Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.69035892G>A | CA373527580 | FXN | c.110G>A (p.Cys37Tyr) c.108G>A | gnomAD v4 |
9 | g.69035892G>C | CA373527585 | FXN | c.110G>C (p.Cys37Ser) c.108G>C | |
9 | g.69035892G>T | CA373527582 | FXN | c.110G>T (p.Cys37Phe) c.108G>T | gnomAD v4 |
9 | g.69035893C>A | CA373527587 | FXN | c.111C>A (p.Cys37Ter) c.109C>A | gnomAD v4 |
9 | g.69035893C>G | CA373527590 | FXN | c.111C>G (p.Cys37Trp) c.109C>G | gnomAD v4 |
9 | g.69035893C>T | CA465233182 | FXN | c.111C>T (p.Cys37=) c.109C>T | gnomAD v4 |
9 | g.69035893dup | CA2579347226 | FXN | c.111dup (p.Gly38ArgfsTer?) c.111dup (p.Gly38ArgfsTer20) c.109dup c.111dup (p.Gly38ArgfsTer21) | gnomAD v4 |
9 | g.69035894G>A | CA193369039 | FXN | c.112G>A (p.Gly38Ser) c.110G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035894G>C | CA373527593 | FXN | c.112G>C (p.Gly38Arg) c.110G>C | |
9 | g.69035894G= | CA1854034982 | FXN | c.112G= (p.Gly38=) c.110G= | |
9 | g.69035894G>T | CA193369045 | FXN | c.112G>T (p.Gly38Cys) c.110G>T | dbSNP gnomAD v4 |
9 | g.69035895G>A | CA373527600 | FXN | c.113G>A (p.Gly38Asp) c.111G>A | gnomAD v4 |
9 | g.69035895G>C | CA373527602 | FXN | c.113G>C (p.Gly38Ala) c.111G>C | gnomAD v4 |
9 | g.69035895G>T | CA373527597 | FXN | c.113G>T (p.Gly38Val) c.111G>T | gnomAD v4 |
9 | g.69035896C>A | CA465233184 | FXN | c.114C>A (p.Gly38=) c.112C>A | gnomAD v4 |
9 | g.69035896C>G | CA465233185 | FXN | c.114C>G (p.Gly38=) c.112C>G | |
9 | g.69035896C>T | CA465233183 | FXN | c.114C>T (p.Gly38=) c.112C>T | gnomAD v4 |
9 | g.69035897C>A | CA373527604 | FXN | c.115C>A (p.Arg39Ser) c.113C>A | gnomAD v4 |
9 | g.69035897C= | CA1854034983 | FXN | c.115C= (p.Arg39=) c.113C= | |
9 | g.69035897C>G | CA373527609 | FXN | c.115C>G (p.Arg39Gly) c.113C>G | |
9 | g.69035897C>T | CA193369050 | FXN | c.115C>T (p.Arg39Cys) c.113C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035898G>A | CA373527613 | FXN | c.116G>A (p.Arg39His) c.114G>A | dbSNP gnomAD v4 |
9 | g.69035898G>C | CA373527616 | FXN | c.116G>C (p.Arg39Pro) c.114G>C | gnomAD v4 |
9 | g.69035898G= | CA1854034985 | FXN | c.116G= (p.Arg39=) c.114G= | |
9 | g.69035898G>T | CA373527615 | FXN | c.116G>T (p.Arg39Leu) c.114G>T | dbSNP gnomAD v4 |
9 | g.69035898_69035899delinsGC | CA1854034984 | FXN | c.116_117delinsGC (p.Arg39=) c.114_115delinsGC | |
9 | g.69035899C>A | CA465233187 | FXN | c.117C>A (p.Arg39=) c.115C>A | |
9 | g.69035899C= | CA1854034986 | FXN | c.117C= (p.Arg39=) c.115C= | |
9 | g.69035899C>G | CA465233186 | FXN | c.117C>G (p.Arg39=) c.115C>G | gnomAD v4 |
9 | g.69035899C>T | CA193369078 | FXN | c.117C>T (p.Arg39=) c.115C>T | dbSNP gnomAD v3 gnomAD v4 |
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 | ClinVar 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 |
9 | g.69035913C>A | CA193369109 | FXN | c.131C>A (p.Thr44Asn) c.129C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035913C= | CA1854034996 | FXN | c.131C= (p.Thr44=) c.129C= | |
9 | g.69035913C>G | CA373527689 | FXN | c.131C>G (p.Thr44Ser) c.129C>G | gnomAD v4 |
9 | g.69035913C>T | CA373527687 | FXN | c.131C>T (p.Thr44Ile) c.129C>T | dbSNP |
9 | g.69035914C>A | CA465233201 | FXN | c.132C>A (p.Thr44=) c.130C>A | dbSNP gnomAD v4 |
9 | g.69035914C= | CA1854034997 | FXN | c.132C= (p.Thr44=) c.130C= | |
9 | g.69035914C>G | CA465233200 | FXN | c.132C>G (p.Thr44=) c.130C>G | gnomAD v4 |
9 | g.69035914C>T | CA465233202 | FXN | c.132C>T (p.Thr44=) c.130C>T | dbSNP gnomAD v4 |
9 | g.69035918_69035928dup | CA16622137 | FXN | c.136_146dup (p.Cys50SerfsTer30) c.136_146dup (p.Cys50SerfsTer21) c.134_144dup c.136_146dup (p.Cys50SerfsTer?) | |
9 | g.69035915G>A | CA5072645 | FXN | c.133G>A (p.Asp45Asn) c.131G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035915G>C | CA373527692 | FXN | c.133G>C (p.Asp45His) c.131G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035915G= | CA1854034998 | FXN | c.133G= (p.Asp45=) c.131G= | |
