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.108620334_108620406delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC | CA2450695956 | COL4A5 | c.2585_2657delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg862=) n.2041_2113delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC c.2261_2333delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg754=) c.158_230delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg53=) c.2600_2672delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg867=) c.920_992delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg307=) | |
| X | g.108620338_108620409del | CA891843942 | COL4A5 | c.2589_2660del (p.Ser864_Gly887del) n.2045_2116del c.2265_2336del (p.Ser756_Gly779del) c.162_233del (p.Ser55_Gly78del) c.2604_2675del (p.Ser869_Gly892del) c.924_995del (p.Ser309_Gly332del) | |
| X | g.108620385_108620420del | CA2695235219 | COL4A5 | c.2636_2671del (p.Ser879_Gly890del) n.2092_2127del c.2312_2347del (p.Ser771_Gly782del) c.209_244del (p.Ser70_Gly81del) c.2651_2686del (p.Ser884_Gly895del) c.971_1006del (p.Ser324_Gly335del) | |
| X | g.108620382G>A | CA413851575 | COL4A5 | c.2633G>A (p.Gly878Glu) n.2089G>A c.2309G>A (p.Gly770Glu) c.206G>A (p.Gly69Glu) c.2648G>A (p.Gly883Glu) c.968G>A (p.Gly323Glu) | ClinVar dbSNP COSMIC |
| X | g.108620382G>C | CA413851577 | COL4A5 | c.2633G>C (p.Gly878Ala) n.2089G>C c.2309G>C (p.Gly770Ala) c.206G>C (p.Gly69Ala) c.2648G>C (p.Gly883Ala) c.968G>C (p.Gly323Ala) | |
| X | g.108620382G= | CA2450695983 | COL4A5 | c.2633G= (p.Gly878=) n.2089G= c.2309G= (p.Gly770=) c.206G= (p.Gly69=) c.2648G= (p.Gly883=) c.968G= (p.Gly323=) | |
| X | g.108620382G>T | CA258728 | COL4A5 | c.2633G>T (p.Gly878Val) n.2089G>T c.2309G>T (p.Gly770Val) c.206G>T (p.Gly69Val) c.2648G>T (p.Gly883Val) c.968G>T (p.Gly323Val) | dbSNP |
| X | g.108620383A>C | CA517924205 | COL4A5 | c.2634A>C (p.Gly878=) n.2090A>C c.2310A>C (p.Gly770=) c.207A>C (p.Gly69=) c.2649A>C (p.Gly883=) c.969A>C (p.Gly323=) | |
| X | g.108620383A>G | CA517924206 | COL4A5 | c.2634A>G (p.Gly878=) n.2090A>G c.2310A>G (p.Gly770=) c.207A>G (p.Gly69=) c.2649A>G (p.Gly883=) c.969A>G (p.Gly323=) | |
| X | g.108620383A>T | CA517924208 | COL4A5 | c.2634A>T (p.Gly878=) n.2090A>T c.2310A>T (p.Gly770=) c.207A>T (p.Gly69=) c.2649A>T (p.Gly883=) c.969A>T (p.Gly323=) | |
