA2202017799TSC2c.*320C= (n.*320C=)
c.1818C= (p.Val606=)
c.1773C= (p.Val591=)
c.*1210C= (n.*1210C=)
c.*1378C= (n.*1378C=)
c.1806C= (p.Val602=)
c.430C=
c.*1275C= (n.*1275C=)
c.*273C= (n.*273C=)
c.1766C=
n.765C=
n.53C=
n.786C=
c.1626C= (p.Val542=)
c.*1072C= (n.*1072C=)
c.1662C= (p.Val554=)
n.280C=
n.498C=
c.413C= (n.413C=)
c.1173C= (p.Val391=)
c.1935C= (p.Val645=)
c.429C= (p.Val143=)
16g.2070512C>GCA492949761TSC2c.*320C>G (n.*320C>G)
c.1818C>G (p.Val606=)
c.1773C>G (p.Val591=)
c.*1210C>G (n.*1210C>G)
c.*1378C>G (n.*1378C>G)
c.1806C>G (p.Val602=)
c.430C>G
c.*1275C>G (n.*1275C>G)
c.*273C>G (n.*273C>G)
c.1766C>G
n.765C>G
n.53C>G
n.786C>G
c.1626C>G (p.Val542=)
c.*1072C>G (n.*1072C>G)
c.1662C>G (p.Val554=)
n.280C>G
n.498C>G
c.413C>G (n.413C>G)
c.1173C>G (p.Val391=)
c.1935C>G (p.Val645=)
c.429C>G (p.Val143=)
 ClinVar dbSNP
16g.2070512C>TCA492949762TSC2c.*320C>T (n.*320C>T)
c.1818C>T (p.Val606=)
c.1773C>T (p.Val591=)
c.*1210C>T (n.*1210C>T)
c.*1378C>T (n.*1378C>T)
c.1806C>T (p.Val602=)
c.430C>T
c.*1275C>T (n.*1275C>T)
c.*273C>T (n.*273C>T)
c.1766C>T
n.765C>T
n.53C>T
n.786C>T
c.1626C>T (p.Val542=)
c.*1072C>T (n.*1072C>T)
c.1662C>T (p.Val554=)
n.280C>T
n.498C>T
c.413C>T (n.413C>T)
c.1173C>T (p.Val391=)
c.1935C>T (p.Val645=)
c.429C>T (p.Val143=)
 ClinVar dbSNP
16g.2070513A=CA2202017806TSC2c.*321A= (n.*321A=)
c.1819A= (p.Ser607=)
c.1774A= (p.Ser592=)
c.*1211A= (n.*1211A=)
c.*1379A= (n.*1379A=)
c.1807A= (p.Ser603=)
c.431A=
c.*1276A= (n.*1276A=)
c.*274A= (n.*274A=)
c.1767A=
n.766A=
n.54A=
n.787A=
c.1627A= (p.Ser543=)
c.*1073A= (n.*1073A=)
c.1663A= (p.Ser555=)
n.281A=
n.499A=
c.414A= (n.414A=)
c.1174A= (p.Ser392=)
c.1936A= (p.Ser646=)
c.430A= (p.Ser144=)
16g.2070513A>CCA394272892TSC2c.*321A>C (n.*321A>C)
c.1819A>C (p.Ser607Arg)
c.1774A>C (p.Ser592Arg)
c.*1211A>C (n.*1211A>C)
c.*1379A>C (n.*1379A>C)
c.1807A>C (p.Ser603Arg)
c.431A>C
c.*1276A>C (n.*1276A>C)
c.*274A>C (n.*274A>C)
c.1767A>C
n.766A>C
n.54A>C
n.787A>C
c.1627A>C (p.Ser543Arg)
c.*1073A>C (n.*1073A>C)
c.1663A>C (p.Ser555Arg)
n.281A>C
n.499A>C
c.414A>C (n.414A>C)
c.1174A>C (p.Ser392Arg)
c.1936A>C (p.Ser646Arg)
c.430A>C (p.Ser144Arg)
16g.2070513A>GCA16614713TSC2c.*321A>G (n.*321A>G)
c.1819A>G (p.Ser607Gly)
c.1774A>G (p.Ser592Gly)
c.*1211A>G (n.*1211A>G)
c.*1379A>G (n.*1379A>G)
c.1807A>G (p.Ser603Gly)
c.431A>G
c.*1276A>G (n.*1276A>G)
c.*274A>G (n.*274A>G)
c.1767A>G
n.766A>G
n.54A>G
n.787A>G
c.1627A>G (p.Ser543Gly)
c.*1073A>G (n.*1073A>G)
c.1663A>G (p.Ser555Gly)
n.281A>G
n.499A>G
c.414A>G (n.414A>G)
c.1174A>G (p.Ser392Gly)
c.1936A>G (p.Ser646Gly)
c.430A>G (p.Ser144Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2070513A>TCA394272893TSC2c.*321A>T (n.*321A>T)
c.1819A>T (p.Ser607Cys)
c.1774A>T (p.Ser592Cys)
c.*1211A>T (n.*1211A>T)
c.*1379A>T (n.*1379A>T)
c.1807A>T (p.Ser603Cys)
c.431A>T
c.*1276A>T (n.*1276A>T)
c.*274A>T (n.*274A>T)
c.1767A>T
n.766A>T
n.54A>T
n.787A>T
c.1627A>T (p.Ser543Cys)
c.*1073A>T (n.*1073A>T)
c.1663A>T (p.Ser555Cys)
n.281A>T
n.499A>T
c.414A>T (n.414A>T)
c.1174A>T (p.Ser392Cys)
c.1936A>T (p.Ser646Cys)
c.430A>T (p.Ser144Cys)
 dbSNP
16g.2070514G>ACA033474TSC2c.*322G>A (n.*322G>A)
c.1820G>A (p.Ser607Asn)
c.1775G>A (p.Ser592Asn)
c.*1212G>A (n.*1212G>A)
c.*1380G>A (n.*1380G>A)
c.1808G>A (p.Ser603Asn)
c.432G>A
c.*1277G>A (n.*1277G>A)
c.*275G>A (n.*275G>A)
c.1768G>A
n.767G>A
n.55G>A
n.788G>A
c.1628G>A (p.Ser543Asn)
c.*1074G>A (n.*1074G>A)
c.1664G>A (p.Ser555Asn)
n.282G>A
n.500G>A
c.415G>A (n.415G>A)
c.1175G>A (p.Ser392Asn)
c.1937G>A (p.Ser646Asn)
c.431G>A (p.Ser144Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2070514G>CCA394272895TSC2c.*322G>C (n.*322G>C)
c.1820G>C (p.Ser607Thr)
c.1775G>C (p.Ser592Thr)
c.*1212G>C (n.*1212G>C)
c.*1380G>C (n.*1380G>C)
c.1808G>C (p.Ser603Thr)
c.432G>C
c.*1277G>C (n.*1277G>C)
c.*275G>C (n.*275G>C)
c.1768G>C
n.767G>C
n.55G>C
n.788G>C
c.1628G>C (p.Ser543Thr)
c.*1074G>C (n.*1074G>C)
c.1664G>C (p.Ser555Thr)
n.282G>C
n.500G>C
c.415G>C (n.415G>C)
c.1175G>C (p.Ser392Thr)
c.1937G>C (p.Ser646Thr)
c.431G>C (p.Ser144Thr)
 ClinVar gnomAD v4
16g.2070514G=CA2202017816TSC2c.*322G= (n.*322G=)
c.1820G= (p.Ser607=)
c.1775G= (p.Ser592=)
c.*1212G= (n.*1212G=)
c.*1380G= (n.*1380G=)
c.1808G= (p.Ser603=)
c.432G=
c.*1277G= (n.*1277G=)
c.*275G= (n.*275G=)
c.1768G=
n.767G=
n.55G=
n.788G=
c.1628G= (p.Ser543=)
c.*1074G= (n.*1074G=)
c.1664G= (p.Ser555=)
n.282G=
n.500G=
c.415G= (n.415G=)
c.1175G= (p.Ser392=)
c.1937G= (p.Ser646=)
c.431G= (p.Ser144=)
16g.2070514G>TCA394272894TSC2c.*322G>T (n.*322G>T)
c.1820G>T (p.Ser607Ile)
c.1775G>T (p.Ser592Ile)
c.*1212G>T (n.*1212G>T)
c.*1380G>T (n.*1380G>T)
c.1808G>T (p.Ser603Ile)
c.432G>T
c.*1277G>T (n.*1277G>T)
c.*275G>T (n.*275G>T)
c.1768G>T
n.767G>T
n.55G>T
n.788G>T
c.1628G>T (p.Ser543Ile)
c.*1074G>T (n.*1074G>T)
c.1664G>T (p.Ser555Ile)
n.282G>T
n.500G>T
c.415G>T (n.415G>T)
c.1175G>T (p.Ser392Ile)
c.1937G>T (p.Ser646Ile)
c.431G>T (p.Ser144Ile)
 gnomAD v4
16g.2070515C>ACA394272896TSC2c.*323C>A (n.*323C>A)
c.1821C>A (p.Ser607Arg)
c.1776C>A (p.Ser592Arg)
c.*1213C>A (n.*1213C>A)
c.*1381C>A (n.*1381C>A)
c.1809C>A (p.Ser603Arg)
c.433C>A
c.*1278C>A (n.*1278C>A)
c.*276C>A (n.*276C>A)
c.1769C>A
n.768C>A
n.56C>A
n.789C>A
c.1629C>A (p.Ser543Arg)
c.*1075C>A (n.*1075C>A)
c.1665C>A (p.Ser555Arg)
n.283C>A
n.501C>A
c.416C>A (n.416C>A)
c.1176C>A (p.Ser392Arg)
c.1938C>A (p.Ser646Arg)
c.432C>A (p.Ser144Arg)
 dbSNP
16g.2070515C=CA2202017826TSC2c.*323C= (n.*323C=)
c.1821C= (p.Ser607=)
c.1776C= (p.Ser592=)
c.*1213C= (n.*1213C=)
c.*1381C= (n.*1381C=)
c.1809C= (p.Ser603=)
c.433C=
c.*1278C= (n.*1278C=)
c.*276C= (n.*276C=)
c.1769C=
n.768C=
n.56C=
n.789C=
c.1629C= (p.Ser543=)
c.*1075C= (n.*1075C=)
c.1665C= (p.Ser555=)
n.283C=
n.501C=
c.416C= (n.416C=)
c.1176C= (p.Ser392=)
c.1938C= (p.Ser646=)
c.432C= (p.Ser144=)
16g.2070515C>GCA394272897TSC2c.*323C>G (n.*323C>G)
c.1821C>G (p.Ser607Arg)
c.1776C>G (p.Ser592Arg)
c.*1213C>G (n.*1213C>G)
c.*1381C>G (n.*1381C>G)
c.1809C>G (p.Ser603Arg)
c.433C>G
c.*1278C>G (n.*1278C>G)
c.*276C>G (n.*276C>G)
c.1769C>G
n.768C>G
n.56C>G
n.789C>G
c.1629C>G (p.Ser543Arg)
c.*1075C>G (n.*1075C>G)
c.1665C>G (p.Ser555Arg)
n.283C>G
n.501C>G
c.416C>G (n.416C>G)
c.1176C>G (p.Ser392Arg)
c.1938C>G (p.Ser646Arg)
c.432C>G (p.Ser144Arg)
 ClinVar dbSNP
16g.2070515C>TCA492949768TSC2c.*323C>T (n.*323C>T)
c.1821C>T (p.Ser607=)
c.1776C>T (p.Ser592=)
c.*1213C>T (n.*1213C>T)
c.*1381C>T (n.*1381C>T)
c.1809C>T (p.Ser603=)
c.433C>T
c.*1278C>T (n.*1278C>T)
c.*276C>T (n.*276C>T)
c.1769C>T
n.768C>T
n.56C>T
n.789C>T
c.1629C>T (p.Ser543=)
c.*1075C>T (n.*1075C>T)
c.1665C>T (p.Ser555=)
n.283C>T
n.501C>T
c.416C>T (n.416C>T)
c.1176C>T (p.Ser392=)
c.1938C>T (p.Ser646=)
c.432C>T (p.Ser144=)
 ClinVar dbSNP
16g.2070516C>ACA394272898TSC2c.*324C>A (n.*324C>A)
c.1822C>A (p.His608Asn)
c.1777C>A (p.His593Asn)
c.*1214C>A (n.*1214C>A)
c.*1382C>A (n.*1382C>A)
c.1810C>A (p.His604Asn)
c.434C>A
c.*1279C>A (n.*1279C>A)
c.*277C>A (n.*277C>A)
c.1770C>A
n.769C>A
n.57C>A
n.790C>A
c.1630C>A (p.His544Asn)
c.*1076C>A (n.*1076C>A)
c.1666C>A (p.His556Asn)
n.284C>A
n.502C>A
c.417C>A (n.417C>A)
c.1177C>A (p.His393Asn)
c.1939C>A (p.His647Asn)
c.433C>A (p.His145Asn)
 dbSNP
16g.2070516C=CA2202017834TSC2c.*324C= (n.*324C=)
c.1822C= (p.His608=)
c.1777C= (p.His593=)
c.*1214C= (n.*1214C=)
c.*1382C= (n.*1382C=)
c.1810C= (p.His604=)
c.434C=
c.*1279C= (n.*1279C=)
c.*277C= (n.*277C=)
c.1770C=
n.769C=
n.57C=
n.790C=
c.1630C= (p.His544=)
c.*1076C= (n.*1076C=)
c.1666C= (p.His556=)
n.284C=
n.502C=
c.417C= (n.417C=)
c.1177C= (p.His393=)
c.1939C= (p.His647=)
c.433C= (p.His145=)
16g.2070516C>GCA394272899TSC2c.*324C>G (n.*324C>G)
c.1822C>G (p.His608Asp)
c.1777C>G (p.His593Asp)
c.*1214C>G (n.*1214C>G)
c.*1382C>G (n.*1382C>G)
c.1810C>G (p.His604Asp)
c.434C>G
c.*1279C>G (n.*1279C>G)
c.*277C>G (n.*277C>G)
c.1770C>G
n.769C>G
n.57C>G
n.790C>G
c.1630C>G (p.His544Asp)
c.*1076C>G (n.*1076C>G)
c.1666C>G (p.His556Asp)
n.284C>G
n.502C>G
c.417C>G (n.417C>G)
c.1177C>G (p.His393Asp)
c.1939C>G (p.His647Asp)
c.433C>G (p.His145Asp)
 dbSNP
16g.2070516C>TCA394272900TSC2c.*324C>T (n.*324C>T)
c.1822C>T (p.His608Tyr)
c.1777C>T (p.His593Tyr)
c.*1214C>T (n.*1214C>T)
c.*1382C>T (n.*1382C>T)
c.1810C>T (p.His604Tyr)
c.434C>T
c.*1279C>T (n.*1279C>T)
c.*277C>T (n.*277C>T)
c.1770C>T
n.769C>T
n.57C>T
n.790C>T
c.1630C>T (p.His544Tyr)
c.*1076C>T (n.*1076C>T)
c.1666C>T (p.His556Tyr)
n.284C>T
n.502C>T
c.417C>T (n.417C>T)
c.1177C>T (p.His393Tyr)
c.1939C>T (p.His647Tyr)
c.433C>T (p.His145Tyr)
 ClinVar dbSNP
16g.2070517A=CA2202017843TSC2c.*325A= (n.*325A=)
c.1823A= (p.His608=)
c.1778A= (p.His593=)
c.*1215A= (n.*1215A=)
c.*1383A= (n.*1383A=)
c.1811A= (p.His604=)
c.435A=
c.*1280A= (n.*1280A=)
c.*278A= (n.*278A=)
c.1771A=
n.770A=
n.58A=
n.791A=
c.1631A= (p.His544=)
c.*1077A= (n.*1077A=)
c.1667A= (p.His556=)
n.285A=
n.503A=
c.418A= (n.418A=)
c.1178A= (p.His393=)
c.1940A= (p.His647=)
c.434A= (p.His145=)
16g.2070517A>CCA394272901TSC2c.*325A>C (n.*325A>C)
c.1823A>C (p.His608Pro)
c.1778A>C (p.His593Pro)
c.*1215A>C (n.*1215A>C)
c.*1383A>C (n.*1383A>C)
c.1811A>C (p.His604Pro)
c.435A>C
c.*1280A>C (n.*1280A>C)
c.*278A>C (n.*278A>C)
c.1771A>C
n.770A>C
n.58A>C
n.791A>C
c.1631A>C (p.His544Pro)
c.*1077A>C (n.*1077A>C)
c.1667A>C (p.His556Pro)
n.285A>C
n.503A>C
c.418A>C (n.418A>C)
c.1178A>C (p.His393Pro)
c.1940A>C (p.His647Pro)
c.434A>C (p.His145Pro)
 dbSNP
16g.2070517A>GCA015696TSC2c.*325A>G (n.*325A>G)
c.1823A>G (p.His608Arg)
c.1778A>G (p.His593Arg)
c.*1215A>G (n.*1215A>G)
c.*1383A>G (n.*1383A>G)
c.1811A>G (p.His604Arg)
c.435A>G
c.*1280A>G (n.*1280A>G)
c.*278A>G (n.*278A>G)
c.1771A>G
n.770A>G
n.58A>G
n.791A>G
c.1631A>G (p.His544Arg)
c.*1077A>G (n.*1077A>G)
c.1667A>G (p.His556Arg)
n.285A>G
n.503A>G
c.418A>G (n.418A>G)
c.1178A>G (p.His393Arg)
c.1940A>G (p.His647Arg)
c.434A>G (p.His145Arg)
 ClinVar dbSNP COSMIC COSMIC
16g.2070517A>TCA394272902TSC2c.*325A>T (n.*325A>T)
c.1823A>T (p.His608Leu)
c.1778A>T (p.His593Leu)
c.*1215A>T (n.*1215A>T)
c.*1383A>T (n.*1383A>T)
c.1811A>T (p.His604Leu)
c.435A>T
c.*1280A>T (n.*1280A>T)
c.*278A>T (n.*278A>T)
c.1771A>T
n.770A>T
n.58A>T
n.791A>T
c.1631A>T (p.His544Leu)
c.*1077A>T (n.*1077A>T)
c.1667A>T (p.His556Leu)
n.285A>T
n.503A>T
c.418A>T (n.418A>T)
c.1178A>T (p.His393Leu)
c.1940A>T (p.His647Leu)
c.434A>T (p.His145Leu)
 dbSNP
16g.2070518C>ACA394272903TSC2c.*326C>A (n.*326C>A)
c.1824C>A (p.His608Gln)
c.1779C>A (p.His593Gln)
c.*1216C>A (n.*1216C>A)
c.*1384C>A (n.*1384C>A)
c.1812C>A (p.His604Gln)
c.436C>A
c.*1281C>A (n.*1281C>A)
c.*279C>A (n.*279C>A)
c.1772C>A
n.771C>A
n.59C>A
n.792C>A
c.1632C>A (p.His544Gln)
c.*1078C>A (n.*1078C>A)
c.1668C>A (p.His556Gln)
n.286C>A
n.504C>A
c.419C>A (n.419C>A)
c.1179C>A (p.His393Gln)
c.1941C>A (p.His647Gln)
c.435C>A (p.His145Gln)
16g.2070518C=CA2202017855TSC2c.*326C= (n.*326C=)
c.1824C= (p.His608=)
c.1779C= (p.His593=)
c.*1216C= (n.*1216C=)
c.*1384C= (n.*1384C=)
c.1812C= (p.His604=)
c.436C=
c.*1281C= (n.*1281C=)
c.*279C= (n.*279C=)
c.1772C=
n.771C=
n.59C=
n.792C=
c.1632C= (p.His544=)
c.*1078C= (n.*1078C=)
c.1668C= (p.His556=)
n.286C=
n.504C=
c.419C= (n.419C=)
c.1179C= (p.His393=)
c.1941C= (p.His647=)
c.435C= (p.His145=)
16g.2070518C>GCA394272904TSC2c.*326C>G (n.*326C>G)
c.1824C>G (p.His608Gln)
c.1779C>G (p.His593Gln)
c.*1216C>G (n.*1216C>G)
c.*1384C>G (n.*1384C>G)
c.1812C>G (p.His604Gln)
c.436C>G
c.*1281C>G (n.*1281C>G)
c.*279C>G (n.*279C>G)
c.1772C>G
n.771C>G
n.59C>G
n.792C>G
c.1632C>G (p.His544Gln)
c.*1078C>G (n.*1078C>G)
c.1668C>G (p.His556Gln)
n.286C>G
n.504C>G
c.419C>G (n.419C>G)
c.1179C>G (p.His393Gln)
c.1941C>G (p.His647Gln)
c.435C>G (p.His145Gln)
 dbSNP
16g.2070518C>TCA033499TSC2c.*326C>T (n.*326C>T)
c.1824C>T (p.His608=)
c.1779C>T (p.His593=)
c.*1216C>T (n.*1216C>T)
c.*1384C>T (n.*1384C>T)
c.1812C>T (p.His604=)
c.436C>T
c.*1281C>T (n.*1281C>T)
c.*279C>T (n.*279C>T)
c.1772C>T
n.771C>T
n.59C>T
n.792C>T
c.1632C>T (p.His544=)
c.*1078C>T (n.*1078C>T)
c.1668C>T (p.His556=)
n.286C>T
n.504C>T
c.419C>T (n.419C>T)
c.1179C>T (p.His393=)
c.1941C>T (p.His647=)
c.435C>T (p.His145=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070519A=CA2202017863TSC2c.*327A= (n.*327A=)
c.1825A= (p.Ile609=)
c.1780A= (p.Ile594=)
c.*1217A= (n.*1217A=)
c.*1385A= (n.*1385A=)
c.1813A= (p.Ile605=)
c.437A=
c.*1282A= (n.*1282A=)
c.*280A= (n.*280A=)
c.1773A=
n.772A=
n.60A=
n.793A=
c.1633A= (p.Ile545=)
c.*1079A= (n.*1079A=)
c.1669A= (p.Ile557=)
n.287A=
n.505A=
c.420A= (n.420A=)
c.1180A= (p.Ile394=)
c.1942A= (p.Ile648=)
c.436A= (p.Ile146=)
16g.2070519A>CCA394272905TSC2c.*327A>C (n.*327A>C)
c.1825A>C (p.Ile609Leu)
c.1780A>C (p.Ile594Leu)
c.*1217A>C (n.*1217A>C)
c.*1385A>C (n.*1385A>C)
c.1813A>C (p.Ile605Leu)
c.437A>C
c.*1282A>C (n.*1282A>C)
c.*280A>C (n.*280A>C)
c.1773A>C
n.772A>C
n.60A>C
n.793A>C
c.1633A>C (p.Ile545Leu)
c.*1079A>C (n.*1079A>C)
c.1669A>C (p.Ile557Leu)
n.287A>C
n.505A>C
c.420A>C (n.420A>C)
c.1180A>C (p.Ile394Leu)
c.1942A>C (p.Ile648Leu)
c.436A>C (p.Ile146Leu)
 dbSNP
16g.2070519A>GCA394272907TSC2c.*327A>G (n.*327A>G)
c.1825A>G (p.Ile609Val)
c.1780A>G (p.Ile594Val)
c.*1217A>G (n.*1217A>G)
c.*1385A>G (n.*1385A>G)
c.1813A>G (p.Ile605Val)
c.437A>G
c.*1282A>G (n.*1282A>G)
c.*280A>G (n.*280A>G)
c.1773A>G
n.772A>G
n.60A>G
n.793A>G
c.1633A>G (p.Ile545Val)
c.*1079A>G (n.*1079A>G)
c.1669A>G (p.Ile557Val)
n.287A>G
n.505A>G
c.420A>G (n.420A>G)
c.1180A>G (p.Ile394Val)
c.1942A>G (p.Ile648Val)
c.436A>G (p.Ile146Val)
 ClinVar dbSNP gnomAD v4
16g.2070519A>TCA394272906TSC2c.*327A>T (n.*327A>T)
c.1825A>T (p.Ile609Phe)
c.1780A>T (p.Ile594Phe)
c.*1217A>T (n.*1217A>T)
c.*1385A>T (n.*1385A>T)
c.1813A>T (p.Ile605Phe)
c.437A>T
c.*1282A>T (n.*1282A>T)
c.*280A>T (n.*280A>T)
c.1773A>T
n.772A>T
n.60A>T
n.793A>T
c.1633A>T (p.Ile545Phe)
c.*1079A>T (n.*1079A>T)
c.1669A>T (p.Ile557Phe)
n.287A>T
n.505A>T
c.420A>T (n.420A>T)
c.1180A>T (p.Ile394Phe)
c.1942A>T (p.Ile648Phe)
c.436A>T (p.Ile146Phe)
16g.2070520T>ACA394272908TSC2c.*328T>A (n.*328T>A)
c.1826T>A (p.Ile609Asn)
c.1781T>A (p.Ile594Asn)
c.*1218T>A (n.*1218T>A)
c.*1386T>A (n.*1386T>A)
c.1814T>A (p.Ile605Asn)
c.438T>A
c.*1283T>A (n.*1283T>A)
c.*281T>A (n.*281T>A)
c.1774T>A
n.773T>A
n.61T>A
n.794T>A
c.1634T>A (p.Ile545Asn)
c.*1080T>A (n.*1080T>A)
c.1670T>A (p.Ile557Asn)
n.288T>A
n.506T>A
c.421T>A (n.421T>A)
c.1181T>A (p.Ile394Asn)
c.1943T>A (p.Ile648Asn)
c.437T>A (p.Ile146Asn)
16g.2070520T>CCA394272910TSC2c.*328T>C (n.*328T>C)
c.1826T>C (p.Ile609Thr)
c.1781T>C (p.Ile594Thr)
c.*1218T>C (n.*1218T>C)
c.*1386T>C (n.*1386T>C)
c.1814T>C (p.Ile605Thr)
c.438T>C
c.*1283T>C (n.*1283T>C)
c.*281T>C (n.*281T>C)
c.1774T>C
n.773T>C
n.61T>C
n.794T>C
c.1634T>C (p.Ile545Thr)
c.*1080T>C (n.*1080T>C)
c.1670T>C (p.Ile557Thr)
n.288T>C
n.506T>C
c.421T>C (n.421T>C)
c.1181T>C (p.Ile394Thr)
c.1943T>C (p.Ile648Thr)
c.437T>C (p.Ile146Thr)
 dbSNP
16g.2070520T>GCA394272909TSC2c.*328T>G (n.*328T>G)
c.1826T>G (p.Ile609Ser)
c.1781T>G (p.Ile594Ser)
c.*1218T>G (n.*1218T>G)
c.*1386T>G (n.*1386T>G)
c.1814T>G (p.Ile605Ser)
c.438T>G
c.*1283T>G (n.*1283T>G)
c.*281T>G (n.*281T>G)
c.1774T>G
n.773T>G
n.61T>G
n.794T>G
c.1634T>G (p.Ile545Ser)
c.*1080T>G (n.*1080T>G)
c.1670T>G (p.Ile557Ser)
n.288T>G
n.506T>G
c.421T>G (n.421T>G)
c.1181T>G (p.Ile394Ser)
c.1943T>G (p.Ile648Ser)
c.437T>G (p.Ile146Ser)
16g.2070521T>ACA492949780TSC2c.*329T>A (n.*329T>A)
c.1827T>A (p.Ile609=)
c.1782T>A (p.Ile594=)
c.*1219T>A (n.*1219T>A)
c.*1387T>A (n.*1387T>A)
c.1815T>A (p.Ile605=)
c.439T>A
c.*1284T>A (n.*1284T>A)
c.*282T>A (n.*282T>A)
c.1775T>A
n.774T>A
n.62T>A
n.795T>A
c.1635T>A (p.Ile545=)
c.*1081T>A (n.*1081T>A)
c.1671T>A (p.Ile557=)
n.289T>A
n.507T>A
c.422T>A (n.422T>A)
c.1182T>A (p.Ile394=)
c.1944T>A (p.Ile648=)
c.438T>A (p.Ile146=)
16g.2070521T>CCA492949781TSC2c.*329T>C (n.*329T>C)
c.1827T>C (p.Ile609=)
c.1782T>C (p.Ile594=)
c.*1219T>C (n.*1219T>C)
c.*1387T>C (n.*1387T>C)
c.1815T>C (p.Ile605=)
c.439T>C
c.*1284T>C (n.*1284T>C)
c.*282T>C (n.*282T>C)
c.1775T>C
n.774T>C
n.62T>C
n.795T>C
c.1635T>C (p.Ile545=)
c.*1081T>C (n.*1081T>C)
c.1671T>C (p.Ile557=)
n.289T>C
n.507T>C
c.422T>C (n.422T>C)
c.1182T>C (p.Ile394=)
c.1944T>C (p.Ile648=)
c.438T>C (p.Ile146=)
 ClinVar dbSNP
16g.2070521T>GCA394272911TSC2c.*329T>G (n.*329T>G)
c.1827T>G (p.Ile609Met)
c.1782T>G (p.Ile594Met)
c.*1219T>G (n.*1219T>G)
c.*1387T>G (n.*1387T>G)
c.1815T>G (p.Ile605Met)
c.439T>G
c.*1284T>G (n.*1284T>G)
c.*282T>G (n.*282T>G)
c.1775T>G
n.774T>G
n.62T>G
n.795T>G
c.1635T>G (p.Ile545Met)
c.*1081T>G (n.*1081T>G)
c.1671T>G (p.Ile557Met)
n.289T>G
n.507T>G
c.422T>G (n.422T>G)
c.1182T>G (p.Ile394Met)
c.1944T>G (p.Ile648Met)
c.438T>G (p.Ile146Met)
16g.2070521T=CA2202017870TSC2c.*329T= (n.*329T=)
c.1827T= (p.Ile609=)
c.1782T= (p.Ile594=)
c.*1219T= (n.*1219T=)
c.*1387T= (n.*1387T=)
c.1815T= (p.Ile605=)
c.439T=
c.*1284T= (n.*1284T=)
c.*282T= (n.*282T=)
c.1775T=
n.774T=
n.62T=
n.795T=
c.1635T= (p.Ile545=)
c.*1081T= (n.*1081T=)
c.1671T= (p.Ile557=)
n.289T=
n.507T=
c.422T= (n.422T=)
c.1182T= (p.Ile394=)
c.1944T= (p.Ile648=)
c.438T= (p.Ile146=)
16g.2070522C>ACA394272912TSC2c.*330C>A (n.*330C>A)
c.1828C>A (p.Gln610Lys)
c.1783C>A (p.Gln595Lys)
c.*1220C>A (n.*1220C>A)
c.*1388C>A (n.*1388C>A)
c.1816C>A (p.Gln606Lys)
c.440C>A
c.*1285C>A (n.*1285C>A)
c.*283C>A (n.*283C>A)
c.1776C>A
n.775C>A
n.63C>A
n.796C>A
c.1636C>A (p.Gln546Lys)
c.*1082C>A (n.*1082C>A)
c.1672C>A (p.Gln558Lys)
n.290C>A
n.508C>A
c.423C>A (n.423C>A)
c.1183C>A (p.Gln395Lys)
c.1945C>A (p.Gln649Lys)
c.439C>A (p.Gln147Lys)
 dbSNP
16g.2070522C=CA2202017881TSC2c.*330C= (n.*330C=)
c.1828C= (p.Gln610=)
c.1783C= (p.Gln595=)
c.*1220C= (n.*1220C=)
c.*1388C= (n.*1388C=)
