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.108577953_108577971del | CA258288 | COL4A5 | c.611_629del c.287_305del c.626_644del | dbSNP |
| X | g.108577969A>C | CA517991728 | COL4A5 | c.627A>C (p.Pro209=) c.303A>C (p.Pro101=) c.642A>C (p.Pro214=) | |
| X | g.108577969A>G | CA517991729 | COL4A5 | c.627A>G (p.Pro209=) c.303A>G (p.Pro101=) c.642A>G (p.Pro214=) | gnomAD v4 |
| X | g.108577969A>T | CA517991730 | COL4A5 | c.627A>T (p.Pro209=) c.303A>T (p.Pro101=) c.642A>T (p.Pro214=) | |
| X | g.108577970G>A | CA413923113 | COL4A5 | c.628G>A (p.Gly210Arg) c.304G>A (p.Gly102Arg) c.643G>A (p.Gly215Arg) | |
| X | g.108577970G>C | CA413923116 | COL4A5 | c.628G>C (p.Gly210Arg) c.304G>C (p.Gly102Arg) c.643G>C (p.Gly215Arg) | |
| X | g.108577970G>T | CA413923119 | COL4A5 | c.628G>T (p.Gly210Ter) c.304G>T (p.Gly102Ter) c.643G>T (p.Gly215Ter) | COSMIC COSMIC |
| X | g.108577971G>A | CA413923124 | COL4A5 | c.629G>A (p.Gly210Glu) c.305G>A (p.Gly102Glu) c.644G>A (p.Gly215Glu) | ClinVar dbSNP |
| X | g.108577971G>C | CA413923128 | COL4A5 | c.629G>C (p.Gly210Ala) c.305G>C (p.Gly102Ala) c.644G>C (p.Gly215Ala) | |
| X | g.108577971G>T | CA413923138 | COL4A5 | c.629G>T (p.Gly210Val) c.305G>T (p.Gly102Val) c.644G>T (p.Gly215Val) | |
| X | g.108577972A>C | CA517991731 | COL4A5 | c.630A>C (p.Gly210=) c.306A>C (p.Gly102=) c.645A>C (p.Gly215=) | |
| X | g.108577972A>G | CA517991732 | COL4A5 | c.630A>G (p.Gly210=) c.306A>G (p.Gly102=) c.645A>G (p.Gly215=) | |
| X | g.108577972A>T | CA517991733 | COL4A5 | c.630A>T (p.Gly210=) c.306A>T (p.Gly102=) c.645A>T (p.Gly215=) | |
| X | g.108577973C>A | CA413923157 | COL4A5 | c.631C>A (p.Leu211Ile) c.307C>A (p.Leu103Ile) c.646C>A (p.Leu216Ile) | |
| X | g.108577973C>G | CA413923172 | COL4A5 | c.631C>G (p.Leu211Val) c.307C>G (p.Leu103Val) c.646C>G (p.Leu216Val) | |
| X | g.108577973C>T | CA413923174 | COL4A5 | c.631C>T (p.Leu211Phe) c.307C>T (p.Leu103Phe) c.646C>T (p.Leu216Phe) | |
| X | g.108577974T>A | CA413923186 | COL4A5 | c.632T>A (p.Leu211His) c.308T>A (p.Leu103His) c.647T>A (p.Leu216His) | |
| X | g.108577974T>C | CA413923189 | COL4A5 | c.632T>C (p.Leu211Pro) c.308T>C (p.Leu103Pro) c.647T>C (p.Leu216Pro) | gnomAD v4 |
| X | g.108577974T>G | CA413923182 | COL4A5 | c.632T>G (p.Leu211Arg) c.308T>G (p.Leu103Arg) c.647T>G (p.Leu216Arg) | |
| X | g.108577975T>A | CA517991734 | COL4A5 | c.633T>A (p.Leu211=) c.309T>A (p.Leu103=) c.648T>A (p.Leu216=) | |
| X | g.108577975T>C | CA517991735 | COL4A5 | c.633T>C (p.Leu211=) c.309T>C (p.Leu103=) c.648T>C (p.Leu216=) | |
| X | g.108577975T>G | CA517991736 | COL4A5 | c.633T>G (p.Leu211=) c.309T>G (p.Leu103=) c.648T>G (p.Leu216=) | |
| X | g.108577975_108577976delinsTC | CA2450682175 | COL4A5 | c.633_634delinsTC (p.Leu211=) c.309_310delinsTC (p.Leu103=) c.648_649delinsTC (p.Leu216=) | |
| X | g.108577976C>A | CA413923195 | COL4A5 | c.634C>A (p.Pro212Thr) c.310C>A (p.Pro104Thr) c.649C>A (p.Pro217Thr) | |
| X | g.108577976C>G | CA413923202 | COL4A5 | c.634C>G (p.Pro212Ala) c.310C>G (p.Pro104Ala) c.649C>G (p.Pro217Ala) | |
