Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.139379813C>G | CA361140004 | SLC23A1 | c.790G>C (p.Val264Leu) c.802G>C (p.Val268Leu) c.164+143G>C n.401G>C c.910G>C (p.Val304Leu) c.898G>C (p.Val300Leu) c.691G>C (p.Val231Leu) c.595G>C (p.Val199Leu) c.475G>C (p.Val159Leu) c.85G>C (p.Val29Leu) | dbSNP |
5 | g.139379813C>T | CA3434046 | SLC23A1 | c.790G>A (p.Val264Met) c.802G>A (p.Val268Met) c.164+143G>A n.401G>A c.910G>A (p.Val304Met) c.898G>A (p.Val300Met) c.691G>A (p.Val231Met) c.595G>A (p.Val199Met) c.475G>A (p.Val159Met) c.85G>A (p.Val29Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.139379813C>A | CA361140002 | SLC23A1 | c.790G>T (p.Val264Leu) c.802G>T (p.Val268Leu) c.164+143G>T n.401G>T c.910G>T (p.Val304Leu) c.898G>T (p.Val300Leu) c.691G>T (p.Val231Leu) c.595G>T (p.Val199Leu) c.475G>T (p.Val159Leu) c.85G>T (p.Val29Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |