| 2 | g.232480203A>G | CA150590 | ECEL1 | c.2278T>C (p.Cys760Arg)
c.2272T>C (p.Cys758Arg)
c.457T>C (p.Cys153Arg)
n.2589T>C
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232480203A= | CA1335286943 | ECEL1 | c.2278T= (p.Cys760=)
c.2272T= (p.Cys758=)
c.457T= (p.Cys153=)
n.2589T=
| dbSNP |
