Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.75565017C>T | CA11118667 | EVA1A | c.-192+4459G>A (n.-192+4459G>A) n.223+4459G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.75565017C= | CA1261943453 | EVA1A | c.-192+4459G= (n.-192+4459G=) n.223+4459G= | dbSNP |