9 | g.69035915G>T | CA373527694 | FXN | c.133G>T (p.Asp45Tyr) c.131G>T | gnomAD v4 |
9 | g.69035916A>C | CA373527696 | FXN | c.134A>C (p.Asp45Ala) c.132A>C | |
9 | g.69035916A>G | CA373527697 | FXN | c.134A>G (p.Asp45Gly) c.132A>G | dbSNP gnomAD v4 |
9 | g.69035916A>T | CA373527699 | FXN | c.134A>T (p.Asp45Val) c.132A>T | |
9 | g.69035917C>A | CA373527701 | FXN | c.135C>A (p.Asp45Glu) c.133C>A | gnomAD v4 |
9 | g.69035917C>G | CA373527703 | FXN | c.135C>G (p.Asp45Glu) c.133C>G | |
9 | g.69035917C>T | CA465233203 | FXN | c.135C>T (p.Asp45=) c.133C>T | gnomAD v4 |
9 | g.69035918A= | CA1854034999 | FXN | c.136A= (p.Ile46=) c.134A= | |
9 | g.69035918A>C | CA373527705 | FXN | c.136A>C (p.Ile46Leu) c.134A>C | |
9 | g.69035918A>G | CA373527707 | FXN | c.136A>G (p.Ile46Val) c.134A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035918A>T | CA373527709 | FXN | c.136A>T (p.Ile46Phe) c.134A>T | gnomAD v4 |
9 | g.69035919T>A | CA373527711 | FXN | c.137T>A (p.Ile46Asn) c.135T>A | dbSNP |
9 | g.69035919T>C | CA373527715 | FXN | c.137T>C (p.Ile46Thr) c.135T>C | dbSNP |
9 | g.69035919T>G | CA373527712 | FXN | c.137T>G (p.Ile46Ser) c.135T>G | dbSNP gnomAD v4 |
9 | g.69035919T= | CA1854035000 | FXN | c.137T= (p.Ile46=) c.135T= | |
9 | g.69035920C>A | CA465233204 | FXN | c.138C>A (p.Ile46=) c.136C>A | gnomAD v4 |
9 | g.69035920C= | CA1854035001 | FXN | c.138C= (p.Ile46=) c.136C= | |
9 | g.69035920C>G | CA5072646 | FXN | c.138C>G (p.Ile46Met) c.136C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035920C>T | CA5072647 | FXN | c.138C>T (p.Ile46=) c.136C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035921G>A | CA373527717 | FXN | c.139G>A (p.Asp47Asn) c.137G>A | gnomAD v4 |
9 | g.69035921G>C | CA373527718 | FXN | c.139G>C (p.Asp47His) c.137G>C | |
9 | g.69035921G>T | CA373527721 | FXN | c.139G>T (p.Asp47Tyr) c.137G>T | gnomAD v4 |
9 | g.69035922A>C | CA373527723 | FXN | c.140A>C (p.Asp47Ala) c.138A>C | |
9 | g.69035922A>G | CA373527725 | FXN | c.140A>G (p.Asp47Gly) c.138A>G | |
9 | g.69035922A>T | CA373527728 | FXN | c.140A>T (p.Asp47Val) c.138A>T | |
9 | g.69035923T>A | CA373527733 | FXN | c.141T>A (p.Asp47Glu) c.139T>A | |
9 | g.69035923T>C | CA465233205 | FXN | c.141T>C (p.Asp47=) c.139T>C | gnomAD v4 |
9 | g.69035923T>G | CA373527736 | FXN | c.141T>G (p.Asp47Glu) c.139T>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035923T= | CA1854035002 | FXN | c.141T= (p.Asp47=) c.139T= | |
9 | g.69035924G>A | CA373527737 | FXN | c.142G>A (p.Ala48Thr) c.140G>A | dbSNP gnomAD v4 |
9 | g.69035924G>C | CA373527739 | FXN | c.142G>C (p.Ala48Pro) c.140G>C | |
9 | g.69035924G= | CA1854035003 | FXN | c.142G= (p.Ala48=) c.140G= | |
9 | g.69035924G>T | CA373527742 | FXN | c.142G>T (p.Ala48Ser) c.140G>T | |
9 | g.69035925C>A | CA373527745 | FXN | c.143C>A (p.Ala48Glu) c.141C>A | gnomAD v4 |
9 | g.69035925C= | CA1854035004 | FXN | c.143C= (p.Ala48=) c.141C= | |
9 | g.69035925C>G | CA373527749 | FXN | c.143C>G (p.Ala48Gly) c.141C>G | gnomAD v4 |
9 | g.69035925C>T | CA373527748 | FXN | c.143C>T (p.Ala48Val) c.141C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035926G>A | CA465233207 | FXN | c.144G>A (p.Ala48=) c.142G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035926G>C | CA193369142 | FXN | c.144G>C (p.Ala48=) c.142G>C | dbSNP gnomAD v4 |
9 | g.69035926G= | CA1854035005 | FXN | c.144G= (p.Ala48=) c.142G= | |
9 | g.69035926G>T | CA465233206 | FXN | c.144G>T (p.Ala48=) c.142G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035927A= | CA1854035006 | FXN | c.145A= (p.Thr49=) c.143A= | |
9 | g.69035927A>C | CA373527752 | FXN | c.145A>C (p.Thr49Pro) c.143A>C | dbSNP |
