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 |
|---|---|---|---|---|---|
| X | g.108591091G>A | CA258420 | COL4A5 | c.1199G>A (p.Gly400Glu) n.655G>A c.875G>A (p.Gly292Glu) c.1214G>A (p.Gly405Glu) c.-511G>A (n.-511G>A) | ClinVar dbSNP |
| X | g.108591091G>C | CA413932253 | COL4A5 | c.1199G>C (p.Gly400Ala) n.655G>C c.875G>C (p.Gly292Ala) c.1214G>C (p.Gly405Ala) c.-511G>C (n.-511G>C) | |
| X | g.108591091G= | CA2450686397 | COL4A5 | c.1199G= (p.Gly400=) n.655G= c.875G= (p.Gly292=) c.1214G= (p.Gly405=) c.-511G= (n.-511G=) | |
| X | g.108591091G>T | CA413932254 | COL4A5 | c.1199G>T (p.Gly400Val) n.655G>T c.875G>T (p.Gly292Val) c.1214G>T (p.Gly405Val) c.-511G>T (n.-511G>T) | |
| X | g.108591092A>C | CA517992158 | COL4A5 | c.1200A>C (p.Gly400=) n.656A>C c.876A>C (p.Gly292=) c.1215A>C (p.Gly405=) c.-510A>C (n.-510A>C) | |
| X | g.108591092A>G | CA517992159 | COL4A5 | c.1200A>G (p.Gly400=) n.656A>G c.876A>G (p.Gly292=) c.1215A>G (p.Gly405=) c.-510A>G (n.-510A>G) | COSMIC COSMIC |
| X | g.108591092A>T | CA517992160 | COL4A5 | c.1200A>T (p.Gly400=) n.656A>T c.876A>T (p.Gly292=) c.1215A>T (p.Gly405=) c.-510A>T (n.-510A>T) | |
| X | g.108591093T>A | CA413932257 | COL4A5 | c.1201T>A (p.Phe401Ile) n.657T>A c.877T>A (p.Phe293Ile) c.1216T>A (p.Phe406Ile) c.-509T>A (n.-509T>A) | |
| X | g.108591093T>C | CA413932260 | COL4A5 | c.1201T>C (p.Phe401Leu) n.657T>C c.877T>C (p.Phe293Leu) c.1216T>C (p.Phe406Leu) c.-509T>C (n.-509T>C) | |
| X | g.108591093T>G | CA413932263 | COL4A5 | c.1201T>G (p.Phe401Val) n.657T>G c.877T>G (p.Phe293Val) c.1216T>G (p.Phe406Val) c.-509T>G (n.-509T>G) | gnomAD v4 |
| X | g.108591094T>A | CA413932271 | COL4A5 | c.1202T>A (p.Phe401Tyr) n.658T>A c.878T>A (p.Phe293Tyr) c.1217T>A (p.Phe406Tyr) c.-508T>A (n.-508T>A) | |
| X | g.108591094T>C | CA413932269 | COL4A5 | c.1202T>C (p.Phe401Ser) n.658T>C c.878T>C (p.Phe293Ser) c.1217T>C (p.Phe406Ser) c.-508T>C (n.-508T>C) | |
| X | g.108591094T>G | CA413932266 | COL4A5 | c.1202T>G (p.Phe401Cys) n.658T>G c.878T>G (p.Phe293Cys) c.1217T>G (p.Phe406Cys) c.-508T>G (n.-508T>G) | |
| X | g.108591095T>A | CA413932275 | COL4A5 | c.1203T>A (p.Phe401Leu) n.659T>A c.879T>A (p.Phe293Leu) c.1218T>A (p.Phe406Leu) c.-507T>A (n.-507T>A) | |
| X | g.108591095T>C | CA517992161 | COL4A5 | c.1203T>C (p.Phe401=) n.659T>C c.879T>C (p.Phe293=) c.1218T>C (p.Phe406=) c.-507T>C (n.-507T>C) | |
| X | g.108591095T>G | CA413932276 | COL4A5 | c.1203T>G (p.Phe401Leu) n.659T>G c.879T>G (p.Phe293Leu) c.1218T>G (p.Phe406Leu) c.-507T>G (n.-507T>G) | |
