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 |
|---|---|---|---|---|---|
| 7 | g.50504025G>A | CA127444 | DDC,FIGNL1 | c.749C>T (p.Ser250Phe) c.515C>T (p.Ser172Phe) c.391C>T c.470C>T (p.Ser157Phe) c.635C>T (p.Ser212Phe) c.-11+38493C>T (n.-11+38493C>T) c.605C>T (p.Ser202Phe) c.398C>T (p.Ser133Phe) c.692C>T (p.Ser231Phe) | ClinVar dbSNP gnomAD v4 |
| 7 | g.50504025G>C | CA367538992 | DDC,FIGNL1 | c.749C>G (p.Ser250Cys) c.515C>G (p.Ser172Cys) c.391C>G c.470C>G (p.Ser157Cys) c.635C>G (p.Ser212Cys) c.-11+38493C>G (n.-11+38493C>G) c.605C>G (p.Ser202Cys) c.398C>G (p.Ser133Cys) c.692C>G (p.Ser231Cys) | |
| 7 | g.50504025G= | CA1706633568 | DDC,FIGNL1 | c.749C= (p.Ser250=) c.515C= (p.Ser172=) c.391C= c.470C= (p.Ser157=) c.635C= (p.Ser212=) c.-11+38493C= (n.-11+38493C=) c.605C= (p.Ser202=) c.398C= (p.Ser133=) c.692C= (p.Ser231=) | |
| 7 | g.50504025G>T | CA367538993 | DDC,FIGNL1 | c.749C>A (p.Ser250Tyr) c.515C>A (p.Ser172Tyr) c.391C>A c.470C>A (p.Ser157Tyr) c.635C>A (p.Ser212Tyr) c.-11+38493C>A (n.-11+38493C>A) c.605C>A (p.Ser202Tyr) c.398C>A (p.Ser133Tyr) c.692C>A (p.Ser231Tyr) | |
| 7 | g.50504026A>C | CA367538995 | DDC,FIGNL1 | c.748T>G (p.Ser250Ala) c.514T>G (p.Ser172Ala) c.390T>G c.469T>G (p.Ser157Ala) c.634T>G (p.Ser212Ala) c.-11+38492T>G (n.-11+38492T>G) c.604T>G (p.Ser202Ala) c.397T>G (p.Ser133Ala) c.691T>G (p.Ser231Ala) | |
| 7 | g.50504026A>G | CA367538997 | DDC,FIGNL1 | c.748T>C (p.Ser250Pro) c.514T>C (p.Ser172Pro) c.390T>C c.469T>C (p.Ser157Pro) c.634T>C (p.Ser212Pro) c.-11+38492T>C (n.-11+38492T>C) c.604T>C (p.Ser202Pro) c.397T>C (p.Ser133Pro) c.691T>C (p.Ser231Pro) | |
| 7 | g.50504026A>T | CA367538999 | DDC,FIGNL1 | c.748T>A (p.Ser250Thr) c.514T>A (p.Ser172Thr) c.390T>A c.469T>A (p.Ser157Thr) c.634T>A (p.Ser212Thr) c.-11+38492T>A (n.-11+38492T>A) c.604T>A (p.Ser202Thr) c.397T>A (p.Ser133Thr) c.691T>A (p.Ser231Thr) | |
| 7 | g.50504027G>A | CA4262265 | DDC,FIGNL1 | c.747C>T (p.Cys249=) c.513C>T (p.Cys171=) c.389C>T c.468C>T (p.Cys156=) c.633C>T (p.Cys211=) c.-11+38491C>T (n.-11+38491C>T) c.603C>T (p.Cys201=) c.396C>T (p.Cys132=) c.690C>T (p.Cys230=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50504027G>C | CA367539001 | DDC,FIGNL1 | c.747C>G (p.Cys249Trp) c.513C>G (p.Cys171Trp) c.389C>G c.468C>G (p.Cys156Trp) c.633C>G (p.Cys211Trp) c.-11+38491C>G (n.-11+38491C>G) c.603C>G (p.Cys201Trp) c.396C>G (p.Cys132Trp) c.690C>G (p.Cys230Trp) | |
| 7 | g.50504027G= | CA1706633573 | DDC,FIGNL1 | c.747C= (p.Cys249=) c.513C= (p.Cys171=) c.389C= c.468C= (p.Cys156=) c.633C= (p.Cys211=) c.-11+38491C= (n.-11+38491C=) c.603C= (p.Cys201=) c.396C= (p.Cys132=) c.690C= (p.Cys230=) | |
