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.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=) | |
| 19 | g.40396126G>T | CA507679319 | PRX | c.2226C>A (p.Leu742=) c.1809C>A (p.Leu603=) c.2511C>A (p.Leu837=) c.2101C>A c.2087C>A c.2188C>A c.2113C>A c.*2431C>A (n.*2431C>A) c.2124C>A (p.Leu708=) | |
| 19 | g.40396127A= | CA2335961477 | PRX | c.2225T= (p.Leu742=) c.1808T= (p.Leu603=) c.2510T= (p.Leu837=) c.2100T= c.2086T= c.2187T= c.2112T= c.*2430T= (n.*2430T=) c.2123T= (p.Leu708=) | |
| 19 | g.40396127A>C | CA405896727 | PRX | c.2225T>G (p.Leu742Arg) c.1808T>G (p.Leu603Arg) c.2510T>G (p.Leu837Arg) c.2100T>G c.2086T>G c.2187T>G c.2112T>G c.*2430T>G (n.*2430T>G) c.2123T>G (p.Leu708Arg) | |
| 19 | g.40396127A>G | CA308419580 | PRX | c.2225T>C (p.Leu742Pro) c.1808T>C (p.Leu603Pro) c.2510T>C (p.Leu837Pro) c.2100T>C c.2086T>C c.2187T>C c.2112T>C c.*2430T>C (n.*2430T>C) c.2123T>C (p.Leu708Pro) | dbSNP |
| 19 | g.40396127A>T | CA405896726 | PRX | c.2225T>A (p.Leu742His) c.1808T>A (p.Leu603His) c.2510T>A (p.Leu837His) c.2100T>A c.2086T>A c.2187T>A c.2112T>A c.*2430T>A (n.*2430T>A) c.2123T>A (p.Leu708His) | |
| 19 | g.40396127_40396130delinsAGGT | CA2335961478 | PRX | c.2222_2225delinsACCT (p.His741=) c.1805_1808delinsACCT (p.His602=) c.2507_2510delinsACCT (p.His836=) c.2097_2100delinsACCT c.2083_2086delinsACCT c.2184_2187delinsACCT c.2109_2112delinsACCT c.*2427_*2430delinsACCT (n.*2427_*2430delinsACCT) c.2120_2123delinsACCT (p.His707=) | |
| 19 | g.40396128G>A | CA405896728 | PRX | c.2224C>T (p.Leu742Phe) c.1807C>T (p.Leu603Phe) c.2509C>T (p.Leu837Phe) c.2099C>T c.2085C>T c.2186C>T c.2111C>T c.*2429C>T (n.*2429C>T) c.2122C>T (p.Leu708Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396128G>C | CA405896729 | PRX | c.2224C>G (p.Leu742Val) c.1807C>G (p.Leu603Val) c.2509C>G (p.Leu837Val) c.2099C>G c.2085C>G c.2186C>G c.2111C>G c.*2429C>G (n.*2429C>G) c.2122C>G (p.Leu708Val) | |
| 19 | g.40396128G= | CA2335961480 | PRX | c.2224C= (p.Leu742=) c.1807C= (p.Leu603=) c.2509C= (p.Leu837=) c.2099C= c.2085C= c.2186C= c.2111C= c.*2429C= (n.*2429C=) c.2122C= (p.Leu708=) | |
| 19 | g.40396128G>T | CA405896730 | PRX | c.2224C>A (p.Leu742Ile) c.1807C>A (p.Leu603Ile) c.2509C>A (p.Leu837Ile) c.2099C>A c.2085C>A c.2186C>A c.2111C>A c.*2429C>A (n.*2429C>A) c.2122C>A (p.Leu708Ile) | |
| 19 | g.40396129_40396131del | CA2335961479 | PRX | c.2222_2224del (p.His741del) c.1805_1807del (p.His602del) c.2507_2509del (p.His836del) c.2097_2099del c.2083_2085del c.2184_2186del c.2109_2111del c.*2427_*2429del (n.*2427_*2429del) c.2120_2122del (p.His707del) | dbSNP |
| 19 | g.40396129G>A | CA507679322 | PRX | c.2223C>T (p.His741=) c.1806C>T (p.His602=) c.2508C>T (p.His836=) c.2098C>T c.2084C>T c.2185C>T c.2110C>T c.*2428C>T (n.*2428C>T) c.2121C>T (p.His707=) | dbSNP gnomAD v4 |
| 19 | g.40396129G>C | CA405896731 | PRX | c.2223C>G (p.His741Gln) c.1806C>G (p.His602Gln) c.2508C>G (p.His836Gln) c.2098C>G c.2084C>G c.2185C>G c.2110C>G c.*2428C>G (n.*2428C>G) c.2121C>G (p.His707Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396129G= | CA2335961481 | PRX | c.2223C= (p.His741=) c.1806C= (p.His602=) c.2508C= (p.His836=) c.2098C= c.2084C= c.2185C= c.2110C= c.*2428C= (n.*2428C=) c.2121C= (p.His707=) | |
| 19 | g.40396129G>T | CA405896732 | PRX | c.2223C>A (p.His741Gln) c.1806C>A (p.His602Gln) c.2508C>A (p.His836Gln) c.2098C>A c.2084C>A c.2185C>A c.2110C>A c.*2428C>A (n.*2428C>A) c.2121C>A (p.His707Gln) | gnomAD v3 gnomAD v4 |
| 19 | g.40396130T>A | CA405896735 | PRX | c.2222A>T (p.His741Leu) c.1805A>T (p.His602Leu) c.2507A>T (p.His836Leu) c.2097A>T c.2083A>T c.2184A>T c.2109A>T c.*2427A>T (n.*2427A>T) c.2120A>T (p.His707Leu) | |
| 19 | g.40396130T>C | CA405896734 | PRX | c.2222A>G (p.His741Arg) c.1805A>G (p.His602Arg) c.2507A>G (p.His836Arg) c.2097A>G c.2083A>G c.2184A>G c.2109A>G c.*2427A>G (n.*2427A>G) c.2120A>G (p.His707Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396130T>G | CA405896733 | PRX | c.2222A>C (p.His741Pro) c.1805A>C (p.His602Pro) c.2507A>C (p.His836Pro) c.2097A>C c.2083A>C c.2184A>C c.2109A>C c.*2427A>C (n.*2427A>C) c.2120A>C (p.His707Pro) | dbSNP |
| 19 | g.40396130T= | CA2335961482 | PRX | c.2222A= (p.His741=) c.1805A= (p.His602=) c.2507A= (p.His836=) c.2097A= c.2083A= c.2184A= c.2109A= c.*2427A= (n.*2427A=) c.2120A= (p.His707=) | |
| 19 | g.40396131G>A | CA405896736 | PRX | c.2221C>T (p.His741Tyr) c.1804C>T (p.His602Tyr) c.2506C>T (p.His836Tyr) c.2096C>T c.2082C>T c.2183C>T c.2108C>T c.*2426C>T (n.*2426C>T) c.2119C>T (p.His707Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.40396131G>C | CA405896737 | PRX | c.2221C>G (p.His741Asp) c.1804C>G (p.His602Asp) c.2506C>G (p.His836Asp) c.2096C>G c.2082C>G c.2183C>G c.2108C>G c.*2426C>G (n.*2426C>G) c.2119C>G (p.His707Asp) | |
