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 |
|---|---|---|---|---|---|
| 19 | g.40396044T>A | CA405896567 | PRX | c.2308A>T (p.Lys770Ter) c.1891A>T (p.Lys631Ter) c.2593A>T (p.Lys865Ter) c.2183A>T c.2169A>T c.2270A>T c.2195A>T c.*2513A>T (n.*2513A>T) c.2206A>T (p.Lys736Ter) | |
| 19 | g.40396044T>C | CA405896568 | PRX | c.2308A>G (p.Lys770Glu) c.1891A>G (p.Lys631Glu) c.2593A>G (p.Lys865Glu) c.2183A>G c.2169A>G c.2270A>G c.2195A>G c.*2513A>G (n.*2513A>G) c.2206A>G (p.Lys736Glu) | gnomAD v4 |
| 19 | g.40396044T>G | CA405896569 | PRX | c.2308A>C (p.Lys770Gln) c.1891A>C (p.Lys631Gln) c.2593A>C (p.Lys865Gln) c.2183A>C c.2169A>C c.2270A>C c.2195A>C c.*2513A>C (n.*2513A>C) c.2206A>C (p.Lys736Gln) | |
| 19 | g.40396045C>A | CA507679459 | PRX | c.2307G>T (p.Pro769=) c.1890G>T (p.Pro630=) c.2592G>T (p.Pro864=) c.2182G>T c.2168G>T c.2269G>T c.2194G>T c.*2512G>T (n.*2512G>T) c.2205G>T (p.Pro735=) | gnomAD v4 |
| 19 | g.40396045C= | CA2335961429 | PRX | c.2307G= (p.Pro769=) c.1890G= (p.Pro630=) c.2592G= (p.Pro864=) c.2182G= c.2168G= c.2269G= c.2194G= c.*2512G= (n.*2512G=) c.2205G= (p.Pro735=) | |
| 19 | g.40396045C>G | CA507679460 | PRX | c.2307G>C (p.Pro769=) c.1890G>C (p.Pro630=) c.2592G>C (p.Pro864=) c.2182G>C c.2168G>C c.2269G>C c.2194G>C c.*2512G>C (n.*2512G>C) c.2205G>C (p.Pro735=) | |
| 19 | g.40396045C>T | CA9444075 | PRX | c.2307G>A (p.Pro769=) c.1890G>A (p.Pro630=) c.2592G>A (p.Pro864=) c.2182G>A c.2168G>A c.2269G>A c.2194G>A c.*2512G>A (n.*2512G>A) c.2205G>A (p.Pro735=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.40396046G>A | CA9444076 | PRX | c.2306C>T (p.Pro769Leu) c.1889C>T (p.Pro630Leu) c.2591C>T (p.Pro864Leu) c.2181C>T c.2167C>T c.2268C>T c.2193C>T c.*2511C>T (n.*2511C>T) c.2204C>T (p.Pro735Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396046G>C | CA405896570 | PRX | c.2306C>G (p.Pro769Arg) c.1889C>G (p.Pro630Arg) c.2591C>G (p.Pro864Arg) c.2181C>G c.2167C>G c.2268C>G c.2193C>G c.*2511C>G (n.*2511C>G) c.2204C>G (p.Pro735Arg) | |
| 19 | g.40396046G= | CA2335961430 | PRX | c.2306C= (p.Pro769=) c.1889C= (p.Pro630=) c.2591C= (p.Pro864=) c.2181C= c.2167C= c.2268C= c.2193C= c.*2511C= (n.*2511C=) c.2204C= (p.Pro735=) | |
| 19 | g.40396046G>T | CA405896571 | PRX | c.2306C>A (p.Pro769Gln) c.1889C>A (p.Pro630Gln) c.2591C>A (p.Pro864Gln) c.2181C>A c.2167C>A c.2268C>A c.2193C>A c.*2511C>A (n.*2511C>A) c.2204C>A (p.Pro735Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396047G>A | CA405896572 | PRX | c.2305C>T (p.Pro769Ser) c.1888C>T (p.Pro630Ser) c.2590C>T (p.Pro864Ser) c.2180C>T c.2166C>T c.2267C>T c.2192C>T c.*2510C>T (n.*2510C>T) c.2203C>T (p.Pro735Ser) | ClinVar |