9 | g.69035927A>G | CA373527753 | FXN | c.145A>G (p.Thr49Ala) c.143A>G | |
9 | g.69035927A>T | CA373527755 | FXN | c.145A>T (p.Thr49Ser) c.143A>T | gnomAD v4 |
9 | g.69035928C>A | CA193369153 | FXN | c.146C>A (p.Thr49Asn) c.144C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035928C= | CA1854035007 | FXN | c.146C= (p.Thr49=) c.144C= | |
9 | g.69035928C>G | CA373527758 | FXN | c.146C>G (p.Thr49Ser) c.144C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035928C>T | CA373527759 | FXN | c.146C>T (p.Thr49Ile) c.144C>T | gnomAD v4 |
9 | g.69035929C>A | CA465233210 | FXN | c.147C>A (p.Thr49=) c.145C>A | gnomAD v4 |
9 | g.69035929C>G | CA465233208 | FXN | c.147C>G (p.Thr49=) c.145C>G | |
9 | g.69035929C>T | CA465233209 | FXN | c.147C>T (p.Thr49=) c.145C>T | gnomAD v4 |
9 | g.69035930T>A | CA373527761 | FXN | c.148T>A (p.Cys50Ser) c.146T>A | |
9 | g.69035930T>C | CA373527763 | FXN | c.148T>C (p.Cys50Arg) c.146T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035930T>G | CA373527766 | FXN | c.148T>G (p.Cys50Gly) c.146T>G | gnomAD v4 |
9 | g.69035930T= | CA1854035008 | FXN | c.148T= (p.Cys50=) c.146T= | |
9 | g.69035931G>A | CA373527771 | FXN | c.149G>A (p.Cys50Tyr) c.147G>A | dbSNP gnomAD v4 |
9 | g.69035931G>C | CA373527768 | FXN | c.149G>C (p.Cys50Ser) c.147G>C | gnomAD v4 |
9 | g.69035931G= | CA1854035009 | FXN | c.149G= (p.Cys50=) c.147G= | |
9 | g.69035931G>T | CA373527767 | FXN | c.149G>T (p.Cys50Phe) c.147G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035932C>A | CA373527774 | FXN | c.150C>A (p.Cys50Ter) c.148C>A | gnomAD v4 |
9 | g.69035932C>G | CA373527775 | FXN | c.150C>G (p.Cys50Trp) c.148C>G | gnomAD v4 |
9 | g.69035932C>T | CA465233211 | FXN | c.150C>T (p.Cys50=) c.148C>T | gnomAD v4 |
9 | g.69035933A= | CA1854035010 | FXN | c.151A= (p.Thr51=) c.149A= | |
9 | g.69035933A>C | CA373527778 | FXN | c.151A>C (p.Thr51Pro) c.149A>C | gnomAD v4 |
9 | g.69035933A>G | CA373527780 | FXN | c.151A>G (p.Thr51Ala) c.149A>G | dbSNP gnomAD v4 |
9 | g.69035933A>T | CA373527782 | FXN | c.151A>T (p.Thr51Ser) c.149A>T | |
9 | g.69035934C>A | CA373527785 | FXN | c.152C>A (p.Thr51Lys) c.150C>A | gnomAD v4 |
9 | g.69035934C= | CA1854035011 | FXN | c.152C= (p.Thr51=) c.150C= | |
9 | g.69035934C>G | CA373527786 | FXN | c.152C>G (p.Thr51Arg) c.150C>G | ClinVar gnomAD v4 |
9 | g.69035934C>T | CA373527788 | FXN | c.152C>T (p.Thr51Met) c.150C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035935G>A | CA465233212 | FXN | c.153G>A (p.Thr51=) c.151G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035935G>C | CA465233213 | FXN | c.153G>C (p.Thr51=) c.151G>C | |
9 | g.69035935G= | CA1854035013 | FXN | c.153G= (p.Thr51=) c.151G= | |
9 | g.69035935G>T | CA465233214 | FXN | c.153G>T (p.Thr51=) c.151G>T | gnomAD v4 |
9 | g.69035935_69035936delinsGC | CA1854035012 | FXN | c.153_154delinsGC (p.Thr51=) c.151_152delinsGC | |
9 | g.69035936C>A | CA373527791 | FXN | c.154C>A (p.Pro52Thr) c.152C>A | dbSNP gnomAD v4 |
9 | g.69035936C= | CA1854035014 | FXN | c.154C= (p.Pro52=) c.152C= | |
9 | g.69035936C>G | CA373527794 | FXN | c.154C>G (p.Pro52Ala) c.152C>G | |
9 | g.69035936C>T | CA193369170 | FXN | c.154C>T (p.Pro52Ser) c.152C>T | dbSNP gnomAD v4 |
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 | |
9 | g.69035949T= | CA1854035024 | FXN | c.165+2T= (n.165+2T=) c.163+2T= | |
9 | g.69035949_69035950insTT | CA891842757 | FXN | c.165+2_165+3insTT (n.165+2_165+3insTT) c.163+2_163+3insTT | ClinVar dbSNP |
9 | g.69035949dup | CA1854035025 | FXN | c.165+2dup (n.165+2dup) c.163+2dup | dbSNP |
9 | g.69035950A= | CA1854035026 | FXN | c.165+3A= (n.165+3A=) c.163+3A= | |
9 | g.69035950A>G | CA866340586 | FXN | c.165+3A>G (n.165+3A>G) c.163+3A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035951dup | CA866340585 | FXN | c.165+4dup (n.165+4dup) c.163+4dup | dbSNP |
