Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.100388363_100388364dup | CA1650583005 | SIM1 | c.*2003_*2004dup (n.*2003_*2004dup) | dbSNP gnomAD v4 |
6 | g.100388364dup | CA144529979 | SIM1 | c.*2004dup (n.*2004dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.100388364del | CA816234359 | SIM1 | c.*2004del (n.*2004del) | dbSNP gnomAD v3 gnomAD v4 |