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.108668320_108668505del | CA2695235652 | COL4A5 | c.3606_3790+1del c.3282_3466+1del c.1179_1363+1del c.3621_3805+1del c.1941_2125+1del | |
| X | g.108668343C>A | CA413848426 | COL4A5 | c.3629C>A (p.Pro1210His) c.3305C>A (p.Pro1102His) c.1202C>A (p.Pro401His) c.3644C>A (p.Pro1215His) c.1964C>A (p.Pro655His) | |
| X | g.108668343C= | CA2450712922 | COL4A5 | c.3629C= (p.Pro1210=) c.3305C= (p.Pro1102=) c.1202C= (p.Pro401=) c.3644C= (p.Pro1215=) c.1964C= (p.Pro655=) | |
| X | g.108668343C>G | CA413848428 | COL4A5 | c.3629C>G (p.Pro1210Arg) c.3305C>G (p.Pro1102Arg) c.1202C>G (p.Pro401Arg) c.3644C>G (p.Pro1215Arg) c.1964C>G (p.Pro655Arg) | |
| X | g.108668343C>T | CA413848429 | COL4A5 | c.3629C>T (p.Pro1210Leu) c.3305C>T (p.Pro1102Leu) c.1202C>T (p.Pro401Leu) c.3644C>T (p.Pro1215Leu) c.1964C>T (p.Pro655Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108668344T>A | CA517922560 | COL4A5 | c.3630T>A (p.Pro1210=) c.3306T>A (p.Pro1102=) c.1203T>A (p.Pro401=) c.3645T>A (p.Pro1215=) c.1965T>A (p.Pro655=) | |
| X | g.108668344T>C | CA517922561 | COL4A5 | c.3630T>C (p.Pro1210=) c.3306T>C (p.Pro1102=) c.1203T>C (p.Pro401=) c.3645T>C (p.Pro1215=) c.1965T>C (p.Pro655=) | |
| X | g.108668344T>G | CA517922562 | COL4A5 | c.3630T>G (p.Pro1210=) c.3306T>G (p.Pro1102=) c.1203T>G (p.Pro401=) c.3645T>G (p.Pro1215=) c.1965T>G (p.Pro655=) | |
| X | g.108668345G>A | CA413848431 | COL4A5 | c.3631G>A (p.Gly1211Arg) c.3307G>A (p.Gly1103Arg) c.1204G>A (p.Gly402Arg) c.3646G>A (p.Gly1216Arg) c.1966G>A (p.Gly656Arg) | |
| X | g.108668345G>C | CA258912 | COL4A5 | c.3631G>C (p.Gly1211Arg) c.3307G>C (p.Gly1103Arg) c.1204G>C (p.Gly402Arg) c.3646G>C (p.Gly1216Arg) c.1966G>C (p.Gly656Arg) | dbSNP |
| X | g.108668345G= | CA2450712923 | COL4A5 | c.3631G= (p.Gly1211=) c.3307G= (p.Gly1103=) c.1204G= (p.Gly402=) c.3646G= (p.Gly1216=) c.1966G= (p.Gly656=) | |
| X | g.108668345G>T | CA413848430 | COL4A5 | c.3631G>T (p.Gly1211Trp) c.3307G>T (p.Gly1103Trp) c.1204G>T (p.Gly402Trp) c.3646G>T (p.Gly1216Trp) c.1966G>T (p.Gly656Trp) | |
| X | g.108668346G>A | CA258914 | COL4A5 | c.3632G>A (p.Gly1211Glu) c.3308G>A (p.Gly1103Glu) c.1205G>A (p.Gly402Glu) c.3647G>A (p.Gly1216Glu) c.1967G>A (p.Gly656Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.108668346G>C | CA413848433 | COL4A5 | c.3632G>C (p.Gly1211Ala) c.3308G>C (p.Gly1103Ala) c.1205G>C (p.Gly402Ala) c.3647G>C (p.Gly1216Ala) c.1967G>C (p.Gly656Ala) | |
| X | g.108668346G= | CA2450712924 | COL4A5 | c.3632G= (p.Gly1211=) c.3308G= (p.Gly1103=) c.1205G= (p.Gly402=) c.3647G= (p.Gly1216=) c.1967G= (p.Gly656=) | |
| X | g.108668346G>T | CA413848435 | COL4A5 | c.3632G>T (p.Gly1211Val) c.3308G>T (p.Gly1103Val) c.1205G>T (p.Gly402Val) c.3647G>T (p.Gly1216Val) c.1967G>T (p.Gly656Val) | |
| X | g.108668347G>A | CA517922565 | COL4A5 | c.3633G>A (p.Gly1211=) c.3309G>A (p.Gly1103=) c.1206G>A (p.Gly402=) c.3648G>A (p.Gly1216=) c.1968G>A (p.Gly656=) | |
