Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.69035772_69035877del | CA2690187648 | FXN | c.-11_95del | gnomAD v4 |
9 | g.69035793_69035794del | CA10587673 | FXN | c.11_12del (p.Leu4ArgfsTer?) c.9_10del | ClinVar dbSNP gnomAD v4 |
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 |