Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.48965511A>C | CA406755441 | FTL | c.4A>C (p.Ser2Arg) c.514A>C (p.Ser172Arg) | |
19 | g.48965511A>G | CA406755443 | FTL | c.4A>G (p.Ser2Gly) c.514A>G (p.Ser172Gly) | |
19 | g.48965511A>T | CA406755444 | FTL | c.4A>T (p.Ser2Cys) c.514A>T (p.Ser172Cys) | |
19 | g.48965512G>A | CA406755452 | FTL | c.5G>A (p.Ser2Asn) c.515G>A (p.Ser172Asn) | dbSNP gnomAD v4 |
19 | g.48965512G>C | CA406755448 | FTL | c.5G>C (p.Ser2Thr) c.515G>C (p.Ser172Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.48965512G= | CA2340161302 | FTL | c.5G= (p.Ser2=) c.515G= (p.Ser172=) | |
19 | g.48965512G>T | CA406755450 | FTL | c.5G>T (p.Ser2Ile) c.515G>T (p.Ser172Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.48965513C>A | CA406755454 | FTL | c.6C>A (p.Ser2Arg) c.516C>A (p.Ser172Arg) | |
19 | g.48965513C>G | CA406755456 | FTL | c.6C>G (p.Ser2Arg) c.516C>G (p.Ser172Arg) | |
19 | g.48965513C>T | CA508276545 | FTL | c.6C>T (p.Ser2=) c.516C>T (p.Ser172=) | gnomAD v4 COSMIC |
19 | g.48965514T>A | CA406755457 | FTL | c.7T>A (p.Ser3Thr) c.517T>A (p.Ser173Thr) | |
19 | g.48965514T>C | CA406755459 | FTL | c.7T>C (p.Ser3Pro) c.517T>C (p.Ser173Pro) | |
19 | g.48965514T>G | CA406755461 | FTL | c.7T>G (p.Ser3Ala) c.517T>G (p.Ser173Ala) | |
19 | g.48965515C>A | CA406755464 | FTL | c.8C>A (p.Ser3Tyr) c.518C>A (p.Ser173Tyr) | |
19 | g.48965515C>G | CA406755468 | FTL | c.8C>G (p.Ser3Cys) c.518C>G (p.Ser173Cys) | |
19 | g.48965515C>T | CA406755466 | FTL | c.8C>T (p.Ser3Phe) c.518C>T (p.Ser173Phe) | |
19 | g.48965516C>A | CA508276546 | FTL | c.9C>A (p.Ser3=) c.519C>A (p.Ser173=) | |
19 | g.48965516C= | CA2340161303 | FTL | c.9C= (p.Ser3=) c.519C= (p.Ser173=) | |
19 | g.48965516C>G | CA508276547 | FTL | c.9C>G (p.Ser3=) c.519C>G (p.Ser173=) | |
19 | g.48965516C>T | CA309375210 | FTL | c.9C>T (p.Ser3=) c.519C>T (p.Ser173=) | dbSNP |
19 | g.48965517C>A | CA406755472 | FTL | c.10C>A (p.Gln4Lys) c.520C>A (p.Gln174Lys) | |
19 | g.48965517C= | CA2340161304 | FTL | c.10C= (p.Gln4=) c.520C= (p.Gln174=) | |
19 | g.48965517C>G | CA9562401 | FTL | c.10C>G (p.Gln4Glu) c.520C>G (p.Gln174Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.48965517C>T | CA406755475 | FTL | c.10C>T (p.Gln4Ter) c.520C>T (p.Gln174Ter) | dbSNP gnomAD v4 |
19 | g.48965518A>C | CA406755477 | FTL | c.11A>C (p.Gln4Pro) c.521A>C (p.Gln174Pro) | |
19 | g.48965518A>G | CA406755479 | FTL | c.11A>G (p.Gln4Arg) c.521A>G (p.Gln174Arg) | |
19 | g.48965518A>T | CA406755481 | FTL | c.11A>T (p.Gln4Leu) c.521A>T (p.Gln174Leu) | |
19 | g.48965519G>A | CA508276548 | FTL | c.12G>A (p.Gln4=) c.522G>A (p.Gln174=) | |
19 | g.48965519G>C | CA9562402 | FTL | c.12G>C (p.Gln4His) c.522G>C (p.Gln174His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.48965519G= | CA2340161305 | FTL | c.12G= (p.Gln4=) c.522G= (p.Gln174=) | |
19 | g.48965519G>T | CA406755484 | FTL | c.12G>T (p.Gln4His) c.522G>T (p.Gln174His) | gnomAD v4 |
19 | g.48965520A= | CA2340161306 | FTL | c.13A= (p.Ile5=) c.523A= (p.Ile175=) | |
19 | g.48965520A>C | CA406755486 | FTL | c.13A>C (p.Ile5Leu) c.523A>C (p.Ile175Leu) | |
19 | g.48965520A>G | CA406755487 | FTL | c.13A>G (p.Ile5Val) c.523A>G (p.Ile175Val) | |
19 | g.48965520A>T | CA406755488 | FTL | c.13A>T (p.Ile5Phe) c.523A>T (p.Ile175Phe) | |
19 | g.48965521T>A | CA406755493 | FTL | c.14T>A (p.Ile5Asn) c.524T>A (p.Ile175Asn) | |
19 | g.48965521T>C | CA406755495 | FTL | c.14T>C (p.Ile5Thr) c.524T>C (p.Ile175Thr) | |
19 | g.48965521T>G | CA406755492 | FTL | c.14T>G (p.Ile5Ser) c.524T>G (p.Ile175Ser) | |
19 | g.48965522dup | CA883052258 | FTL | c.15dup (p.Arg6SerfsTer?) c.525dup (p.Arg176SerfsTer?) | dbSNP gnomAD v4 |
19 | g.48965522T>A | CA508276549 | FTL | c.15T>A (p.Ile5=) c.525T>A (p.Ile175=) | |
19 | g.48965522T>C | CA508276550 | FTL | c.15T>C (p.Ile5=) c.525T>C (p.Ile175=) | |
19 | g.48965522T>G | CA406755497 | FTL | c.15T>G (p.Ile5Met) c.525T>G (p.Ile175Met) | |
19 | g.48965523C>A | CA406755500 | FTL | c.16C>A (p.Arg6Ser) c.526C>A (p.Arg176Ser) | gnomAD v4 |
19 | g.48965523C>G | CA406755502 | FTL | c.16C>G (p.Arg6Gly) c.526C>G (p.Arg176Gly) | |
19 | g.48965523C>T | CA406755501 | FTL | c.16C>T (p.Arg6Cys) c.526C>T (p.Arg176Cys) | |
19 | g.48965524G>A | CA309375214 | FTL | c.17G>A (p.Arg6His) c.527G>A (p.Arg176His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.48965524G>C | CA406755506 | FTL | c.17G>C (p.Arg6Pro) c.527G>C (p.Arg176Pro) | |
19 | g.48965524G= | CA2340161307 | FTL | c.17G= (p.Arg6=) c.527G= (p.Arg176=) | |
19 | g.48965524G>T | CA406755505 | FTL | c.17G>T (p.Arg6Leu) c.527G>T (p.Arg176Leu) | |
19 | g.48965525T>A | CA508276553 | FTL | c.18T>A (p.Arg6=) c.528T>A (p.Arg176=) |