c.1816C= (p.Gln606=)
c.440C=
c.*1285C= (n.*1285C=)
c.*283C= (n.*283C=)
c.1776C=
n.775C=
n.63C=
n.796C=
c.1636C= (p.Gln546=)
c.*1082C= (n.*1082C=)
c.1672C= (p.Gln558=)
n.290C=
n.508C=
c.423C= (n.423C=)
c.1183C= (p.Gln395=)
c.1945C= (p.Gln649=)
c.439C= (p.Gln147=)
16g.2070522C>GCA16614929TSC2c.*330C>G (n.*330C>G)
c.1828C>G (p.Gln610Glu)
c.1783C>G (p.Gln595Glu)
c.*1220C>G (n.*1220C>G)
c.*1388C>G (n.*1388C>G)
c.1816C>G (p.Gln606Glu)
c.440C>G
c.*1285C>G (n.*1285C>G)
c.*283C>G (n.*283C>G)
c.1776C>G
n.775C>G
n.63C>G
n.796C>G
c.1636C>G (p.Gln546Glu)
c.*1082C>G (n.*1082C>G)
c.1672C>G (p.Gln558Glu)
n.290C>G
n.508C>G
c.423C>G (n.423C>G)
c.1183C>G (p.Gln395Glu)
c.1945C>G (p.Gln649Glu)
c.439C>G (p.Gln147Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.2070522C>TCA015705TSC2c.*330C>T (n.*330C>T)
c.1828C>T (p.Gln610Ter)
c.1783C>T (p.Gln595Ter)
c.*1220C>T (n.*1220C>T)
c.*1388C>T (n.*1388C>T)
c.1816C>T (p.Gln606Ter)
c.440C>T
c.*1285C>T (n.*1285C>T)
c.*283C>T (n.*283C>T)
c.1776C>T
n.775C>T
n.63C>T
n.796C>T
c.1636C>T (p.Gln546Ter)
c.*1082C>T (n.*1082C>T)
c.1672C>T (p.Gln558Ter)
n.290C>T
n.508C>T
c.423C>T (n.423C>T)
c.1183C>T (p.Gln395Ter)
c.1945C>T (p.Gln649Ter)
c.439C>T (p.Gln147Ter)
 ClinVar dbSNP
16g.2070523A=CA2202017896TSC2c.*331A= (n.*331A=)
c.1829A= (p.Gln610=)
c.1784A= (p.Gln595=)
c.*1221A= (n.*1221A=)
c.*1389A= (n.*1389A=)
c.1817A= (p.Gln606=)
c.441A=
c.*1286A= (n.*1286A=)
c.*284A= (n.*284A=)
c.1777A=
n.776A=
n.64A=
n.797A=
c.1637A= (p.Gln546=)
c.*1083A= (n.*1083A=)
c.1673A= (p.Gln558=)
n.291A=
n.509A=
c.424A= (n.424A=)
c.1184A= (p.Gln395=)
c.1946A= (p.Gln649=)
c.440A= (p.Gln147=)
16g.2070523A>CCA033522TSC2c.*331A>C (n.*331A>C)
c.1829A>C (p.Gln610Pro)
c.1784A>C (p.Gln595Pro)
c.*1221A>C (n.*1221A>C)
c.*1389A>C (n.*1389A>C)
c.1817A>C (p.Gln606Pro)
c.441A>C
c.*1286A>C (n.*1286A>C)
c.*284A>C (n.*284A>C)
c.1777A>C
n.776A>C
n.64A>C
n.797A>C
c.1637A>C (p.Gln546Pro)
c.*1083A>C (n.*1083A>C)
c.1673A>C (p.Gln558Pro)
n.291A>C
n.509A>C
c.424A>C (n.424A>C)
c.1184A>C (p.Gln395Pro)
c.1946A>C (p.Gln649Pro)
c.440A>C (p.Gln147Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070523A>GCA394272913TSC2c.*331A>G (n.*331A>G)
c.1829A>G (p.Gln610Arg)
c.1784A>G (p.Gln595Arg)
c.*1221A>G (n.*1221A>G)
c.*1389A>G (n.*1389A>G)
c.1817A>G (p.Gln606Arg)
c.441A>G
c.*1286A>G (n.*1286A>G)
c.*284A>G (n.*284A>G)
c.1777A>G
n.776A>G
n.64A>G
n.797A>G
c.1637A>G (p.Gln546Arg)
c.*1083A>G (n.*1083A>G)
c.1673A>G (p.Gln558Arg)
n.291A>G
n.509A>G
c.424A>G (n.424A>G)
c.1184A>G (p.Gln395Arg)
c.1946A>G (p.Gln649Arg)
c.440A>G (p.Gln147Arg)
 dbSNP
16g.2070523A>TCA394272914TSC2c.*331A>T (n.*331A>T)
c.1829A>T (p.Gln610Leu)
c.1784A>T (p.Gln595Leu)
c.*1221A>T (n.*1221A>T)
c.*1389A>T (n.*1389A>T)
c.1817A>T (p.Gln606Leu)
c.441A>T
c.*1286A>T (n.*1286A>T)
c.*284A>T (n.*284A>T)
c.1777A>T
n.776A>T
n.64A>T
n.797A>T
c.1637A>T (p.Gln546Leu)
c.*1083A>T (n.*1083A>T)
c.1673A>T (p.Gln558Leu)
n.291A>T
n.509A>T
c.424A>T (n.424A>T)
c.1184A>T (p.Gln395Leu)
c.1946A>T (p.Gln649Leu)
c.440A>T (p.Gln147Leu)
 dbSNP
16g.2070524G>ACA015710TSC2c.*332G>A (n.*332G>A)
c.1830G>A (p.Gln610=)
c.1785G>A (p.Gln595=)
c.*1222G>A (n.*1222G>A)
c.*1390G>A (n.*1390G>A)
c.1818G>A (p.Gln606=)
c.442G>A
c.*1287G>A (n.*1287G>A)
c.*285G>A (n.*285G>A)
c.1778G>A
n.777G>A
n.65G>A
n.798G>A
c.1638G>A (p.Gln546=)
c.*1084G>A (n.*1084G>A)
c.1674G>A (p.Gln558=)
n.292G>A
n.510G>A
c.425G>A (n.425G>A)
c.1185G>A (p.Gln395=)
c.1947G>A (p.Gln649=)
c.441G>A (p.Gln147=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2070524G>CCA394272917TSC2c.*332G>C (n.*332G>C)
c.1830G>C (p.Gln610His)
c.1785G>C (p.Gln595His)
c.*1222G>C (n.*1222G>C)
c.*1390G>C (n.*1390G>C)
c.1818G>C (p.Gln606His)
c.442G>C
c.*1287G>C (n.*1287G>C)
c.*285G>C (n.*285G>C)
c.1778G>C
n.777G>C
n.65G>C
n.798G>C
c.1638G>C (p.Gln546His)
c.*1084G>C (n.*1084G>C)
c.1674G>C (p.Gln558His)
n.292G>C
n.510G>C
c.425G>C (n.425G>C)
c.1185G>C (p.Gln395His)
c.1947G>C (p.Gln649His)
c.441G>C (p.Gln147His)
 dbSNP
16g.2070524G=CA2202017900TSC2c.*332G= (n.*332G=)
c.1830G= (p.Gln610=)
c.1785G= (p.Gln595=)
c.*1222G= (n.*1222G=)
c.*1390G= (n.*1390G=)
c.1818G= (p.Gln606=)
c.442G=
c.*1287G= (n.*1287G=)
c.*285G= (n.*285G=)
c.1778G=
n.777G=
n.65G=
n.798G=
c.1638G= (p.Gln546=)
c.*1084G= (n.*1084G=)
c.1674G= (p.Gln558=)
n.292G=
n.510G=
c.425G= (n.425G=)
c.1185G= (p.Gln395=)
c.1947G= (p.Gln649=)
c.441G= (p.Gln147=)
16g.2070524G>TCA394272918TSC2c.*332G>T (n.*332G>T)
c.1830G>T (p.Gln610His)
c.1785G>T (p.Gln595His)
c.*1222G>T (n.*1222G>T)
c.*1390G>T (n.*1390G>T)
c.1818G>T (p.Gln606His)
c.442G>T
c.*1287G>T (n.*1287G>T)
c.*285G>T (n.*285G>T)
c.1778G>T
n.777G>T
n.65G>T
n.798G>T
c.1638G>T (p.Gln546His)
c.*1084G>T (n.*1084G>T)
c.1674G>T (p.Gln558His)
n.292G>T
n.510G>T
c.425G>T (n.425G>T)
c.1185G>T (p.Gln395His)
c.1947G>T (p.Gln649His)
c.441G>T (p.Gln147His)
16g.2070525C>ACA394272919TSC2c.*333C>A (n.*333C>A)
c.1831C>A (p.Leu611Ile)
c.1786C>A (p.Leu596Ile)
c.*1223C>A (n.*1223C>A)
c.*1391C>A (n.*1391C>A)
c.1819C>A (p.Leu607Ile)
c.443C>A
c.*1288C>A (n.*1288C>A)
c.*286C>A (n.*286C>A)
c.1779C>A
n.778C>A
n.66C>A
n.799C>A
c.1639C>A (p.Leu547Ile)
c.*1085C>A (n.*1085C>A)
c.1675C>A (p.Leu559Ile)
n.293C>A
n.511C>A
c.426C>A (n.426C>A)
c.1186C>A (p.Leu396Ile)
c.1948C>A (p.Leu650Ile)
c.442C>A (p.Leu148Ile)
 ClinVar dbSNP
16g.2070525C=CA2202017906TSC2c.*333C= (n.*333C=)
c.1831C= (p.Leu611=)
c.1786C= (p.Leu596=)
c.*1223C= (n.*1223C=)
c.*1391C= (n.*1391C=)
c.1819C= (p.Leu607=)
c.443C=
c.*1288C= (n.*1288C=)
c.*286C= (n.*286C=)
c.1779C=
n.778C=
n.66C=
n.799C=
c.1639C= (p.Leu547=)
c.*1085C= (n.*1085C=)
c.1675C= (p.Leu559=)
n.293C=
n.511C=
c.426C= (n.426C=)
c.1186C= (p.Leu396=)
c.1948C= (p.Leu650=)
c.442C= (p.Leu148=)
16g.2070525C>GCA394272920TSC2c.*333C>G (n.*333C>G)
c.1831C>G (p.Leu611Val)
c.1786C>G (p.Leu596Val)
c.*1223C>G (n.*1223C>G)
c.*1391C>G (n.*1391C>G)
c.1819C>G (p.Leu607Val)
c.443C>G
c.*1288C>G (n.*1288C>G)
c.*286C>G (n.*286C>G)
c.1779C>G
n.778C>G
n.66C>G
n.799C>G
c.1639C>G (p.Leu547Val)
c.*1085C>G (n.*1085C>G)
c.1675C>G (p.Leu559Val)
n.293C>G
n.511C>G
c.426C>G (n.426C>G)
c.1186C>G (p.Leu396Val)
c.1948C>G (p.Leu650Val)
c.442C>G (p.Leu148Val)
 dbSNP
16g.2070525C>TCA394272921TSC2c.*333C>T (n.*333C>T)
c.1831C>T (p.Leu611Phe)
c.1786C>T (p.Leu596Phe)
c.*1223C>T (n.*1223C>T)
c.*1391C>T (n.*1391C>T)
c.1819C>T (p.Leu607Phe)
c.443C>T
c.*1288C>T (n.*1288C>T)
c.*286C>T (n.*286C>T)
c.1779C>T
n.778C>T
n.66C>T
n.799C>T
c.1639C>T (p.Leu547Phe)
c.*1085C>T (n.*1085C>T)
c.1675C>T (p.Leu559Phe)
n.293C>T
n.511C>T
c.426C>T (n.426C>T)
c.1186C>T (p.Leu396Phe)
c.1948C>T (p.Leu650Phe)
c.442C>T (p.Leu148Phe)
 ClinVar gnomAD v4
16g.2070526T>ACA394272923TSC2c.*334T>A (n.*334T>A)
c.1832T>A (p.Leu611His)
c.1787T>A (p.Leu596His)
c.*1224T>A (n.*1224T>A)
c.*1392T>A (n.*1392T>A)
c.1820T>A (p.Leu607His)
c.444T>A
c.*1289T>A (n.*1289T>A)
c.*287T>A (n.*287T>A)
c.1780T>A
n.779T>A
n.67T>A
n.800T>A
c.1640T>A (p.Leu547His)
c.*1086T>A (n.*1086T>A)
c.1676T>A (p.Leu559His)
n.294T>A
n.512T>A
c.427T>A (n.427T>A)
c.1187T>A (p.Leu396His)
c.1949T>A (p.Leu650His)
c.443T>A (p.Leu148His)
 ClinVar dbSNP
16g.2070526T>CCA015721TSC2c.*334T>C (n.*334T>C)
c.1832T>C (p.Leu611Pro)
c.1787T>C (p.Leu596Pro)
c.*1224T>C (n.*1224T>C)
c.*1392T>C (n.*1392T>C)
c.1820T>C (p.Leu607Pro)
c.444T>C
c.*1289T>C (n.*1289T>C)
c.*287T>C (n.*287T>C)
c.1780T>C
n.779T>C
n.67T>C
n.800T>C
c.1640T>C (p.Leu547Pro)
c.*1086T>C (n.*1086T>C)
c.1676T>C (p.Leu559Pro)
n.294T>C
n.512T>C
c.427T>C (n.427T>C)
c.1187T>C (p.Leu396Pro)
c.1949T>C (p.Leu650Pro)
c.443T>C (p.Leu148Pro)
 ClinVar dbSNP
16g.2070526T>GCA394272922TSC2c.*334T>G (n.*334T>G)
c.1832T>G (p.Leu611Arg)
c.1787T>G (p.Leu596Arg)
c.*1224T>G (n.*1224T>G)
c.*1392T>G (n.*1392T>G)
c.1820T>G (p.Leu607Arg)
c.444T>G
c.*1289T>G (n.*1289T>G)
c.*287T>G (n.*287T>G)
c.1780T>G
n.779T>G
n.67T>G
n.800T>G
c.1640T>G (p.Leu547Arg)
c.*1086T>G (n.*1086T>G)
c.1676T>G (p.Leu559Arg)
n.294T>G
n.512T>G
c.427T>G (n.427T>G)
c.1187T>G (p.Leu396Arg)
c.1949T>G (p.Leu650Arg)
c.443T>G (p.Leu148Arg)
16g.2070526T=CA2202017912TSC2c.*334T= (n.*334T=)
c.1832T= (p.Leu611=)
c.1787T= (p.Leu596=)
c.*1224T= (n.*1224T=)
c.*1392T= (n.*1392T=)
c.1820T= (p.Leu607=)
c.444T=
c.*1289T= (n.*1289T=)
c.*287T= (n.*287T=)
c.1780T=
n.779T=
n.67T=
n.800T=
c.1640T= (p.Leu547=)
c.*1086T= (n.*1086T=)
c.1676T= (p.Leu559=)
n.294T=
n.512T=
c.427T= (n.427T=)
c.1187T= (p.Leu396=)
c.1949T= (p.Leu650=)
c.443T= (p.Leu148=)
16g.2070527C>ACA492949792TSC2c.*335C>A (n.*335C>A)
c.1833C>A (p.Leu611=)
c.1788C>A (p.Leu596=)
c.*1225C>A (n.*1225C>A)
c.*1393C>A (n.*1393C>A)
c.1821C>A (p.Leu607=)
c.445C>A
c.*1290C>A (n.*1290C>A)
c.*288C>A (n.*288C>A)
c.1781C>A
n.780C>A
n.68C>A
n.801C>A
c.1641C>A (p.Leu547=)
c.*1087C>A (n.*1087C>A)
c.1677C>A (p.Leu559=)
n.295C>A
n.513C>A
c.428C>A (n.428C>A)
c.1188C>A (p.Leu396=)
c.1950C>A (p.Leu650=)
c.444C>A (p.Leu148=)
16g.2070527C>GCA492949791TSC2c.*335C>G (n.*335C>G)
c.1833C>G (p.Leu611=)
c.1788C>G (p.Leu596=)
c.*1225C>G (n.*1225C>G)
c.*1393C>G (n.*1393C>G)
c.1821C>G (p.Leu607=)
c.445C>G
c.*1290C>G (n.*1290C>G)
c.*288C>G (n.*288C>G)
c.1781C>G
n.780C>G
n.68C>G
n.801C>G
c.1641C>G (p.Leu547=)
c.*1087C>G (n.*1087C>G)
c.1677C>G (p.Leu559=)
n.295C>G
n.513C>G
c.428C>G (n.428C>G)
c.1188C>G (p.Leu396=)
c.1950C>G (p.Leu650=)
c.444C>G (p.Leu148=)
 ClinVar dbSNP
16g.2070527C>TCA492949794TSC2c.*335C>T (n.*335C>T)
c.1833C>T (p.Leu611=)
c.1788C>T (p.Leu596=)
c.*1225C>T (n.*1225C>T)
c.*1393C>T (n.*1393C>T)
c.1821C>T (p.Leu607=)
c.445C>T
c.*1290C>T (n.*1290C>T)
c.*288C>T (n.*288C>T)
c.1781C>T
n.780C>T
n.68C>T
n.801C>T
c.1641C>T (p.Leu547=)
c.*1087C>T (n.*1087C>T)
c.1677C>T (p.Leu559=)
n.295C>T
n.513C>T
c.428C>T (n.428C>T)
c.1188C>T (p.Leu396=)
c.1950C>T (p.Leu650=)
c.444C>T (p.Leu148=)
16g.2070528dupCA276735731TSC2c.*336dup (n.*336dup)
c.1834dup (p.His612ProfsTer20)
c.1789dup (p.His597ProfsTer20)
c.*1226dup (n.*1226dup)
c.*1394dup (n.*1394dup)
c.1822dup (p.His608ProfsTer20)
c.446dup
c.*1291dup (n.*1291dup)
c.*289dup (n.*289dup)
c.1782dup
n.781dup
n.69dup
n.802dup
c.1642dup (p.His548ProfsTer20)
c.*1088dup (n.*1088dup)
c.1678dup (p.His560ProfsTer20)
n.296dup
n.514dup
c.429dup (n.429dup)
c.1189dup (p.His397ProfsTer20)
c.1951dup (p.His651ProfsTer20)
c.445dup (p.His149ProfsTer20)
 ClinVar dbSNP
16g.2070528_2070530dupCA015762TSC2c.*336_*338dup (n.*336_*338dup)
c.1834_1836dup (p.His612_Tyr613insHis)
c.1789_1791dup (p.His597_Tyr598insHis)
c.*1226_*1228dup (n.*1226_*1228dup)
c.*1394_*1396dup (n.*1394_*1396dup)
c.1822_1824dup (p.His608_Tyr609insHis)
c.446_448dup
c.*1291_*1293dup (n.*1291_*1293dup)
c.*289_*291dup (n.*289_*291dup)
c.1782_1784dup
n.781_783dup
n.69_71dup
n.802_804dup
c.1642_1644dup (p.His548_Tyr549insHis)
c.*1088_*1090dup (n.*1088_*1090dup)
c.1678_1680dup (p.His560_Tyr561insHis)
n.296_298dup
n.514_516dup
c.429_431dup (n.429_431dup)
c.1189_1191dup (p.His397_Tyr398insHis)
c.1951_1953dup (p.His651_Tyr652insHis)
c.445_447dup (p.His149_Tyr150insHis)
 ClinVar dbSNP
16g.2070527_2070532delinsCCACTACA2202017925TSC2c.*335_*340delinsCCACTA (n.*335_*340delinsCCACTA)
c.1833_1838delinsCCACTA (p.Leu611=)
c.1788_1793delinsCCACTA (p.Leu596=)
c.*1225_*1230delinsCCACTA (n.*1225_*1230delinsCCACTA)
c.*1393_*1398delinsCCACTA (n.*1393_*1398delinsCCACTA)
c.1821_1826delinsCCACTA (p.Leu607=)
c.445_450delinsCCACTA
c.*1290_*1295delinsCCACTA (n.*1290_*1295delinsCCACTA)
c.*288_*293delinsCCACTA (n.*288_*293delinsCCACTA)
c.1781_1786delinsCCACTA
n.780_785delinsCCACTA
n.68_73delinsCCACTA
n.801_806delinsCCACTA
c.1641_1646delinsCCACTA (p.Leu547=)
c.*1087_*1092delinsCCACTA (n.*1087_*1092delinsCCACTA)
c.1677_1682delinsCCACTA (p.Leu559=)
n.295_300delinsCCACTA
n.513_518delinsCCACTA
c.428_433delinsCCACTA (n.428_433delinsCCACTA)
c.1188_1193delinsCCACTA (p.Leu396=)
c.1950_1955delinsCCACTA (p.Leu650=)
c.444_449delinsCCACTA (p.Leu148=)
16g.2070528C>ACA394272924TSC2c.*336C>A (n.*336C>A)
c.1834C>A (p.His612Asn)
c.1789C>A (p.His597Asn)
c.*1226C>A (n.*1226C>A)
c.*1394C>A (n.*1394C>A)
c.1822C>A (p.His608Asn)
c.446C>A
c.*1291C>A (n.*1291C>A)
c.*289C>A (n.*289C>A)
c.1782C>A
n.781C>A
n.69C>A
n.802C>A
c.1642C>A (p.His548Asn)
c.*1088C>A (n.*1088C>A)
c.1678C>A (p.His560Asn)
n.296C>A
n.514C>A
c.429C>A (n.429C>A)
c.1189C>A (p.His397Asn)
c.1951C>A (p.His651Asn)
c.445C>A (p.His149Asn)
16g.2070528C=CA2202017934TSC2c.*336C= (n.*336C=)
c.1834C= (p.His612=)
c.1789C= (p.His597=)
c.*1226C= (n.*1226C=)
c.*1394C= (n.*1394C=)
c.1822C= (p.His608=)
c.446C=
c.*1291C= (n.*1291C=)
c.*289C= (n.*289C=)
c.1782C=
n.781C=
n.69C=
n.802C=
c.1642C= (p.His548=)
c.*1088C= (n.*1088C=)
c.1678C= (p.His560=)
n.296C=
n.514C=
c.429C= (n.429C=)
c.1189C= (p.His397=)
c.1951C= (p.His651=)
c.445C= (p.His149=)
16g.2070528C>GCA394272925TSC2c.*336C>G (n.*336C>G)
c.1834C>G (p.His612Asp)
c.1789C>G (p.His597Asp)
c.*1226C>G (n.*1226C>G)
c.*1394C>G (n.*1394C>G)
c.1822C>G (p.His608Asp)
c.446C>G
c.*1291C>G (n.*1291C>G)
c.*289C>G (n.*289C>G)
c.1782C>G
n.781C>G
n.69C>G
n.802C>G
c.1642C>G (p.His548Asp)
c.*1088C>G (n.*1088C>G)
c.1678C>G (p.His560Asp)
n.296C>G
n.514C>G
c.429C>G (n.429C>G)
c.1189C>G (p.His397Asp)
c.1951C>G (p.His651Asp)
c.445C>G (p.His149Asp)
16g.2070528C>TCA015730TSC2c.*336C>T (n.*336C>T)
c.1834C>T (p.His612Tyr)
c.1789C>T (p.His597Tyr)
c.*1226C>T (n.*1226C>T)
c.*1394C>T (n.*1394C>T)
c.1822C>T (p.His608Tyr)
c.446C>T
c.*1291C>T (n.*1291C>T)
c.*289C>T (n.*289C>T)
c.1782C>T
n.781C>T
n.69C>T
n.802C>T
c.1642C>T (p.His548Tyr)
c.*1088C>T (n.*1088C>T)
c.1678C>T (p.His560Tyr)
n.296C>T
n.514C>T
c.429C>T (n.429C>T)
c.1189C>T (p.His397Tyr)
c.1951C>T (p.His651Tyr)
c.445C>T (p.His149Tyr)
 ClinVar dbSNP
16g.2070528_2070531delinsCACTCA2202017937TSC2c.*336_*339delinsCACT (n.*336_*339delinsCACT)
c.1834_1837delinsCACT (p.His612=)
c.1789_1792delinsCACT (p.His597=)
c.*1226_*1229delinsCACT (n.*1226_*1229delinsCACT)
c.*1394_*1397delinsCACT (n.*1394_*1397delinsCACT)
c.1822_1825delinsCACT (p.His608=)
c.446_449delinsCACT
c.*1291_*1294delinsCACT (n.*1291_*1294delinsCACT)
c.*289_*292delinsCACT (n.*289_*292delinsCACT)
c.1782_1785delinsCACT
n.781_784delinsCACT
n.69_72delinsCACT
n.802_805delinsCACT
c.1642_1645delinsCACT (p.His548=)
c.*1088_*1091delinsCACT (n.*1088_*1091delinsCACT)
c.1678_1681delinsCACT (p.His560=)
n.296_299delinsCACT
n.514_517delinsCACT
c.429_432delinsCACT (n.429_432delinsCACT)
c.1189_1192delinsCACT (p.His397=)
c.1951_1954delinsCACT (p.His651=)
c.445_448delinsCACT (p.His149=)
16g.2070530_2070534delCA015738TSC2c.*338_*342del (n.*338_*342del)
c.1836_1840del (p.His612GlnfsTer18)
c.1791_1795del (p.His597GlnfsTer18)
c.*1228_*1232del (n.*1228_*1232del)
c.*1396_*1400del (n.*1396_*1400del)
c.1824_1828del (p.His608GlnfsTer18)
c.448_452del
c.*1293_*1297del (n.*1293_*1297del)
c.*291_*295del (n.*291_*295del)
c.1784_1788del
n.783_787del
n.71_75del
n.804_808del
c.1644_1648del (p.His548GlnfsTer18)
c.*1090_*1094del (n.*1090_*1094del)
c.1680_1684del (p.His560GlnfsTer18)
n.298_302del
n.516_520del
c.431_435del (n.431_435del)
c.1191_1195del (p.His397GlnfsTer18)
c.1953_1957del (p.His651GlnfsTer18)
c.447_451del (p.His149GlnfsTer18)
 ClinVar dbSNP
16g.2070529A=CA2202017949TSC2c.*337A= (n.*337A=)
c.1835A= (p.His612=)
c.1790A= (p.His597=)
c.*1227A= (n.*1227A=)
c.*1395A= (n.*1395A=)
c.1823A= (p.His608=)
c.447A=
c.*1292A= (n.*1292A=)
c.*290A= (n.*290A=)
c.1783A=
n.782A=
n.70A=
n.803A=
c.1643A= (p.His548=)
c.*1089A= (n.*1089A=)
c.1679A= (p.His560=)
n.297A=
n.515A=
c.430A= (n.430A=)
c.1190A= (p.His397=)
c.1952A= (p.His651=)
c.446A= (p.His149=)
16g.2070529A>CCA394272926TSC2c.*337A>C (n.*337A>C)
c.1835A>C (p.His612Pro)
c.1790A>C (p.His597Pro)
c.*1227A>C (n.*1227A>C)
c.*1395A>C (n.*1395A>C)
c.1823A>C (p.His608Pro)
c.447A>C
c.*1292A>C (n.*1292A>C)
c.*290A>C (n.*290A>C)
c.1783A>C
n.782A>C
n.70A>C
n.803A>C
c.1643A>C (p.His548Pro)
c.*1089A>C (n.*1089A>C)
c.1679A>C (p.His560Pro)
n.297A>C
n.515A>C
c.430A>C (n.430A>C)
c.1190A>C (p.His397Pro)
c.1952A>C (p.His651Pro)
c.446A>C (p.His149Pro)
16g.2070529A>GCA015754TSC2c.*337A>G (n.*337A>G)
c.1835A>G (p.His612Arg)
c.1790A>G (p.His597Arg)
c.*1227A>G (n.*1227A>G)
c.*1395A>G (n.*1395A>G)
c.1823A>G (p.His608Arg)
c.447A>G
c.*1292A>G (n.*1292A>G)
c.*290A>G (n.*290A>G)
c.1783A>G
n.782A>G
n.70A>G
n.803A>G
c.1643A>G (p.His548Arg)
c.*1089A>G (n.*1089A>G)
c.1679A>G (p.His560Arg)
n.297A>G
n.515A>G
c.430A>G (n.430A>G)
c.1190A>G (p.His397Arg)
c.1952A>G (p.His651Arg)
c.446A>G (p.His149Arg)
 ClinVar dbSNP
16g.2070529A>TCA394272927TSC2c.*337A>T (n.*337A>T)
c.1835A>T (p.His612Leu)
c.1790A>T (p.His597Leu)
c.*1227A>T (n.*1227A>T)
c.*1395A>T (n.*1395A>T)
c.1823A>T (p.His608Leu)
c.447A>T
c.*1292A>T (n.*1292A>T)
c.*290A>T (n.*290A>T)
c.1783A>T
n.782A>T
n.70A>T
n.803A>T
c.1643A>T (p.His548Leu)
c.*1089A>T (n.*1089A>T)
c.1679A>T (p.His560Leu)
n.297A>T
n.515A>T
c.430A>T (n.430A>T)
c.1190A>T (p.His397Leu)
c.1952A>T (p.His651Leu)
c.446A>T (p.His149Leu)
 ClinVar dbSNP
16g.2070531_2070533delCA015768TSC2c.*339_*341del (n.*339_*341del)
c.1837_1839del (p.Tyr613del)
c.1792_1794del (p.Tyr598del)
c.*1229_*1231del (n.*1229_*1231del)
c.*1397_*1399del (n.*1397_*1399del)
c.1825_1827del (p.Tyr609del)
c.449_451del
c.*1294_*1296del (n.*1294_*1296del)
c.*292_*294del (n.*292_*294del)
c.1785_1787del
n.784_786del
n.72_74del
n.805_807del
c.1645_1647del (p.Tyr549del)
c.*1091_*1093del (n.*1091_*1093del)
c.1681_1683del (p.Tyr561del)
n.299_301del
n.517_519del
c.432_434del (n.432_434del)
c.1192_1194del (p.Tyr398del)
c.1954_1956del (p.Tyr652del)
c.448_450del (p.Tyr150del)
 ClinVar dbSNP
16g.2070530delCA2580090582TSC2c.*338del (n.*338del)
c.1836del (p.Tyr613ThrfsTer?)