9 | g.69035951A>G | CA2690187682 | FXN | c.165+4A>G (n.165+4A>G) c.163+4A>G | gnomAD v4 |
9 | g.69035951A>T | CA2690187683 | FXN | c.165+4A>T (n.165+4A>T) c.163+4A>T | gnomAD v4 |
9 | g.69035952G>A | CA5072648 | FXN | c.165+5G>A (n.165+5G>A) c.163+5G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.69035952G>C | CA193369220 | FXN | c.165+5G>C (n.165+5G>C) c.163+5G>C | dbSNP gnomAD v4 |
9 | g.69035952G= | CA1854035027 | FXN | c.165+5G= (n.165+5G=) c.163+5G= | |
9 | g.69035953_69035958dup | CA2690187684 | FXN | c.165+6_165+11dup (n.165+6_165+11dup) c.163+6_163+11dup | gnomAD v4 |
9 | g.69035953T>A | CA2690187685 | FXN | c.165+6T>A (n.165+6T>A) c.163+6T>A | gnomAD v4 |
9 | g.69035953T>C | CA588647902 | FXN | c.165+6T>C (n.165+6T>C) c.163+6T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035953T>G | CA2784519249 | FXN | c.165+6T>G (n.165+6T>G) c.163+6T>G | |
9 | g.69035953T= | CA1854035028 | FXN | c.165+6T= (n.165+6T=) c.163+6T= | |
9 | g.69035954A>C | CA2784519250 | FXN | c.165+7A>C (n.165+7A>C) c.163+7A>C | |
9 | g.69035954A>G | CA2690187686 | FXN | c.165+7A>G (n.165+7A>G) c.163+7A>G | gnomAD v4 |
9 | g.69035955T>C | CA2690187687 | FXN | c.165+8T>C (n.165+8T>C) c.163+8T>C | gnomAD v4 |
9 | g.69035955T>G | CA2690187688 | FXN | c.165+8T>G (n.165+8T>G) c.163+8T>G | gnomAD v4 |
9 | g.69035956C>A | CA2690187689 | FXN | c.165+9C>A (n.165+9C>A) c.163+9C>A | gnomAD v4 |
9 | g.69035956C= | CA1854035029 | FXN | c.165+9C= (n.165+9C=) c.163+9C= | |
9 | g.69035956C>G | CA193369228 | FXN | c.165+9C>G (n.165+9C>G) c.163+9C>G | dbSNP |
9 | g.69035956C>T | CA588647903 | FXN | c.165+9C>T (n.165+9C>T) c.163+9C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035957C>A | CA2690187690 | FXN | c.165+10C>A (n.165+10C>A) c.163+10C>A | gnomAD v4 |
9 | g.69035957C= | CA1854035030 | FXN | c.165+10C= (n.165+10C=) c.163+10C= | |
9 | g.69035957C>T | CA588647904 | FXN | c.165+10C>T (n.165+10C>T) c.163+10C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035958G>A | CA588647905 | FXN | c.165+11G>A (n.165+11G>A) c.163+11G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035958G>C | CA2690187691 | FXN | c.165+11G>C (n.165+11G>C) c.163+11G>C | gnomAD v4 |
9 | g.69035958G= | CA1854035031 | FXN | c.165+11G= (n.165+11G=) c.163+11G= | |
9 | g.69035958G>T | CA2690187692 | FXN | c.165+11G>T (n.165+11G>T) c.163+11G>T | gnomAD v4 |
9 | g.69035959C>A | CA2690187693 | FXN | c.165+12C>A (n.165+12C>A) c.163+12C>A | gnomAD v4 |
9 | g.69035959C= | CA1854035032 | FXN | c.165+12C= (n.165+12C=) c.163+12C= | |
9 | g.69035959C>G | CA2690187694 | FXN | c.165+12C>G (n.165+12C>G) c.163+12C>G | gnomAD v4 |
9 | g.69035959C>T | CA866340613 | FXN | c.165+12C>T (n.165+12C>T) c.163+12C>T | dbSNP gnomAD v4 |
9 | g.69035960G>A | CA2690187696 | FXN | c.165+13G>A (n.165+13G>A) c.163+13G>A | gnomAD v4 |
9 | g.69035960G>C | CA465233225 | FXN | c.165+13G>C (n.165+13G>C) c.163+13G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035960G= | CA1854035033 | FXN | c.165+13G= (n.165+13G=) c.163+13G= | |
9 | g.69035960G>T | CA2690187695 | FXN | c.165+13G>T (n.165+13G>T) c.163+13G>T | gnomAD v4 |
9 | g.69035961C>A | CA2690187697 | FXN | c.165+14C>A (n.165+14C>A) c.163+14C>A | gnomAD v4 |
9 | g.69035961C= | CA1854035034 | FXN | c.165+14C= (n.165+14C=) c.163+14C= | |
9 | g.69035961C>G | CA588647906 | FXN | c.165+14C>G (n.165+14C>G) c.163+14C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035961C>T | CA193369255 | FXN | c.165+14C>T (n.165+14C>T) c.163+14C>T | dbSNP gnomAD v4 |
9 | g.69035962C>A | CA2690187698 | FXN | c.165+15C>A (n.165+15C>A) c.163+15C>A | gnomAD v4 |
9 | g.69035962C= | CA1854035035 | FXN | c.165+15C= (n.165+15C=) c.163+15C= | |
