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.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) | |
| X | g.108666517A>G | CA413847698 | COL4A5 | c.3476A>G (p.Gln1159Arg) c.3152A>G (p.Gln1051Arg) c.1049A>G (p.Gln350Arg) c.3491A>G (p.Gln1164Arg) c.1811A>G (p.Gln604Arg) | dbSNP gnomAD v4 |
| X | g.108666517A>T | CA413847699 | COL4A5 | c.3476A>T (p.Gln1159Leu) c.3152A>T (p.Gln1051Leu) c.1049A>T (p.Gln350Leu) c.3491A>T (p.Gln1164Leu) c.1811A>T (p.Gln604Leu) | |
| X | g.108666517_108666518del | CA517922328 | COL4A5 | c.3476_3477del (p.Gln1159ProfsTer24) c.3152_3153del (p.Gln1051ProfsTer24) c.1049_1050del (p.Gln350ProfsTer24) c.3491_3492del (p.Gln1164ProfsTer24) c.1811_1812del (p.Gln604ProfsTer24) | |
| X | g.108666518A>C | CA413847701 | COL4A5 | c.3477A>C (p.Gln1159His) c.3153A>C (p.Gln1051His) c.1050A>C (p.Gln350His) c.3492A>C (p.Gln1164His) c.1812A>C (p.Gln604His) | |
| X | g.108666518A>G | CA517922329 | COL4A5 | c.3477A>G (p.Gln1159=) c.3153A>G (p.Gln1051=) c.1050A>G (p.Gln350=) c.3492A>G (p.Gln1164=) c.1812A>G (p.Gln604=) | |
| X | g.108666518A>T | CA413847703 | COL4A5 | c.3477A>T (p.Gln1159His) c.3153A>T (p.Gln1051His) c.1050A>T (p.Gln350His) c.3492A>T (p.Gln1164His) c.1812A>T (p.Gln604His) | |
| X | g.108666519C>A | CA413847705 | COL4A5 | c.3478C>A (p.Pro1160Thr) c.3154C>A (p.Pro1052Thr) c.1051C>A (p.Pro351Thr) c.3493C>A (p.Pro1165Thr) c.1813C>A (p.Pro605Thr) | |
| X | g.108666519C= | CA2450712321 | COL4A5 | c.3478C= (p.Pro1160=) c.3154C= (p.Pro1052=) c.1051C= (p.Pro351=) c.3493C= (p.Pro1165=) c.1813C= (p.Pro605=) | |
| X | g.108666519C>G | CA413847707 | COL4A5 | c.3478C>G (p.Pro1160Ala) c.3154C>G (p.Pro1052Ala) c.1051C>G (p.Pro351Ala) c.3493C>G (p.Pro1165Ala) c.1813C>G (p.Pro605Ala) | |
| X | g.108666519C>T | CA413847709 | COL4A5 | c.3478C>T (p.Pro1160Ser) c.3154C>T (p.Pro1052Ser) c.1051C>T (p.Pro351Ser) c.3493C>T (p.Pro1165Ser) c.1813C>T (p.Pro605Ser) | dbSNP |
| X | g.108666519_108666520insG | CA517922330 | COL4A5 | c.3478_3479insG (p.Pro1160ArgfsTer24) c.3154_3155insG (p.Pro1052ArgfsTer24) c.1051_1052insG (p.Pro351ArgfsTer24) c.3493_3494insG (p.Pro1165ArgfsTer24) c.1813_1814insG (p.Pro605ArgfsTer24) | |
| X | g.108666520C>A | CA413847712 | COL4A5 | c.3479C>A (p.Pro1160Gln) c.3155C>A (p.Pro1052Gln) c.1052C>A (p.Pro351Gln) c.3494C>A (p.Pro1165Gln) c.1814C>A (p.Pro605Gln) | |
| X | g.108666520C= | CA2450712322 | COL4A5 | c.3479C= (p.Pro1160=) c.3155C= (p.Pro1052=) c.1052C= (p.Pro351=) c.3494C= (p.Pro1165=) c.1814C= (p.Pro605=) | |
| X | g.108666520C>G | CA413847714 | COL4A5 | c.3479C>G (p.Pro1160Arg) c.3155C>G (p.Pro1052Arg) c.1052C>G (p.Pro351Arg) c.3494C>G (p.Pro1165Arg) c.1814C>G (p.Pro605Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108666520C>T | CA413847715 | COL4A5 | c.3479C>T (p.Pro1160Leu) c.3155C>T (p.Pro1052Leu) c.1052C>T (p.Pro351Leu) c.3494C>T (p.Pro1165Leu) c.1814C>T (p.Pro605Leu) | |
| X | g.108666521A>C | CA517922331 | COL4A5 | c.3480A>C (p.Pro1160=) c.3156A>C (p.Pro1052=) c.1053A>C (p.Pro351=) c.3495A>C (p.Pro1165=) c.1815A>C (p.Pro605=) | |
