Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.18269920G>C | CA1348867122 | TBC1D5 | n.211+174687C>G | dbSNP |
3 | g.18269920G>A | CA11580158 | TBC1D5 | n.211+174687C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.18269920G= | CA1348867121 | TBC1D5 | n.211+174687C= | dbSNP |