UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.151408410T>A | CA341956069 | POGZ | c.2281A>T (p.Met761Leu) c.2074A>T (p.Met692Leu) c.2233A>T (p.Met745Leu) c.2254A>T (p.Met752Leu) n.2102A>T c.1948A>T (p.Met650Leu) c.2206A>T (p.Met736Leu) c.2101A>T (p.Met701Leu) n.144A>T c.433A>T (p.Met145Leu) c.2047A>T (p.Met683Leu) c.2125A>T (p.Met709Leu) c.1876A>T (p.Met626Leu) n.2063-170A>T c.2107A>T (p.Met703Leu) c.1033A>T (p.Met345Leu) n.2090-170A>T | gnomAD v4 |
| 1 | g.151408410T>C | CA341956072 | POGZ | c.2281A>G (p.Met761Val) c.2074A>G (p.Met692Val) c.2233A>G (p.Met745Val) c.2254A>G (p.Met752Val) n.2102A>G c.1948A>G (p.Met650Val) c.2206A>G (p.Met736Val) c.2101A>G (p.Met701Val) n.144A>G c.433A>G (p.Met145Val) c.2047A>G (p.Met683Val) c.2125A>G (p.Met709Val) c.1876A>G (p.Met626Val) n.2063-170A>G c.2107A>G (p.Met703Val) c.1033A>G (p.Met345Val) n.2090-170A>G | |
| 1 | g.151408410T>G | CA341956065 | POGZ | c.2281A>C (p.Met761Leu) c.2074A>C (p.Met692Leu) c.2233A>C (p.Met745Leu) c.2254A>C (p.Met752Leu) n.2102A>C c.1948A>C (p.Met650Leu) c.2206A>C (p.Met736Leu) c.2101A>C (p.Met701Leu) n.144A>C c.433A>C (p.Met145Leu) c.2047A>C (p.Met683Leu) c.2125A>C (p.Met709Leu) c.1876A>C (p.Met626Leu) n.2063-170A>C c.2107A>C (p.Met703Leu) c.1033A>C (p.Met345Leu) n.2090-170A>C | |
| 1 | g.151408413del | CA2647921109 | POGZ | c.2281del (p.Met761Ter) c.2074del (p.Met692Ter) c.2233del (p.Met745Ter) c.2254del (p.Met752Ter) n.2102del c.1948del (p.Met650Ter) c.2206del (p.Met736Ter) c.2101del (p.Met701Ter) n.144del c.433del (p.Met145Ter) c.2047del (p.Met683Ter) c.2125del (p.Met709Ter) c.1876del (p.Met626Ter) n.2063-170del c.2107del (p.Met703Ter) c.1033del (p.Met345Ter) n.2090-170del | gnomAD v4 |
| 1 | g.151408411T>A | CA341956079 | POGZ | c.2280A>T (p.Lys760Asn) c.2073A>T (p.Lys691Asn) c.2232A>T (p.Lys744Asn) c.2253A>T (p.Lys751Asn) n.2101A>T c.1947A>T (p.Lys649Asn) c.2205A>T (p.Lys735Asn) c.2100A>T (p.Lys700Asn) n.143A>T c.432A>T (p.Lys144Asn) c.2046A>T (p.Lys682Asn) c.2124A>T (p.Lys708Asn) c.1875A>T (p.Lys625Asn) n.2063-171A>T c.2106A>T (p.Lys702Asn) c.1032A>T (p.Lys344Asn) n.2090-171A>T | |
| 1 | g.151408411T>C | CA420910027 | POGZ | c.2280A>G (p.Lys760=) c.2073A>G (p.Lys691=) c.2232A>G (p.Lys744=) c.2253A>G (p.Lys751=) n.2101A>G c.1947A>G (p.Lys649=) c.2205A>G (p.Lys735=) c.2100A>G (p.Lys700=) n.143A>G c.432A>G (p.Lys144=) c.2046A>G (p.Lys682=) c.2124A>G (p.Lys708=) c.1875A>G (p.Lys625=) n.2063-171A>G c.2106A>G (p.Lys702=) c.1032A>G (p.Lys344=) n.2090-171A>G | |
| 1 | g.151408411T>G | CA341956082 | POGZ | c.2280A>C (p.Lys760Asn) c.2073A>C (p.Lys691Asn) c.2232A>C (p.Lys744Asn) c.2253A>C (p.Lys751Asn) n.2101A>C c.1947A>C (p.Lys649Asn) c.2205A>C (p.Lys735Asn) c.2100A>C (p.Lys700Asn) n.143A>C c.432A>C (p.Lys144Asn) c.2046A>C (p.Lys682Asn) c.2124A>C (p.Lys708Asn) c.1875A>C (p.Lys625Asn) n.2063-171A>C c.2106A>C (p.Lys702Asn) c.1032A>C (p.Lys344Asn) n.2090-171A>C | |
| 1 | g.151408412T>A | CA341956086 | POGZ | c.2279A>T (p.Lys760Ile) c.2072A>T (p.Lys691Ile) c.2231A>T (p.Lys744Ile) c.2252A>T (p.Lys751Ile) n.2100A>T c.1946A>T (p.Lys649Ile) c.2204A>T (p.Lys735Ile) c.2099A>T (p.Lys700Ile) n.142A>T c.431A>T (p.Lys144Ile) c.2045A>T (p.Lys682Ile) c.2123A>T (p.Lys708Ile) c.1874A>T (p.Lys625Ile) n.2063-172A>T c.2105A>T (p.Lys702Ile) c.1031A>T (p.Lys344Ile) n.2090-172A>T | |
| 1 | g.151408412T>C | CA341956089 | POGZ | c.2279A>G (p.Lys760Arg) c.2072A>G (p.Lys691Arg) c.2231A>G (p.Lys744Arg) c.2252A>G (p.Lys751Arg) n.2100A>G c.1946A>G (p.Lys649Arg) c.2204A>G (p.Lys735Arg) c.2099A>G (p.Lys700Arg) n.142A>G c.431A>G (p.Lys144Arg) c.2045A>G (p.Lys682Arg) c.2123A>G (p.Lys708Arg) c.1874A>G (p.Lys625Arg) n.2063-172A>G c.2105A>G (p.Lys702Arg) c.1031A>G (p.Lys344Arg) n.2090-172A>G | gnomAD v4 |
| 1 | g.151408412T>G | CA341956091 | POGZ | c.2279A>C (p.Lys760Thr) c.2072A>C (p.Lys691Thr) c.2231A>C (p.Lys744Thr) c.2252A>C (p.Lys751Thr) n.2100A>C c.1946A>C (p.Lys649Thr) c.2204A>C (p.Lys735Thr) c.2099A>C (p.Lys700Thr) n.142A>C c.431A>C (p.Lys144Thr) c.2045A>C (p.Lys682Thr) c.2123A>C (p.Lys708Thr) c.1874A>C (p.Lys625Thr) n.2063-172A>C c.2105A>C (p.Lys702Thr) c.1031A>C (p.Lys344Thr) n.2090-172A>C | |
| 1 | g.151408413T>A | CA341956094 | POGZ | c.2278A>T (p.Lys760Ter) c.2071A>T (p.Lys691Ter) c.2230A>T (p.Lys744Ter) c.2251A>T (p.Lys751Ter) n.2099A>T c.1945A>T (p.Lys649Ter) c.2203A>T (p.Lys735Ter) c.2098A>T (p.Lys700Ter) n.141A>T c.430A>T (p.Lys144Ter) c.2044A>T (p.Lys682Ter) c.2122A>T (p.Lys708Ter) c.1873A>T (p.Lys625Ter) n.2063-173A>T c.2104A>T (p.Lys702Ter) c.1030A>T (p.Lys344Ter) n.2090-173A>T | |
| 1 | g.151408413T>C | CA341956096 | POGZ | c.2278A>G (p.Lys760Glu) c.2071A>G (p.Lys691Glu) c.2230A>G (p.Lys744Glu) c.2251A>G (p.Lys751Glu) n.2099A>G c.1945A>G (p.Lys649Glu) c.2203A>G (p.Lys735Glu) c.2098A>G (p.Lys700Glu) n.141A>G c.430A>G (p.Lys144Glu) c.2044A>G (p.Lys682Glu) c.2122A>G (p.Lys708Glu) c.1873A>G (p.Lys625Glu) n.2063-173A>G c.2104A>G (p.Lys702Glu) c.1030A>G (p.Lys344Glu) n.2090-173A>G | |
| 1 | g.151408413T>G | CA341956099 | POGZ | c.2278A>C (p.Lys760Gln) c.2071A>C (p.Lys691Gln) c.2230A>C (p.Lys744Gln) c.2251A>C (p.Lys751Gln) n.2099A>C c.1945A>C (p.Lys649Gln) c.2203A>C (p.Lys735Gln) c.2098A>C (p.Lys700Gln) n.141A>C c.430A>C (p.Lys144Gln) c.2044A>C (p.Lys682Gln) c.2122A>C (p.Lys708Gln) c.1873A>C (p.Lys625Gln) n.2063-173A>C c.2104A>C (p.Lys702Gln) c.1030A>C (p.Lys344Gln) n.2090-173A>C | |
