Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47801125C>G | CA070092 | FBXO11,MSH6 | c.2845C>G (p.Gln949Glu) c.3142C>G (p.Gln1048Glu) n.3226C>G c.1606+1536C>G (n.1606+1536C>G) c.3148C>G (p.Gln1050Glu) c.628-2295C>G (n.628-2295C>G) c.2299C>G (p.Gln767Glu) c.2752C>G (p.Gln918Glu) c.169+7070G>C (n.169+7070G>C) c.*124+6869G>C (n.*124+6869G>C) c.*2489C>G (n.*2489C>G) c.2236C>G (p.Gln746Glu) c.3139C>G (p.Gln1047Glu) c.46C>G (p.Gln16Glu) c.2959C>G (p.Gln987Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47801125C>A | CA346756692 | FBXO11,MSH6 | c.2845C>A (p.Gln949Lys) c.3142C>A (p.Gln1048Lys) n.3226C>A c.1606+1536C>A (n.1606+1536C>A) c.3148C>A (p.Gln1050Lys) c.628-2295C>A (n.628-2295C>A) c.2299C>A (p.Gln767Lys) c.2752C>A (p.Gln918Lys) c.169+7070G>T (n.169+7070G>T) c.*124+6869G>T (n.*124+6869G>T) c.*2489C>A (n.*2489C>A) c.2236C>A (p.Gln746Lys) c.3139C>A (p.Gln1047Lys) c.46C>A (p.Gln16Lys) c.2959C>A (p.Gln987Lys) | dbSNP |
2 | g.47801125C>T | CA011628 | FBXO11,MSH6 | c.2845C>T (p.Gln949Ter) c.3142C>T (p.Gln1048Ter) n.3226C>T c.1606+1536C>T (n.1606+1536C>T) c.3148C>T (p.Gln1050Ter) c.628-2295C>T (n.628-2295C>T) c.2299C>T (p.Gln767Ter) c.2752C>T (p.Gln918Ter) c.169+7070G>A (n.169+7070G>A) c.*124+6869G>A (n.*124+6869G>A) c.*2489C>T (n.*2489C>T) c.2236C>T (p.Gln746Ter) c.3139C>T (p.Gln1047Ter) c.46C>T (p.Gln16Ter) c.2959C>T (p.Gln987Ter) | ClinVar dbSNP |