UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.36265189T>A | CA411366276 | APOL1 | c.353T>A (p.Leu118His) c.*115T>A (n.*115T>A) c.440T>A (p.Leu147His) c.401T>A (p.Leu134His) c.299T>A (p.Leu100His) c.-11T>A (n.-11T>A) | |
| 22 | g.36265189T>C | CA411366277 | APOL1 | c.353T>C (p.Leu118Pro) c.*115T>C (n.*115T>C) c.440T>C (p.Leu147Pro) c.401T>C (p.Leu134Pro) c.299T>C (p.Leu100Pro) c.-11T>C (n.-11T>C) | |
| 22 | g.36265189T>G | CA411366278 | APOL1 | c.353T>G (p.Leu118Arg) c.*115T>G (n.*115T>G) c.440T>G (p.Leu147Arg) c.401T>G (p.Leu134Arg) c.299T>G (p.Leu100Arg) c.-11T>G (n.-11T>G) | |
| 22 | g.36265190T>A | CA514472748 | APOL1 | c.354T>A (p.Leu118=) c.*116T>A (n.*116T>A) c.441T>A (p.Leu147=) c.402T>A (p.Leu134=) c.300T>A (p.Leu100=) c.-10T>A (n.-10T>A) | |
| 22 | g.36265190T>C | CA514472749 | APOL1 | c.354T>C (p.Leu118=) c.*116T>C (n.*116T>C) c.441T>C (p.Leu147=) c.402T>C (p.Leu134=) c.300T>C (p.Leu100=) c.-10T>C (n.-10T>C) | dbSNP gnomAD v4 |
| 22 | g.36265190T>G | CA514472750 | APOL1 | c.354T>G (p.Leu118=) c.*116T>G (n.*116T>G) c.441T>G (p.Leu147=) c.402T>G (p.Leu134=) c.300T>G (p.Leu100=) c.-10T>G (n.-10T>G) | |
| 22 | g.36265190T= | CA2403786641 | APOL1 | c.354T= (p.Leu118=) c.*116T= (n.*116T=) c.441T= (p.Leu147=) c.402T= (p.Leu134=) c.300T= (p.Leu100=) c.-10T= (n.-10T=) | |
| 22 | g.36265191G>A | CA411366279 | APOL1 | c.355G>A (p.Ala119Thr) c.*117G>A (n.*117G>A) c.442G>A (p.Ala148Thr) c.403G>A (p.Ala135Thr) c.301G>A (p.Ala101Thr) c.-9G>A (n.-9G>A) | |
| 22 | g.36265191G>C | CA411366281 | APOL1 | c.355G>C (p.Ala119Pro) c.*117G>C (n.*117G>C) c.442G>C (p.Ala148Pro) c.403G>C (p.Ala135Pro) c.301G>C (p.Ala101Pro) c.-9G>C (n.-9G>C) | |
| 22 | g.36265191G>T | CA411366280 | APOL1 | c.355G>T (p.Ala119Ser) c.*117G>T (n.*117G>T) c.442G>T (p.Ala148Ser) c.403G>T (p.Ala135Ser) c.301G>T (p.Ala101Ser) c.-9G>T (n.-9G>T) | |
| 22 | g.36265192C>A | CA411366282 | APOL1 | c.356C>A (p.Ala119Glu) c.*118C>A (n.*118C>A) c.443C>A (p.Ala148Glu) c.404C>A (p.Ala135Glu) c.302C>A (p.Ala101Glu) c.-8C>A (n.-8C>A) | |
| 22 | g.36265192C>G | CA411366283 | APOL1 | c.356C>G (p.Ala119Gly) c.*118C>G (n.*118C>G) c.443C>G (p.Ala148Gly) c.404C>G (p.Ala135Gly) c.302C>G (p.Ala101Gly) c.-8C>G (n.-8C>G) | |