| 7 | g.50504027G>T | CA367539003 | DDC,FIGNL1 | c.747C>A (p.Cys249Ter) c.513C>A (p.Cys171Ter) c.389C>A c.468C>A (p.Cys156Ter) c.633C>A (p.Cys211Ter) c.-11+38491C>A (n.-11+38491C>A) c.603C>A (p.Cys201Ter) c.396C>A (p.Cys132Ter) c.690C>A (p.Cys230Ter) | |
| 7 | g.50504028C>A | CA367539005 | DDC,FIGNL1 | c.746G>T (p.Cys249Phe) c.512G>T (p.Cys171Phe) c.388G>T c.467G>T (p.Cys156Phe) c.632G>T (p.Cys211Phe) c.-11+38490G>T (n.-11+38490G>T) c.602G>T (p.Cys201Phe) c.395G>T (p.Cys132Phe) c.689G>T (p.Cys230Phe) | |
| 7 | g.50504028C= | CA1706633575 | DDC,FIGNL1 | c.746G= (p.Cys249=) c.512G= (p.Cys171=) c.388G= c.467G= (p.Cys156=) c.632G= (p.Cys211=) c.-11+38490G= (n.-11+38490G=) c.602G= (p.Cys201=) c.395G= (p.Cys132=) c.689G= (p.Cys230=) | |
| 7 | g.50504028C>G | CA367539007 | DDC,FIGNL1 | c.746G>C (p.Cys249Ser) c.512G>C (p.Cys171Ser) c.388G>C c.467G>C (p.Cys156Ser) c.632G>C (p.Cys211Ser) c.-11+38490G>C (n.-11+38490G>C) c.602G>C (p.Cys201Ser) c.395G>C (p.Cys132Ser) c.689G>C (p.Cys230Ser) | dbSNP gnomAD v2 |
| 7 | g.50504028C>T | CA367539009 | DDC,FIGNL1 | c.746G>A (p.Cys249Tyr) c.512G>A (p.Cys171Tyr) c.388G>A c.467G>A (p.Cys156Tyr) c.632G>A (p.Cys211Tyr) c.-11+38490G>A (n.-11+38490G>A) c.602G>A (p.Cys201Tyr) c.395G>A (p.Cys132Tyr) c.689G>A (p.Cys230Tyr) | |
| 7 | g.50504029A>C | CA367539015 | DDC,FIGNL1 | c.745T>G (p.Cys249Gly) c.511T>G (p.Cys171Gly) c.387T>G c.466T>G (p.Cys156Gly) c.631T>G (p.Cys211Gly) c.-11+38489T>G (n.-11+38489T>G) c.601T>G (p.Cys201Gly) c.394T>G (p.Cys132Gly) c.688T>G (p.Cys230Gly) | |
| 7 | g.50504029A>G | CA367539013 | DDC,FIGNL1 | c.745T>C (p.Cys249Arg) c.511T>C (p.Cys171Arg) c.387T>C c.466T>C (p.Cys156Arg) c.631T>C (p.Cys211Arg) c.-11+38489T>C (n.-11+38489T>C) c.601T>C (p.Cys201Arg) c.394T>C (p.Cys132Arg) c.688T>C (p.Cys230Arg) | gnomAD v4 |
| 7 | g.50504029A>T | CA367539011 | DDC,FIGNL1 | c.745T>A (p.Cys249Ser) c.511T>A (p.Cys171Ser) c.387T>A c.466T>A (p.Cys156Ser) c.631T>A (p.Cys211Ser) c.-11+38489T>A (n.-11+38489T>A) c.601T>A (p.Cys201Ser) c.394T>A (p.Cys132Ser) c.688T>A (p.Cys230Ser) | |
| 7 | g.50504030G>A | CA454936314 | DDC,FIGNL1 | c.744C>T (p.Cys248=) c.510C>T (p.Cys170=) c.386C>T c.465C>T (p.Cys155=) c.630C>T (p.Cys210=) c.-11+38488C>T (n.-11+38488C>T) c.600C>T (p.Cys200=) c.393C>T (p.Cys131=) c.687C>T (p.Cys229=) | dbSNP gnomAD v2 |
| 7 | g.50504030G>C | CA367539019 | DDC,FIGNL1 | c.744C>G (p.Cys248Trp) c.510C>G (p.Cys170Trp) c.386C>G c.465C>G (p.Cys155Trp) c.630C>G (p.Cys210Trp) c.-11+38488C>G (n.-11+38488C>G) c.600C>G (p.Cys200Trp) c.393C>G (p.Cys131Trp) c.687C>G (p.Cys229Trp) | |