c.1791del (p.Tyr598ThrfsTer?)
c.*1228del (n.*1228del)
c.*1396del (n.*1396del)
c.1824del (p.Tyr609ThrfsTer?)
c.448del
c.*1293del (n.*1293del)
c.*291del (n.*291del)
c.1784del
n.783del
n.71del
n.804del
c.1644del (p.Tyr549ThrfsTer?)
c.*1090del (n.*1090del)
c.1680del (p.Tyr561ThrfsTer?)
n.298del
n.516del
c.431del (n.431del)
c.1191del (p.Tyr398ThrfsTer?)
c.1953del (p.Tyr652ThrfsTer?)
c.447del (p.Tyr150ThrfsTer?)
 ClinVar
16g.2070530C>ACA394272928TSC2c.*338C>A (n.*338C>A)
c.1836C>A (p.His612Gln)
c.1791C>A (p.His597Gln)
c.*1228C>A (n.*1228C>A)
c.*1396C>A (n.*1396C>A)
c.1824C>A (p.His608Gln)
c.448C>A
c.*1293C>A (n.*1293C>A)
c.*291C>A (n.*291C>A)
c.1784C>A
n.783C>A
n.71C>A
n.804C>A
c.1644C>A (p.His548Gln)
c.*1090C>A (n.*1090C>A)
c.1680C>A (p.His560Gln)
n.298C>A
n.516C>A
c.431C>A (n.431C>A)
c.1191C>A (p.His397Gln)
c.1953C>A (p.His651Gln)
c.447C>A (p.His149Gln)
16g.2070530C=CA2202017957TSC2c.*338C= (n.*338C=)
c.1836C= (p.His612=)
c.1791C= (p.His597=)
c.*1228C= (n.*1228C=)
c.*1396C= (n.*1396C=)
c.1824C= (p.His608=)
c.448C=
c.*1293C= (n.*1293C=)
c.*291C= (n.*291C=)
c.1784C=
n.783C=
n.71C=
n.804C=
c.1644C= (p.His548=)
c.*1090C= (n.*1090C=)
c.1680C= (p.His560=)
n.298C=
n.516C=
c.431C= (n.431C=)
c.1191C= (p.His397=)
c.1953C= (p.His651=)
c.447C= (p.His149=)
16g.2070530C>GCA10587224TSC2c.*338C>G (n.*338C>G)
c.1836C>G (p.His612Gln)
c.1791C>G (p.His597Gln)
c.*1228C>G (n.*1228C>G)
c.*1396C>G (n.*1396C>G)
c.1824C>G (p.His608Gln)
c.448C>G
c.*1293C>G (n.*1293C>G)
c.*291C>G (n.*291C>G)
c.1784C>G
n.783C>G
n.71C>G
n.804C>G
c.1644C>G (p.His548Gln)
c.*1090C>G (n.*1090C>G)
c.1680C>G (p.His560Gln)
n.298C>G
n.516C>G
c.431C>G (n.431C>G)
c.1191C>G (p.His397Gln)
c.1953C>G (p.His651Gln)
c.447C>G (p.His149Gln)
 ClinVar dbSNP
16g.2070530C>TCA16614717TSC2c.*338C>T (n.*338C>T)
c.1836C>T (p.His612=)
c.1791C>T (p.His597=)
c.*1228C>T (n.*1228C>T)
c.*1396C>T (n.*1396C>T)
c.1824C>T (p.His608=)
c.448C>T
c.*1293C>T (n.*1293C>T)
c.*291C>T (n.*291C>T)
c.1784C>T
n.783C>T
n.71C>T
n.804C>T
c.1644C>T (p.His548=)
c.*1090C>T (n.*1090C>T)
c.1680C>T (p.His560=)
n.298C>T
n.516C>T
c.431C>T (n.431C>T)
c.1191C>T (p.His397=)
c.1953C>T (p.His651=)
c.447C>T (p.His149=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2070531T>ACA394272929TSC2c.*339T>A (n.*339T>A)
c.1837T>A (p.Tyr613Asn)
c.1792T>A (p.Tyr598Asn)
c.*1229T>A (n.*1229T>A)
c.*1397T>A (n.*1397T>A)
c.1825T>A (p.Tyr609Asn)
c.449T>A
c.*1294T>A (n.*1294T>A)
c.*292T>A (n.*292T>A)
c.1785T>A
n.784T>A
n.72T>A
n.805T>A
c.1645T>A (p.Tyr549Asn)
c.*1091T>A (n.*1091T>A)
c.1681T>A (p.Tyr561Asn)
n.299T>A
n.517T>A
c.432T>A (n.432T>A)
c.1192T>A (p.Tyr398Asn)
c.1954T>A (p.Tyr652Asn)
c.448T>A (p.Tyr150Asn)
 dbSNP
16g.2070531T>CCA015786TSC2c.*339T>C (n.*339T>C)
c.1837T>C (p.Tyr613His)
c.1792T>C (p.Tyr598His)
c.*1229T>C (n.*1229T>C)
c.*1397T>C (n.*1397T>C)
c.1825T>C (p.Tyr609His)
c.449T>C
c.*1294T>C (n.*1294T>C)
c.*292T>C (n.*292T>C)
c.1785T>C
n.784T>C
n.72T>C
n.805T>C
c.1645T>C (p.Tyr549His)
c.*1091T>C (n.*1091T>C)
c.1681T>C (p.Tyr561His)
n.299T>C
n.517T>C
c.432T>C (n.432T>C)
c.1192T>C (p.Tyr398His)
c.1954T>C (p.Tyr652His)
c.448T>C (p.Tyr150His)
 ClinVar dbSNP
16g.2070531T>GCA394272930TSC2c.*339T>G (n.*339T>G)
c.1837T>G (p.Tyr613Asp)
c.1792T>G (p.Tyr598Asp)
c.*1229T>G (n.*1229T>G)
c.*1397T>G (n.*1397T>G)
c.1825T>G (p.Tyr609Asp)
c.449T>G
c.*1294T>G (n.*1294T>G)
c.*292T>G (n.*292T>G)
c.1785T>G
n.784T>G
n.72T>G
n.805T>G
c.1645T>G (p.Tyr549Asp)
c.*1091T>G (n.*1091T>G)
c.1681T>G (p.Tyr561Asp)
n.299T>G
n.517T>G
c.432T>G (n.432T>G)
c.1192T>G (p.Tyr398Asp)
c.1954T>G (p.Tyr652Asp)
c.448T>G (p.Tyr150Asp)
16g.2070531T=CA2202017964TSC2c.*339T= (n.*339T=)
c.1837T= (p.Tyr613=)
c.1792T= (p.Tyr598=)
c.*1229T= (n.*1229T=)
c.*1397T= (n.*1397T=)
c.1825T= (p.Tyr609=)
c.449T=
c.*1294T= (n.*1294T=)
c.*292T= (n.*292T=)
c.1785T=
n.784T=
n.72T=
n.805T=
c.1645T= (p.Tyr549=)
c.*1091T= (n.*1091T=)
c.1681T= (p.Tyr561=)
n.299T=
n.517T=
c.432T= (n.432T=)
c.1192T= (p.Tyr398=)
c.1954T= (p.Tyr652=)
c.448T= (p.Tyr150=)
16g.2070532A=CA2202017971TSC2c.*340A= (n.*340A=)
c.1838A= (p.Tyr613=)
c.1793A= (p.Tyr598=)
c.*1230A= (n.*1230A=)
c.*1398A= (n.*1398A=)
c.1826A= (p.Tyr609=)
c.450A=
c.*1295A= (n.*1295A=)
c.*293A= (n.*293A=)
c.1786A=
n.785A=
n.73A=
n.806A=
c.1646A= (p.Tyr549=)
c.*1092A= (n.*1092A=)
c.1682A= (p.Tyr561=)
n.300A=
n.518A=
c.433A= (n.433A=)
c.1193A= (p.Tyr398=)
c.1955A= (p.Tyr652=)
c.449A= (p.Tyr150=)
16g.2070532A>CCA394272932TSC2c.*340A>C (n.*340A>C)
c.1838A>C (p.Tyr613Ser)
c.1793A>C (p.Tyr598Ser)
c.*1230A>C (n.*1230A>C)
c.*1398A>C (n.*1398A>C)
c.1826A>C (p.Tyr609Ser)
c.450A>C
c.*1295A>C (n.*1295A>C)
c.*293A>C (n.*293A>C)
c.1786A>C
n.785A>C
n.73A>C
n.806A>C
c.1646A>C (p.Tyr549Ser)
c.*1092A>C (n.*1092A>C)
c.1682A>C (p.Tyr561Ser)
n.300A>C
n.518A>C
c.433A>C (n.433A>C)
c.1193A>C (p.Tyr398Ser)
c.1955A>C (p.Tyr652Ser)
c.449A>C (p.Tyr150Ser)
 dbSNP
16g.2070532A>GCA015795TSC2c.*340A>G (n.*340A>G)
c.1838A>G (p.Tyr613Cys)
c.1793A>G (p.Tyr598Cys)
c.*1230A>G (n.*1230A>G)
c.*1398A>G (n.*1398A>G)
c.1826A>G (p.Tyr609Cys)
c.450A>G
c.*1295A>G (n.*1295A>G)
c.*293A>G (n.*293A>G)
c.1786A>G
n.785A>G
n.73A>G
n.806A>G
c.1646A>G (p.Tyr549Cys)
c.*1092A>G (n.*1092A>G)
c.1682A>G (p.Tyr561Cys)
n.300A>G
n.518A>G
c.433A>G (n.433A>G)
c.1193A>G (p.Tyr398Cys)
c.1955A>G (p.Tyr652Cys)
c.449A>G (p.Tyr150Cys)
 ClinVar dbSNP
16g.2070532A>TCA394272931TSC2c.*340A>T (n.*340A>T)
c.1838A>T (p.Tyr613Phe)
c.1793A>T (p.Tyr598Phe)
c.*1230A>T (n.*1230A>T)
c.*1398A>T (n.*1398A>T)
c.1826A>T (p.Tyr609Phe)
c.450A>T
c.*1295A>T (n.*1295A>T)
c.*293A>T (n.*293A>T)
c.1786A>T
n.785A>T
n.73A>T
n.806A>T
c.1646A>T (p.Tyr549Phe)
c.*1092A>T (n.*1092A>T)
c.1682A>T (p.Tyr561Phe)
n.300A>T
n.518A>T
c.433A>T (n.433A>T)
c.1193A>T (p.Tyr398Phe)
c.1955A>T (p.Tyr652Phe)
c.449A>T (p.Tyr150Phe)
 ClinVar dbSNP gnomAD v4
16g.2070533C>ACA394272933TSC2c.*341C>A (n.*341C>A)
c.1839C>A (p.Tyr613Ter)
c.1794C>A (p.Tyr598Ter)
c.*1231C>A (n.*1231C>A)
c.*1399C>A (n.*1399C>A)
c.1827C>A (p.Tyr609Ter)
c.451C>A
c.*1296C>A (n.*1296C>A)
c.*294C>A (n.*294C>A)
c.1787C>A
n.786C>A
n.74C>A
n.807C>A
c.1647C>A (p.Tyr549Ter)
c.*1093C>A (n.*1093C>A)
c.1683C>A (p.Tyr561Ter)
n.301C>A
n.519C>A
c.434C>A (n.434C>A)
c.1194C>A (p.Tyr398Ter)
c.1956C>A (p.Tyr652Ter)
c.450C>A (p.Tyr150Ter)
 dbSNP
16g.2070533C=CA2202017980TSC2c.*341C= (n.*341C=)
c.1839C= (p.Tyr613=)
c.1794C= (p.Tyr598=)
c.*1231C= (n.*1231C=)
c.*1399C= (n.*1399C=)
c.1827C= (p.Tyr609=)
c.451C=
c.*1296C= (n.*1296C=)
c.*294C= (n.*294C=)
c.1787C=
n.786C=
n.74C=
n.807C=
c.1647C= (p.Tyr549=)
c.*1093C= (n.*1093C=)
c.1683C= (p.Tyr561=)
n.301C=
n.519C=
c.434C= (n.434C=)
c.1194C= (p.Tyr398=)
c.1956C= (p.Tyr652=)
c.450C= (p.Tyr150=)
16g.2070533C>GCA015804TSC2c.*341C>G (n.*341C>G)
c.1839C>G (p.Tyr613Ter)
c.1794C>G (p.Tyr598Ter)
c.*1231C>G (n.*1231C>G)
c.*1399C>G (n.*1399C>G)
c.1827C>G (p.Tyr609Ter)
c.451C>G
c.*1296C>G (n.*1296C>G)
c.*294C>G (n.*294C>G)
c.1787C>G
n.786C>G
n.74C>G
n.807C>G
c.1647C>G (p.Tyr549Ter)
c.*1093C>G (n.*1093C>G)
c.1683C>G (p.Tyr561Ter)
n.301C>G
n.519C>G
c.434C>G (n.434C>G)
c.1194C>G (p.Tyr398Ter)
c.1956C>G (p.Tyr652Ter)
c.450C>G (p.Tyr150Ter)
 ClinVar dbSNP
16g.2070533C>TCA015814TSC2c.*341C>T (n.*341C>T)
c.1839C>T (p.Tyr613=)
c.1794C>T (p.Tyr598=)
c.*1231C>T (n.*1231C>T)
c.*1399C>T (n.*1399C>T)
c.1827C>T (p.Tyr609=)
c.451C>T
c.*1296C>T (n.*1296C>T)
c.*294C>T (n.*294C>T)
c.1787C>T
n.786C>T
n.74C>T
n.807C>T
c.1647C>T (p.Tyr549=)
c.*1093C>T (n.*1093C>T)
c.1683C>T (p.Tyr561=)
n.301C>T
n.519C>T
c.434C>T (n.434C>T)
c.1194C>T (p.Tyr398=)
c.1956C>T (p.Tyr652=)
c.450C>T (p.Tyr150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2070533_2070534delinsCACA2202017982TSC2c.*341_*342delinsCA (n.*341_*342delinsCA)
c.1839_1840delinsCA (p.Tyr613=)
c.1794_1795delinsCA (p.Tyr598=)
c.*1231_*1232delinsCA (n.*1231_*1232delinsCA)
c.*1399_*1400delinsCA (n.*1399_*1400delinsCA)
c.1827_1828delinsCA (p.Tyr609=)
c.451_452delinsCA
c.*1296_*1297delinsCA (n.*1296_*1297delinsCA)
c.*294_*295delinsCA (n.*294_*295delinsCA)
c.1787_1788delinsCA
n.786_787delinsCA
n.74_75delinsCA
n.807_808delinsCA
c.1647_1648delinsCA (p.Tyr549=)
c.*1093_*1094delinsCA (n.*1093_*1094delinsCA)
c.1683_1684delinsCA (p.Tyr561=)
n.301_302delinsCA
n.519_520delinsCA
c.434_435delinsCA (n.434_435delinsCA)
c.1194_1195delinsCA (p.Tyr398=)
c.1956_1957delinsCA (p.Tyr652=)
c.450_451delinsCA (p.Tyr150=)
16g.2070534A=CA2202017994TSC2c.*342A= (n.*342A=)
c.1840A= (p.Lys614=)
c.1795A= (p.Lys599=)
c.*1232A= (n.*1232A=)
c.*1400A= (n.*1400A=)
c.1828A= (p.Lys610=)
c.452A=
c.*1297A= (n.*1297A=)
c.*295A= (n.*295A=)
c.1788A=
n.787A=
n.75A=
n.808A=
c.1648A= (p.Lys550=)
c.*1094A= (n.*1094A=)
c.1684A= (p.Lys562=)
n.302A=
n.520A=
c.435A= (n.435A=)
c.1195A= (p.Lys399=)
c.1957A= (p.Lys653=)
c.451A= (p.Lys151=)
16g.2070534A>CCA394272934TSC2c.*342A>C (n.*342A>C)
c.1840A>C (p.Lys614Gln)
c.1795A>C (p.Lys599Gln)
c.*1232A>C (n.*1232A>C)
c.*1400A>C (n.*1400A>C)
c.1828A>C (p.Lys610Gln)
c.452A>C
c.*1297A>C (n.*1297A>C)
c.*295A>C (n.*295A>C)
c.1788A>C
n.787A>C
n.75A>C
n.808A>C
c.1648A>C (p.Lys550Gln)
c.*1094A>C (n.*1094A>C)
c.1684A>C (p.Lys562Gln)
n.302A>C
n.520A>C
c.435A>C (n.435A>C)
c.1195A>C (p.Lys399Gln)
c.1957A>C (p.Lys653Gln)
c.451A>C (p.Lys151Gln)
16g.2070534A>GCA394272935TSC2c.*342A>G (n.*342A>G)
c.1840A>G (p.Lys614Glu)
c.1795A>G (p.Lys599Glu)
c.*1232A>G (n.*1232A>G)
c.*1400A>G (n.*1400A>G)
c.1828A>G (p.Lys610Glu)
c.452A>G
c.*1297A>G (n.*1297A>G)
c.*295A>G (n.*295A>G)
c.1788A>G
n.787A>G
n.75A>G
n.808A>G
c.1648A>G (p.Lys550Glu)
c.*1094A>G (n.*1094A>G)
c.1684A>G (p.Lys562Glu)
n.302A>G
n.520A>G
c.435A>G (n.435A>G)
c.1195A>G (p.Lys399Glu)
c.1957A>G (p.Lys653Glu)
c.451A>G (p.Lys151Glu)
 ClinVar dbSNP gnomAD v4
16g.2070534A>TCA394272936TSC2c.*342A>T (n.*342A>T)
c.1840A>T (p.Lys614Ter)
c.1795A>T (p.Lys599Ter)
c.*1232A>T (n.*1232A>T)
c.*1400A>T (n.*1400A>T)
c.1828A>T (p.Lys610Ter)
c.452A>T
c.*1297A>T (n.*1297A>T)
c.*295A>T (n.*295A>T)
c.1788A>T
n.787A>T
n.75A>T
n.808A>T
c.1648A>T (p.Lys550Ter)
c.*1094A>T (n.*1094A>T)
c.1684A>T (p.Lys562Ter)
n.302A>T
n.520A>T
c.435A>T (n.435A>T)
c.1195A>T (p.Lys399Ter)
c.1957A>T (p.Lys653Ter)
c.451A>T (p.Lys151Ter)
16g.2070535delCA015825TSC2c.*343del (n.*343del)
c.1841del (p.Lys614SerfsTer?)
c.1796del (p.Lys599SerfsTer?)
c.*1233del (n.*1233del)
c.*1401del (n.*1401del)
c.1829del (p.Lys610SerfsTer?)
c.453del
c.*1298del (n.*1298del)
c.*296del (n.*296del)
c.1789del
n.788del
n.76del
n.809del
c.1649del (p.Lys550SerfsTer?)
c.*1095del (n.*1095del)
c.1685del (p.Lys562SerfsTer?)
n.303del
n.521del
c.436del (n.436del)
c.1196del (p.Lys399SerfsTer?)
c.1958del (p.Lys653SerfsTer?)
c.452del (p.Lys151SerfsTer?)