| 22 | g.36265192C>T | CA411366284 | APOL1 | c.356C>T (p.Ala119Val) c.*118C>T (n.*118C>T) c.443C>T (p.Ala148Val) c.404C>T (p.Ala135Val) c.302C>T (p.Ala101Val) c.-8C>T (n.-8C>T) | gnomAD v4 |
| 22 | g.36265193A>C | CA514472752 | APOL1 | c.357A>C (p.Ala119=) c.*119A>C (n.*119A>C) c.444A>C (p.Ala148=) c.405A>C (p.Ala135=) c.303A>C (p.Ala101=) c.-7A>C (n.-7A>C) | |
| 22 | g.36265193A>G | CA514472754 | APOL1 | c.357A>G (p.Ala119=) c.*119A>G (n.*119A>G) c.444A>G (p.Ala148=) c.405A>G (p.Ala135=) c.303A>G (p.Ala101=) c.-7A>G (n.-7A>G) | |
| 22 | g.36265193A>T | CA514472753 | APOL1 | c.357A>T (p.Ala119=) c.*119A>T (n.*119A>T) c.444A>T (p.Ala148=) c.405A>T (p.Ala135=) c.303A>T (p.Ala101=) c.-7A>T (n.-7A>T) | |
| 22 | g.36265194A>C | CA514472756 | APOL1 | c.358A>C (p.Arg120=) c.*120A>C (n.*120A>C) c.445A>C (p.Arg149=) c.406A>C (p.Arg136=) c.304A>C (p.Arg102=) c.-6A>C (n.-6A>C) | |
| 22 | g.36265194A>G | CA411366285 | APOL1 | c.358A>G (p.Arg120Gly) c.*120A>G (n.*120A>G) c.445A>G (p.Arg149Gly) c.406A>G (p.Arg136Gly) c.304A>G (p.Arg102Gly) c.-6A>G (n.-6A>G) | |
| 22 | g.36265194A>T | CA411366286 | APOL1 | c.358A>T (p.Arg120Ter) c.*120A>T (n.*120A>T) c.445A>T (p.Arg149Ter) c.406A>T (p.Arg136Ter) c.304A>T (p.Arg102Ter) c.-6A>T (n.-6A>T) | |
| 22 | g.36265195G>A | CA411366287 | APOL1 | c.359G>A (p.Arg120Lys) c.*121G>A (n.*121G>A) c.446G>A (p.Arg149Lys) c.407G>A (p.Arg136Lys) c.305G>A (p.Arg102Lys) c.-5G>A (n.-5G>A) | gnomAD v4 |
| 22 | g.36265195G>C | CA411366288 | APOL1 | c.359G>C (p.Arg120Thr) c.*121G>C (n.*121G>C) c.446G>C (p.Arg149Thr) c.407G>C (p.Arg136Thr) c.305G>C (p.Arg102Thr) c.-5G>C (n.-5G>C) | ClinVar |
| 22 | g.36265195G>T | CA411366289 | APOL1 | c.359G>T (p.Arg120Ile) c.*121G>T (n.*121G>T) c.446G>T (p.Arg149Ile) c.407G>T (p.Arg136Ile) c.305G>T (p.Arg102Ile) c.-5G>T (n.-5G>T) | |
| 22 | g.36265196A= | CA2403786642 | APOL1 | c.360A= (p.Arg120=) c.*122A= (n.*122A=) c.447A= (p.Arg149=) c.408A= (p.Arg136=) c.306A= (p.Arg102=) c.-4A= (n.-4A=) | |
| 22 | g.36265196A>C | CA411366290 | APOL1 | c.360A>C (p.Arg120Ser) c.*122A>C (n.*122A>C) c.447A>C (p.Arg149Ser) c.408A>C (p.Arg136Ser) c.306A>C (p.Arg102Ser) c.-4A>C (n.-4A>C) | |
| 22 | g.36265196A>G | CA514472758 | APOL1 | c.360A>G (p.Arg120=) c.*122A>G (n.*122A>G) c.447A>G (p.Arg149=) c.408A>G (p.Arg136=) c.306A>G (p.Arg102=) c.-4A>G (n.-4A>G) | |
