| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69035772_69035877del | CA2690187648 | FXN | c.-11_95del | 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 | 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 |