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