9 | g.69035962C>T | CA5072649 | FXN | c.165+15C>T (n.165+15C>T) c.163+15C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035963G>A | CA588647907 | FXN | c.165+16G>A (n.165+16G>A) c.163+16G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035963G>C | CA193369285 | FXN | c.165+16G>C (n.165+16G>C) c.163+16G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035963G= | CA1854035036 | FXN | c.165+16G= (n.165+16G=) c.163+16G= | |
9 | g.69035963G>T | CA2690187700 | FXN | c.165+16G>T (n.165+16G>T) c.163+16G>T | gnomAD v4 |
9 | g.69035965del | CA2690187699 | FXN | c.165+18del (n.165+18del) c.163+18del | gnomAD v4 |
9 | g.69035964G>A | CA588647908 | FXN | c.165+17G>A (n.165+17G>A) c.163+17G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035964G>C | CA2690187701 | FXN | c.165+17G>C (n.165+17G>C) c.163+17G>C | gnomAD v4 |
9 | g.69035964G= | CA1854035037 | FXN | c.165+17G= (n.165+17G=) c.163+17G= | |
9 | g.69035964G>T | CA2690187702 | FXN | c.165+17G>T (n.165+17G>T) c.163+17G>T | gnomAD v4 |
9 | g.69035965G>A | CA588647909 | FXN | c.165+18G>A (n.165+18G>A) c.163+18G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035965G>C | CA2579347227 | FXN | c.165+18G>C (n.165+18G>C) c.163+18G>C | gnomAD v4 |
9 | g.69035965G= | CA1854035038 | FXN | c.165+18G= (n.165+18G=) c.163+18G= | |
9 | g.69035965G>T | CA2690187703 | FXN | c.165+18G>T (n.165+18G>T) c.163+18G>T | gnomAD v4 |
9 | g.69035966_69035989dup | CA2690187704 | FXN | c.165+19_165+42dup (n.165+19_165+42dup) c.163+19_163+42dup | gnomAD v4 |
9 | g.69035966A>G | CA2690187705 | FXN | c.165+19A>G (n.165+19A>G) c.163+19A>G | gnomAD v4 |
9 | g.69035967A= | CA1854035039 | FXN | c.165+20A= (n.165+20A=) c.163+20A= | |
9 | g.69035967A>C | CA2784519251 | FXN | c.165+20A>C (n.165+20A>C) c.163+20A>C | |
9 | g.69035967A>G | CA1854035040 | FXN | c.165+20A>G (n.165+20A>G) c.163+20A>G | dbSNP gnomAD v4 |
9 | g.69035968C>A | CA2690187706 | FXN | c.165+21C>A (n.165+21C>A) c.163+21C>A | gnomAD v4 |
9 | g.69035968C= | CA1854035041 | FXN | c.165+21C= (n.165+21C=) c.163+21C= | |
9 | g.69035968C>T | CA1854035042 | FXN | c.165+21C>T (n.165+21C>T) c.163+21C>T | dbSNP gnomAD v4 |
9 | g.69035969A>C | CA2579347228 | FXN | c.165+22A>C (n.165+22A>C) c.163+22A>C | |
9 | g.69035969A>G | CA2690187708 | FXN | c.165+22A>G (n.165+22A>G) c.163+22A>G | gnomAD v4 |
9 | g.69035969_69035976delinsAGCCGCGG | CA1854035044 | FXN | c.165+22_165+29delinsAGCCGCGG (n.165+22_165+29delinsAGCCGCGG) c.163+22_163+29delinsAGCCGCGG | |
9 | g.69035969_69035982del | CA2690187707 | FXN | c.165+22_165+35del (n.165+22_165+35del) c.163+22_163+35del | gnomAD v4 |
9 | g.69035969_69035983delinsAGCCGCGGGCCGCAC | CA1854035043 | FXN | c.165+22_165+36delinsAGCCGCGGGCCGCAC (n.165+22_165+36delinsAGCCGCGGGCCGCAC) c.163+22_163+36delinsAGCCGCGGGCCGCAC | |
9 | g.69035970G>A | CA588647910 | FXN | c.165+23G>A (n.165+23G>A) c.163+23G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035970G= | CA1854035046 | FXN | c.165+23G= (n.165+23G=) c.163+23G= | |
9 | g.69035970G>T | CA2690187710 | FXN | c.165+23G>T (n.165+23G>T) c.163+23G>T | gnomAD v4 |
9 | g.69035975_69035981del | CA1854035045 | FXN | c.165+28_165+34del (n.165+28_165+34del) c.163+28_163+34del | dbSNP gnomAD v4 |
9 | g.69035975_69035995dup | CA2690187709 | FXN | c.165+28_165+48dup (n.165+28_165+48dup) c.163+28_163+48dup | gnomAD v4 |
9 | g.69035975_69035995del | CA2579347229 | FXN | c.165+28_165+48del (n.165+28_165+48del) c.163+28_163+48del | gnomAD v4 |
9 | g.69035989_69036002dup | CA465233226 | FXN | c.165+42_165+55dup (n.165+42_165+55dup) c.163+42_163+55dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035975_69036002dup | CA918473492 | FXN | c.165+28_165+55dup (n.165+28_165+55dup) c.163+28_163+55dup | dbSNP |
9 | g.69035989_69036002del | CA5072650 | FXN | c.165+42_165+55del (n.165+42_165+55del) c.163+42_163+55del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035971C>A | CA2690187711 | FXN | c.165+24C>A (n.165+24C>A) c.163+24C>A | gnomAD v4 |
