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.40396123_40396230del | CA995889216 | PRX | c.2136_2243del (p.Lys713_Pro748del) c.1719_1826del (p.Lys574_Pro609del) c.2421_2528del (p.Lys808_Pro843del) c.2011_2118del c.1997_2104del c.2098_2205del c.2023_2130del c.*2341_*2448del (n.*2341_*2448del) c.2034_2141del (p.Lys679_Pro714del) | gnomAD v3 gnomAD v4 |
| 19 | g.40396114C>A | CA405896699 | PRX | c.2238G>T (p.Gln746His) c.1821G>T (p.Gln607His) c.2523G>T (p.Gln841His) c.2113G>T c.2099G>T c.2200G>T c.2125G>T c.*2443G>T (n.*2443G>T) c.2136G>T (p.Gln712His) | |
| 19 | g.40396114C>G | CA405896698 | PRX | c.2238G>C (p.Gln746His) c.1821G>C (p.Gln607His) c.2523G>C (p.Gln841His) c.2113G>C c.2099G>C c.2200G>C c.2125G>C c.*2443G>C (n.*2443G>C) c.2136G>C (p.Gln712His) | dbSNP |
| 19 | g.40396114C>T | CA507679307 | PRX | c.2238G>A (p.Gln746=) c.1821G>A (p.Gln607=) c.2523G>A (p.Gln841=) c.2113G>A c.2099G>A c.2200G>A c.2125G>A c.*2443G>A (n.*2443G>A) c.2136G>A (p.Gln712=) | |
| 19 | g.40396115T>A | CA405896700 | PRX | c.2237A>T (p.Gln746Leu) c.1820A>T (p.Gln607Leu) c.2522A>T (p.Gln841Leu) c.2112A>T c.2098A>T c.2199A>T c.2124A>T c.*2442A>T (n.*2442A>T) c.2135A>T (p.Gln712Leu) | |
| 19 | g.40396115T>C | CA405896702 | PRX | c.2237A>G (p.Gln746Arg) c.1820A>G (p.Gln607Arg) c.2522A>G (p.Gln841Arg) c.2112A>G c.2098A>G c.2199A>G c.2124A>G c.*2442A>G (n.*2442A>G) c.2135A>G (p.Gln712Arg) | |
| 19 | g.40396115T>G | CA405896701 | PRX | c.2237A>C (p.Gln746Pro) c.1820A>C (p.Gln607Pro) c.2522A>C (p.Gln841Pro) c.2112A>C c.2098A>C c.2199A>C c.2124A>C c.*2442A>C (n.*2442A>C) c.2135A>C (p.Gln712Pro) | gnomAD v4 |
| 19 | g.40396116G>A | CA405896703 | PRX | c.2236C>T (p.Gln746Ter) c.1819C>T (p.Gln607Ter) c.2521C>T (p.Gln841Ter) c.2111C>T c.2097C>T c.2198C>T c.2123C>T c.*2441C>T (n.*2441C>T) c.2134C>T (p.Gln712Ter) | |
| 19 | g.40396116G>C | CA405896704 | PRX | c.2236C>G (p.Gln746Glu) c.1819C>G (p.Gln607Glu) c.2521C>G (p.Gln841Glu) c.2111C>G c.2097C>G c.2198C>G c.2123C>G c.*2441C>G (n.*2441C>G) c.2134C>G (p.Gln712Glu) | |
| 19 | g.40396116G>T | CA405896705 | PRX | c.2236C>A (p.Gln746Lys) c.1819C>A (p.Gln607Lys) c.2521C>A (p.Gln841Lys) c.2111C>A c.2097C>A c.2198C>A c.2123C>A c.*2441C>A (n.*2441C>A) c.2134C>A (p.Gln712Lys) | |
| 19 | g.40396117C>A | CA507679308 | PRX | c.2235G>T (p.Val745=) c.1818G>T (p.Val606=) c.2520G>T (p.Val840=) c.2110G>T c.2096G>T c.2197G>T c.2122G>T c.*2440G>T (n.*2440G>T) c.2133G>T (p.Val711=) | |
| 19 | g.40396117C= | CA2335961470 | PRX | c.2235G= (p.Val745=) c.1818G= (p.Val606=) c.2520G= (p.Val840=) c.2110G= c.2096G= c.2197G= c.2122G= c.*2440G= (n.*2440G=) c.2133G= (p.Val711=) | |
| 19 | g.40396117C>G | CA507679309 | PRX | c.2235G>C (p.Val745=) c.1818G>C (p.Val606=) c.2520G>C (p.Val840=) c.2110G>C c.2096G>C c.2197G>C c.2122G>C c.*2440G>C (n.*2440G>C) c.2133G>C (p.Val711=) | |
