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.108622707_108622759del | CA2566557330 | COL4A5 | c.2799_2851del (p.Pro934SerfsTer?) n.2255_2307del c.32_84del c.2475_2527del (p.Pro826SerfsTer?) c.372_424del (p.Pro125SerfsTer?) c.2814_2866del (p.Pro939SerfsTer?) c.1134_1186del (p.Pro379SerfsTer?) | |
| X | g.108622748G>A | CA258774 | COL4A5 | c.2840G>A (p.Gly947Asp) n.2296G>A c.73G>A c.2516G>A (p.Gly839Asp) c.413G>A (p.Gly138Asp) c.2855G>A (p.Gly952Asp) c.1175G>A (p.Gly392Asp) | dbSNP |
| X | g.108622748G>C | CA413852781 | COL4A5 | c.2840G>C (p.Gly947Ala) n.2296G>C c.73G>C c.2516G>C (p.Gly839Ala) c.413G>C (p.Gly138Ala) c.2855G>C (p.Gly952Ala) c.1175G>C (p.Gly392Ala) | |
| X | g.108622748G= | CA2450696873 | COL4A5 | c.2840G= (p.Gly947=) n.2296G= c.73G= c.2516G= (p.Gly839=) c.413G= (p.Gly138=) c.2855G= (p.Gly952=) c.1175G= (p.Gly392=) | |
| X | g.108622748G>T | CA413852780 | COL4A5 | c.2840G>T (p.Gly947Val) n.2296G>T c.73G>T c.2516G>T (p.Gly839Val) c.413G>T (p.Gly138Val) c.2855G>T (p.Gly952Val) c.1175G>T (p.Gly392Val) | |
| X | g.108622749C>A | CA517924767 | COL4A5 | c.2841C>A (p.Gly947=) n.2297C>A c.74C>A c.2517C>A (p.Gly839=) c.414C>A (p.Gly138=) c.2856C>A (p.Gly952=) c.1176C>A (p.Gly392=) | |
| X | g.108622749C>G | CA517924768 | COL4A5 | c.2841C>G (p.Gly947=) n.2297C>G c.74C>G c.2517C>G (p.Gly839=) c.414C>G (p.Gly138=) c.2856C>G (p.Gly952=) c.1176C>G (p.Gly392=) | |
| X | g.108622749C>T | CA517924769 | COL4A5 | c.2841C>T (p.Gly947=) n.2297C>T c.74C>T c.2517C>T (p.Gly839=) c.414C>T (p.Gly138=) c.2856C>T (p.Gly952=) c.1176C>T (p.Gly392=) | |
| X | g.108622750del | CA2695235224 | COL4A5 | c.2842del (p.Leu948PhefsTer?) n.2298del c.75del c.2518del (p.Leu840PhefsTer?) c.415del (p.Leu139PhefsTer?) c.2857del (p.Leu953PhefsTer?) c.1177del (p.Leu393PhefsTer?) | |
| X | g.108622750C>A | CA413852782 | COL4A5 | c.2842C>A (p.Leu948Ile) n.2298C>A c.75C>A c.2518C>A (p.Leu840Ile) c.415C>A (p.Leu139Ile) c.2857C>A (p.Leu953Ile) c.1177C>A (p.Leu393Ile) | |
| X | g.108622750C>G | CA413852783 | COL4A5 | c.2842C>G (p.Leu948Val) n.2298C>G c.75C>G c.2518C>G (p.Leu840Val) c.415C>G (p.Leu139Val) c.2857C>G (p.Leu953Val) c.1177C>G (p.Leu393Val) | |
| X | g.108622750C>T | CA413852784 | COL4A5 | c.2842C>T (p.Leu948Phe) n.2298C>T c.75C>T c.2518C>T (p.Leu840Phe) c.415C>T (p.Leu139Phe) c.2857C>T (p.Leu953Phe) c.1177C>T (p.Leu393Phe) | COSMIC |