| 19 | g.40396131G= | CA2335961483 | PRX | c.2221C= (p.His741=) c.1804C= (p.His602=) c.2506C= (p.His836=) c.2096C= c.2082C= c.2183C= c.2108C= c.*2426C= (n.*2426C=) c.2119C= (p.His707=) | |
| 19 | g.40396131G>T | CA405896738 | PRX | c.2221C>A (p.His741Asn) c.1804C>A (p.His602Asn) c.2506C>A (p.His836Asn) c.2096C>A c.2082C>A c.2183C>A c.2108C>A c.*2426C>A (n.*2426C>A) c.2119C>A (p.His707Asn) | dbSNP |
| 19 | g.40396132C>A | CA507679326 | PRX | c.2220G>T (p.Val740=) c.1803G>T (p.Val601=) c.2505G>T (p.Val835=) c.2095G>T c.2081G>T c.2182G>T c.2107G>T c.*2425G>T (n.*2425G>T) c.2118G>T (p.Val706=) | gnomAD v3 gnomAD v4 |
| 19 | g.40396132C>G | CA507679327 | PRX | c.2220G>C (p.Val740=) c.1803G>C (p.Val601=) c.2505G>C (p.Val835=) c.2095G>C c.2081G>C c.2182G>C c.2107G>C c.*2425G>C (n.*2425G>C) c.2118G>C (p.Val706=) | |
| 19 | g.40396132C>T | CA507679328 | PRX | c.2220G>A (p.Val740=) c.1803G>A (p.Val601=) c.2505G>A (p.Val835=) c.2095G>A c.2081G>A c.2182G>A c.2107G>A c.*2425G>A (n.*2425G>A) c.2118G>A (p.Val706=) | |
| 19 | g.40396133A>C | CA405896739 | PRX | c.2219T>G (p.Val740Gly) c.1802T>G (p.Val601Gly) c.2504T>G (p.Val835Gly) c.2094T>G c.2080T>G c.2181T>G c.2106T>G c.*2424T>G (n.*2424T>G) c.2117T>G (p.Val706Gly) | gnomAD v4 |
| 19 | g.40396133A>G | CA405896740 | PRX | c.2219T>C (p.Val740Ala) c.1802T>C (p.Val601Ala) c.2504T>C (p.Val835Ala) c.2094T>C c.2080T>C c.2181T>C c.2106T>C c.*2424T>C (n.*2424T>C) c.2117T>C (p.Val706Ala) | |
| 19 | g.40396133A>T | CA405896741 | PRX | c.2219T>A (p.Val740Glu) c.1802T>A (p.Val601Glu) c.2504T>A (p.Val835Glu) c.2094T>A c.2080T>A c.2181T>A c.2106T>A c.*2424T>A (n.*2424T>A) c.2117T>A (p.Val706Glu) | |
| 19 | g.40396134C>A | CA405896742 | PRX | c.2218G>T (p.Val740Leu) c.1801G>T (p.Val601Leu) c.2503G>T (p.Val835Leu) c.2093G>T c.2079G>T c.2180G>T c.2105G>T c.*2423G>T (n.*2423G>T) c.2116G>T (p.Val706Leu) | COSMIC |
| 19 | g.40396134C= | CA2335961484 | PRX | c.2218G= (p.Val740=) c.1801G= (p.Val601=) c.2503G= (p.Val835=) c.2093G= c.2079G= c.2180G= c.2105G= c.*2423G= (n.*2423G=) c.2116G= (p.Val706=) | |
| 19 | g.40396134C>G | CA405896744 | PRX | c.2218G>C (p.Val740Leu) c.1801G>C (p.Val601Leu) c.2503G>C (p.Val835Leu) c.2093G>C c.2079G>C c.2180G>C c.2105G>C c.*2423G>C (n.*2423G>C) c.2116G>C (p.Val706Leu) | |
| 19 | g.40396134C>T | CA405896743 | PRX | c.2218G>A (p.Val740Met) c.1801G>A (p.Val601Met) c.2503G>A (p.Val835Met) c.2093G>A c.2079G>A c.2180G>A c.2105G>A c.*2423G>A (n.*2423G>A) c.2116G>A (p.Val706Met) | dbSNP gnomAD v4 |