| 19 | g.40396047G>C | CA405896573 | PRX | c.2305C>G (p.Pro769Ala) c.1888C>G (p.Pro630Ala) c.2590C>G (p.Pro864Ala) c.2180C>G c.2166C>G c.2267C>G c.2192C>G c.*2510C>G (n.*2510C>G) c.2203C>G (p.Pro735Ala) | |
| 19 | g.40396047G>T | CA405896574 | PRX | c.2305C>A (p.Pro769Thr) c.1888C>A (p.Pro630Thr) c.2590C>A (p.Pro864Thr) c.2180C>A c.2166C>A c.2267C>A c.2192C>A c.*2510C>A (n.*2510C>A) c.2203C>A (p.Pro735Thr) | |
| 19 | g.40396048A>C | CA507679466 | PRX | c.2304T>G (p.Leu768=) c.1887T>G (p.Leu629=) c.2589T>G (p.Leu863=) c.2179T>G c.2165T>G c.2266T>G c.2191T>G c.*2509T>G (n.*2509T>G) c.2202T>G (p.Leu734=) | |
| 19 | g.40396048A>G | CA507679467 | PRX | c.2304T>C (p.Leu768=) c.1887T>C (p.Leu629=) c.2589T>C (p.Leu863=) c.2179T>C c.2165T>C c.2266T>C c.2191T>C c.*2509T>C (n.*2509T>C) c.2202T>C (p.Leu734=) | |
| 19 | g.40396048A>T | CA507679469 | PRX | c.2304T>A (p.Leu768=) c.1887T>A (p.Leu629=) c.2589T>A (p.Leu863=) c.2179T>A c.2165T>A c.2266T>A c.2191T>A c.*2509T>A (n.*2509T>A) c.2202T>A (p.Leu734=) | |
| 19 | g.40396049A>C | CA405896575 | PRX | c.2303T>G (p.Leu768Arg) c.1886T>G (p.Leu629Arg) c.2588T>G (p.Leu863Arg) c.2178T>G c.2164T>G c.2265T>G c.2190T>G c.*2508T>G (n.*2508T>G) c.2201T>G (p.Leu734Arg) | |
| 19 | g.40396049A>G | CA405896576 | PRX | c.2303T>C (p.Leu768Pro) c.1886T>C (p.Leu629Pro) c.2588T>C (p.Leu863Pro) c.2178T>C c.2164T>C c.2265T>C c.2190T>C c.*2508T>C (n.*2508T>C) c.2201T>C (p.Leu734Pro) | |
| 19 | g.40396049A>T | CA405896577 | PRX | c.2303T>A (p.Leu768His) c.1886T>A (p.Leu629His) c.2588T>A (p.Leu863His) c.2178T>A c.2164T>A c.2265T>A c.2190T>A c.*2508T>A (n.*2508T>A) c.2201T>A (p.Leu734His) | |
| 19 | g.40396050G>A | CA405896579 | PRX | c.2302C>T (p.Leu768Phe) c.1885C>T (p.Leu629Phe) c.2587C>T (p.Leu863Phe) c.2177C>T c.2163C>T c.2264C>T c.2189C>T c.*2507C>T (n.*2507C>T) c.2200C>T (p.Leu734Phe) | |
| 19 | g.40396050G>C | CA405896580 | PRX | c.2302C>G (p.Leu768Val) c.1885C>G (p.Leu629Val) c.2587C>G (p.Leu863Val) c.2177C>G c.2163C>G c.2264C>G c.2189C>G c.*2507C>G (n.*2507C>G) c.2200C>G (p.Leu734Val) | |
| 19 | g.40396050G>T | CA405896578 | PRX | c.2302C>A (p.Leu768Ile) c.1885C>A (p.Leu629Ile) c.2587C>A (p.Leu863Ile) c.2177C>A c.2163C>A c.2264C>A c.2189C>A c.*2507C>A (n.*2507C>A) c.2200C>A (p.Leu734Ile) | |
| 19 | g.40396051del | CA2739276800 | PRX | c.2301del (p.Leu768PhefsTer7) c.1884del (p.Leu629PhefsTer7) c.2586del (p.Leu863PhefsTer7) c.2176del c.2162del c.2263del c.2188del c.*2506del (n.*2506del) c.2199del (p.Leu734PhefsTer7) | ClinVar |
| 19 | g.40396051A= | CA2335961431 | PRX | c.2301T= (p.His767=) c.1884T= (p.His628=) c.2586T= (p.His862=) c.2176T= c.2162T= c.2263T= c.2188T= c.*2506T= (n.*2506T=) c.2199T= (p.His733=) | |
