Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.139379813C>GCA361140004SLC23A1c.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
5g.139379813C>TCA3434046SLC23A1c.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
5g.139379813C>ACA361140002SLC23A1c.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

Number of alleles fetched