| X | g.108591096C>A | CA413932279 | COL4A5 | c.1204C>A (p.Pro402Thr) n.660C>A c.880C>A (p.Pro294Thr) c.1219C>A (p.Pro407Thr) c.-506C>A (n.-506C>A) | |
| X | g.108591096C>G | CA413932281 | COL4A5 | c.1204C>G (p.Pro402Ala) n.660C>G c.880C>G (p.Pro294Ala) c.1219C>G (p.Pro407Ala) c.-506C>G (n.-506C>G) | |
| X | g.108591096C>T | CA413932285 | COL4A5 | c.1204C>T (p.Pro402Ser) n.660C>T c.880C>T (p.Pro294Ser) c.1219C>T (p.Pro407Ser) c.-506C>T (n.-506C>T) | |
| X | g.108591097C>A | CA413932290 | COL4A5 | c.1205C>A (p.Pro402His) n.661C>A c.881C>A (p.Pro294His) c.1220C>A (p.Pro407His) c.-505C>A (n.-505C>A) | |
| X | g.108591097C>G | CA413932288 | COL4A5 | c.1205C>G (p.Pro402Arg) n.661C>G c.881C>G (p.Pro294Arg) c.1220C>G (p.Pro407Arg) c.-505C>G (n.-505C>G) | |
| X | g.108591097C>T | CA413932287 | COL4A5 | c.1205C>T (p.Pro402Leu) n.661C>T c.881C>T (p.Pro294Leu) c.1220C>T (p.Pro407Leu) c.-505C>T (n.-505C>T) | |
| X | g.108591098T>A | CA517992164 | COL4A5 | c.1206T>A (p.Pro402=) n.662T>A c.882T>A (p.Pro294=) c.1221T>A (p.Pro407=) c.-504T>A (n.-504T>A) | |
| X | g.108591098T>C | CA517992162 | COL4A5 | c.1206T>C (p.Pro402=) n.662T>C c.882T>C (p.Pro294=) c.1221T>C (p.Pro407=) c.-504T>C (n.-504T>C) | |
| X | g.108591098T>G | CA517992163 | COL4A5 | c.1206T>G (p.Pro402=) n.662T>G c.882T>G (p.Pro294=) c.1221T>G (p.Pro407=) c.-504T>G (n.-504T>G) | gnomAD v4 |
| X | g.108591099G>A | CA413932293 | COL4A5 | c.1207G>A (p.Gly403Arg) n.663G>A c.883G>A (p.Gly295Arg) c.1222G>A (p.Gly408Arg) c.-503G>A (n.-503G>A) | |
| X | g.108591099G>C | CA413932295 | COL4A5 | c.1207G>C (p.Gly403Arg) n.663G>C c.883G>C (p.Gly295Arg) c.1222G>C (p.Gly408Arg) c.-503G>C (n.-503G>C) | |
| X | g.108591099G>T | CA413932299 | COL4A5 | c.1207G>T (p.Gly403Ter) n.663G>T c.883G>T (p.Gly295Ter) c.1222G>T (p.Gly408Ter) c.-503G>T (n.-503G>T) | |
| X | g.108591100G>A | CA413932302 | COL4A5 | c.1208G>A (p.Gly403Glu) n.664G>A c.884G>A (p.Gly295Glu) c.1223G>A (p.Gly408Glu) c.-502G>A (n.-502G>A) | ClinVar |
| X | g.108591100G>C | CA413932305 | COL4A5 | c.1208G>C (p.Gly403Ala) n.664G>C c.884G>C (p.Gly295Ala) c.1223G>C (p.Gly408Ala) c.-502G>C (n.-502G>C) | |
| X | g.108591100G= | CA2450686398 | COL4A5 | c.1208G= (p.Gly403=) n.664G= c.884G= (p.Gly295=) c.1223G= (p.Gly408=) c.-502G= (n.-502G=) | |
| X | g.108591100G>T | CA258422 | COL4A5 | c.1208G>T (p.Gly403Val) n.664G>T c.884G>T (p.Gly295Val) c.1223G>T (p.Gly408Val) c.-502G>T (n.-502G>T) | dbSNP |
| X | g.108591101A>C | CA517992165 | COL4A5 | c.1209A>C (p.Gly403=) n.665A>C c.885A>C (p.Gly295=) c.1224A>C (p.Gly408=) c.-501A>C (n.-501A>C) | |