| X | g.108577976C>T | CA413923207 | COL4A5 | c.634C>T (p.Pro212Ser) c.310C>T (p.Pro104Ser) c.649C>T (p.Pro217Ser) | |
| X | g.108577977del | CA258295 | COL4A5 | c.635del (p.Pro212GlnfsTer9) c.311del (p.Pro104GlnfsTer9) c.650del (p.Pro217GlnfsTer9) | ClinVar dbSNP |
| X | g.108577976_108577978del | CA2695235186 | COL4A5 | c.634_636del (p.Pro212del) c.310_312del (p.Pro104del) c.649_651del (p.Pro217del) | |
| X | g.108577977C>A | CA413923215 | COL4A5 | c.635C>A (p.Pro212Gln) c.311C>A (p.Pro104Gln) c.650C>A (p.Pro217Gln) | |
| X | g.108577977C>G | CA413923210 | COL4A5 | c.635C>G (p.Pro212Arg) c.311C>G (p.Pro104Arg) c.650C>G (p.Pro217Arg) | |
| X | g.108577977C>T | CA413923209 | COL4A5 | c.635C>T (p.Pro212Leu) c.311C>T (p.Pro104Leu) c.650C>T (p.Pro217Leu) | |
| X | g.108577978A>C | CA517991737 | COL4A5 | c.636A>C (p.Pro212=) c.312A>C (p.Pro104=) c.651A>C (p.Pro217=) | |
| X | g.108577978A>G | CA517991739 | COL4A5 | c.636A>G (p.Pro212=) c.312A>G (p.Pro104=) c.651A>G (p.Pro217=) | |
| X | g.108577978A>T | CA517991738 | COL4A5 | c.636A>T (p.Pro212=) c.312A>T (p.Pro104=) c.651A>T (p.Pro217=) | |
| X | g.108577979G>A | CA334180201 | COL4A5 | c.637G>A (p.Gly213Arg) c.313G>A (p.Gly105Arg) c.652G>A (p.Gly218Arg) | dbSNP |
| X | g.108577979G>C | CA413923223 | COL4A5 | c.637G>C (p.Gly213Arg) c.313G>C (p.Gly105Arg) c.652G>C (p.Gly218Arg) | ClinVar dbSNP |
| X | g.108577979G= | CA2450682176 | COL4A5 | c.637G= (p.Gly213=) c.313G= (p.Gly105=) c.652G= (p.Gly218=) | |
| X | g.108577979G>T | CA413923227 | COL4A5 | c.637G>T (p.Gly213Ter) c.313G>T (p.Gly105Ter) c.652G>T (p.Gly218Ter) | |
| X | g.108577980G>A | CA258296 | COL4A5 | c.638G>A (p.Gly213Glu) c.314G>A (p.Gly105Glu) c.653G>A (p.Gly218Glu) | ClinVar dbSNP |
| X | g.108577980G>C | CA413923234 | COL4A5 | c.638G>C (p.Gly213Ala) c.314G>C (p.Gly105Ala) c.653G>C (p.Gly218Ala) | |
| X | g.108577980G= | CA2450682177 | COL4A5 | c.638G= (p.Gly213=) c.314G= (p.Gly105=) c.653G= (p.Gly218=) | |
| X | g.108577980G>T | CA413923235 | COL4A5 | c.638G>T (p.Gly213Val) c.314G>T (p.Gly105Val) c.653G>T (p.Gly218Val) | ClinVar dbSNP |
| X | g.108577981A>C | CA517991740 | COL4A5 | c.639A>C (p.Gly213=) c.315A>C (p.Gly105=) c.654A>C (p.Gly218=) | |
| X | g.108577981A>G | CA517991741 | COL4A5 | c.639A>G (p.Gly213=) c.315A>G (p.Gly105=) c.654A>G (p.Gly218=) | ClinVar dbSNP gnomAD v4 |
| X | g.108577981A>T | CA517991742 | COL4A5 | c.639A>T (p.Gly213=) c.315A>T (p.Gly105=) c.654A>T (p.Gly218=) | COSMIC COSMIC |
| X | g.108577982C>A | CA413923241 | COL4A5 | c.640C>A (p.Pro214Thr) c.316C>A (p.Pro106Thr) c.655C>A (p.Pro219Thr) | |
| X | g.108577982C>G | CA413923245 | COL4A5 | c.640C>G (p.Pro214Ala) c.316C>G (p.Pro106Ala) c.655C>G (p.Pro219Ala) | |
| X | g.108577982C>T | CA413923243 | COL4A5 | c.640C>T (p.Pro214Ser) c.316C>T (p.Pro106Ser) c.655C>T (p.Pro219Ser) | |
| X | g.108577983C>A | CA413923250 | COL4A5 | c.641C>A (p.Pro214His) c.317C>A (p.Pro106His) c.656C>A (p.Pro219His) | |
| X | g.108577983C>G | CA413923252 | COL4A5 | c.641C>G (p.Pro214Arg) c.317C>G (p.Pro106Arg) c.656C>G (p.Pro219Arg) |