| X | g.85956175C>A | CA236357 | CHM | c.1144G>T (p.Glu382Ter)
n.126+71316G>T
c.1081G>T (p.Glu361Ter)
c.700G>T (p.Glu234Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.85956175C= | CA2442478013 | CHM | c.1144G= (p.Glu382=)
n.126+71316G=
c.1081G= (p.Glu361=)
c.700G= (p.Glu234=)
| dbSNP |