| X | g.108622751T>A | CA413852785 | COL4A5 | c.2843T>A (p.Leu948His) n.2299T>A c.76T>A c.2519T>A (p.Leu840His) c.416T>A (p.Leu139His) c.2858T>A (p.Leu953His) c.1178T>A (p.Leu393His) | |
| X | g.108622751T>C | CA413852786 | COL4A5 | c.2843T>C (p.Leu948Pro) n.2299T>C c.76T>C c.2519T>C (p.Leu840Pro) c.416T>C (p.Leu139Pro) c.2858T>C (p.Leu953Pro) c.1178T>C (p.Leu393Pro) | |
| X | g.108622751T>G | CA413852787 | COL4A5 | c.2843T>G (p.Leu948Arg) n.2299T>G c.76T>G c.2519T>G (p.Leu840Arg) c.416T>G (p.Leu139Arg) c.2858T>G (p.Leu953Arg) c.1178T>G (p.Leu393Arg) | |
| X | g.108622752T>A | CA517924770 | COL4A5 | c.2844T>A (p.Leu948=) n.2300T>A c.77T>A c.2520T>A (p.Leu840=) c.417T>A (p.Leu139=) c.2859T>A (p.Leu953=) c.1179T>A (p.Leu393=) | |
| X | g.108622752T>C | CA334050713 | COL4A5 | c.2844T>C (p.Leu948=) n.2300T>C c.77T>C c.2520T>C (p.Leu840=) c.417T>C (p.Leu139=) c.2859T>C (p.Leu953=) c.1179T>C (p.Leu393=) | dbSNP |
| X | g.108622752T>G | CA517924771 | COL4A5 | c.2844T>G (p.Leu948=) n.2300T>G c.77T>G c.2520T>G (p.Leu840=) c.417T>G (p.Leu139=) c.2859T>G (p.Leu953=) c.1179T>G (p.Leu393=) | |
| X | g.108622752T= | CA2450696875 | COL4A5 | c.2844T= (p.Leu948=) n.2300T= c.77T= c.2520T= (p.Leu840=) c.417T= (p.Leu139=) c.2859T= (p.Leu953=) c.1179T= (p.Leu393=) | |
| X | g.108622752_108622753delinsTC | CA2450696874 | COL4A5 | c.2844_2845delinsTC (p.Leu948=) n.2300_2301delinsTC c.77_78delinsTC c.2520_2521delinsTC (p.Leu840=) c.417_418delinsTC (p.Leu139=) c.2859_2860delinsTC (p.Leu953=) c.1179_1180delinsTC (p.Leu393=) | |
| X | g.108622753C>A | CA413852788 | COL4A5 | c.2845C>A (p.Pro949Thr) n.2301C>A c.78C>A c.2521C>A (p.Pro841Thr) c.418C>A (p.Pro140Thr) c.2860C>A (p.Pro954Thr) c.1180C>A (p.Pro394Thr) | |
| X | g.108622753C>G | CA413852789 | COL4A5 | c.2845C>G (p.Pro949Ala) n.2301C>G c.78C>G c.2521C>G (p.Pro841Ala) c.418C>G (p.Pro140Ala) c.2860C>G (p.Pro954Ala) c.1180C>G (p.Pro394Ala) | |
| X | g.108622753C>T | CA413852790 | COL4A5 | c.2845C>T (p.Pro949Ser) n.2301C>T c.78C>T c.2521C>T (p.Pro841Ser) c.418C>T (p.Pro140Ser) c.2860C>T (p.Pro954Ser) c.1180C>T (p.Pro394Ser) | |
| X | g.108622754del | CA258776 | COL4A5 | c.2846del (p.Pro949GlnfsTer?) n.2302del c.79del c.2522del (p.Pro841GlnfsTer?) c.419del (p.Pro140GlnfsTer?) c.2861del (p.Pro954GlnfsTer?) c.1181del (p.Pro394GlnfsTer?) | ClinVar dbSNP |
| X | g.108622754C>A | CA413852793 | COL4A5 | c.2846C>A (p.Pro949Gln) n.2302C>A c.79C>A c.2522C>A (p.Pro841Gln) c.419C>A (p.Pro140Gln) c.2861C>A (p.Pro954Gln) c.1181C>A (p.Pro394Gln) | |
| X | g.108622754C>G | CA413852791 | COL4A5 | c.2846C>G (p.Pro949Arg) n.2302C>G c.79C>G c.2522C>G (p.Pro841Arg) c.419C>G (p.Pro140Arg) c.2861C>G (p.Pro954Arg) c.1181C>G (p.Pro394Arg) | |
| X | g.108622754C>T | CA413852792 | COL4A5 | c.2846C>T (p.Pro949Leu) n.2302C>T c.79C>T c.2522C>T (p.Pro841Leu) c.419C>T (p.Pro140Leu) c.2861C>T (p.Pro954Leu) c.1181C>T (p.Pro394Leu) | |
| X | g.108622755A>C | CA517924773 | COL4A5 | c.2847A>C (p.Pro949=) n.2303A>C c.80A>C c.2523A>C (p.Pro841=) c.420A>C (p.Pro140=) c.2862A>C (p.Pro954=) c.1182A>C (p.Pro394=) | |
| X | g.108622755A>G | CA517924772 | COL4A5 | c.2847A>G (p.Pro949=) n.2303A>G c.80A>G c.2523A>G (p.Pro841=) c.420A>G (p.Pro140=) c.2862A>G (p.Pro954=) c.1182A>G (p.Pro394=) | |
| X | g.108622755A>T | CA517924774 | COL4A5 | c.2847A>T (p.Pro949=) n.2303A>T c.80A>T c.2523A>T (p.Pro841=) c.420A>T (p.Pro140=) c.2862A>T (p.Pro954=) c.1182A>T (p.Pro394=) | |
| X | g.108622756G>A | CA413852794 | COL4A5 | c.2848G>A (p.Gly950Ser) n.2304G>A c.81G>A c.2524G>A (p.Gly842Ser) c.421G>A (p.Gly141Ser) c.2863G>A (p.Gly955Ser) c.1183G>A (p.Gly395Ser) | |
| X | g.108622756G>C | CA413852795 | COL4A5 | c.2848G>C (p.Gly950Arg) n.2304G>C c.81G>C c.2524G>C (p.Gly842Arg) c.421G>C (p.Gly141Arg) c.2863G>C (p.Gly955Arg) c.1183G>C (p.Gly395Arg) | |
| X | g.108622756G>T | CA413852796 | COL4A5 | c.2848G>T (p.Gly950Cys) n.2304G>T c.81G>T c.2524G>T (p.Gly842Cys) c.421G>T (p.Gly141Cys) c.2863G>T (p.Gly955Cys) c.1183G>T (p.Gly395Cys) | |
| X | g.108622757G>A | CA413852797 | COL4A5 | c.2849G>A (p.Gly950Asp) n.2305G>A c.82G>A c.2525G>A (p.Gly842Asp) c.422G>A (p.Gly141Asp) c.2864G>A (p.Gly955Asp) c.1184G>A (p.Gly395Asp) | |
| X | g.108622757G>C | CA413852798 | COL4A5 | c.2849G>C (p.Gly950Ala) n.2305G>C c.82G>C c.2525G>C (p.Gly842Ala) c.422G>C (p.Gly141Ala) c.2864G>C (p.Gly955Ala) c.1184G>C (p.Gly395Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.108622757G= | CA2450696876 | COL4A5 | c.2849G= (p.Gly950=) n.2305G= c.82G= c.2525G= (p.Gly842=) c.422G= (p.Gly141=) c.2864G= (p.Gly955=) c.1184G= (p.Gly395=) | |
| X | g.108622757G>T | CA413852799 | COL4A5 | c.2849G>T (p.Gly950Val) n.2305G>T c.82G>T c.2525G>T (p.Gly842Val) c.422G>T (p.Gly141Val) c.2864G>T (p.Gly955Val) c.1184G>T (p.Gly395Val) | |
