WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.185519187_185519188dup | CA2668901441 | LIPH | c.844_845dup (p.Cys284AlafsTer24) c.742_743dup (p.Cys250AlafsTer24) c.216_217dup c.754_755dup (p.Cys254AlafsTer24) c.715_716dup (p.Cys241AlafsTer24) | gnomAD v4 |
| 3 | g.185519186C>A | CA355688070 | LIPH | c.842G>T (p.Cys281Phe) c.740G>T (p.Cys247Phe) c.214G>T c.752G>T (p.Cys251Phe) c.713G>T (p.Cys238Phe) | |
| 3 | g.185519186C= | CA1426522484 | LIPH | c.842G= (p.Cys281=) c.740G= (p.Cys247=) c.214G= c.752G= (p.Cys251=) c.713G= (p.Cys238=) | |
| 3 | g.185519186C>G | CA355688072 | LIPH | c.842G>C (p.Cys281Ser) c.740G>C (p.Cys247Ser) c.214G>C c.752G>C (p.Cys251Ser) c.713G>C (p.Cys238Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.185519186C>T | CA355688074 | LIPH | c.842G>A (p.Cys281Tyr) c.740G>A (p.Cys247Tyr) c.214G>A c.752G>A (p.Cys251Tyr) c.713G>A (p.Cys238Tyr) | |
| 3 | g.185519187A>C | CA355688077 | LIPH | c.841T>G (p.Cys281Gly) c.739T>G (p.Cys247Gly) c.213T>G c.751T>G (p.Cys251Gly) c.712T>G (p.Cys238Gly) | |
| 3 | g.185519187A>G | CA355688079 | LIPH | c.841T>C (p.Cys281Arg) c.739T>C (p.Cys247Arg) c.213T>C c.751T>C (p.Cys251Arg) c.712T>C (p.Cys238Arg) | COSMIC |
| 3 | g.185519187A>T | CA355688081 | LIPH | c.841T>A (p.Cys281Ser) c.739T>A (p.Cys247Ser) c.213T>A c.751T>A (p.Cys251Ser) c.712T>A (p.Cys238Ser) | |
| 3 | g.185519188C>A | CA355688086 | LIPH | c.840G>T (p.Lys280Asn) c.738G>T (p.Lys246Asn) c.212G>T c.750G>T (p.Lys250Asn) c.711G>T (p.Lys237Asn) | |
| 3 | g.185519188C>G | CA355688084 | LIPH | c.840G>C (p.Lys280Asn) c.738G>C (p.Lys246Asn) c.212G>C c.750G>C (p.Lys250Asn) c.711G>C (p.Lys237Asn) | |
| 3 | g.185519188C>T | CA437347242 | LIPH | c.840G>A (p.Lys280=) c.738G>A (p.Lys246=) c.212G>A c.750G>A (p.Lys250=) c.711G>A (p.Lys237=) | |
| 3 | g.185519189T>A | CA355688089 | LIPH | c.839A>T (p.Lys280Met) c.737A>T (p.Lys246Met) c.211A>T c.749A>T (p.Lys250Met) c.710A>T (p.Lys237Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.185519189T>C | CA2740487 | LIPH | c.839A>G (p.Lys280Arg) c.737A>G (p.Lys246Arg) c.211A>G c.749A>G (p.Lys250Arg) c.710A>G (p.Lys237Arg) | dbSNP ExAC gnomAD v2 |
| 3 | g.185519189T>G | CA355688093 | LIPH | c.839A>C (p.Lys280Thr) c.737A>C (p.Lys246Thr) c.211A>C c.749A>C (p.Lys250Thr) c.710A>C (p.Lys237Thr) | |
| 3 | g.185519189T= | CA1426522485 | LIPH | c.839A= (p.Lys280=) c.737A= (p.Lys246=) c.211A= c.749A= (p.Lys250=) c.710A= (p.Lys237=) | |
| 3 | g.185519190T>A | CA355688096 | LIPH | c.838A>T (p.Lys280Ter) c.736A>T (p.Lys246Ter) c.210A>T c.748A>T (p.Lys250Ter) c.709A>T (p.Lys237Ter) | |