 ClinVar dbSNP
16g.2070535A=CA2202017997TSC2c.*343A= (n.*343A=)
c.1841A= (p.Lys614=)
c.1796A= (p.Lys599=)
c.*1233A= (n.*1233A=)
c.*1401A= (n.*1401A=)
c.1829A= (p.Lys610=)
c.453A=
c.*1298A= (n.*1298A=)
c.*296A= (n.*296A=)
c.1789A=
n.788A=
n.76A=
n.809A=
c.1649A= (p.Lys550=)
c.*1095A= (n.*1095A=)
c.1685A= (p.Lys562=)
n.303A=
n.521A=
c.436A= (n.436A=)
c.1196A= (p.Lys399=)
c.1958A= (p.Lys653=)
c.452A= (p.Lys151=)
16g.2070535A>CCA394272937TSC2c.*343A>C (n.*343A>C)
c.1841A>C (p.Lys614Thr)
c.1796A>C (p.Lys599Thr)
c.*1233A>C (n.*1233A>C)
c.*1401A>C (n.*1401A>C)
c.1829A>C (p.Lys610Thr)
c.453A>C
c.*1298A>C (n.*1298A>C)
c.*296A>C (n.*296A>C)
c.1789A>C
n.788A>C
n.76A>C
n.809A>C
c.1649A>C (p.Lys550Thr)
c.*1095A>C (n.*1095A>C)
c.1685A>C (p.Lys562Thr)
n.303A>C
n.521A>C
c.436A>C (n.436A>C)
c.1196A>C (p.Lys399Thr)
c.1958A>C (p.Lys653Thr)
c.452A>C (p.Lys151Thr)
16g.2070535A>GCA033543TSC2c.*343A>G (n.*343A>G)
c.1841A>G (p.Lys614Arg)
c.1796A>G (p.Lys599Arg)
c.*1233A>G (n.*1233A>G)
c.*1401A>G (n.*1401A>G)
c.1829A>G (p.Lys610Arg)
c.453A>G
c.*1298A>G (n.*1298A>G)
c.*296A>G (n.*296A>G)
c.1789A>G
n.788A>G
n.76A>G
n.809A>G
c.1649A>G (p.Lys550Arg)
c.*1095A>G (n.*1095A>G)
c.1685A>G (p.Lys562Arg)
n.303A>G
n.521A>G
c.436A>G (n.436A>G)
c.1196A>G (p.Lys399Arg)
c.1958A>G (p.Lys653Arg)
c.452A>G (p.Lys151Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070535A>TCA015834TSC2c.*343A>T (n.*343A>T)
c.1841A>T (p.Lys614Met)
c.1796A>T (p.Lys599Met)
c.*1233A>T (n.*1233A>T)
c.*1401A>T (n.*1401A>T)
c.1829A>T (p.Lys610Met)
c.453A>T
c.*1298A>T (n.*1298A>T)
c.*296A>T (n.*296A>T)
c.1789A>T
n.788A>T
n.76A>T
n.809A>T
c.1649A>T (p.Lys550Met)
c.*1095A>T (n.*1095A>T)
c.1685A>T (p.Lys562Met)
n.303A>T
n.521A>T
c.436A>T (n.436A>T)
c.1196A>T (p.Lys399Met)
c.1958A>T (p.Lys653Met)
c.452A>T (p.Lys151Met)
 ClinVar dbSNP
16g.2070536G>ACA492949818TSC2c.*344G>A (n.*344G>A)
c.1842G>A (p.Lys614=)
c.1797G>A (p.Lys599=)
c.*1234G>A (n.*1234G>A)
c.*1402G>A (n.*1402G>A)
c.1830G>A (p.Lys610=)
c.454G>A
c.*1299G>A (n.*1299G>A)
c.*297G>A (n.*297G>A)
c.1790G>A
n.789G>A
n.77G>A
n.810G>A
c.1650G>A (p.Lys550=)
c.*1096G>A (n.*1096G>A)
c.1686G>A (p.Lys562=)
n.304G>A
n.522G>A
c.437G>A (n.437G>A)
c.1197G>A (p.Lys399=)
c.1959G>A (p.Lys653=)
c.453G>A (p.Lys151=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2070536G>CCA394272938TSC2c.*344G>C (n.*344G>C)
c.1842G>C (p.Lys614Asn)
c.1797G>C (p.Lys599Asn)
c.*1234G>C (n.*1234G>C)
c.*1402G>C (n.*1402G>C)
c.1830G>C (p.Lys610Asn)
c.454G>C
c.*1299G>C (n.*1299G>C)
c.*297G>C (n.*297G>C)
c.1790G>C
n.789G>C
n.77G>C
n.810G>C
c.1650G>C (p.Lys550Asn)
c.*1096G>C (n.*1096G>C)
c.1686G>C (p.Lys562Asn)
n.304G>C
n.522G>C
c.437G>C (n.437G>C)
c.1197G>C (p.Lys399Asn)
c.1959G>C (p.Lys653Asn)
c.453G>C (p.Lys151Asn)
 dbSNP
16g.2070536G=CA2202017998TSC2c.*344G= (n.*344G=)
c.1842G= (p.Lys614=)
c.1797G= (p.Lys599=)
c.*1234G= (n.*1234G=)
c.*1402G= (n.*1402G=)
c.1830G= (p.Lys610=)
c.454G=
c.*1299G= (n.*1299G=)
c.*297G= (n.*297G=)
c.1790G=
n.789G=
n.77G=
n.810G=
c.1650G= (p.Lys550=)
c.*1096G= (n.*1096G=)
c.1686G= (p.Lys562=)
n.304G=
n.522G=
c.437G= (n.437G=)
c.1197G= (p.Lys399=)
c.1959G= (p.Lys653=)
c.453G= (p.Lys151=)
16g.2070536G>TCA394272939TSC2c.*344G>T (n.*344G>T)
c.1842G>T (p.Lys614Asn)
c.1797G>T (p.Lys599Asn)
c.*1234G>T (n.*1234G>T)
c.*1402G>T (n.*1402G>T)
c.1830G>T (p.Lys610Asn)
c.454G>T
c.*1299G>T (n.*1299G>T)
c.*297G>T (n.*297G>T)
c.1790G>T
n.789G>T
n.77G>T
n.810G>T
c.1650G>T (p.Lys550Asn)
c.*1096G>T (n.*1096G>T)
c.1686G>T (p.Lys562Asn)
n.304G>T
n.522G>T
c.437G>T (n.437G>T)
c.1197G>T (p.Lys399Asn)
c.1959G>T (p.Lys653Asn)
c.453G>T (p.Lys151Asn)
 dbSNP
16g.2070537C>ACA394272940TSC2c.*345C>A (n.*345C>A)
c.1843C>A (p.His615Asn)
c.1798C>A (p.His600Asn)
c.*1235C>A (n.*1235C>A)
c.*1403C>A (n.*1403C>A)
c.1831C>A (p.His611Asn)
c.455C>A
c.*1300C>A (n.*1300C>A)
c.*298C>A (n.*298C>A)
c.1791C>A
n.790C>A
n.78C>A
n.811C>A
c.1651C>A (p.His551Asn)
c.*1097C>A (n.*1097C>A)
c.1687C>A (p.His563Asn)
n.305C>A
n.523C>A
c.438C>A (n.438C>A)
c.1198C>A (p.His400Asn)
c.1960C>A (p.His654Asn)
c.454C>A (p.His152Asn)
16g.2070537C=CA2202017999TSC2c.*345C= (n.*345C=)
c.1843C= (p.His615=)
c.1798C= (p.His600=)
c.*1235C= (n.*1235C=)
c.*1403C= (n.*1403C=)
c.1831C= (p.His611=)
c.455C=
c.*1300C= (n.*1300C=)
c.*298C= (n.*298C=)
c.1791C=
n.790C=
n.78C=
n.811C=
c.1651C= (p.His551=)
c.*1097C= (n.*1097C=)
c.1687C= (p.His563=)
n.305C=
n.523C=
c.438C= (n.438C=)
c.1198C= (p.His400=)
c.1960C= (p.His654=)
c.454C= (p.His152=)
16g.2070537C>GCA394272941TSC2c.*345C>G (n.*345C>G)
c.1843C>G (p.His615Asp)
c.1798C>G (p.His600Asp)
c.*1235C>G (n.*1235C>G)
c.*1403C>G (n.*1403C>G)
c.1831C>G (p.His611Asp)
c.455C>G
c.*1300C>G (n.*1300C>G)
c.*298C>G (n.*298C>G)
c.1791C>G
n.790C>G
n.78C>G
n.811C>G
c.1651C>G (p.His551Asp)
c.*1097C>G (n.*1097C>G)
c.1687C>G (p.His563Asp)
n.305C>G
n.523C>G
c.438C>G (n.438C>G)
c.1198C>G (p.His400Asp)
c.1960C>G (p.His654Asp)
c.454C>G (p.His152Asp)
 ClinVar dbSNP
16g.2070537C>TCA033559TSC2c.*345C>T (n.*345C>T)
c.1843C>T (p.His615Tyr)
c.1798C>T (p.His600Tyr)
c.*1235C>T (n.*1235C>T)
c.*1403C>T (n.*1403C>T)
c.1831C>T (p.His611Tyr)
c.455C>T
c.*1300C>T (n.*1300C>T)
c.*298C>T (n.*298C>T)
c.1791C>T
n.790C>T
n.78C>T
n.811C>T
c.1651C>T (p.His551Tyr)
c.*1097C>T (n.*1097C>T)
c.1687C>T (p.His563Tyr)
n.305C>T
n.523C>T
c.438C>T (n.438C>T)
c.1198C>T (p.His400Tyr)
c.1960C>T (p.His654Tyr)
c.454C>T (p.His152Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2070538A=CA2202018002TSC2c.*346A= (n.*346A=)
c.1844A= (p.His615=)
c.1799A= (p.His600=)
c.*1236A= (n.*1236A=)
c.*1404A= (n.*1404A=)
c.1832A= (p.His611=)
c.456A=
c.*1301A= (n.*1301A=)
c.*299A= (n.*299A=)
c.1792A=
n.791A=
n.79A=
n.812A=
c.1652A= (p.His551=)
c.*1098A= (n.*1098A=)
c.1688A= (p.His563=)
n.306A=
n.524A=
c.439A= (n.439A=)
c.1199A= (p.His400=)
c.1961A= (p.His654=)
c.455A= (p.His152=)
16g.2070538A>CCA394272942TSC2c.*346A>C (n.*346A>C)
c.1844A>C (p.His615Pro)
c.1799A>C (p.His600Pro)
c.*1236A>C (n.*1236A>C)
c.*1404A>C (n.*1404A>C)
c.1832A>C (p.His611Pro)
c.456A>C
c.*1301A>C (n.*1301A>C)
c.*299A>C (n.*299A>C)
c.1792A>C
n.791A>C
n.79A>C
n.812A>C
c.1652A>C (p.His551Pro)
c.*1098A>C (n.*1098A>C)
c.1688A>C (p.His563Pro)
n.306A>C
n.524A>C
c.439A>C (n.439A>C)
c.1199A>C (p.His400Pro)
c.1961A>C (p.His654Pro)
c.455A>C (p.His152Pro)
 dbSNP
16g.2070538A>GCA394272944TSC2c.*346A>G (n.*346A>G)
c.1844A>G (p.His615Arg)
c.1799A>G (p.His600Arg)
c.*1236A>G (n.*1236A>G)
c.*1404A>G (n.*1404A>G)
c.1832A>G (p.His611Arg)
c.456A>G
c.*1301A>G (n.*1301A>G)
c.*299A>G (n.*299A>G)
c.1792A>G
n.791A>G
n.79A>G
n.812A>G
c.1652A>G (p.His551Arg)
c.*1098A>G (n.*1098A>G)
c.1688A>G (p.His563Arg)
n.306A>G
n.524A>G
c.439A>G (n.439A>G)
c.1199A>G (p.His400Arg)
c.1961A>G (p.His654Arg)
c.455A>G (p.His152Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2070538A>TCA394272943TSC2c.*346A>T (n.*346A>T)
c.1844A>T (p.His615Leu)
c.1799A>T (p.His600Leu)
c.*1236A>T (n.*1236A>T)
c.*1404A>T (n.*1404A>T)
c.1832A>T (p.His611Leu)
c.456A>T
c.*1301A>T (n.*1301A>T)
c.*299A>T (n.*299A>T)
c.1792A>T
n.791A>T
n.79A>T
n.812A>T
c.1652A>T (p.His551Leu)
c.*1098A>T (n.*1098A>T)
c.1688A>T (p.His563Leu)
n.306A>T
n.524A>T
c.439A>T (n.439A>T)
c.1199A>T (p.His400Leu)
c.1961A>T (p.His654Leu)
c.455A>T (p.His152Leu)
 dbSNP gnomAD v4
16g.2070539C>ACA394272945TSC2c.*347C>A (n.*347C>A)
c.1845C>A (p.His615Gln)
c.1800C>A (p.His600Gln)
c.*1237C>A (n.*1237C>A)
c.*1405C>A (n.*1405C>A)
c.1833C>A (p.His611Gln)
c.457C>A
c.*1302C>A (n.*1302C>A)
c.*300C>A (n.*300C>A)
c.1793C>A
n.792C>A
n.80C>A
n.813C>A
c.1653C>A (p.His551Gln)
c.*1099C>A (n.*1099C>A)
c.1689C>A (p.His563Gln)
n.307C>A
n.525C>A
c.440C>A (n.440C>A)
c.1200C>A (p.His400Gln)
c.1962C>A (p.His654Gln)
c.456C>A (p.His152Gln)
 ClinVar dbSNP
16g.2070539C=CA2202018012TSC2c.*347C= (n.*347C=)
c.1845C= (p.His615=)
c.1800C= (p.His600=)
c.*1237C= (n.*1237C=)
c.*1405C= (n.*1405C=)
c.1833C= (p.His611=)
c.457C=
c.*1302C= (n.*1302C=)
c.*300C= (n.*300C=)
c.1793C=
n.792C=
n.80C=
n.813C=
c.1653C= (p.His551=)
c.*1099C= (n.*1099C=)
c.1689C= (p.His563=)
n.307C=
n.525C=
c.440C= (n.440C=)
c.1200C= (p.His400=)
c.1962C= (p.His654=)
c.456C= (p.His152=)
16g.2070539C>GCA394272946TSC2c.*347C>G (n.*347C>G)
c.1845C>G (p.His615Gln)
c.1800C>G (p.His600Gln)
c.*1237C>G (n.*1237C>G)
c.*1405C>G (n.*1405C>G)
c.1833C>G (p.His611Gln)
c.457C>G
c.*1302C>G (n.*1302C>G)
c.*300C>G (n.*300C>G)
c.1793C>G
n.792C>G
n.80C>G
n.813C>G
c.1653C>G (p.His551Gln)
c.*1099C>G (n.*1099C>G)
c.1689C>G (p.His563Gln)
n.307C>G
n.525C>G
c.440C>G (n.440C>G)
c.1200C>G (p.His400Gln)
c.1962C>G (p.His654Gln)
c.456C>G (p.His152Gln)
16g.2070539C>TCA033593TSC2c.*347C>T (n.*347C>T)
c.1845C>T (p.His615=)
c.1800C>T (p.His600=)
c.*1237C>T (n.*1237C>T)
c.*1405C>T (n.*1405C>T)
c.1833C>T (p.His611=)
c.457C>T
c.*1302C>T (n.*1302C>T)
c.*300C>T (n.*300C>T)
c.1793C>T
n.792C>T
n.80C>T
n.813C>T
c.1653C>T (p.His551=)
c.*1099C>T (n.*1099C>T)
c.1689C>T (p.His563=)
n.307C>T
n.525C>T
c.440C>T (n.440C>T)
c.1200C>T (p.His400=)
c.1962C>T (p.His654=)
c.456C>T (p.His152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2070540A>CCA394272947TSC2c.*348A>C (n.*348A>C)
c.1846A>C (p.Ser616Arg)
c.1801A>C (p.Ser601Arg)
c.*1238A>C (n.*1238A>C)
c.*1406A>C (n.*1406A>C)
c.1834A>C (p.Ser612Arg)
c.458A>C
c.*1303A>C (n.*1303A>C)
c.*301A>C (n.*301A>C)
c.1794A>C
n.793A>C
n.81A>C
n.814A>C
c.1654A>C (p.Ser552Arg)
c.*1100A>C (n.*1100A>C)
c.1690A>C (p.Ser564Arg)
n.308A>C
n.526A>C
c.441A>C (n.441A>C)
c.1201A>C (p.Ser401Arg)
c.1963A>C (p.Ser655Arg)
c.457A>C (p.Ser153Arg)
 gnomAD v4
16g.2070540A>GCA394272948TSC2c.*348A>G (n.*348A>G)
c.1846A>G (p.Ser616Gly)
c.1801A>G (p.Ser601Gly)
c.*1238A>G (n.*1238A>G)
c.*1406A>G (n.*1406A>G)
c.1834A>G (p.Ser612Gly)
c.458A>G
c.*1303A>G (n.*1303A>G)
c.*301A>G (n.*301A>G)
c.1794A>G
n.793A>G
n.81A>G
n.814A>G
c.1654A>G (p.Ser552Gly)
c.*1100A>G (n.*1100A>G)
c.1690A>G (p.Ser564Gly)
n.308A>G
n.526A>G
c.441A>G (n.441A>G)
c.1201A>G (p.Ser401Gly)
c.1963A>G (p.Ser655Gly)
c.457A>G (p.Ser153Gly)
 ClinVar dbSNP gnomAD v4
16g.2070540A>TCA394272949TSC2c.*348A>T (n.*348A>T)
c.1846A>T (p.Ser616Cys)
c.1801A>T (p.Ser601Cys)
c.*1238A>T (n.*1238A>T)
c.*1406A>T (n.*1406A>T)
c.1834A>T (p.Ser612Cys)
c.458A>T
c.*1303A>T (n.*1303A>T)
c.*301A>T (n.*301A>T)
c.1794A>T
n.793A>T
n.81A>T
n.814A>T
c.1654A>T (p.Ser552Cys)
c.*1100A>T (n.*1100A>T)
c.1690A>T (p.Ser564Cys)
n.308A>T
n.526A>T
c.441A>T (n.441A>T)
c.1201A>T (p.Ser401Cys)
c.1963A>T (p.Ser655Cys)
c.457A>T (p.Ser153Cys)
 dbSNP
16g.2070541G>ACA394272950TSC2c.*349G>A (n.*349G>A)
c.1847G>A (p.Ser616Asn)
c.1802G>A (p.Ser601Asn)
c.*1239G>A (n.*1239G>A)
c.*1407G>A (n.*1407G>A)
c.1835G>A (p.Ser612Asn)
c.459G>A
c.*1304G>A (n.*1304G>A)
c.*302G>A (n.*302G>A)
c.1795G>A
n.794G>A
n.82G>A
n.815G>A
c.1655G>A (p.Ser552Asn)
c.*1101G>A (n.*1101G>A)
c.1691G>A (p.Ser564Asn)
n.309G>A
n.527G>A
c.442G>A (n.442G>A)
c.1202G>A (p.Ser401Asn)
c.1964G>A (p.Ser655Asn)
c.458G>A (p.Ser153Asn)
 ClinVar dbSNP gnomAD v4
16g.2070541G>CCA394272951TSC2c.*349G>C (n.*349G>C)
c.1847G>C (p.Ser616Thr)
c.1802G>C (p.Ser601Thr)
c.*1239G>C (n.*1239G>C)
c.*1407G>C (n.*1407G>C)
c.1835G>C (p.Ser612Thr)
c.459G>C
c.*1304G>C (n.*1304G>C)
c.*302G>C (n.*302G>C)
c.1795G>C
n.794G>C
n.82G>C
n.815G>C
c.1655G>C (p.Ser552Thr)
c.*1101G>C (n.*1101G>C)
c.1691G>C (p.Ser564Thr)
n.309G>C
n.527G>C
c.442G>C (n.442G>C)
c.1202G>C (p.Ser401Thr)
c.1964G>C (p.Ser655Thr)
c.458G>C (p.Ser153Thr)
 ClinVar dbSNP
16g.2070541G>TCA394272952TSC2c.*349G>T (n.*349G>T)
c.1847G>T (p.Ser616Ile)
c.1802G>T (p.Ser601Ile)
c.*1239G>T (n.*1239G>T)
c.*1407G>T (n.*1407G>T)
c.1835G>T (p.Ser612Ile)
c.459G>T
c.*1304G>T (n.*1304G>T)
c.*302G>T (n.*302G>T)
c.1795G>T
n.794G>T
n.82G>T
n.815G>T
c.1655G>T (p.Ser552Ile)
c.*1101G>T (n.*1101G>T)
c.1691G>T (p.Ser564Ile)
n.309G>T
n.527G>T
c.442G>T (n.442G>T)
c.1202G>T (p.Ser401Ile)
c.1964G>T (p.Ser655Ile)
c.458G>T (p.Ser153Ile)
 gnomAD v4
16g.2070542C>ACA394272953TSC2c.*350C>A (n.*350C>A)
c.1848C>A (p.Ser616Arg)
c.1803C>A (p.Ser601Arg)
c.*1240C>A (n.*1240C>A)
c.*1408C>A (n.*1408C>A)
c.1836C>A (p.Ser612Arg)
c.460C>A
c.*1305C>A (n.*1305C>A)
c.*303C>A (n.*303C>A)
c.1796C>A
n.795C>A
n.83C>A
n.816C>A
c.1656C>A (p.Ser552Arg)
c.*1102C>A (n.*1102C>A)
c.1692C>A (p.Ser564Arg)
n.310C>A
n.528C>A
c.443C>A (n.443C>A)
c.1203C>A (p.Ser401Arg)
c.1965C>A (p.Ser655Arg)
c.459C>A (p.Ser153Arg)
 ClinVar dbSNP
16g.2070542C=CA2202018013TSC2c.*350C= (n.*350C=)
c.1848C= (p.Ser616=)
c.1803C= (p.Ser601=)
c.*1240C= (n.*1240C=)
c.*1408C= (n.*1408C=)
c.1836C= (p.Ser612=)
c.460C=
c.*1305C= (n.*1305C=)
c.*303C= (n.*303C=)
c.1796C=
n.795C=
n.83C=
n.816C=
c.1656C= (p.Ser552=)
c.*1102C= (n.*1102C=)
c.1692C= (p.Ser564=)
n.310C=
n.528C=
c.443C= (n.443C=)
c.1203C= (p.Ser401=)
c.1965C= (p.Ser655=)
c.459C= (p.Ser153=)
16g.2070542C>GCA394272954TSC2c.*350C>G (n.*350C>G)
c.1848C>G (p.Ser616Arg)
c.1803C>G (p.Ser601Arg)
c.*1240C>G (n.*1240C>G)
c.*1408C>G (n.*1408C>G)
c.1836C>G (p.Ser612Arg)
c.460C>G
c.*1305C>G (n.*1305C>G)
c.*303C>G (n.*303C>G)
c.1796C>G
n.795C>G
n.83C>G
n.816C>G
c.1656C>G (p.Ser552Arg)
c.*1102C>G (n.*1102C>G)
c.1692C>G (p.Ser564Arg)
n.310C>G
n.528C>G
c.443C>G (n.443C>G)
c.1203C>G (p.Ser401Arg)
c.1965C>G (p.Ser655Arg)
c.459C>G (p.Ser153Arg)
 ClinVar dbSNP
16g.2070542C>TCA276735819TSC2c.*350C>T (n.*350C>T)
c.1848C>T (p.Ser616=)
c.1803C>T (p.Ser601=)
c.*1240C>T (n.*1240C>T)
c.*1408C>T (n.*1408C>T)
c.1836C>T (p.Ser612=)
c.460C>T
c.*1305C>T (n.*1305C>T)
c.*303C>T (n.*303C>T)
c.1796C>T
n.795C>T
n.83C>T
n.816C>T
c.1656C>T (p.Ser552=)
c.*1102C>T (n.*1102C>T)
c.1692C>T (p.Ser564=)
n.310C>T
n.528C>T
c.443C>T (n.443C>T)
c.1203C>T (p.Ser401=)
c.1965C>T (p.Ser655=)
c.459C>T (p.Ser153=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2070543_2070547dupCA2695221332TSC2c.*351_*355dup (n.*351_*355dup)
c.1849_1853dup (p.Leu619ThrfsTer?)
c.1804_1808dup (p.Leu604ThrfsTer?)
c.*1241_*1245dup (n.*1241_*1245dup)
c.*1409_*1413dup (n.*1409_*1413dup)
c.1837_1841dup (p.Leu615ThrfsTer?)
c.461_465dup
c.*1306_*1310dup (n.*1306_*1310dup)
c.*304_*308dup (n.*304_*308dup)
c.1797_1801dup
n.796_800dup
n.84_88dup
n.817_821dup
c.1657_1661dup (p.Leu555ThrfsTer?)
c.*1103_*1107dup (n.*1103_*1107dup)
c.1693_1697dup (p.Leu567ThrfsTer?)
n.311_315dup
n.529_533dup
c.444_448dup (n.444_448dup)
c.1204_1208dup (p.Leu404ThrfsTer?)
c.1966_1970dup (p.Leu658ThrfsTer?)
c.460_464dup (p.Leu156ThrfsTer?)
