| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.47800996C>T | CA011340 | FBXO11,MSH6 | c.2716C>T (p.Arg906Ter) c.3013C>T (p.Arg1005Ter) n.3097C>T c.1606+1407C>T (n.1606+1407C>T) c.3019C>T (p.Arg1007Ter) c.628-2424C>T (n.628-2424C>T) c.2170C>T (p.Arg724Ter) c.2623C>T (p.Arg875Ter) c.169+7199G>A (n.169+7199G>A) c.*124+6998G>A (n.*124+6998G>A) c.*2360C>T (n.*2360C>T) c.2107C>T (p.Arg703Ter) c.3010C>T (p.Arg1004Ter) c.-84C>T (n.-84C>T) c.2830C>T (p.Arg944Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.47800996C>A | CA426121667 | FBXO11,MSH6 | c.2716C>A (p.Arg906=) c.3013C>A (p.Arg1005=) n.3097C>A c.1606+1407C>A (n.1606+1407C>A) c.3019C>A (p.Arg1007=) c.628-2424C>A (n.628-2424C>A) c.2170C>A (p.Arg724=) c.2623C>A (p.Arg875=) c.169+7199G>T (n.169+7199G>T) c.*124+6998G>T (n.*124+6998G>T) c.*2360C>A (n.*2360C>A) c.2107C>A (p.Arg703=) c.3010C>A (p.Arg1004=) c.-84C>A (n.-84C>A) c.2830C>A (p.Arg944=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.47800996C>G | CA346756424 | FBXO11,MSH6 | c.2716C>G (p.Arg906Gly) c.3013C>G (p.Arg1005Gly) n.3097C>G c.1606+1407C>G (n.1606+1407C>G) c.3019C>G (p.Arg1007Gly) c.628-2424C>G (n.628-2424C>G) c.2170C>G (p.Arg724Gly) c.2623C>G (p.Arg875Gly) c.169+7199G>C (n.169+7199G>C) c.*124+6998G>C (n.*124+6998G>C) c.*2360C>G (n.*2360C>G) c.2107C>G (p.Arg703Gly) c.3010C>G (p.Arg1004Gly) c.-84C>G (n.-84C>G) c.2830C>G (p.Arg944Gly) | dbSNP |