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 |
|---|---|---|---|---|---|
| X | g.108591085del | CA2579676149 | COL4A5 | c.1193del (p.Pro398LeufsTer?) n.649del c.869del (p.Pro290LeufsTer?) c.1208del (p.Pro403LeufsTer?) c.-517del (n.-517del) | |
| X | g.108591085C>A | CA413932223 | COL4A5 | c.1193C>A (p.Pro398His) n.649C>A c.869C>A (p.Pro290His) c.1208C>A (p.Pro403His) c.-517C>A (n.-517C>A) | gnomAD v4 |
| X | g.108591085C>G | CA413932224 | COL4A5 | c.1193C>G (p.Pro398Arg) n.649C>G c.869C>G (p.Pro290Arg) c.1208C>G (p.Pro403Arg) c.-517C>G (n.-517C>G) | |
| X | g.108591085C>T | CA413932225 | COL4A5 | c.1193C>T (p.Pro398Leu) n.649C>T c.869C>T (p.Pro290Leu) c.1208C>T (p.Pro403Leu) c.-517C>T (n.-517C>T) | |
| X | g.108591086T>A | CA517992152 | COL4A5 | c.1194T>A (p.Pro398=) n.650T>A c.870T>A (p.Pro290=) c.1209T>A (p.Pro403=) c.-516T>A (n.-516T>A) | |
| X | g.108591086T>C | CA517992153 | COL4A5 | c.1194T>C (p.Pro398=) n.650T>C c.870T>C (p.Pro290=) c.1209T>C (p.Pro403=) c.-516T>C (n.-516T>C) | COSMIC COSMIC |
| X | g.108591086T>G | CA517992154 | COL4A5 | c.1194T>G (p.Pro398=) n.650T>G c.870T>G (p.Pro290=) c.1209T>G (p.Pro403=) c.-516T>G (n.-516T>G) | |
| X | g.108591087C>A | CA413932226 | COL4A5 | c.1195C>A (p.Pro399Thr) n.651C>A c.871C>A (p.Pro291Thr) c.1210C>A (p.Pro404Thr) c.-515C>A (n.-515C>A) | |
| X | g.108591087C>G | CA413932227 | COL4A5 | c.1195C>G (p.Pro399Ala) n.651C>G c.871C>G (p.Pro291Ala) c.1210C>G (p.Pro404Ala) c.-515C>G (n.-515C>G) | gnomAD v4 |
| X | g.108591087C>T | CA413932229 | COL4A5 | c.1195C>T (p.Pro399Ser) n.651C>T c.871C>T (p.Pro291Ser) c.1210C>T (p.Pro404Ser) c.-515C>T (n.-515C>T) | |
| X | g.108591088C>A | CA413932232 | COL4A5 | c.1196C>A (p.Pro399His) n.652C>A c.872C>A (p.Pro291His) c.1211C>A (p.Pro404His) c.-514C>A (n.-514C>A) | |
| X | g.108591088C>G | CA413932244 | COL4A5 | c.1196C>G (p.Pro399Arg) n.652C>G c.872C>G (p.Pro291Arg) c.1211C>G (p.Pro404Arg) c.-514C>G (n.-514C>G) | |
| X | g.108591088C>T | CA413932234 | COL4A5 | c.1196C>T (p.Pro399Leu) n.652C>T c.872C>T (p.Pro291Leu) c.1211C>T (p.Pro404Leu) c.-514C>T (n.-514C>T) | gnomAD v4 |
| X | g.108591089T>A | CA517992155 | COL4A5 | c.1197T>A (p.Pro399=) n.653T>A c.873T>A (p.Pro291=) c.1212T>A (p.Pro404=) c.-513T>A (n.-513T>A) | |
| X | g.108591089T>C | CA517992156 | COL4A5 | c.1197T>C (p.Pro399=) n.653T>C c.873T>C (p.Pro291=) c.1212T>C (p.Pro404=) c.-513T>C (n.-513T>C) | |
| X | g.108591089T>G | CA517992157 | COL4A5 | c.1197T>G (p.Pro399=) n.653T>G c.873T>G (p.Pro291=) c.1212T>G (p.Pro404=) c.-513T>G (n.-513T>G) | |
| X | g.108591090G>A | CA413932247 | COL4A5 | c.1198G>A (p.Gly400Arg) n.654G>A c.874G>A (p.Gly292Arg) c.1213G>A (p.Gly405Arg) c.-512G>A (n.-512G>A) | |
| X | g.108591090G>C | CA413932249 | COL4A5 | c.1198G>C (p.Gly400Arg) n.654G>C c.874G>C (p.Gly292Arg) c.1213G>C (p.Gly405Arg) c.-512G>C (n.-512G>C) | |
| X | g.108591090G= | CA2450686396 | COL4A5 | c.1198G= (p.Gly400=) n.654G= c.874G= (p.Gly292=) c.1213G= (p.Gly405=) c.-512G= (n.-512G=) | |
| X | g.108591090G>T | CA413932251 | COL4A5 | c.1198G>T (p.Gly400Ter) n.654G>T c.874G>T (p.Gly292Ter) c.1213G>T (p.Gly405Ter) c.-512G>T (n.-512G>T) | ClinVar dbSNP |
| 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) |