| 7 | g.50504030G= | CA1706633577 | DDC,FIGNL1 | c.744C= (p.Cys248=) c.510C= (p.Cys170=) c.386C= c.465C= (p.Cys155=) c.630C= (p.Cys210=) c.-11+38488C= (n.-11+38488C=) c.600C= (p.Cys200=) c.393C= (p.Cys131=) c.687C= (p.Cys229=) | |
| 7 | g.50504030G>T | CA367539017 | DDC,FIGNL1 | c.744C>A (p.Cys248Ter) c.510C>A (p.Cys170Ter) c.386C>A c.465C>A (p.Cys155Ter) c.630C>A (p.Cys210Ter) c.-11+38488C>A (n.-11+38488C>A) c.600C>A (p.Cys200Ter) c.393C>A (p.Cys131Ter) c.687C>A (p.Cys229Ter) | |
| 7 | g.50504031C>A | CA367539021 | DDC,FIGNL1 | c.743G>T (p.Cys248Phe) c.509G>T (p.Cys170Phe) c.385G>T c.464G>T (p.Cys155Phe) c.629G>T (p.Cys210Phe) c.-11+38487G>T (n.-11+38487G>T) c.599G>T (p.Cys200Phe) c.392G>T (p.Cys131Phe) c.686G>T (p.Cys229Phe) | |
| 7 | g.50504031C>G | CA367539023 | DDC,FIGNL1 | c.743G>C (p.Cys248Ser) c.509G>C (p.Cys170Ser) c.385G>C c.464G>C (p.Cys155Ser) c.629G>C (p.Cys210Ser) c.-11+38487G>C (n.-11+38487G>C) c.599G>C (p.Cys200Ser) c.392G>C (p.Cys131Ser) c.686G>C (p.Cys229Ser) | |
| 7 | g.50504031C>T | CA367539025 | DDC,FIGNL1 | c.743G>A (p.Cys248Tyr) c.509G>A (p.Cys170Tyr) c.385G>A c.464G>A (p.Cys155Tyr) c.629G>A (p.Cys210Tyr) c.-11+38487G>A (n.-11+38487G>A) c.599G>A (p.Cys200Tyr) c.392G>A (p.Cys131Tyr) c.686G>A (p.Cys229Tyr) | |
| 7 | g.50504032A>C | CA367539026 | DDC,FIGNL1 | c.742T>G (p.Cys248Gly) c.508T>G (p.Cys170Gly) c.384T>G c.463T>G (p.Cys155Gly) c.628T>G (p.Cys210Gly) c.-11+38486T>G (n.-11+38486T>G) c.598T>G (p.Cys200Gly) c.391T>G (p.Cys131Gly) c.685T>G (p.Cys229Gly) | gnomAD v4 |
| 7 | g.50504032A>G | CA367539028 | DDC,FIGNL1 | c.742T>C (p.Cys248Arg) c.508T>C (p.Cys170Arg) c.384T>C c.463T>C (p.Cys155Arg) c.628T>C (p.Cys210Arg) c.-11+38486T>C (n.-11+38486T>C) c.598T>C (p.Cys200Arg) c.391T>C (p.Cys131Arg) c.685T>C (p.Cys229Arg) | |
| 7 | g.50504032A>T | CA367539030 | DDC,FIGNL1 | c.742T>A (p.Cys248Ser) c.508T>A (p.Cys170Ser) c.384T>A c.463T>A (p.Cys155Ser) c.628T>A (p.Cys210Ser) c.-11+38486T>A (n.-11+38486T>A) c.598T>A (p.Cys200Ser) c.391T>A (p.Cys131Ser) c.685T>A (p.Cys229Ser) | |
| 7 | g.50504033T>A | CA454936322 | DDC,FIGNL1 | c.741A>T (p.Thr247=) c.507A>T (p.Thr169=) c.383A>T c.462A>T (p.Thr154=) c.627A>T (p.Thr209=) c.-11+38485A>T (n.-11+38485A>T) c.597A>T (p.Thr199=) c.390A>T (p.Thr130=) c.684A>T (p.Thr228=) | |
| 7 | g.50504033T>C | CA454936324 | DDC,FIGNL1 | c.741A>G (p.Thr247=) c.507A>G (p.Thr169=) c.383A>G c.462A>G (p.Thr154=) c.627A>G (p.Thr209=) c.-11+38485A>G (n.-11+38485A>G) c.597A>G (p.Thr199=) c.390A>G (p.Thr130=) c.684A>G (p.Thr228=) | ClinVar dbSNP |
