| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69035753G>A | CA193368779 | FXN | c.-30G>A (n.-30G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035753G>C | CA2579347221 | FXN | c.-30G>C (n.-30G>C) | |
| 9 | g.69035753G= | CA1854034881 | FXN | c.-30G= (n.-30G=) | |
| 9 | g.69035753G>T | CA2690187635 | FXN | c.-30G>T (n.-30G>T) | gnomAD v4 |
| 9 | g.69035754G>A | CA193368780 | FXN | c.-29G>A (n.-29G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035754G= | CA1854034882 | FXN | c.-29G= (n.-29G=) | |
| 9 | g.69035754G>T | CA2690187636 | FXN | c.-29G>T (n.-29G>T) | gnomAD v4 |
| 9 | g.69035755G>A | CA866340113 | FXN | c.-28G>A (n.-28G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035755G>C | CA2690187637 | FXN | c.-28G>C (n.-28G>C) | gnomAD v4 |
| 9 | g.69035755G= | CA1854034883 | FXN | c.-28G= (n.-28G=) | |
| 9 | g.69035755G>T | CA2690187638 | FXN | c.-28G>T (n.-28G>T) | gnomAD v4 |
| 9 | g.69035756C>A | CA2690187639 | FXN | c.-27C>A (n.-27C>A) | gnomAD v4 |
| 9 | g.69035756C>T | CA2690187640 | FXN | c.-27C>T (n.-27C>T) | gnomAD v4 |
| 9 | g.69035757G>A | CA2690187641 | FXN | c.-26G>A (n.-26G>A) | gnomAD v4 |
| 9 | g.69035757G>T | CA2690187642 | FXN | c.-26G>T (n.-26G>T) | gnomAD v4 |
| 9 | g.69035758G>A | CA1854034885 | FXN | c.-25G>A (n.-25G>A) | dbSNP gnomAD v4 |
| 9 | g.69035758G= | CA1854034884 | FXN | c.-25G= (n.-25G=) | |
| 9 | g.69035758G>T | CA2690187643 | FXN | c.-25G>T (n.-25G>T) | gnomAD v4 |
| 9 | g.69035759A= | CA1854034886 | FXN | c.-24A= (n.-24A=) | |
| 9 | g.69035759A>G | CA1854034887 | FXN | c.-24A>G (n.-24A>G) | dbSNP gnomAD v4 |
| 9 | g.69035760G>A | CA2690187644 | FXN | c.-23G>A (n.-23G>A) | gnomAD v4 |
| 9 | g.69035760G>T | CA2690187645 | FXN | c.-23G>T (n.-23G>T) | gnomAD v4 |
| 9 | g.69035761C>A | CA5072631 | FXN | c.-22C>A (n.-22C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.69035761C= | CA1854034888 | FXN | c.-22C= (n.-22C=) | |
| 9 | g.69035761C>T | CA1125110132 | FXN | c.-22C>T (n.-22C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035762G>A | CA588647893 | FXN | c.-21G>A (n.-21G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035762G= | CA1854034889 | FXN | c.-21G= (n.-21G=) | |
| 9 | g.69035762G>T | CA2579347222 | FXN | c.-21G>T (n.-21G>T) | gnomAD v4 |
| 9 | g.69035763G>A | CA588647894 | FXN | c.-20G>A (n.-20G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035763G= | CA1854034890 | FXN | c.-20G= (n.-20G=) | |
| 9 | g.69035764G>A | CA2690187647 | FXN | c.-19G>A (n.-19G>A) | gnomAD v4 |
| 9 | g.69035764G>T | CA2690187646 | FXN | c.-19G>T (n.-19G>T) | gnomAD v4 |
| 9 | g.69035765C>A | CA2690187649 | FXN | c.-18C>A (n.-18C>A) | gnomAD v4 |
| 9 | g.69035765C= | CA1854034891 | FXN | c.-18C= (n.-18C=) | |
| 9 | g.69035765C>T | CA2690187650 | FXN | c.-18C>T (n.-18C>T) | gnomAD v4 |
| 9 | g.69035772_69035877del | CA2690187648 | FXN | c.-11_95del | gnomAD v4 |
| 9 | g.69035766G>A | CA2579347223 | FXN | c.-17G>A (n.-17G>A) | gnomAD v4 |
| 9 | g.69035766G>C | CA1854034894 | FXN | c.-17G>C (n.-17G>C) | dbSNP gnomAD v4 |
| 9 | g.69035766G= | CA1854034893 | FXN | c.-17G= (n.-17G=) | |
| 9 | g.69035766G>T | CA2690187651 | FXN | c.-17G>T (n.-17G>T) | gnomAD v4 |
| 9 | g.69035767dup | CA1854034892 | FXN | c.-16dup (n.-16dup) | dbSNP |
| 9 | g.69035767G>A | CA2690187652 | FXN | c.-16G>A (n.-16G>A) | gnomAD v4 |
| 9 | g.69035767G>T | CA2690187653 | FXN | c.-16G>T (n.-16G>T) | gnomAD v4 |
| 9 | g.69035768C>A | CA2690187654 | FXN | c.-15C>A (n.-15C>A) | gnomAD v4 |
| 9 | g.69035768C= | CA1854034895 | FXN | c.-15C= (n.-15C=) | |
| 9 | g.69035768C>G | CA2690187655 | FXN | c.-15C>G (n.-15C>G) | gnomAD v4 |
| 9 | g.69035768C>T | CA1854034896 | FXN | c.-15C>T (n.-15C>T) | dbSNP gnomAD v4 |
| 9 | g.69035769A= | CA1854034897 | FXN | c.-14A= (n.-14A=) | |
| 9 | g.69035769A>C | CA193368805 | FXN | c.-14A>C (n.-14A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035769A>G | CA193368811 | FXN | c.-14A>G (n.-14A>G) | dbSNP gnomAD v4 |
| 9 | g.69035770G>A | CA193368812 | FXN | c.-13G>A (n.-13G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035770G= | CA1854034898 | FXN | c.-13G= (n.-13G=) | |
| 9 | g.69035770G>T | CA2579347224 | FXN | c.-13G>T (n.-13G>T) | gnomAD v4 |
| 9 | g.69035771A= | CA1854034899 | FXN | c.-12A= (n.-12A=) | |
| 9 | g.69035771A>C | CA866340126 | FXN | c.-12A>C (n.-12A>C) | dbSNP gnomAD v4 |
| 9 | g.69035771A>G | CA2690187656 | FXN | c.-12A>G (n.-12A>G) | gnomAD v4 |
| 9 | g.69035772C>A | CA2690187657 | FXN | c.-11C>A (n.-11C>A) | gnomAD v4 |
| 9 | g.69035772C= | CA1854034901 | FXN | c.-11C= (n.-11C=) | |
| 9 | g.69035772C>T | CA1854034900 | FXN | c.-11C>T (n.-11C>T) | dbSNP |
| 9 | g.69035773C>A | CA866340131 | FXN | c.-10C>A (n.-10C>A) | dbSNP gnomAD v4 |
| 9 | g.69035773C= | CA1854034902 | FXN | c.-10C= (n.-10C=) | |
| 9 | g.69035773C>G | CA2690187658 | FXN | c.-10C>G (n.-10C>G) | gnomAD v4 |
| 9 | g.69035773C>T | CA5072632 | FXN | c.-10C>T (n.-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.69035774C>A | CA2690187659 | FXN | c.-9C>A (n.-9C>A) | gnomAD v4 |
| 9 | g.69035774C= | CA1854034903 | FXN | c.-9C= (n.-9C=) | |
| 9 | g.69035774C>G | CA193368825 | FXN | c.-9C>G (n.-9C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035774C>T | CA2690187660 | FXN | c.-9C>T (n.-9C>T) | gnomAD v4 |
| 9 | g.69035775G>A | CA588647895 | FXN | c.-8G>A (n.-8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035775G= | CA1854034904 | FXN | c.-8G= (n.-8G=) | |
| 9 | g.69035775G>T | CA2690187661 | FXN | c.-8G>T (n.-8G>T) | gnomAD v4 |
| 9 | g.69035776G>A | CA200282 | FXN | c.-7G>A (n.-7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035776G>C | CA588647896 | FXN | c.-7G>C (n.-7G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035776G= | CA1854034905 | FXN | c.-7G= (n.-7G=) | |
| 9 | g.69035776G>T | CA2690187662 | FXN | c.-7G>T (n.-7G>T) | gnomAD v4 |
| 9 | g.69035777A>C | CA2690187663 | FXN | c.-6A>C (n.-6A>C) | gnomAD v4 |
| 9 | g.69035777A>G | CA2690187664 | FXN | c.-6A>G (n.-6A>G) | gnomAD v4 |
| 9 | g.69035778G>A | CA588647897 | FXN | c.-5G>A (n.-5G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035778G= | CA1854034906 | FXN | c.-5G= (n.-5G=) | |
| 9 | g.69035778G>T | CA2690187665 | FXN | c.-5G>T (n.-5G>T) | gnomAD v4 |
| 9 | g.69035779C>A | CA2690187666 | FXN | c.-4C>A (n.-4C>A) | gnomAD v4 |
| 9 | g.69035779C= | CA1854034907 | FXN | c.-4C= (n.-4C=) | |
| 9 | g.69035779C>T | CA588647898 | FXN | c.-4C>T (n.-4C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035780A>C | CA2579347225 | FXN | c.-3A>C (n.-3A>C) | gnomAD v4 |
| 9 | g.69035780A>G | CA2690187667 | FXN | c.-3A>G (n.-3A>G) | gnomAD v4 |
| 9 | g.69035781G>A | CA1854034909 | FXN | c.-2G>A (n.-2G>A) | dbSNP gnomAD v4 |
| 9 | g.69035781G>C | CA588647899 | FXN | c.-2G>C (n.-2G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035781G= | CA1854034908 | FXN | c.-2G= (n.-2G=) | |
| 9 | g.69035781G>T | CA2690187668 | FXN | c.-2G>T (n.-2G>T) | gnomAD v4 |
| 9 | g.69035782C>A | CA2690187669 | FXN | c.-1C>A (n.-1C>A) | gnomAD v4 |
| 9 | g.69035782C= | CA1854034910 | FXN | c.-1C= (n.-1C=) | |
| 9 | g.69035782C>G | CA193368850 | FXN | c.-1C>G (n.-1C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035782C>T | CA588647900 | FXN | c.-1C>T (n.-1C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035783A= | CA1854034912 | FXN | c.1A= (p.Met1=) | |
| 9 | g.69035783A>C | CA193368857 | FXN | c.1A>C (p.Met1Leu) | dbSNP |
| 9 | g.69035783A>G | CA373527232 | FXN | c.1A>G (p.Met1Val) | dbSNP gnomAD v4 |
| 9 | g.69035783A>T | CA373527231 | FXN | c.1A>T (p.Met1Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035783dup | CA2690187670 | FXN | c.1dup (p.Met1AsnfsTer?) | gnomAD v4 |
| 9 | g.69035783_69035784delinsAT | CA1854034911 | FXN | c.1_2delinsAT (p.Met1=) | |
| 9 | g.69035784del | CA193368875 | FXN | c.2del (p.Met1SerfsTer9) | dbSNP gnomAD v4 |
| 9 | g.69035784T>A | CA373527233 | FXN | c.2T>A (p.Met1Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035784T>C | CA193368877 | FXN | c.2T>C (p.Met1Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035784T>G | CA373527234 | FXN | c.2T>G (p.Met1Arg) | gnomAD v4 |
| 9 | g.69035784T= | CA1854034913 | FXN | c.2T= (p.Met1=) | |
| 9 | g.69035785G>A | CA193368899 | FXN | c.3G>A (p.Met1Ile) c.1G>A | dbSNP gnomAD v4 |
| 9 | g.69035785G>C | CA373527235 | FXN | c.3G>C (p.Met1Ile) c.1G>C | |
| 9 | g.69035785G= | CA1854034914 | FXN | c.3G= (p.Met1=) c.1G= | |
| 9 | g.69035785G>T | CA252968 | FXN | c.3G>T (p.Met1Ile) c.1G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035786T>A | CA373527236 | FXN | c.4T>A (p.Trp2Arg) c.2T>A | |
| 9 | g.69035786T>C | CA373527237 | FXN | c.4T>C (p.Trp2Arg) c.2T>C | |
| 9 | g.69035786T>G | CA373527238 | FXN | c.4T>G (p.Trp2Gly) c.2T>G | |
| 9 | g.69035787G>A | CA373527241 | FXN | c.5G>A (p.Trp2Ter) c.3G>A | gnomAD v4 |
| 9 | g.69035787G>C | CA373527240 | FXN | c.5G>C (p.Trp2Ser) c.3G>C | |
| 9 | g.69035787G= | CA1854034915 | FXN | c.5G= (p.Trp2=) c.3G= | |
| 9 | g.69035787G>T | CA373527239 | FXN | c.5G>T (p.Trp2Leu) c.3G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035788G>A | CA373527242 | FXN | c.6G>A (p.Trp2Ter) c.4G>A | gnomAD v4 |
| 9 | g.69035788G>C | CA373527243 | FXN | c.6G>C (p.Trp2Cys) c.4G>C | gnomAD v4 |
| 9 | g.69035788G>T | CA373527244 | FXN | c.6G>T (p.Trp2Cys) c.4G>T | |
| 9 | g.69035789A>C | CA373527245 | FXN | c.7A>C (p.Thr3Pro) c.5A>C | gnomAD v4 |
| 9 | g.69035789A>G | CA373527246 | FXN | c.7A>G (p.Thr3Ala) c.5A>G | gnomAD v4 |
| 9 | g.69035789A>T | CA373527247 | FXN | c.7A>T (p.Thr3Ser) c.5A>T | gnomAD v4 |
| 9 | g.69035789_69035791delinsACT | CA1854034916 | FXN | c.7_9delinsACT (p.Thr3=) c.5_7delinsACT | |
| 9 | g.69035790C>A | CA373527248 | FXN | c.8C>A (p.Thr3Asn) c.6C>A | |
| 9 | g.69035790C>G | CA373527249 | FXN | c.8C>G (p.Thr3Ser) c.6C>G | |
| 9 | g.69035790C>T | CA373527250 | FXN | c.8C>T (p.Thr3Ile) c.6C>T | |
| 9 | g.69035793_69035794del | CA10587673 | FXN | c.11_12del (p.Leu4ArgfsTer?) c.9_10del | ClinVar dbSNP gnomAD v4 |
| 9 | g.69035791T>A | CA5072633 | FXN | c.9T>A (p.Thr3=) c.7T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.69035791T>C | CA465232957 | FXN | c.9T>C (p.Thr3=) c.7T>C | gnomAD v4 |
| 9 | g.69035791T>G | CA465232960 | FXN | c.9T>G (p.Thr3=) c.7T>G | |
| 9 | g.69035791T= | CA1854034917 | FXN | c.9T= (p.Thr3=) c.7T= | |
| 9 | g.69035792C>A | CA373527252 | FXN | c.10C>A (p.Leu4Ile) c.8C>A | |
| 9 | g.69035792C>G | CA373527253 | FXN | c.10C>G (p.Leu4Val) c.8C>G | |
| 9 | g.69035792C>T | CA373527251 | FXN | c.10C>T (p.Leu4Phe) c.8C>T | gnomAD v4 |
| 9 | g.69035793T>A | CA373527254 | FXN | c.11T>A (p.Leu4His) c.9T>A | |
| 9 | g.69035793T>C | CA373527255 | FXN | c.11T>C (p.Leu4Pro) c.9T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035793T>G | CA373527256 | FXN | c.11T>G (p.Leu4Arg) c.9T>G | |
| 9 | g.69035793T= | CA1854034918 | FXN | c.11T= (p.Leu4=) c.9T= | |
| 9 | g.69035794C>A | CA465232972 | FXN | c.12C>A (p.Leu4=) c.10C>A | gnomAD v4 |
| 9 | g.69035794C= | CA1854034919 | FXN | c.12C= (p.Leu4=) c.10C= | |
| 9 | g.69035794C>G | CA465232968 | FXN | c.12C>G (p.Leu4=) c.10C>G | dbSNP gnomAD v4 |
| 9 | g.69035794C>T | CA465232970 | FXN | c.12C>T (p.Leu4=) c.10C>T | gnomAD v4 |
| 9 | g.69035795G>A | CA373527257 | FXN | c.13G>A (p.Gly5Arg) c.11G>A | gnomAD v4 |
| 9 | g.69035795G>C | CA193368921 | FXN | c.13G>C (p.Gly5Arg) c.11G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035795G= | CA1854034920 | FXN | c.13G= (p.Gly5=) c.11G= | |
| 9 | g.69035795G>T | CA373527258 | FXN | c.13G>T (p.Gly5Trp) c.11G>T | gnomAD v4 |
| 9 | g.69035795_69035797del | CA2690187672 | FXN | c.13_15del (p.Gly5del) c.11_13del | gnomAD v4 |
| 9 | g.69035797del | CA2690187671 | FXN | c.15del (p.Arg6AlafsTer4) c.13del | gnomAD v4 |
| 9 | g.69035796G>A | CA373527259 | FXN | c.14G>A (p.Gly5Glu) c.12G>A | gnomAD v4 |
| 9 | g.69035796G>C | CA373527260 | FXN | c.14G>C (p.Gly5Ala) c.12G>C | ClinVar |
| 9 | g.69035796G>T | CA373527261 | FXN | c.14G>T (p.Gly5Val) c.12G>T | |
| 9 | g.69035797G>A | CA465232985 | FXN | c.15G>A (p.Gly5=) c.13G>A | gnomAD v4 |
| 9 | g.69035797G>C | CA465232987 | FXN | c.15G>C (p.Gly5=) c.13G>C | |
| 9 | g.69035797G= | CA1854034921 | FXN | c.15G= (p.Gly5=) c.13G= | |
| 9 | g.69035797G>T | CA465232983 | FXN | c.15G>T (p.Gly5=) c.13G>T | dbSNP gnomAD v4 |
| 9 | g.69035798C>A | CA373527262 | FXN | c.16C>A (p.Arg6Ser) c.14C>A | gnomAD v4 |
| 9 | g.69035798C>G | CA373527263 | FXN | c.16C>G (p.Arg6Gly) c.14C>G | |
| 9 | g.69035798C>T | CA373527264 | FXN | c.16C>T (p.Arg6Cys) c.14C>T | gnomAD v4 |
| 9 | g.69035799G>A | CA373527266 | FXN | c.17G>A (p.Arg6His) c.15G>A | dbSNP gnomAD v4 |
| 9 | g.69035799G>C | CA373527265 | FXN | c.17G>C (p.Arg6Pro) c.15G>C | |
| 9 | g.69035799G= | CA1854034922 | FXN | c.17G= (p.Arg6=) c.15G= | |
| 9 | g.69035799G>T | CA193368929 | FXN | c.17G>T (p.Arg6Leu) c.15G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035800C>A | CA465232996 | FXN | c.18C>A (p.Arg6=) c.16C>A | |
| 9 | g.69035800C= | CA1854034923 | FXN | c.18C= (p.Arg6=) c.16C= | |
| 9 | g.69035800C>G | CA465232998 | FXN | c.18C>G (p.Arg6=) c.16C>G | |
| 9 | g.69035800C>T | CA193368938 | FXN | c.18C>T (p.Arg6=) c.16C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035801C>A | CA373527267 | FXN | c.19C>A (p.Arg7Ser) c.17C>A | gnomAD v4 |
| 9 | g.69035801C>G | CA373527268 | FXN | c.19C>G (p.Arg7Gly) c.17C>G | |
| 9 | g.69035801C>T | CA373527269 | FXN | c.19C>T (p.Arg7Cys) c.17C>T | gnomAD v4 |
| 9 | g.69035802G>A | CA373527270 | FXN | c.20G>A (p.Arg7His) c.18G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035802G>C | CA373527271 | FXN | c.20G>C (p.Arg7Pro) c.18G>C | |
| 9 | g.69035802G= | CA1854034924 | FXN | c.20G= (p.Arg7=) c.18G= | |
| 9 | g.69035802G>T | CA373527272 | FXN | c.20G>T (p.Arg7Leu) c.18G>T | gnomAD v4 |
| 9 | g.69035803C>A | CA465233007 | FXN | c.21C>A (p.Arg7=) c.19C>A | gnomAD v4 |
| 9 | g.69035803C>G | CA465233010 | FXN | c.21C>G (p.Arg7=) c.19C>G | |
| 9 | g.69035803C>T | CA465233012 | FXN | c.21C>T (p.Arg7=) c.19C>T | gnomAD v4 |
| 9 | g.69035804G>A | CA373527273 | FXN | c.22G>A (p.Ala8Thr) c.20G>A | dbSNP gnomAD v4 |
| 9 | g.69035804G>C | CA373527274 | FXN | c.22G>C (p.Ala8Pro) c.20G>C | |
| 9 | g.69035804G= | CA1854034925 | FXN | c.22G= (p.Ala8=) c.20G= | |
| 9 | g.69035804G>T | CA373527275 | FXN | c.22G>T (p.Ala8Ser) c.20G>T | gnomAD v4 |
| 9 | g.69035805C>A | CA373527276 | FXN | c.23C>A (p.Ala8Glu) c.21C>A | gnomAD v4 |
| 9 | g.69035805C= | CA1854034926 | FXN | c.23C= (p.Ala8=) c.21C= | |
| 9 | g.69035805C>G | CA5072634 | FXN | c.23C>G (p.Ala8Gly) c.21C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.69035805C>T | CA373527277 | FXN | c.23C>T (p.Ala8Val) c.21C>T | gnomAD v4 |
| 9 | g.69035806A>C | CA465233026 | FXN | c.24A>C (p.Ala8=) c.22A>C | |
| 9 | g.69035806A>G | CA465233023 | FXN | c.24A>G (p.Ala8=) c.22A>G | |
| 9 | g.69035806A>T | CA465233024 | FXN | c.24A>T (p.Ala8=) c.22A>T | |
| 9 | g.69035807G>A | CA373527279 | FXN | c.25G>A (p.Val9Ile) c.23G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035807G>C | CA373527280 | FXN | c.25G>C (p.Val9Leu) c.23G>C | gnomAD v4 |
| 9 | g.69035807G= | CA1854034927 | FXN | c.25G= (p.Val9=) c.23G= | |
| 9 | g.69035807G>T | CA373527278 | FXN | c.25G>T (p.Val9Leu) c.23G>T | gnomAD v4 |
| 9 | g.69035808T>A | CA373527283 | FXN | c.26T>A (p.Val9Glu) c.24T>A | |
| 9 | g.69035808T>C | CA373527281 | FXN | c.26T>C (p.Val9Ala) c.24T>C | gnomAD v4 |
| 9 | g.69035808T>G | CA373527282 | FXN | c.26T>G (p.Val9Gly) c.24T>G | |
| 9 | g.69035809A= | CA1854034928 | FXN | c.27A= (p.Val9=) c.25A= | |
| 9 | g.69035809A>C | CA465233036 | FXN | c.27A>C (p.Val9=) c.25A>C | |
| 9 | g.69035809A>G | CA465233038 | FXN | c.27A>G (p.Val9=) c.25A>G | dbSNP |
| 9 | g.69035809A>T | CA465233040 | FXN | c.27A>T (p.Val9=) c.25A>T | |
| 9 | g.69035810G>A | CA193368950 | FXN | c.28G>A (p.Ala10Thr) c.26G>A | dbSNP |
| 9 | g.69035810G>C | CA373527284 | FXN | c.28G>C (p.Ala10Pro) c.26G>C | |
| 9 | g.69035810G= | CA1854034929 | FXN | c.28G= (p.Ala10=) c.26G= | |
| 9 | g.69035810G>T | CA373527285 | FXN | c.28G>T (p.Ala10Ser) c.26G>T | gnomAD v4 |
| 9 | g.69035811C>A | CA373527288 | FXN | c.29C>A (p.Ala10Asp) c.27C>A | gnomAD v4 |
| 9 | g.69035811C= | CA1854034930 | FXN | c.29C= (p.Ala10=) c.27C= | |
| 9 | g.69035811C>G | CA373527287 | FXN | c.29C>G (p.Ala10Gly) c.27C>G | |
| 9 | g.69035811C>T | CA373527286 | FXN | c.29C>T (p.Ala10Val) c.27C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035812C>A | CA465233053 | FXN | c.30C>A (p.Ala10=) c.28C>A | dbSNP gnomAD v4 |
| 9 | g.69035812C= | CA1854034931 | FXN | c.30C= (p.Ala10=) c.28C= | |
| 9 | g.69035812C>G | CA465233051 | FXN | c.30C>G (p.Ala10=) c.28C>G | gnomAD v4 |
| 9 | g.69035812C>T | CA193368957 | FXN | c.30C>T (p.Ala10=) c.28C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035813G>A | CA373527289 | FXN | c.31G>A (p.Gly11Ser) c.29G>A | dbSNP gnomAD v4 |
| 9 | g.69035813G>C | CA373527290 | FXN | c.31G>C (p.Gly11Arg) c.29G>C | |
| 9 | g.69035813G= | CA1854034932 | FXN | c.31G= (p.Gly11=) c.29G= | |
| 9 | g.69035813G>T | CA373527291 | FXN | c.31G>T (p.Gly11Cys) c.29G>T | gnomAD v4 |
| 9 | g.69035814G>A | CA373527292 | FXN | c.32G>A (p.Gly11Asp) c.30G>A | gnomAD v4 |
| 9 | g.69035814G>C | CA373527293 | FXN | c.32G>C (p.Gly11Ala) c.30G>C | |
| 9 | g.69035814G= | CA1854034933 | FXN | c.32G= (p.Gly11=) c.30G= | |
| 9 | g.69035814G>T | CA373527294 | FXN | c.32G>T (p.Gly11Val) c.30G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035815C>A | CA465233065 | FXN | c.33C>A (p.Gly11=) c.31C>A | gnomAD v4 |
| 9 | g.69035815C= | CA1854034934 | FXN | c.33C= (p.Gly11=) c.31C= | |
| 9 | g.69035815C>G | CA465233069 | FXN | c.33C>G (p.Gly11=) c.31C>G | |
| 9 | g.69035815C>T | CA465233067 | FXN | c.33C>T (p.Gly11=) c.31C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035816C>A | CA373527295 | FXN | c.34C>A (p.Leu12Ile) c.32C>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035816C= | CA1854034935 | FXN | c.34C= (p.Leu12=) c.32C= | |
| 9 | g.69035816C>G | CA373527297 | FXN | c.34C>G (p.Leu12Val) c.32C>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.69035816C>T | CA373527296 | FXN | c.34C>T (p.Leu12Phe) c.32C>T | |
| 9 | g.69035817T>A | CA373527298 | FXN | c.35T>A (p.Leu12His) c.33T>A | |
| 9 | g.69035817T>C | CA373527299 | FXN | c.35T>C (p.Leu12Pro) c.33T>C | gnomAD v4 |
| 9 | g.69035817T>G | CA373527300 | FXN | c.35T>G (p.Leu12Arg) c.33T>G | |
| 9 | g.69035818C>A | CA465233079 | FXN | c.36C>A (p.Leu12=) c.34C>A | gnomAD v4 |
| 9 | g.69035818C= | CA1854034936 | FXN | c.36C= (p.Leu12=) c.34C= | |
| 9 | g.69035818C>G | CA465233083 | FXN | c.36C>G (p.Leu12=) c.34C>G | |
| 9 | g.69035818C>T | CA465233081 | FXN | c.36C>T (p.Leu12=) c.34C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035819C>A | CA373527301 | FXN | c.37C>A (p.Leu13Met) c.35C>A | |
| 9 | g.69035819C>G | CA373527302 | FXN | c.37C>G (p.Leu13Val) c.35C>G | |
| 9 | g.69035819C>T | CA465233087 | FXN | c.37C>T (p.Leu13=) c.35C>T | gnomAD v4 |
| 9 | g.69035820T>A | CA373527303 | FXN | c.38T>A (p.Leu13Gln) c.36T>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035820T>C | CA373527304 | FXN | c.38T>C (p.Leu13Pro) c.36T>C | gnomAD v4 |
| 9 | g.69035820T>G | CA373527305 | FXN | c.38T>G (p.Leu13Arg) c.36T>G | |
| 9 | g.69035820T= | CA1854034937 | FXN | c.38T= (p.Leu13=) c.36T= | |
| 9 | g.69035821G>A | CA465233096 | FXN | c.39G>A (p.Leu13=) c.37G>A | gnomAD v4 |
| 9 | g.69035821G>C | CA465233098 | FXN | c.39G>C (p.Leu13=) c.37G>C | |
| 9 | g.69035821G>T | CA465233095 | FXN | c.39G>T (p.Leu13=) c.37G>T | gnomAD v4 |
| 9 | g.69035822del | CA2690187673 | FXN | c.40del (p.Ala14ArgfsTer?) c.38del | gnomAD v4 |
| 9 | g.69035822G>A | CA373527306 | FXN | c.40G>A (p.Ala14Thr) c.38G>A | gnomAD v4 |
| 9 | g.69035822G>C | CA373527307 | FXN | c.40G>C (p.Ala14Pro) c.38G>C | |
| 9 | g.69035822G>T | CA373527308 | FXN | c.40G>T (p.Ala14Ser) c.38G>T | |
| 9 | g.69035823C>A | CA5072635 | FXN | c.41C>A (p.Ala14Glu) c.39C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035823C= | CA1854034938 | FXN | c.41C= (p.Ala14=) c.39C= | |
| 9 | g.69035823C>G | CA373527310 | FXN | c.41C>G (p.Ala14Gly) c.39C>G | |
| 9 | g.69035823C>T | CA373527309 | FXN | c.41C>T (p.Ala14Val) c.39C>T | ClinVar gnomAD v4 |
| 9 | g.69035824G>A | CA465233111 | FXN | c.42G>A (p.Ala14=) c.40G>A | gnomAD v4 |
| 9 | g.69035824G>C | CA465233110 | FXN | c.42G>C (p.Ala14=) c.40G>C | gnomAD v4 |
| 9 | g.69035824G>T | CA465233113 | FXN | c.42G>T (p.Ala14=) c.40G>T | gnomAD v4 |
| 9 | g.69035824dup | CA2690187674 | FXN | c.42dup (p.Ser15ValfsTer?) c.40dup | gnomAD v4 |
| 9 | g.69035825del | CA2690187675 | FXN | c.43del (p.Ser15HisfsTer?) c.41del | gnomAD v4 |
| 9 | g.69035825T>A | CA373527311 | FXN | c.43T>A (p.Ser15Thr) c.41T>A | |
| 9 | g.69035825T>C | CA373527312 | FXN | c.43T>C (p.Ser15Pro) c.41T>C | |
| 9 | g.69035825T>G | CA373527313 | FXN | c.43T>G (p.Ser15Ala) c.41T>G | gnomAD v4 |
| 9 | g.69035826C>A | CA373527315 | FXN | c.44C>A (p.Ser15Ter) c.42C>A | |
| 9 | g.69035826C>G | CA373527316 | FXN | c.44C>G (p.Ser15Ter) c.42C>G | gnomAD v4 |
| 9 | g.69035826C>T | CA373527317 | FXN | c.44C>T (p.Ser15Leu) c.42C>T | gnomAD v4 |
| 9 | g.69035827A>C | CA465233124 | FXN | c.45A>C (p.Ser15=) c.43A>C | dbSNP |
| 9 | g.69035827A>G | CA465233122 | FXN | c.45A>G (p.Ser15=) c.43A>G | gnomAD v4 |
| 9 | g.69035827A>T | CA465233123 | FXN | c.45A>T (p.Ser15=) c.43A>T | |
| 9 | g.69035828C>A | CA373527319 | FXN | c.46C>A (p.Pro16Thr) c.44C>A | |
| 9 | g.69035828C= | CA1854034939 | FXN | c.46C= (p.Pro16=) c.44C= | |
| 9 | g.69035828C>G | CA373527320 | FXN | c.46C>G (p.Pro16Ala) c.44C>G | |
| 9 | g.69035828C>T | CA373527322 | FXN | c.46C>T (p.Pro16Ser) c.44C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035829C>A | CA373527323 | FXN | c.47C>A (p.Pro16His) c.45C>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035829C= | CA1854034940 | FXN | c.47C= (p.Pro16=) c.45C= | |
| 9 | g.69035829C>G | CA373527325 | FXN | c.47C>G (p.Pro16Arg) c.45C>G | |
| 9 | g.69035829C>T | CA373527326 | FXN | c.47C>T (p.Pro16Leu) c.45C>T | gnomAD v4 |
| 9 | g.69035830C>A | CA465233128 | FXN | c.48C>A (p.Pro16=) c.46C>A | gnomAD v4 |
| 9 | g.69035830C= | CA1854034941 | FXN | c.48C= (p.Pro16=) c.46C= | |
| 9 | g.69035830C>G | CA465233130 | FXN | c.48C>G (p.Pro16=) c.46C>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035830C>T | CA465233127 | FXN | c.48C>T (p.Pro16=) c.46C>T | gnomAD v4 |
| 9 | g.69035831A= | CA1854034942 | FXN | c.49A= (p.Ser17=) c.47A= | |
| 9 | g.69035831A>C | CA373527329 | FXN | c.49A>C (p.Ser17Arg) c.47A>C | |
| 9 | g.69035831A>G | CA373527331 | FXN | c.49A>G (p.Ser17Gly) c.47A>G | gnomAD v4 |
| 9 | g.69035831A>T | CA373527328 | FXN | c.49A>T (p.Ser17Cys) c.47A>T | |
| 9 | g.69035832G>A | CA373527334 | FXN | c.50G>A (p.Ser17Asn) c.48G>A | gnomAD v4 |
| 9 | g.69035832G>C | CA373527337 | FXN | c.50G>C (p.Ser17Thr) c.48G>C | dbSNP |
| 9 | g.69035832G= | CA1854034943 | FXN | c.50G= (p.Ser17=) c.48G= | |
| 9 | g.69035832G>T | CA373527339 | FXN | c.50G>T (p.Ser17Ile) c.48G>T | ClinVar gnomAD v4 |
| 9 | g.69035835_69035836insGGCCC | CA5072636 | FXN | c.53_54insGGCCC (p.Ala21ProfsTer?) c.51_52insGGCCC | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035833C>A | CA373527342 | FXN | c.51C>A (p.Ser17Arg) c.49C>A | gnomAD v4 |
| 9 | g.69035833C= | CA1854034944 | FXN | c.51C= (p.Ser17=) c.49C= | |
| 9 | g.69035833C>G | CA373527343 | FXN | c.51C>G (p.Ser17Arg) c.49C>G | |
| 9 | g.69035833C>T | CA465233132 | FXN | c.51C>T (p.Ser17=) c.49C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035834C>A | CA373527345 | FXN | c.52C>A (p.Pro18Thr) c.50C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035834C= | CA1854034945 | FXN | c.52C= (p.Pro18=) c.50C= | |
| 9 | g.69035834C>G | CA373527348 | FXN | c.52C>G (p.Pro18Ala) c.50C>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035834C>T | CA373527346 | FXN | c.52C>T (p.Pro18Ser) c.50C>T | |
| 9 | g.69035835C>A | CA373527350 | FXN | c.53C>A (p.Pro18Gln) c.51C>A | gnomAD v4 |
| 9 | g.69035835C= | CA1854034946 | FXN | c.53C= (p.Pro18=) c.51C= | |
| 9 | g.69035835C>G | CA373527352 | FXN | c.53C>G (p.Pro18Arg) c.51C>G | |
| 9 | g.69035835C>T | CA373527353 | FXN | c.53C>T (p.Pro18Leu) c.51C>T | gnomAD v4 |
| 9 | g.69035835_69035836insGGCCCA | CA1854034947 | FXN | c.53_54insGGCCCA (p.Pro18_Ala19insAlaGln) c.51_52insGGCCCA | dbSNP |
| 9 | g.69035836A= | CA1854034948 | FXN | c.54A= (p.Pro18=) c.52A= | |
| 9 | g.69035836A>C | CA465233134 | FXN | c.54A>C (p.Pro18=) c.52A>C | gnomAD v4 |
| 9 | g.69035836A>G | CA152917 | FXN | c.54A>G (p.Pro18=) c.52A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035836A>T | CA465233135 | FXN | c.54A>T (p.Pro18=) c.52A>T | dbSNP gnomAD v4 |
| 9 | g.69035837G>A | CA373527360 | FXN | c.55G>A (p.Ala19Thr) c.53G>A | ClinVar gnomAD v4 |
| 9 | g.69035837G>C | CA373527359 | FXN | c.55G>C (p.Ala19Pro) c.53G>C | gnomAD v4 |
| 9 | g.69035837G= | CA1854034949 | FXN | c.55G= (p.Ala19=) c.53G= | |
| 9 | g.69035837G>T | CA373527357 | FXN | c.55G>T (p.Ala19Ser) c.53G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035837dup | CA5072637 | FXN | c.55dup (p.Ala19GlyfsTer?) c.53dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035838C>A | CA373527363 | FXN | c.56C>A (p.Ala19Asp) c.54C>A | gnomAD v4 |
| 9 | g.69035838C>G | CA373527361 | FXN | c.56C>G (p.Ala19Gly) c.54C>G | |
| 9 | g.69035838C>T | CA373527362 | FXN | c.56C>T (p.Ala19Val) c.54C>T | gnomAD v4 |
| 9 | g.69035839C>A | CA465233137 | FXN | c.57C>A (p.Ala19=) c.55C>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035839C= | CA1854034950 | FXN | c.57C= (p.Ala19=) c.55C= | |
| 9 | g.69035839C>G | CA465233139 | FXN | c.57C>G (p.Ala19=) c.55C>G | |
| 9 | g.69035839C>T | CA465233138 | FXN | c.57C>T (p.Ala19=) c.55C>T | gnomAD v4 |
| 9 | g.69035840C>A | CA373527365 | FXN | c.58C>A (p.Gln20Lys) c.56C>A | gnomAD v4 |
| 9 | g.69035840C>G | CA373527367 | FXN | c.58C>G (p.Gln20Glu) c.56C>G | |
| 9 | g.69035840C>T | CA373527368 | FXN | c.58C>T (p.Gln20Ter) c.56C>T | |
| 9 | g.69035841A>C | CA373527370 | FXN | c.59A>C (p.Gln20Pro) c.57A>C | gnomAD v4 |
| 9 | g.69035841A>G | CA373527372 | FXN | c.59A>G (p.Gln20Arg) c.57A>G | gnomAD v4 |
| 9 | g.69035841A>T | CA373527373 | FXN | c.59A>T (p.Gln20Leu) c.57A>T | |
| 9 | g.69035842G>A | CA465233140 | FXN | c.60G>A (p.Gln20=) c.58G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035842G>C | CA373527375 | FXN | c.60G>C (p.Gln20His) c.58G>C | gnomAD v4 |
