Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47800798C>A | CA346755641 | FBXO11,MSH6 | c.2518C>A (p.Gln840Lys) c.2815C>A (p.Gln939Lys) n.2899C>A c.1606+1209C>A (n.1606+1209C>A) c.2821C>A (p.Gln941Lys) c.628-2622C>A (n.628-2622C>A) c.1972C>A (p.Gln658Lys) c.2425C>A (p.Gln809Lys) c.169+7397G>T (n.169+7397G>T) c.*124+7196G>T (n.*124+7196G>T) c.*2162C>A (n.*2162C>A) c.1909C>A (p.Gln637Lys) c.2812C>A (p.Gln938Lys) c.-282C>A (n.-282C>A) c.2632C>A (p.Gln878Lys) | dbSNP |
2 | g.47800798C>G | CA346755643 | FBXO11,MSH6 | c.2518C>G (p.Gln840Glu) c.2815C>G (p.Gln939Glu) n.2899C>G c.1606+1209C>G (n.1606+1209C>G) c.2821C>G (p.Gln941Glu) c.628-2622C>G (n.628-2622C>G) c.1972C>G (p.Gln658Glu) c.2425C>G (p.Gln809Glu) c.169+7397G>C (n.169+7397G>C) c.*124+7196G>C (n.*124+7196G>C) c.*2162C>G (n.*2162C>G) c.1909C>G (p.Gln637Glu) c.2812C>G (p.Gln938Glu) c.-282C>G (n.-282C>G) c.2632C>G (p.Gln878Glu) | ClinVar dbSNP |
2 | g.47800798C>T | CA010943 | FBXO11,MSH6 | c.2518C>T (p.Gln840Ter) c.2815C>T (p.Gln939Ter) n.2899C>T c.1606+1209C>T (n.1606+1209C>T) c.2821C>T (p.Gln941Ter) c.628-2622C>T (n.628-2622C>T) c.1972C>T (p.Gln658Ter) c.2425C>T (p.Gln809Ter) c.169+7397G>A (n.169+7397G>A) c.*124+7196G>A (n.*124+7196G>A) c.*2162C>T (n.*2162C>T) c.1909C>T (p.Gln637Ter) c.2812C>T (p.Gln938Ter) c.-282C>T (n.-282C>T) c.2632C>T (p.Gln878Ter) | ClinVar dbSNP COSMIC |