| X | g.108591101A>G | CA517992166 | COL4A5 | c.1209A>G (p.Gly403=) n.665A>G c.885A>G (p.Gly295=) c.1224A>G (p.Gly408=) c.-501A>G (n.-501A>G) | |
| X | g.108591101A>T | CA517992167 | COL4A5 | c.1209A>T (p.Gly403=) n.665A>T c.885A>T (p.Gly295=) c.1224A>T (p.Gly408=) c.-501A>T (n.-501A>T) | |
| X | g.108591102G>A | CA413932310 | COL4A5 | c.1210G>A (p.Glu404Lys) n.666G>A c.886G>A (p.Glu296Lys) c.1225G>A (p.Glu409Lys) c.-500G>A (n.-500G>A) | |
| X | g.108591102G>C | CA413932312 | COL4A5 | c.1210G>C (p.Glu404Gln) n.666G>C c.886G>C (p.Glu296Gln) c.1225G>C (p.Glu409Gln) c.-500G>C (n.-500G>C) | |
| X | g.108591102G= | CA2450686399 | COL4A5 | c.1210G= (p.Glu404=) n.666G= c.886G= (p.Glu296=) c.1225G= (p.Glu409=) c.-500G= (n.-500G=) | |
| X | g.108591102G>T | CA413932311 | COL4A5 | c.1210G>T (p.Glu404Ter) n.666G>T c.886G>T (p.Glu296Ter) c.1225G>T (p.Glu409Ter) c.-500G>T (n.-500G>T) | |
| X | g.108591103A>C | CA413932315 | COL4A5 | c.1211A>C (p.Glu404Ala) n.667A>C c.887A>C (p.Glu296Ala) c.1226A>C (p.Glu409Ala) c.-499A>C (n.-499A>C) | |
| X | g.108591103A>G | CA413932322 | COL4A5 | c.1211A>G (p.Glu404Gly) n.667A>G c.887A>G (p.Glu296Gly) c.1226A>G (p.Glu409Gly) c.-499A>G (n.-499A>G) | gnomAD v4 |
| X | g.108591103A>T | CA413932324 | COL4A5 | c.1211A>T (p.Glu404Val) n.667A>T c.887A>T (p.Glu296Val) c.1226A>T (p.Glu409Val) c.-499A>T (n.-499A>T) | |
| X | g.108591105dup | CA258425 | COL4A5 | c.1213dup (p.Arg405LysfsTer6) n.669dup c.889dup (p.Arg297LysfsTer6) c.1228dup (p.Arg410LysfsTer6) c.-497dup (n.-497dup) | dbSNP |
| X | g.108591104A>C | CA413932325 | COL4A5 | c.1212A>C (p.Glu404Asp) n.668A>C c.888A>C (p.Glu296Asp) c.1227A>C (p.Glu409Asp) c.-498A>C (n.-498A>C) | |
| X | g.108591104A>G | CA517992168 | COL4A5 | c.1212A>G (p.Glu404=) n.668A>G c.888A>G (p.Glu296=) c.1227A>G (p.Glu409=) c.-498A>G (n.-498A>G) | |
| X | g.108591104A>T | CA413932326 | COL4A5 | c.1212A>T (p.Glu404Asp) n.668A>T c.888A>T (p.Glu296Asp) c.1227A>T (p.Glu409Asp) c.-498A>T (n.-498A>T) | |
| X | g.108591105A= | CA2450686400 | COL4A5 | c.1213A= (p.Arg405=) n.669A= c.889A= (p.Arg297=) c.1228A= (p.Arg410=) c.-497A= (n.-497A=) | |
| X | g.108591105A>C | CA517992169 | COL4A5 | c.1213A>C (p.Arg405=) n.669A>C c.889A>C (p.Arg297=) c.1228A>C (p.Arg410=) c.-497A>C (n.-497A>C) | |
| X | g.108591105A>G | CA413932327 | COL4A5 | c.1213A>G (p.Arg405Gly) n.669A>G c.889A>G (p.Arg297Gly) c.1228A>G (p.Arg410Gly) c.-497A>G (n.-497A>G) | |
| X | g.108591105A>T | CA413932328 | COL4A5 | c.1213A>T (p.Arg405Trp) n.669A>T c.889A>T (p.Arg297Trp) c.1228A>T (p.Arg410Trp) c.-497A>T (n.-497A>T) |