| X | g.108620384T>A | CA413851583 | COL4A5 | c.2635T>A (p.Ser879Thr) n.2091T>A c.2311T>A (p.Ser771Thr) c.208T>A (p.Ser70Thr) c.2650T>A (p.Ser884Thr) c.970T>A (p.Ser324Thr) | |
| X | g.108620384T>C | CA413851584 | COL4A5 | c.2635T>C (p.Ser879Pro) n.2091T>C c.2311T>C (p.Ser771Pro) c.208T>C (p.Ser70Pro) c.2650T>C (p.Ser884Pro) c.970T>C (p.Ser324Pro) | |
| X | g.108620384T>G | CA413851581 | COL4A5 | c.2635T>G (p.Ser879Ala) n.2091T>G c.2311T>G (p.Ser771Ala) c.208T>G (p.Ser70Ala) c.2650T>G (p.Ser884Ala) c.970T>G (p.Ser324Ala) | |
| X | g.108620385C>A | CA413851589 | COL4A5 | c.2636C>A (p.Ser879Ter) n.2092C>A c.2312C>A (p.Ser771Ter) c.209C>A (p.Ser70Ter) c.2651C>A (p.Ser884Ter) c.971C>A (p.Ser324Ter) | |
| X | g.108620385C>G | CA413851586 | COL4A5 | c.2636C>G (p.Ser879Ter) n.2092C>G c.2312C>G (p.Ser771Ter) c.209C>G (p.Ser70Ter) c.2651C>G (p.Ser884Ter) c.971C>G (p.Ser324Ter) | |
| X | g.108620385C>T | CA413851588 | COL4A5 | c.2636C>T (p.Ser879Leu) n.2092C>T c.2312C>T (p.Ser771Leu) c.209C>T (p.Ser70Leu) c.2651C>T (p.Ser884Leu) c.971C>T (p.Ser324Leu) | gnomAD v4 COSMIC COSMIC |
| X | g.108620386_108620387del | CA2580100192 | COL4A5 | c.2637_2638del (p.Pro880ArgfsTer17) n.2093_2094del c.2313_2314del (p.Pro772ArgfsTer17) c.210_211del (p.Pro71ArgfsTer17) c.2652_2653del (p.Pro885ArgfsTer17) c.972_973del (p.Pro325ArgfsTer17) | ClinVar |
| X | g.108620386A>C | CA517924215 | COL4A5 | c.2637A>C (p.Ser879=) n.2093A>C c.2313A>C (p.Ser771=) c.210A>C (p.Ser70=) c.2652A>C (p.Ser884=) c.972A>C (p.Ser324=) | |
| X | g.108620386A>G | CA517924217 | COL4A5 | c.2637A>G (p.Ser879=) n.2093A>G c.2313A>G (p.Ser771=) c.210A>G (p.Ser70=) c.2652A>G (p.Ser884=) c.972A>G (p.Ser324=) | gnomAD v4 |
| X | g.108620386A>T | CA517924216 | COL4A5 | c.2637A>T (p.Ser879=) n.2093A>T c.2313A>T (p.Ser771=) c.210A>T (p.Ser70=) c.2652A>T (p.Ser884=) c.972A>T (p.Ser324=) | |
| X | g.108620387C>A | CA413851591 | COL4A5 | c.2638C>A (p.Pro880Thr) n.2094C>A c.2314C>A (p.Pro772Thr) c.211C>A (p.Pro71Thr) c.2653C>A (p.Pro885Thr) c.973C>A (p.Pro325Thr) | dbSNP |
| X | g.108620387C= | CA2450695984 | COL4A5 | c.2638C= (p.Pro880=) n.2094C= c.2314C= (p.Pro772=) c.211C= (p.Pro71=) c.2653C= (p.Pro885=) c.973C= (p.Pro325=) | |
| X | g.108620387C>G | CA413851592 | COL4A5 | c.2638C>G (p.Pro880Ala) n.2094C>G c.2314C>G (p.Pro772Ala) c.211C>G (p.Pro71Ala) c.2653C>G (p.Pro885Ala) c.973C>G (p.Pro325Ala) | gnomAD v4 |
| X | g.108620387C>T | CA413851594 | COL4A5 | c.2638C>T (p.Pro880Ser) n.2094C>T c.2314C>T (p.Pro772Ser) c.211C>T (p.Pro71Ser) c.2653C>T (p.Pro885Ser) c.973C>T (p.Pro325Ser) | |