9 | g.69035971C= | CA1854035047 | FXN | c.165+24C= (n.165+24C=) c.163+24C= | |
9 | g.69035971C>G | CA1854035048 | FXN | c.165+24C>G (n.165+24C>G) c.163+24C>G | dbSNP gnomAD v4 |
9 | g.69035971C>T | CA588647911 | FXN | c.165+24C>T (n.165+24C>T) c.163+24C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035972C>A | CA588647912 | FXN | c.165+25C>A (n.165+25C>A) c.163+25C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035972C= | CA1854035049 | FXN | c.165+25C= (n.165+25C=) c.163+25C= | |
9 | g.69035972C>G | CA193369296 | FXN | c.165+25C>G (n.165+25C>G) c.163+25C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035972C>T | CA2690187712 | FXN | c.165+25C>T (n.165+25C>T) c.163+25C>T | gnomAD v4 |
9 | g.69035973G>A | CA1125110365 | FXN | c.165+26G>A (n.165+26G>A) c.163+26G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035973G= | CA1854035050 | FXN | c.165+26G= (n.165+26G=) c.163+26G= | |
9 | g.69035973G>T | CA2690187713 | FXN | c.165+26G>T (n.165+26G>T) c.163+26G>T | gnomAD v4 |
9 | g.69035974del | CA2690187714 | FXN | c.165+27del (n.165+27del) c.163+27del | gnomAD v4 |
9 | g.69035974C>A | CA2690187715 | FXN | c.165+27C>A (n.165+27C>A) c.163+27C>A | gnomAD v4 |
9 | g.69035974C= | CA1854035051 | FXN | c.165+27C= (n.165+27C=) c.163+27C= | |
9 | g.69035974C>G | CA193369297 | FXN | c.165+27C>G (n.165+27C>G) c.163+27C>G | dbSNP |
9 | g.69035974C>T | CA866340645 | FXN | c.165+27C>T (n.165+27C>T) c.163+27C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035975G>A | CA2579347230 | FXN | c.165+28G>A (n.165+28G>A) c.163+28G>A | gnomAD v4 |
9 | g.69035975G= | CA1854035052 | FXN | c.165+28G= (n.165+28G=) c.163+28G= | |
9 | g.69035975G>T | CA1854035053 | FXN | c.165+28G>T (n.165+28G>T) c.163+28G>T | dbSNP gnomAD v4 |
9 | g.69035977del | CA2690187716 | FXN | c.165+30del (n.165+30del) c.163+30del | gnomAD v4 |
9 | g.69035976G>A | CA1854035056 | FXN | c.165+29G>A (n.165+29G>A) c.163+29G>A | dbSNP gnomAD v4 |
9 | g.69035976G>C | CA2690187717 | FXN | c.165+29G>C (n.165+29G>C) c.163+29G>C | gnomAD v4 |
9 | g.69035976G= | CA1854035055 | FXN | c.165+29G= (n.165+29G=) c.163+29G= | |
9 | g.69035976G>T | CA2579347231 | FXN | c.165+29G>T (n.165+29G>T) c.163+29G>T | gnomAD v4 |
9 | g.69035976_69035997delinsGGCCGCACGCCGCGGGCCGCAC | CA1854035054 | FXN | c.165+29_165+50delinsGGCCGCACGCCGCGGGCCGCAC (n.165+29_165+50delinsGGCCGCACGCCGCGGGCCGCAC) c.163+29_163+50delinsGGCCGCACGCCGCGGGCCGCAC | |
9 | g.69035977G>A | CA2690187718 | FXN | c.165+30G>A (n.165+30G>A) c.163+30G>A | gnomAD v4 |
9 | g.69035977G>T | CA653003182 | FXN | c.165+30G>T (n.165+30G>T) c.163+30G>T | gnomAD v4 COSMIC COSMIC |
9 | g.69035982_69035988dup | CA1854035057 | FXN | c.165+35_165+41dup (n.165+35_165+41dup) c.163+35_163+41dup | dbSNP gnomAD v4 |
9 | g.69035987_69036007dup | CA588647913 | FXN | c.165+40_165+60dup (n.165+40_165+60dup) c.163+40_163+60dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035987_69036007del | CA5072651 | FXN | c.165+40_165+60del (n.165+40_165+60del) c.163+40_163+60del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035978C>A | CA1125110382 | FXN | c.165+31C>A (n.165+31C>A) c.163+31C>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035978C= | CA1854035058 | FXN | c.165+31C= (n.165+31C=) c.163+31C= | |
9 | g.69035978C>T | CA193369309 | FXN | c.165+31C>T (n.165+31C>T) c.163+31C>T | dbSNP gnomAD v4 |
9 | g.69035979del | CA2567671103 | FXN | c.165+32del (n.165+32del) c.163+32del | gnomAD v4 |
9 | g.69035979C>A | CA2690187721 | FXN | c.165+32C>A (n.165+32C>A) c.163+32C>A | gnomAD v4 |
9 | g.69035979C= | CA1854035059 | FXN | c.165+32C= (n.165+32C=) c.163+32C= | |
9 | g.69035979C>G | CA1854035060 | FXN | c.165+32C>G (n.165+32C>G) c.163+32C>G | dbSNP |