| 1 | g.151408414C>A | CA341956101 | POGZ | c.2277G>T (p.Arg759Ser) c.2070G>T (p.Arg690Ser) c.2229G>T (p.Arg743Ser) c.2250G>T (p.Arg750Ser) n.2098G>T c.1944G>T (p.Arg648Ser) c.2202G>T (p.Arg734Ser) c.2097G>T (p.Arg699Ser) n.140G>T c.429G>T (p.Arg143Ser) c.2043G>T (p.Arg681Ser) c.2121G>T (p.Arg707Ser) c.1872G>T (p.Arg624Ser) n.2063-174G>T c.2103G>T (p.Arg701Ser) c.1029G>T (p.Arg343Ser) n.2090-174G>T | gnomAD v4 |
| 1 | g.151408414C>G | CA341956103 | POGZ | c.2277G>C (p.Arg759Ser) c.2070G>C (p.Arg690Ser) c.2229G>C (p.Arg743Ser) c.2250G>C (p.Arg750Ser) n.2098G>C c.1944G>C (p.Arg648Ser) c.2202G>C (p.Arg734Ser) c.2097G>C (p.Arg699Ser) n.140G>C c.429G>C (p.Arg143Ser) c.2043G>C (p.Arg681Ser) c.2121G>C (p.Arg707Ser) c.1872G>C (p.Arg624Ser) n.2063-174G>C c.2103G>C (p.Arg701Ser) c.1029G>C (p.Arg343Ser) n.2090-174G>C | |
| 1 | g.151408414C>T | CA420910030 | POGZ | c.2277G>A (p.Arg759=) c.2070G>A (p.Arg690=) c.2229G>A (p.Arg743=) c.2250G>A (p.Arg750=) n.2098G>A c.1944G>A (p.Arg648=) c.2202G>A (p.Arg734=) c.2097G>A (p.Arg699=) n.140G>A c.429G>A (p.Arg143=) c.2043G>A (p.Arg681=) c.2121G>A (p.Arg707=) c.1872G>A (p.Arg624=) n.2063-174G>A c.2103G>A (p.Arg701=) c.1029G>A (p.Arg343=) n.2090-174G>A | |
| 1 | g.151408415C>A | CA341956106 | POGZ | c.2276G>T (p.Arg759Met) c.2069G>T (p.Arg690Met) c.2228G>T (p.Arg743Met) c.2249G>T (p.Arg750Met) n.2097G>T c.1943G>T (p.Arg648Met) c.2201G>T (p.Arg734Met) c.2096G>T (p.Arg699Met) n.139G>T c.428G>T (p.Arg143Met) c.2042G>T (p.Arg681Met) c.2120G>T (p.Arg707Met) c.1871G>T (p.Arg624Met) n.2063-175G>T c.2102G>T (p.Arg701Met) c.1028G>T (p.Arg343Met) n.2090-175G>T | |
| 1 | g.151408415C>G | CA341956108 | POGZ | c.2276G>C (p.Arg759Thr) c.2069G>C (p.Arg690Thr) c.2228G>C (p.Arg743Thr) c.2249G>C (p.Arg750Thr) n.2097G>C c.1943G>C (p.Arg648Thr) c.2201G>C (p.Arg734Thr) c.2096G>C (p.Arg699Thr) n.139G>C c.428G>C (p.Arg143Thr) c.2042G>C (p.Arg681Thr) c.2120G>C (p.Arg707Thr) c.1871G>C (p.Arg624Thr) n.2063-175G>C c.2102G>C (p.Arg701Thr) c.1028G>C (p.Arg343Thr) n.2090-175G>C | |
| 1 | g.151408415C>T | CA341956111 | POGZ | c.2276G>A (p.Arg759Lys) c.2069G>A (p.Arg690Lys) c.2228G>A (p.Arg743Lys) c.2249G>A (p.Arg750Lys) n.2097G>A c.1943G>A (p.Arg648Lys) c.2201G>A (p.Arg734Lys) c.2096G>A (p.Arg699Lys) n.139G>A c.428G>A (p.Arg143Lys) c.2042G>A (p.Arg681Lys) c.2120G>A (p.Arg707Lys) c.1871G>A (p.Arg624Lys) n.2063-175G>A c.2102G>A (p.Arg701Lys) c.1028G>A (p.Arg343Lys) n.2090-175G>A | gnomAD v4 |
| 1 | g.151408416T>A | CA341956115 | POGZ | c.2275A>T (p.Arg759Trp) c.2068A>T (p.Arg690Trp) c.2227A>T (p.Arg743Trp) c.2248A>T (p.Arg750Trp) n.2096A>T c.1942A>T (p.Arg648Trp) c.2200A>T (p.Arg734Trp) c.2095A>T (p.Arg699Trp) n.138A>T c.427A>T (p.Arg143Trp) c.2041A>T (p.Arg681Trp) c.2119A>T (p.Arg707Trp) c.1870A>T (p.Arg624Trp) n.2063-176A>T c.2101A>T (p.Arg701Trp) c.1027A>T (p.Arg343Trp) n.2090-176A>T | |
