Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.69035772_69035877del | CA2690187648 | FXN | c.-11_95del | gnomAD v4 |
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.69035858del | CA2838265953 | FXN | c.76del (p.Arg26GlyfsTer?) c.74del | |
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 |
9 | g.69035864C>A | CA373527451 | FXN | c.82C>A (p.Pro28Thr) c.80C>A | gnomAD v4 |
9 | g.69035864C>G | CA373527452 | FXN | c.82C>G (p.Pro28Ala) c.80C>G | |
9 | g.69035864C>T | CA373527453 | FXN | c.82C>T (p.Pro28Ser) c.80C>T | gnomAD v4 |
9 | g.69035867_69035901del | CA2840950895 | FXN | c.85_119del (p.Arg29TrpfsTer?) c.85_119del (p.Arg29TrpfsTer17) c.83_117del c.85_119del (p.Arg29TrpfsTer18) | |
9 | g.69035865C>A | CA373527454 | FXN | c.83C>A (p.Pro28Gln) c.81C>A | gnomAD v4 |
9 | g.69035865C= | CA1854034967 | FXN | c.83C= (p.Pro28=) c.81C= | |
9 | g.69035865C>G | CA373527456 | FXN | c.83C>G (p.Pro28Arg) c.81C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035865C>T | CA373527458 | FXN | c.83C>T (p.Pro28Leu) c.81C>T | gnomAD v4 |
9 | g.69035866G>A | CA465233162 | FXN | c.84G>A (p.Pro28=) c.82G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035866G>C | CA465233161 | FXN | c.84G>C (p.Pro28=) c.82G>C | dbSNP |
9 | g.69035866G= | CA1854034968 | FXN | c.84G= (p.Pro28=) c.82G= | |
9 | g.69035866G>T | CA465233160 | FXN | c.84G>T (p.Pro28=) c.82G>T | gnomAD v4 |
9 | g.69035866_69035867insGGGGGGGGGGGGGGGG | CA2690187678 | FXN | c.84_85insGGGGGGGGGGGGGGGG (p.Arg29GlyfsTer?) c.84_85insGGGGGGGGGGGGGGGG (p.Arg29GlyfsTer34) c.82_83insGGGGGGGGGGGGGGGG c.84_85insGGGGGGGGGGGGGGGG (p.Arg29GlyfsTer35) | gnomAD v4 |
9 | g.69035866_69035867insGGGGGGGGGGGGGGGGG | CA2690187679 | FXN | c.84_85insGGGGGGGGGGGGGGGGG (p.Arg29GlyfsTer?) c.82_83insGGGGGGGGGGGGGGGGG | gnomAD v4 |
9 | g.69035866_69035867insGGGGGGGGGGGGGGGGGG | CA2690187680 | FXN | c.84_85insGGGGGGGGGGGGGGGGGG (p.Pro28_Arg29insGlyGlyGlyGlyGlyGly) c.82_83insGGGGGGGGGGGGGGGGGG | gnomAD v4 |
9 | g.69035867del | CA2840950896 | FXN | c.85del (p.Arg29GlyfsTer?) c.83del | |
9 | g.69035867C>A | CA465233163 | FXN | c.85C>A (p.Arg29=) c.83C>A | |
9 | g.69035867C>G | CA373527460 | FXN | c.85C>G (p.Arg29Gly) c.83C>G | dbSNP gnomAD v4 |
9 | g.69035867C>T | CA373527462 | FXN | c.85C>T (p.Arg29Trp) c.83C>T | gnomAD v4 |
9 | g.69035868G>A | CA373527463 | FXN | c.86G>A (p.Arg29Gln) c.84G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035868G>C | CA373527465 | FXN | c.86G>C (p.Arg29Pro) c.84G>C | gnomAD v4 |
9 | g.69035868G= | CA1854034969 | FXN | c.86G= (p.Arg29=) c.84G= | |
9 | g.69035868G>T | CA373527464 | FXN | c.86G>T (p.Arg29Leu) c.84G>T | dbSNP gnomAD v4 |
9 | g.69035869G>A | CA5072641 | FXN | c.87G>A (p.Arg29=) c.85G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035869G>C | CA465233165 | FXN | c.87G>C (p.Arg29=) c.85G>C | dbSNP gnomAD v4 |
9 | g.69035869G= | CA1854034970 | FXN | c.87G= (p.Arg29=) c.85G= | |
9 | g.69035869G>T | CA465233164 | FXN | c.87G>T (p.Arg29=) c.85G>T | gnomAD v4 |
9 | g.69035870C>A | CA373527466 | FXN | c.88C>A (p.Pro30Thr) c.86C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035870C= | CA1854034971 | FXN | c.88C= (p.Pro30=) c.86C= | |
9 | g.69035870C>G | CA373527467 | FXN | c.88C>G (p.Pro30Ala) c.86C>G | dbSNP gnomAD v4 |
9 | g.69035870C>T | CA373527469 | FXN | c.88C>T (p.Pro30Ser) c.86C>T | gnomAD v4 |
9 | g.69035871C>A | CA373527475 | FXN | c.89C>A (p.Pro30Gln) c.87C>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035871C= | CA1854034972 | FXN | c.89C= (p.Pro30=) c.87C= | |
9 | g.69035871C>G | CA373527478 | FXN | c.89C>G (p.Pro30Arg) c.87C>G | |
9 | g.69035871C>T | CA373527479 | FXN | c.89C>T (p.Pro30Leu) c.87C>T | dbSNP gnomAD v4 |
9 | g.69035872G>A | CA5072642 | FXN | c.90G>A (p.Pro30=) c.88G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035872G>C | CA193368982 | FXN | c.90G>C (p.Pro30=) c.88G>C | dbSNP gnomAD v4 |