| X | g.108668347G>C | CA517922564 | COL4A5 | c.3633G>C (p.Gly1211=) c.3309G>C (p.Gly1103=) c.1206G>C (p.Gly402=) c.3648G>C (p.Gly1216=) c.1968G>C (p.Gly656=) | |
| X | g.108668347G>T | CA517922563 | COL4A5 | c.3633G>T (p.Gly1211=) c.3309G>T (p.Gly1103=) c.1206G>T (p.Gly402=) c.3648G>T (p.Gly1216=) c.1968G>T (p.Gly656=) | |
| X | g.108668348A>C | CA413848437 | COL4A5 | c.3634A>C (p.Ile1212Leu) c.3310A>C (p.Ile1104Leu) c.1207A>C (p.Ile403Leu) c.3649A>C (p.Ile1217Leu) c.1969A>C (p.Ile657Leu) | |
| X | g.108668348A>G | CA413848439 | COL4A5 | c.3634A>G (p.Ile1212Val) c.3310A>G (p.Ile1104Val) c.1207A>G (p.Ile403Val) c.3649A>G (p.Ile1217Val) c.1969A>G (p.Ile657Val) | |
| X | g.108668348A>T | CA413848440 | COL4A5 | c.3634A>T (p.Ile1212Phe) c.3310A>T (p.Ile1104Phe) c.1207A>T (p.Ile403Phe) c.3649A>T (p.Ile1217Phe) c.1969A>T (p.Ile657Phe) | |
| X | g.108668348dup | CA2573055065 | COL4A5 | c.3634dup (p.Ile1212AsnfsTer?) c.3310dup (p.Ile1104AsnfsTer?) c.1207dup (p.Ile403AsnfsTer?) c.3649dup (p.Ile1217AsnfsTer?) c.1969dup (p.Ile657AsnfsTer?) | ClinVar dbSNP |
| X | g.108668349T>A | CA413848444 | COL4A5 | c.3635T>A (p.Ile1212Asn) c.3311T>A (p.Ile1104Asn) c.1208T>A (p.Ile403Asn) c.3650T>A (p.Ile1217Asn) c.1970T>A (p.Ile657Asn) | |
| X | g.108668349T>C | CA413848446 | COL4A5 | c.3635T>C (p.Ile1212Thr) c.3311T>C (p.Ile1104Thr) c.1208T>C (p.Ile403Thr) c.3650T>C (p.Ile1217Thr) c.1970T>C (p.Ile657Thr) | |
| X | g.108668349T>G | CA413848448 | COL4A5 | c.3635T>G (p.Ile1212Ser) c.3311T>G (p.Ile1104Ser) c.1208T>G (p.Ile403Ser) c.3650T>G (p.Ile1217Ser) c.1970T>G (p.Ile657Ser) | |
| X | g.108668350T>A | CA517922566 | COL4A5 | c.3636T>A (p.Ile1212=) c.3312T>A (p.Ile1104=) c.1209T>A (p.Ile403=) c.3651T>A (p.Ile1217=) c.1971T>A (p.Ile657=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108668350T>C | CA517922567 | COL4A5 | c.3636T>C (p.Ile1212=) c.3312T>C (p.Ile1104=) c.1209T>C (p.Ile403=) c.3651T>C (p.Ile1217=) c.1971T>C (p.Ile657=) | |
| X | g.108668350T>G | CA413848450 | COL4A5 | c.3636T>G (p.Ile1212Met) c.3312T>G (p.Ile1104Met) c.1209T>G (p.Ile403Met) c.3651T>G (p.Ile1217Met) c.1971T>G (p.Ile657Met) | |
| X | g.108668350T= | CA2450712925 | COL4A5 | c.3636T= (p.Ile1212=) c.3312T= (p.Ile1104=) c.1209T= (p.Ile403=) c.3651T= (p.Ile1217=) c.1971T= (p.Ile657=) | |
| X | g.108668351C>A | CA413848452 | COL4A5 | c.3637C>A (p.Pro1213Thr) c.3313C>A (p.Pro1105Thr) c.1210C>A (p.Pro404Thr) c.3652C>A (p.Pro1218Thr) c.1972C>A (p.Pro658Thr) | gnomAD v4 |
| X | g.108668351C= | CA2450712926 | COL4A5 | c.3637C= (p.Pro1213=) c.3313C= (p.Pro1105=) c.1210C= (p.Pro404=) c.3652C= (p.Pro1218=) c.1972C= (p.Pro658=) | |
| X | g.108668351C>G | CA413848454 | COL4A5 | c.3637C>G (p.Pro1213Ala) c.3313C>G (p.Pro1105Ala) c.1210C>G (p.Pro404Ala) c.3652C>G (p.Pro1218Ala) c.1972C>G (p.Pro658Ala) | |