9 | g.69035979C>T | CA588647914 | FXN | c.165+32C>T (n.165+32C>T) c.163+32C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035980_69035981del | CA2690187719 | FXN | c.165+33_165+34del (n.165+33_165+34del) c.163+33_163+34del | gnomAD v4 |
9 | g.69035988_69036033del | CA2690187720 | FXN | c.165+41_165+86del (n.165+41_165+86del) c.163+41_163+86del | gnomAD v4 |
9 | g.69035980G>A | CA588647915 | FXN | c.165+33G>A (n.165+33G>A) c.163+33G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035980G>C | CA193369330 | FXN | c.165+33G>C (n.165+33G>C) c.163+33G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035980G= | CA1854035061 | FXN | c.165+33G= (n.165+33G=) c.163+33G= | |
9 | g.69035980G>T | CA2690187722 | FXN | c.165+33G>T (n.165+33G>T) c.163+33G>T | gnomAD v4 |
9 | g.69035981C>A | CA866340662 | FXN | c.165+34C>A (n.165+34C>A) c.163+34C>A | dbSNP gnomAD v4 |
9 | g.69035981C= | CA1854035062 | FXN | c.165+34C= (n.165+34C=) c.163+34C= | |
9 | g.69035981C>G | CA2579347232 | FXN | c.165+34C>G (n.165+34C>G) c.163+34C>G | |
9 | g.69035981C>T | CA2690187723 | FXN | c.165+34C>T (n.165+34C>T) c.163+34C>T | gnomAD v4 |
9 | g.69035982A= | CA1854035063 | FXN | c.165+35A= (n.165+35A=) c.163+35A= | |
9 | g.69035982A>C | CA193369339 | FXN | c.165+35A>C (n.165+35A>C) c.163+35A>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035982A>G | CA2690187724 | FXN | c.165+35A>G (n.165+35A>G) c.163+35A>G | gnomAD v4 |
9 | g.69035983C>A | CA588647916 | FXN | c.165+36C>A (n.165+36C>A) c.163+36C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035983C= | CA1854035064 | FXN | c.165+36C= (n.165+36C=) c.163+36C= | |
9 | g.69035983C>G | CA2690187726 | FXN | c.165+36C>G (n.165+36C>G) c.163+36C>G | gnomAD v4 |
9 | g.69035983C>T | CA5072652 | FXN | c.165+36C>T (n.165+36C>T) c.163+36C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.69035983_69035990delinsCGCCGCGG | CA1854035065 | FXN | c.165+36_165+43delinsCGCCGCGG (n.165+36_165+43delinsCGCCGCGG) c.163+36_163+43delinsCGCCGCGG | |
9 | g.69035984_69035995del | CA2690187725 | FXN | c.165+37_165+48del (n.165+37_165+48del) c.163+37_163+48del | gnomAD v4 |
9 | g.69035984G>A | CA2690187729 | FXN | c.165+37G>A (n.165+37G>A) c.163+37G>A | gnomAD v4 |
9 | g.69035984G>T | CA2690187728 | FXN | c.165+37G>T (n.165+37G>T) c.163+37G>T | gnomAD v4 |
9 | g.69035989_69035995dup | CA1854035066 | FXN | c.165+42_165+48dup (n.165+42_165+48dup) c.163+42_163+48dup | dbSNP gnomAD v4 |
9 | g.69035989_69035995del | CA193369349 | FXN | c.165+42_165+48del (n.165+42_165+48del) c.163+42_163+48del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035986_69036010del | CA2690187727 | FXN | c.165+39_165+63del (n.165+39_165+63del) c.163+39_163+63del | gnomAD v4 |
9 | g.69035985C>A | CA653003183 | FXN | c.165+38C>A (n.165+38C>A) c.163+38C>A | gnomAD v4 COSMIC |
9 | g.69035985C= | CA1854035067 | FXN | c.165+38C= (n.165+38C=) c.163+38C= | |
9 | g.69035985C>G | CA653003184 | FXN | c.165+38C>G (n.165+38C>G) c.163+38C>G | gnomAD v4 COSMIC |
9 | g.69035985C>T | CA5072653 | FXN | c.165+38C>T (n.165+38C>T) c.163+38C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.69035986del | CA2690187730 | FXN | c.165+39del (n.165+39del) c.163+39del | gnomAD v4 |
9 | g.69035986C>A | CA2690187731 | FXN | c.165+39C>A (n.165+39C>A) c.163+39C>A | gnomAD v4 |
9 | g.69035986C= | CA1854035068 | FXN | c.165+39C= (n.165+39C=) c.163+39C= | |
9 | g.69035986C>G | CA588647917 | FXN | c.165+39C>G (n.165+39C>G) c.163+39C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035986C>T | CA2690187732 | FXN | c.165+39C>T (n.165+39C>T) c.163+39C>T | gnomAD v4 |
9 | g.69035987G>A | CA1125110400 | FXN | c.165+40G>A (n.165+40G>A) c.163+40G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035987G= | CA1854035069 | FXN | c.165+40G= (n.165+40G=) c.163+40G= | |