9 | g.69035872G= | CA1854034973 | FXN | c.90G= (p.Pro30=) c.88G= | |
9 | g.69035872G>T | CA465233166 | FXN | c.90G>T (p.Pro30=) c.88G>T | gnomAD v4 |
9 | g.69035873del | CA2514643067 | FXN | c.91del (p.Ala31GlnfsTer?) c.89del | gnomAD v4 |
9 | g.69035873G>A | CA373527481 | FXN | c.91G>A (p.Ala31Thr) c.89G>A | gnomAD v4 |
9 | g.69035873G>C | CA373527483 | FXN | c.91G>C (p.Ala31Pro) c.89G>C | gnomAD v4 |
9 | g.69035873G>T | CA373527486 | FXN | c.91G>T (p.Ala31Ser) c.89G>T | gnomAD v4 |
9 | g.69035874C>A | CA373527493 | FXN | c.92C>A (p.Ala31Glu) c.90C>A | gnomAD v4 |
9 | g.69035874C>G | CA373527491 | FXN | c.92C>G (p.Ala31Gly) c.90C>G | dbSNP gnomAD v4 |
9 | g.69035874C>T | CA373527489 | FXN | c.92C>T (p.Ala31Val) c.90C>T | gnomAD v4 |
9 | g.69035875A>C | CA465233168 | FXN | c.93A>C (p.Ala31=) c.91A>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035875A>G | CA465233169 | FXN | c.93A>G (p.Ala31=) c.91A>G | gnomAD v4 |
9 | g.69035875A>T | CA465233167 | FXN | c.93A>T (p.Ala31=) c.91A>T | |
9 | g.69035876G>A | CA373527496 | FXN | c.94G>A (p.Glu32Lys) c.92G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035876G>C | CA193369007 | FXN | c.94G>C (p.Glu32Gln) c.92G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035876G= | CA1854034974 | FXN | c.94G= (p.Glu32=) c.92G= | |
9 | g.69035876G>T | CA373527498 | FXN | c.94G>T (p.Glu32Ter) c.92G>T | gnomAD v4 |
9 | g.69035877A>C | CA373527499 | FXN | c.95A>C (p.Glu32Ala) c.93A>C | gnomAD v4 |
9 | g.69035877A>G | CA373527500 | FXN | c.95A>G (p.Glu32Gly) c.93A>G | gnomAD v4 |
9 | g.69035877A>T | CA373527502 | FXN | c.95A>T (p.Glu32Val) c.93A>T | |
9 | g.69035878G>A | CA465233170 | FXN | c.96G>A (p.Glu32=) c.94G>A | gnomAD v4 |
9 | g.69035878G>C | CA373527503 | FXN | c.96G>C (p.Glu32Asp) c.94G>C | gnomAD v4 |
9 | g.69035878G>T | CA373527505 | FXN | c.96G>T (p.Glu32Asp) c.94G>T | gnomAD v4 |
9 | g.69035879T>A | CA373527508 | FXN | c.97T>A (p.Leu33Met) c.95T>A | |
9 | g.69035879T>C | CA465233171 | FXN | c.97T>C (p.Leu33=) c.95T>C | ClinVar dbSNP gnomAD v4 |
9 | g.69035879T>G | CA5072643 | FXN | c.97T>G (p.Leu33Val) c.95T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035879T= | CA1854034975 | FXN | c.97T= (p.Leu33=) c.95T= | |
9 | g.69035880T>A | CA373527520 | FXN | c.98T>A (p.Leu33Ter) c.96T>A | |
9 | g.69035880T>C | CA373527521 | FXN | c.98T>C (p.Leu33Ser) c.96T>C | |
9 | g.69035880T>G | CA373527523 | FXN | c.98T>G (p.Leu33Trp) c.96T>G | gnomAD v4 |
9 | g.69035880_69035881delinsTG | CA1854034976 | FXN | c.98_99delinsTG (p.Leu33=) c.96_97delinsTG | |
9 | g.69035881G>A | CA465233172 | FXN | c.99G>A (p.Leu33=) c.97G>A | gnomAD v4 |
9 | g.69035881G>C | CA373527524 | FXN | c.99G>C (p.Leu33Phe) c.97G>C | |
9 | g.69035881G>T | CA373527527 | FXN | c.99G>T (p.Leu33Phe) c.97G>T | gnomAD v4 |
9 | g.69035882del | CA193369008 | FXN | c.100del (p.Ala34ProfsTer?) c.98del | dbSNP gnomAD v4 |
9 | g.69035882G>A | CA373527529 | FXN | c.100G>A (p.Ala34Thr) c.98G>A | gnomAD v4 |
9 | g.69035882G>C | CA373527530 | FXN | c.100G>C (p.Ala34Pro) c.98G>C | gnomAD v4 |
9 | g.69035882G>T | CA373527532 | FXN | c.100G>T (p.Ala34Ser) c.98G>T | |
9 | g.69035882_69035883delinsGC | CA1854034977 | FXN | c.100_101delinsGC (p.Ala34=) c.98_99delinsGC | |
9 | g.69035883C>A | CA373527536 | FXN | c.101C>A (p.Ala34Asp) c.99C>A | gnomAD v4 |
9 | g.69035883C>G | CA373527537 | FXN | c.101C>G (p.Ala34Gly) c.99C>G | gnomAD v4 |
9 | g.69035883C>T | CA373527541 | FXN | c.101C>T (p.Ala34Val) c.99C>T | gnomAD v4 |
9 | g.69035886del | CA193369020 | FXN | c.104del (p.Pro35HisfsTer?) c.102del | dbSNP gnomAD v4 |
9 | g.69035884C>A | CA465233175 | FXN | c.102C>A (p.Ala34=) c.100C>A | |
9 | g.69035884C>G | CA465233173 | FXN | c.102C>G (p.Ala34=) c.100C>G | |
9 | g.69035884C>T | CA465233174 | FXN | c.102C>T (p.Ala34=) c.100C>T | gnomAD v4 |
9 | g.69035885C>A | CA373527542 | FXN | c.103C>A (p.Pro35Thr) c.101C>A | gnomAD v4 |
9 | g.69035885C>G | CA373527545 | FXN | c.103C>G (p.Pro35Ala) c.101C>G | |
