| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43006514C>A | CA3811765 | MEA1,PPP2R5D | c.157C>A (p.Pro53Thr) c.174C>A (p.His58Gln) c.28-420C>A (n.28-420C>A) c.133C>A (p.Pro45Thr) c.-297C>A (n.-297C>A) c.367+6412G>T (n.367+6412G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.43006514C>T | CA355020 | MEA1,PPP2R5D | c.157C>T (p.Pro53Ser) c.174C>T (p.His58=) c.28-420C>T (n.28-420C>T) c.133C>T (p.Pro45Ser) c.-297C>T (n.-297C>T) c.367+6412G>A (n.367+6412G>A) | ClinVar dbSNP |
| 6 | g.43006514C= | CA1624304459 | MEA1,PPP2R5D | c.157C= (p.Pro53=) c.174C= (p.His58=) c.28-420C= (n.28-420C=) c.133C= (p.Pro45=) c.-297C= (n.-297C=) c.367+6412G= (n.367+6412G=) | dbSNP |
| 6 | g.43006514C>G | CA364179035 | MEA1,PPP2R5D | c.157C>G (p.Pro53Ala) c.174C>G (p.His58Gln) c.28-420C>G (n.28-420C>G) c.133C>G (p.Pro45Ala) c.-297C>G (n.-297C>G) c.367+6412G>C (n.367+6412G>C) | dbSNP gnomAD v4 |