Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.132906785dupCA658657920TSC1c.1385dup (p.Leu462PhefsTer3)
c.1388dup (p.Leu463PhefsTer3)
c.1001dup (p.Leu334PhefsTer3)
c.1025dup (p.Leu342PhefsTer3)
c.1232dup (p.Leu411PhefsTer3)
c.*1129dup (n.*1129dup)
c.*1158dup (n.*1158dup)
c.1235dup (p.Leu412PhefsTer3)
c.125dup (p.Leu42PhefsTer3)
c.*1155dup (n.*1155dup)
n.1763dup
n.2239dup
c.*627dup (n.*627dup)
n.2264dup
n.452dup
c.1022dup (p.Leu341PhefsTer3)
ClinVar dbSNP gnomAD v4
9g.132906785delCA16618772TSC1c.1385del (p.Leu462Ter)
c.1388del (p.Leu463Ter)
c.1001del (p.Leu334Ter)
c.1025del (p.Leu342Ter)
c.1232del (p.Leu411Ter)
c.*1129del (n.*1129del)
c.*1158del (n.*1158del)
c.1235del (p.Leu412Ter)
c.125del (p.Leu42Ter)
c.*1155del (n.*1155del)
n.1763del
n.2239del
c.*627del (n.*627del)
n.2264del
n.452del
c.1022del (p.Leu341Ter)
ClinVar dbSNP

Number of alleles fetched