16g.2070543T>ACA394272957TSC2c.*351T>A (n.*351T>A)
c.1849T>A (p.Tyr617Asn)
c.1804T>A (p.Tyr602Asn)
c.*1241T>A (n.*1241T>A)
c.*1409T>A (n.*1409T>A)
c.1837T>A (p.Tyr613Asn)
c.461T>A
c.*1306T>A (n.*1306T>A)
c.*304T>A (n.*304T>A)
c.1797T>A
n.796T>A
n.84T>A
n.817T>A
c.1657T>A (p.Tyr553Asn)
c.*1103T>A (n.*1103T>A)
c.1693T>A (p.Tyr565Asn)
n.311T>A
n.529T>A
c.444T>A (n.444T>A)
c.1204T>A (p.Tyr402Asn)
c.1966T>A (p.Tyr656Asn)
c.460T>A (p.Tyr154Asn)
16g.2070543T>CCA394272955TSC2c.*351T>C (n.*351T>C)
c.1849T>C (p.Tyr617His)
c.1804T>C (p.Tyr602His)
c.*1241T>C (n.*1241T>C)
c.*1409T>C (n.*1409T>C)
c.1837T>C (p.Tyr613His)
c.461T>C
c.*1306T>C (n.*1306T>C)
c.*304T>C (n.*304T>C)
c.1797T>C
n.796T>C
n.84T>C
n.817T>C
c.1657T>C (p.Tyr553His)
c.*1103T>C (n.*1103T>C)
c.1693T>C (p.Tyr565His)
n.311T>C
n.529T>C
c.444T>C (n.444T>C)
c.1204T>C (p.Tyr402His)
c.1966T>C (p.Tyr656His)
c.460T>C (p.Tyr154His)
 ClinVar gnomAD v4
16g.2070543T>GCA394272956TSC2c.*351T>G (n.*351T>G)
c.1849T>G (p.Tyr617Asp)
c.1804T>G (p.Tyr602Asp)
c.*1241T>G (n.*1241T>G)
c.*1409T>G (n.*1409T>G)
c.1837T>G (p.Tyr613Asp)
c.461T>G
c.*1306T>G (n.*1306T>G)
c.*304T>G (n.*304T>G)
c.1797T>G
n.796T>G
n.84T>G
n.817T>G
c.1657T>G (p.Tyr553Asp)
c.*1103T>G (n.*1103T>G)
c.1693T>G (p.Tyr565Asp)
n.311T>G
n.529T>G
c.444T>G (n.444T>G)
c.1204T>G (p.Tyr402Asp)
c.1966T>G (p.Tyr656Asp)
c.460T>G (p.Tyr154Asp)
16g.2070543dupCA015844TSC2c.*351dup (n.*351dup)
c.1849dup (p.Tyr617LeufsTer15)
c.1804dup (p.Tyr602LeufsTer15)
c.*1241dup (n.*1241dup)
c.*1409dup (n.*1409dup)
c.1837dup (p.Tyr613LeufsTer15)
c.461dup
c.*1306dup (n.*1306dup)
c.*304dup (n.*304dup)
c.1797dup
n.796dup
n.84dup
n.817dup
c.1657dup (p.Tyr553LeufsTer15)
c.*1103dup (n.*1103dup)
c.1693dup (p.Tyr565LeufsTer15)
n.311dup
n.529dup
c.444dup (n.444dup)
c.1204dup (p.Tyr402LeufsTer15)
c.1966dup (p.Tyr656LeufsTer15)
c.460dup (p.Tyr154LeufsTer15)
 ClinVar dbSNP
16g.2070544A=CA2202018022TSC2c.*352A= (n.*352A=)
c.1850A= (p.Tyr617=)
c.1805A= (p.Tyr602=)
c.*1242A= (n.*1242A=)
c.*1410A= (n.*1410A=)
c.1838A= (p.Tyr613=)
c.462A=
c.*1307A= (n.*1307A=)
c.*305A= (n.*305A=)
c.1798A=
n.797A=
n.85A=
n.818A=
c.1658A= (p.Tyr553=)
c.*1104A= (n.*1104A=)
c.1694A= (p.Tyr565=)
n.312A=
n.530A=
c.445A= (n.445A=)
c.1205A= (p.Tyr402=)
c.1967A= (p.Tyr656=)
c.461A= (p.Tyr154=)
16g.2070544A>CCA394272958TSC2c.*352A>C (n.*352A>C)
c.1850A>C (p.Tyr617Ser)
c.1805A>C (p.Tyr602Ser)
c.*1242A>C (n.*1242A>C)
c.*1410A>C (n.*1410A>C)
c.1838A>C (p.Tyr613Ser)
c.462A>C
c.*1307A>C (n.*1307A>C)
c.*305A>C (n.*305A>C)
c.1798A>C
n.797A>C
n.85A>C
n.818A>C
c.1658A>C (p.Tyr553Ser)
c.*1104A>C (n.*1104A>C)
c.1694A>C (p.Tyr565Ser)
n.312A>C
n.530A>C
c.445A>C (n.445A>C)
c.1205A>C (p.Tyr402Ser)
c.1967A>C (p.Tyr656Ser)
c.461A>C (p.Tyr154Ser)
 ClinVar dbSNP
16g.2070544A>GCA394272960TSC2c.*352A>G (n.*352A>G)
c.1850A>G (p.Tyr617Cys)
c.1805A>G (p.Tyr602Cys)
c.*1242A>G (n.*1242A>G)
c.*1410A>G (n.*1410A>G)
c.1838A>G (p.Tyr613Cys)
c.462A>G
c.*1307A>G (n.*1307A>G)
c.*305A>G (n.*305A>G)
c.1798A>G
n.797A>G
n.85A>G
n.818A>G
c.1658A>G (p.Tyr553Cys)
c.*1104A>G (n.*1104A>G)
c.1694A>G (p.Tyr565Cys)
n.312A>G
n.530A>G
c.445A>G (n.445A>G)
c.1205A>G (p.Tyr402Cys)
c.1967A>G (p.Tyr656Cys)
c.461A>G (p.Tyr154Cys)
 ClinVar dbSNP
16g.2070544A>TCA394272959TSC2c.*352A>T (n.*352A>T)
c.1850A>T (p.Tyr617Phe)
c.1805A>T (p.Tyr602Phe)
c.*1242A>T (n.*1242A>T)
c.*1410A>T (n.*1410A>T)
c.1838A>T (p.Tyr613Phe)
c.462A>T
c.*1307A>T (n.*1307A>T)
c.*305A>T (n.*305A>T)
c.1798A>T
n.797A>T
n.85A>T
n.818A>T
c.1658A>T (p.Tyr553Phe)
c.*1104A>T (n.*1104A>T)
c.1694A>T (p.Tyr565Phe)
n.312A>T
n.530A>T
c.445A>T (n.445A>T)
c.1205A>T (p.Tyr402Phe)
c.1967A>T (p.Tyr656Phe)
c.461A>T (p.Tyr154Phe)
 dbSNP
16g.2070545C>ACA394272961TSC2c.*353C>A (n.*353C>A)
c.1851C>A (p.Tyr617Ter)
c.1806C>A (p.Tyr602Ter)
c.*1243C>A (n.*1243C>A)
c.*1411C>A (n.*1411C>A)
c.1839C>A (p.Tyr613Ter)
c.463C>A
c.*1308C>A (n.*1308C>A)
c.*306C>A (n.*306C>A)
c.1799C>A
n.798C>A
n.86C>A
n.819C>A
c.1659C>A (p.Tyr553Ter)
c.*1105C>A (n.*1105C>A)
c.1695C>A (p.Tyr565Ter)
n.313C>A
n.531C>A
c.446C>A (n.446C>A)
c.1206C>A (p.Tyr402Ter)
c.1968C>A (p.Tyr656Ter)
c.462C>A (p.Tyr154Ter)
16g.2070545C=CA2202018028TSC2c.*353C= (n.*353C=)
c.1851C= (p.Tyr617=)
c.1806C= (p.Tyr602=)
c.*1243C= (n.*1243C=)
c.*1411C= (n.*1411C=)
c.1839C= (p.Tyr613=)
c.463C=
c.*1308C= (n.*1308C=)
c.*306C= (n.*306C=)
c.1799C=
n.798C=
n.86C=
n.819C=
c.1659C= (p.Tyr553=)
c.*1105C= (n.*1105C=)
c.1695C= (p.Tyr565=)
n.313C=
n.531C=
c.446C= (n.446C=)
c.1206C= (p.Tyr402=)
c.1968C= (p.Tyr656=)
c.462C= (p.Tyr154=)
16g.2070545C>GCA16620089TSC2c.*353C>G (n.*353C>G)
c.1851C>G (p.Tyr617Ter)
c.1806C>G (p.Tyr602Ter)
c.*1243C>G (n.*1243C>G)
c.*1411C>G (n.*1411C>G)
c.1839C>G (p.Tyr613Ter)
c.463C>G
c.*1308C>G (n.*1308C>G)
c.*306C>G (n.*306C>G)
c.1799C>G
n.798C>G
n.86C>G
n.819C>G
c.1659C>G (p.Tyr553Ter)
c.*1105C>G (n.*1105C>G)
c.1695C>G (p.Tyr565Ter)
n.313C>G
n.531C>G
c.446C>G (n.446C>G)
c.1206C>G (p.Tyr402Ter)
c.1968C>G (p.Tyr656Ter)
c.462C>G (p.Tyr154Ter)
 ClinVar dbSNP
16g.2070545C>TCA033607TSC2c.*353C>T (n.*353C>T)
c.1851C>T (p.Tyr617=)
c.1806C>T (p.Tyr602=)
c.*1243C>T (n.*1243C>T)
c.*1411C>T (n.*1411C>T)
c.1839C>T (p.Tyr613=)
c.463C>T
c.*1308C>T (n.*1308C>T)
c.*306C>T (n.*306C>T)
c.1799C>T
n.798C>T
n.86C>T
n.819C>T
c.1659C>T (p.Tyr553=)
c.*1105C>T (n.*1105C>T)
c.1695C>T (p.Tyr565=)
n.313C>T
n.531C>T
c.446C>T (n.446C>T)
c.1206C>T (p.Tyr402=)
c.1968C>T (p.Tyr656=)
c.462C>T (p.Tyr154=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070546A=CA2202018041TSC2c.*354A= (n.*354A=)
c.1852A= (p.Thr618=)
c.1807A= (p.Thr603=)
c.*1244A= (n.*1244A=)
c.*1412A= (n.*1412A=)
c.1840A= (p.Thr614=)
c.464A=
c.*1309A= (n.*1309A=)
c.*307A= (n.*307A=)
c.1800A=
n.799A=
n.87A=
n.820A=
c.1660A= (p.Thr554=)
c.*1106A= (n.*1106A=)
c.1696A= (p.Thr566=)
n.314A=
n.532A=
c.447A= (n.447A=)
c.1207A= (p.Thr403=)
c.1969A= (p.Thr657=)
c.463A= (p.Thr155=)
16g.2070546A>CCA394272962TSC2c.*354A>C (n.*354A>C)
c.1852A>C (p.Thr618Pro)
c.1807A>C (p.Thr603Pro)
c.*1244A>C (n.*1244A>C)
c.*1412A>C (n.*1412A>C)
c.1840A>C (p.Thr614Pro)
c.464A>C
c.*1309A>C (n.*1309A>C)
c.*307A>C (n.*307A>C)
c.1800A>C
n.799A>C
n.87A>C
n.820A>C
c.1660A>C (p.Thr554Pro)
c.*1106A>C (n.*1106A>C)
c.1696A>C (p.Thr566Pro)
n.314A>C
n.532A>C
c.447A>C (n.447A>C)
c.1207A>C (p.Thr403Pro)
c.1969A>C (p.Thr657Pro)
c.463A>C (p.Thr155Pro)
 dbSNP gnomAD v4
16g.2070546A>GCA394272963TSC2c.*354A>G (n.*354A>G)
c.1852A>G (p.Thr618Ala)
c.1807A>G (p.Thr603Ala)
c.*1244A>G (n.*1244A>G)
c.*1412A>G (n.*1412A>G)
c.1840A>G (p.Thr614Ala)
c.464A>G
c.*1309A>G (n.*1309A>G)
c.*307A>G (n.*307A>G)
c.1800A>G
n.799A>G
n.87A>G
n.820A>G
c.1660A>G (p.Thr554Ala)
c.*1106A>G (n.*1106A>G)
c.1696A>G (p.Thr566Ala)
n.314A>G
n.532A>G
c.447A>G (n.447A>G)
c.1207A>G (p.Thr403Ala)
c.1969A>G (p.Thr657Ala)
c.463A>G (p.Thr155Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2070546A>TCA10579877TSC2c.*354A>T (n.*354A>T)
c.1852A>T (p.Thr618Ser)
c.1807A>T (p.Thr603Ser)
c.*1244A>T (n.*1244A>T)
c.*1412A>T (n.*1412A>T)
c.1840A>T (p.Thr614Ser)
c.464A>T
c.*1309A>T (n.*1309A>T)
c.*307A>T (n.*307A>T)
c.1800A>T
n.799A>T
n.87A>T
n.820A>T
c.1660A>T (p.Thr554Ser)
c.*1106A>T (n.*1106A>T)
c.1696A>T (p.Thr566Ser)
n.314A>T
n.532A>T
c.447A>T (n.447A>T)
c.1207A>T (p.Thr403Ser)
c.1969A>T (p.Thr657Ser)
c.463A>T (p.Thr155Ser)
 ClinVar dbSNP
16g.2070547C>ACA394272964TSC2c.*355C>A (n.*355C>A)
c.1853C>A (p.Thr618Asn)
c.1808C>A (p.Thr603Asn)
c.*1245C>A (n.*1245C>A)
c.*1413C>A (n.*1413C>A)
c.1841C>A (p.Thr614Asn)
c.465C>A
c.*1310C>A (n.*1310C>A)
c.*308C>A (n.*308C>A)
c.1801C>A
n.800C>A
n.88C>A
n.821C>A
c.1661C>A (p.Thr554Asn)
c.*1107C>A (n.*1107C>A)
c.1697C>A (p.Thr566Asn)
n.315C>A
n.533C>A
c.448C>A (n.448C>A)
c.1208C>A (p.Thr403Asn)
c.1970C>A (p.Thr657Asn)
c.464C>A (p.Thr155Asn)
 dbSNP gnomAD v4
16g.2070547C=CA2202018045TSC2c.*355C= (n.*355C=)
c.1853C= (p.Thr618=)
c.1808C= (p.Thr603=)
c.*1245C= (n.*1245C=)
c.*1413C= (n.*1413C=)
c.1841C= (p.Thr614=)
c.465C=
c.*1310C= (n.*1310C=)
c.*308C= (n.*308C=)
c.1801C=
n.800C=
n.88C=
n.821C=
c.1661C= (p.Thr554=)
c.*1107C= (n.*1107C=)
c.1697C= (p.Thr566=)
n.315C=
n.533C=
c.448C= (n.448C=)
c.1208C= (p.Thr403=)
c.1970C= (p.Thr657=)
c.464C= (p.Thr155=)
16g.2070547C>GCA394272965TSC2c.*355C>G (n.*355C>G)
c.1853C>G (p.Thr618Ser)
c.1808C>G (p.Thr603Ser)
c.*1245C>G (n.*1245C>G)
c.*1413C>G (n.*1413C>G)
c.1841C>G (p.Thr614Ser)
c.465C>G
c.*1310C>G (n.*1310C>G)
c.*308C>G (n.*308C>G)
c.1801C>G
n.800C>G
n.88C>G
n.821C>G
c.1661C>G (p.Thr554Ser)
c.*1107C>G (n.*1107C>G)
c.1697C>G (p.Thr566Ser)
n.315C>G
n.533C>G
c.448C>G (n.448C>G)
c.1208C>G (p.Thr403Ser)
c.1970C>G (p.Thr657Ser)
c.464C>G (p.Thr155Ser)
 ClinVar dbSNP gnomAD v4
16g.2070547C>TCA394272966TSC2c.*355C>T (n.*355C>T)
c.1853C>T (p.Thr618Ile)
c.1808C>T (p.Thr603Ile)
c.*1245C>T (n.*1245C>T)
c.*1413C>T (n.*1413C>T)
c.1841C>T (p.Thr614Ile)
c.465C>T
c.*1310C>T (n.*1310C>T)
c.*308C>T (n.*308C>T)
c.1801C>T
n.800C>T
n.88C>T
n.821C>T
c.1661C>T (p.Thr554Ile)
c.*1107C>T (n.*1107C>T)
c.1697C>T (p.Thr566Ile)
n.315C>T
n.533C>T
c.448C>T (n.448C>T)
c.1208C>T (p.Thr403Ile)
c.1970C>T (p.Thr657Ile)
c.464C>T (p.Thr155Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2070548C>ACA492949831TSC2c.*356C>A (n.*356C>A)
c.1854C>A (p.Thr618=)
c.1809C>A (p.Thr603=)
c.*1246C>A (n.*1246C>A)
c.*1414C>A (n.*1414C>A)
c.1842C>A (p.Thr614=)
c.466C>A
c.*1311C>A (n.*1311C>A)
c.*309C>A (n.*309C>A)
c.1802C>A
n.801C>A
n.89C>A
n.822C>A
c.1662C>A (p.Thr554=)
c.*1108C>A (n.*1108C>A)
c.1698C>A (p.Thr566=)
n.316C>A
n.534C>A
c.449C>A (n.449C>A)
c.1209C>A (p.Thr403=)
c.1971C>A (p.Thr657=)
c.465C>A (p.Thr155=)
16g.2070548C=CA2202018051TSC2c.*356C= (n.*356C=)
c.1854C= (p.Thr618=)
c.1809C= (p.Thr603=)
c.*1246C= (n.*1246C=)
c.*1414C= (n.*1414C=)
c.1842C= (p.Thr614=)
c.466C=
c.*1311C= (n.*1311C=)
c.*309C= (n.*309C=)
c.1802C=
n.801C=
n.89C=
n.822C=
c.1662C= (p.Thr554=)
c.*1108C= (n.*1108C=)
c.1698C= (p.Thr566=)
n.316C=
n.534C=
c.449C= (n.449C=)
c.1209C= (p.Thr403=)
c.1971C= (p.Thr657=)
c.465C= (p.Thr155=)
16g.2070548C>GCA276735837TSC2c.*356C>G (n.*356C>G)
c.1854C>G (p.Thr618=)
c.1809C>G (p.Thr603=)
c.*1246C>G (n.*1246C>G)
c.*1414C>G (n.*1414C>G)
c.1842C>G (p.Thr614=)
c.466C>G
c.*1311C>G (n.*1311C>G)
c.*309C>G (n.*309C>G)
c.1802C>G
n.801C>G
n.89C>G
n.822C>G
c.1662C>G (p.Thr554=)
c.*1108C>G (n.*1108C>G)
c.1698C>G (p.Thr566=)
n.316C>G
n.534C>G
c.449C>G (n.449C>G)
c.1209C>G (p.Thr403=)
c.1971C>G (p.Thr657=)
c.465C>G (p.Thr155=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2070548C>TCA492949832TSC2c.*356C>T (n.*356C>T)
c.1854C>T (p.Thr618=)
c.1809C>T (p.Thr603=)
c.*1246C>T (n.*1246C>T)
c.*1414C>T (n.*1414C>T)
c.1842C>T (p.Thr614=)
c.466C>T
c.*1311C>T (n.*1311C>T)
c.*309C>T (n.*309C>T)
c.1802C>T
n.801C>T
n.89C>T
n.822C>T
c.1662C>T (p.Thr554=)
c.*1108C>T (n.*1108C>T)
c.1698C>T (p.Thr566=)
n.316C>T
n.534C>T
c.449C>T (n.449C>T)
c.1209C>T (p.Thr403=)
c.1971C>T (p.Thr657=)
c.465C>T (p.Thr155=)
 ClinVar dbSNP
16g.2070549C>ACA394272967TSC2c.*357C>A (n.*357C>A)
c.1855C>A (p.Leu619Met)
c.1810C>A (p.Leu604Met)
c.*1247C>A (n.*1247C>A)
c.*1415C>A (n.*1415C>A)
c.1843C>A (p.Leu615Met)
c.467C>A
c.*1312C>A (n.*1312C>A)
c.*310C>A (n.*310C>A)
c.1803C>A
n.802C>A
n.90C>A
n.823C>A
c.1663C>A (p.Leu555Met)
c.*1109C>A (n.*1109C>A)
c.1699C>A (p.Leu567Met)
n.317C>A
n.535C>A
c.450C>A (n.450C>A)
c.1210C>A (p.Leu404Met)
c.1972C>A (p.Leu658Met)
c.466C>A (p.Leu156Met)
16g.2070549C=CA2202018060TSC2c.*357C= (n.*357C=)
c.1855C= (p.Leu619=)
c.1810C= (p.Leu604=)
c.*1247C= (n.*1247C=)
c.*1415C= (n.*1415C=)
c.1843C= (p.Leu615=)
c.467C=
c.*1312C= (n.*1312C=)
c.*310C= (n.*310C=)
c.1803C=
n.802C=
n.90C=
n.823C=
c.1663C= (p.Leu555=)
c.*1109C= (n.*1109C=)
c.1699C= (p.Leu567=)
n.317C=
n.535C=
c.450C= (n.450C=)
c.1210C= (p.Leu404=)
c.1972C= (p.Leu658=)
c.466C= (p.Leu156=)
16g.2070549C>GCA394272968TSC2c.*357C>G (n.*357C>G)
c.1855C>G (p.Leu619Val)
c.1810C>G (p.Leu604Val)
c.*1247C>G (n.*1247C>G)
c.*1415C>G (n.*1415C>G)
c.1843C>G (p.Leu615Val)
c.467C>G
c.*1312C>G (n.*1312C>G)
c.*310C>G (n.*310C>G)
c.1803C>G
n.802C>G
n.90C>G
n.823C>G
c.1663C>G (p.Leu555Val)
c.*1109C>G (n.*1109C>G)
c.1699C>G (p.Leu567Val)
n.317C>G
n.535C>G
c.450C>G (n.450C>G)
c.1210C>G (p.Leu404Val)
c.1972C>G (p.Leu658Val)
c.466C>G (p.Leu156Val)
 dbSNP
16g.2070549C>TCA033622TSC2c.*357C>T (n.*357C>T)
c.1855C>T (p.Leu619=)
c.1810C>T (p.Leu604=)
c.*1247C>T (n.*1247C>T)
c.*1415C>T (n.*1415C>T)
c.1843C>T (p.Leu615=)
c.467C>T
c.*1312C>T (n.*1312C>T)
c.*310C>T (n.*310C>T)
c.1803C>T
n.802C>T
n.90C>T
n.823C>T
c.1663C>T (p.Leu555=)
c.*1109C>T (n.*1109C>T)
c.1699C>T (p.Leu567=)
n.317C>T
n.535C>T
c.450C>T (n.450C>T)
c.1210C>T (p.Leu404=)
c.1972C>T (p.Leu658=)
c.466C>T (p.Leu156=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070550T>ACA394272971TSC2c.*358T>A (n.*358T>A)
c.1856T>A (p.Leu619Gln)
c.1811T>A (p.Leu604Gln)
c.*1248T>A (n.*1248T>A)
c.*1416T>A (n.*1416T>A)
c.1844T>A (p.Leu615Gln)
c.468T>A
c.*1313T>A (n.*1313T>A)
c.*311T>A (n.*311T>A)
c.1804T>A
n.803T>A
n.91T>A
n.824T>A
c.1664T>A (p.Leu555Gln)
c.*1110T>A (n.*1110T>A)
c.1700T>A (p.Leu567Gln)
n.318T>A
n.536T>A
c.451T>A (n.451T>A)
c.1211T>A (p.Leu404Gln)
c.1973T>A (p.Leu658Gln)
c.467T>A (p.Leu156Gln)
 dbSNP
16g.2070550T>CCA394272969TSC2c.*358T>C (n.*358T>C)
c.1856T>C (p.Leu619Pro)
c.1811T>C (p.Leu604Pro)
c.*1248T>C (n.*1248T>C)
c.*1416T>C (n.*1416T>C)
c.1844T>C (p.Leu615Pro)
c.468T>C
c.*1313T>C (n.*1313T>C)
c.*311T>C (n.*311T>C)
c.1804T>C
n.803T>C
n.91T>C
n.824T>C
c.1664T>C (p.Leu555Pro)
c.*1110T>C (n.*1110T>C)
c.1700T>C (p.Leu567Pro)
n.318T>C
n.536T>C
c.451T>C (n.451T>C)
c.1211T>C (p.Leu404Pro)
c.1973T>C (p.Leu658Pro)
c.467T>C (p.Leu156Pro)
 dbSNP
16g.2070550T>GCA394272970TSC2c.*358T>G (n.*358T>G)
c.1856T>G (p.Leu619Arg)
c.1811T>G (p.Leu604Arg)
c.*1248T>G (n.*1248T>G)
c.*1416T>G (n.*1416T>G)
c.1844T>G (p.Leu615Arg)
c.468T>G
c.*1313T>G (n.*1313T>G)
c.*311T>G (n.*311T>G)
c.1804T>G
n.803T>G
n.91T>G
n.824T>G
c.1664T>G (p.Leu555Arg)
c.*1110T>G (n.*1110T>G)
c.1700T>G (p.Leu567Arg)
n.318T>G
n.536T>G
c.451T>G (n.451T>G)
c.1211T>G (p.Leu404Arg)
c.1973T>G (p.Leu658Arg)
c.467T>G (p.Leu156Arg)
16g.2070551G>ACA492949842TSC2c.*359G>A (n.*359G>A)
c.1857G>A (p.Leu619=)
c.1812G>A (p.Leu604=)
c.*1249G>A (n.*1249G>A)
c.*1417G>A (n.*1417G>A)
c.1845G>A (p.Leu615=)
c.469G>A
c.*1314G>A (n.*1314G>A)
c.*312G>A (n.*312G>A)
c.1805G>A
n.804G>A
n.92G>A
n.825G>A
c.1665G>A (p.Leu555=)
c.*1111G>A (n.*1111G>A)
c.1701G>A (p.Leu567=)
n.319G>A
n.537G>A
c.452G>A (n.452G>A)
c.1212G>A (p.Leu404=)
c.1974G>A (p.Leu658=)
c.468G>A (p.Leu156=)
 ClinVar dbSNP gnomAD v4
16g.2070551G>CCA492949843TSC2c.*359G>C (n.*359G>C)
c.1857G>C (p.Leu619=)
c.1812G>C (p.Leu604=)
c.*1249G>C (n.*1249G>C)
c.*1417G>C (n.*1417G>C)
c.1845G>C (p.Leu615=)
c.469G>C
c.*1314G>C (n.*1314G>C)
c.*312G>C (n.*312G>C)
c.1805G>C
n.804G>C
n.92G>C
n.825G>C
c.1665G>C (p.Leu555=)
c.*1111G>C (n.*1111G>C)
c.1701G>C (p.Leu567=)
n.319G>C
n.537G>C
c.452G>C (n.452G>C)
c.1212G>C (p.Leu404=)
c.1974G>C (p.Leu658=)
c.468G>C (p.Leu156=)
 dbSNP
16g.2070551G>TCA492949845TSC2c.*359G>T (n.*359G>T)
c.1857G>T (p.Leu619=)
c.1812G>T (p.Leu604=)
c.*1249G>T (n.*1249G>T)
c.*1417G>T (n.*1417G>T)
c.1845G>T (p.Leu615=)
c.469G>T
c.*1314G>T (n.*1314G>T)
c.*312G>T (n.*312G>T)
c.1805G>T
n.804G>T
n.92G>T
n.825G>T
c.1665G>T (p.Leu555=)
c.*1111G>T (n.*1111G>T)
c.1701G>T (p.Leu567=)
n.319G>T
n.537G>T
c.452G>T (n.452G>T)
c.1212G>T (p.Leu404=)
c.1974G>T (p.Leu658=)
c.468G>T (p.Leu156=)
16g.2070552C>ACA394272972TSC2c.*360C>A (n.*360C>A)
c.1858C>A (p.Pro620Thr)
c.1813C>A (p.Pro605Thr)
c.*1250C>A (n.*1250C>A)
c.*1418C>A (n.*1418C>A)
c.1846C>A (p.Pro616Thr)
c.470C>A
c.*1315C>A (n.*1315C>A)
c.*313C>A (n.*313C>A)
c.1806C>A
n.805C>A
n.93C>A
n.826C>A
c.1666C>A (p.Pro556Thr)
c.*1112C>A (n.*1112C>A)
c.1702C>A (p.Pro568Thr)
n.320C>A
n.538C>A
c.453C>A (n.453C>A)
c.1213C>A (p.Pro405Thr)
c.1975C>A (p.Pro659Thr)
c.469C>A (p.Pro157Thr)
 ClinVar dbSNP gnomAD v4
16g.2070552C=CA2202018072TSC2c.*360C= (n.*360C=)
c.1858C= (p.Pro620=)
c.1813C= (p.Pro605=)
c.*1250C= (n.*1250C=)
c.*1418C= (n.*1418C=)
c.1846C= (p.Pro616=)
c.470C=
c.*1315C= (n.*1315C=)
c.*313C= (n.*313C=)
c.1806C=
n.805C=
n.93C=
n.826C=
c.1666C= (p.Pro556=)
c.*1112C= (n.*1112C=)
c.1702C= (p.Pro568=)
n.320C=
n.538C=
c.453C= (n.453C=)
c.1213C= (p.Pro405=)
c.1975C= (p.Pro659=)
c.469C= (p.Pro157=)
16g.2070552C>GCA394272973TSC2c.*360C>G (n.*360C>G)
c.1858C>G (p.Pro620Ala)
c.1813C>G (p.Pro605Ala)
c.*1250C>G (n.*1250C>G)
c.*1418C>G (n.*1418C>G)
c.1846C>G (p.Pro616Ala)
c.470C>G
c.*1315C>G (n.*1315C>G)
c.*313C>G (n.*313C>G)
c.1806C>G
n.805C>G
n.93C>G
n.826C>G
c.1666C>G (p.Pro556Ala)
c.*1112C>G (n.*1112C>G)
c.1702C>G (p.Pro568Ala)
n.320C>G
n.538C>G
c.453C>G (n.453C>G)
c.1213C>G (p.Pro405Ala)
c.1975C>G (p.Pro659Ala)
c.469C>G (p.Pro157Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2070552C>TCA394272974TSC2c.*360C>T (n.*360C>T)
c.1858C>T (p.Pro620Ser)
c.1813C>T (p.Pro605Ser)
c.*1250C>T (n.*1250C>T)
c.*1418C>T (n.*1418C>T)
c.1846C>T (p.Pro616Ser)
c.470C>T
c.*1315C>T (n.*1315C>T)
c.*313C>T (n.*313C>T)
c.1806C>T
n.805C>T
n.93C>T
n.826C>T
c.1666C>T (p.Pro556Ser)
c.*1112C>T (n.*1112C>T)
c.1702C>T (p.Pro568Ser)
n.320C>T
n.538C>T
c.453C>T (n.453C>T)
c.1213C>T (p.Pro405Ser)
c.1975C>T (p.Pro659Ser)
c.469C>T (p.Pro157Ser)
 ClinVar dbSNP
16g.2070553C>ACA394272975TSC2c.*361C>A (n.*361C>A)
c.1859C>A (p.Pro620Gln)
c.1814C>A (p.Pro605Gln)
c.*1251C>A (n.*1251C>A)
c.*1419C>A (n.*1419C>A)
c.1847C>A (p.Pro616Gln)
c.471C>A
c.*1316C>A (n.*1316C>A)
c.*314C>A (n.*314C>A)
c.1807C>A
n.806C>A
n.94C>A
n.827C>A
c.1667C>A (p.Pro556Gln)
c.*1113C>A (n.*1113C>A)
c.1703C>A (p.Pro568Gln)
n.321C>A
n.539C>A
c.454C>A (n.454C>A)
c.1214C>A (p.Pro405Gln)
c.1976C>A (p.Pro659Gln)
c.470C>A (p.Pro157Gln)
 dbSNP
16g.2070553C=CA2202018082TSC2c.*361C= (n.*361C=)
c.1859C= (p.Pro620=)
c.1814C= (p.Pro605=)
c.*1251C= (n.*1251C=)
c.*1419C= (n.*1419C=)
c.1847C= (p.Pro616=)
c.471C=
c.*1316C= (n.*1316C=)
c.*314C= (n.*314C=)
c.1807C=
n.806C=
n.94C=
n.827C=
c.1667C= (p.Pro556=)
c.*1113C= (n.*1113C=)
c.1703C= (p.Pro568=)
n.321C=
n.539C=
c.454C= (n.454C=)
c.1214C= (p.Pro405=)
c.1976C= (p.Pro659=)
c.470C= (p.Pro157=)
16g.2070553C>GCA394272976TSC2c.*361C>G (n.*361C>G)
c.1859C>G (p.Pro620Arg)
c.1814C>G (p.Pro605Arg)
c.*1251C>G (n.*1251C>G)
c.*1419C>G (n.*1419C>G)
c.1847C>G (p.Pro616Arg)
c.471C>G
c.*1316C>G (n.*1316C>G)
c.*314C>G (n.*314C>G)
c.1807C>G
n.806C>G
n.94C>G
n.827C>G
c.1667C>G (p.Pro556Arg)
c.*1113C>G (n.*1113C>G)
c.1703C>G (p.Pro568Arg)
n.321C>G
n.539C>G
c.454C>G (n.454C>G)
c.1214C>G (p.Pro405Arg)
c.1976C>G (p.Pro659Arg)
c.470C>G (p.Pro157Arg)
16g.2070553C>TCA394272977TSC2c.*361C>T (n.*361C>T)
c.1859C>T (p.Pro620Leu)
c.1814C>T (p.Pro605Leu)
c.*1251C>T (n.*1251C>T)
c.*1419C>T (n.*1419C>T)
c.1847C>T (p.Pro616Leu)
c.471C>T
c.*1316C>T (n.*1316C>T)
c.*314C>T (n.*314C>T)
c.1807C>T
n.806C>T
n.94C>T
n.827C>T
c.1667C>T (p.Pro556Leu)
c.*1113C>T (n.*1113C>T)
c.1703C>T (p.Pro568Leu)
n.321C>T
n.539C>T
c.454C>T (n.454C>T)
c.1214C>T (p.Pro405Leu)
c.1976C>T (p.Pro659Leu)
c.470C>T (p.Pro157Leu)
 ClinVar dbSNP gnomAD v4
16g.2070554A=CA2202018090TSC2c.*362A= (n.*362A=)
c.1860A= (p.Pro620=)
c.1815A= (p.Pro605=)
c.*1252A= (n.*1252A=)
c.*1420A= (n.*1420A=)
c.1848A= (p.Pro616=)
c.472A=
c.*1317A= (n.*1317A=)
c.*315A= (n.*315A=)
c.1808A=
n.807A=
n.95A=
n.828A=
c.1668A= (p.Pro556=)
c.*1114A= (n.*1114A=)
c.1704A= (p.Pro568=)
n.322A=
n.540A=
c.455A= (n.455A=)
c.1215A= (p.Pro405=)
c.1977A= (p.Pro659=)
c.471A= (p.Pro157=)
16g.2070554A>CCA492949861TSC2c.*362A>C (n.*362A>C)
c.1860A>C (p.Pro620=)
c.1815A>C (p.Pro605=)
c.*1252A>C (n.*1252A>C)
c.*1420A>C (n.*1420A>C)
c.1848A>C (p.Pro616=)
c.472A>C
c.*1317A>C (n.*1317A>C)
c.*315A>C (n.*315A>C)
c.1808A>C
n.807A>C
n.95A>C
n.828A>C
c.1668A>C (p.Pro556=)
c.*1114A>C (n.*1114A>C)
c.1704A>C (p.Pro568=)
n.322A>C
n.540A>C
c.455A>C (n.455A>C)
c.1215A>C (p.Pro405=)
c.1977A>C (p.Pro659=)
c.471A>C (p.Pro157=)
 dbSNP
16g.2070554A>GCA16608036TSC2c.*362A>G (n.*362A>G)
c.1860A>G (p.Pro620=)
c.1815A>G (p.Pro605=)
c.*1252A>G (n.*1252A>G)
c.*1420A>G (n.*1420A>G)
c.1848A>G (p.Pro616=)
c.472A>G
c.*1317A>G (n.*1317A>G)
c.*315A>G (n.*315A>G)
c.1808A>G
n.807A>G
n.95A>G
n.828A>G
c.1668A>G (p.Pro556=)
c.*1114A>G (n.*1114A>G)
c.1704A>G (p.Pro568=)
n.322A>G
n.540A>G
c.455A>G (n.455A>G)
c.1215A>G (p.Pro405=)
c.1977A>G (p.Pro659=)
c.471A>G (p.Pro157=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2070554A>TCA276735839TSC2c.*362A>T (n.*362A>T)
c.1860A>T (p.Pro620=)
c.1815A>T (p.Pro605=)
c.*1252A>T (n.*1252A>T)
c.*1420A>T (n.*1420A>T)
c.1848A>T (p.Pro616=)
c.472A>T
c.*1317A>T (n.*1317A>T)
c.*315A>T (n.*315A>T)
c.1808A>T
n.807A>T
n.95A>T
n.828A>T
c.1668A>T (p.Pro556=)
c.*1114A>T (n.*1114A>T)
c.1704A>T (p.Pro568=)
n.322A>T
n.540A>T
c.455A>T (n.455A>T)
c.1215A>T (p.Pro405=)
c.1977A>T (p.Pro659=)
c.471A>T (p.Pro157=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2070555A=CA2202018098TSC2c.*363A= (n.*363A=)
c.1861A= (p.Ile621=)
c.1816A= (p.Ile606=)
c.*1253A= (n.*1253A=)
c.*1421A= (n.*1421A=)
c.1849A= (p.Ile617=)
c.473A=
c.*1318A= (n.*1318A=)
c.*316A= (n.*316A=)
c.1809A=
n.808A=
n.96A=
n.829A=
c.1669A= (p.Ile557=)
c.*1115A= (n.*1115A=)
c.1705A= (p.Ile569=)
n.323A=
n.541A=
c.456A= (n.456A=)
c.1216A= (p.Ile406=)
c.1978A= (p.Ile660=)
c.472A= (p.Ile158=)
16g.2070555A>CCA394272978TSC2c.*363A>C (n.*363A>C)
c.1861A>C (p.Ile621Leu)
c.1816A>C (p.Ile606Leu)
c.*1253A>C (n.*1253A>C)
c.*1421A>C (n.*1421A>C)
c.1849A>C (p.Ile617Leu)
c.473A>C
c.*1318A>C (n.*1318A>C)
c.*316A>C (n.*316A>C)
c.1809A>C
n.808A>C
n.96A>C
n.829A>C
c.1669A>C (p.Ile557Leu)
c.*1115A>C (n.*1115A>C)
c.1705A>C (p.Ile569Leu)
n.323A>C
n.541A>C
c.456A>C (n.456A>C)
c.1216A>C (p.Ile406Leu)
c.1978A>C (p.Ile660Leu)
c.472A>C (p.Ile158Leu)
 ClinVar dbSNP
16g.2070555A>GCA033640TSC2c.*363A>G (n.*363A>G)
c.1861A>G (p.Ile621Val)
c.1816A>G (p.Ile606Val)
c.*1253A>G (n.*1253A>G)
c.*1421A>G (n.*1421A>G)
c.1849A>G (p.Ile617Val)
c.473A>G
c.*1318A>G (n.*1318A>G)
c.*316A>G (n.*316A>G)
c.1809A>G
n.808A>G
n.96A>G
n.829A>G
c.1669A>G (p.Ile557Val)
c.*1115A>G (n.*1115A>G)
c.1705A>G (p.Ile569Val)
n.323A>G
n.541A>G
c.456A>G (n.456A>G)
c.1216A>G (p.Ile406Val)
c.1978A>G (p.Ile660Val)
c.472A>G (p.Ile158Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2070555A>TCA394272979TSC2c.*363A>T (n.*363A>T)
c.1861A>T (p.Ile621Phe)
c.1816A>T (p.Ile606Phe)
c.*1253A>T (n.*1253A>T)
c.*1421A>T (n.*1421A>T)
c.1849A>T (p.Ile617Phe)
c.473A>T
c.*1318A>T (n.*1318A>T)
c.*316A>T (n.*316A>T)
c.1809A>T
n.808A>T
n.96A>T
n.829A>T
c.1669A>T (p.Ile557Phe)
c.*1115A>T (n.*1115A>T)
c.1705A>T (p.Ile569Phe)
n.323A>T
n.541A>T
c.456A>T (n.456A>T)
c.1216A>T (p.Ile406Phe)
c.1978A>T (p.Ile660Phe)
c.472A>T (p.Ile158Phe)
 ClinVar dbSNP COSMIC COSMIC
16g.2070556delCA2580090589TSC2c.*364del (n.*364del)
c.1862del (p.Ile621ThrfsTer?)
c.1817del (p.Ile606ThrfsTer?)
c.*1254del (n.*1254del)
c.*1422del (n.*1422del)
c.1850del (p.Ile617ThrfsTer?)
c.474del
c.*1319del (n.*1319del)
c.*317del (n.*317del)
c.1810del
n.809del
n.97del
n.830del
c.1670del (p.Ile557ThrfsTer?)
c.*1116del (n.*1116del)
c.1706del (p.Ile569ThrfsTer?)
n.324del
n.542del
c.457del (n.457del)
c.1217del (p.Ile406ThrfsTer?)
c.1979del (p.Ile660ThrfsTer?)
c.473del (p.Ile158ThrfsTer?)
 ClinVar
16g.2070556T>ACA394272980TSC2c.*364T>A (n.*364T>A)
c.1862T>A (p.Ile621Asn)
c.1817T>A (p.Ile606Asn)
c.*1254T>A (n.*1254T>A)
c.*1422T>A (n.*1422T>A)
c.1850T>A (p.Ile617Asn)
c.474T>A
c.*1319T>A (n.*1319T>A)
c.*317T>A (n.*317T>A)
c.1810T>A
n.809T>A
n.97T>A
n.830T>A
c.1670T>A (p.Ile557Asn)
c.*1116T>A (n.*1116T>A)
c.1706T>A (p.Ile569Asn)
n.324T>A
n.542T>A
c.457T>A (n.457T>A)
c.1217T>A (p.Ile406Asn)
c.1979T>A (p.Ile660Asn)
c.473T>A (p.Ile158Asn)
 dbSNP
16g.2070556T>CCA394272981TSC2c.*364T>C (n.*364T>C)
c.1862T>C (p.Ile621Thr)
c.1817T>C (p.Ile606Thr)
c.*1254T>C (n.*1254T>C)
c.*1422T>C (n.*1422T>C)
c.1850T>C (p.Ile617Thr)
c.474T>C
c.*1319T>C (n.*1319T>C)
c.*317T>C (n.*317T>C)
c.1810T>C
n.809T>C
n.97T>C
n.830T>C
c.1670T>C (p.Ile557Thr)
c.*1116T>C (n.*1116T>C)
c.1706T>C (p.Ile569Thr)
n.324T>C
n.542T>C
c.457T>C (n.457T>C)
c.1217T>C (p.Ile406Thr)
c.1979T>C (p.Ile660Thr)
c.473T>C (p.Ile158Thr)
 ClinVar
16g.2070556T>GCA394272982TSC2c.*364T>G (n.*364T>G)
c.1862T>G (p.Ile621Ser)
c.1817T>G (p.Ile606Ser)
c.*1254T>G (n.*1254T>G)
c.*1422T>G (n.*1422T>G)
c.1850T>G (p.Ile617Ser)
c.474T>G
c.*1319T>G (n.*1319T>G)
c.*317T>G (n.*317T>G)
c.1810T>G
n.809T>G
n.97T>G
n.830T>G
c.1670T>G (p.Ile557Ser)
c.*1116T>G (n.*1116T>G)
c.1706T>G (p.Ile569Ser)
n.324T>G
n.542T>G
c.457T>G (n.457T>G)
c.1217T>G (p.Ile406Ser)
c.1979T>G (p.Ile660Ser)
c.473T>G (p.Ile158Ser)
 dbSNP
16g.2070557C>ACA492949876TSC2c.*365C>A (n.*365C>A)
c.1863C>A (p.Ile621=)
c.1818C>A (p.Ile606=)
c.*1255C>A (n.*1255C>A)
c.*1423C>A (n.*1423C>A)
c.1851C>A (p.Ile617=)
c.475C>A
c.*1320C>A (n.*1320C>A)
c.*318C>A (n.*318C>A)
c.1811C>A
n.810C>A
n.98C>A
n.831C>A
c.1671C>A (p.Ile557=)
c.*1117C>A (n.*1117C>A)
c.1707C>A (p.Ile569=)
n.325C>A
n.543C>A
c.458C>A (n.458C>A)
c.1218C>A (p.Ile406=)
c.1980C>A (p.Ile660=)
c.474C>A (p.Ile158=)
 dbSNP
16g.2070557C=CA2202018108TSC2c.*365C= (n.*365C=)
c.1863C= (p.Ile621=)
c.1818C= (p.Ile606=)
c.*1255C= (n.*1255C=)
c.*1423C= (n.*1423C=)
c.1851C= (p.Ile617=)
c.475C=
c.*1320C= (n.*1320C=)
c.*318C= (n.*318C=)
c.1811C=
n.810C=
n.98C=
n.831C=
c.1671C= (p.Ile557=)
c.*1117C= (n.*1117C=)
c.1707C= (p.Ile569=)
n.325C=
n.543C=
c.458C= (n.458C=)
c.1218C= (p.Ile406=)
c.1980C= (p.Ile660=)
c.474C= (p.Ile158=)
16g.2070557C>GCA394272983TSC2c.*365C>G (n.*365C>G)
c.1863C>G (p.Ile621Met)
c.1818C>G (p.Ile606Met)
c.*1255C>G (n.*1255C>G)
c.*1423C>G (n.*1423C>G)
c.1851C>G (p.Ile617Met)
c.475C>G
c.*1320C>G (n.*1320C>G)
c.*318C>G (n.*318C>G)
c.1811C>G
n.810C>G
n.98C>G
n.831C>G
c.1671C>G (p.Ile557Met)
c.*1117C>G (n.*1117C>G)
c.1707C>G (p.Ile569Met)
n.325C>G
n.543C>G
c.458C>G (n.458C>G)
c.1218C>G (p.Ile406Met)
c.1980C>G (p.Ile660Met)
c.474C>G (p.Ile158Met)
 ClinVar dbSNP
16g.2070557C>TCA033655TSC2c.*365C>T (n.*365C>T)
c.1863C>T (p.Ile621=)
c.1818C>T (p.Ile606=)
c.*1255C>T (n.*1255C>T)
c.*1423C>T (n.*1423C>T)
c.1851C>T (p.Ile617=)
c.475C>T
c.*1320C>T (n.*1320C>T)
c.*318C>T (n.*318C>T)
c.1811C>T
n.810C>T
n.98C>T
n.831C>T
c.1671C>T (p.Ile557=)
c.*1117C>T (n.*1117C>T)
c.1707C>T (p.Ile569=)
n.325C>T
n.543C>T
c.458C>T (n.458C>T)
c.1218C>T (p.Ile406=)
c.1980C>T (p.Ile660=)
c.474C>T (p.Ile158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2070558G>ACA015854TSC2c.*366G>A (n.*366G>A)
c.1864G>A (p.Ala622Thr)
c.1819G>A (p.Ala607Thr)
c.*1256G>A (n.*1256G>A)
c.*1424G>A (n.*1424G>A)
c.1852G>A (p.Ala618Thr)
c.476G>A
c.*1321G>A (n.*1321G>A)
c.*319G>A (n.*319G>A)
c.1812G>A
n.811G>A
n.99G>A
n.832G>A
c.1672G>A (p.Ala558Thr)
c.*1118G>A (n.*1118G>A)
c.1708G>A (p.Ala570Thr)
n.326G>A
n.544G>A
c.459G>A (n.459G>A)
c.1219G>A (p.Ala407Thr)
c.1981G>A (p.Ala661Thr)
c.475G>A (p.Ala159Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.2070558G>CCA394272984TSC2c.*366G>C (n.*366G>C)
c.1864G>C (p.Ala622Pro)
c.1819G>C (p.Ala607Pro)
c.*1256G>C (n.*1256G>C)
c.*1424G>C (n.*1424G>C)
c.1852G>C (p.Ala618Pro)
c.476G>C
c.*1321G>C (n.*1321G>C)
c.*319G>C (n.*319G>C)
c.1812G>C
n.811G>C
n.99G>C
n.832G>C
c.1672G>C (p.Ala558Pro)
c.*1118G>C (n.*1118G>C)
c.1708G>C (p.Ala570Pro)
n.326G>C
n.544G>C
c.459G>C (n.459G>C)
c.1219G>C (p.Ala407Pro)
c.1981G>C (p.Ala661Pro)
c.475G>C (p.Ala159Pro)
 dbSNP
16g.2070558G=CA2202018116TSC2c.*366G= (n.*366G=)
c.1864G= (p.Ala622=)
c.1819G= (p.Ala607=)
c.*1256G= (n.*1256G=)
c.*1424G= (n.*1424G=)
c.1852G= (p.Ala618=)
c.476G=
c.*1321G= (n.*1321G=)
c.*319G= (n.*319G=)
c.1812G=
n.811G=
n.99G=
n.832G=
c.1672G= (p.Ala558=)
c.*1118G= (n.*1118G=)
c.1708G= (p.Ala570=)
n.326G=
n.544G=
c.459G= (n.459G=)
c.1219G= (p.Ala407=)
c.1981G= (p.Ala661=)
c.475G= (p.Ala159=)
16g.2070558G>TCA015864TSC2c.*366G>T (n.*366G>T)
c.1864G>T (p.Ala622Ser)
c.1819G>T (p.Ala607Ser)
c.*1256G>T (n.*1256G>T)
c.*1424G>T (n.*1424G>T)
c.1852G>T (p.Ala618Ser)
c.476G>T
c.*1321G>T (n.*1321G>T)
c.*319G>T (n.*319G>T)
c.1812G>T
n.811G>T
n.99G>T
n.832G>T
c.1672G>T (p.Ala558Ser)
c.*1118G>T (n.*1118G>T)
c.1708G>T (p.Ala570Ser)
n.326G>T
n.544G>T
c.459G>T (n.459G>T)
c.1219G>T (p.Ala407Ser)
c.1981G>T (p.Ala661Ser)
c.475G>T (p.Ala159Ser)
 ClinVar dbSNP
16g.2070560_2070566delCA2695221333TSC2c.*368_*374del (n.*368_*374del)
c.1866_1872del (p.Ser624GlyfsTer?)
c.1821_1827del (p.Ser609GlyfsTer?)
c.*1258_*1264del (n.*1258_*1264del)
c.*1426_*1432del (n.*1426_*1432del)
c.1854_1860del (p.Ser620GlyfsTer?)
c.478_484del
c.*1323_*1329del (n.*1323_*1329del)
c.*321_*327del (n.*321_*327del)
c.1814_1820del
n.813_819del
n.101_107del
n.834_840del
c.1674_1680del (p.Ser560GlyfsTer?)
c.*1120_*1126del (n.*1120_*1126del)
c.1710_1716del (p.Ser572GlyfsTer?)
n.328_334del
n.546_552del
c.461_467del (n.461_467del)
c.1221_1227del (p.Ser409GlyfsTer?)
c.1983_1989del (p.Ser663GlyfsTer?)
c.477_483del (p.Ser161GlyfsTer?)