| X | g.108666521A>G | CA517922332 | COL4A5 | c.3480A>G (p.Pro1160=) c.3156A>G (p.Pro1052=) c.1053A>G (p.Pro351=) c.3495A>G (p.Pro1165=) c.1815A>G (p.Pro605=) | |
| X | g.108666521A>T | CA517922333 | COL4A5 | c.3480A>T (p.Pro1160=) c.3156A>T (p.Pro1052=) c.1053A>T (p.Pro351=) c.3495A>T (p.Pro1165=) c.1815A>T (p.Pro605=) | |
| X | g.108666522G>A | CA258874 | COL4A5 | c.3481G>A (p.Gly1161Arg) c.3157G>A (p.Gly1053Arg) c.1054G>A (p.Gly352Arg) c.3496G>A (p.Gly1166Arg) c.1816G>A (p.Gly606Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.108666522G>C | CA413847717 | COL4A5 | c.3481G>C (p.Gly1161Arg) c.3157G>C (p.Gly1053Arg) c.1054G>C (p.Gly352Arg) c.3496G>C (p.Gly1166Arg) c.1816G>C (p.Gly606Arg) | ClinVar dbSNP |
| X | g.108666522G= | CA2450712323 | COL4A5 | c.3481G= (p.Gly1161=) c.3157G= (p.Gly1053=) c.1054G= (p.Gly352=) c.3496G= (p.Gly1166=) c.1816G= (p.Gly606=) | |
| X | g.108666522G>T | CA413847716 | COL4A5 | c.3481G>T (p.Gly1161Trp) c.3157G>T (p.Gly1053Trp) c.1054G>T (p.Gly352Trp) c.3496G>T (p.Gly1166Trp) c.1816G>T (p.Gly606Trp) | gnomAD v4 |
| X | g.108666523G>A | CA413847718 | COL4A5 | c.3482G>A (p.Gly1161Glu) c.3158G>A (p.Gly1053Glu) c.1055G>A (p.Gly352Glu) c.3497G>A (p.Gly1166Glu) c.1817G>A (p.Gly606Glu) | ClinVar dbSNP |
| X | g.108666523G>C | CA413847719 | COL4A5 | c.3482G>C (p.Gly1161Ala) c.3158G>C (p.Gly1053Ala) c.1055G>C (p.Gly352Ala) c.3497G>C (p.Gly1166Ala) c.1817G>C (p.Gly606Ala) | |
| X | g.108666523G= | CA2450712324 | COL4A5 | c.3482G= (p.Gly1161=) c.3158G= (p.Gly1053=) c.1055G= (p.Gly352=) c.3497G= (p.Gly1166=) c.1817G= (p.Gly606=) | |
| X | g.108666523G>T | CA413847720 | COL4A5 | c.3482G>T (p.Gly1161Val) c.3158G>T (p.Gly1053Val) c.1055G>T (p.Gly352Val) c.3497G>T (p.Gly1166Val) c.1817G>T (p.Gly606Val) | gnomAD v4 |
| X | g.108666524G>A | CA517922334 | COL4A5 | c.3483G>A (p.Gly1161=) c.3159G>A (p.Gly1053=) c.1056G>A (p.Gly352=) c.3498G>A (p.Gly1166=) c.1818G>A (p.Gly606=) | gnomAD v4 |
| X | g.108666524G>C | CA517922335 | COL4A5 | c.3483G>C (p.Gly1161=) c.3159G>C (p.Gly1053=) c.1056G>C (p.Gly352=) c.3498G>C (p.Gly1166=) c.1818G>C (p.Gly606=) | |
| X | g.108666524G>T | CA517922336 | COL4A5 | c.3483G>T (p.Gly1161=) c.3159G>T (p.Gly1053=) c.1056G>T (p.Gly352=) c.3498G>T (p.Gly1166=) c.1818G>T (p.Gly606=) | |
| X | g.108666524_108666525insTT | CA517922337 | COL4A5 | c.3483_3484insTT (p.Pro1162PhefsTer?) c.3159_3160insTT (p.Pro1054PhefsTer?) c.1056_1057insTT (p.Pro353PhefsTer?) c.3498_3499insTT (p.Pro1167PhefsTer?) c.1818_1819insTT (p.Pro607PhefsTer?) | |
| X | g.108666525C>A | CA413847721 | COL4A5 | c.3484C>A (p.Pro1162Thr) c.3160C>A (p.Pro1054Thr) c.1057C>A (p.Pro353Thr) c.3499C>A (p.Pro1167Thr) c.1819C>A (p.Pro607Thr) | gnomAD v4 |
| X | g.108666525C>G | CA413847722 | COL4A5 | c.3484C>G (p.Pro1162Ala) c.3160C>G (p.Pro1054Ala) c.1057C>G (p.Pro353Ala) c.3499C>G (p.Pro1167Ala) c.1819C>G (p.Pro607Ala) | |
| X | g.108666525C>T | CA413847723 | COL4A5 | c.3484C>T (p.Pro1162Ser) c.3160C>T (p.Pro1054Ser) c.1057C>T (p.Pro353Ser) c.3499C>T (p.Pro1167Ser) c.1819C>T (p.Pro607Ser) | |
| X | g.108666525_108666526insTG | CA517922338 | COL4A5 | c.3484_3485insTG (p.Pro1162LeufsTer?) c.3160_3161insTG (p.Pro1054LeufsTer?) c.1057_1058insTG (p.Pro353LeufsTer?) c.3499_3500insTG (p.Pro1167LeufsTer?) c.1819_1820insTG (p.Pro607LeufsTer?) | |
| X | g.108666526C>A | CA413847724 | COL4A5 | c.3485C>A (p.Pro1162His) c.3161C>A (p.Pro1054His) c.1058C>A (p.Pro353His) c.3500C>A (p.Pro1167His) c.1820C>A (p.Pro607His) | gnomAD v4 |
| X | g.108666526C>G | CA413847725 | COL4A5 | c.3485C>G (p.Pro1162Arg) c.3161C>G (p.Pro1054Arg) c.1058C>G (p.Pro353Arg) c.3500C>G (p.Pro1167Arg) c.1820C>G (p.Pro607Arg) | |
| X | g.108666526C>T | CA413847726 | COL4A5 | c.3485C>T (p.Pro1162Leu) c.3161C>T (p.Pro1054Leu) c.1058C>T (p.Pro353Leu) c.3500C>T (p.Pro1167Leu) c.1820C>T (p.Pro607Leu) | |
| X | g.108666527T>A | CA517922339 | COL4A5 | c.3486T>A (p.Pro1162=) c.3162T>A (p.Pro1054=) c.1059T>A (p.Pro353=) c.3501T>A (p.Pro1167=) c.1821T>A (p.Pro607=) | |
| X | g.108666527T>C | CA517922340 | COL4A5 | c.3486T>C (p.Pro1162=) c.3162T>C (p.Pro1054=) c.1059T>C (p.Pro353=) c.3501T>C (p.Pro1167=) c.1821T>C (p.Pro607=) | gnomAD v4 |
| X | g.108666527T>G | CA517922341 | COL4A5 | c.3486T>G (p.Pro1162=) c.3162T>G (p.Pro1054=) c.1059T>G (p.Pro353=) c.3501T>G (p.Pro1167=) c.1821T>G (p.Pro607=) | |
| X | g.108666527_108666529delinsTCC | CA2450712325 | COL4A5 | c.3486_3488delinsTCC (p.Pro1162=) c.3162_3164delinsTCC (p.Pro1054=) c.1059_1061delinsTCC (p.Pro353=) c.3501_3503delinsTCC (p.Pro1167=) c.1821_1823delinsTCC (p.Pro607=) | |
| X | g.108666528C>A | CA413847727 | COL4A5 | c.3487C>A (p.Pro1163Thr) c.3163C>A (p.Pro1055Thr) c.1060C>A (p.Pro354Thr) c.3502C>A (p.Pro1168Thr) c.1822C>A (p.Pro608Thr) | |
| X | g.108666528C>G | CA413847728 | COL4A5 | c.3487C>G (p.Pro1163Ala) c.3163C>G (p.Pro1055Ala) c.1060C>G (p.Pro354Ala) c.3502C>G (p.Pro1168Ala) c.1822C>G (p.Pro608Ala) | |
| X | g.108666528C>T | CA413847729 | COL4A5 | c.3487C>T (p.Pro1163Ser) c.3163C>T (p.Pro1055Ser) c.1060C>T (p.Pro354Ser) c.3502C>T (p.Pro1168Ser) c.1822C>T (p.Pro608Ser) | |
| X | g.108666528_108666529del | CA2508957337 | COL4A5 | c.3487_3488del (p.Pro1163ArgfsTer20) c.3163_3164del (p.Pro1055ArgfsTer20) c.1060_1061del (p.Pro354ArgfsTer20) c.3502_3503del (p.Pro1168ArgfsTer20) c.1822_1823del (p.Pro608ArgfsTer20) | |
| X | g.108666528_108666529delinsG | CA10654931 | COL4A5 | c.3487_3488delinsG (p.Pro1163GlufsTer?) c.3163_3164delinsG (p.Pro1055GlufsTer?) c.1060_1061delinsG (p.Pro354GlufsTer?) c.3502_3503delinsG (p.Pro1168GlufsTer?) c.1822_1823delinsG (p.Pro608GlufsTer?) | ClinVar dbSNP |
| X | g.108666529del | CA2580100161 | COL4A5 | c.3488del (p.Pro1163GlnfsTer?) c.3164del (p.Pro1055GlnfsTer?) c.1061del (p.Pro354GlnfsTer?) c.3503del (p.Pro1168GlnfsTer?) c.1823del (p.Pro608GlnfsTer?) | ClinVar |
| X | g.108666528_108666529insAA | CA517922342 | COL4A5 | c.3487_3488insAA (p.Pro1163GlnfsTer?) c.3163_3164insAA (p.Pro1055GlnfsTer?) c.1060_1061insAA (p.Pro354GlnfsTer?) c.3502_3503insAA (p.Pro1168GlnfsTer?) c.1822_1823insAA (p.Pro608GlnfsTer?) |