| 3 | g.185519190T>C | CA355688098 | LIPH | c.838A>G (p.Lys280Glu) c.736A>G (p.Lys246Glu) c.210A>G c.748A>G (p.Lys250Glu) c.709A>G (p.Lys237Glu) | |
| 3 | g.185519190T>G | CA355688099 | LIPH | c.838A>C (p.Lys280Gln) c.736A>C (p.Lys246Gln) c.210A>C c.748A>C (p.Lys250Gln) c.709A>C (p.Lys237Gln) | |
| 3 | g.185519191G>A | CA437347247 | LIPH | c.837C>T (p.Gly279=) c.735C>T (p.Gly245=) c.209C>T c.747C>T (p.Gly249=) c.708C>T (p.Gly236=) | |
| 3 | g.185519191G>C | CA437347248 | LIPH | c.837C>G (p.Gly279=) c.735C>G (p.Gly245=) c.209C>G c.747C>G (p.Gly249=) c.708C>G (p.Gly236=) | |
| 3 | g.185519191G>T | CA437347249 | LIPH | c.837C>A (p.Gly279=) c.735C>A (p.Gly245=) c.209C>A c.747C>A (p.Gly249=) c.708C>A (p.Gly236=) | |
| 3 | g.185519192C>A | CA355688100 | LIPH | c.836G>T (p.Gly279Val) c.734G>T (p.Gly245Val) c.208G>T c.746G>T (p.Gly249Val) c.707G>T (p.Gly236Val) | COSMIC |
| 3 | g.185519192C= | CA1426522486 | LIPH | c.836G= (p.Gly279=) c.734G= (p.Gly245=) c.208G= c.746G= (p.Gly249=) c.707G= (p.Gly236=) | |
| 3 | g.185519192C>G | CA355688101 | LIPH | c.836G>C (p.Gly279Ala) c.734G>C (p.Gly245Ala) c.208G>C c.746G>C (p.Gly249Ala) c.707G>C (p.Gly236Ala) | |
| 3 | g.185519192C>T | CA355688102 | LIPH | c.836G>A (p.Gly279Asp) c.734G>A (p.Gly245Asp) c.208G>A c.746G>A (p.Gly249Asp) c.707G>A (p.Gly236Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.185519193C>A | CA355688103 | LIPH | c.835G>T (p.Gly279Cys) c.733G>T (p.Gly245Cys) c.207G>T c.745G>T (p.Gly249Cys) c.706G>T (p.Gly236Cys) | |
| 3 | g.185519193C= | CA1426522487 | LIPH | c.835G= (p.Gly279=) c.733G= (p.Gly245=) c.207G= c.745G= (p.Gly249=) c.706G= (p.Gly236=) | |
| 3 | g.185519193C>G | CA355688104 | LIPH | c.835G>C (p.Gly279Arg) c.733G>C (p.Gly245Arg) c.207G>C c.745G>C (p.Gly249Arg) c.706G>C (p.Gly236Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.185519193C>T | CA355688105 | LIPH | c.835G>A (p.Gly279Ser) c.733G>A (p.Gly245Ser) c.207G>A c.745G>A (p.Gly249Ser) c.706G>A (p.Gly236Ser) | gnomAD v4 |
| 3 | g.185519194A>C | CA355688106 | LIPH | c.834T>G (p.Asn278Lys) c.732T>G (p.Asn244Lys) c.206T>G c.744T>G (p.Asn248Lys) c.705T>G (p.Asn235Lys) | |
| 3 | g.185519194A>G | CA437347254 | LIPH | c.834T>C (p.Asn278=) c.732T>C (p.Asn244=) c.206T>C c.744T>C (p.Asn248=) c.705T>C (p.Asn235=) | |
| 3 | g.185519194A>T | CA355688107 | LIPH | c.834T>A (p.Asn278Lys) c.732T>A (p.Asn244Lys) c.206T>A c.744T>A (p.Asn248Lys) c.705T>A (p.Asn235Lys) | |
| 3 | g.185519195T>A | CA355688109 | LIPH | c.833A>T (p.Asn278Ile) c.731A>T (p.Asn244Ile) c.205A>T c.743A>T (p.Asn248Ile) c.704A>T (p.Asn235Ile) | |