9 | g.69035885C>T | CA373527546 | FXN | c.103C>T (p.Pro35Ser) c.101C>T | gnomAD v4 |
9 | g.69035885_69035886insA | CA2784519248 | FXN | c.103_104insA (p.Pro35HisfsTer?) c.103_104insA (p.Pro35HisfsTer23) c.101_102insA c.103_104insA (p.Pro35HisfsTer24) | |
9 | g.69035886C>A | CA373527549 | FXN | c.104C>A (p.Pro35Gln) c.102C>A | gnomAD v4 |
9 | g.69035886C= | CA1854034978 | FXN | c.104C= (p.Pro35=) c.102C= | |
9 | g.69035886C>G | CA373527551 | FXN | c.104C>G (p.Pro35Arg) c.102C>G | |
9 | g.69035886C>T | CA373527554 | FXN | c.104C>T (p.Pro35Leu) c.102C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035887A= | CA1854034979 | FXN | c.105A= (p.Pro35=) c.103A= | |
9 | g.69035887A>C | CA465233178 | FXN | c.105A>C (p.Pro35=) c.103A>C | ClinVar gnomAD v4 |
9 | g.69035887A>G | CA465233177 | FXN | c.105A>G (p.Pro35=) c.103A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035887A>T | CA465233176 | FXN | c.105A>T (p.Pro35=) c.103A>T | |
9 | g.69035888C>A | CA373527561 | FXN | c.106C>A (p.Leu36Ile) c.104C>A | gnomAD v4 |
9 | g.69035888C>G | CA373527564 | FXN | c.106C>G (p.Leu36Val) c.104C>G | gnomAD v4 |
9 | g.69035888C>T | CA373527559 | FXN | c.106C>T (p.Leu36Phe) c.104C>T | gnomAD v4 |
9 | g.69035889T>A | CA373527566 | FXN | c.107T>A (p.Leu36His) c.105T>A | dbSNP gnomAD v4 |
9 | g.69035889T>C | CA373527568 | FXN | c.107T>C (p.Leu36Pro) c.105T>C | gnomAD v4 |
9 | g.69035889T>G | CA373527570 | FXN | c.107T>G (p.Leu36Arg) c.105T>G | |
9 | g.69035890C>A | CA465233181 | FXN | c.108C>A (p.Leu36=) c.106C>A | dbSNP gnomAD v4 |
9 | g.69035890C= | CA1854034980 | FXN | c.108C= (p.Leu36=) c.106C= | |
9 | g.69035890C>G | CA465233179 | FXN | c.108C>G (p.Leu36=) c.106C>G | gnomAD v4 |
9 | g.69035890C>T | CA465233180 | FXN | c.108C>T (p.Leu36=) c.106C>T | gnomAD v4 |
9 | g.69035891T>A | CA373527574 | FXN | c.109T>A (p.Cys37Ser) c.107T>A | |
9 | g.69035891T>C | CA373527576 | FXN | c.109T>C (p.Cys37Arg) c.107T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035891T>G | CA373527577 | FXN | c.109T>G (p.Cys37Gly) c.107T>G | |
9 | g.69035891T= | CA1854034981 | FXN | c.109T= (p.Cys37=) c.107T= | |
9 | g.69035892G>A | CA373527580 | FXN | c.110G>A (p.Cys37Tyr) c.108G>A | gnomAD v4 |
9 | g.69035892G>C | CA373527585 | FXN | c.110G>C (p.Cys37Ser) c.108G>C | |
9 | g.69035892G>T | CA373527582 | FXN | c.110G>T (p.Cys37Phe) c.108G>T | gnomAD v4 |
9 | g.69035893C>A | CA373527587 | FXN | c.111C>A (p.Cys37Ter) c.109C>A | gnomAD v4 |
9 | g.69035893C>G | CA373527590 | FXN | c.111C>G (p.Cys37Trp) c.109C>G | gnomAD v4 |
9 | g.69035893C>T | CA465233182 | FXN | c.111C>T (p.Cys37=) c.109C>T | gnomAD v4 |
9 | g.69035893dup | CA2579347226 | FXN | c.111dup (p.Gly38ArgfsTer?) c.111dup (p.Gly38ArgfsTer20) c.109dup c.111dup (p.Gly38ArgfsTer21) | gnomAD v4 |
9 | g.69035894G>A | CA193369039 | FXN | c.112G>A (p.Gly38Ser) c.110G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035894G>C | CA373527593 | FXN | c.112G>C (p.Gly38Arg) c.110G>C | |
9 | g.69035894G= | CA1854034982 | FXN | c.112G= (p.Gly38=) c.110G= | |
9 | g.69035894G>T | CA193369045 | FXN | c.112G>T (p.Gly38Cys) c.110G>T | dbSNP gnomAD v4 |
9 | g.69035895G>A | CA373527600 | FXN | c.113G>A (p.Gly38Asp) c.111G>A | gnomAD v4 |
9 | g.69035895G>C | CA373527602 | FXN | c.113G>C (p.Gly38Ala) c.111G>C | gnomAD v4 |
9 | g.69035895G>T | CA373527597 | FXN | c.113G>T (p.Gly38Val) c.111G>T | gnomAD v4 |
9 | g.69035896C>A | CA465233184 | FXN | c.114C>A (p.Gly38=) c.112C>A | gnomAD v4 |
9 | g.69035896C>G | CA465233185 | FXN | c.114C>G (p.Gly38=) c.112C>G | |
9 | g.69035896C>T | CA465233183 | FXN | c.114C>T (p.Gly38=) c.112C>T | gnomAD v4 |
9 | g.69035897C>A | CA373527604 | FXN | c.115C>A (p.Arg39Ser) c.113C>A | gnomAD v4 |
9 | g.69035897C= | CA1854034983 | FXN | c.115C= (p.Arg39=) c.113C= | |
9 | g.69035897C>G | CA373527609 | FXN | c.115C>G (p.Arg39Gly) c.113C>G | |