| 22 | g.36265196A>T | CA411366291 | APOL1 | c.360A>T (p.Arg120Ser) c.*122A>T (n.*122A>T) c.447A>T (p.Arg149Ser) c.408A>T (p.Arg136Ser) c.306A>T (p.Arg102Ser) c.-4A>T (n.-4A>T) | dbSNP gnomAD v2 |
| 22 | g.36265197C>A | CA411366293 | APOL1 | c.361C>A (p.Gln121Lys) c.*123C>A (n.*123C>A) c.448C>A (p.Gln150Lys) c.409C>A (p.Gln137Lys) c.307C>A (p.Gln103Lys) c.-3C>A (n.-3C>A) | |
| 22 | g.36265197C>G | CA411366294 | APOL1 | c.361C>G (p.Gln121Glu) c.*123C>G (n.*123C>G) c.448C>G (p.Gln150Glu) c.409C>G (p.Gln137Glu) c.307C>G (p.Gln103Glu) c.-3C>G (n.-3C>G) | |
| 22 | g.36265197C>T | CA411366292 | APOL1 | c.361C>T (p.Gln121Ter) c.*123C>T (n.*123C>T) c.448C>T (p.Gln150Ter) c.409C>T (p.Gln137Ter) c.307C>T (p.Gln103Ter) c.-3C>T (n.-3C>T) | |
| 22 | g.36265198A>C | CA411366295 | APOL1 | c.362A>C (p.Gln121Pro) c.*124A>C (n.*124A>C) c.449A>C (p.Gln150Pro) c.410A>C (p.Gln137Pro) c.308A>C (p.Gln103Pro) c.-2A>C (n.-2A>C) | |
| 22 | g.36265198A>G | CA411366296 | APOL1 | c.362A>G (p.Gln121Arg) c.*124A>G (n.*124A>G) c.449A>G (p.Gln150Arg) c.410A>G (p.Gln137Arg) c.308A>G (p.Gln103Arg) c.-2A>G (n.-2A>G) | |
| 22 | g.36265198A>T | CA411366297 | APOL1 | c.362A>T (p.Gln121Leu) c.*124A>T (n.*124A>T) c.449A>T (p.Gln150Leu) c.410A>T (p.Gln137Leu) c.308A>T (p.Gln103Leu) c.-2A>T (n.-2A>T) | |
| 22 | g.36265199A>C | CA411366298 | APOL1 | c.363A>C (p.Gln121His) c.*125A>C (n.*125A>C) c.450A>C (p.Gln150His) c.411A>C (p.Gln137His) c.309A>C (p.Gln103His) c.-1A>C (n.-1A>C) | |
| 22 | g.36265199A>G | CA514472763 | APOL1 | c.363A>G (p.Gln121=) c.*125A>G (n.*125A>G) c.450A>G (p.Gln150=) c.411A>G (p.Gln137=) c.309A>G (p.Gln103=) c.-1A>G (n.-1A>G) | gnomAD v4 |
| 22 | g.36265199A>T | CA411366299 | APOL1 | c.363A>T (p.Gln121His) c.*125A>T (n.*125A>T) c.450A>T (p.Gln150His) c.411A>T (p.Gln137His) c.309A>T (p.Gln103His) c.-1A>T (n.-1A>T) | gnomAD v4 |
| 22 | g.36265200A>C | CA411366302 | APOL1 | c.364A>C (p.Met122Leu) c.*126A>C (n.*126A>C) c.451A>C (p.Met151Leu) c.412A>C (p.Met138Leu) c.310A>C (p.Met104Leu) c.1A>C (p.Met1Leu) | |
| 22 | g.36265200A>G | CA411366301 | APOL1 | c.364A>G (p.Met122Val) c.*126A>G (n.*126A>G) c.451A>G (p.Met151Val) c.412A>G (p.Met138Val) c.310A>G (p.Met104Val) c.1A>G (p.Met1Val) | |
| 22 | g.36265200A>T | CA411366300 | APOL1 | c.364A>T (p.Met122Leu) c.*126A>T (n.*126A>T) c.451A>T (p.Met151Leu) c.412A>T (p.Met138Leu) c.310A>T (p.Met104Leu) c.1A>T (p.Met1Leu) | |
