WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.69053147G>A | CA373529858 | FXN | c.46G>A (p.Asp16Asn) c.271G>A (p.Asp91Asn) c.165+17200G>A (n.165+17200G>A) c.269G>A c.263+6665G>A (n.263+6665G>A) c.173G>A (p.Arg58Lys) c.76+6665G>A | |
| 9 | g.69053147G>C | CA5072702 | FXN | c.46G>C (p.Asp16His) c.271G>C (p.Asp91His) c.165+17200G>C (n.165+17200G>C) c.269G>C c.263+6665G>C (n.263+6665G>C) c.173G>C (p.Arg58Thr) c.76+6665G>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 9 | g.69053147G= | CA1854042847 | FXN | c.46G= (p.Asp16=) c.271G= (p.Asp91=) c.165+17200G= (n.165+17200G=) c.269G= c.263+6665G= (n.263+6665G=) c.173G= (p.Arg58=) c.76+6665G= | |
| 9 | g.69053147G>T | CA373529859 | FXN | c.46G>T (p.Asp16Tyr) c.271G>T (p.Asp91Tyr) c.165+17200G>T (n.165+17200G>T) c.269G>T c.263+6665G>T (n.263+6665G>T) c.173G>T (p.Arg58Ile) c.76+6665G>T | |
| 9 | g.69053148A>C | CA373529860 | FXN | c.47A>C (p.Asp16Ala) c.272A>C (p.Asp91Ala) c.165+17201A>C (n.165+17201A>C) c.270A>C c.263+6666A>C (n.263+6666A>C) c.174A>C (p.Arg58Ser) c.76+6666A>C | |
| 9 | g.69053148A>G | CA373529861 | FXN | c.47A>G (p.Asp16Gly) c.272A>G (p.Asp91Gly) c.165+17201A>G (n.165+17201A>G) c.270A>G c.263+6666A>G (n.263+6666A>G) c.174A>G (p.Arg58=) c.76+6666A>G | gnomAD v4 |
| 9 | g.69053148A>T | CA373529862 | FXN | c.47A>T (p.Asp16Val) c.272A>T (p.Asp91Val) c.165+17201A>T (n.165+17201A>T) c.270A>T c.263+6666A>T (n.263+6666A>T) c.174A>T (p.Arg58Ser) c.76+6666A>T | |
| 9 | g.69053149T>A | CA373529863 | FXN | c.48T>A (p.Asp16Glu) c.273T>A (p.Asp91Glu) c.165+17202T>A (n.165+17202T>A) c.271T>A c.263+6667T>A (n.263+6667T>A) c.175T>A (p.Ter59Arg) c.76+6667T>A | |
| 9 | g.69053149T>C | CA5072703 | FXN | c.48T>C (p.Asp16=) c.273T>C (p.Asp91=) c.165+17202T>C (n.165+17202T>C) c.271T>C c.263+6667T>C (n.263+6667T>C) c.175T>C (p.Ter59Arg) c.76+6667T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.69053149T>G | CA373529864 | FXN | c.48T>G (p.Asp16Glu) c.273T>G (p.Asp91Glu) c.165+17202T>G (n.165+17202T>G) c.271T>G c.263+6667T>G (n.263+6667T>G) c.175T>G (p.Ter59Gly) c.76+6667T>G | |
| 9 | g.69053149T= | CA1854042848 | FXN | c.48T= (p.Asp16=) c.273T= (p.Asp91=) c.165+17202T= (n.165+17202T=) c.271T= c.263+6667T= (n.263+6667T=) c.175T= (p.Ter59=) c.76+6667T= | |
| 9 | g.69053150G>A | CA373529865 | FXN | c.49G>A (p.Glu17Lys) c.274G>A (p.Glu92Lys) c.165+17203G>A (n.165+17203G>A) c.272G>A c.263+6668G>A (n.263+6668G>A) c.176G>A (p.Ter59=) c.76+6668G>A | dbSNP |
