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.108571822G>A | CA517991579 | COL4A5 | c.450G>A (p.Gly150=) c.126G>A (p.Gly42=) c.465G>A (p.Gly155=) | |
| X | g.108571822G>C | CA517991580 | COL4A5 | c.450G>C (p.Gly150=) c.126G>C (p.Gly42=) c.465G>C (p.Gly155=) | |
| X | g.108571822G= | CA2450680241 | COL4A5 | c.450G= (p.Gly150=) c.126G= (p.Gly42=) c.465G= (p.Gly155=) | |
| X | g.108571822G>T | CA334179259 | COL4A5 | c.450G>T (p.Gly150=) c.126G>T (p.Gly42=) c.465G>T (p.Gly155=) | dbSNP |
| X | g.108571823A= | CA2450680242 | COL4A5 | c.451A= (p.Ile151=) c.127A= (p.Ile43=) c.466A= (p.Ile156=) | |
| X | g.108571823A>C | CA413920428 | COL4A5 | c.451A>C (p.Ile151Leu) c.127A>C (p.Ile43Leu) c.466A>C (p.Ile156Leu) | |
| X | g.108571823A>G | CA413920434 | COL4A5 | c.451A>G (p.Ile151Val) c.127A>G (p.Ile43Val) c.466A>G (p.Ile156Val) | dbSNP gnomAD v4 |
| X | g.108571823A>T | CA413920436 | COL4A5 | c.451A>T (p.Ile151Phe) c.127A>T (p.Ile43Phe) c.466A>T (p.Ile156Phe) | |
| X | g.108571824T>A | CA413920439 | COL4A5 | c.452T>A (p.Ile151Asn) c.128T>A (p.Ile43Asn) c.467T>A (p.Ile156Asn) | dbSNP gnomAD v4 |
| X | g.108571824T>C | CA413920444 | COL4A5 | c.452T>C (p.Ile151Thr) c.128T>C (p.Ile43Thr) c.467T>C (p.Ile156Thr) | |
| X | g.108571824T>G | CA413920449 | COL4A5 | c.452T>G (p.Ile151Ser) c.128T>G (p.Ile43Ser) c.467T>G (p.Ile156Ser) | |
| X | g.108571825C>A | CA517991581 | COL4A5 | c.453C>A (p.Ile151=) c.129C>A (p.Ile43=) c.468C>A (p.Ile156=) | gnomAD v4 |
| X | g.108571825C>G | CA413920453 | COL4A5 | c.453C>G (p.Ile151Met) c.129C>G (p.Ile43Met) c.468C>G (p.Ile156Met) | |
| X | g.108571825C>T | CA517991582 | COL4A5 | c.453C>T (p.Ile151=) c.129C>T (p.Ile43=) c.468C>T (p.Ile156=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.108571825_108571827del | CA2695235600 | COL4A5 | c.453_455del (p.Pro152del) c.129_131del (p.Pro44del) c.468_470del (p.Pro157del) | |
| X | g.108571827del | CA2694439738 | COL4A5 | c.455del (p.Pro152GlnfsTer3) c.131del (p.Pro44GlnfsTer3) c.470del (p.Pro157GlnfsTer3) | gnomAD v4 |
| X | g.108571826C>A | CA413920473 | COL4A5 | c.454C>A (p.Pro152Thr) c.130C>A (p.Pro44Thr) c.469C>A (p.Pro157Thr) | |
| X | g.108571826C>G | CA413920477 | COL4A5 | c.454C>G (p.Pro152Ala) c.130C>G (p.Pro44Ala) c.469C>G (p.Pro157Ala) | gnomAD v4 |
| X | g.108571826C>T | CA413920480 | COL4A5 | c.454C>T (p.Pro152Ser) c.130C>T (p.Pro44Ser) c.469C>T (p.Pro157Ser) | |
| X | g.108571827C>A | CA413920489 | COL4A5 | c.455C>A (p.Pro152Gln) c.131C>A (p.Pro44Gln) c.470C>A (p.Pro157Gln) | gnomAD v4 |
| X | g.108571827C= | CA2450680243 | COL4A5 | c.455C= (p.Pro152=) c.131C= (p.Pro44=) c.470C= (p.Pro157=) | |
| X | g.108571827C>G | CA10488472 | COL4A5 | c.455C>G (p.Pro152Arg) c.131C>G (p.Pro44Arg) c.470C>G (p.Pro157Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108571827C>T | CA413920484 | COL4A5 | c.455C>T (p.Pro152Leu) c.131C>T (p.Pro44Leu) c.470C>T (p.Pro157Leu) | |
| X | g.108571828A>C | CA517991583 | COL4A5 | c.456A>C (p.Pro152=) c.132A>C (p.Pro44=) c.471A>C (p.Pro157=) | |
| X | g.108571828A>G | CA517991584 | COL4A5 | c.456A>G (p.Pro152=) c.132A>G (p.Pro44=) c.471A>G (p.Pro157=) | gnomAD v4 |