16g.2070560_2070573delCA2695221334TSC2c.*368_*381del (n.*368_*381del)
c.1866_1879del (p.Ser623AlafsTer4)
c.1821_1834del (p.Ser608AlafsTer4)
c.*1258_*1271del (n.*1258_*1271del)
c.*1426_*1439del (n.*1426_*1439del)
c.1854_1867del (p.Ser619AlafsTer4)
c.478_491del
c.*1323_*1336del (n.*1323_*1336del)
c.*321_*334del (n.*321_*334del)
c.1814_1827del
n.813_826del
n.101_114del
n.834_847del
c.1674_1687del (p.Ser559AlafsTer4)
c.*1120_*1133del (n.*1120_*1133del)
c.1710_1723del (p.Ser571AlafsTer4)
n.328_341del
n.546_559del
c.461_474del (n.461_474del)
c.1221_1234del (p.Ser408AlafsTer4)
c.1983_1996del (p.Ser662AlafsTer4)
c.477_490del (p.Ser160AlafsTer4)
16g.2070559C>ACA015874TSC2c.*367C>A (n.*367C>A)
c.1865C>A (p.Ala622Glu)
c.1820C>A (p.Ala607Glu)
c.*1257C>A (n.*1257C>A)
c.*1425C>A (n.*1425C>A)
c.1853C>A (p.Ala618Glu)
c.477C>A
c.*1322C>A (n.*1322C>A)
c.*320C>A (n.*320C>A)
c.1813C>A
n.812C>A
n.100C>A
n.833C>A
c.1673C>A (p.Ala558Glu)
c.*1119C>A (n.*1119C>A)
c.1709C>A (p.Ala570Glu)
n.327C>A
n.545C>A
c.460C>A (n.460C>A)
c.1220C>A (p.Ala407Glu)
c.1982C>A (p.Ala661Glu)
c.476C>A (p.Ala159Glu)
 ClinVar dbSNP
16g.2070559C=CA2202018127TSC2c.*367C= (n.*367C=)
c.1865C= (p.Ala622=)
c.1820C= (p.Ala607=)
c.*1257C= (n.*1257C=)
c.*1425C= (n.*1425C=)
c.1853C= (p.Ala618=)
c.477C=
c.*1322C= (n.*1322C=)
c.*320C= (n.*320C=)
c.1813C=
n.812C=
n.100C=
n.833C=
c.1673C= (p.Ala558=)
c.*1119C= (n.*1119C=)
c.1709C= (p.Ala570=)
n.327C=
n.545C=
c.460C= (n.460C=)
c.1220C= (p.Ala407=)
c.1982C= (p.Ala661=)
c.476C= (p.Ala159=)
16g.2070559C>GCA394272985TSC2c.*367C>G (n.*367C>G)
c.1865C>G (p.Ala622Gly)
c.1820C>G (p.Ala607Gly)
c.*1257C>G (n.*1257C>G)
c.*1425C>G (n.*1425C>G)
c.1853C>G (p.Ala618Gly)
c.477C>G
c.*1322C>G (n.*1322C>G)
c.*320C>G (n.*320C>G)
c.1813C>G
n.812C>G
n.100C>G
n.833C>G
c.1673C>G (p.Ala558Gly)
c.*1119C>G (n.*1119C>G)
c.1709C>G (p.Ala570Gly)
n.327C>G
n.545C>G
c.460C>G (n.460C>G)
c.1220C>G (p.Ala407Gly)
c.1982C>G (p.Ala661Gly)
c.476C>G (p.Ala159Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2070559C>TCA015881TSC2c.*367C>T (n.*367C>T)
c.1865C>T (p.Ala622Val)
c.1820C>T (p.Ala607Val)
c.*1257C>T (n.*1257C>T)
c.*1425C>T (n.*1425C>T)
c.1853C>T (p.Ala618Val)
c.477C>T
c.*1322C>T (n.*1322C>T)
c.*320C>T (n.*320C>T)
c.1813C>T
n.812C>T
n.100C>T
n.833C>T
c.1673C>T (p.Ala558Val)
c.*1119C>T (n.*1119C>T)
c.1709C>T (p.Ala570Val)
n.327C>T
n.545C>T
c.460C>T (n.460C>T)
c.1220C>T (p.Ala407Val)
c.1982C>T (p.Ala661Val)
c.476C>T (p.Ala159Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2070560G>ACA015889TSC2c.*368G>A (n.*368G>A)
c.1866G>A (p.Ala622=)
c.1821G>A (p.Ala607=)
c.*1258G>A (n.*1258G>A)
c.*1426G>A (n.*1426G>A)
c.1854G>A (p.Ala618=)
c.478G>A
c.*1323G>A (n.*1323G>A)
c.*321G>A (n.*321G>A)
c.1814G>A
n.813G>A
n.101G>A
n.834G>A
c.1674G>A (p.Ala558=)
c.*1120G>A (n.*1120G>A)
c.1710G>A (p.Ala570=)
n.328G>A
n.546G>A
c.461G>A (n.461G>A)
c.1221G>A (p.Ala407=)
c.1983G>A (p.Ala661=)
c.477G>A (p.Ala159=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2070560G>CCA492949893TSC2c.*368G>C (n.*368G>C)
c.1866G>C (p.Ala622=)
c.1821G>C (p.Ala607=)
c.*1258G>C (n.*1258G>C)
c.*1426G>C (n.*1426G>C)
c.1854G>C (p.Ala618=)
c.478G>C
c.*1323G>C (n.*1323G>C)
c.*321G>C (n.*321G>C)
c.1814G>C
n.813G>C
n.101G>C
n.834G>C
c.1674G>C (p.Ala558=)
c.*1120G>C (n.*1120G>C)
c.1710G>C (p.Ala570=)
n.328G>C
n.546G>C
c.461G>C (n.461G>C)
c.1221G>C (p.Ala407=)
c.1983G>C (p.Ala661=)
c.477G>C (p.Ala159=)
 ClinVar dbSNP gnomAD v4
16g.2070560G=CA2202018145TSC2c.*368G= (n.*368G=)
c.1866G= (p.Ala622=)
c.1821G= (p.Ala607=)
c.*1258G= (n.*1258G=)
c.*1426G= (n.*1426G=)
c.1854G= (p.Ala618=)
c.478G=
c.*1323G= (n.*1323G=)
c.*321G= (n.*321G=)
c.1814G=
n.813G=
n.101G=
n.834G=
c.1674G= (p.Ala558=)
c.*1120G= (n.*1120G=)
c.1710G= (p.Ala570=)
n.328G=
n.546G=
c.461G= (n.461G=)
c.1221G= (p.Ala407=)
c.1983G= (p.Ala661=)
c.477G= (p.Ala159=)
16g.2070560G>TCA492949887TSC2c.*368G>T (n.*368G>T)
c.1866G>T (p.Ala622=)
c.1821G>T (p.Ala607=)
c.*1258G>T (n.*1258G>T)
c.*1426G>T (n.*1426G>T)
c.1854G>T (p.Ala618=)
c.478G>T
c.*1323G>T (n.*1323G>T)
c.*321G>T (n.*321G>T)
c.1814G>T
n.813G>T
n.101G>T
n.834G>T
c.1674G>T (p.Ala558=)
c.*1120G>T (n.*1120G>T)
c.1710G>T (p.Ala570=)
n.328G>T
n.546G>T
c.461G>T (n.461G>T)
c.1221G>T (p.Ala407=)
c.1983G>T (p.Ala661=)
c.477G>T (p.Ala159=)
16g.2070561A>CCA394272986TSC2c.*369A>C (n.*369A>C)
c.1867A>C (p.Ser623Arg)
c.1822A>C (p.Ser608Arg)
c.*1259A>C (n.*1259A>C)
c.*1427A>C (n.*1427A>C)
c.1855A>C (p.Ser619Arg)
c.479A>C
c.*1324A>C (n.*1324A>C)
c.*322A>C (n.*322A>C)
c.1815A>C
n.814A>C
n.102A>C
n.835A>C
c.1675A>C (p.Ser559Arg)
c.*1121A>C (n.*1121A>C)
c.1711A>C (p.Ser571Arg)
n.329A>C
n.547A>C
c.462A>C (n.462A>C)
c.1222A>C (p.Ser408Arg)
c.1984A>C (p.Ser662Arg)
c.478A>C (p.Ser160Arg)
16g.2070561A>GCA394272987TSC2c.*369A>G (n.*369A>G)
c.1867A>G (p.Ser623Gly)
c.1822A>G (p.Ser608Gly)
c.*1259A>G (n.*1259A>G)
c.*1427A>G (n.*1427A>G)
c.1855A>G (p.Ser619Gly)
c.479A>G
c.*1324A>G (n.*1324A>G)
c.*322A>G (n.*322A>G)
c.1815A>G
n.814A>G
n.102A>G
n.835A>G
c.1675A>G (p.Ser559Gly)
c.*1121A>G (n.*1121A>G)
c.1711A>G (p.Ser571Gly)
n.329A>G
n.547A>G
c.462A>G (n.462A>G)
c.1222A>G (p.Ser408Gly)
c.1984A>G (p.Ser662Gly)
c.478A>G (p.Ser160Gly)
 dbSNP
16g.2070561A>TCA394272988TSC2c.*369A>T (n.*369A>T)
c.1867A>T (p.Ser623Cys)
c.1822A>T (p.Ser608Cys)
c.*1259A>T (n.*1259A>T)
c.*1427A>T (n.*1427A>T)
c.1855A>T (p.Ser619Cys)
c.479A>T
c.*1324A>T (n.*1324A>T)
c.*322A>T (n.*322A>T)
c.1815A>T
n.814A>T
n.102A>T
n.835A>T
c.1675A>T (p.Ser559Cys)
c.*1121A>T (n.*1121A>T)
c.1711A>T (p.Ser571Cys)
n.329A>T
n.547A>T
c.462A>T (n.462A>T)
c.1222A>T (p.Ser408Cys)
c.1984A>T (p.Ser662Cys)
c.478A>T (p.Ser160Cys)
 dbSNP
16g.2070565_2070567dupCA015900TSC2c.*373_*375dup (n.*373_*375dup)
c.1871_1873dup (p.Ser624_Ile625insSer)
c.1826_1828dup (p.Ser609_Ile610insSer)
c.*1263_*1265dup (n.*1263_*1265dup)
c.*1431_*1433dup (n.*1431_*1433dup)
c.1859_1861dup (p.Ser620_Ile621insSer)
c.483_485dup
c.*1328_*1330dup (n.*1328_*1330dup)
c.*326_*328dup (n.*326_*328dup)
c.1819_1821dup
n.818_820dup
n.106_108dup
n.839_841dup
c.1679_1681dup (p.Ser560_Ile561insSer)
c.*1125_*1127dup (n.*1125_*1127dup)
c.1715_1717dup (p.Ser572_Ile573insSer)
n.333_335dup
n.551_553dup
c.466_468dup (n.466_468dup)
c.1226_1228dup (p.Ser409_Ile410insSer)
c.1988_1990dup (p.Ser663_Ile664insSer)
c.482_484dup (p.Ser161_Ile162insSer)
 ClinVar dbSNP
16g.2070562G>ACA394272989TSC2c.*370G>A (n.*370G>A)
c.1868G>A (p.Ser623Asn)
c.1823G>A (p.Ser608Asn)
c.*1260G>A (n.*1260G>A)
c.*1428G>A (n.*1428G>A)
c.1856G>A (p.Ser619Asn)
c.480G>A
c.*1325G>A (n.*1325G>A)
c.*323G>A (n.*323G>A)
c.1816G>A
n.815G>A
n.103G>A
n.836G>A
c.1676G>A (p.Ser559Asn)
c.*1122G>A (n.*1122G>A)
c.1712G>A (p.Ser571Asn)
n.330G>A
n.548G>A
c.463G>A (n.463G>A)
c.1223G>A (p.Ser408Asn)
c.1985G>A (p.Ser662Asn)
c.479G>A (p.Ser160Asn)
 ClinVar dbSNP
16g.2070562G>CCA033723TSC2c.*370G>C (n.*370G>C)
c.1868G>C (p.Ser623Thr)
c.1823G>C (p.Ser608Thr)
c.*1260G>C (n.*1260G>C)
c.*1428G>C (n.*1428G>C)
c.1856G>C (p.Ser619Thr)
c.480G>C
c.*1325G>C (n.*1325G>C)
c.*323G>C (n.*323G>C)
c.1816G>C
n.815G>C
n.103G>C
n.836G>C
c.1676G>C (p.Ser559Thr)
c.*1122G>C (n.*1122G>C)
c.1712G>C (p.Ser571Thr)
n.330G>C
n.548G>C
c.463G>C (n.463G>C)
c.1223G>C (p.Ser408Thr)
c.1985G>C (p.Ser662Thr)
c.479G>C (p.Ser160Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070562G=CA2202018160TSC2c.*370G= (n.*370G=)
c.1868G= (p.Ser623=)
c.1823G= (p.Ser608=)
c.*1260G= (n.*1260G=)
c.*1428G= (n.*1428G=)
c.1856G= (p.Ser619=)
c.480G=
c.*1325G= (n.*1325G=)
c.*323G= (n.*323G=)
c.1816G=
n.815G=
n.103G=
n.836G=
c.1676G= (p.Ser559=)
c.*1122G= (n.*1122G=)
c.1712G= (p.Ser571=)
n.330G=
n.548G=
c.463G= (n.463G=)
c.1223G= (p.Ser408=)
c.1985G= (p.Ser662=)
c.479G= (p.Ser160=)
16g.2070562G>TCA394272990TSC2c.*370G>T (n.*370G>T)
c.1868G>T (p.Ser623Ile)
c.1823G>T (p.Ser608Ile)
c.*1260G>T (n.*1260G>T)
c.*1428G>T (n.*1428G>T)
c.1856G>T (p.Ser619Ile)
c.480G>T
c.*1325G>T (n.*1325G>T)
c.*323G>T (n.*323G>T)
c.1816G>T
n.815G>T
n.103G>T
n.836G>T
c.1676G>T (p.Ser559Ile)
c.*1122G>T (n.*1122G>T)
c.1712G>T (p.Ser571Ile)
n.330G>T
n.548G>T
c.463G>T (n.463G>T)
c.1223G>T (p.Ser408Ile)
c.1985G>T (p.Ser662Ile)
c.479G>T (p.Ser160Ile)
16g.2070563C>ACA394272992TSC2c.*371C>A (n.*371C>A)
c.1869C>A (p.Ser623Arg)
c.1824C>A (p.Ser608Arg)
c.*1261C>A (n.*1261C>A)
c.*1429C>A (n.*1429C>A)
c.1857C>A (p.Ser619Arg)
c.481C>A
c.*1326C>A (n.*1326C>A)
c.*324C>A (n.*324C>A)
c.1817C>A
n.816C>A
n.104C>A
n.837C>A
c.1677C>A (p.Ser559Arg)
c.*1123C>A (n.*1123C>A)
c.1713C>A (p.Ser571Arg)
n.331C>A
n.549C>A
c.464C>A (n.464C>A)
c.1224C>A (p.Ser408Arg)
c.1986C>A (p.Ser662Arg)
c.480C>A (p.Ser160Arg)
16g.2070563C=CA2202018166TSC2c.*371C= (n.*371C=)
c.1869C= (p.Ser623=)
c.1824C= (p.Ser608=)
c.*1261C= (n.*1261C=)
c.*1429C= (n.*1429C=)
c.1857C= (p.Ser619=)
c.481C=
c.*1326C= (n.*1326C=)
c.*324C= (n.*324C=)
c.1817C=
n.816C=
n.104C=
n.837C=
c.1677C= (p.Ser559=)
c.*1123C= (n.*1123C=)
c.1713C= (p.Ser571=)
n.331C=
n.549C=
c.464C= (n.464C=)
c.1224C= (p.Ser408=)
c.1986C= (p.Ser662=)
c.480C= (p.Ser160=)
16g.2070563C>GCA394272991TSC2c.*371C>G (n.*371C>G)
c.1869C>G (p.Ser623Arg)
c.1824C>G (p.Ser608Arg)
c.*1261C>G (n.*1261C>G)
c.*1429C>G (n.*1429C>G)
c.1857C>G (p.Ser619Arg)
c.481C>G
c.*1326C>G (n.*1326C>G)
c.*324C>G (n.*324C>G)
c.1817C>G
n.816C>G
n.104C>G
n.837C>G
c.1677C>G (p.Ser559Arg)
c.*1123C>G (n.*1123C>G)
c.1713C>G (p.Ser571Arg)
n.331C>G
n.549C>G
c.464C>G (n.464C>G)
c.1224C>G (p.Ser408Arg)
c.1986C>G (p.Ser662Arg)
c.480C>G (p.Ser160Arg)
 dbSNP
16g.2070563C>TCA10587225TSC2c.*371C>T (n.*371C>T)
c.1869C>T (p.Ser623=)
c.1824C>T (p.Ser608=)
c.*1261C>T (n.*1261C>T)
c.*1429C>T (n.*1429C>T)
c.1857C>T (p.Ser619=)
c.481C>T
c.*1326C>T (n.*1326C>T)
c.*324C>T (n.*324C>T)
c.1817C>T
n.816C>T
n.104C>T
n.837C>T
c.1677C>T (p.Ser559=)
c.*1123C>T (n.*1123C>T)
c.1713C>T (p.Ser571=)
n.331C>T
n.549C>T
c.464C>T (n.464C>T)
c.1224C>T (p.Ser408=)
c.1986C>T (p.Ser662=)
c.480C>T (p.Ser160=)
 ClinVar dbSNP
16g.2070564A>CCA394272993TSC2c.*372A>C (n.*372A>C)
c.1870A>C (p.Ser624Arg)
c.1825A>C (p.Ser609Arg)
c.*1262A>C (n.*1262A>C)
c.*1430A>C (n.*1430A>C)
c.1858A>C (p.Ser620Arg)
c.482A>C
c.*1327A>C (n.*1327A>C)
c.*325A>C (n.*325A>C)
c.1818A>C
n.817A>C
n.105A>C
n.838A>C
c.1678A>C (p.Ser560Arg)
c.*1124A>C (n.*1124A>C)
c.1714A>C (p.Ser572Arg)
n.332A>C
n.550A>C
c.465A>C (n.465A>C)
c.1225A>C (p.Ser409Arg)
c.1987A>C (p.Ser663Arg)
c.481A>C (p.Ser161Arg)
16g.2070564A>GCA394272994TSC2c.*372A>G (n.*372A>G)
c.1870A>G (p.Ser624Gly)
c.1825A>G (p.Ser609Gly)
c.*1262A>G (n.*1262A>G)
c.*1430A>G (n.*1430A>G)
c.1858A>G (p.Ser620Gly)
c.482A>G
c.*1327A>G (n.*1327A>G)
c.*325A>G (n.*325A>G)
c.1818A>G
n.817A>G
n.105A>G
n.838A>G
c.1678A>G (p.Ser560Gly)
c.*1124A>G (n.*1124A>G)
c.1714A>G (p.Ser572Gly)
n.332A>G
n.550A>G
c.465A>G (n.465A>G)
c.1225A>G (p.Ser409Gly)
c.1987A>G (p.Ser663Gly)
c.481A>G (p.Ser161Gly)
 ClinVar dbSNP gnomAD v4
16g.2070564A>TCA394272995TSC2c.*372A>T (n.*372A>T)
c.1870A>T (p.Ser624Cys)
c.1825A>T (p.Ser609Cys)
c.*1262A>T (n.*1262A>T)
c.*1430A>T (n.*1430A>T)
c.1858A>T (p.Ser620Cys)
c.482A>T
c.*1327A>T (n.*1327A>T)
c.*325A>T (n.*325A>T)
c.1818A>T
n.817A>T
n.105A>T
n.838A>T
c.1678A>T (p.Ser560Cys)
c.*1124A>T (n.*1124A>T)
c.1714A>T (p.Ser572Cys)
n.332A>T
n.550A>T
c.465A>T (n.465A>T)
c.1225A>T (p.Ser409Cys)
c.1987A>T (p.Ser663Cys)
c.481A>T (p.Ser161Cys)
 gnomAD v4
16g.2070565G>ACA394272996TSC2c.*373G>A (n.*373G>A)
c.1871G>A (p.Ser624Asn)
c.1826G>A (p.Ser609Asn)
c.*1263G>A (n.*1263G>A)
c.*1431G>A (n.*1431G>A)
c.1859G>A (p.Ser620Asn)
c.483G>A
c.*1328G>A (n.*1328G>A)
c.*326G>A (n.*326G>A)
c.1819G>A
n.818G>A
n.106G>A
n.839G>A
c.1679G>A (p.Ser560Asn)
c.*1125G>A (n.*1125G>A)
c.1715G>A (p.Ser572Asn)
n.333G>A
n.551G>A
c.466G>A (n.466G>A)
c.1226G>A (p.Ser409Asn)
c.1988G>A (p.Ser663Asn)
c.482G>A (p.Ser161Asn)
 dbSNP
16g.2070565G>CCA394272997TSC2c.*373G>C (n.*373G>C)
c.1871G>C (p.Ser624Thr)
c.1826G>C (p.Ser609Thr)
c.*1263G>C (n.*1263G>C)
c.*1431G>C (n.*1431G>C)
c.1859G>C (p.Ser620Thr)
c.483G>C
c.*1328G>C (n.*1328G>C)
c.*326G>C (n.*326G>C)
c.1819G>C
n.818G>C
n.106G>C
n.839G>C
c.1679G>C (p.Ser560Thr)
c.*1125G>C (n.*1125G>C)
c.1715G>C (p.Ser572Thr)
n.333G>C
n.551G>C
c.466G>C (n.466G>C)
c.1226G>C (p.Ser409Thr)
c.1988G>C (p.Ser663Thr)
c.482G>C (p.Ser161Thr)
 dbSNP
16g.2070565G>TCA394272998TSC2c.*373G>T (n.*373G>T)
c.1871G>T (p.Ser624Ile)
c.1826G>T (p.Ser609Ile)
c.*1263G>T (n.*1263G>T)
c.*1431G>T (n.*1431G>T)
c.1859G>T (p.Ser620Ile)
c.483G>T
c.*1328G>T (n.*1328G>T)
c.*326G>T (n.*326G>T)
c.1819G>T
n.818G>T
n.106G>T
n.839G>T
c.1679G>T (p.Ser560Ile)
c.*1125G>T (n.*1125G>T)
c.1715G>T (p.Ser572Ile)
n.333G>T
n.551G>T
c.466G>T (n.466G>T)
c.1226G>T (p.Ser409Ile)
c.1988G>T (p.Ser663Ile)
c.482G>T (p.Ser161Ile)
 ClinVar gnomAD v4
16g.2070565dupCA2695221335TSC2c.*373dup (n.*373dup)
c.1871dup (p.Ser624ArgfsTer8)
c.1826dup (p.Ser609ArgfsTer8)
c.*1263dup (n.*1263dup)
c.*1431dup (n.*1431dup)
c.1859dup (p.Ser620ArgfsTer8)
c.483dup
c.*1328dup (n.*1328dup)
c.*326dup (n.*326dup)
c.1819dup
n.818dup
n.106dup
n.839dup
c.1679dup (p.Ser560ArgfsTer8)
c.*1125dup (n.*1125dup)
c.1715dup (p.Ser572ArgfsTer8)
n.333dup
n.551dup
c.466dup (n.466dup)
c.1226dup (p.Ser409ArgfsTer8)
c.1988dup (p.Ser663ArgfsTer8)
c.482dup (p.Ser161ArgfsTer8)
16g.2070566C>ACA394272999TSC2c.*374C>A (n.*374C>A)
c.1872C>A (p.Ser624Arg)
c.1827C>A (p.Ser609Arg)
c.*1264C>A (n.*1264C>A)
c.*1432C>A (n.*1432C>A)
c.1860C>A (p.Ser620Arg)
c.484C>A
c.*1329C>A (n.*1329C>A)
c.*327C>A (n.*327C>A)
c.1820C>A
n.819C>A
n.107C>A
n.840C>A
c.1680C>A (p.Ser560Arg)
c.*1126C>A (n.*1126C>A)
c.1716C>A (p.Ser572Arg)
n.334C>A
n.552C>A
c.467C>A (n.467C>A)
c.1227C>A (p.Ser409Arg)
c.1989C>A (p.Ser663Arg)
c.483C>A (p.Ser161Arg)
 dbSNP
16g.2070566C>GCA394273000TSC2c.*374C>G (n.*374C>G)
c.1872C>G (p.Ser624Arg)
c.1827C>G (p.Ser609Arg)
c.*1264C>G (n.*1264C>G)
c.*1432C>G (n.*1432C>G)
c.1860C>G (p.Ser620Arg)
c.484C>G
c.*1329C>G (n.*1329C>G)
c.*327C>G (n.*327C>G)
c.1820C>G
n.819C>G
n.107C>G
n.840C>G
c.1680C>G (p.Ser560Arg)
c.*1126C>G (n.*1126C>G)
c.1716C>G (p.Ser572Arg)
n.334C>G
n.552C>G
c.467C>G (n.467C>G)
c.1227C>G (p.Ser409Arg)
c.1989C>G (p.Ser663Arg)
c.483C>G (p.Ser161Arg)
 dbSNP
16g.2070566C>TCA492949935TSC2c.*374C>T (n.*374C>T)
c.1872C>T (p.Ser624=)
c.1827C>T (p.Ser609=)
c.*1264C>T (n.*1264C>T)
c.*1432C>T (n.*1432C>T)
c.1860C>T (p.Ser620=)
c.484C>T
c.*1329C>T (n.*1329C>T)
c.*327C>T (n.*327C>T)
c.1820C>T
n.819C>T
n.107C>T
n.840C>T
c.1680C>T (p.Ser560=)
c.*1126C>T (n.*1126C>T)
c.1716C>T (p.Ser572=)
n.334C>T
n.552C>T
c.467C>T (n.467C>T)
c.1227C>T (p.Ser409=)
c.1989C>T (p.Ser663=)
c.483C>T (p.Ser161=)
 ClinVar dbSNP gnomAD v4
16g.2070567A=CA2202018171TSC2c.*375A= (n.*375A=)
c.1873A= (p.Ile625=)
c.1828A= (p.Ile610=)
c.*1265A= (n.*1265A=)
c.*1433A= (n.*1433A=)
c.1861A= (p.Ile621=)
c.485A=
c.*1330A= (n.*1330A=)
c.*328A= (n.*328A=)
c.1821A=
n.820A=
n.108A=
n.841A=
c.1681A= (p.Ile561=)
c.*1127A= (n.*1127A=)
c.1717A= (p.Ile573=)
n.335A=
n.553A=
c.468A= (n.468A=)
c.1228A= (p.Ile410=)
c.1990A= (p.Ile664=)
c.484A= (p.Ile162=)
16g.2070567A>CCA394273001TSC2c.*375A>C (n.*375A>C)
c.1873A>C (p.Ile625Leu)
c.1828A>C (p.Ile610Leu)
c.*1265A>C (n.*1265A>C)
c.*1433A>C (n.*1433A>C)
c.1861A>C (p.Ile621Leu)
c.485A>C
c.*1330A>C (n.*1330A>C)
c.*328A>C (n.*328A>C)
c.1821A>C
n.820A>C
n.108A>C
n.841A>C
c.1681A>C (p.Ile561Leu)
c.*1127A>C (n.*1127A>C)
c.1717A>C (p.Ile573Leu)
n.335A>C
n.553A>C
c.468A>C (n.468A>C)
c.1228A>C (p.Ile410Leu)
c.1990A>C (p.Ile664Leu)
c.484A>C (p.Ile162Leu)
 ClinVar dbSNP gnomAD v4
16g.2070567A>GCA394273002TSC2c.*375A>G (n.*375A>G)
c.1873A>G (p.Ile625Val)
c.1828A>G (p.Ile610Val)
c.*1265A>G (n.*1265A>G)
c.*1433A>G (n.*1433A>G)
c.1861A>G (p.Ile621Val)
c.485A>G
c.*1330A>G (n.*1330A>G)
c.*328A>G (n.*328A>G)
c.1821A>G
n.820A>G
n.108A>G
n.841A>G
c.1681A>G (p.Ile561Val)
c.*1127A>G (n.*1127A>G)
c.1717A>G (p.Ile573Val)
n.335A>G
n.553A>G
c.468A>G (n.468A>G)
c.1228A>G (p.Ile410Val)
c.1990A>G (p.Ile664Val)
c.484A>G (p.Ile162Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2070567A>TCA394273003TSC2c.*375A>T (n.*375A>T)
c.1873A>T (p.Ile625Phe)
c.1828A>T (p.Ile610Phe)
c.*1265A>T (n.*1265A>T)
c.*1433A>T (n.*1433A>T)
c.1861A>T (p.Ile621Phe)
c.485A>T
c.*1330A>T (n.*1330A>T)
c.*328A>T (n.*328A>T)
c.1821A>T
n.820A>T
n.108A>T
n.841A>T
c.1681A>T (p.Ile561Phe)
c.*1127A>T (n.*1127A>T)
c.1717A>T (p.Ile573Phe)
n.335A>T
n.553A>T
c.468A>T (n.468A>T)
c.1228A>T (p.Ile410Phe)
c.1990A>T (p.Ile664Phe)
c.484A>T (p.Ile162Phe)
 dbSNP
16g.2070568T>ACA394273004TSC2c.*376T>A (n.*376T>A)
c.1874T>A (p.Ile625Asn)
c.1829T>A (p.Ile610Asn)
c.*1266T>A (n.*1266T>A)
c.*1434T>A (n.*1434T>A)
c.1862T>A (p.Ile621Asn)
c.486T>A
c.*1331T>A (n.*1331T>A)
c.*329T>A (n.*329T>A)
c.1822T>A
n.821T>A
n.109T>A
n.842T>A
c.1682T>A (p.Ile561Asn)
c.*1128T>A (n.*1128T>A)
c.1718T>A (p.Ile573Asn)
n.336T>A
n.554T>A
c.469T>A (n.469T>A)
c.1229T>A (p.Ile410Asn)
c.1991T>A (p.Ile664Asn)
c.485T>A (p.Ile162Asn)
16g.2070568T>CCA394273006TSC2c.*376T>C (n.*376T>C)
c.1874T>C (p.Ile625Thr)
c.1829T>C (p.Ile610Thr)
c.*1266T>C (n.*1266T>C)
c.*1434T>C (n.*1434T>C)
c.1862T>C (p.Ile621Thr)
c.486T>C
c.*1331T>C (n.*1331T>C)
c.*329T>C (n.*329T>C)
c.1822T>C
n.821T>C
n.109T>C
n.842T>C
c.1682T>C (p.Ile561Thr)
c.*1128T>C (n.*1128T>C)
c.1718T>C (p.Ile573Thr)
n.336T>C
n.554T>C
c.469T>C (n.469T>C)
c.1229T>C (p.Ile410Thr)
c.1991T>C (p.Ile664Thr)
c.485T>C (p.Ile162Thr)
 ClinVar dbSNP
16g.2070568T>GCA394273005TSC2c.*376T>G (n.*376T>G)
c.1874T>G (p.Ile625Ser)
c.1829T>G (p.Ile610Ser)
c.*1266T>G (n.*1266T>G)
c.*1434T>G (n.*1434T>G)
c.1862T>G (p.Ile621Ser)
c.486T>G
c.*1331T>G (n.*1331T>G)
c.*329T>G (n.*329T>G)
c.1822T>G
n.821T>G
n.109T>G
n.842T>G
c.1682T>G (p.Ile561Ser)
c.*1128T>G (n.*1128T>G)
c.1718T>G (p.Ile573Ser)
n.336T>G
n.554T>G
c.469T>G (n.469T>G)
c.1229T>G (p.Ile410Ser)
c.1991T>G (p.Ile664Ser)
c.485T>G (p.Ile162Ser)
16g.2070569C>ACA492949949TSC2c.*377C>A (n.*377C>A)
c.1875C>A (p.Ile625=)
c.1830C>A (p.Ile610=)
c.*1267C>A (n.*1267C>A)
c.*1435C>A (n.*1435C>A)
c.1863C>A (p.Ile621=)
c.487C>A
c.*1332C>A (n.*1332C>A)
c.*330C>A (n.*330C>A)
c.1823C>A
n.822C>A
n.110C>A
n.843C>A
c.1683C>A (p.Ile561=)
c.*1129C>A (n.*1129C>A)
c.1719C>A (p.Ile573=)
n.337C>A
n.555C>A
c.470C>A (n.470C>A)
c.1230C>A (p.Ile410=)
c.1992C>A (p.Ile664=)
c.486C>A (p.Ile162=)
 dbSNP
16g.2070569C>GCA394273007TSC2c.*377C>G (n.*377C>G)
c.1875C>G (p.Ile625Met)
c.1830C>G (p.Ile610Met)
c.*1267C>G (n.*1267C>G)
c.*1435C>G (n.*1435C>G)
c.1863C>G (p.Ile621Met)
c.487C>G
c.*1332C>G (n.*1332C>G)
c.*330C>G (n.*330C>G)
c.1823C>G
n.822C>G
n.110C>G
n.843C>G
c.1683C>G (p.Ile561Met)
c.*1129C>G (n.*1129C>G)
c.1719C>G (p.Ile573Met)
n.337C>G
n.555C>G
c.470C>G (n.470C>G)
c.1230C>G (p.Ile410Met)
c.1992C>G (p.Ile664Met)
c.486C>G (p.Ile162Met)
 dbSNP
16g.2070569C>TCA492949946TSC2c.*377C>T (n.*377C>T)
c.1875C>T (p.Ile625=)
c.1830C>T (p.Ile610=)
c.*1267C>T (n.*1267C>T)
c.*1435C>T (n.*1435C>T)
c.1863C>T (p.Ile621=)
c.487C>T
c.*1332C>T (n.*1332C>T)
c.*330C>T (n.*330C>T)
c.1823C>T
n.822C>T
n.110C>T
n.843C>T
c.1683C>T (p.Ile561=)
c.*1129C>T (n.*1129C>T)
c.1719C>T (p.Ile573=)
n.337C>T
n.555C>T
c.470C>T (n.470C>T)
c.1230C>T (p.Ile410=)
c.1992C>T (p.Ile664=)
c.486C>T (p.Ile162=)
 dbSNP
16g.2070569_2070570delinsTTCA645594269TSC2c.*377_*378delinsTT (n.*377_*378delinsTT)
c.1875_1876delinsTT (p.Arg626Trp)
c.1830_1831delinsTT (p.Arg611Trp)
c.*1267_*1268delinsTT (n.*1267_*1268delinsTT)
c.*1435_*1436delinsTT (n.*1435_*1436delinsTT)
c.1863_1864delinsTT (p.Arg622Trp)
c.487_488delinsTT
c.*1332_*1333delinsTT (n.*1332_*1333delinsTT)
c.*330_*331delinsTT (n.*330_*331delinsTT)
c.1823_1824delinsTT
n.822_823delinsTT
n.110_111delinsTT
n.843_844delinsTT
c.1683_1684delinsTT (p.Arg562Trp)
c.*1129_*1130delinsTT (n.*1129_*1130delinsTT)
c.1719_1720delinsTT (p.Arg574Trp)
n.337_338delinsTT
n.555_556delinsTT
c.470_471delinsTT (n.470_471delinsTT)
c.1230_1231delinsTT (p.Arg411Trp)
c.1992_1993delinsTT (p.Arg665Trp)
c.486_487delinsTT (p.Arg163Trp)
 COSMIC
16g.2070570C>ACA492949957TSC2c.*378C>A (n.*378C>A)
c.1876C>A (p.Arg626=)
c.1831C>A (p.Arg611=)
c.*1268C>A (n.*1268C>A)
c.*1436C>A (n.*1436C>A)
c.1864C>A (p.Arg622=)
c.488C>A
c.*1333C>A (n.*1333C>A)
c.*331C>A (n.*331C>A)
c.1824C>A
n.823C>A
n.111C>A
n.844C>A
c.1684C>A (p.Arg562=)
c.*1130C>A (n.*1130C>A)
c.1720C>A (p.Arg574=)
n.338C>A
n.556C>A
c.471C>A (n.471C>A)
c.1231C>A (p.Arg411=)
c.1993C>A (p.Arg665=)
c.487C>A (p.Arg163=)
 ClinVar dbSNP
16g.2070570C=CA2202018181TSC2c.*378C= (n.*378C=)
c.1876C= (p.Arg626=)
c.1831C= (p.Arg611=)
c.*1268C= (n.*1268C=)
c.*1436C= (n.*1436C=)
c.1864C= (p.Arg622=)
c.488C=
c.*1333C= (n.*1333C=)
c.*331C= (n.*331C=)
c.1824C=
n.823C=
n.111C=
n.844C=
c.1684C= (p.Arg562=)
c.*1130C= (n.*1130C=)
c.1720C= (p.Arg574=)
n.338C=
n.556C=
c.471C= (n.471C=)
c.1231C= (p.Arg411=)
c.1993C= (p.Arg665=)
c.487C= (p.Arg163=)
16g.2070570C>GCA015905TSC2c.*378C>G (n.*378C>G)
c.1876C>G (p.Arg626Gly)
c.1831C>G (p.Arg611Gly)
c.*1268C>G (n.*1268C>G)
c.*1436C>G (n.*1436C>G)
c.1864C>G (p.Arg622Gly)
c.488C>G
c.*1333C>G (n.*1333C>G)
c.*331C>G (n.*331C>G)
c.1824C>G
n.823C>G
n.111C>G
n.844C>G
c.1684C>G (p.Arg562Gly)
c.*1130C>G (n.*1130C>G)
c.1720C>G (p.Arg574Gly)
n.338C>G
n.556C>G
c.471C>G (n.471C>G)
c.1231C>G (p.Arg411Gly)
c.1993C>G (p.Arg665Gly)
c.487C>G (p.Arg163Gly)
 ClinVar dbSNP
16g.2070570C>TCA015914TSC2c.*378C>T (n.*378C>T)
c.1876C>T (p.Arg626Trp)
c.1831C>T (p.Arg611Trp)
c.*1268C>T (n.*1268C>T)
c.*1436C>T (n.*1436C>T)
c.1864C>T (p.Arg622Trp)
c.488C>T
c.*1333C>T (n.*1333C>T)
c.*331C>T (n.*331C>T)
c.1824C>T
n.823C>T
n.111C>T
n.844C>T
c.1684C>T (p.Arg562Trp)
c.*1130C>T (n.*1130C>T)
c.1720C>T (p.Arg574Trp)
n.338C>T
n.556C>T
c.471C>T (n.471C>T)
c.1231C>T (p.Arg411Trp)
c.1993C>T (p.Arg665Trp)
c.487C>T (p.Arg163Trp)
 ClinVar dbSNP COSMIC COSMIC
16g.2070571G>ACA015920TSC2c.*379G>A (n.*379G>A)
c.1877G>A (p.Arg626Gln)
c.1832G>A (p.Arg611Gln)
c.*1269G>A (n.*1269G>A)
c.*1437G>A (n.*1437G>A)
c.1865G>A (p.Arg622Gln)
c.489G>A
c.*1334G>A (n.*1334G>A)
c.*332G>A (n.*332G>A)
c.1825G>A
n.824G>A
n.112G>A
n.845G>A
c.1685G>A (p.Arg562Gln)
c.*1131G>A (n.*1131G>A)
c.1721G>A (p.Arg574Gln)
n.339G>A
n.557G>A
c.472G>A (n.472G>A)
c.1232G>A (p.Arg411Gln)
c.1994G>A (p.Arg665Gln)
c.488G>A (p.Arg163Gln)
 ClinVar dbSNP COSMIC
16g.2070571G>CCA394273008TSC2c.*379G>C (n.*379G>C)
c.1877G>C (p.Arg626Pro)
c.1832G>C (p.Arg611Pro)
c.*1269G>C (n.*1269G>C)
c.*1437G>C (n.*1437G>C)
c.1865G>C (p.Arg622Pro)
c.489G>C
c.*1334G>C (n.*1334G>C)
c.*332G>C (n.*332G>C)
c.1825G>C
n.824G>C
n.112G>C
n.845G>C
c.1685G>C (p.Arg562Pro)
c.*1131G>C (n.*1131G>C)
c.1721G>C (p.Arg574Pro)
n.339G>C
n.557G>C
c.472G>C (n.472G>C)
c.1232G>C (p.Arg411Pro)
c.1994G>C (p.Arg665Pro)
c.488G>C (p.Arg163Pro)
16g.2070571G=CA2202018189TSC2c.*379G= (n.*379G=)
c.1877G= (p.Arg626=)
c.1832G= (p.Arg611=)
c.*1269G= (n.*1269G=)
c.*1437G= (n.*1437G=)
c.1865G= (p.Arg622=)
c.489G=
c.*1334G= (n.*1334G=)
c.*332G= (n.*332G=)
c.1825G=
n.824G=
n.112G=
n.845G=
c.1685G= (p.Arg562=)
c.*1131G= (n.*1131G=)
c.1721G= (p.Arg574=)
n.339G=
n.557G=
c.472G= (n.472G=)
c.1232G= (p.Arg411=)
c.1994G= (p.Arg665=)
c.488G= (p.Arg163=)
16g.2070571G>TCA394273009TSC2c.*379G>T (n.*379G>T)
c.1877G>T (p.Arg626Leu)
c.1832G>T (p.Arg611Leu)
c.*1269G>T (n.*1269G>T)
c.*1437G>T (n.*1437G>T)
c.1865G>T (p.Arg622Leu)
c.489G>T
c.*1334G>T (n.*1334G>T)
c.*332G>T (n.*332G>T)
c.1825G>T
n.824G>T
n.112G>T
n.845G>T
c.1685G>T (p.Arg562Leu)
c.*1131G>T (n.*1131G>T)
c.1721G>T (p.Arg574Leu)
n.339G>T
n.557G>T
c.472G>T (n.472G>T)
c.1232G>T (p.Arg411Leu)
c.1994G>T (p.Arg665Leu)
c.488G>T (p.Arg163Leu)
16g.2070571_2070572insTACA620705904TSC2c.*379_*380insTA (n.*379_*380insTA)
c.1877_1878insTA (p.Leu627SerfsTer?)