| X | g.108668351C>T | CA334046734 | COL4A5 | c.3637C>T (p.Pro1213Ser) c.3313C>T (p.Pro1105Ser) c.1210C>T (p.Pro404Ser) c.3652C>T (p.Pro1218Ser) c.1972C>T (p.Pro658Ser) | dbSNP |
| X | g.108668352C>A | CA413848456 | COL4A5 | c.3638C>A (p.Pro1213Gln) c.3314C>A (p.Pro1105Gln) c.1211C>A (p.Pro404Gln) c.3653C>A (p.Pro1218Gln) c.1973C>A (p.Pro658Gln) | |
| X | g.108668352C= | CA2450712927 | COL4A5 | c.3638C= (p.Pro1213=) c.3314C= (p.Pro1105=) c.1211C= (p.Pro404=) c.3653C= (p.Pro1218=) c.1973C= (p.Pro658=) | |
| X | g.108668352C>G | CA413848460 | COL4A5 | c.3638C>G (p.Pro1213Arg) c.3314C>G (p.Pro1105Arg) c.1211C>G (p.Pro404Arg) c.3653C>G (p.Pro1218Arg) c.1973C>G (p.Pro658Arg) | |
| X | g.108668352C>T | CA334046735 | COL4A5 | c.3638C>T (p.Pro1213Leu) c.3314C>T (p.Pro1105Leu) c.1211C>T (p.Pro404Leu) c.3653C>T (p.Pro1218Leu) c.1973C>T (p.Pro658Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108668353A>C | CA517922568 | COL4A5 | c.3639A>C (p.Pro1213=) c.3315A>C (p.Pro1105=) c.1212A>C (p.Pro404=) c.3654A>C (p.Pro1218=) c.1974A>C (p.Pro658=) | gnomAD v4 |
| X | g.108668353A>G | CA517922569 | COL4A5 | c.3639A>G (p.Pro1213=) c.3315A>G (p.Pro1105=) c.1212A>G (p.Pro404=) c.3654A>G (p.Pro1218=) c.1974A>G (p.Pro658=) | gnomAD v4 |
| X | g.108668353A>T | CA517922570 | COL4A5 | c.3639A>T (p.Pro1213=) c.3315A>T (p.Pro1105=) c.1212A>T (p.Pro404=) c.3654A>T (p.Pro1218=) c.1974A>T (p.Pro658=) | |
| X | g.108668354G>A | CA413848463 | COL4A5 | c.3640G>A (p.Gly1214Arg) c.3316G>A (p.Gly1106Arg) c.1213G>A (p.Gly405Arg) c.3655G>A (p.Gly1219Arg) c.1975G>A (p.Gly659Arg) | ClinVar dbSNP |
| X | g.108668354G>C | CA413848465 | COL4A5 | c.3640G>C (p.Gly1214Arg) c.3316G>C (p.Gly1106Arg) c.1213G>C (p.Gly405Arg) c.3655G>C (p.Gly1219Arg) c.1975G>C (p.Gly659Arg) | |
| X | g.108668354G>T | CA413848464 | COL4A5 | c.3640G>T (p.Gly1214Ter) c.3316G>T (p.Gly1106Ter) c.1213G>T (p.Gly405Ter) c.3655G>T (p.Gly1219Ter) c.1975G>T (p.Gly659Ter) | |
| X | g.108668355G>A | CA258916 | COL4A5 | c.3641G>A (p.Gly1214Glu) c.3317G>A (p.Gly1106Glu) c.1214G>A (p.Gly405Glu) c.3656G>A (p.Gly1219Glu) c.1976G>A (p.Gly659Glu) | dbSNP |
| X | g.108668355G>C | CA413848470 | COL4A5 | c.3641G>C (p.Gly1214Ala) c.3317G>C (p.Gly1106Ala) c.1214G>C (p.Gly405Ala) c.3656G>C (p.Gly1219Ala) c.1976G>C (p.Gly659Ala) | |
| X | g.108668355G= | CA2450712928 | COL4A5 | c.3641G= (p.Gly1214=) c.3317G= (p.Gly1106=) c.1214G= (p.Gly405=) c.3656G= (p.Gly1219=) c.1976G= (p.Gly659=) | |
| X | g.108668355G>T | CA413848468 | COL4A5 | c.3641G>T (p.Gly1214Val) c.3317G>T (p.Gly1106Val) c.1214G>T (p.Gly405Val) c.3656G>T (p.Gly1219Val) c.1976G>T (p.Gly659Val) | |
| X | g.108668356A>C | CA517922571 | COL4A5 | c.3642A>C (p.Gly1214=) c.3318A>C (p.Gly1106=) c.1215A>C (p.Gly405=) c.3657A>C (p.Gly1219=) c.1977A>C (p.Gly659=) | |
| X | g.108668356A>G | CA517922572 | COL4A5 | c.3642A>G (p.Gly1214=) c.3318A>G (p.Gly1106=) c.1215A>G (p.Gly405=) c.3657A>G (p.Gly1219=) c.1977A>G (p.Gly659=) |