9 | g.69035897C>T | CA193369050 | FXN | c.115C>T (p.Arg39Cys) c.113C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035898G>A | CA373527613 | FXN | c.116G>A (p.Arg39His) c.114G>A | dbSNP gnomAD v4 |
9 | g.69035898G>C | CA373527616 | FXN | c.116G>C (p.Arg39Pro) c.114G>C | gnomAD v4 |
9 | g.69035898G= | CA1854034985 | FXN | c.116G= (p.Arg39=) c.114G= | |
9 | g.69035898G>T | CA373527615 | FXN | c.116G>T (p.Arg39Leu) c.114G>T | dbSNP gnomAD v4 |
9 | g.69035898_69035899delinsGC | CA1854034984 | FXN | c.116_117delinsGC (p.Arg39=) c.114_115delinsGC | |
9 | g.69035899C>A | CA465233187 | FXN | c.117C>A (p.Arg39=) c.115C>A | |
9 | g.69035899C= | CA1854034986 | FXN | c.117C= (p.Arg39=) c.115C= | |
9 | g.69035899C>G | CA465233186 | FXN | c.117C>G (p.Arg39=) c.115C>G | gnomAD v4 |
9 | g.69035899C>T | CA193369078 | FXN | c.117C>T (p.Arg39=) c.115C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035900del | CA193369056 | FXN | c.118del (p.Arg40ValfsTer?) c.118del (p.Arg40ValfsTer27) c.116del | dbSNP |
9 | g.69035900C>A | CA373527618 | FXN | c.118C>A (p.Arg40Ser) c.116C>A | gnomAD v4 |
9 | g.69035900C= | CA1854034987 | FXN | c.118C= (p.Arg40=) c.116C= | |
9 | g.69035900C>G | CA373527622 | FXN | c.118C>G (p.Arg40Gly) c.116C>G | |
9 | g.69035900C>T | CA10587675 | FXN | c.118C>T (p.Arg40Cys) c.116C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035901G>A | CA373527628 | FXN | c.119G>A (p.Arg40His) c.117G>A | gnomAD v4 |
9 | g.69035901G>C | CA373527632 | FXN | c.119G>C (p.Arg40Pro) c.117G>C | |
9 | g.69035901G>T | CA373527630 | FXN | c.119G>T (p.Arg40Leu) c.117G>T | gnomAD v4 |
9 | g.69035902T>A | CA465233188 | FXN | c.120T>A (p.Arg40=) c.118T>A | |
9 | g.69035902T>C | CA465233190 | FXN | c.120T>C (p.Arg40=) c.118T>C | gnomAD v4 |
9 | g.69035902T>G | CA465233189 | FXN | c.120T>G (p.Arg40=) c.118T>G | dbSNP |
9 | g.69035903G>A | CA373527635 | FXN | c.121G>A (p.Gly41Ser) c.119G>A | dbSNP gnomAD v4 |
9 | g.69035903G>C | CA373527639 | FXN | c.121G>C (p.Gly41Arg) c.119G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035903G= | CA1854034988 | FXN | c.121G= (p.Gly41=) c.119G= | |
9 | g.69035903G>T | CA373527637 | FXN | c.121G>T (p.Gly41Cys) c.119G>T | gnomAD v4 |
9 | g.69035904G>A | CA373527641 | FXN | c.122G>A (p.Gly41Asp) c.120G>A | gnomAD v4 |
9 | g.69035904G>C | CA373527647 | FXN | c.122G>C (p.Gly41Ala) c.120G>C | |
9 | g.69035904G= | CA1854034989 | FXN | c.122G= (p.Gly41=) c.120G= | |
9 | g.69035904G>T | CA373527644 | FXN | c.122G>T (p.Gly41Val) c.120G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035905C>A | CA465233192 | FXN | c.123C>A (p.Gly41=) c.121C>A | gnomAD v4 |
9 | g.69035905C= | CA1854034990 | FXN | c.123C= (p.Gly41=) c.121C= | |
9 | g.69035905C>G | CA465233191 | FXN | c.123C>G (p.Gly41=) c.121C>G | |
9 | g.69035905C>T | CA16043768 | FXN | c.123C>T (p.Gly41=) c.121C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035906C>A | CA373527651 | FXN | c.124C>A (p.Leu42Met) c.122C>A | gnomAD v4 |
9 | g.69035906C>G | CA373527654 | FXN | c.124C>G (p.Leu42Val) c.122C>G | gnomAD v4 |
9 | g.69035906C>T | CA465233193 | FXN | c.124C>T (p.Leu42=) c.122C>T | gnomAD v4 |
9 | g.69035907T>A | CA373527656 | FXN | c.125T>A (p.Leu42Gln) c.123T>A | gnomAD v4 |
9 | g.69035907T>C | CA373527657 | FXN | c.125T>C (p.Leu42Pro) c.123T>C | gnomAD v4 |
9 | g.69035907T>G | CA193369082 | FXN | c.125T>G (p.Leu42Arg) c.123T>G | ClinVar dbSNP gnomAD v4 |
9 | g.69035907T= | CA1854034991 | FXN | c.125T= (p.Leu42=) c.123T= | |
9 | g.69035908G>A | CA465233196 | FXN | c.126G>A (p.Leu42=) c.124G>A | gnomAD v4 |
9 | g.69035908G>C | CA465233195 | FXN | c.126G>C (p.Leu42=) c.124G>C | |
9 | g.69035908G>T | CA465233194 | FXN | c.126G>T (p.Leu42=) c.124G>T | gnomAD v4 |
9 | g.69035909C>A | CA373527669 | FXN | c.127C>A (p.Arg43Ser) c.125C>A | gnomAD v4 |
9 | g.69035909C= | CA1854034992 | FXN | c.127C= (p.Arg43=) c.125C= | |
9 | g.69035909C>G | CA373527666 | FXN | c.127C>G (p.Arg43Gly) c.125C>G | |