| X | g.108571828A>T | CA517991585 | COL4A5 | c.456A>T (p.Pro152=) c.132A>T (p.Pro44=) c.471A>T (p.Pro157=) | |
| X | g.108571829G>A | CA413920496 | COL4A5 | c.457G>A (p.Gly153Ser) c.133G>A (p.Gly45Ser) c.472G>A (p.Gly158Ser) | |
| X | g.108571829G>C | CA413920503 | COL4A5 | c.457G>C (p.Gly153Arg) c.133G>C (p.Gly45Arg) c.472G>C (p.Gly158Arg) | |
| X | g.108571829G>T | CA413920506 | COL4A5 | c.457G>T (p.Gly153Cys) c.133G>T (p.Gly45Cys) c.472G>T (p.Gly158Cys) | |
| X | g.108571830G>A | CA413920510 | COL4A5 | c.458G>A (p.Gly153Asp) c.134G>A (p.Gly45Asp) c.473G>A (p.Gly158Asp) | gnomAD v4 |
| X | g.108571830G>C | CA413920512 | COL4A5 | c.458G>C (p.Gly153Ala) c.134G>C (p.Gly45Ala) c.473G>C (p.Gly158Ala) | |
| X | g.108571830G= | CA2450680244 | COL4A5 | c.458G= (p.Gly153=) c.134G= (p.Gly45=) c.473G= (p.Gly158=) | |
| X | g.108571830G>T | CA413920513 | COL4A5 | c.458G>T (p.Gly153Val) c.134G>T (p.Gly45Val) c.473G>T (p.Gly158Val) | ClinVar dbSNP |
| X | g.108571831T>A | CA517991586 | COL4A5 | c.459T>A (p.Gly153=) c.135T>A (p.Gly45=) c.474T>A (p.Gly158=) | |
| X | g.108571831T>C | CA517991588 | COL4A5 | c.459T>C (p.Gly153=) c.135T>C (p.Gly45=) c.474T>C (p.Gly158=) | |
| X | g.108571831T>G | CA517991587 | COL4A5 | c.459T>G (p.Gly153=) c.135T>G (p.Gly45=) c.474T>G (p.Gly158=) | |
| X | g.108571832A= | CA2450680245 | COL4A5 | c.460A= (p.Met154=) c.136A= (p.Met46=) c.475A= (p.Met159=) | |
| X | g.108571832A>C | CA413920518 | COL4A5 | c.460A>C (p.Met154Leu) c.136A>C (p.Met46Leu) c.475A>C (p.Met159Leu) | |
| X | g.108571832A>G | CA413920521 | COL4A5 | c.460A>G (p.Met154Val) c.136A>G (p.Met46Val) c.475A>G (p.Met159Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108571832A>T | CA413920525 | COL4A5 | c.460A>T (p.Met154Leu) c.136A>T (p.Met46Leu) c.475A>T (p.Met159Leu) | |
| X | g.108571833T>A | CA413920528 | COL4A5 | c.461T>A (p.Met154Lys) c.137T>A (p.Met46Lys) c.476T>A (p.Met159Lys) | |
| X | g.108571833T>C | CA413920531 | COL4A5 | c.461T>C (p.Met154Thr) c.137T>C (p.Met46Thr) c.476T>C (p.Met159Thr) | gnomAD v4 |
| X | g.108571833T>G | CA413920533 | COL4A5 | c.461T>G (p.Met154Arg) c.137T>G (p.Met46Arg) c.476T>G (p.Met159Arg) | |
| X | g.108571834G>A | CA413920545 | COL4A5 | c.462G>A (p.Met154Ile) c.138G>A (p.Met46Ile) c.477G>A (p.Met159Ile) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108571834G>C | CA413920536 | COL4A5 | c.462G>C (p.Met154Ile) c.138G>C (p.Met46Ile) c.477G>C (p.Met159Ile) | |
| X | g.108571834G= | CA2450680247 | COL4A5 | c.462G= (p.Met154=) c.138G= (p.Met46=) c.477G= (p.Met159=) | |
| X | g.108571834G>T | CA413920541 | COL4A5 | c.462G>T (p.Met154Ile) c.138G>T (p.Met46Ile) c.477G>T (p.Met159Ile) | |
| X | g.108571834_108571839delinsGAAGGT | CA2450680246 | COL4A5 | c.462_465+2delinsGAAGGT c.138_141+2delinsGAAGGT c.477_480+2delinsGAAGGT | |
| X | g.108571835A>C | CA413920550 | COL4A5 | c.463A>C (p.Lys155Gln) c.139A>C (p.Lys47Gln) c.478A>C (p.Lys160Gln) | |
| X | g.108571835A>G | CA413920558 | COL4A5 | c.463A>G (p.Lys155Glu) c.139A>G (p.Lys47Glu) c.478A>G (p.Lys160Glu) | gnomAD v4 |