| X | g.108620388C>A | CA413851597 | COL4A5 | c.2639C>A (p.Pro880Gln) n.2095C>A c.2315C>A (p.Pro772Gln) c.212C>A (p.Pro71Gln) c.2654C>A (p.Pro885Gln) c.974C>A (p.Pro325Gln) | |
| X | g.108620388C>G | CA413851598 | COL4A5 | c.2639C>G (p.Pro880Arg) n.2095C>G c.2315C>G (p.Pro772Arg) c.212C>G (p.Pro71Arg) c.2654C>G (p.Pro885Arg) c.974C>G (p.Pro325Arg) | gnomAD v4 |
| X | g.108620388C>T | CA413851600 | COL4A5 | c.2639C>T (p.Pro880Leu) n.2095C>T c.2315C>T (p.Pro772Leu) c.212C>T (p.Pro71Leu) c.2654C>T (p.Pro885Leu) c.974C>T (p.Pro325Leu) | |
| X | g.108620389A= | CA2450695985 | COL4A5 | c.2640A= (p.Pro880=) n.2096A= c.2316A= (p.Pro772=) c.213A= (p.Pro71=) c.2655A= (p.Pro885=) c.975A= (p.Pro325=) | |
| X | g.108620389A>C | CA517924220 | COL4A5 | c.2640A>C (p.Pro880=) n.2096A>C c.2316A>C (p.Pro772=) c.213A>C (p.Pro71=) c.2655A>C (p.Pro885=) c.975A>C (p.Pro325=) | ClinVar dbSNP |
| X | g.108620389A>G | CA517924219 | COL4A5 | c.2640A>G (p.Pro880=) n.2096A>G c.2316A>G (p.Pro772=) c.213A>G (p.Pro71=) c.2655A>G (p.Pro885=) c.975A>G (p.Pro325=) | |
| X | g.108620389A>T | CA10488954 | COL4A5 | c.2640A>T (p.Pro880=) n.2096A>T c.2316A>T (p.Pro772=) c.213A>T (p.Pro71=) c.2655A>T (p.Pro885=) c.975A>T (p.Pro325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108620389_108620390delinsAG | CA2450695986 | COL4A5 | c.2640_2641delinsAG (p.Pro880=) n.2096_2097delinsAG c.2316_2317delinsAG (p.Pro772=) c.213_214delinsAG (p.Pro71=) c.2655_2656delinsAG (p.Pro885=) c.975_976delinsAG (p.Pro325=) | |
| X | g.108620390G>A | CA413851603 | COL4A5 | c.2641G>A (p.Gly881Arg) n.2097G>A c.2317G>A (p.Gly773Arg) c.214G>A (p.Gly72Arg) c.2656G>A (p.Gly886Arg) c.976G>A (p.Gly326Arg) | ClinVar |
| X | g.108620390G>C | CA413851605 | COL4A5 | c.2641G>C (p.Gly881Arg) n.2097G>C c.2317G>C (p.Gly773Arg) c.214G>C (p.Gly72Arg) c.2656G>C (p.Gly886Arg) c.976G>C (p.Gly326Arg) | |
| X | g.108620390G>T | CA413851607 | COL4A5 | c.2641G>T (p.Gly881Trp) n.2097G>T c.2317G>T (p.Gly773Trp) c.214G>T (p.Gly72Trp) c.2656G>T (p.Gly886Trp) c.976G>T (p.Gly326Trp) | |
| X | g.108620392del | CA258719 | COL4A5 | c.2643del (p.Leu882PhefsTer19) n.2099del c.2319del (p.Leu774PhefsTer19) c.216del (p.Leu73PhefsTer19) c.2658del (p.Leu887PhefsTer19) c.978del (p.Leu327PhefsTer19) | dbSNP |