9 | g.69035909C>T | CA373527661 | FXN | c.127C>T (p.Arg43Cys) c.125C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035912_69035936dup | CA2690187681 | FXN | c.130_154dup (p.Pro52HisfsTer?) c.130_154dup (p.Pro52HisfsTer14) c.128_152dup c.130_154dup (p.Pro52HisfsTer15) | gnomAD v4 |
9 | g.69035910G>A | CA5072644 | FXN | c.128G>A (p.Arg43His) c.126G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035910G>C | CA373527674 | FXN | c.128G>C (p.Arg43Pro) c.126G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035910G= | CA1854034993 | FXN | c.128G= (p.Arg43=) c.126G= | |
9 | g.69035910G>T | CA373527676 | FXN | c.128G>T (p.Arg43Leu) c.126G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035911C>A | CA465233199 | FXN | c.129C>A (p.Arg43=) c.127C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035911C= | CA1854034994 | FXN | c.129C= (p.Arg43=) c.127C= | |
9 | g.69035911C>G | CA465233198 | FXN | c.129C>G (p.Arg43=) c.127C>G | gnomAD v4 |
9 | g.69035911C>T | CA465233197 | FXN | c.129C>T (p.Arg43=) c.127C>T | |
9 | g.69035912A= | CA1854034995 | FXN | c.130A= (p.Thr44=) c.128A= | |
9 | g.69035912A>C | CA373527679 | FXN | c.130A>C (p.Thr44Pro) c.128A>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035912A>G | CA373527682 | FXN | c.130A>G (p.Thr44Ala) c.128A>G | |
9 | g.69035912A>T | CA373527683 | FXN | c.130A>T (p.Thr44Ser) c.128A>T | gnomAD v4 |
9 | g.69035913C>A | CA193369109 | FXN | c.131C>A (p.Thr44Asn) c.129C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035913C= | CA1854034996 | FXN | c.131C= (p.Thr44=) c.129C= | |
9 | g.69035913C>G | CA373527689 | FXN | c.131C>G (p.Thr44Ser) c.129C>G | gnomAD v4 |
9 | g.69035913C>T | CA373527687 | FXN | c.131C>T (p.Thr44Ile) c.129C>T | dbSNP |
9 | g.69035914C>A | CA465233201 | FXN | c.132C>A (p.Thr44=) c.130C>A | dbSNP gnomAD v4 |
9 | g.69035914C= | CA1854034997 | FXN | c.132C= (p.Thr44=) c.130C= | |
9 | g.69035914C>G | CA465233200 | FXN | c.132C>G (p.Thr44=) c.130C>G | gnomAD v4 |
9 | g.69035914C>T | CA465233202 | FXN | c.132C>T (p.Thr44=) c.130C>T | dbSNP gnomAD v4 |
9 | g.69035918_69035928dup | CA16622137 | FXN | c.136_146dup (p.Cys50SerfsTer30) c.136_146dup (p.Cys50SerfsTer21) c.134_144dup c.136_146dup (p.Cys50SerfsTer?) | |
9 | g.69035915G>A | CA5072645 | FXN | c.133G>A (p.Asp45Asn) c.131G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035915G>C | CA373527692 | FXN | c.133G>C (p.Asp45His) c.131G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035915G= | CA1854034998 | FXN | c.133G= (p.Asp45=) c.131G= | |
9 | g.69035915G>T | CA373527694 | FXN | c.133G>T (p.Asp45Tyr) c.131G>T | gnomAD v4 |
9 | g.69035916A>C | CA373527696 | FXN | c.134A>C (p.Asp45Ala) c.132A>C | |
9 | g.69035916A>G | CA373527697 | FXN | c.134A>G (p.Asp45Gly) c.132A>G | dbSNP gnomAD v4 |
9 | g.69035916A>T | CA373527699 | FXN | c.134A>T (p.Asp45Val) c.132A>T | |
9 | g.69035917C>A | CA373527701 | FXN | c.135C>A (p.Asp45Glu) c.133C>A | gnomAD v4 |
9 | g.69035917C>G | CA373527703 | FXN | c.135C>G (p.Asp45Glu) c.133C>G | |
9 | g.69035917C>T | CA465233203 | FXN | c.135C>T (p.Asp45=) c.133C>T | gnomAD v4 |
9 | g.69035918A= | CA1854034999 | FXN | c.136A= (p.Ile46=) c.134A= | |
9 | g.69035918A>C | CA373527705 | FXN | c.136A>C (p.Ile46Leu) c.134A>C | |
9 | g.69035918A>G | CA373527707 | FXN | c.136A>G (p.Ile46Val) c.134A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035918A>T | CA373527709 | FXN | c.136A>T (p.Ile46Phe) c.134A>T | gnomAD v4 |
9 | g.69035919T>A | CA373527711 | FXN | c.137T>A (p.Ile46Asn) c.135T>A | dbSNP |
9 | g.69035919T>C | CA373527715 | FXN | c.137T>C (p.Ile46Thr) c.135T>C | dbSNP |
9 | g.69035919T>G | CA373527712 | FXN | c.137T>G (p.Ile46Ser) c.135T>G | dbSNP gnomAD v4 |
9 | g.69035919T= | CA1854035000 | FXN | c.137T= (p.Ile46=) c.135T= | |
9 | g.69035920C>A | CA465233204 | FXN | c.138C>A (p.Ile46=) c.136C>A | gnomAD v4 |
9 | g.69035920C= | CA1854035001 | FXN | c.138C= (p.Ile46=) c.136C= | |
9 | g.69035920C>G | CA5072646 | FXN | c.138C>G (p.Ile46Met) c.136C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035920C>T | CA5072647 | FXN | c.138C>T (p.Ile46=) c.136C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035921G>A | CA373527717 | FXN | c.139G>A (p.Asp47Asn) c.137G>A | gnomAD v4 |
9 | g.69035921G>C | CA373527718 | FXN | c.139G>C (p.Asp47His) c.137G>C | |
9 | g.69035921G>T | CA373527721 | FXN | c.139G>T (p.Asp47Tyr) c.137G>T | gnomAD v4 |
9 | g.69035922A>C | CA373527723 | FXN | c.140A>C (p.Asp47Ala) c.138A>C | |
9 | g.69035922A>G | CA373527725 | FXN | c.140A>G (p.Asp47Gly) c.138A>G | |
9 | g.69035922A>T | CA373527728 | FXN | c.140A>T (p.Asp47Val) c.138A>T | |
9 | g.69035923T>A | CA373527733 | FXN | c.141T>A (p.Asp47Glu) c.139T>A | |
9 | g.69035923T>C | CA465233205 | FXN | c.141T>C (p.Asp47=) c.139T>C | gnomAD v4 |
9 | g.69035923T>G | CA373527736 | FXN | c.141T>G (p.Asp47Glu) c.139T>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035923T= | CA1854035002 | FXN | c.141T= (p.Asp47=) c.139T= | |
9 | g.69035924G>A | CA373527737 | FXN | c.142G>A (p.Ala48Thr) c.140G>A | dbSNP gnomAD v4 |
9 | g.69035924G>C | CA373527739 | FXN | c.142G>C (p.Ala48Pro) c.140G>C | |
9 | g.69035924G= | CA1854035003 | FXN | c.142G= (p.Ala48=) c.140G= | |
9 | g.69035924G>T | CA373527742 | FXN | c.142G>T (p.Ala48Ser) c.140G>T | |
9 | g.69035925C>A | CA373527745 | FXN | c.143C>A (p.Ala48Glu) c.141C>A | gnomAD v4 |
9 | g.69035925C= | CA1854035004 | FXN | c.143C= (p.Ala48=) c.141C= | |
9 | g.69035925C>G | CA373527749 | FXN | c.143C>G (p.Ala48Gly) c.141C>G | gnomAD v4 |
9 | g.69035925C>T | CA373527748 | FXN | c.143C>T (p.Ala48Val) c.141C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035926G>A | CA465233207 | FXN | c.144G>A (p.Ala48=) c.142G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035926G>C | CA193369142 | FXN | c.144G>C (p.Ala48=) c.142G>C | dbSNP gnomAD v4 |
9 | g.69035926G= | CA1854035005 | FXN | c.144G= (p.Ala48=) c.142G= | |
9 | g.69035926G>T | CA465233206 | FXN | c.144G>T (p.Ala48=) c.142G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035927A= | CA1854035006 | FXN | c.145A= (p.Thr49=) c.143A= | |
9 | g.69035927A>C | CA373527752 | FXN | c.145A>C (p.Thr49Pro) c.143A>C | dbSNP |
9 | g.69035927A>G | CA373527753 | FXN | c.145A>G (p.Thr49Ala) c.143A>G | |
9 | g.69035927A>T | CA373527755 | FXN | c.145A>T (p.Thr49Ser) c.143A>T | gnomAD v4 |
9 | g.69035928C>A | CA193369153 | FXN | c.146C>A (p.Thr49Asn) c.144C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035928C= | CA1854035007 | FXN | c.146C= (p.Thr49=) c.144C= | |
9 | g.69035928C>G | CA373527758 | FXN | c.146C>G (p.Thr49Ser) c.144C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035928C>T | CA373527759 | FXN | c.146C>T (p.Thr49Ile) c.144C>T | gnomAD v4 |
9 | g.69035929C>A | CA465233210 | FXN | c.147C>A (p.Thr49=) c.145C>A | gnomAD v4 |
9 | g.69035929C>G | CA465233208 | FXN | c.147C>G (p.Thr49=) c.145C>G | |
9 | g.69035929C>T | CA465233209 | FXN | c.147C>T (p.Thr49=) c.145C>T | gnomAD v4 |
9 | g.69035930T>A | CA373527761 | FXN | c.148T>A (p.Cys50Ser) c.146T>A | |
9 | g.69035930T>C | CA373527763 | FXN | c.148T>C (p.Cys50Arg) c.146T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035930T>G | CA373527766 | FXN | c.148T>G (p.Cys50Gly) c.146T>G | gnomAD v4 |
9 | g.69035930T= | CA1854035008 | FXN | c.148T= (p.Cys50=) c.146T= | |
9 | g.69035931G>A | CA373527771 | FXN | c.149G>A (p.Cys50Tyr) c.147G>A | dbSNP gnomAD v4 |
9 | g.69035931G>C | CA373527768 | FXN | c.149G>C (p.Cys50Ser) c.147G>C | gnomAD v4 |
9 | g.69035931G= | CA1854035009 | FXN | c.149G= (p.Cys50=) c.147G= | |
9 | g.69035931G>T | CA373527767 | FXN | c.149G>T (p.Cys50Phe) c.147G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035932C>A | CA373527774 | FXN | c.150C>A (p.Cys50Ter) c.148C>A | gnomAD v4 |
9 | g.69035932C>G | CA373527775 | FXN | c.150C>G (p.Cys50Trp) c.148C>G | gnomAD v4 |
9 | g.69035932C>T | CA465233211 | FXN | c.150C>T (p.Cys50=) c.148C>T | gnomAD v4 |
9 | g.69035933A= | CA1854035010 | FXN | c.151A= (p.Thr51=) c.149A= | |
9 | g.69035933A>C | CA373527778 | FXN | c.151A>C (p.Thr51Pro) c.149A>C | gnomAD v4 |
9 | g.69035933A>G | CA373527780 | FXN | c.151A>G (p.Thr51Ala) c.149A>G | dbSNP gnomAD v4 |
9 | g.69035933A>T | CA373527782 | FXN | c.151A>T (p.Thr51Ser) c.149A>T | |
9 | g.69035934C>A | CA373527785 | FXN | c.152C>A (p.Thr51Lys) c.150C>A | gnomAD v4 |
9 | g.69035934C= | CA1854035011 | FXN | c.152C= (p.Thr51=) c.150C= | |
9 | g.69035934C>G | CA373527786 | FXN | c.152C>G (p.Thr51Arg) c.150C>G | ClinVar gnomAD v4 |
9 | g.69035934C>T | CA373527788 | FXN | c.152C>T (p.Thr51Met) c.150C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035935G>A | CA465233212 | FXN | c.153G>A (p.Thr51=) c.151G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035935G>C | CA465233213 | FXN | c.153G>C (p.Thr51=) c.151G>C | |
9 | g.69035935G= | CA1854035013 | FXN | c.153G= (p.Thr51=) c.151G= | |
9 | g.69035935G>T | CA465233214 | FXN | c.153G>T (p.Thr51=) c.151G>T | gnomAD v4 |
9 | g.69035935_69035936delinsGC | CA1854035012 | FXN | c.153_154delinsGC (p.Thr51=) c.151_152delinsGC | |
9 | g.69035936C>A | CA373527791 | FXN | c.154C>A (p.Pro52Thr) c.152C>A | dbSNP gnomAD v4 |
9 | g.69035936C= | CA1854035014 | FXN | c.154C= (p.Pro52=) c.152C= | |
9 | g.69035936C>G | CA373527794 | FXN | c.154C>G (p.Pro52Ala) c.152C>G | |
9 | g.69035936C>T | CA193369170 | FXN | c.154C>T (p.Pro52Ser) c.152C>T | dbSNP gnomAD v4 |
9 | g.69035939dup | CA193369163 | FXN | c.157dup (p.Arg53ProfsTer?) c.157dup (p.Arg53ProfsTer5) c.155dup c.157dup (p.Arg53ProfsTer6) | dbSNP |
9 | g.69035939del | CA10575483 | FXN | c.157del (p.Arg53AlafsTer23) c.157del (p.Arg53AlafsTer14) c.155del c.157del (p.Arg53AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035937C>A | CA373527795 | FXN | c.155C>A (p.Pro52His) c.153C>A | gnomAD v4 |
9 | g.69035937C= | CA1854035015 | FXN | c.155C= (p.Pro52=) c.153C= | |
9 | g.69035937C>G | CA373527800 | FXN | c.155C>G (p.Pro52Arg) c.153C>G | |
9 | g.69035937C>T | CA193369173 | FXN | c.155C>T (p.Pro52Leu) c.153C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035938C>A | CA465233216 | FXN | c.156C>A (p.Pro52=) c.154C>A | gnomAD v4 |
9 | g.69035938C>G | CA465233215 | FXN | c.156C>G (p.Pro52=) c.154C>G | |
9 | g.69035938C>T | CA465233217 | FXN | c.156C>T (p.Pro52=) c.154C>T | gnomAD v4 |
9 | g.69035939C>A | CA373527807 | FXN | c.157C>A (p.Arg53Ser) c.155C>A | dbSNP gnomAD v4 |
9 | g.69035939C>G | CA373527804 | FXN | c.157C>G (p.Arg53Gly) c.155C>G | |
9 | g.69035939C>T | CA373527806 | FXN | c.157C>T (p.Arg53Cys) c.155C>T | gnomAD v4 |
9 | g.69035940G>A | CA373527809 | FXN | c.158G>A (p.Arg53His) c.156G>A | dbSNP gnomAD v4 |
9 | g.69035940G>C | CA373527812 | FXN | c.158G>C (p.Arg53Pro) c.156G>C | gnomAD v4 |
9 | g.69035940G= | CA1854035016 | FXN | c.158G= (p.Arg53=) c.156G= | |
9 | g.69035940G>T | CA193369175 | FXN | c.158G>T (p.Arg53Leu) c.156G>T | dbSNP gnomAD v4 |
9 | g.69035941C>A | CA465233218 | FXN | c.159C>A (p.Arg53=) c.157C>A | gnomAD v4 |
9 | g.69035941C= | CA1854035017 | FXN | c.159C= (p.Arg53=) c.157C= | |
9 | g.69035941C>G | CA465233219 | FXN | c.159C>G (p.Arg53=) c.157C>G | |
9 | g.69035941C>T | CA193369177 | FXN | c.159C>T (p.Arg53=) c.157C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035942C>A | CA373527816 | FXN | c.160C>A (p.Arg54Ser) c.158C>A | gnomAD v4 |
9 | g.69035942C= | CA1854035018 | FXN | c.160C= (p.Arg54=) c.158C= | |
9 | g.69035942C>G | CA373527818 | FXN | c.160C>G (p.Arg54Gly) c.158C>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035942C>T | CA193369187 | FXN | c.160C>T (p.Arg54Cys) c.158C>T | dbSNP gnomAD v4 |
9 | g.69035943G>A | CA193369199 | FXN | c.161G>A (p.Arg54His) c.159G>A | dbSNP gnomAD v4 |
9 | g.69035943G>C | CA373527824 | FXN | c.161G>C (p.Arg54Pro) c.159G>C | |
9 | g.69035943G= | CA1854035019 | FXN | c.161G= (p.Arg54=) c.159G= | |
9 | g.69035943G>T | CA373527827 | FXN | c.161G>T (p.Arg54Leu) c.159G>T | gnomAD v4 |
9 | g.69035944C>A | CA465233220 | FXN | c.162C>A (p.Arg54=) c.160C>A | gnomAD v4 |
9 | g.69035944C= | CA1854035020 | FXN | c.162C= (p.Arg54=) c.160C= | |
9 | g.69035944C>G | CA465233221 | FXN | c.162C>G (p.Arg54=) c.160C>G | |
9 | g.69035944C>T | CA193369207 | FXN | c.162C>T (p.Arg54=) c.160C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035945G>A | CA373527835 | FXN | c.163G>A (p.Ala55Thr) c.161G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035945G>C | CA373527832 | FXN | c.163G>C (p.Ala55Pro) c.161G>C | gnomAD v4 |
9 | g.69035945G= | CA1854035021 | FXN | c.163G= (p.Ala55=) c.161G= | |
9 | g.69035945G>T | CA373527830 | FXN | c.163G>T (p.Ala55Ser) c.161G>T | gnomAD v4 |
9 | g.69035946C>A | CA373527837 | FXN | c.164C>A (p.Ala55Glu) c.162C>A | gnomAD v4 |
9 | g.69035946C>G | CA373527840 | FXN | c.164C>G (p.Ala55Gly) c.162C>G | |
9 | g.69035946C>T | CA373527842 | FXN | c.164C>T (p.Ala55Val) c.162C>T | |
9 | g.69035947A= | CA1854035022 | FXN | c.165A= (p.Ala55=) c.163A= | |
9 | g.69035947A>C | CA465233224 | FXN | c.165A>C (p.Ala55=) c.163A>C | |
9 | g.69035947A>G | CA465233222 | FXN | c.165A>G (p.Ala55=) c.163A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.69035947A>T | CA465233223 | FXN | c.165A>T (p.Ala55=) c.163A>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035948G>A | CA373527844 | FXN | c.165+1G>A (n.165+1G>A) c.163+1G>A | gnomAD v4 |
9 | g.69035948G>C | CA373527845 | FXN | c.165+1G>C (n.165+1G>C) c.163+1G>C | |
9 | g.69035948G= | CA1854035023 | FXN | c.165+1G= (n.165+1G=) c.163+1G= | |
9 | g.69035948G>T | CA373527846 | FXN | c.165+1G>T (n.165+1G>T) c.163+1G>T | gnomAD v4 |
9 | g.69035949T>A | CA373527848 | FXN | c.165+2T>A (n.165+2T>A) c.163+2T>A | |
9 | g.69035949T>C | CA373527851 | FXN | c.165+2T>C (n.165+2T>C) c.163+2T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035949T>G | CA373527854 | FXN | c.165+2T>G (n.165+2T>G) c.163+2T>G | |
9 | g.69035949T= | CA1854035024 | FXN | c.165+2T= (n.165+2T=) c.163+2T= | |
9 | g.69035949_69035950insTT | CA891842757 | FXN | c.165+2_165+3insTT (n.165+2_165+3insTT) c.163+2_163+3insTT | ClinVar dbSNP |
9 | g.69035949dup | CA1854035025 | FXN | c.165+2dup (n.165+2dup) c.163+2dup | dbSNP |
9 | g.69035950A= | CA1854035026 | FXN | c.165+3A= (n.165+3A=) c.163+3A= | |
9 | g.69035950A>G | CA866340586 | FXN | c.165+3A>G (n.165+3A>G) c.163+3A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.69035951dup | CA866340585 | FXN | c.165+4dup (n.165+4dup) c.163+4dup | dbSNP |
9 | g.69035951A>G | CA2690187682 | FXN | c.165+4A>G (n.165+4A>G) c.163+4A>G | gnomAD v4 |
9 | g.69035951A>T | CA2690187683 | FXN | c.165+4A>T (n.165+4A>T) c.163+4A>T | gnomAD v4 |
9 | g.69035952G>A | CA5072648 | FXN | c.165+5G>A (n.165+5G>A) c.163+5G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.69035952G>C | CA193369220 | FXN | c.165+5G>C (n.165+5G>C) c.163+5G>C | dbSNP gnomAD v4 |
9 | g.69035952G= | CA1854035027 | FXN | c.165+5G= (n.165+5G=) c.163+5G= | |
9 | g.69035953_69035958dup | CA2690187684 | FXN | c.165+6_165+11dup (n.165+6_165+11dup) c.163+6_163+11dup | gnomAD v4 |
9 | g.69035953T>A | CA2690187685 | FXN | c.165+6T>A (n.165+6T>A) c.163+6T>A | gnomAD v4 |
9 | g.69035953T>C | CA588647902 | FXN | c.165+6T>C (n.165+6T>C) c.163+6T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.69035953T>G | CA2784519249 | FXN | c.165+6T>G (n.165+6T>G) c.163+6T>G | |
9 | g.69035953T= | CA1854035028 | FXN | c.165+6T= (n.165+6T=) c.163+6T= | |
9 | g.69035954A>C | CA2784519250 | FXN | c.165+7A>C (n.165+7A>C) c.163+7A>C | |
9 | g.69035954A>G | CA2690187686 | FXN | c.165+7A>G (n.165+7A>G) c.163+7A>G | gnomAD v4 |
9 | g.69035955T>C | CA2690187687 | FXN | c.165+8T>C (n.165+8T>C) c.163+8T>C | gnomAD v4 |
9 | g.69035955T>G | CA2690187688 | FXN | c.165+8T>G (n.165+8T>G) c.163+8T>G | gnomAD v4 |