Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.69035772_69035877del | CA2690187648 | FXN | c.-11_95del | gnomAD v4 |
9 | g.69035847_69035852dup | CA1125110218 | FXN | c.65_70dup (p.Thr23_Leu24insGlnThr) c.63_68dup | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035848_69035853dup | CA588647901 | FXN | c.66_71dup (p.Leu24_Thr25insThrLeu) c.64_69dup | dbSNP gnomAD v2 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 | |
9 | g.69035854del | CA2690187676 | FXN | c.72del (p.Thr25ProfsTer?) c.70del | gnomAD v4 |
9 | g.69035854C>A | CA465233148 | FXN | c.72C>A (p.Leu24=) c.70C>A | gnomAD v4 |
9 | g.69035854C= | CA1854034959 | FXN | c.72C= (p.Leu24=) c.70C= | |
9 | g.69035854C>G | CA465233149 | FXN | c.72C>G (p.Leu24=) c.70C>G | |
9 | g.69035854C>T | CA465233150 | FXN | c.72C>T (p.Leu24=) c.70C>T | dbSNP |
9 | g.69035855A= | CA1854034960 | FXN | c.73A= (p.Thr25=) c.71A= | |
9 | g.69035855A>C | CA373527420 | FXN | c.73A>C (p.Thr25Pro) c.71A>C | gnomAD v4 |
9 | g.69035855A>G | CA373527422 | FXN | c.73A>G (p.Thr25Ala) c.71A>G | dbSNP gnomAD v4 |
9 | g.69035855A>T | CA373527424 | FXN | c.73A>T (p.Thr25Ser) c.71A>T | |
9 | g.69035856C>A | CA373527427 | FXN | c.74C>A (p.Thr25Asn) c.72C>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035856C= | CA1854034961 | FXN | c.74C= (p.Thr25=) c.72C= | |
9 | g.69035856C>G | CA373527429 | FXN | c.74C>G (p.Thr25Ser) c.72C>G | |
9 | g.69035856C>T | CA373527431 | FXN | c.74C>T (p.Thr25Ile) c.72C>T | gnomAD v4 |
9 | g.69035857C>A | CA465233151 | FXN | c.75C>A (p.Thr25=) c.73C>A | |
9 | g.69035857C>G | CA465233152 | FXN | c.75C>G (p.Thr25=) c.73C>G | |
9 | g.69035857C>T | CA465233153 | FXN | c.75C>T (p.Thr25=) c.73C>T | gnomAD v4 |
9 | g.69035858C>A | CA5072640 | FXN | c.76C>A (p.Arg26=) c.74C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035858C= | CA1854034962 | FXN | c.76C= (p.Arg26=) c.74C= | |
9 | g.69035858C>G | CA373527433 | FXN | c.76C>G (p.Arg26Gly) c.74C>G | gnomAD v4 |
9 | g.69035858C>T | CA373527435 | FXN | c.76C>T (p.Arg26Trp) c.74C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035859G>A | CA373527439 | FXN | c.77G>A (p.Arg26Gln) c.75G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035859G>C | CA373527437 | FXN | c.77G>C (p.Arg26Pro) c.75G>C | gnomAD v4 |
9 | g.69035859G= | CA1854034963 | FXN | c.77G= (p.Arg26=) c.75G= | |
9 | g.69035859G>T | CA373527438 | FXN | c.77G>T (p.Arg26Leu) c.75G>T | gnomAD v4 |
9 | g.69035861del | CA2690187677 | FXN | c.79del (p.Val27SerfsTer?) c.77del | gnomAD v4 |
9 | g.69035860G>A | CA465233155 | FXN | c.78G>A (p.Arg26=) c.76G>A | gnomAD v4 |
9 | g.69035860G>C | CA465233154 | FXN | c.78G>C (p.Arg26=) c.76G>C | gnomAD v4 |
9 | g.69035860G= | CA1854034964 | FXN | c.78G= (p.Arg26=) c.76G= | |
9 | g.69035860G>T | CA465233156 | FXN | c.78G>T (p.Arg26=) c.76G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035861G>A | CA373527441 | FXN | c.79G>A (p.Val27Ile) c.77G>A | gnomAD v4 |
9 | g.69035861G>C | CA373527443 | FXN | c.79G>C (p.Val27Leu) c.77G>C | |
9 | g.69035861G= | CA1854034965 | FXN | c.79G= (p.Val27=) c.77G= | |
9 | g.69035861G>T | CA373527445 | FXN | c.79G>T (p.Val27Phe) c.77G>T | dbSNP gnomAD v4 |
9 | g.69035862T>A | CA373527447 | FXN | c.80T>A (p.Val27Asp) c.78T>A | |
9 | g.69035862T>C | CA373527448 | FXN | c.80T>C (p.Val27Ala) c.78T>C | gnomAD v4 |
9 | g.69035862T>G | CA373527450 | FXN | c.80T>G (p.Val27Gly) c.78T>G | |
9 | g.69035863C>A | CA465233159 | FXN | c.81C>A (p.Val27=) c.79C>A | gnomAD v4 |
9 | g.69035863C= | CA1854034966 | FXN | c.81C= (p.Val27=) c.79C= | |
9 | g.69035863C>G | CA465233157 | FXN | c.81C>G (p.Val27=) c.79C>G | |
9 | g.69035863C>T | CA465233158 | FXN | c.81C>T (p.Val27=) c.79C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |