| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.102930120_102930134del | CA144400 | AMN | c.1006+34_1007-31del (n.1006+34_1007-31del) n.1752+34_1753-31del n.969+34_970-31del n.14_28del c.127-45_127-31del c.844+34_845-31del (n.844+34_845-31del) c.1102+34_1103-31del (n.1102+34_1103-31del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.102930134_102930135insCCTCGCCCCGCCGCGCCTCGCCCCGCCGCGCCTCGCCCCGCCGCG | CA2730235740 | AMN | c.1007-31_1007-30insCCTCGCCCCGCCGCGCCTCGCCCCGCCGCGCCTCGCCCCGCCGCG (n.1007-31_1007-30insCCTCGCCCCGCCGCGCCTCGCCCCGCCGCGCCTCGCCCCGCCGCG) n.1753-31_1753-30insCCTCGCCCCGCCGCGCCTCGCCCCGCCGCGCCTCGCCCCGCCGCG n.970-31_970-30insCCTCGCCCCGCCGCGCCTCGCCCCGCCGCGCCTCGCCCCGCCGCG n.28_29insCCTCGCCCCGCCGCGCCTCGCCCCGCCGCGCCTCGCCCCGCCGCG c.127-31_127-30insCCTCGCCCCGCCGCGCCTCGCCCCGCCGCGCCTCGCCCCGCCGCG c.845-31_845-30insCCTCGCCCCGCCGCGCCTCGCCCCGCCGCGCCTCGCCCCGCCGCG (n.845-31_845-30insCCTCGCCCCGCCGCGCCTCGCCCCGCCGCGCCTCGCCCCGCCGCG) c.1103-31_1103-30insCCTCGCCCCGCCGCGCCTCGCCCCGCCGCGCCTCGCCCCGCCGCG (n.1103-31_1103-30insCCTCGCCCCGCCGCGCCTCGCCCCGCCGCGCCTCGCCCCGCCGCG) | dbSNP |