| 7 | g.50504033T>G | CA454936326 | DDC,FIGNL1 | c.741A>C (p.Thr247=) c.507A>C (p.Thr169=) c.383A>C c.462A>C (p.Thr154=) c.627A>C (p.Thr209=) c.-11+38485A>C (n.-11+38485A>C) c.597A>C (p.Thr199=) c.390A>C (p.Thr130=) c.684A>C (p.Thr228=) | |
| 7 | g.50504034G>A | CA367539032 | DDC,FIGNL1 | c.740C>T (p.Thr247Ile) c.506C>T (p.Thr169Ile) c.382C>T c.461C>T (p.Thr154Ile) c.626C>T (p.Thr209Ile) c.-11+38484C>T (n.-11+38484C>T) c.596C>T (p.Thr199Ile) c.389C>T (p.Thr130Ile) c.683C>T (p.Thr228Ile) | |
| 7 | g.50504034G>C | CA367539034 | DDC,FIGNL1 | c.740C>G (p.Thr247Arg) c.506C>G (p.Thr169Arg) c.382C>G c.461C>G (p.Thr154Arg) c.626C>G (p.Thr209Arg) c.-11+38484C>G (n.-11+38484C>G) c.596C>G (p.Thr199Arg) c.389C>G (p.Thr130Arg) c.683C>G (p.Thr228Arg) | |
| 7 | g.50504034G>T | CA367539036 | DDC,FIGNL1 | c.740C>A (p.Thr247Lys) c.506C>A (p.Thr169Lys) c.382C>A c.461C>A (p.Thr154Lys) c.626C>A (p.Thr209Lys) c.-11+38484C>A (n.-11+38484C>A) c.596C>A (p.Thr199Lys) c.389C>A (p.Thr130Lys) c.683C>A (p.Thr228Lys) | |
| 7 | g.50504035T>A | CA367539038 | DDC,FIGNL1 | c.739A>T (p.Thr247Ser) c.505A>T (p.Thr169Ser) c.381A>T c.460A>T (p.Thr154Ser) c.625A>T (p.Thr209Ser) c.-11+38483A>T (n.-11+38483A>T) c.595A>T (p.Thr199Ser) c.388A>T (p.Thr130Ser) c.682A>T (p.Thr228Ser) | |
| 7 | g.50504035T>C | CA158229933 | DDC,FIGNL1 | c.739A>G (p.Thr247Ala) c.505A>G (p.Thr169Ala) c.381A>G c.460A>G (p.Thr154Ala) c.625A>G (p.Thr209Ala) c.-11+38483A>G (n.-11+38483A>G) c.595A>G (p.Thr199Ala) c.388A>G (p.Thr130Ala) c.682A>G (p.Thr228Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50504035T>G | CA367539041 | DDC,FIGNL1 | c.739A>C (p.Thr247Pro) c.505A>C (p.Thr169Pro) c.381A>C c.460A>C (p.Thr154Pro) c.625A>C (p.Thr209Pro) c.-11+38483A>C (n.-11+38483A>C) c.595A>C (p.Thr199Pro) c.388A>C (p.Thr130Pro) c.682A>C (p.Thr228Pro) | |
| 7 | g.50504035T= | CA1706633580 | DDC,FIGNL1 | c.739A= (p.Thr247=) c.505A= (p.Thr169=) c.381A= c.460A= (p.Thr154=) c.625A= (p.Thr209=) c.-11+38483A= (n.-11+38483A=) c.595A= (p.Thr199=) c.388A= (p.Thr130=) c.682A= (p.Thr228=) | |
| 7 | g.50504036T>A | CA454936334 | DDC,FIGNL1 | c.738A>T (p.Thr246=) c.504A>T (p.Thr168=) c.380A>T c.459A>T (p.Thr153=) c.624A>T (p.Thr208=) c.-11+38482A>T (n.-11+38482A>T) c.594A>T (p.Thr198=) c.387A>T (p.Thr129=) c.681A>T (p.Thr227=) | gnomAD v4 |
| 7 | g.50504036T>C | CA454936336 | DDC,FIGNL1 | c.738A>G (p.Thr246=) c.504A>G (p.Thr168=) c.380A>G c.459A>G (p.Thr153=) c.624A>G (p.Thr208=) c.-11+38482A>G (n.-11+38482A>G) c.594A>G (p.Thr198=) c.387A>G (p.Thr129=) c.681A>G (p.Thr227=) | gnomAD v4 |