| 19 | g.40396117C>T | CA9444106 | PRX | c.2235G>A (p.Val745=) c.1818G>A (p.Val606=) c.2520G>A (p.Val840=) c.2110G>A c.2096G>A c.2197G>A c.2122G>A c.*2440G>A (n.*2440G>A) c.2133G>A (p.Val711=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396118_40396119del | CA2585127080 | PRX | c.2234_2235del (p.Val745AlafsTer?) c.1817_1818del (p.Val606AlafsTer?) c.2519_2520del (p.Val840AlafsTer?) c.2109_2110del c.2095_2096del c.2196_2197del c.2121_2122del c.*2439_*2440del (n.*2439_*2440del) c.2132_2133del (p.Val711AlafsTer?) | gnomAD v4 |
| 19 | g.40396118A>C | CA405896706 | PRX | c.2234T>G (p.Val745Gly) c.1817T>G (p.Val606Gly) c.2519T>G (p.Val840Gly) c.2109T>G c.2095T>G c.2196T>G c.2121T>G c.*2439T>G (n.*2439T>G) c.2132T>G (p.Val711Gly) | |
| 19 | g.40396118A>G | CA405896707 | PRX | c.2234T>C (p.Val745Ala) c.1817T>C (p.Val606Ala) c.2519T>C (p.Val840Ala) c.2109T>C c.2095T>C c.2196T>C c.2121T>C c.*2439T>C (n.*2439T>C) c.2132T>C (p.Val711Ala) | |
| 19 | g.40396118A>T | CA405896708 | PRX | c.2234T>A (p.Val745Glu) c.1817T>A (p.Val606Glu) c.2519T>A (p.Val840Glu) c.2109T>A c.2095T>A c.2196T>A c.2121T>A c.*2439T>A (n.*2439T>A) c.2132T>A (p.Val711Glu) | |
| 19 | g.40396119C>A | CA405896709 | PRX | c.2233G>T (p.Val745Leu) c.1816G>T (p.Val606Leu) c.2518G>T (p.Val840Leu) c.2108G>T c.2094G>T c.2195G>T c.2120G>T c.*2438G>T (n.*2438G>T) c.2131G>T (p.Val711Leu) | |
| 19 | g.40396119C= | CA2335961471 | PRX | c.2233G= (p.Val745=) c.1816G= (p.Val606=) c.2518G= (p.Val840=) c.2108G= c.2094G= c.2195G= c.2120G= c.*2438G= (n.*2438G=) c.2131G= (p.Val711=) | |
| 19 | g.40396119C>G | CA405896710 | PRX | c.2233G>C (p.Val745Leu) c.1816G>C (p.Val606Leu) c.2518G>C (p.Val840Leu) c.2108G>C c.2094G>C c.2195G>C c.2120G>C c.*2438G>C (n.*2438G>C) c.2131G>C (p.Val711Leu) | |
| 19 | g.40396119C>T | CA405896711 | PRX | c.2233G>A (p.Val745Met) c.1816G>A (p.Val606Met) c.2518G>A (p.Val840Met) c.2108G>A c.2094G>A c.2195G>A c.2120G>A c.*2438G>A (n.*2438G>A) c.2131G>A (p.Val711Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396120del | CA2582157878 | PRX | c.2233del (p.Val745CysfsTer30) c.1816del (p.Val606CysfsTer30) c.2518del (p.Val840CysfsTer30) c.2108del c.2094del c.2195del c.2120del c.*2438del (n.*2438del) c.2131del (p.Val711CysfsTer30) | gnomAD v3 gnomAD v4 |
| 19 | g.40396120C>A | CA405896712 | PRX | c.2232G>T (p.Glu744Asp) c.1815G>T (p.Glu605Asp) c.2517G>T (p.Glu839Asp) c.2107G>T c.2093G>T c.2194G>T c.2119G>T c.*2437G>T (n.*2437G>T) c.2130G>T (p.Glu710Asp) | |
| 19 | g.40396120C>G | CA405896713 | PRX | c.2232G>C (p.Glu744Asp) c.1815G>C (p.Glu605Asp) c.2517G>C (p.Glu839Asp) c.2107G>C c.2093G>C c.2194G>C c.2119G>C c.*2437G>C (n.*2437G>C) c.2130G>C (p.Glu710Asp) | |
| 19 | g.40396120C>T | CA507679310 | PRX | c.2232G>A (p.Glu744=) c.1815G>A (p.Glu605=) c.2517G>A (p.Glu839=) c.2107G>A c.2093G>A c.2194G>A c.2119G>A c.*2437G>A (n.*2437G>A) c.2130G>A (p.Glu710=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396121T>A | CA405896716 | PRX | c.2231A>T (p.Glu744Val) c.1814A>T (p.Glu605Val) c.2516A>T (p.Glu839Val) c.2106A>T c.2092A>T c.2193A>T c.2118A>T c.*2436A>T (n.*2436A>T) c.2129A>T (p.Glu710Val) | |
