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.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.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) | |
| X | g.108620395T>A | CA517924233 | COL4A5 | c.2646T>A (p.Leu882=) n.2102T>A c.2322T>A (p.Leu774=) c.219T>A (p.Leu73=) c.2661T>A (p.Leu887=) c.981T>A (p.Leu327=) | |
| X | g.108620395T>C | CA517924234 | COL4A5 | c.2646T>C (p.Leu882=) n.2102T>C c.2322T>C (p.Leu774=) c.219T>C (p.Leu73=) c.2661T>C (p.Leu887=) c.981T>C (p.Leu327=) | |
| X | g.108620395T>G | CA517924235 | COL4A5 | c.2646T>G (p.Leu882=) n.2102T>G c.2322T>G (p.Leu774=) c.219T>G (p.Leu73=) c.2661T>G (p.Leu887=) c.981T>G (p.Leu327=) | |
| X | g.108620396C>A | CA413851628 | COL4A5 | c.2647C>A (p.Pro883Thr) n.2103C>A c.2323C>A (p.Pro775Thr) c.220C>A (p.Pro74Thr) c.2662C>A (p.Pro888Thr) c.982C>A (p.Pro328Thr) | |
| X | g.108620396C>G | CA413851630 | COL4A5 | c.2647C>G (p.Pro883Ala) n.2103C>G c.2323C>G (p.Pro775Ala) c.220C>G (p.Pro74Ala) c.2662C>G (p.Pro888Ala) c.982C>G (p.Pro328Ala) | |
| X | g.108620396C>T | CA413851632 | COL4A5 | c.2647C>T (p.Pro883Ser) n.2103C>T c.2323C>T (p.Pro775Ser) c.220C>T (p.Pro74Ser) c.2662C>T (p.Pro888Ser) c.982C>T (p.Pro328Ser) | |
| X | g.108620397C>A | CA413851634 | COL4A5 | c.2648C>A (p.Pro883Gln) n.2104C>A c.2324C>A (p.Pro775Gln) c.221C>A (p.Pro74Gln) c.2663C>A (p.Pro888Gln) c.983C>A (p.Pro328Gln) | |
| X | g.108620397C>G | CA413851635 | COL4A5 | c.2648C>G (p.Pro883Arg) n.2104C>G c.2324C>G (p.Pro775Arg) c.221C>G (p.Pro74Arg) c.2663C>G (p.Pro888Arg) c.983C>G (p.Pro328Arg) | |
| X | g.108620397C>T | CA413851636 | COL4A5 | c.2648C>T (p.Pro883Leu) n.2104C>T c.2324C>T (p.Pro775Leu) c.221C>T (p.Pro74Leu) c.2663C>T (p.Pro888Leu) c.983C>T (p.Pro328Leu) | |
| X | g.108620398A>C | CA517924236 | COL4A5 | c.2649A>C (p.Pro883=) n.2105A>C c.2325A>C (p.Pro775=) c.222A>C (p.Pro74=) c.2664A>C (p.Pro888=) c.984A>C (p.Pro328=) | |
| X | g.108620398A>G | CA517924237 | COL4A5 | c.2649A>G (p.Pro883=) n.2105A>G c.2325A>G (p.Pro775=) c.222A>G (p.Pro74=) c.2664A>G (p.Pro888=) c.984A>G (p.Pro328=) | |
| X | g.108620398A>T | CA517924238 | COL4A5 | c.2649A>T (p.Pro883=) n.2105A>T c.2325A>T (p.Pro775=) c.222A>T (p.Pro74=) c.2664A>T (p.Pro888=) c.984A>T (p.Pro328=) | |
| X | g.108620399G>A | CA413851642 | COL4A5 | c.2650G>A (p.Gly884Arg) n.2106G>A c.2326G>A (p.Gly776Arg) c.223G>A (p.Gly75Arg) c.2665G>A (p.Gly889Arg) c.985G>A (p.Gly329Arg) | |
| X | g.108620399G>C | CA413851640 | COL4A5 | c.2650G>C (p.Gly884Arg) n.2106G>C c.2326G>C (p.Gly776Arg) c.223G>C (p.Gly75Arg) c.2665G>C (p.Gly889Arg) c.985G>C (p.Gly329Arg) | |
| X | g.108620399G>T | CA413851638 | COL4A5 | c.2650G>T (p.Gly884Ter) n.2106G>T c.2326G>T (p.Gly776Ter) c.223G>T (p.Gly75Ter) c.2665G>T (p.Gly889Ter) c.985G>T (p.Gly329Ter) | |
| X | g.108620400G>A | CA413851644 | COL4A5 | c.2651G>A (p.Gly884Glu) n.2107G>A c.2327G>A (p.Gly776Glu) c.224G>A (p.Gly75Glu) c.2666G>A (p.Gly889Glu) c.986G>A (p.Gly329Glu) | |
| X | g.108620400G>C | CA413851648 | COL4A5 | c.2651G>C (p.Gly884Ala) n.2107G>C c.2327G>C (p.Gly776Ala) c.224G>C (p.Gly75Ala) c.2666G>C (p.Gly889Ala) c.986G>C (p.Gly329Ala) | dbSNP |
| X | g.108620400G>T | CA413851646 | COL4A5 | c.2651G>T (p.Gly884Val) n.2107G>T c.2327G>T (p.Gly776Val) c.224G>T (p.Gly75Val) c.2666G>T (p.Gly889Val) c.986G>T (p.Gly329Val) | |
| X | g.108620401A>C | CA517924241 | COL4A5 | c.2652A>C (p.Gly884=) n.2108A>C c.2328A>C (p.Gly776=) c.225A>C (p.Gly75=) c.2667A>C (p.Gly889=) c.987A>C (p.Gly329=) | |
| X | g.108620401A>G | CA517924242 | COL4A5 | c.2652A>G (p.Gly884=) n.2108A>G c.2328A>G (p.Gly776=) c.225A>G (p.Gly75=) c.2667A>G (p.Gly889=) c.987A>G (p.Gly329=) | |
| X | g.108620401A>T | CA517924243 | COL4A5 | c.2652A>T (p.Gly884=) n.2108A>T c.2328A>T (p.Gly776=) c.225A>T (p.Gly75=) c.2667A>T (p.Gly889=) c.987A>T (p.Gly329=) | |
| X | g.108620404dup | CA2573159088 | COL4A5 | c.2655dup (p.Ala886SerfsTer12) n.2111dup c.2331dup (p.Ala778SerfsTer12) c.228dup (p.Ala77SerfsTer12) c.2670dup (p.Ala891SerfsTer12) c.990dup (p.Ala331SerfsTer12) | ClinVar dbSNP |
| X | g.108620402A= | CA2450695989 | COL4A5 | c.2653A= (p.Lys885=) n.2109A= c.2329A= (p.Lys777=) c.226A= (p.Lys76=) c.2668A= (p.Lys890=) c.988A= (p.Lys330=) | |
| X | g.108620402A>C | CA413851650 | COL4A5 | c.2653A>C (p.Lys885Gln) n.2109A>C c.2329A>C (p.Lys777Gln) c.226A>C (p.Lys76Gln) c.2668A>C (p.Lys890Gln) c.988A>C (p.Lys330Gln) | |
| X | g.108620402A>G | CA413851651 | COL4A5 | c.2653A>G (p.Lys885Glu) n.2109A>G c.2329A>G (p.Lys777Glu) c.226A>G (p.Lys76Glu) c.2668A>G (p.Lys890Glu) c.988A>G (p.Lys330Glu) | |
| X | g.108620402A>T | CA413851653 | COL4A5 | c.2653A>T (p.Lys885Ter) n.2109A>T c.2329A>T (p.Lys777Ter) c.226A>T (p.Lys76Ter) c.2668A>T (p.Lys890Ter) c.988A>T (p.Lys330Ter) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108620403A>C | CA413851655 | COL4A5 | c.2654A>C (p.Lys885Thr) n.2110A>C c.2330A>C (p.Lys777Thr) c.227A>C (p.Lys76Thr) c.2669A>C (p.Lys890Thr) c.989A>C (p.Lys330Thr) | |
| X | g.108620403A>G | CA413851657 | COL4A5 | c.2654A>G (p.Lys885Arg) n.2110A>G c.2330A>G (p.Lys777Arg) c.227A>G (p.Lys76Arg) c.2669A>G (p.Lys890Arg) c.989A>G (p.Lys330Arg) | |
| X | g.108620403A>T | CA413851659 | COL4A5 | c.2654A>T (p.Lys885Ile) n.2110A>T c.2330A>T (p.Lys777Ile) c.227A>T (p.Lys76Ile) c.2669A>T (p.Lys890Ile) c.989A>T (p.Lys330Ile) | |
| X | g.108620404A>C | CA413851661 | COL4A5 | c.2655A>C (p.Lys885Asn) n.2111A>C c.2331A>C (p.Lys777Asn) c.228A>C (p.Lys76Asn) c.2670A>C (p.Lys890Asn) c.990A>C (p.Lys330Asn) | |
| X | g.108620404A>G | CA517924246 | COL4A5 | c.2655A>G (p.Lys885=) n.2111A>G c.2331A>G (p.Lys777=) c.228A>G (p.Lys76=) c.2670A>G (p.Lys890=) c.990A>G (p.Lys330=) | |
| X | g.108620404A>T | CA413851664 | COL4A5 | c.2655A>T (p.Lys885Asn) n.2111A>T c.2331A>T (p.Lys777Asn) c.228A>T (p.Lys76Asn) c.2670A>T (p.Lys890Asn) c.990A>T (p.Lys330Asn) | |
| X | g.108620405G>A | CA413851666 | COL4A5 | c.2656G>A (p.Ala886Thr) n.2112G>A c.2332G>A (p.Ala778Thr) c.229G>A (p.Ala77Thr) c.2671G>A (p.Ala891Thr) c.991G>A (p.Ala331Thr) | |
| X | g.108620405G>C | CA413851668 | COL4A5 | c.2656G>C (p.Ala886Pro) n.2112G>C c.2332G>C (p.Ala778Pro) c.229G>C (p.Ala77Pro) c.2671G>C (p.Ala891Pro) c.991G>C (p.Ala331Pro) | |
| X | g.108620405G>T | CA413851670 | COL4A5 | c.2656G>T (p.Ala886Ser) n.2112G>T c.2332G>T (p.Ala778Ser) c.229G>T (p.Ala77Ser) c.2671G>T (p.Ala891Ser) c.991G>T (p.Ala331Ser) | |
| X | g.108620406C>A | CA413851675 | COL4A5 | c.2657C>A (p.Ala886Glu) n.2113C>A c.2333C>A (p.Ala778Glu) c.230C>A (p.Ala77Glu) c.2672C>A (p.Ala891Glu) c.992C>A (p.Ala331Glu) |