Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.49735214A>G | CA11499594 | IP6K1 | c.435-2242T>C (n.435-2242T>C) c.-61-2242T>C (n.-61-2242T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.49735214A= | CA1363627680 | IP6K1 | c.435-2242T= (n.435-2242T=) c.-61-2242T= (n.-61-2242T=) | dbSNP |