| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41672445C>A | CA114336 | ANK1 | c.5128G>T (p.Glu1710Ter) c.5224G>T (p.Glu1742Ter) c.5041G>T (p.Glu1681Ter) c.5005G>T (p.Glu1669Ter) c.1038-19G>T c.577G>T c.2502-19G>T n.2418-19G>T c.4538-19G>T (n.4538-19G>T) c.5125G>T (p.Glu1709Ter) c.5104G>T (p.Glu1702Ter) c.4757-19G>T (n.4757-19G>T) c.4637-19G>T (n.4637-19G>T) c.4920+304G>T (n.4920+304G>T) n.4860G>T c.5200G>T (p.Glu1734Ter) c.5137G>T (p.Glu1713Ter) c.4661-19G>T (n.4661-19G>T) c.5029G>T (p.Glu1677Ter) | ClinVar dbSNP |
| 8 | g.41672445C>G | CA371053589 | ANK1 | c.5128G>C (p.Glu1710Gln) c.5224G>C (p.Glu1742Gln) c.5041G>C (p.Glu1681Gln) c.5005G>C (p.Glu1669Gln) c.1038-19G>C c.577G>C c.2502-19G>C n.2418-19G>C c.4538-19G>C (n.4538-19G>C) c.5125G>C (p.Glu1709Gln) c.5104G>C (p.Glu1702Gln) c.4757-19G>C (n.4757-19G>C) c.4637-19G>C (n.4637-19G>C) c.4920+304G>C (n.4920+304G>C) n.4860G>C c.5200G>C (p.Glu1734Gln) c.5137G>C (p.Glu1713Gln) c.4661-19G>C (n.4661-19G>C) c.5029G>C (p.Glu1677Gln) | dbSNP |
| 8 | g.41672445C>T | CA371053590 | ANK1 | c.5128G>A (p.Glu1710Lys) c.5224G>A (p.Glu1742Lys) c.5041G>A (p.Glu1681Lys) c.5005G>A (p.Glu1669Lys) c.1038-19G>A c.577G>A c.2502-19G>A n.2418-19G>A c.4538-19G>A (n.4538-19G>A) c.5125G>A (p.Glu1709Lys) c.5104G>A (p.Glu1702Lys) c.4757-19G>A (n.4757-19G>A) c.4637-19G>A (n.4637-19G>A) c.4920+304G>A (n.4920+304G>A) n.4860G>A c.5200G>A (p.Glu1734Lys) c.5137G>A (p.Glu1713Lys) c.4661-19G>A (n.4661-19G>A) c.5029G>A (p.Glu1677Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |