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.108666504G>A | CA413847620 | COL4A5 | c.3463G>A (p.Gly1155Ser) c.3139G>A (p.Gly1047Ser) c.1036G>A (p.Gly346Ser) c.3478G>A (p.Gly1160Ser) c.1798G>A (p.Gly600Ser) | |
| X | g.108666504G>C | CA413847627 | COL4A5 | c.3463G>C (p.Gly1155Arg) c.3139G>C (p.Gly1047Arg) c.1036G>C (p.Gly346Arg) c.3478G>C (p.Gly1160Arg) c.1798G>C (p.Gly600Arg) | |
| X | g.108666504G>T | CA413847624 | COL4A5 | c.3463G>T (p.Gly1155Cys) c.3139G>T (p.Gly1047Cys) c.1036G>T (p.Gly346Cys) c.3478G>T (p.Gly1160Cys) c.1798G>T (p.Gly600Cys) | gnomAD v4 |
| X | g.108666504_108666516del | CA2695235646 | COL4A5 | c.3463_3475del (p.Gly1155AsnfsTer?) c.3139_3151del (p.Gly1047AsnfsTer?) c.1036_1048del (p.Gly346AsnfsTer?) c.3478_3490del (p.Gly1160AsnfsTer?) c.1798_1810del (p.Gly600AsnfsTer?) | |
| X | g.108666505G>A | CA413847631 | COL4A5 | c.3464G>A (p.Gly1155Asp) c.3140G>A (p.Gly1047Asp) c.1037G>A (p.Gly346Asp) c.3479G>A (p.Gly1160Asp) c.1799G>A (p.Gly600Asp) | |
| X | g.108666505G>C | CA413847635 | COL4A5 | c.3464G>C (p.Gly1155Ala) c.3140G>C (p.Gly1047Ala) c.1037G>C (p.Gly346Ala) c.3479G>C (p.Gly1160Ala) c.1799G>C (p.Gly600Ala) | |
| X | g.108666505G>T | CA413847638 | COL4A5 | c.3464G>T (p.Gly1155Val) c.3140G>T (p.Gly1047Val) c.1037G>T (p.Gly346Val) c.3479G>T (p.Gly1160Val) c.1799G>T (p.Gly600Val) | gnomAD v4 |
| X | g.108666506T>A | CA517922318 | COL4A5 | c.3465T>A (p.Gly1155=) c.3141T>A (p.Gly1047=) c.1038T>A (p.Gly346=) c.3480T>A (p.Gly1160=) c.1800T>A (p.Gly600=) | gnomAD v4 |
| X | g.108666506T>C | CA517922319 | COL4A5 | c.3465T>C (p.Gly1155=) c.3141T>C (p.Gly1047=) c.1038T>C (p.Gly346=) c.3480T>C (p.Gly1160=) c.1800T>C (p.Gly600=) | |
| X | g.108666506T>G | CA517922320 | COL4A5 | c.3465T>G (p.Gly1155=) c.3141T>G (p.Gly1047=) c.1038T>G (p.Gly346=) c.3480T>G (p.Gly1160=) c.1800T>G (p.Gly600=) | |
| X | g.108666507C>A | CA413847642 | COL4A5 | c.3466C>A (p.His1156Asn) c.3142C>A (p.His1048Asn) c.1039C>A (p.His347Asn) c.3481C>A (p.His1161Asn) c.1801C>A (p.His601Asn) | |
| X | g.108666507C>G | CA413847645 | COL4A5 | c.3466C>G (p.His1156Asp) c.3142C>G (p.His1048Asp) c.1039C>G (p.His347Asp) c.3481C>G (p.His1161Asp) c.1801C>G (p.His601Asp) | |
| X | g.108666507C>T | CA413847648 | COL4A5 | c.3466C>T (p.His1156Tyr) c.3142C>T (p.His1048Tyr) c.1039C>T (p.His347Tyr) c.3481C>T (p.His1161Tyr) c.1801C>T (p.His601Tyr) | |
| X | g.108666508A>C | CA413847652 | COL4A5 | c.3467A>C (p.His1156Pro) c.3143A>C (p.His1048Pro) c.1040A>C (p.His347Pro) c.3482A>C (p.His1161Pro) c.1802A>C (p.His601Pro) | |
| X | g.108666508A>G | CA413847654 | COL4A5 | c.3467A>G (p.His1156Arg) c.3143A>G (p.His1048Arg) c.1040A>G (p.His347Arg) c.3482A>G (p.His1161Arg) c.1802A>G (p.His601Arg) | |
| X | g.108666508A>T | CA413847656 | COL4A5 | c.3467A>T (p.His1156Leu) c.3143A>T (p.His1048Leu) c.1040A>T (p.His347Leu) c.3482A>T (p.His1161Leu) c.1802A>T (p.His601Leu) | |
| X | g.108666509T>A | CA413847658 | COL4A5 | c.3468T>A (p.His1156Gln) c.3144T>A (p.His1048Gln) c.1041T>A (p.His347Gln) c.3483T>A (p.His1161Gln) c.1803T>A (p.His601Gln) | |
| X | g.108666509T>C | CA10489121 | COL4A5 | c.3468T>C (p.His1156=) c.3144T>C (p.His1048=) c.1041T>C (p.His347=) c.3483T>C (p.His1161=) c.1803T>C (p.His601=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108666509T>G | CA413847661 | COL4A5 | c.3468T>G (p.His1156Gln) c.3144T>G (p.His1048Gln) c.1041T>G (p.His347Gln) c.3483T>G (p.His1161Gln) c.1803T>G (p.His601Gln) | |
| X | g.108666509T= | CA2450712314 | COL4A5 | c.3468T= (p.His1156=) c.3144T= (p.His1048=) c.1041T= (p.His347=) c.3483T= (p.His1161=) c.1803T= (p.His601=) | |
| X | g.108666510C>A | CA413847668 | COL4A5 | c.3469C>A (p.Pro1157Thr) c.3145C>A (p.Pro1049Thr) c.1042C>A (p.Pro348Thr) c.3484C>A (p.Pro1162Thr) c.1804C>A (p.Pro602Thr) | gnomAD v4 |
| X | g.108666510C= | CA2450712315 | COL4A5 | c.3469C= (p.Pro1157=) c.3145C= (p.Pro1049=) c.1042C= (p.Pro348=) c.3484C= (p.Pro1162=) c.1804C= (p.Pro602=) | |
| X | g.108666510C>G | CA413847664 | COL4A5 | c.3469C>G (p.Pro1157Ala) c.3145C>G (p.Pro1049Ala) c.1042C>G (p.Pro348Ala) c.3484C>G (p.Pro1162Ala) c.1804C>G (p.Pro602Ala) | |
| X | g.108666510C>T | CA334045624 | COL4A5 | c.3469C>T (p.Pro1157Ser) c.3145C>T (p.Pro1049Ser) c.1042C>T (p.Pro348Ser) c.3484C>T (p.Pro1162Ser) c.1804C>T (p.Pro602Ser) | dbSNP gnomAD v2 |
| X | g.108666511C>A | CA413847670 | COL4A5 | c.3470C>A (p.Pro1157His) c.3146C>A (p.Pro1049His) c.1043C>A (p.Pro348His) c.3485C>A (p.Pro1162His) c.1805C>A (p.Pro602His) | gnomAD v4 COSMIC COSMIC |
| X | g.108666511C>G | CA413847672 | COL4A5 | c.3470C>G (p.Pro1157Arg) c.3146C>G (p.Pro1049Arg) c.1043C>G (p.Pro348Arg) c.3485C>G (p.Pro1162Arg) c.1805C>G (p.Pro602Arg) | |
| X | g.108666511C>T | CA413847674 | COL4A5 | c.3470C>T (p.Pro1157Leu) c.3146C>T (p.Pro1049Leu) c.1043C>T (p.Pro348Leu) c.3485C>T (p.Pro1162Leu) c.1805C>T (p.Pro602Leu) | |
| X | g.108666512T>A | CA517922321 | COL4A5 | c.3471T>A (p.Pro1157=) c.3147T>A (p.Pro1049=) c.1044T>A (p.Pro348=) c.3486T>A (p.Pro1162=) c.1806T>A (p.Pro602=) | |
| X | g.108666512T>C | CA517922322 | COL4A5 | c.3471T>C (p.Pro1157=) c.3147T>C (p.Pro1049=) c.1044T>C (p.Pro348=) c.3486T>C (p.Pro1162=) c.1806T>C (p.Pro602=) | |
| X | g.108666512T>G | CA517922323 | COL4A5 | c.3471T>G (p.Pro1157=) c.3147T>G (p.Pro1049=) c.1044T>G (p.Pro348=) c.3486T>G (p.Pro1162=) c.1806T>G (p.Pro602=) | |
| X | g.108666512_108666513delinsTG | CA2450712316 | COL4A5 | c.3471_3472delinsTG (p.Pro1157=) c.3147_3148delinsTG (p.Pro1049=) c.1044_1045delinsTG (p.Pro348=) c.3486_3487delinsTG (p.Pro1162=) c.1806_1807delinsTG (p.Pro602=) | |
| X | g.108666513G>A | CA413847677 | COL4A5 | c.3472G>A (p.Gly1158Arg) c.3148G>A (p.Gly1050Arg) c.1045G>A (p.Gly349Arg) c.3487G>A (p.Gly1163Arg) c.1807G>A (p.Gly603Arg) | |
| X | g.108666513G>C | CA413847679 | COL4A5 | c.3472G>C (p.Gly1158Arg) c.3148G>C (p.Gly1050Arg) c.1045G>C (p.Gly349Arg) c.3487G>C (p.Gly1163Arg) c.1807G>C (p.Gly603Arg) | |
| X | g.108666513G= | CA2450712317 | COL4A5 | c.3472G= (p.Gly1158=) c.3148G= (p.Gly1050=) c.1045G= (p.Gly349=) c.3487G= (p.Gly1163=) c.1807G= (p.Gly603=) | |
| X | g.108666513G>T | CA258869 | COL4A5 | c.3472G>T (p.Gly1158Trp) c.3148G>T (p.Gly1050Trp) c.1045G>T (p.Gly349Trp) c.3487G>T (p.Gly1163Trp) c.1807G>T (p.Gly603Trp) | dbSNP gnomAD v4 |
| X | g.108666515del | CA258873 | COL4A5 | c.3474del (p.Gln1159AsnfsTer?) c.3150del (p.Gln1051AsnfsTer?) c.1047del (p.Gln350AsnfsTer?) c.3489del (p.Gln1164AsnfsTer?) c.1809del (p.Gln604AsnfsTer?) | dbSNP |
| X | g.108666514G>A | CA413847683 | COL4A5 | c.3473G>A (p.Gly1158Glu) c.3149G>A (p.Gly1050Glu) c.1046G>A (p.Gly349Glu) c.3488G>A (p.Gly1163Glu) c.1808G>A (p.Gly603Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.108666514G>C | CA413847685 | COL4A5 | c.3473G>C (p.Gly1158Ala) c.3149G>C (p.Gly1050Ala) c.1046G>C (p.Gly349Ala) c.3488G>C (p.Gly1163Ala) c.1808G>C (p.Gly603Ala) | |
| X | g.108666514G= | CA2450712318 | COL4A5 | c.3473G= (p.Gly1158=) c.3149G= (p.Gly1050=) c.1046G= (p.Gly349=) c.3488G= (p.Gly1163=) c.1808G= (p.Gly603=) | |
| X | g.108666514G>T | CA413847687 | COL4A5 | c.3473G>T (p.Gly1158Val) c.3149G>T (p.Gly1050Val) c.1046G>T (p.Gly349Val) c.3488G>T (p.Gly1163Val) c.1808G>T (p.Gly603Val) | gnomAD v4 |
| X | g.108666514_108666515insT | CA517922324 | COL4A5 | c.3473_3474insT (p.Gln1159AlafsTer25) c.3149_3150insT (p.Gln1051AlafsTer25) c.1046_1047insT (p.Gln350AlafsTer25) c.3488_3489insT (p.Gln1164AlafsTer25) c.1808_1809insT (p.Gln604AlafsTer25) | |
| X | g.108666515G>A | CA517922325 | COL4A5 | c.3474G>A (p.Gly1158=) c.3150G>A (p.Gly1050=) c.1047G>A (p.Gly349=) c.3489G>A (p.Gly1163=) c.1809G>A (p.Gly603=) | gnomAD v4 COSMIC COSMIC |
| X | g.108666515G>C | CA517922326 | COL4A5 | c.3474G>C (p.Gly1158=) c.3150G>C (p.Gly1050=) c.1047G>C (p.Gly349=) c.3489G>C (p.Gly1163=) c.1809G>C (p.Gly603=) | |
| X | g.108666515G>T | CA517922327 | COL4A5 | c.3474G>T (p.Gly1158=) c.3150G>T (p.Gly1050=) c.1047G>T (p.Gly349=) c.3489G>T (p.Gly1163=) c.1809G>T (p.Gly603=) | |
| X | g.108666516C>A | CA413847694 | COL4A5 | c.3475C>A (p.Gln1159Lys) c.3151C>A (p.Gln1051Lys) c.1048C>A (p.Gln350Lys) c.3490C>A (p.Gln1164Lys) c.1810C>A (p.Gln604Lys) | |
| X | g.108666516C= | CA2450712319 | COL4A5 | c.3475C= (p.Gln1159=) c.3151C= (p.Gln1051=) c.1048C= (p.Gln350=) c.3490C= (p.Gln1164=) c.1810C= (p.Gln604=) | |
| X | g.108666516C>G | CA413847692 | COL4A5 | c.3475C>G (p.Gln1159Glu) c.3151C>G (p.Gln1051Glu) c.1048C>G (p.Gln350Glu) c.3490C>G (p.Gln1164Glu) c.1810C>G (p.Gln604Glu) | |
| X | g.108666516C>T | CA413847690 | COL4A5 | c.3475C>T (p.Gln1159Ter) c.3151C>T (p.Gln1051Ter) c.1048C>T (p.Gln350Ter) c.3490C>T (p.Gln1164Ter) c.1810C>T (p.Gln604Ter) | ClinVar dbSNP |
| X | g.108666517A= | CA2450712320 | COL4A5 | c.3476A= (p.Gln1159=) c.3152A= (p.Gln1051=) c.1049A= (p.Gln350=) c.3491A= (p.Gln1164=) c.1811A= (p.Gln604=) | |
| X | g.108666517A>C | CA413847696 | COL4A5 | c.3476A>C (p.Gln1159Pro) c.3152A>C (p.Gln1051Pro) c.1049A>C (p.Gln350Pro) c.3491A>C (p.Gln1164Pro) c.1811A>C (p.Gln604Pro) |