| 9 | g.69053150G>C | CA373529866 | FXN | c.49G>C (p.Glu17Gln) c.274G>C (p.Glu92Gln) c.165+17203G>C (n.165+17203G>C) c.272G>C c.263+6668G>C (n.263+6668G>C) c.176G>C (p.Ter59Ser) c.76+6668G>C | |
| 9 | g.69053150G= | CA1854042849 | FXN | c.49G= (p.Glu17=) c.274G= (p.Glu92=) c.165+17203G= (n.165+17203G=) c.272G= c.263+6668G= (n.263+6668G=) c.176G= (p.Ter59=) c.76+6668G= | |
| 9 | g.69053150G>T | CA373529867 | FXN | c.49G>T (p.Glu17Ter) c.274G>T (p.Glu92Ter) c.165+17203G>T (n.165+17203G>T) c.272G>T c.263+6668G>T (n.263+6668G>T) c.176G>T (p.Ter59Leu) c.76+6668G>T | |
| 9 | g.69053151A>C | CA373529870 | FXN | c.50A>C (p.Glu17Ala) c.275A>C (p.Glu92Ala) c.165+17204A>C (n.165+17204A>C) c.273A>C c.263+6669A>C (n.263+6669A>C) c.177A>C (p.Ter59Cys) c.76+6669A>C | |
| 9 | g.69053151A>G | CA373529869 | FXN | c.50A>G (p.Glu17Gly) c.275A>G (p.Glu92Gly) c.165+17204A>G (n.165+17204A>G) c.273A>G c.263+6669A>G (n.263+6669A>G) c.177A>G (p.Ter59Trp) c.76+6669A>G | |
| 9 | g.69053151A>T | CA373529868 | FXN | c.50A>T (p.Glu17Val) c.275A>T (p.Glu92Val) c.165+17204A>T (n.165+17204A>T) c.273A>T c.263+6669A>T (n.263+6669A>T) c.177A>T (p.Ter59Cys) c.76+6669A>T | |
| 9 | g.69053152G>A | CA465233486 | FXN | c.51G>A (p.Glu17=) c.276G>A (p.Glu92=) c.165+17205G>A (n.165+17205G>A) c.274G>A c.263+6670G>A (n.263+6670G>A) c.*1G>A (n.*1G>A) c.76+6670G>A | |
| 9 | g.69053152G>C | CA373529871 | FXN | c.51G>C (p.Glu17Asp) c.276G>C (p.Glu92Asp) c.165+17205G>C (n.165+17205G>C) c.274G>C c.263+6670G>C (n.263+6670G>C) c.*1G>C (n.*1G>C) c.76+6670G>C | |
| 9 | g.69053152G>T | CA373529872 | FXN | c.51G>T (p.Glu17Asp) c.276G>T (p.Glu92Asp) c.165+17205G>T (n.165+17205G>T) c.274G>T c.263+6670G>T (n.263+6670G>T) c.*1G>T (n.*1G>T) c.76+6670G>T | gnomAD v4 |
| 9 | g.69053153A>C | CA373529873 | FXN | c.52A>C (p.Thr18Pro) c.277A>C (p.Thr93Pro) c.165+17206A>C (n.165+17206A>C) c.275A>C c.263+6671A>C (n.263+6671A>C) c.*2A>C (n.*2A>C) c.76+6671A>C | |
| 9 | g.69053153A>G | CA373529875 | FXN | c.52A>G (p.Thr18Ala) c.277A>G (p.Thr93Ala) c.165+17206A>G (n.165+17206A>G) c.275A>G c.263+6671A>G (n.263+6671A>G) c.*2A>G (n.*2A>G) c.76+6671A>G | |
| 9 | g.69053153A>T | CA373529874 | FXN | c.52A>T (p.Thr18Ser) c.277A>T (p.Thr93Ser) c.165+17206A>T (n.165+17206A>T) c.275A>T c.263+6671A>T (n.263+6671A>T) c.*2A>T (n.*2A>T) c.76+6671A>T | |
| 9 | g.69053154C>A | CA373529876 | FXN | c.53C>A (p.Thr18Asn) c.278C>A (p.Thr93Asn) c.165+17207C>A (n.165+17207C>A) c.276C>A c.263+6672C>A (n.263+6672C>A) c.*3C>A (n.*3C>A) c.76+6672C>A | |
| 9 | g.69053154C= | CA1854042850 | FXN | c.53C= (p.Thr18=) c.278C= (p.Thr93=) c.165+17207C= (n.165+17207C=) c.276C= c.263+6672C= (n.263+6672C=) c.*3C= (n.*3C=) c.76+6672C= | |
| 9 | g.69053154C>G | CA373529877 | FXN | c.53C>G (p.Thr18Ser) c.278C>G (p.Thr93Ser) c.165+17207C>G (n.165+17207C>G) c.276C>G c.263+6672C>G (n.263+6672C>G) c.*3C>G (n.*3C>G) c.76+6672C>G | |
| 9 | g.69053154C>T | CA193385275 | FXN | c.53C>T (p.Thr18Ile) c.278C>T (p.Thr93Ile) c.165+17207C>T (n.165+17207C>T) c.276C>T c.263+6672C>T (n.263+6672C>T) c.*3C>T (n.*3C>T) c.76+6672C>T | dbSNP gnomAD v4 |
| 9 | g.69053155C>A | CA465233489 | FXN | c.54C>A (p.Thr18=) c.279C>A (p.Thr93=) c.165+17208C>A (n.165+17208C>A) c.277C>A c.263+6673C>A (n.263+6673C>A) c.*4C>A (n.*4C>A) c.76+6673C>A | |
| 9 | g.69053155C= | CA1854042851 | FXN | c.54C= (p.Thr18=) c.279C= (p.Thr93=) c.165+17208C= (n.165+17208C=) c.277C= c.263+6673C= (n.263+6673C=) c.*4C= (n.*4C=) c.76+6673C= | |
| 9 | g.69053155C>G | CA465233488 | FXN | c.54C>G (p.Thr18=) c.279C>G (p.Thr93=) c.165+17208C>G (n.165+17208C>G) c.277C>G c.263+6673C>G (n.263+6673C>G) c.*4C>G (n.*4C>G) c.76+6673C>G | |
| 9 | g.69053155C>T | CA465233487 | FXN | c.54C>T (p.Thr18=) c.279C>T (p.Thr93=) c.165+17208C>T (n.165+17208C>T) c.277C>T c.263+6673C>T (n.263+6673C>T) c.*4C>T (n.*4C>T) c.76+6673C>T | dbSNP |
| 9 | g.69053156A= | CA1854042852 | FXN | c.55A= (p.Thr19=) c.280A= (p.Thr94=) c.165+17209A= (n.165+17209A=) c.278A= c.263+6674A= (n.263+6674A=) c.*5A= (n.*5A=) c.76+6674A= | |
| 9 | g.69053156A>C | CA373529878 | FXN | c.55A>C (p.Thr19Pro) c.280A>C (p.Thr94Pro) c.165+17209A>C (n.165+17209A>C) c.278A>C c.263+6674A>C (n.263+6674A>C) c.*5A>C (n.*5A>C) c.76+6674A>C | |
| 9 | g.69053156A>G | CA5072704 | FXN | c.55A>G (p.Thr19Ala) c.280A>G (p.Thr94Ala) c.165+17209A>G (n.165+17209A>G) c.278A>G c.263+6674A>G (n.263+6674A>G) c.*5A>G (n.*5A>G) c.76+6674A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.69053156A>T | CA373529879 | FXN | c.55A>T (p.Thr19Ser) c.280A>T (p.Thr94Ser) c.165+17209A>T (n.165+17209A>T) c.278A>T c.263+6674A>T (n.263+6674A>T) c.*5A>T (n.*5A>T) c.76+6674A>T | |
| 9 | g.69053157C>A | CA373529880 | FXN | c.56C>A (p.Thr19Asn) c.281C>A (p.Thr94Asn) c.165+17210C>A (n.165+17210C>A) c.279C>A c.263+6675C>A (n.263+6675C>A) c.*6C>A (n.*6C>A) c.76+6675C>A | |
| 9 | g.69053157C>G | CA373529881 | FXN | c.56C>G (p.Thr19Ser) c.281C>G (p.Thr94Ser) c.165+17210C>G (n.165+17210C>G) c.279C>G c.263+6675C>G (n.263+6675C>G) c.*6C>G (n.*6C>G) c.76+6675C>G | |
| 9 | g.69053157C>T | CA373529882 | FXN | c.56C>T (p.Thr19Ile) c.281C>T (p.Thr94Ile) c.165+17210C>T (n.165+17210C>T) c.279C>T c.263+6675C>T (n.263+6675C>T) c.*6C>T (n.*6C>T) c.76+6675C>T | |
| 9 | g.69053158C>A | CA465233491 | FXN | c.57C>A (p.Thr19=) c.282C>A (p.Thr94=) c.165+17211C>A (n.165+17211C>A) c.280C>A c.263+6676C>A (n.263+6676C>A) c.*7C>A (n.*7C>A) c.76+6676C>A | |
| 9 | g.69053158C>G | CA465233490 | FXN | c.57C>G (p.Thr19=) c.282C>G (p.Thr94=) c.165+17211C>G (n.165+17211C>G) c.280C>G c.263+6676C>G (n.263+6676C>G) c.*7C>G (n.*7C>G) c.76+6676C>G | |
| 9 | g.69053158C>T | CA465233492 | FXN | c.57C>T (p.Thr19=) c.282C>T (p.Thr94=) c.165+17211C>T (n.165+17211C>T) c.280C>T c.263+6676C>T (n.263+6676C>T) c.*7C>T (n.*7C>T) c.76+6676C>T | |
| 9 | g.69053159T>A | CA373529883 | FXN | c.58T>A (p.Tyr20Asn) c.283T>A (p.Tyr95Asn) c.165+17212T>A (n.165+17212T>A) c.281T>A c.263+6677T>A (n.263+6677T>A) c.*8T>A (n.*8T>A) c.76+6677T>A | |
| 9 | g.69053159T>C | CA373529884 | FXN | c.58T>C (p.Tyr20His) c.283T>C (p.Tyr95His) c.165+17212T>C (n.165+17212T>C) c.281T>C c.263+6677T>C (n.263+6677T>C) c.*8T>C (n.*8T>C) c.76+6677T>C | dbSNP |
| 9 | g.69053159T>G | CA373529885 | FXN | c.58T>G (p.Tyr20Asp) c.283T>G (p.Tyr95Asp) c.165+17212T>G (n.165+17212T>G) c.281T>G c.263+6677T>G (n.263+6677T>G) c.*8T>G (n.*8T>G) c.76+6677T>G | |
| 9 | g.69053159T= | CA1854042853 | FXN | c.58T= (p.Tyr20=) c.283T= (p.Tyr95=) c.165+17212T= (n.165+17212T=) c.281T= c.263+6677T= (n.263+6677T=) c.*8T= (n.*8T=) c.76+6677T= | |
| 9 | g.69053160A= | CA1854042854 | FXN | c.59A= (p.Tyr20=) c.284A= (p.Tyr95=) c.165+17213A= (n.165+17213A=) c.282A= c.263+6678A= (n.263+6678A=) c.*9A= (n.*9A=) c.76+6678A= | |
| 9 | g.69053160A>C | CA373529888 | FXN | c.59A>C (p.Tyr20Ser) c.284A>C (p.Tyr95Ser) c.165+17213A>C (n.165+17213A>C) c.282A>C c.263+6678A>C (n.263+6678A>C) c.*9A>C (n.*9A>C) c.76+6678A>C | |
| 9 | g.69053160A>G | CA373529887 | FXN | c.59A>G (p.Tyr20Cys) c.284A>G (p.Tyr95Cys) c.165+17213A>G (n.165+17213A>G) c.282A>G c.263+6678A>G (n.263+6678A>G) c.*9A>G (n.*9A>G) c.76+6678A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.69053160A>T | CA373529886 | FXN | c.59A>T (p.Tyr20Phe) c.284A>T (p.Tyr95Phe) c.165+17213A>T (n.165+17213A>T) c.282A>T c.263+6678A>T (n.263+6678A>T) c.*9A>T (n.*9A>T) c.76+6678A>T |