| X | g.108620391G>A | CA413851614 | COL4A5 | c.2642G>A (p.Gly881Glu) n.2098G>A c.2318G>A (p.Gly773Glu) c.215G>A (p.Gly72Glu) c.2657G>A (p.Gly886Glu) c.977G>A (p.Gly326Glu) | |
| X | g.108620391G>C | CA413851612 | COL4A5 | c.2642G>C (p.Gly881Ala) n.2098G>C c.2318G>C (p.Gly773Ala) c.215G>C (p.Gly72Ala) c.2657G>C (p.Gly886Ala) c.977G>C (p.Gly326Ala) | |
| X | g.108620391G= | CA2450695987 | COL4A5 | c.2642G= (p.Gly881=) n.2098G= c.2318G= (p.Gly773=) c.215G= (p.Gly72=) c.2657G= (p.Gly886=) c.977G= (p.Gly326=) | |
| X | g.108620391G>T | CA413851610 | COL4A5 | c.2642G>T (p.Gly881Val) n.2098G>T c.2318G>T (p.Gly773Val) c.215G>T (p.Gly72Val) c.2657G>T (p.Gly886Val) c.977G>T (p.Gly326Val) | ClinVar dbSNP |
| X | g.108620392G>A | CA517924229 | COL4A5 | c.2643G>A (p.Gly881=) n.2099G>A c.2319G>A (p.Gly773=) c.216G>A (p.Gly72=) c.2658G>A (p.Gly886=) c.978G>A (p.Gly326=) | ClinVar dbSNP gnomAD v4 |
| X | g.108620392G>C | CA517924227 | COL4A5 | c.2643G>C (p.Gly881=) n.2099G>C c.2319G>C (p.Gly773=) c.216G>C (p.Gly72=) c.2658G>C (p.Gly886=) c.978G>C (p.Gly326=) | |
| X | g.108620392G>T | CA517924228 | COL4A5 | c.2643G>T (p.Gly881=) n.2099G>T c.2319G>T (p.Gly773=) c.216G>T (p.Gly72=) c.2658G>T (p.Gly886=) c.978G>T (p.Gly326=) | |
| X | g.108620393C>A | CA413851616 | COL4A5 | c.2644C>A (p.Leu882Ile) n.2100C>A c.2320C>A (p.Leu774Ile) c.217C>A (p.Leu73Ile) c.2659C>A (p.Leu887Ile) c.979C>A (p.Leu327Ile) | gnomAD v4 |
| X | g.108620393C= | CA2450695988 | COL4A5 | c.2644C= (p.Leu882=) n.2100C= c.2320C= (p.Leu774=) c.217C= (p.Leu73=) c.2659C= (p.Leu887=) c.979C= (p.Leu327=) | |
| X | g.108620393C>G | CA413851618 | COL4A5 | c.2644C>G (p.Leu882Val) n.2100C>G c.2320C>G (p.Leu774Val) c.217C>G (p.Leu73Val) c.2659C>G (p.Leu887Val) c.979C>G (p.Leu327Val) | |
| X | g.108620393C>T | CA413851620 | COL4A5 | c.2644C>T (p.Leu882Phe) n.2100C>T c.2320C>T (p.Leu774Phe) c.217C>T (p.Leu73Phe) c.2659C>T (p.Leu887Phe) c.979C>T (p.Leu327Phe) | dbSNP gnomAD v4 |
| X | g.108620394T>A | CA413851622 | COL4A5 | c.2645T>A (p.Leu882His) n.2101T>A c.2321T>A (p.Leu774His) c.218T>A (p.Leu73His) c.2660T>A (p.Leu887His) c.980T>A (p.Leu327His) | |
| X | g.108620394T>C | CA413851624 | COL4A5 | c.2645T>C (p.Leu882Pro) n.2101T>C c.2321T>C (p.Leu774Pro) c.218T>C (p.Leu73Pro) c.2660T>C (p.Leu887Pro) c.980T>C (p.Leu327Pro) | |
| X | g.108620394T>G | CA413851626 | COL4A5 | c.2645T>G (p.Leu882Arg) n.2101T>G c.2321T>G (p.Leu774Arg) c.218T>G (p.Leu73Arg) c.2660T>G (p.Leu887Arg) c.980T>G (p.Leu327Arg) |