| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69035900del | CA193369056 | FXN | c.118del (p.Arg40ValfsTer?) c.118del (p.Arg40ValfsTer27) c.116del | dbSNP |
| 9 | g.69035900C>A | CA373527618 | FXN | c.118C>A (p.Arg40Ser) c.116C>A | gnomAD v4 |
| 9 | g.69035900C= | CA1854034987 | FXN | c.118C= (p.Arg40=) c.116C= | |
| 9 | g.69035900C>G | CA373527622 | FXN | c.118C>G (p.Arg40Gly) c.116C>G | |
| 9 | g.69035900C>T | CA10587675 | FXN | c.118C>T (p.Arg40Cys) c.116C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035901G>A | CA373527628 | FXN | c.119G>A (p.Arg40His) c.117G>A | gnomAD v4 |
| 9 | g.69035901G>C | CA373527632 | FXN | c.119G>C (p.Arg40Pro) c.117G>C | |
| 9 | g.69035901G>T | CA373527630 | FXN | c.119G>T (p.Arg40Leu) c.117G>T | gnomAD v4 |
| 9 | g.69035902T>A | CA465233188 | FXN | c.120T>A (p.Arg40=) c.118T>A | |
| 9 | g.69035902T>C | CA465233190 | FXN | c.120T>C (p.Arg40=) c.118T>C | gnomAD v4 |
| 9 | g.69035902T>G | CA465233189 | FXN | c.120T>G (p.Arg40=) c.118T>G | dbSNP |
| 9 | g.69035903G>A | CA373527635 | FXN | c.121G>A (p.Gly41Ser) c.119G>A | dbSNP gnomAD v4 |
| 9 | g.69035903G>C | CA373527639 | FXN | c.121G>C (p.Gly41Arg) c.119G>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035903G= | CA1854034988 | FXN | c.121G= (p.Gly41=) c.119G= | |
| 9 | g.69035903G>T | CA373527637 | FXN | c.121G>T (p.Gly41Cys) c.119G>T | gnomAD v4 |
| 9 | g.69035904G>A | CA373527641 | FXN | c.122G>A (p.Gly41Asp) c.120G>A | gnomAD v4 |
| 9 | g.69035904G>C | CA373527647 | FXN | c.122G>C (p.Gly41Ala) c.120G>C | |
| 9 | g.69035904G= | CA1854034989 | FXN | c.122G= (p.Gly41=) c.120G= | |
| 9 | g.69035904G>T | CA373527644 | FXN | c.122G>T (p.Gly41Val) c.120G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035905C>A | CA465233192 | FXN | c.123C>A (p.Gly41=) c.121C>A | gnomAD v4 |
| 9 | g.69035905C= | CA1854034990 | FXN | c.123C= (p.Gly41=) c.121C= | |
| 9 | g.69035905C>G | CA465233191 | FXN | c.123C>G (p.Gly41=) c.121C>G | |
| 9 | g.69035905C>T | CA16043768 | FXN | c.123C>T (p.Gly41=) c.121C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035906C>A | CA373527651 | FXN | c.124C>A (p.Leu42Met) c.122C>A | gnomAD v4 |
| 9 | g.69035906C>G | CA373527654 | FXN | c.124C>G (p.Leu42Val) c.122C>G | gnomAD v4 |
| 9 | g.69035906C>T | CA465233193 | FXN | c.124C>T (p.Leu42=) c.122C>T | gnomAD v4 |
| 9 | g.69035907T>A | CA373527656 | FXN | c.125T>A (p.Leu42Gln) c.123T>A | gnomAD v4 |
| 9 | g.69035907T>C | CA373527657 | FXN | c.125T>C (p.Leu42Pro) c.123T>C | gnomAD v4 |
| 9 | g.69035907T>G | CA193369082 | FXN | c.125T>G (p.Leu42Arg) c.123T>G | dbSNP gnomAD v4 |
| 9 | g.69035907T= | CA1854034991 | FXN | c.125T= (p.Leu42=) c.123T= | |
| 9 | g.69035908G>A | CA465233196 | FXN | c.126G>A (p.Leu42=) c.124G>A | gnomAD v4 |
| 9 | g.69035908G>C | CA465233195 | FXN | c.126G>C (p.Leu42=) c.124G>C | |
| 9 | g.69035908G>T | CA465233194 | FXN | c.126G>T (p.Leu42=) c.124G>T | gnomAD v4 |
| 9 | g.69035909C>A | CA373527669 | FXN | c.127C>A (p.Arg43Ser) c.125C>A | gnomAD v4 |
| 9 | g.69035909C= | CA1854034992 | FXN | c.127C= (p.Arg43=) c.125C= | |
| 9 | g.69035909C>G | CA373527666 | FXN | c.127C>G (p.Arg43Gly) c.125C>G | |
| 9 | g.69035909C>T | CA373527661 | FXN | c.127C>T (p.Arg43Cys) c.125C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035912_69035936dup | CA2690187681 | FXN | c.130_154dup (p.Pro52HisfsTer?) c.130_154dup (p.Pro52HisfsTer14) c.128_152dup c.130_154dup (p.Pro52HisfsTer15) | gnomAD v4 |
| 9 | g.69035910G>A | CA5072644 | FXN | c.128G>A (p.Arg43His) c.126G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035910G>C | CA373527674 | FXN | c.128G>C (p.Arg43Pro) c.126G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035910G= | CA1854034993 | FXN | c.128G= (p.Arg43=) c.126G= | |
| 9 | g.69035910G>T | CA373527676 | FXN | c.128G>T (p.Arg43Leu) c.126G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035911C>A | CA465233199 | FXN | c.129C>A (p.Arg43=) c.127C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035911C= | CA1854034994 | FXN | c.129C= (p.Arg43=) c.127C= | |
| 9 | g.69035911C>G | CA465233198 | FXN | c.129C>G (p.Arg43=) c.127C>G | gnomAD v4 |
| 9 | g.69035911C>T | CA465233197 | FXN | c.129C>T (p.Arg43=) c.127C>T | |
| 9 | g.69035912A= | CA1854034995 | FXN | c.130A= (p.Thr44=) c.128A= | |
| 9 | g.69035912A>C | CA373527679 | FXN | c.130A>C (p.Thr44Pro) c.128A>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035912A>G | CA373527682 | FXN | c.130A>G (p.Thr44Ala) c.128A>G | |
| 9 | g.69035912A>T | CA373527683 | FXN | c.130A>T (p.Thr44Ser) c.128A>T | gnomAD v4 |