Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.69035939dup | CA193369163 | FXN | c.157dup (p.Arg53ProfsTer?) c.157dup (p.Arg53ProfsTer5) c.155dup c.157dup (p.Arg53ProfsTer6) | dbSNP |
9 | g.69035939del | CA10575483 | FXN | c.157del (p.Arg53AlafsTer23) c.157del (p.Arg53AlafsTer14) c.155del c.157del (p.Arg53AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035937C>A | CA373527795 | FXN | c.155C>A (p.Pro52His) c.153C>A | gnomAD v4 |
9 | g.69035937C= | CA1854035015 | FXN | c.155C= (p.Pro52=) c.153C= | |
9 | g.69035937C>G | CA373527800 | FXN | c.155C>G (p.Pro52Arg) c.153C>G | |
9 | g.69035937C>T | CA193369173 | FXN | c.155C>T (p.Pro52Leu) c.153C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035938C>A | CA465233216 | FXN | c.156C>A (p.Pro52=) c.154C>A | gnomAD v4 |
9 | g.69035938C>G | CA465233215 | FXN | c.156C>G (p.Pro52=) c.154C>G | |
9 | g.69035938C>T | CA465233217 | FXN | c.156C>T (p.Pro52=) c.154C>T | gnomAD v4 |
9 | g.69035939C>A | CA373527807 | FXN | c.157C>A (p.Arg53Ser) c.155C>A | dbSNP gnomAD v4 |
9 | g.69035939C>G | CA373527804 | FXN | c.157C>G (p.Arg53Gly) c.155C>G | |
9 | g.69035939C>T | CA373527806 | FXN | c.157C>T (p.Arg53Cys) c.155C>T | gnomAD v4 |
9 | g.69035940G>A | CA373527809 | FXN | c.158G>A (p.Arg53His) c.156G>A | dbSNP gnomAD v4 |
9 | g.69035940G>C | CA373527812 | FXN | c.158G>C (p.Arg53Pro) c.156G>C | gnomAD v4 |
9 | g.69035940G= | CA1854035016 | FXN | c.158G= (p.Arg53=) c.156G= | |
9 | g.69035940G>T | CA193369175 | FXN | c.158G>T (p.Arg53Leu) c.156G>T | dbSNP gnomAD v4 |
9 | g.69035941C>A | CA465233218 | FXN | c.159C>A (p.Arg53=) c.157C>A | gnomAD v4 |
9 | g.69035941C= | CA1854035017 | FXN | c.159C= (p.Arg53=) c.157C= | |
9 | g.69035941C>G | CA465233219 | FXN | c.159C>G (p.Arg53=) c.157C>G | |
9 | g.69035941C>T | CA193369177 | FXN | c.159C>T (p.Arg53=) c.157C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035942C>A | CA373527816 | FXN | c.160C>A (p.Arg54Ser) c.158C>A | gnomAD v4 |
9 | g.69035942C= | CA1854035018 | FXN | c.160C= (p.Arg54=) c.158C= | |
9 | g.69035942C>G | CA373527818 | FXN | c.160C>G (p.Arg54Gly) c.158C>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035942C>T | CA193369187 | FXN | c.160C>T (p.Arg54Cys) c.158C>T | dbSNP gnomAD v4 |
9 | g.69035943G>A | CA193369199 | FXN | c.161G>A (p.Arg54His) c.159G>A | dbSNP gnomAD v4 |
9 | g.69035943G>C | CA373527824 | FXN | c.161G>C (p.Arg54Pro) c.159G>C | |
9 | g.69035943G= | CA1854035019 | FXN | c.161G= (p.Arg54=) c.159G= | |
9 | g.69035943G>T | CA373527827 | FXN | c.161G>T (p.Arg54Leu) c.159G>T | gnomAD v4 |
9 | g.69035944C>A | CA465233220 | FXN | c.162C>A (p.Arg54=) c.160C>A | gnomAD v4 |
9 | g.69035944C= | CA1854035020 | FXN | c.162C= (p.Arg54=) c.160C= | |
9 | g.69035944C>G | CA465233221 | FXN | c.162C>G (p.Arg54=) c.160C>G | |
9 | g.69035944C>T | CA193369207 | FXN | c.162C>T (p.Arg54=) c.160C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035945G>A | CA373527835 | FXN | c.163G>A (p.Ala55Thr) c.161G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035945G>C | CA373527832 | FXN | c.163G>C (p.Ala55Pro) c.161G>C | gnomAD v4 |
9 | g.69035945G= | CA1854035021 | FXN | c.163G= (p.Ala55=) c.161G= | |
9 | g.69035945G>T | CA373527830 | FXN | c.163G>T (p.Ala55Ser) c.161G>T | gnomAD v4 |
9 | g.69035946C>A | CA373527837 | FXN | c.164C>A (p.Ala55Glu) c.162C>A | gnomAD v4 |
9 | g.69035946C>G | CA373527840 | FXN | c.164C>G (p.Ala55Gly) c.162C>G | |
9 | g.69035946C>T | CA373527842 | FXN | c.164C>T (p.Ala55Val) c.162C>T | |
9 | g.69035947A= | CA1854035022 | FXN | c.165A= (p.Ala55=) c.163A= | |
9 | g.69035947A>C | CA465233224 | FXN | c.165A>C (p.Ala55=) c.163A>C | |
9 | g.69035947A>G | CA465233222 | FXN | c.165A>G (p.Ala55=) c.163A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035947A>T | CA465233223 | FXN | c.165A>T (p.Ala55=) c.163A>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035948G>A | CA373527844 | FXN | c.165+1G>A (n.165+1G>A) c.163+1G>A | gnomAD v4 |
9 | g.69035948G>C | CA373527845 | FXN | c.165+1G>C (n.165+1G>C) c.163+1G>C | |
9 | g.69035948G= | CA1854035023 | FXN | c.165+1G= (n.165+1G=) c.163+1G= | |
9 | g.69035948G>T | CA373527846 | FXN | c.165+1G>T (n.165+1G>T) c.163+1G>T | gnomAD v4 |
9 | g.69035949T>A | CA373527848 | FXN | c.165+2T>A (n.165+2T>A) c.163+2T>A | |
9 | g.69035949T>C | CA373527851 | FXN | c.165+2T>C (n.165+2T>C) c.163+2T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035949T>G | CA373527854 | FXN | c.165+2T>G (n.165+2T>G) c.163+2T>G |