Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.48966305_48966321del | CA2586288381 | FTL | c.274_290del (p.Lys92GlufsTer?) c.784_800del (p.Lys262GlufsTer?) | gnomAD v4 |
19 | g.48966317G>A | CA281022 | FTL | c.286G>A (p.Ala96Thr) c.796G>A (p.Ala266Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.48966317G>C | CA406756733 | FTL | c.286G>C (p.Ala96Pro) c.796G>C (p.Ala266Pro) | |
19 | g.48966317G= | CA2340161736 | FTL | c.286G= (p.Ala96=) c.796G= (p.Ala266=) | |
19 | g.48966317G>T | CA406756731 | FTL | c.286G>T (p.Ala96Ser) c.796G>T (p.Ala266Ser) | gnomAD v4 |
19 | g.48966318C>A | CA406756734 | FTL | c.287C>A (p.Ala96Asp) c.797C>A (p.Ala266Asp) | |
19 | g.48966318C>G | CA406756738 | FTL | c.287C>G (p.Ala96Gly) c.797C>G (p.Ala266Gly) | gnomAD v4 |
19 | g.48966318C>T | CA406756736 | FTL | c.287C>T (p.Ala96Val) c.797C>T (p.Ala266Val) | |
19 | g.48966319C>A | CA508078020 | FTL | c.288C>A (p.Ala96=) c.798C>A (p.Ala266=) | |
19 | g.48966319C= | CA2340161737 | FTL | c.288C= (p.Ala96=) c.798C= (p.Ala266=) | |
19 | g.48966319C>G | CA508078021 | FTL | c.288C>G (p.Ala96=) c.798C>G (p.Ala266=) | |
19 | g.48966319C>T | CA9562534 | FTL | c.288C>T (p.Ala96=) c.798C>T (p.Ala266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.48966320A= | CA2340161738 | FTL | c.289A= (p.Met97=) c.799A= (p.Met267=) | |
19 | g.48966320A>C | CA406756741 | FTL | c.289A>C (p.Met97Leu) c.799A>C (p.Met267Leu) | |
19 | g.48966320A>G | CA406756743 | FTL | c.289A>G (p.Met97Val) c.799A>G (p.Met267Val) | dbSNP gnomAD v4 |
19 | g.48966320A>T | CA406756744 | FTL | c.289A>T (p.Met97Leu) c.799A>T (p.Met267Leu) | |
19 | g.48966321T>A | CA406756746 | FTL | c.290T>A (p.Met97Lys) c.800T>A (p.Met267Lys) | |
19 | g.48966321T>C | CA406756748 | FTL | c.290T>C (p.Met97Thr) c.800T>C (p.Met267Thr) | gnomAD v4 COSMIC |
19 | g.48966321T>G | CA406756749 | FTL | c.290T>G (p.Met97Arg) c.800T>G (p.Met267Arg) | |
19 | g.48966322G>A | CA406756750 | FTL | c.291G>A (p.Met97Ile) c.801G>A (p.Met267Ile) | dbSNP gnomAD v4 |
19 | g.48966322G>C | CA406756751 | FTL | c.291G>C (p.Met97Ile) c.801G>C (p.Met267Ile) | |
19 | g.48966322G= | CA2340161739 | FTL | c.291G= (p.Met97=) c.801G= (p.Met267=) | |
19 | g.48966322G>T | CA406756752 | FTL | c.291G>T (p.Met97Ile) c.801G>T (p.Met267Ile) | |
19 | g.48966323A= | CA2340161740 | FTL | c.292A= (p.Lys98=) c.802A= (p.Lys268=) | |
19 | g.48966323A>C | CA406756757 | FTL | c.292A>C (p.Lys98Gln) c.802A>C (p.Lys268Gln) | |
19 | g.48966323A>G | CA406756756 | FTL | c.292A>G (p.Lys98Glu) c.802A>G (p.Lys268Glu) | dbSNP |
19 | g.48966323A>T | CA406756754 | FTL | c.292A>T (p.Lys98Ter) c.802A>T (p.Lys268Ter) | |
19 | g.48966324A= | CA2340161741 | FTL | c.293A= (p.Lys98=) c.803A= (p.Lys268=) | |
19 | g.48966324A>C | CA406756758 | FTL | c.293A>C (p.Lys98Thr) c.803A>C (p.Lys268Thr) | |
19 | g.48966324A>G | CA406756760 | FTL | c.293A>G (p.Lys98Arg) c.803A>G (p.Lys268Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.48966324A>T | CA406756762 | FTL | c.293A>T (p.Lys98Ile) c.803A>T (p.Lys268Ile) | gnomAD v4 |
19 | g.48966325A>C | CA406756763 | FTL | c.294A>C (p.Lys98Asn) c.804A>C (p.Lys268Asn) | |
19 | g.48966325A>G | CA508078024 | FTL | c.294A>G (p.Lys98=) c.804A>G (p.Lys268=) | |
19 | g.48966325A>T | CA406756764 | FTL | c.294A>T (p.Lys98Asn) c.804A>T (p.Lys268Asn) | |
19 | g.48966326G>A | CA406756766 | FTL | c.295G>A (p.Ala99Thr) c.805G>A (p.Ala269Thr) | |
19 | g.48966326G>C | CA406756768 | FTL | c.295G>C (p.Ala99Pro) c.805G>C (p.Ala269Pro) | |
19 | g.48966326G>T | CA406756769 | FTL | c.295G>T (p.Ala99Ser) c.805G>T (p.Ala269Ser) | |
19 | g.48966327C>A | CA406756770 | FTL | c.296C>A (p.Ala99Asp) c.806C>A (p.Ala269Asp) | |
19 | g.48966327C= | CA2340161742 | FTL | c.296C= (p.Ala99=) c.806C= (p.Ala269=) | |
19 | g.48966327C>G | CA406756772 | FTL | c.296C>G (p.Ala99Gly) c.806C>G (p.Ala269Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.48966327C>T | CA406756774 | FTL | c.296C>T (p.Ala99Val) c.806C>T (p.Ala269Val) | |
19 | g.48966328T>A | CA508078026 | FTL | c.297T>A (p.Ala99=) c.807T>A (p.Ala269=) | |
19 | g.48966328T>C | CA508078030 | FTL | c.297T>C (p.Ala99=) c.807T>C (p.Ala269=) | |
19 | g.48966328T>G | CA309376494 | FTL | c.297T>G (p.Ala99=) c.807T>G (p.Ala269=) | dbSNP |
19 | g.48966328T= | CA2340161743 | FTL | c.297T= (p.Ala99=) c.807T= (p.Ala269=) | |
19 | g.48966329G>A | CA406756780 | FTL | c.298G>A (p.Ala100Thr) c.808G>A (p.Ala270Thr) | |
19 | g.48966329G>C | CA406756778 | FTL | c.298G>C (p.Ala100Pro) c.808G>C (p.Ala270Pro) | |
19 | g.48966329G>T | CA406756776 | FTL | c.298G>T (p.Ala100Ser) c.808G>T (p.Ala270Ser) | |
19 | g.48966330C>A | CA406756783 | FTL | c.299C>A (p.Ala100Asp) c.809C>A (p.Ala270Asp) | |
19 | g.48966330C= | CA2340161744 | FTL | c.299C= (p.Ala100=) c.809C= (p.Ala270=) |