| 19 | g.40396051A>C | CA405896581 | PRX | c.2301T>G (p.His767Gln) c.1884T>G (p.His628Gln) c.2586T>G (p.His862Gln) c.2176T>G c.2162T>G c.2263T>G c.2188T>G c.*2506T>G (n.*2506T>G) c.2199T>G (p.His733Gln) | |
| 19 | g.40396051A>G | CA9444077 | PRX | c.2301T>C (p.His767=) c.1884T>C (p.His628=) c.2586T>C (p.His862=) c.2176T>C c.2162T>C c.2263T>C c.2188T>C c.*2506T>C (n.*2506T>C) c.2199T>C (p.His733=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396051A>T | CA405896582 | PRX | c.2301T>A (p.His767Gln) c.1884T>A (p.His628Gln) c.2586T>A (p.His862Gln) c.2176T>A c.2162T>A c.2263T>A c.2188T>A c.*2506T>A (n.*2506T>A) c.2199T>A (p.His733Gln) | |
| 19 | g.40396052T>A | CA405896583 | PRX | c.2300A>T (p.His767Leu) c.1883A>T (p.His628Leu) c.2585A>T (p.His862Leu) c.2175A>T c.2161A>T c.2262A>T c.2187A>T c.*2505A>T (n.*2505A>T) c.2198A>T (p.His733Leu) | |
| 19 | g.40396052T>C | CA405896584 | PRX | c.2300A>G (p.His767Arg) c.1883A>G (p.His628Arg) c.2585A>G (p.His862Arg) c.2175A>G c.2161A>G c.2262A>G c.2187A>G c.*2505A>G (n.*2505A>G) c.2198A>G (p.His733Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.40396052T>G | CA9444078 | PRX | c.2300A>C (p.His767Pro) c.1883A>C (p.His628Pro) c.2585A>C (p.His862Pro) c.2175A>C c.2161A>C c.2262A>C c.2187A>C c.*2505A>C (n.*2505A>C) c.2198A>C (p.His733Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396052T= | CA2335961432 | PRX | c.2300A= (p.His767=) c.1883A= (p.His628=) c.2585A= (p.His862=) c.2175A= c.2161A= c.2262A= c.2187A= c.*2505A= (n.*2505A=) c.2198A= (p.His733=) | |
| 19 | g.40396053G>A | CA405896585 | PRX | c.2299C>T (p.His767Tyr) c.1882C>T (p.His628Tyr) c.2584C>T (p.His862Tyr) c.2174C>T c.2160C>T c.2261C>T c.2186C>T c.*2504C>T (n.*2504C>T) c.2197C>T (p.His733Tyr) | gnomAD v4 |
| 19 | g.40396053G>C | CA405896586 | PRX | c.2299C>G (p.His767Asp) c.1882C>G (p.His628Asp) c.2584C>G (p.His862Asp) c.2174C>G c.2160C>G c.2261C>G c.2186C>G c.*2504C>G (n.*2504C>G) c.2197C>G (p.His733Asp) | |
| 19 | g.40396053G>T | CA405896587 | PRX | c.2299C>A (p.His767Asn) c.1882C>A (p.His628Asn) c.2584C>A (p.His862Asn) c.2174C>A c.2160C>A c.2261C>A c.2186C>A c.*2504C>A (n.*2504C>A) c.2197C>A (p.His733Asn) | |
| 19 | g.40396054C>A | CA507679480 | PRX | c.2298G>T (p.Val766=) c.1881G>T (p.Val627=) c.2583G>T (p.Val861=) c.2173G>T c.2159G>T c.2260G>T c.2185G>T c.*2503G>T (n.*2503G>T) c.2196G>T (p.Val732=) | |
| 19 | g.40396054C>G | CA507679481 | PRX | c.2298G>C (p.Val766=) c.1881G>C (p.Val627=) c.2583G>C (p.Val861=) c.2173G>C c.2159G>C c.2260G>C c.2185G>C c.*2503G>C (n.*2503G>C) c.2196G>C (p.Val732=) | |