| 19 | g.40396121T>C | CA405896714 | PRX | c.2231A>G (p.Glu744Gly) c.1814A>G (p.Glu605Gly) c.2516A>G (p.Glu839Gly) c.2106A>G c.2092A>G c.2193A>G c.2118A>G c.*2436A>G (n.*2436A>G) c.2129A>G (p.Glu710Gly) | dbSNP |
| 19 | g.40396121T>G | CA405896715 | PRX | c.2231A>C (p.Glu744Ala) c.1814A>C (p.Glu605Ala) c.2516A>C (p.Glu839Ala) c.2106A>C c.2092A>C c.2193A>C c.2118A>C c.*2436A>C (n.*2436A>C) c.2129A>C (p.Glu710Ala) | |
| 19 | g.40396121T= | CA2335961472 | PRX | c.2231A= (p.Glu744=) c.1814A= (p.Glu605=) c.2516A= (p.Glu839=) c.2106A= c.2092A= c.2193A= c.2118A= c.*2436A= (n.*2436A=) c.2129A= (p.Glu710=) | |
| 19 | g.40396122C>A | CA405896717 | PRX | c.2230G>T (p.Glu744Ter) c.1813G>T (p.Glu605Ter) c.2515G>T (p.Glu839Ter) c.2105G>T c.2091G>T c.2192G>T c.2117G>T c.*2435G>T (n.*2435G>T) c.2128G>T (p.Glu710Ter) | |
| 19 | g.40396122C= | CA2335961473 | PRX | c.2230G= (p.Glu744=) c.1813G= (p.Glu605=) c.2515G= (p.Glu839=) c.2105G= c.2091G= c.2192G= c.2117G= c.*2435G= (n.*2435G=) c.2128G= (p.Glu710=) | |
| 19 | g.40396122C>G | CA405896718 | PRX | c.2230G>C (p.Glu744Gln) c.1813G>C (p.Glu605Gln) c.2515G>C (p.Glu839Gln) c.2105G>C c.2091G>C c.2192G>C c.2117G>C c.*2435G>C (n.*2435G>C) c.2128G>C (p.Glu710Gln) | |
| 19 | g.40396122C>T | CA405896719 | PRX | c.2230G>A (p.Glu744Lys) c.1813G>A (p.Glu605Lys) c.2515G>A (p.Glu839Lys) c.2105G>A c.2091G>A c.2192G>A c.2117G>A c.*2435G>A (n.*2435G>A) c.2128G>A (p.Glu710Lys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40396123G>A | CA9444107 | PRX | c.2229C>T (p.Pro743=) c.1812C>T (p.Pro604=) c.2514C>T (p.Pro838=) c.2104C>T c.2090C>T c.2191C>T c.2116C>T c.*2434C>T (n.*2434C>T) c.2127C>T (p.Pro709=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396123G>C | CA507679314 | PRX | c.2229C>G (p.Pro743=) c.1812C>G (p.Pro604=) c.2514C>G (p.Pro838=) c.2104C>G c.2090C>G c.2191C>G c.2116C>G c.*2434C>G (n.*2434C>G) c.2127C>G (p.Pro709=) | ClinVar gnomAD v3 gnomAD v4 |
| 19 | g.40396123G= | CA2335961474 | PRX | c.2229C= (p.Pro743=) c.1812C= (p.Pro604=) c.2514C= (p.Pro838=) c.2104C= c.2090C= c.2191C= c.2116C= c.*2434C= (n.*2434C=) c.2127C= (p.Pro709=) | |
| 19 | g.40396123G>T | CA507679315 | PRX | c.2229C>A (p.Pro743=) c.1812C>A (p.Pro604=) c.2514C>A (p.Pro838=) c.2104C>A c.2090C>A c.2191C>A c.2116C>A c.*2434C>A (n.*2434C>A) c.2127C>A (p.Pro709=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396126dup | CA308419571 | PRX | c.2229dup (p.Glu744ArgfsTer?) c.1812dup (p.Glu605ArgfsTer?) c.2514dup (p.Glu839ArgfsTer?) c.2104dup c.2090dup c.2191dup c.2116dup c.*2434dup (n.*2434dup) c.2127dup (p.Glu710ArgfsTer?) | dbSNP |