| 9 | g.69035842G= | CA1854034951 | FXN | c.60G= (p.Gln20=) c.58G= | |
| 9 | g.69035842G>T | CA373527376 | FXN | c.60G>T (p.Gln20His) c.58G>T | |
| 9 | g.69035843G>A | CA373527378 | FXN | c.61G>A (p.Ala21Thr) c.59G>A | gnomAD v4 |
| 9 | g.69035843G>C | CA373527380 | FXN | c.61G>C (p.Ala21Pro) c.59G>C | |
| 9 | g.69035843G= | CA1854034952 | FXN | c.61G= (p.Ala21=) c.59G= | |
| 9 | g.69035843G>T | CA373527382 | FXN | c.61G>T (p.Ala21Ser) c.59G>T | gnomAD v4 |
| 9 | g.69035844C>A | CA373527386 | FXN | c.62C>A (p.Ala21Asp) c.60C>A | dbSNP |
| 9 | g.69035844C= | CA1854034953 | FXN | c.62C= (p.Ala21=) c.60C= | |
| 9 | g.69035844C>G | CA373527384 | FXN | c.62C>G (p.Ala21Gly) c.60C>G | |
| 9 | g.69035844C>T | CA373527383 | FXN | c.62C>T (p.Ala21Val) c.60C>T | dbSNP gnomAD v4 |
| 9 | g.69035847_69035852dup | CA1125110218 | FXN | c.65_70dup (p.Thr23_Leu24insGlnThr) c.63_68dup | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035845C>A | CA465233142 | FXN | c.63C>A (p.Ala21=) c.61C>A | |
| 9 | g.69035845C>G | CA465233141 | FXN | c.63C>G (p.Ala21=) c.61C>G | |
| 9 | g.69035845C>T | CA465233143 | FXN | c.63C>T (p.Ala21=) c.61C>T | |
| 9 | g.69035846C>A | CA373527388 | FXN | c.64C>A (p.Gln22Lys) c.62C>A | gnomAD v4 |
| 9 | g.69035846C>G | CA373527390 | FXN | c.64C>G (p.Gln22Glu) c.62C>G | gnomAD v4 |
| 9 | g.69035846C>T | CA373527392 | FXN | c.64C>T (p.Gln22Ter) c.62C>T | |
| 9 | g.69035847A= | CA1854034954 | FXN | c.65A= (p.Gln22=) c.63A= | |
| 9 | g.69035847A>C | CA373527394 | FXN | c.65A>C (p.Gln22Pro) c.63A>C | |
| 9 | g.69035847A>G | CA373527396 | FXN | c.65A>G (p.Gln22Arg) c.63A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.69035847A>T | CA373527397 | FXN | c.65A>T (p.Gln22Leu) c.63A>T | gnomAD v4 |
| 9 | g.69035848G>A | CA465233144 | FXN | c.66G>A (p.Gln22=) c.64G>A | gnomAD v4 |
| 9 | g.69035848G>C | CA373527399 | FXN | c.66G>C (p.Gln22His) c.64G>C | gnomAD v4 |
| 9 | g.69035848G>T | CA373527401 | FXN | c.66G>T (p.Gln22His) c.64G>T | gnomAD v4 |
| 9 | g.69035848_69035853dup | CA588647901 | FXN | c.66_71dup (p.Leu24_Thr25insThrLeu) c.64_69dup | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035849A= | CA1854034955 | FXN | c.67A= (p.Thr23=) c.65A= | |
| 9 | g.69035849A>C | CA373527402 | FXN | c.67A>C (p.Thr23Pro) c.65A>C | gnomAD v4 |
| 9 | g.69035849A>G | CA5072638 | FXN | c.67A>G (p.Thr23Ala) c.65A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.69035849A>T | CA373527405 | FXN | c.67A>T (p.Thr23Ser) c.65A>T | |
| 9 | g.69035850C>A | CA373527407 | FXN | c.68C>A (p.Thr23Asn) c.66C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035850C= | CA1854034956 | FXN | c.68C= (p.Thr23=) c.66C= | |
| 9 | g.69035850C>G | CA373527408 | FXN | c.68C>G (p.Thr23Ser) c.66C>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69035850C>T | CA5072639 | FXN | c.68C>T (p.Thr23Ile) c.66C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035851C>A | CA465233145 | FXN | c.69C>A (p.Thr23=) c.67C>A | |
| 9 | g.69035851C= | CA1854034957 | FXN | c.69C= (p.Thr23=) c.67C= | |
| 9 | g.69035851C>G | CA465233147 | FXN | c.69C>G (p.Thr23=) c.67C>G | gnomAD v4 |
| 9 | g.69035851C>T | CA465233146 | FXN | c.69C>T (p.Thr23=) c.67C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035852C>A | CA373527412 | FXN | c.70C>A (p.Leu24Ile) c.68C>A | gnomAD v4 |
| 9 | g.69035852C= | CA1854034958 | FXN | c.70C= (p.Leu24=) c.68C= | |
| 9 | g.69035852C>G | CA373527413 | FXN | c.70C>G (p.Leu24Val) c.68C>G | |
| 9 | g.69035852C>T | CA193368970 | FXN | c.70C>T (p.Leu24Phe) c.68C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69035853T>A | CA373527415 | FXN | c.71T>A (p.Leu24His) c.69T>A | |
| 9 | g.69035853T>C | CA373527417 | FXN | c.71T>C (p.Leu24Pro) c.69T>C | gnomAD v4 |
| 9 | g.69035853T>G | CA373527418 | FXN | c.71T>G (p.Leu24Arg) c.69T>G |