Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.64415662A>GCA7225929MTHFD1n.550A>G
c.158A>G (p.Lys53Arg)
c.401A>G (p.Lys134Arg)
n.476A>G
n.25A>G
c.569A>G (p.Lys190Arg)
n.458A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.64415662A>CCA389973868MTHFD1n.550A>C
c.158A>C (p.Lys53Thr)
c.401A>C (p.Lys134Thr)
n.476A>C
n.25A>C
c.569A>C (p.Lys190Thr)
n.458A>C
dbSNP
14g.64415662A>TCA389973871MTHFD1n.550A>T
c.158A>T (p.Lys53Ile)
c.401A>T (p.Lys134Ile)
n.476A>T
n.25A>T
c.569A>T (p.Lys190Ile)
n.458A>T
dbSNP

Number of alleles fetched