| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.48965836G>A | CA211321 | FTL | c.169G>A (p.Glu57Lys) c.679G>A (p.Glu227Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48965836G>C | CA406756282 | FTL | c.169G>C (p.Glu57Gln) c.679G>C (p.Glu227Gln) | |
| 19 | g.48965836G= | CA2340161488 | FTL | c.169G= (p.Glu57=) c.679G= (p.Glu227=) | |
| 19 | g.48965836G>T | CA406756284 | FTL | c.169G>T (p.Glu57Ter) c.679G>T (p.Glu227Ter) | |
| 19 | g.48965837A>C | CA406756291 | FTL | c.170A>C (p.Glu57Ala) c.680A>C (p.Glu227Ala) | |
| 19 | g.48965837A>G | CA406756289 | FTL | c.170A>G (p.Glu57Gly) c.680A>G (p.Glu227Gly) | |
| 19 | g.48965837A>T | CA406756287 | FTL | c.170A>T (p.Glu57Val) c.680A>T (p.Glu227Val) | |
| 19 | g.48965838G>A | CA508276643 | FTL | c.171G>A (p.Glu57=) c.681G>A (p.Glu227=) | gnomAD v4 |
| 19 | g.48965838G>C | CA406756293 | FTL | c.171G>C (p.Glu57Asp) c.681G>C (p.Glu227Asp) | gnomAD v4 |
| 19 | g.48965838G>T | CA406756295 | FTL | c.171G>T (p.Glu57Asp) c.681G>T (p.Glu227Asp) | |
| 19 | g.48965839G>A | CA9562461 | FTL | c.172G>A (p.Glu58Lys) c.682G>A (p.Glu228Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48965839G>C | CA406756299 | FTL | c.172G>C (p.Glu58Gln) c.682G>C (p.Glu228Gln) | dbSNP gnomAD v4 |
| 19 | g.48965839G= | CA2340161489 | FTL | c.172G= (p.Glu58=) c.682G= (p.Glu228=) | |
| 19 | g.48965839G>T | CA406756301 | FTL | c.172G>T (p.Glu58Ter) c.682G>T (p.Glu228Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48965839_48965840delinsAT | CA2573131704 | FTL | c.172_173delinsAT (p.Glu58Met) c.682_683delinsAT (p.Glu228Met) | |
| 19 | g.48965840A= | CA2340161490 | FTL | c.173A= (p.Glu58=) c.683A= (p.Glu228=) | |
| 19 | g.48965840A>C | CA406756303 | FTL | c.173A>C (p.Glu58Ala) c.683A>C (p.Glu228Ala) | |
| 19 | g.48965840A>G | CA406756305 | FTL | c.173A>G (p.Glu58Gly) c.683A>G (p.Glu228Gly) | |
| 19 | g.48965840A>T | CA9562462 | FTL | c.173A>T (p.Glu58Val) c.683A>T (p.Glu228Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.48965840dup | CA2573054804 | FTL | c.173dup (p.Lys59GlufsTer29) c.683dup (p.Lys229GlufsTer29) | ClinVar dbSNP |
| 19 | g.48965841G>A | CA508276644 | FTL | c.174G>A (p.Glu58=) c.684G>A (p.Glu228=) | |
| 19 | g.48965841G>C | CA406756308 | FTL | c.174G>C (p.Glu58Asp) c.684G>C (p.Glu228Asp) | |
| 19 | g.48965841G>T | CA406756309 | FTL | c.174G>T (p.Glu58Asp) c.684G>T (p.Glu228Asp) | COSMIC |
| 19 | g.48965842A= | CA2340161491 | FTL | c.175A= (p.Lys59=) c.685A= (p.Lys229=) | |
| 19 | g.48965842A>C | CA406756311 | FTL | c.175A>C (p.Lys59Gln) c.685A>C (p.Lys229Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.48965842A>G | CA406756313 | FTL | c.175A>G (p.Lys59Glu) c.685A>G (p.Lys229Glu) | |
| 19 | g.48965842A>T | CA406756314 | FTL | c.175A>T (p.Lys59Ter) c.685A>T (p.Lys229Ter) | |
| 19 | g.48965843A= | CA2340161492 | FTL | c.176A= (p.Lys59=) c.686A= (p.Lys229=) | |
| 19 | g.48965843A>C | CA406756319 | FTL | c.176A>C (p.Lys59Thr) c.686A>C (p.Lys229Thr) | |
| 19 | g.48965843A>G | CA309375817 | FTL | c.176A>G (p.Lys59Arg) c.686A>G (p.Lys229Arg) | dbSNP |
| 19 | g.48965843A>T | CA406756317 | FTL | c.176A>T (p.Lys59Met) c.686A>T (p.Lys229Met) | |
| 19 | g.48965844G>A | CA508276645 | FTL | c.177G>A (p.Lys59=) c.687G>A (p.Lys229=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.48965844G>C | CA406756321 | FTL | c.177G>C (p.Lys59Asn) c.687G>C (p.Lys229Asn) | |
| 19 | g.48965844G= | CA2340161493 | FTL | c.177G= (p.Lys59=) c.687G= (p.Lys229=) | |
| 19 | g.48965844G>T | CA406756324 | FTL | c.177G>T (p.Lys59Asn) c.687G>T (p.Lys229Asn) | |
| 19 | g.48965847_48965848del | CA2586288145 | FTL | c.180_181del (p.Glu61GlyfsTer26) c.690_691del (p.Glu231GlyfsTer26) | gnomAD v4 |
| 19 | g.48965845C>A | CA406756326 | FTL | c.178C>A (p.Arg60Ser) c.688C>A (p.Arg230Ser) | |
| 19 | g.48965845C= | CA2340161494 | FTL | c.178C= (p.Arg60=) c.688C= (p.Arg230=) | |
| 19 | g.48965845C>G | CA406756328 | FTL | c.178C>G (p.Arg60Gly) c.688C>G (p.Arg230Gly) | |
| 19 | g.48965845C>T | CA406756329 | FTL | c.178C>T (p.Arg60Cys) c.688C>T (p.Arg230Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.48965846G>A | CA406756333 | FTL | c.179G>A (p.Arg60His) c.689G>A (p.Arg230His) | |
| 19 | g.48965846G>C | CA406756335 | FTL | c.179G>C (p.Arg60Pro) c.689G>C (p.Arg230Pro) | |
| 19 | g.48965846G>T | CA406756336 | FTL | c.179G>T (p.Arg60Leu) c.689G>T (p.Arg230Leu) | |
| 19 | g.48965847C>A | CA508276646 | FTL | c.180C>A (p.Arg60=) c.690C>A (p.Arg230=) | |
| 19 | g.48965847C>G | CA508276647 | FTL | c.180C>G (p.Arg60=) c.690C>G (p.Arg230=) | |
| 19 | g.48965847C>T | CA508276648 | FTL | c.180C>T (p.Arg60=) c.690C>T (p.Arg230=) | gnomAD v4 |
| 19 | g.48965848G>A | CA406756338 | FTL | c.181G>A (p.Glu61Lys) c.691G>A (p.Glu231Lys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.48965848G>C | CA406756340 | FTL | c.181G>C (p.Glu61Gln) c.691G>C (p.Glu231Gln) | |
| 19 | g.48965848G= | CA2340161495 | FTL | c.181G= (p.Glu61=) c.691G= (p.Glu231=) | |
| 19 | g.48965848G>T | CA406756341 | FTL | c.181G>T (p.Glu61Ter) c.691G>T (p.Glu231Ter) |