Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47799427C>A | CA008608 | FBXO11,MSH6 | c.1147C>A (p.Arg383=) c.1444C>A (p.Arg482=) n.1528C>A c.1450C>A (p.Arg484=) c.627+3364C>A (n.627+3364C>A) c.601C>A (p.Arg201=) c.1054C>A (p.Arg352=) c.169+8768G>T (n.169+8768G>T) c.*124+8567G>T (n.*124+8567G>T) c.*791C>A (n.*791C>A) c.538C>A (p.Arg180=) c.1441C>A (p.Arg481=) c.-1653C>A (n.-1653C>A) c.1261C>A (p.Arg421=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.47799427C>T | CA008614 | FBXO11,MSH6 | c.1147C>T (p.Arg383Ter) c.1444C>T (p.Arg482Ter) n.1528C>T c.1450C>T (p.Arg484Ter) c.627+3364C>T (n.627+3364C>T) c.601C>T (p.Arg201Ter) c.1054C>T (p.Arg352Ter) c.169+8768G>A (n.169+8768G>A) c.*124+8567G>A (n.*124+8567G>A) c.*791C>T (n.*791C>T) c.538C>T (p.Arg180Ter) c.1441C>T (p.Arg481Ter) c.-1653C>T (n.-1653C>T) c.1261C>T (p.Arg421Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.47799427C>G | CA16617652 | FBXO11,MSH6 | c.1147C>G (p.Arg383Gly) c.1444C>G (p.Arg482Gly) n.1528C>G c.1450C>G (p.Arg484Gly) c.627+3364C>G (n.627+3364C>G) c.601C>G (p.Arg201Gly) c.1054C>G (p.Arg352Gly) c.169+8768G>C (n.169+8768G>C) c.*124+8567G>C (n.*124+8567G>C) c.*791C>G (n.*791C>G) c.538C>G (p.Arg180Gly) c.1441C>G (p.Arg481Gly) c.-1653C>G (n.-1653C>G) c.1261C>G (p.Arg421Gly) | ClinVar dbSNP |