| 19 | g.40396054C>T | CA507679482 | PRX | c.2298G>A (p.Val766=) c.1881G>A (p.Val627=) c.2583G>A (p.Val861=) c.2173G>A c.2159G>A c.2260G>A c.2185G>A c.*2503G>A (n.*2503G>A) c.2196G>A (p.Val732=) | |
| 19 | g.40396055A= | CA2335961433 | PRX | c.2297T= (p.Val766=) c.1880T= (p.Val627=) c.2582T= (p.Val861=) c.2172T= c.2158T= c.2259T= c.2184T= c.*2502T= (n.*2502T=) c.2195T= (p.Val732=) | |
| 19 | g.40396055A>C | CA405896588 | PRX | c.2297T>G (p.Val766Gly) c.1880T>G (p.Val627Gly) c.2582T>G (p.Val861Gly) c.2172T>G c.2158T>G c.2259T>G c.2184T>G c.*2502T>G (n.*2502T>G) c.2195T>G (p.Val732Gly) | dbSNP |
| 19 | g.40396055A>G | CA405896589 | PRX | c.2297T>C (p.Val766Ala) c.1880T>C (p.Val627Ala) c.2582T>C (p.Val861Ala) c.2172T>C c.2158T>C c.2259T>C c.2184T>C c.*2502T>C (n.*2502T>C) c.2195T>C (p.Val732Ala) | ClinVar dbSNP |
| 19 | g.40396055A>T | CA405896590 | PRX | c.2297T>A (p.Val766Glu) c.1880T>A (p.Val627Glu) c.2582T>A (p.Val861Glu) c.2172T>A c.2158T>A c.2259T>A c.2184T>A c.*2502T>A (n.*2502T>A) c.2195T>A (p.Val732Glu) | |
| 19 | g.40396056C>A | CA405896592 | PRX | c.2296G>T (p.Val766Leu) c.1879G>T (p.Val627Leu) c.2581G>T (p.Val861Leu) c.2171G>T c.2157G>T c.2258G>T c.2183G>T c.*2501G>T (n.*2501G>T) c.2194G>T (p.Val732Leu) | |
| 19 | g.40396056C= | CA2335961434 | PRX | c.2296G= (p.Val766=) c.1879G= (p.Val627=) c.2581G= (p.Val861=) c.2171G= c.2157G= c.2258G= c.2183G= c.*2501G= (n.*2501G=) c.2194G= (p.Val732=) | |
| 19 | g.40396056C>G | CA405896591 | PRX | c.2296G>C (p.Val766Leu) c.1879G>C (p.Val627Leu) c.2581G>C (p.Val861Leu) c.2171G>C c.2157G>C c.2258G>C c.2183G>C c.*2501G>C (n.*2501G>C) c.2194G>C (p.Val732Leu) | gnomAD v4 |
| 19 | g.40396056C>T | CA9444079 | PRX | c.2296G>A (p.Val766Met) c.1879G>A (p.Val627Met) c.2581G>A (p.Val861Met) c.2171G>A c.2157G>A c.2258G>A c.2183G>A c.*2501G>A (n.*2501G>A) c.2194G>A (p.Val732Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396057G>A | CA9444080 | PRX | c.2295C>T (p.Asp765=) c.1878C>T (p.Asp626=) c.2580C>T (p.Asp860=) c.2170C>T c.2156C>T c.2257C>T c.2182C>T c.*2500C>T (n.*2500C>T) c.2193C>T (p.Asp731=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396057G>C | CA405896593 | PRX | c.2295C>G (p.Asp765Glu) c.1878C>G (p.Asp626Glu) c.2580C>G (p.Asp860Glu) c.2170C>G c.2156C>G c.2257C>G c.2182C>G c.*2500C>G (n.*2500C>G) c.2193C>G (p.Asp731Glu) | |
| 19 | g.40396057G= | CA2335961435 | PRX | c.2295C= (p.Asp765=) c.1878C= (p.Asp626=) c.2580C= (p.Asp860=) c.2170C= c.2156C= c.2257C= c.2182C= c.*2500C= (n.*2500C=) c.2193C= (p.Asp731=) | |
| 19 | g.40396057G>T | CA405896594 | PRX | c.2295C>A (p.Asp765Glu) c.1878C>A (p.Asp626Glu) c.2580C>A (p.Asp860Glu) c.2170C>A c.2156C>A c.2257C>A c.2182C>A c.*2500C>A (n.*2500C>A) c.2193C>A (p.Asp731Glu) |