| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.27971997G>C | CA2292147024 | CDH2 | c.2350-8476C>G (n.2350-8476C>G) c.2095-8476C>G (n.2095-8476C>G) c.987-8476C>G c.302-8476C>G c.2095-6015C>G (n.2095-6015C>G) n.2081-8476C>G c.2257-8476C>G (n.2257-8476C>G) c.2296-8476C>G (n.2296-8476C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.27971997G>A | CA14512864 | CDH2 | c.2350-8476C>T (n.2350-8476C>T) c.2095-8476C>T (n.2095-8476C>T) c.987-8476C>T c.302-8476C>T c.2095-6015C>T (n.2095-6015C>T) n.2081-8476C>T c.2257-8476C>T (n.2257-8476C>T) c.2296-8476C>T (n.2296-8476C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.27971997G= | CA2292147023 | CDH2 | c.2350-8476C= (n.2350-8476C=) c.2095-8476C= (n.2095-8476C=) c.987-8476C= c.302-8476C= c.2095-6015C= (n.2095-6015C=) n.2081-8476C= c.2257-8476C= (n.2257-8476C=) c.2296-8476C= (n.2296-8476C=) | dbSNP |