| 7 | g.50504036T>G | CA454936337 | DDC,FIGNL1 | c.738A>C (p.Thr246=) c.504A>C (p.Thr168=) c.380A>C c.459A>C (p.Thr153=) c.624A>C (p.Thr208=) c.-11+38482A>C (n.-11+38482A>C) c.594A>C (p.Thr198=) c.387A>C (p.Thr129=) c.681A>C (p.Thr227=) | |
| 7 | g.50504037G>A | CA367539047 | DDC,FIGNL1 | c.737C>T (p.Thr246Ile) c.503C>T (p.Thr168Ile) c.379C>T c.458C>T (p.Thr153Ile) c.623C>T (p.Thr208Ile) c.-11+38481C>T (n.-11+38481C>T) c.593C>T (p.Thr198Ile) c.386C>T (p.Thr129Ile) c.680C>T (p.Thr227Ile) | |
| 7 | g.50504037G>C | CA367539043 | DDC,FIGNL1 | c.737C>G (p.Thr246Arg) c.503C>G (p.Thr168Arg) c.379C>G c.458C>G (p.Thr153Arg) c.623C>G (p.Thr208Arg) c.-11+38481C>G (n.-11+38481C>G) c.593C>G (p.Thr198Arg) c.386C>G (p.Thr129Arg) c.680C>G (p.Thr227Arg) | |
| 7 | g.50504037G>T | CA367539045 | DDC,FIGNL1 | c.737C>A (p.Thr246Lys) c.503C>A (p.Thr168Lys) c.379C>A c.458C>A (p.Thr153Lys) c.623C>A (p.Thr208Lys) c.-11+38481C>A (n.-11+38481C>A) c.593C>A (p.Thr198Lys) c.386C>A (p.Thr129Lys) c.680C>A (p.Thr227Lys) | |
| 7 | g.50504038T>A | CA367539049 | DDC,FIGNL1 | c.736A>T (p.Thr246Ser) c.502A>T (p.Thr168Ser) c.378A>T c.457A>T (p.Thr153Ser) c.622A>T (p.Thr208Ser) c.-11+38480A>T (n.-11+38480A>T) c.592A>T (p.Thr198Ser) c.385A>T (p.Thr129Ser) c.679A>T (p.Thr227Ser) | |
| 7 | g.50504038T>C | CA158229934 | DDC,FIGNL1 | c.736A>G (p.Thr246Ala) c.502A>G (p.Thr168Ala) c.378A>G c.457A>G (p.Thr153Ala) c.622A>G (p.Thr208Ala) c.-11+38480A>G (n.-11+38480A>G) c.592A>G (p.Thr198Ala) c.385A>G (p.Thr129Ala) c.679A>G (p.Thr227Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50504038T>G | CA367539051 | DDC,FIGNL1 | c.736A>C (p.Thr246Pro) c.502A>C (p.Thr168Pro) c.378A>C c.457A>C (p.Thr153Pro) c.622A>C (p.Thr208Pro) c.-11+38480A>C (n.-11+38480A>C) c.592A>C (p.Thr198Pro) c.385A>C (p.Thr129Pro) c.679A>C (p.Thr227Pro) | |
| 7 | g.50504038T= | CA1706633585 | DDC,FIGNL1 | c.736A= (p.Thr246=) c.502A= (p.Thr168=) c.378A= c.457A= (p.Thr153=) c.622A= (p.Thr208=) c.-11+38480A= (n.-11+38480A=) c.592A= (p.Thr198=) c.385A= (p.Thr129=) c.679A= (p.Thr227=) | |
| 7 | g.50504039G>A | CA454936345 | DDC,FIGNL1 | c.735C>T (p.Thr245=) c.501C>T (p.Thr167=) c.377C>T c.456C>T (p.Thr152=) c.621C>T (p.Thr207=) c.-11+38479C>T (n.-11+38479C>T) c.591C>T (p.Thr197=) c.384C>T (p.Thr128=) c.678C>T (p.Thr226=) | gnomAD v4 |
| 7 | g.50504039G>C | CA454936347 | DDC,FIGNL1 | c.735C>G (p.Thr245=) c.501C>G (p.Thr167=) c.377C>G c.456C>G (p.Thr152=) c.621C>G (p.Thr207=) c.-11+38479C>G (n.-11+38479C>G) c.591C>G (p.Thr197=) c.384C>G (p.Thr128=) c.678C>G (p.Thr226=) |