9 | g.69035987G>T | CA2690187733 | FXN | c.165+40G>T (n.165+40G>T) c.163+40G>T | gnomAD v4 |
9 | g.69035988C>A | CA1854035071 | FXN | c.165+41C>A (n.165+41C>A) c.163+41C>A | dbSNP gnomAD v4 |
9 | g.69035988C= | CA1854035072 | FXN | c.165+41C= (n.165+41C=) c.163+41C= | |
9 | g.69035988C>G | CA2579347233 | FXN | c.165+41C>G (n.165+41C>G) c.163+41C>G | gnomAD v4 |
9 | g.69035988C>T | CA5072654 | FXN | c.165+41C>T (n.165+41C>T) c.163+41C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.69035988_69035989delinsCG | CA1854035070 | FXN | c.165+41_165+42delinsCG (n.165+41_165+42delinsCG) c.163+41_163+42delinsCG | |
9 | g.69035989G>A | CA2579347234 | FXN | c.165+42G>A (n.165+42G>A) c.163+42G>A | gnomAD v4 |
9 | g.69035989G>C | CA193369390 | FXN | c.165+42G>C (n.165+42G>C) c.163+42G>C | dbSNP gnomAD v4 |
9 | g.69035989G= | CA1854035073 | FXN | c.165+42G= (n.165+42G=) c.163+42G= | |
9 | g.69035989G>T | CA2690187735 | FXN | c.165+42G>T (n.165+42G>T) c.163+42G>T | gnomAD v4 |
9 | g.69035991del | CA866340685 | FXN | c.165+44del (n.165+44del) c.163+44del | dbSNP |
9 | g.69035990_69035991del | CA2690187734 | FXN | c.165+43_165+44del (n.165+43_165+44del) c.163+43_163+44del | gnomAD v4 |
9 | g.69035990G>A | CA866340687 | FXN | c.165+43G>A (n.165+43G>A) c.163+43G>A | dbSNP gnomAD v4 |
9 | g.69035990G>C | CA193369397 | FXN | c.165+43G>C (n.165+43G>C) c.163+43G>C | dbSNP gnomAD v4 |
9 | g.69035990G= | CA1854035075 | FXN | c.165+43G= (n.165+43G=) c.163+43G= | |
9 | g.69035990G>T | CA2690187736 | FXN | c.165+43G>T (n.165+43G>T) c.163+43G>T | gnomAD v4 |
9 | g.69035990_69035997delinsGGCCGCAC | CA1854035074 | FXN | c.165+43_165+50delinsGGCCGCAC (n.165+43_165+50delinsGGCCGCAC) c.163+43_163+50delinsGGCCGCAC | |
9 | g.69035991G>A | CA193369401 | FXN | c.165+44G>A (n.165+44G>A) c.163+44G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035991G>C | CA2690187738 | FXN | c.165+44G>C (n.165+44G>C) c.163+44G>C | gnomAD v4 |
9 | g.69035991G= | CA1854035077 | FXN | c.165+44G= (n.165+44G=) c.163+44G= | |
9 | g.69035991G>T | CA588647918 | FXN | c.165+44G>T (n.165+44G>T) c.163+44G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035991_69035992insGCGCACG | CA2690187740 | FXN | c.165+44_165+45insGCGCACG (n.165+44_165+45insGCGCACG) c.163+44_163+45insGCGCACG | gnomAD v4 |
9 | g.69035992_69035993insAGCACGC | CA2690187737 | FXN | c.165+45_165+46insAGCACGC (n.165+45_165+46insAGCACGC) c.163+45_163+46insAGCACGC | gnomAD v4 |
9 | g.69036007_69036008insGCACGCCGCACGCCGCACGCC | CA1854035076 | FXN | c.165+60_165+61insGCACGCCGCACGCCGCACGCC (n.165+60_165+61insGCACGCCGCACGCCGCACGCC) c.163+60_163+61insGCACGCCGCACGCCGCACGCC | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69036001_69036007dup | CA5072655 | FXN | c.165+54_165+60dup (n.165+54_165+60dup) c.163+54_163+60dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035994_69036007dup | CA918473494 | FXN | c.165+47_165+60dup (n.165+47_165+60dup) c.163+47_163+60dup | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69036001_69036007del | CA193369410 | FXN | c.165+54_165+60del (n.165+54_165+60del) c.163+54_163+60del | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035994_69036007del | CA2579347235 | FXN | c.165+47_165+60del (n.165+47_165+60del) c.163+47_163+60del | gnomAD v4 |
9 | g.69035996_69036025del | CA2690187739 | FXN | c.165+49_165+78del (n.165+49_165+78del) c.163+49_163+78del | gnomAD v4 |
9 | g.69035992C>A | CA1854035078 | FXN | c.165+45C>A (n.165+45C>A) c.163+45C>A | dbSNP gnomAD v4 |
9 | g.69035992C= | CA1854035079 | FXN | c.165+45C= (n.165+45C=) c.163+45C= | |
9 | g.69035992C>G | CA2579347236 | FXN | c.165+45C>G (n.165+45C>G) c.163+45C>G | gnomAD v4 |
9 | g.69035992C>T | CA866340695 | FXN | c.165+45C>T (n.165+45C>T) c.163+45C>T | dbSNP gnomAD v3 gnomAD v4 |