Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.134110884C>G | CA1583918283 | VDAC1 | c.-175+2718G>C (n.-175+2718G>C) | dbSNP |
5 | g.134110884C>T | CA12106415 | VDAC1 | c.-175+2718G>A (n.-175+2718G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.134110884C= | CA1583918282 | VDAC1 | c.-175+2718G= (n.-175+2718G=) | dbSNP |