| X | g.108622758C>A | CA517924775 | COL4A5 | c.2850C>A (p.Gly950=) n.2306C>A c.83C>A c.2526C>A (p.Gly842=) c.423C>A (p.Gly141=) c.2865C>A (p.Gly955=) c.1185C>A (p.Gly395=) | |
| X | g.108622758C= | CA2450696877 | COL4A5 | c.2850C= (p.Gly950=) n.2306C= c.83C= c.2526C= (p.Gly842=) c.423C= (p.Gly141=) c.2865C= (p.Gly955=) c.1185C= (p.Gly395=) | |
| X | g.108622758C>G | CA517924776 | COL4A5 | c.2850C>G (p.Gly950=) n.2306C>G c.83C>G c.2526C>G (p.Gly842=) c.423C>G (p.Gly141=) c.2865C>G (p.Gly955=) c.1185C>G (p.Gly395=) | |
| X | g.108622758C>T | CA517924777 | COL4A5 | c.2850C>T (p.Gly950=) n.2306C>T c.83C>T c.2526C>T (p.Gly842=) c.423C>T (p.Gly141=) c.2865C>T (p.Gly955=) c.1185C>T (p.Gly395=) | ClinVar dbSNP gnomAD v4 |
| X | g.108622759C>A | CA413852800 | COL4A5 | c.2851C>A (p.Pro951Thr) n.2307C>A c.84C>A c.2527C>A (p.Pro843Thr) c.424C>A (p.Pro142Thr) c.2866C>A (p.Pro956Thr) c.1186C>A (p.Pro396Thr) | |
| X | g.108622759C>G | CA413852801 | COL4A5 | c.2851C>G (p.Pro951Ala) n.2307C>G c.84C>G c.2527C>G (p.Pro843Ala) c.424C>G (p.Pro142Ala) c.2866C>G (p.Pro956Ala) c.1186C>G (p.Pro396Ala) | |
| X | g.108622759C>T | CA413852802 | COL4A5 | c.2851C>T (p.Pro951Ser) n.2307C>T c.84C>T c.2527C>T (p.Pro843Ser) c.424C>T (p.Pro142Ser) c.2866C>T (p.Pro956Ser) c.1186C>T (p.Pro396Ser) | |
| X | g.108622760C>A | CA413852804 | COL4A5 | c.2852C>A (p.Pro951His) n.2308C>A c.85C>A c.2528C>A (p.Pro843His) c.425C>A (p.Pro142His) c.2867C>A (p.Pro956His) c.1187C>A (p.Pro396His) | |
| X | g.108622760C>G | CA413852805 | COL4A5 | c.2852C>G (p.Pro951Arg) n.2308C>G c.85C>G c.2528C>G (p.Pro843Arg) c.425C>G (p.Pro142Arg) c.2867C>G (p.Pro956Arg) c.1187C>G (p.Pro396Arg) | gnomAD v4 |
| X | g.108622760C>T | CA413852803 | COL4A5 | c.2852C>T (p.Pro951Leu) n.2308C>T c.85C>T c.2528C>T (p.Pro843Leu) c.425C>T (p.Pro142Leu) c.2867C>T (p.Pro956Leu) c.1187C>T (p.Pro396Leu) | |
| X | g.108622761T>A | CA517924778 | COL4A5 | c.2853T>A (p.Pro951=) n.2309T>A c.86T>A c.2529T>A (p.Pro843=) c.426T>A (p.Pro142=) c.2868T>A (p.Pro956=) c.1188T>A (p.Pro396=) | |
| X | g.108622761T>C | CA334050734 | COL4A5 | c.2853T>C (p.Pro951=) n.2309T>C c.86T>C c.2529T>C (p.Pro843=) c.426T>C (p.Pro142=) c.2868T>C (p.Pro956=) c.1188T>C (p.Pro396=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108622761T>G | CA517924779 | COL4A5 | c.2853T>G (p.Pro951=) n.2309T>G c.86T>G c.2529T>G (p.Pro843=) c.426T>G (p.Pro142=) c.2868T>G (p.Pro956=) c.1188T>G (p.Pro396=) |