Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2086818G>TCA394308723TSC2c.*3285G>T (n.*3285G>T)
c.4783G>T (p.Val1595Leu)
c.4933G>T (p.Val1645Leu)
c.*5449G>T (n.*5449G>T)
c.*7685G>T (n.*7685G>T)
c.4936G>T (p.Val1646Leu)
c.4867G>T (p.Val1623Leu)
c.4735G>T (p.Val1579Leu)
c.4768G>T (p.Val1590Leu)
c.1159G>T
n.2818G>T
c.3590G>T
c.4807G>T (p.Val1603Leu)
n.1118G>T
n.533G>T
c.4738G>T (p.Val1580Leu)
c.4804G>T (p.Val1602Leu)
c.4729G>T (p.Val1577Leu)
n.950G>T
n.2584G>T
c.4861G>T (p.Val1621Leu)
n.418G>T
c.4732G>T (p.Val1578Leu)
c.4857G>T
n.3020G>T
c.4930G>T (p.Val1644Leu)
n.97G>T
n.3751G>T
n.2188G>T
n.2159G>T
n.2049G>T
c.4591G>T (p.Val1531Leu)
c.*4103G>T (n.*4103G>T)
c.4627G>T (p.Val1543Leu)
n.2659G>T
c.1118G>T
n.2051G>T
c.4990G>T (p.Val1664Leu)
c.4987G>T (p.Val1663Leu)
c.4879G>T (p.Val1627Leu)
c.4858G>T (p.Val1620Leu)
c.4204G>T (p.Val1402Leu)
c.5152G>T (p.Val1718Leu)
c.4900G>T (p.Val1634Leu)
c.3646G>T (p.Val1216Leu)
 ClinVar dbSNP COSMIC COSMIC
16g.2086818G>CCA394308719TSC2c.*3285G>C (n.*3285G>C)
c.4783G>C (p.Val1595Leu)
c.4933G>C (p.Val1645Leu)
c.*5449G>C (n.*5449G>C)
c.*7685G>C (n.*7685G>C)
c.4936G>C (p.Val1646Leu)
c.4867G>C (p.Val1623Leu)
c.4735G>C (p.Val1579Leu)
c.4768G>C (p.Val1590Leu)
c.1159G>C
n.2818G>C
c.3590G>C
c.4807G>C (p.Val1603Leu)
n.1118G>C
n.533G>C
c.4738G>C (p.Val1580Leu)
c.4804G>C (p.Val1602Leu)
c.4729G>C (p.Val1577Leu)
n.950G>C
n.2584G>C
c.4861G>C (p.Val1621Leu)
n.418G>C
c.4732G>C (p.Val1578Leu)
c.4857G>C
n.3020G>C
c.4930G>C (p.Val1644Leu)
n.97G>C
n.3751G>C
n.2188G>C
n.2159G>C
n.2049G>C
c.4591G>C (p.Val1531Leu)
c.*4103G>C (n.*4103G>C)
c.4627G>C (p.Val1543Leu)
n.2659G>C
c.1118G>C
n.2051G>C
c.4990G>C (p.Val1664Leu)
c.4987G>C (p.Val1663Leu)
c.4879G>C (p.Val1627Leu)
c.4858G>C (p.Val1620Leu)
c.4204G>C (p.Val1402Leu)
c.5152G>C (p.Val1718Leu)
c.4900G>C (p.Val1634Leu)
c.3646G>C (p.Val1216Leu)
 ClinVar dbSNP
16g.2086818G>ACA16620103TSC2c.*3285G>A (n.*3285G>A)
c.4783G>A (p.Val1595Met)
c.4933G>A (p.Val1645Met)
c.*5449G>A (n.*5449G>A)
c.*7685G>A (n.*7685G>A)
c.4936G>A (p.Val1646Met)
c.4867G>A (p.Val1623Met)
c.4735G>A (p.Val1579Met)
c.4768G>A (p.Val1590Met)
c.1159G>A
n.2818G>A
c.3590G>A
c.4807G>A (p.Val1603Met)
n.1118G>A
n.533G>A
c.4738G>A (p.Val1580Met)
c.4804G>A (p.Val1602Met)
c.4729G>A (p.Val1577Met)
n.950G>A
n.2584G>A
c.4861G>A (p.Val1621Met)
n.418G>A
c.4732G>A (p.Val1578Met)
c.4857G>A
n.3020G>A
c.4930G>A (p.Val1644Met)
n.97G>A
n.3751G>A
n.2188G>A
n.2159G>A
n.2049G>A
c.4591G>A (p.Val1531Met)
c.*4103G>A (n.*4103G>A)
c.4627G>A (p.Val1543Met)
n.2659G>A
c.1118G>A
n.2051G>A
c.4990G>A (p.Val1664Met)
c.4987G>A (p.Val1663Met)
c.4879G>A (p.Val1627Met)
c.4858G>A (p.Val1620Met)
c.4204G>A (p.Val1402Met)
c.5152G>A (p.Val1718Met)
c.4900G>A (p.Val1634Met)
c.3646G>A (p.Val1216Met)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched