| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.1754970A>C | CA379095302 | CTSD | c.763T>G (p.Tyr255Asp) c.658T>G (p.Tyr220Asp) c.188T>G n.379T>G c.742T>G (p.Tyr248Asp) c.757T>G (p.Tyr253Asp) n.361T>G n.3191T>G n.71T>G c.*624T>G (n.*624T>G) c.163T>G (p.Tyr55Asp) c.718T>G (p.Tyr240Asp) | |
| 11 | g.1754970A>G | CA379095301 | CTSD | c.763T>C (p.Tyr255His) c.658T>C (p.Tyr220His) c.188T>C n.379T>C c.742T>C (p.Tyr248His) c.757T>C (p.Tyr253His) n.361T>C n.3191T>C n.71T>C c.*624T>C (n.*624T>C) c.163T>C (p.Tyr55His) c.718T>C (p.Tyr240His) | |
| 11 | g.1754970A>T | CA379095300 | CTSD | c.763T>A (p.Tyr255Asn) c.658T>A (p.Tyr220Asn) c.188T>A n.379T>A c.742T>A (p.Tyr248Asn) c.757T>A (p.Tyr253Asn) n.361T>A n.3191T>A n.71T>A c.*624T>A (n.*624T>A) c.163T>A (p.Tyr55Asn) c.718T>A (p.Tyr240Asn) | |
| 11 | g.1754971A>C | CA379095304 | CTSD | c.762T>G (p.Tyr254Ter) c.657T>G (p.Tyr219Ter) c.187T>G n.378T>G c.741T>G (p.Tyr247Ter) c.756T>G (p.Tyr252Ter) n.360T>G n.3190T>G n.70T>G c.*623T>G (n.*623T>G) c.162T>G (p.Tyr54Ter) c.717T>G (p.Tyr239Ter) | |
| 11 | g.1754971A>G | CA471983517 | CTSD | c.762T>C (p.Tyr254=) c.657T>C (p.Tyr219=) c.187T>C n.378T>C c.741T>C (p.Tyr247=) c.756T>C (p.Tyr252=) n.360T>C n.3190T>C n.70T>C c.*623T>C (n.*623T>C) c.162T>C (p.Tyr54=) c.717T>C (p.Tyr239=) | |
| 11 | g.1754971A>T | CA379095306 | CTSD | c.762T>A (p.Tyr254Ter) c.657T>A (p.Tyr219Ter) c.187T>A n.378T>A c.741T>A (p.Tyr247Ter) c.756T>A (p.Tyr252Ter) n.360T>A n.3190T>A n.70T>A c.*623T>A (n.*623T>A) c.162T>A (p.Tyr54Ter) c.717T>A (p.Tyr239Ter) | |
| 11 | g.1754972T>A | CA379095308 | CTSD | c.761A>T (p.Tyr254Phe) c.656A>T (p.Tyr219Phe) c.186A>T n.377A>T c.740A>T (p.Tyr247Phe) c.755A>T (p.Tyr252Phe) n.359A>T n.3189A>T n.69A>T c.*622A>T (n.*622A>T) c.161A>T (p.Tyr54Phe) c.716A>T (p.Tyr239Phe) | |
| 11 | g.1754972T>C | CA379095310 | CTSD | c.761A>G (p.Tyr254Cys) c.656A>G (p.Tyr219Cys) c.186A>G n.377A>G c.740A>G (p.Tyr247Cys) c.755A>G (p.Tyr252Cys) n.359A>G n.3189A>G n.69A>G c.*622A>G (n.*622A>G) c.161A>G (p.Tyr54Cys) c.716A>G (p.Tyr239Cys) | |
| 11 | g.1754972T>G | CA379095311 | CTSD | c.761A>C (p.Tyr254Ser) c.656A>C (p.Tyr219Ser) c.186A>C n.377A>C c.740A>C (p.Tyr247Ser) c.755A>C (p.Tyr252Ser) n.359A>C n.3189A>C n.69A>C c.*622A>C (n.*622A>C) c.161A>C (p.Tyr54Ser) c.716A>C (p.Tyr239Ser) | |
| 11 | g.1754973A>C | CA379095314 | CTSD | c.760T>G (p.Tyr254Asp) c.655T>G (p.Tyr219Asp) c.185T>G n.376T>G c.739T>G (p.Tyr247Asp) c.754T>G (p.Tyr252Asp) n.358T>G n.3188T>G n.68T>G c.*621T>G (n.*621T>G) c.160T>G (p.Tyr54Asp) c.715T>G (p.Tyr239Asp) | |
| 11 | g.1754973A>G | CA379095315 | CTSD | c.760T>C (p.Tyr254His) c.655T>C (p.Tyr219His) c.185T>C n.376T>C c.739T>C (p.Tyr247His) c.754T>C (p.Tyr252His) n.358T>C n.3188T>C n.68T>C c.*621T>C (n.*621T>C) c.160T>C (p.Tyr54His) c.715T>C (p.Tyr239His) | |
| 11 | g.1754973A>T | CA379095317 | CTSD | c.760T>A (p.Tyr254Asn) c.655T>A (p.Tyr219Asn) c.185T>A n.376T>A c.739T>A (p.Tyr247Asn) c.754T>A (p.Tyr252Asn) n.358T>A n.3188T>A n.68T>A c.*621T>A (n.*621T>A) c.160T>A (p.Tyr54Asn) c.715T>A (p.Tyr239Asn) | |
| 11 | g.1754974C>A | CA379095319 | CTSD | c.759G>T (p.Lys253Asn) c.654G>T (p.Lys218Asn) c.184G>T n.375G>T c.738G>T (p.Lys246Asn) c.753G>T (p.Lys251Asn) n.357G>T n.3187G>T n.67G>T c.*620G>T (n.*620G>T) c.159G>T (p.Lys53Asn) c.714G>T (p.Lys238Asn) | |
| 11 | g.1754974C>G | CA379095320 | CTSD | c.759G>C (p.Lys253Asn) c.654G>C (p.Lys218Asn) c.184G>C n.375G>C c.738G>C (p.Lys246Asn) c.753G>C (p.Lys251Asn) n.357G>C n.3187G>C n.67G>C c.*620G>C (n.*620G>C) c.159G>C (p.Lys53Asn) c.714G>C (p.Lys238Asn) | |
| 11 | g.1754974C>T | CA471983538 | CTSD | c.759G>A (p.Lys253=) c.654G>A (p.Lys218=) c.184G>A n.375G>A c.738G>A (p.Lys246=) c.753G>A (p.Lys251=) n.357G>A n.3187G>A n.67G>A c.*620G>A (n.*620G>A) c.159G>A (p.Lys53=) c.714G>A (p.Lys238=) | ClinVar dbSNP |
| 11 | g.1754975T>A | CA379095322 | CTSD | c.758A>T (p.Lys253Met) c.653A>T (p.Lys218Met) c.183A>T n.374A>T c.737A>T (p.Lys246Met) c.752A>T (p.Lys251Met) n.356A>T n.3186A>T n.66A>T c.*619A>T (n.*619A>T) c.158A>T (p.Lys53Met) c.713A>T (p.Lys238Met) | |
| 11 | g.1754975T>C | CA314358 | CTSD | c.758A>G (p.Lys253Arg) c.653A>G (p.Lys218Arg) c.183A>G n.374A>G c.737A>G (p.Lys246Arg) c.752A>G (p.Lys251Arg) n.356A>G n.3186A>G n.66A>G c.*619A>G (n.*619A>G) c.158A>G (p.Lys53Arg) c.713A>G (p.Lys238Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1754975T>G | CA379095324 | CTSD | c.758A>C (p.Lys253Thr) c.653A>C (p.Lys218Thr) c.183A>C n.374A>C c.737A>C (p.Lys246Thr) c.752A>C (p.Lys251Thr) n.356A>C n.3186A>C n.66A>C c.*619A>C (n.*619A>C) c.158A>C (p.Lys53Thr) c.713A>C (p.Lys238Thr) | |
| 11 | g.1754975T= | CA1947826314 | CTSD | c.758A= (p.Lys253=) c.653A= (p.Lys218=) c.183A= n.374A= c.737A= (p.Lys246=) c.752A= (p.Lys251=) n.356A= n.3186A= n.66A= c.*619A= (n.*619A=) c.158A= (p.Lys53=) c.713A= (p.Lys238=) | |
| 11 | g.1754976T>A | CA379095327 | CTSD | c.757A>T (p.Lys253Ter) c.652A>T (p.Lys218Ter) c.182A>T n.373A>T c.736A>T (p.Lys246Ter) c.751A>T (p.Lys251Ter) n.355A>T n.3185A>T n.65A>T c.*618A>T (n.*618A>T) c.157A>T (p.Lys53Ter) c.712A>T (p.Lys238Ter) | |
| 11 | g.1754976T>C | CA379095330 | CTSD | c.757A>G (p.Lys253Glu) c.652A>G (p.Lys218Glu) c.182A>G n.373A>G c.736A>G (p.Lys246Glu) c.751A>G (p.Lys251Glu) n.355A>G n.3185A>G n.65A>G c.*618A>G (n.*618A>G) c.157A>G (p.Lys53Glu) c.712A>G (p.Lys238Glu) | gnomAD v4 |
| 11 | g.1754976T>G | CA379095328 | CTSD | c.757A>C (p.Lys253Gln) c.652A>C (p.Lys218Gln) c.182A>C n.373A>C c.736A>C (p.Lys246Gln) c.751A>C (p.Lys251Gln) n.355A>C n.3185A>C n.65A>C c.*618A>C (n.*618A>C) c.157A>C (p.Lys53Gln) c.712A>C (p.Lys238Gln) | |
| 11 | g.1754976T= | CA1947826315 | CTSD | c.757A= (p.Lys253=) c.652A= (p.Lys218=) c.182A= n.373A= c.736A= (p.Lys246=) c.751A= (p.Lys251=) n.355A= n.3185A= n.65A= c.*618A= (n.*618A=) c.157A= (p.Lys53=) c.712A= (p.Lys238=) | |
| 11 | g.1754977G>A | CA471983565 | CTSD | c.756C>T (p.Ser252=) c.651C>T (p.Ser217=) c.181C>T n.372C>T c.735C>T (p.Ser245=) c.750C>T (p.Ser250=) n.354C>T n.3184C>T n.64C>T c.*617C>T (n.*617C>T) c.156C>T (p.Ser52=) c.711C>T (p.Ser237=) | ClinVar |
| 11 | g.1754977G>C | CA471983567 | CTSD | c.756C>G (p.Ser252=) c.651C>G (p.Ser217=) c.181C>G n.372C>G c.735C>G (p.Ser245=) c.750C>G (p.Ser250=) n.354C>G n.3184C>G n.64C>G c.*617C>G (n.*617C>G) c.156C>G (p.Ser52=) c.711C>G (p.Ser237=) | |
| 11 | g.1754977G>T | CA471983569 | CTSD | c.756C>A (p.Ser252=) c.651C>A (p.Ser217=) c.181C>A n.372C>A c.735C>A (p.Ser245=) c.750C>A (p.Ser250=) n.354C>A n.3184C>A n.64C>A c.*617C>A (n.*617C>A) c.156C>A (p.Ser52=) c.711C>A (p.Ser237=) | gnomAD v4 |
| 11 | g.1754978dup | CA934405344 | CTSD | c.756dup (p.Lys253GlnfsTer?) c.651dup (p.Lys218GlnfsTer?) c.181dup c.756dup (p.Lys253GlnfsTer27) n.372dup c.735dup (p.Lys246GlnfsTer?) c.750dup (p.Lys251GlnfsTer?) n.354dup n.3184dup n.64dup c.*617dup (n.*617dup) c.156dup (p.Lys53GlnfsTer?) c.711dup (p.Lys238GlnfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1754978G>A | CA5814070 | CTSD | c.755C>T (p.Ser252Phe) c.650C>T (p.Ser217Phe) c.180C>T n.371C>T c.734C>T (p.Ser245Phe) c.749C>T (p.Ser250Phe) n.353C>T n.3183C>T n.63C>T c.*616C>T (n.*616C>T) c.155C>T (p.Ser52Phe) c.710C>T (p.Ser237Phe) | dbSNP ExAC gnomAD v2 |
| 11 | g.1754978G>C | CA379095333 | CTSD | c.755C>G (p.Ser252Cys) c.650C>G (p.Ser217Cys) c.180C>G n.371C>G c.734C>G (p.Ser245Cys) c.749C>G (p.Ser250Cys) n.353C>G n.3183C>G n.63C>G c.*616C>G (n.*616C>G) c.155C>G (p.Ser52Cys) c.710C>G (p.Ser237Cys) | |
| 11 | g.1754978G= | CA1947826316 | CTSD | c.755C= (p.Ser252=) c.650C= (p.Ser217=) c.180C= n.371C= c.734C= (p.Ser245=) c.749C= (p.Ser250=) n.353C= n.3183C= n.63C= c.*616C= (n.*616C=) c.155C= (p.Ser52=) c.710C= (p.Ser237=) | |
| 11 | g.1754978G>T | CA379095334 | CTSD | c.755C>A (p.Ser252Tyr) c.650C>A (p.Ser217Tyr) c.180C>A n.371C>A c.734C>A (p.Ser245Tyr) c.749C>A (p.Ser250Tyr) n.353C>A n.3183C>A n.63C>A c.*616C>A (n.*616C>A) c.155C>A (p.Ser52Tyr) c.710C>A (p.Ser237Tyr) | |
| 11 | g.1754979A>C | CA379095336 | CTSD | c.754T>G (p.Ser252Ala) c.649T>G (p.Ser217Ala) c.179T>G n.370T>G c.733T>G (p.Ser245Ala) c.748T>G (p.Ser250Ala) n.352T>G n.3182T>G n.62T>G c.*615T>G (n.*615T>G) c.154T>G (p.Ser52Ala) c.709T>G (p.Ser237Ala) | |
| 11 | g.1754979A>G | CA379095338 | CTSD | c.754T>C (p.Ser252Pro) c.649T>C (p.Ser217Pro) c.179T>C n.370T>C c.733T>C (p.Ser245Pro) c.748T>C (p.Ser250Pro) n.352T>C n.3182T>C n.62T>C c.*615T>C (n.*615T>C) c.154T>C (p.Ser52Pro) c.709T>C (p.Ser237Pro) | |
| 11 | g.1754979A>T | CA379095340 | CTSD | c.754T>A (p.Ser252Thr) c.649T>A (p.Ser217Thr) c.179T>A n.370T>A c.733T>A (p.Ser245Thr) c.748T>A (p.Ser250Thr) n.352T>A n.3182T>A n.62T>A c.*615T>A (n.*615T>A) c.154T>A (p.Ser52Thr) c.709T>A (p.Ser237Thr) | |
| 11 | g.1754980G>A | CA471983595 | CTSD | c.753C>T (p.Asp251=) c.648C>T (p.Asp216=) c.178C>T n.369C>T c.732C>T (p.Asp244=) c.747C>T (p.Asp249=) n.351C>T n.3181C>T n.61C>T c.*614C>T (n.*614C>T) c.153C>T (p.Asp51=) c.708C>T (p.Asp236=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1754980G>C | CA379095342 | CTSD | c.753C>G (p.Asp251Glu) c.648C>G (p.Asp216Glu) c.178C>G n.369C>G c.732C>G (p.Asp244Glu) c.747C>G (p.Asp249Glu) n.351C>G n.3181C>G n.61C>G c.*614C>G (n.*614C>G) c.153C>G (p.Asp51Glu) c.708C>G (p.Asp236Glu) | gnomAD v4 |
| 11 | g.1754980G>T | CA379095344 | CTSD | c.753C>A (p.Asp251Glu) c.648C>A (p.Asp216Glu) c.178C>A n.369C>A c.732C>A (p.Asp244Glu) c.747C>A (p.Asp249Glu) n.351C>A n.3181C>A n.61C>A c.*614C>A (n.*614C>A) c.153C>A (p.Asp51Glu) c.708C>A (p.Asp236Glu) | |
| 11 | g.1754981T>A | CA379095349 | CTSD | c.752A>T (p.Asp251Val) c.647A>T (p.Asp216Val) c.177A>T n.368A>T c.731A>T (p.Asp244Val) c.746A>T (p.Asp249Val) n.350A>T n.3180A>T n.60A>T c.*613A>T (n.*613A>T) c.152A>T (p.Asp51Val) c.707A>T (p.Asp236Val) | |
| 11 | g.1754981T>C | CA379095352 | CTSD | c.752A>G (p.Asp251Gly) c.647A>G (p.Asp216Gly) c.177A>G n.368A>G c.731A>G (p.Asp244Gly) c.746A>G (p.Asp249Gly) n.350A>G n.3180A>G n.60A>G c.*613A>G (n.*613A>G) c.152A>G (p.Asp51Gly) c.707A>G (p.Asp236Gly) | |
| 11 | g.1754981T>G | CA379095353 | CTSD | c.752A>C (p.Asp251Ala) c.647A>C (p.Asp216Ala) c.177A>C n.368A>C c.731A>C (p.Asp244Ala) c.746A>C (p.Asp249Ala) n.350A>C n.3180A>C n.60A>C c.*613A>C (n.*613A>C) c.152A>C (p.Asp51Ala) c.707A>C (p.Asp236Ala) | |