| 19 | g.40396123_40396231delinsGGGGAGGTGCACATCGGGCACAGCCATCTCAGGCACCTTGGGGAGTTTTATCTCTGGGAGCTTCATGTCAGGGACTTTCATTTCACAGACTTTGGGCAGCTGCACCTCT | CA2335961475 | PRX | c.2121_2229delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro707=) c.1704_1812delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro568=) c.2406_2514delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro802=) c.1996_2104delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC c.1982_2090delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC c.2083_2191delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC c.2008_2116delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC c.*2326_*2434delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (n.*2326_*2434delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC) c.2019_2127delinsAGAGGTGCAGCTGCCCAAAGTCTGTGAAATGAAAGTCCCTGACATGAAGCTCCCAGAGATAAAACTCCCCAAGGTGCCTGAGATGGCTGTGCCCGATGTGCACCTCCCC (p.Pro673=) | |
| 19 | g.40396124G>A | CA405896720 | PRX | c.2228C>T (p.Pro743Leu) c.1811C>T (p.Pro604Leu) c.2513C>T (p.Pro838Leu) c.2103C>T c.2089C>T c.2190C>T c.2115C>T c.*2433C>T (n.*2433C>T) c.2126C>T (p.Pro709Leu) | dbSNP gnomAD v2 |
| 19 | g.40396124G>C | CA405896721 | PRX | c.2228C>G (p.Pro743Arg) c.1811C>G (p.Pro604Arg) c.2513C>G (p.Pro838Arg) c.2103C>G c.2089C>G c.2190C>G c.2115C>G c.*2433C>G (n.*2433C>G) c.2126C>G (p.Pro709Arg) | |
| 19 | g.40396124G= | CA2335961476 | PRX | c.2228C= (p.Pro743=) c.1811C= (p.Pro604=) c.2513C= (p.Pro838=) c.2103C= c.2089C= c.2190C= c.2115C= c.*2433C= (n.*2433C=) c.2126C= (p.Pro709=) | |
| 19 | g.40396124G>T | CA405896722 | PRX | c.2228C>A (p.Pro743His) c.1811C>A (p.Pro604His) c.2513C>A (p.Pro838His) c.2103C>A c.2089C>A c.2190C>A c.2115C>A c.*2433C>A (n.*2433C>A) c.2126C>A (p.Pro709His) | |
| 19 | g.40396144_40396251del | CA633466290 | PRX | c.2121_2228del (p.Glu708_Pro743del) c.1704_1811del (p.Glu569_Pro604del) c.2406_2513del (p.Glu803_Pro838del) c.1996_2103del c.1982_2089del c.2083_2190del c.2008_2115del c.*2326_*2433del (n.*2326_*2433del) c.2019_2126del (p.Glu674_Pro709del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396125G>A | CA405896723 | PRX | c.2227C>T (p.Pro743Ser) c.1810C>T (p.Pro604Ser) c.2512C>T (p.Pro838Ser) c.2102C>T c.2088C>T c.2189C>T c.2114C>T c.*2432C>T (n.*2432C>T) c.2125C>T (p.Pro709Ser) | ClinVar gnomAD v4 |
| 19 | g.40396125G>C | CA405896724 | PRX | c.2227C>G (p.Pro743Ala) c.1810C>G (p.Pro604Ala) c.2512C>G (p.Pro838Ala) c.2102C>G c.2088C>G c.2189C>G c.2114C>G c.*2432C>G (n.*2432C>G) c.2125C>G (p.Pro709Ala) | |
| 19 | g.40396125G>T | CA405896725 | PRX | c.2227C>A (p.Pro743Thr) c.1810C>A (p.Pro604Thr) c.2512C>A (p.Pro838Thr) c.2102C>A c.2088C>A c.2189C>A c.2114C>A c.*2432C>A (n.*2432C>A) c.2125C>A (p.Pro709Thr) | |
| 19 | g.40396126G>A | CA507679316 | PRX | c.2226C>T (p.Leu742=) c.1809C>T (p.Leu603=) c.2511C>T (p.Leu837=) c.2101C>T c.2087C>T c.2188C>T c.2113C>T c.*2431C>T (n.*2431C>T) c.2124C>T (p.Leu708=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396126G>C | CA507679318 | PRX | c.2226C>G (p.Leu742=) c.1809C>G (p.Leu603=) c.2511C>G (p.Leu837=) c.2101C>G c.2087C>G c.2188C>G c.2113C>G c.*2431C>G (n.*2431C>G) c.2124C>G (p.Leu708=) |