| 22 | g.36265201T>A | CA411366303 | APOL1 | c.365T>A (p.Met122Lys) c.*127T>A (n.*127T>A) c.452T>A (p.Met151Lys) c.413T>A (p.Met138Lys) c.311T>A (p.Met104Lys) c.2T>A (p.Met1Lys) | |
| 22 | g.36265201T>C | CA411366304 | APOL1 | c.365T>C (p.Met122Thr) c.*127T>C (n.*127T>C) c.452T>C (p.Met151Thr) c.413T>C (p.Met138Thr) c.311T>C (p.Met104Thr) c.2T>C (p.Met1Thr) | |
| 22 | g.36265201T>G | CA411366305 | APOL1 | c.365T>G (p.Met122Arg) c.*127T>G (n.*127T>G) c.452T>G (p.Met151Arg) c.413T>G (p.Met138Arg) c.311T>G (p.Met104Arg) c.2T>G (p.Met1Arg) | |
| 22 | g.36265202G>A | CA411366306 | APOL1 | c.366G>A (p.Met122Ile) c.*128G>A (n.*128G>A) c.453G>A (p.Met151Ile) c.414G>A (p.Met138Ile) c.312G>A (p.Met104Ile) c.3G>A (p.Met1Ile) | dbSNP gnomAD v4 |
| 22 | g.36265202G>C | CA411366307 | APOL1 | c.366G>C (p.Met122Ile) c.*128G>C (n.*128G>C) c.453G>C (p.Met151Ile) c.414G>C (p.Met138Ile) c.312G>C (p.Met104Ile) c.3G>C (p.Met1Ile) | |
| 22 | g.36265202G= | CA2403786643 | APOL1 | c.366G= (p.Met122=) c.*128G= (n.*128G=) c.453G= (p.Met151=) c.414G= (p.Met138=) c.312G= (p.Met104=) c.3G= (p.Met1=) | |
| 22 | g.36265202G>T | CA411366308 | APOL1 | c.366G>T (p.Met122Ile) c.*128G>T (n.*128G>T) c.453G>T (p.Met151Ile) c.414G>T (p.Met138Ile) c.312G>T (p.Met104Ile) c.3G>T (p.Met1Ile) | |
| 22 | g.36265203A>C | CA411366309 | APOL1 | c.367A>C (p.Ile123Leu) c.*129A>C (n.*129A>C) c.454A>C (p.Ile152Leu) c.415A>C (p.Ile139Leu) c.313A>C (p.Ile105Leu) c.4A>C (p.Ile2Leu) | |
| 22 | g.36265203A>G | CA411366311 | APOL1 | c.367A>G (p.Ile123Val) c.*129A>G (n.*129A>G) c.454A>G (p.Ile152Val) c.415A>G (p.Ile139Val) c.313A>G (p.Ile105Val) c.4A>G (p.Ile2Val) | |
| 22 | g.36265203A>T | CA411366310 | APOL1 | c.367A>T (p.Ile123Phe) c.*129A>T (n.*129A>T) c.454A>T (p.Ile152Phe) c.415A>T (p.Ile139Phe) c.313A>T (p.Ile105Phe) c.4A>T (p.Ile2Phe) | |
| 22 | g.36265204T>A | CA411366312 | APOL1 | c.368T>A (p.Ile123Asn) c.*130T>A (n.*130T>A) c.455T>A (p.Ile152Asn) c.416T>A (p.Ile139Asn) c.314T>A (p.Ile105Asn) c.5T>A (p.Ile2Asn) | ClinVar |
| 22 | g.36265204T>C | CA10208665 | APOL1 | c.368T>C (p.Ile123Thr) c.*130T>C (n.*130T>C) c.455T>C (p.Ile152Thr) c.416T>C (p.Ile139Thr) c.314T>C (p.Ile105Thr) c.5T>C (p.Ile2Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |