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