| 3 | g.185519195T>C | CA355688110 | LIPH | c.833A>G (p.Asn278Ser) c.731A>G (p.Asn244Ser) c.205A>G c.743A>G (p.Asn248Ser) c.704A>G (p.Asn235Ser) | gnomAD v4 |
| 3 | g.185519195T>G | CA355688108 | LIPH | c.833A>C (p.Asn278Thr) c.731A>C (p.Asn244Thr) c.205A>C c.743A>C (p.Asn248Thr) c.704A>C (p.Asn235Thr) | |
| 3 | g.185519196T>A | CA355688111 | LIPH | c.832A>T (p.Asn278Tyr) c.730A>T (p.Asn244Tyr) c.204A>T c.742A>T (p.Asn248Tyr) c.703A>T (p.Asn235Tyr) | |
| 3 | g.185519196T>C | CA355688113 | LIPH | c.832A>G (p.Asn278Asp) c.730A>G (p.Asn244Asp) c.204A>G c.742A>G (p.Asn248Asp) c.703A>G (p.Asn235Asp) | |
| 3 | g.185519196T>G | CA355688112 | LIPH | c.832A>C (p.Asn278His) c.730A>C (p.Asn244His) c.204A>C c.742A>C (p.Asn248His) c.703A>C (p.Asn235His) | |
| 3 | g.185519197C>A | CA355688114 | LIPH | c.831G>T (p.Arg277Ser) c.729G>T (p.Arg243Ser) c.203G>T c.741G>T (p.Arg247Ser) c.702G>T (p.Arg234Ser) | |
| 3 | g.185519197C= | CA1426522488 | LIPH | c.831G= (p.Arg277=) c.729G= (p.Arg243=) c.203G= c.741G= (p.Arg247=) c.702G= (p.Arg234=) | |
| 3 | g.185519197C>G | CA355688115 | LIPH | c.831G>C (p.Arg277Ser) c.729G>C (p.Arg243Ser) c.203G>C c.741G>C (p.Arg247Ser) c.702G>C (p.Arg234Ser) | dbSNP |
| 3 | g.185519197C>T | CA2740488 | LIPH | c.831G>A (p.Arg277=) c.729G>A (p.Arg243=) c.203G>A c.741G>A (p.Arg247=) c.702G>A (p.Arg234=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.185519198C>A | CA355688116 | LIPH | c.830G>T (p.Arg277Met) c.728G>T (p.Arg243Met) c.202G>T c.740G>T (p.Arg247Met) c.701G>T (p.Arg234Met) | |
| 3 | g.185519198C>G | CA355688117 | LIPH | c.830G>C (p.Arg277Thr) c.728G>C (p.Arg243Thr) c.202G>C c.740G>C (p.Arg247Thr) c.701G>C (p.Arg234Thr) | |
| 3 | g.185519198C>T | CA355688118 | LIPH | c.830G>A (p.Arg277Lys) c.728G>A (p.Arg243Lys) c.202G>A c.740G>A (p.Arg247Lys) c.701G>A (p.Arg234Lys) | |
| 3 | g.185519199T>A | CA355688119 | LIPH | c.829A>T (p.Arg277Trp) c.727A>T (p.Arg243Trp) c.201A>T c.739A>T (p.Arg247Trp) c.700A>T (p.Arg234Trp) | |
| 3 | g.185519199T>C | CA355688120 | LIPH | c.829A>G (p.Arg277Gly) c.727A>G (p.Arg243Gly) c.201A>G c.739A>G (p.Arg247Gly) c.700A>G (p.Arg234Gly) | |
| 3 | g.185519199T>G | CA437347258 | LIPH | c.829A>C (p.Arg277=) c.727A>C (p.Arg243=) c.201A>C c.739A>C (p.Arg247=) c.700A>C (p.Arg234=) | |
| 3 | g.185519200A>C | CA355688121 | LIPH | c.828T>G (p.Tyr276Ter) c.726T>G (p.Tyr242Ter) c.200T>G c.738T>G (p.Tyr246Ter) c.699T>G (p.Tyr233Ter) | |
| 3 | g.185519200A>G | CA437347260 | LIPH | c.828T>C (p.Tyr276=) c.726T>C (p.Tyr242=) c.200T>C c.738T>C (p.Tyr246=) c.699T>C (p.Tyr233=) | gnomAD v4 |