| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43065208A>G | CA2173011249 | UBR1 | c.798+2690T>C (n.798+2690T>C) c.*202+5691T>C (n.*202+5691T>C) | dbSNP |
| 15 | g.43065208A>C | CA14078549 | UBR1 | c.798+2690T>G (n.798+2690T>G) c.*202+5691T>G (n.*202+5691T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43065208A>T | CA712968323 | UBR1 | c.798+2690T>A (n.798+2690T>A) c.*202+5691T>A (n.*202+5691T>A) | dbSNP |