Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2088236C>TCA022073TSC2c.*3519C>T (n.*3519C>T)
c.5017C>T (p.Gln1673Ter)
c.5167C>T (p.Gln1723Ter)
c.*5683C>T (n.*5683C>T)
c.*7919C>T (n.*7919C>T)
c.5170C>T (p.Gln1724Ter)
c.5101C>T (p.Gln1701Ter)
c.4969C>T (p.Gln1657Ter)
c.5002C>T (p.Gln1668Ter)
c.1393C>T
n.3052C>T
c.3824C>T
c.5032-3C>T (n.5032-3C>T)
n.767C>T
c.4972C>T (p.Gln1658Ter)
c.5038C>T (p.Gln1680Ter)
c.4963C>T (p.Gln1655Ter)
n.2818C>T
c.5095C>T (p.Gln1699Ter)
c.5041C>T (p.Gln1681Ter)
c.5056C>T (p.Gln1686Ter)
c.4966C>T (p.Gln1656Ter)
c.5091C>T
n.3254C>T
c.5164C>T (p.Gln1722Ter)
n.3985C>T
n.2422C>T
n.2393C>T
n.2283C>T
c.4825C>T (p.Gln1609Ter)
c.*4337C>T (n.*4337C>T)
c.4861C>T (p.Gln1621Ter)
n.2893C>T
c.1352C>T
n.2285C>T
c.5224C>T (p.Gln1742Ter)
c.5221C>T (p.Gln1741Ter)
c.5113C>T (p.Gln1705Ter)
c.5092C>T (p.Gln1698Ter)
c.4438C>T (p.Gln1480Ter)
c.5386C>T (p.Gln1796Ter)
c.5134C>T (p.Gln1712Ter)
c.3880C>T (p.Gln1294Ter)
 ClinVar dbSNP gnomAD v4
16g.2088236C>GCA394313923TSC2c.*3519C>G (n.*3519C>G)
c.5017C>G (p.Gln1673Glu)
c.5167C>G (p.Gln1723Glu)
c.*5683C>G (n.*5683C>G)
c.*7919C>G (n.*7919C>G)
c.5170C>G (p.Gln1724Glu)
c.5101C>G (p.Gln1701Glu)
c.4969C>G (p.Gln1657Glu)
c.5002C>G (p.Gln1668Glu)
c.1393C>G
n.3052C>G
c.3824C>G
c.5032-3C>G (n.5032-3C>G)
n.767C>G
c.4972C>G (p.Gln1658Glu)
c.5038C>G (p.Gln1680Glu)
c.4963C>G (p.Gln1655Glu)
n.2818C>G
c.5095C>G (p.Gln1699Glu)
c.5041C>G (p.Gln1681Glu)
c.5056C>G (p.Gln1686Glu)
c.4966C>G (p.Gln1656Glu)
c.5091C>G
n.3254C>G
c.5164C>G (p.Gln1722Glu)
n.3985C>G
n.2422C>G
n.2393C>G
n.2283C>G
c.4825C>G (p.Gln1609Glu)
c.*4337C>G (n.*4337C>G)
c.4861C>G (p.Gln1621Glu)
n.2893C>G
c.1352C>G
n.2285C>G
c.5224C>G (p.Gln1742Glu)
c.5221C>G (p.Gln1741Glu)
c.5113C>G (p.Gln1705Glu)
c.5092C>G (p.Gln1698Glu)
c.4438C>G (p.Gln1480Glu)
c.5386C>G (p.Gln1796Glu)
c.5134C>G (p.Gln1712Glu)
c.3880C>G (p.Gln1294Glu)
 ClinVar dbSNP
16g.2088236C>ACA394313908TSC2c.*3519C>A (n.*3519C>A)
c.5017C>A (p.Gln1673Lys)
c.5167C>A (p.Gln1723Lys)
c.*5683C>A (n.*5683C>A)
c.*7919C>A (n.*7919C>A)
c.5170C>A (p.Gln1724Lys)
c.5101C>A (p.Gln1701Lys)
c.4969C>A (p.Gln1657Lys)
c.5002C>A (p.Gln1668Lys)
c.1393C>A
n.3052C>A
c.3824C>A
c.5032-3C>A (n.5032-3C>A)
n.767C>A
c.4972C>A (p.Gln1658Lys)
c.5038C>A (p.Gln1680Lys)
c.4963C>A (p.Gln1655Lys)
n.2818C>A
c.5095C>A (p.Gln1699Lys)
c.5041C>A (p.Gln1681Lys)
c.5056C>A (p.Gln1686Lys)
c.4966C>A (p.Gln1656Lys)
c.5091C>A
n.3254C>A
c.5164C>A (p.Gln1722Lys)
n.3985C>A
n.2422C>A
n.2393C>A
n.2283C>A
c.4825C>A (p.Gln1609Lys)
c.*4337C>A (n.*4337C>A)
c.4861C>A (p.Gln1621Lys)
n.2893C>A
c.1352C>A
n.2285C>A
c.5224C>A (p.Gln1742Lys)
c.5221C>A (p.Gln1741Lys)
c.5113C>A (p.Gln1705Lys)
c.5092C>A (p.Gln1698Lys)
c.4438C>A (p.Gln1480Lys)
c.5386C>A (p.Gln1796Lys)
c.5134C>A (p.Gln1712Lys)
c.3880C>A (p.Gln1294Lys)
 ClinVar dbSNP

Number of alleles fetched