| 11 | g.1754982C>A | CA379095355 | CTSD | c.751G>T (p.Asp251Tyr) c.646G>T (p.Asp216Tyr) c.176G>T n.367G>T c.730G>T (p.Asp244Tyr) c.745G>T (p.Asp249Tyr) n.349G>T n.3179G>T n.59G>T c.*612G>T (n.*612G>T) c.151G>T (p.Asp51Tyr) c.706G>T (p.Asp236Tyr) | |
| 11 | g.1754982C= | CA1947826317 | CTSD | c.751G= (p.Asp251=) c.646G= (p.Asp216=) c.176G= n.367G= c.730G= (p.Asp244=) c.745G= (p.Asp249=) n.349G= n.3179G= n.59G= c.*612G= (n.*612G=) c.151G= (p.Asp51=) c.706G= (p.Asp236=) | |
| 11 | g.1754982C>G | CA379095357 | CTSD | c.751G>C (p.Asp251His) c.646G>C (p.Asp216His) c.176G>C n.367G>C c.730G>C (p.Asp244His) c.745G>C (p.Asp249His) n.349G>C n.3179G>C n.59G>C c.*612G>C (n.*612G>C) c.151G>C (p.Asp51His) c.706G>C (p.Asp236His) | |
| 11 | g.1754982C>T | CA314356 | CTSD | c.751G>A (p.Asp251Asn) c.646G>A (p.Asp216Asn) c.176G>A n.367G>A c.730G>A (p.Asp244Asn) c.745G>A (p.Asp249Asn) n.349G>A n.3179G>A n.59G>A c.*612G>A (n.*612G>A) c.151G>A (p.Asp51Asn) c.706G>A (p.Asp236Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1754983T>A | CA471983610 | CTSD | c.750A>T (p.Thr250=) c.645A>T (p.Thr215=) c.175A>T n.366A>T c.729A>T (p.Thr243=) c.744A>T (p.Thr248=) n.348A>T n.3178A>T n.58A>T c.*611A>T (n.*611A>T) c.150A>T (p.Thr50=) c.705A>T (p.Thr235=) | |
| 11 | g.1754983T>C | CA471983615 | CTSD | c.750A>G (p.Thr250=) c.645A>G (p.Thr215=) c.175A>G n.366A>G c.729A>G (p.Thr243=) c.744A>G (p.Thr248=) n.348A>G n.3178A>G n.58A>G c.*611A>G (n.*611A>G) c.150A>G (p.Thr50=) c.705A>G (p.Thr235=) | |
| 11 | g.1754983T>G | CA471983609 | CTSD | c.750A>C (p.Thr250=) c.645A>C (p.Thr215=) c.175A>C n.366A>C c.729A>C (p.Thr243=) c.744A>C (p.Thr248=) n.348A>C n.3178A>C n.58A>C c.*611A>C (n.*611A>C) c.150A>C (p.Thr50=) c.705A>C (p.Thr235=) | |
| 11 | g.1754984G>A | CA379095359 | CTSD | c.749C>T (p.Thr250Ile) c.644C>T (p.Thr215Ile) c.174C>T n.365C>T c.728C>T (p.Thr243Ile) c.743C>T (p.Thr248Ile) n.347C>T n.3177C>T n.57C>T c.*610C>T (n.*610C>T) c.149C>T (p.Thr50Ile) c.704C>T (p.Thr235Ile) | |
| 11 | g.1754984G>C | CA379095363 | CTSD | c.749C>G (p.Thr250Arg) c.644C>G (p.Thr215Arg) c.174C>G n.365C>G c.728C>G (p.Thr243Arg) c.743C>G (p.Thr248Arg) n.347C>G n.3177C>G n.57C>G c.*610C>G (n.*610C>G) c.149C>G (p.Thr50Arg) c.704C>G (p.Thr235Arg) | gnomAD v4 |
| 11 | g.1754984G>T | CA379095365 | CTSD | c.749C>A (p.Thr250Lys) c.644C>A (p.Thr215Lys) c.174C>A n.365C>A c.728C>A (p.Thr243Lys) c.743C>A (p.Thr248Lys) n.347C>A n.3177C>A n.57C>A c.*610C>A (n.*610C>A) c.149C>A (p.Thr50Lys) c.704C>A (p.Thr235Lys) |