c.1832_1833insTA (p.Leu612SerfsTer?)
c.*1269_*1270insTA (n.*1269_*1270insTA)
c.*1437_*1438insTA (n.*1437_*1438insTA)
c.1865_1866insTA (p.Leu623SerfsTer?)
c.489_490insTA
c.*1334_*1335insTA (n.*1334_*1335insTA)
c.*332_*333insTA (n.*332_*333insTA)
c.1825_1826insTA
n.824_825insTA
n.112_113insTA
n.845_846insTA
c.1685_1686insTA (p.Leu563SerfsTer?)
c.*1131_*1132insTA (n.*1131_*1132insTA)
c.1721_1722insTA (p.Leu575SerfsTer?)
n.339_340insTA
n.557_558insTA
c.472_473insTA (n.472_473insTA)
c.1232_1233insTA (p.Leu412SerfsTer?)
c.1994_1995insTA (p.Leu666SerfsTer?)
c.488_489insTA (p.Leu164SerfsTer?)
 dbSNP gnomAD v2
16g.2070572G>ACA492949968TSC2c.*380G>A (n.*380G>A)
c.1878G>A (p.Arg626=)
c.1833G>A (p.Arg611=)
c.*1270G>A (n.*1270G>A)
c.*1438G>A (n.*1438G>A)
c.1866G>A (p.Arg622=)
c.490G>A
c.*1335G>A (n.*1335G>A)
c.*333G>A (n.*333G>A)
c.1826G>A
n.825G>A
n.113G>A
n.846G>A
c.1686G>A (p.Arg562=)
c.*1132G>A (n.*1132G>A)
c.1722G>A (p.Arg574=)
n.340G>A
n.558G>A
c.473G>A (n.473G>A)
c.1233G>A (p.Arg411=)
c.1995G>A (p.Arg665=)
c.489G>A (p.Arg163=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2070572G>CCA492949971TSC2c.*380G>C (n.*380G>C)
c.1878G>C (p.Arg626=)
c.1833G>C (p.Arg611=)
c.*1270G>C (n.*1270G>C)
c.*1438G>C (n.*1438G>C)
c.1866G>C (p.Arg622=)
c.490G>C
c.*1335G>C (n.*1335G>C)
c.*333G>C (n.*333G>C)
c.1826G>C
n.825G>C
n.113G>C
n.846G>C
c.1686G>C (p.Arg562=)
c.*1132G>C (n.*1132G>C)
c.1722G>C (p.Arg574=)
n.340G>C
n.558G>C
c.473G>C (n.473G>C)
c.1233G>C (p.Arg411=)
c.1995G>C (p.Arg665=)
c.489G>C (p.Arg163=)
 dbSNP
16g.2070572G=CA2202018194TSC2c.*380G= (n.*380G=)
c.1878G= (p.Arg626=)
c.1833G= (p.Arg611=)
c.*1270G= (n.*1270G=)
c.*1438G= (n.*1438G=)
c.1866G= (p.Arg622=)
c.490G=
c.*1335G= (n.*1335G=)
c.*333G= (n.*333G=)
c.1826G=
n.825G=
n.113G=
n.846G=
c.1686G= (p.Arg562=)
c.*1132G= (n.*1132G=)
c.1722G= (p.Arg574=)
n.340G=
n.558G=
c.473G= (n.473G=)
c.1233G= (p.Arg411=)
c.1995G= (p.Arg665=)
c.489G= (p.Arg163=)
16g.2070572G>TCA492949972TSC2c.*380G>T (n.*380G>T)
c.1878G>T (p.Arg626=)
c.1833G>T (p.Arg611=)
c.*1270G>T (n.*1270G>T)
c.*1438G>T (n.*1438G>T)
c.1866G>T (p.Arg622=)
c.490G>T
c.*1335G>T (n.*1335G>T)
c.*333G>T (n.*333G>T)
c.1826G>T
n.825G>T
n.113G>T
n.846G>T
c.1686G>T (p.Arg562=)
c.*1132G>T (n.*1132G>T)
c.1722G>T (p.Arg574=)
n.340G>T
n.558G>T
c.473G>T (n.473G>T)
c.1233G>T (p.Arg411=)
c.1995G>T (p.Arg665=)
c.489G>T (p.Arg163=)
16g.2070573C>ACA394273010TSC2c.*381C>A (n.*381C>A)
c.1879C>A (p.Leu627Met)
c.1834C>A (p.Leu612Met)
c.*1271C>A (n.*1271C>A)
c.*1439C>A (n.*1439C>A)
c.1867C>A (p.Leu623Met)
c.491C>A
c.*1336C>A (n.*1336C>A)
c.*334C>A (n.*334C>A)
c.1827C>A
n.826C>A
n.114C>A
n.847C>A
c.1687C>A (p.Leu563Met)
c.*1133C>A (n.*1133C>A)
c.1723C>A (p.Leu575Met)
n.341C>A
n.559C>A
c.474C>A (n.474C>A)
c.1234C>A (p.Leu412Met)
c.1996C>A (p.Leu666Met)
c.490C>A (p.Leu164Met)
 dbSNP
16g.2070573C=CA2202018200TSC2c.*381C= (n.*381C=)
c.1879C= (p.Leu627=)
c.1834C= (p.Leu612=)
c.*1271C= (n.*1271C=)
c.*1439C= (n.*1439C=)
c.1867C= (p.Leu623=)
c.491C=
c.*1336C= (n.*1336C=)
c.*334C= (n.*334C=)
c.1827C=
n.826C=
n.114C=
n.847C=
c.1687C= (p.Leu563=)
c.*1133C= (n.*1133C=)
c.1723C= (p.Leu575=)
n.341C=
n.559C=
c.474C= (n.474C=)
c.1234C= (p.Leu412=)
c.1996C= (p.Leu666=)
c.490C= (p.Leu164=)
16g.2070573C>GCA394273011TSC2c.*381C>G (n.*381C>G)
c.1879C>G (p.Leu627Val)
c.1834C>G (p.Leu612Val)
c.*1271C>G (n.*1271C>G)
c.*1439C>G (n.*1439C>G)
c.1867C>G (p.Leu623Val)
c.491C>G
c.*1336C>G (n.*1336C>G)
c.*334C>G (n.*334C>G)
c.1827C>G
n.826C>G
n.114C>G
n.847C>G
c.1687C>G (p.Leu563Val)
c.*1133C>G (n.*1133C>G)
c.1723C>G (p.Leu575Val)
n.341C>G
n.559C>G
c.474C>G (n.474C>G)
c.1234C>G (p.Leu412Val)
c.1996C>G (p.Leu666Val)
c.490C>G (p.Leu164Val)
 ClinVar dbSNP
16g.2070573C>TCA492949975TSC2c.*381C>T (n.*381C>T)
c.1879C>T (p.Leu627=)
c.1834C>T (p.Leu612=)
c.*1271C>T (n.*1271C>T)
c.*1439C>T (n.*1439C>T)
c.1867C>T (p.Leu623=)
c.491C>T
c.*1336C>T (n.*1336C>T)
c.*334C>T (n.*334C>T)
c.1827C>T
n.826C>T
n.114C>T
n.847C>T
c.1687C>T (p.Leu563=)
c.*1133C>T (n.*1133C>T)
c.1723C>T (p.Leu575=)
n.341C>T
n.559C>T
c.474C>T (n.474C>T)
c.1234C>T (p.Leu412=)
c.1996C>T (p.Leu666=)
c.490C>T (p.Leu164=)
 ClinVar dbSNP
16g.2070574T>ACA394273012TSC2c.*382T>A (n.*382T>A)
c.1880T>A (p.Leu627Gln)
c.1835T>A (p.Leu612Gln)
c.*1272T>A (n.*1272T>A)
c.*1440T>A (n.*1440T>A)
c.1868T>A (p.Leu623Gln)
c.492T>A
c.*1337T>A (n.*1337T>A)
c.*335T>A (n.*335T>A)
c.1828T>A
n.827T>A
n.115T>A
n.848T>A
c.1688T>A (p.Leu563Gln)
c.*1134T>A (n.*1134T>A)
c.1724T>A (p.Leu575Gln)
n.342T>A
n.560T>A
c.475T>A (n.475T>A)
c.1235T>A (p.Leu412Gln)
c.1997T>A (p.Leu666Gln)
c.491T>A (p.Leu164Gln)
 dbSNP
16g.2070574T>CCA394273013TSC2c.*382T>C (n.*382T>C)
c.1880T>C (p.Leu627Pro)
c.1835T>C (p.Leu612Pro)
c.*1272T>C (n.*1272T>C)
c.*1440T>C (n.*1440T>C)
c.1868T>C (p.Leu623Pro)
c.492T>C
c.*1337T>C (n.*1337T>C)
c.*335T>C (n.*335T>C)
c.1828T>C
n.827T>C
n.115T>C
n.848T>C
c.1688T>C (p.Leu563Pro)
c.*1134T>C (n.*1134T>C)
c.1724T>C (p.Leu575Pro)
n.342T>C
n.560T>C
c.475T>C (n.475T>C)
c.1235T>C (p.Leu412Pro)
c.1997T>C (p.Leu666Pro)
c.491T>C (p.Leu164Pro)
 ClinVar dbSNP
16g.2070574T>GCA394273014TSC2c.*382T>G (n.*382T>G)
c.1880T>G (p.Leu627Arg)
c.1835T>G (p.Leu612Arg)
c.*1272T>G (n.*1272T>G)
c.*1440T>G (n.*1440T>G)
c.1868T>G (p.Leu623Arg)
c.492T>G
c.*1337T>G (n.*1337T>G)
c.*335T>G (n.*335T>G)
c.1828T>G
n.827T>G
n.115T>G
n.848T>G
c.1688T>G (p.Leu563Arg)
c.*1134T>G (n.*1134T>G)
c.1724T>G (p.Leu575Arg)
n.342T>G
n.560T>G
c.475T>G (n.475T>G)
c.1235T>G (p.Leu412Arg)
c.1997T>G (p.Leu666Arg)
c.491T>G (p.Leu164Arg)
16g.2070574T=CA2202018206TSC2c.*382T= (n.*382T=)
c.1880T= (p.Leu627=)
c.1835T= (p.Leu612=)
c.*1272T= (n.*1272T=)
c.*1440T= (n.*1440T=)
c.1868T= (p.Leu623=)
c.492T=
c.*1337T= (n.*1337T=)
c.*335T= (n.*335T=)
c.1828T=
n.827T=
n.115T=
n.848T=
c.1688T= (p.Leu563=)
c.*1134T= (n.*1134T=)
c.1724T= (p.Leu575=)
n.342T=
n.560T=
c.475T= (n.475T=)
c.1235T= (p.Leu412=)
c.1997T= (p.Leu666=)
c.491T= (p.Leu164=)
16g.2070575G>ACA033742TSC2c.*383G>A (n.*383G>A)
c.1881G>A (p.Leu627=)
c.1836G>A (p.Leu612=)
c.*1273G>A (n.*1273G>A)
c.*1441G>A (n.*1441G>A)
c.1869G>A (p.Leu623=)
c.493G>A
c.*1338G>A (n.*1338G>A)
c.*336G>A (n.*336G>A)
c.1829G>A
n.828G>A
n.116G>A
n.849G>A
c.1689G>A (p.Leu563=)
c.*1135G>A (n.*1135G>A)
c.1725G>A (p.Leu575=)
n.343G>A
n.561G>A
c.476G>A (n.476G>A)
c.1236G>A (p.Leu412=)
c.1998G>A (p.Leu666=)
c.492G>A (p.Leu164=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2070575G>CCA492949977TSC2c.*383G>C (n.*383G>C)
c.1881G>C (p.Leu627=)
c.1836G>C (p.Leu612=)
c.*1273G>C (n.*1273G>C)
c.*1441G>C (n.*1441G>C)
c.1869G>C (p.Leu623=)
c.493G>C
c.*1338G>C (n.*1338G>C)
c.*336G>C (n.*336G>C)
c.1829G>C
n.828G>C
n.116G>C
n.849G>C
c.1689G>C (p.Leu563=)
c.*1135G>C (n.*1135G>C)
c.1725G>C (p.Leu575=)
n.343G>C
n.561G>C
c.476G>C (n.476G>C)
c.1236G>C (p.Leu412=)
c.1998G>C (p.Leu666=)
c.492G>C (p.Leu164=)
 dbSNP
16g.2070575G=CA2202018215TSC2c.*383G= (n.*383G=)
c.1881G= (p.Leu627=)
c.1836G= (p.Leu612=)
c.*1273G= (n.*1273G=)
c.*1441G= (n.*1441G=)
c.1869G= (p.Leu623=)
c.493G=
c.*1338G= (n.*1338G=)
c.*336G= (n.*336G=)
c.1829G=
n.828G=
n.116G=
n.849G=
c.1689G= (p.Leu563=)
c.*1135G= (n.*1135G=)
c.1725G= (p.Leu575=)
n.343G=
n.561G=
c.476G= (n.476G=)
c.1236G= (p.Leu412=)
c.1998G= (p.Leu666=)
c.492G= (p.Leu164=)
16g.2070575G>TCA492949978TSC2c.*383G>T (n.*383G>T)
c.1881G>T (p.Leu627=)
c.1836G>T (p.Leu612=)
c.*1273G>T (n.*1273G>T)
c.*1441G>T (n.*1441G>T)
c.1869G>T (p.Leu623=)
c.493G>T
c.*1338G>T (n.*1338G>T)
c.*336G>T (n.*336G>T)
c.1829G>T
n.828G>T
n.116G>T
n.849G>T
c.1689G>T (p.Leu563=)
c.*1135G>T (n.*1135G>T)
c.1725G>T (p.Leu575=)
n.343G>T
n.561G>T
c.476G>T (n.476G>T)
c.1236G>T (p.Leu412=)
c.1998G>T (p.Leu666=)
c.492G>T (p.Leu164=)
 ClinVar dbSNP
16g.2070576C>ACA394273015TSC2c.*384C>A (n.*384C>A)
c.1882C>A (p.Gln628Lys)
c.1837C>A (p.Gln613Lys)
c.*1274C>A (n.*1274C>A)
c.*1442C>A (n.*1442C>A)
c.1870C>A (p.Gln624Lys)
c.494C>A
c.*1339C>A (n.*1339C>A)
c.*337C>A (n.*337C>A)
c.1830C>A
n.829C>A
n.117C>A
n.850C>A
c.1690C>A (p.Gln564Lys)
c.*1136C>A (n.*1136C>A)
c.1726C>A (p.Gln576Lys)
n.344C>A
n.562C>A
c.477C>A (n.477C>A)
c.1237C>A (p.Gln413Lys)
c.1999C>A (p.Gln667Lys)
c.493C>A (p.Gln165Lys)
 dbSNP
16g.2070576C=CA2202018223TSC2c.*384C= (n.*384C=)
c.1882C= (p.Gln628=)
c.1837C= (p.Gln613=)
c.*1274C= (n.*1274C=)
c.*1442C= (n.*1442C=)
c.1870C= (p.Gln624=)
c.494C=
c.*1339C= (n.*1339C=)
c.*337C= (n.*337C=)
c.1830C=
n.829C=
n.117C=
n.850C=
c.1690C= (p.Gln564=)
c.*1136C= (n.*1136C=)
c.1726C= (p.Gln576=)
n.344C=
n.562C=
c.477C= (n.477C=)
c.1237C= (p.Gln413=)
c.1999C= (p.Gln667=)
c.493C= (p.Gln165=)
16g.2070576C>GCA394273016TSC2c.*384C>G (n.*384C>G)
c.1882C>G (p.Gln628Glu)
c.1837C>G (p.Gln613Glu)
c.*1274C>G (n.*1274C>G)
c.*1442C>G (n.*1442C>G)
c.1870C>G (p.Gln624Glu)
c.494C>G
c.*1339C>G (n.*1339C>G)
c.*337C>G (n.*337C>G)
c.1830C>G
n.829C>G
n.117C>G
n.850C>G
c.1690C>G (p.Gln564Glu)
c.*1136C>G (n.*1136C>G)
c.1726C>G (p.Gln576Glu)
n.344C>G
n.562C>G
c.477C>G (n.477C>G)
c.1237C>G (p.Gln413Glu)
c.1999C>G (p.Gln667Glu)
c.493C>G (p.Gln165Glu)
 dbSNP
16g.2070576C>TCA015927TSC2c.*384C>T (n.*384C>T)
c.1882C>T (p.Gln628Ter)
c.1837C>T (p.Gln613Ter)
c.*1274C>T (n.*1274C>T)
c.*1442C>T (n.*1442C>T)
c.1870C>T (p.Gln624Ter)
c.494C>T
c.*1339C>T (n.*1339C>T)
c.*337C>T (n.*337C>T)
c.1830C>T
n.829C>T
n.117C>T
n.850C>T
c.1690C>T (p.Gln564Ter)
c.*1136C>T (n.*1136C>T)
c.1726C>T (p.Gln576Ter)
n.344C>T
n.562C>T
c.477C>T (n.477C>T)
c.1237C>T (p.Gln413Ter)
c.1999C>T (p.Gln667Ter)
c.493C>T (p.Gln165Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
16g.2070577A>CCA394273019TSC2c.*385A>C (n.*385A>C)
c.1883A>C (p.Gln628Pro)
c.1838A>C (p.Gln613Pro)
c.*1275A>C (n.*1275A>C)
c.*1443A>C (n.*1443A>C)
c.1871A>C (p.Gln624Pro)
c.495A>C
c.*1340A>C (n.*1340A>C)
c.*338A>C (n.*338A>C)
c.1831A>C
n.830A>C
n.118A>C
n.851A>C
c.1691A>C (p.Gln564Pro)
c.*1137A>C (n.*1137A>C)
c.1727A>C (p.Gln576Pro)
n.345A>C
n.563A>C
c.478A>C (n.478A>C)
c.1238A>C (p.Gln413Pro)
c.2000A>C (p.Gln667Pro)
c.494A>C (p.Gln165Pro)
16g.2070577A>GCA394273018TSC2c.*385A>G (n.*385A>G)
c.1883A>G (p.Gln628Arg)
c.1838A>G (p.Gln613Arg)
c.*1275A>G (n.*1275A>G)
c.*1443A>G (n.*1443A>G)
c.1871A>G (p.Gln624Arg)
c.495A>G
c.*1340A>G (n.*1340A>G)
c.*338A>G (n.*338A>G)
c.1831A>G
n.830A>G
n.118A>G
n.851A>G
c.1691A>G (p.Gln564Arg)
c.*1137A>G (n.*1137A>G)
c.1727A>G (p.Gln576Arg)
n.345A>G
n.563A>G
c.478A>G (n.478A>G)
c.1238A>G (p.Gln413Arg)
c.2000A>G (p.Gln667Arg)
c.494A>G (p.Gln165Arg)
 ClinVar dbSNP gnomAD v4
16g.2070577A>TCA394273017TSC2c.*385A>T (n.*385A>T)
c.1883A>T (p.Gln628Leu)
c.1838A>T (p.Gln613Leu)
c.*1275A>T (n.*1275A>T)
c.*1443A>T (n.*1443A>T)
c.1871A>T (p.Gln624Leu)
c.495A>T
c.*1340A>T (n.*1340A>T)
c.*338A>T (n.*338A>T)
c.1831A>T
n.830A>T
n.118A>T
n.851A>T
c.1691A>T (p.Gln564Leu)
c.*1137A>T (n.*1137A>T)
c.1727A>T (p.Gln576Leu)
n.345A>T
n.563A>T
c.478A>T (n.478A>T)
c.1238A>T (p.Gln413Leu)
c.2000A>T (p.Gln667Leu)
c.494A>T (p.Gln165Leu)
 dbSNP

Number of alleles fetched