| 1 | g.151408416T>C | CA341956113 | POGZ | c.2275A>G (p.Arg759Gly) c.2068A>G (p.Arg690Gly) c.2227A>G (p.Arg743Gly) c.2248A>G (p.Arg750Gly) n.2096A>G c.1942A>G (p.Arg648Gly) c.2200A>G (p.Arg734Gly) c.2095A>G (p.Arg699Gly) n.138A>G c.427A>G (p.Arg143Gly) c.2041A>G (p.Arg681Gly) c.2119A>G (p.Arg707Gly) c.1870A>G (p.Arg624Gly) n.2063-176A>G c.2101A>G (p.Arg701Gly) c.1027A>G (p.Arg343Gly) n.2090-176A>G | |
| 1 | g.151408416T>G | CA420910031 | POGZ | c.2275A>C (p.Arg759=) c.2068A>C (p.Arg690=) c.2227A>C (p.Arg743=) c.2248A>C (p.Arg750=) n.2096A>C c.1942A>C (p.Arg648=) c.2200A>C (p.Arg734=) c.2095A>C (p.Arg699=) n.138A>C c.427A>C (p.Arg143=) c.2041A>C (p.Arg681=) c.2119A>C (p.Arg707=) c.1870A>C (p.Arg624=) n.2063-176A>C c.2101A>C (p.Arg701=) c.1027A>C (p.Arg343=) n.2090-176A>C | gnomAD v4 |
| 1 | g.151408417A>C | CA420910033 | POGZ | c.2274T>G (p.Val758=) c.2067T>G (p.Val689=) c.2226T>G (p.Val742=) c.2247T>G (p.Val749=) n.2095T>G c.1941T>G (p.Val647=) c.2199T>G (p.Val733=) c.2094T>G (p.Val698=) n.137T>G c.426T>G (p.Val142=) c.2040T>G (p.Val680=) c.2118T>G (p.Val706=) c.1869T>G (p.Val623=) n.2063-177T>G c.2100T>G (p.Val700=) c.1026T>G (p.Val342=) n.2090-177T>G | |
| 1 | g.151408417A>G | CA420910035 | POGZ | c.2274T>C (p.Val758=) c.2067T>C (p.Val689=) c.2226T>C (p.Val742=) c.2247T>C (p.Val749=) n.2095T>C c.1941T>C (p.Val647=) c.2199T>C (p.Val733=) c.2094T>C (p.Val698=) n.137T>C c.426T>C (p.Val142=) c.2040T>C (p.Val680=) c.2118T>C (p.Val706=) c.1869T>C (p.Val623=) n.2063-177T>C c.2100T>C (p.Val700=) c.1026T>C (p.Val342=) n.2090-177T>C | |
| 1 | g.151408417A>T | CA420910037 | POGZ | c.2274T>A (p.Val758=) c.2067T>A (p.Val689=) c.2226T>A (p.Val742=) c.2247T>A (p.Val749=) n.2095T>A c.1941T>A (p.Val647=) c.2199T>A (p.Val733=) c.2094T>A (p.Val698=) n.137T>A c.426T>A (p.Val142=) c.2040T>A (p.Val680=) c.2118T>A (p.Val706=) c.1869T>A (p.Val623=) n.2063-177T>A c.2100T>A (p.Val700=) c.1026T>A (p.Val342=) n.2090-177T>A | |
| 1 | g.151408418A>C | CA341956118 | POGZ | c.2273T>G (p.Val758Gly) c.2066T>G (p.Val689Gly) c.2225T>G (p.Val742Gly) c.2246T>G (p.Val749Gly) n.2094T>G c.1940T>G (p.Val647Gly) c.2198T>G (p.Val733Gly) c.2093T>G (p.Val698Gly) n.136T>G c.425T>G (p.Val142Gly) c.2039T>G (p.Val680Gly) c.2117T>G (p.Val706Gly) c.1868T>G (p.Val623Gly) n.2063-178T>G c.2099T>G (p.Val700Gly) c.1025T>G (p.Val342Gly) n.2090-178T>G | |
| 1 | g.151408418A>G | CA341956121 | POGZ | c.2273T>C (p.Val758Ala) c.2066T>C (p.Val689Ala) c.2225T>C (p.Val742Ala) c.2246T>C (p.Val749Ala) n.2094T>C c.1940T>C (p.Val647Ala) c.2198T>C (p.Val733Ala) c.2093T>C (p.Val698Ala) n.136T>C c.425T>C (p.Val142Ala) c.2039T>C (p.Val680Ala) c.2117T>C (p.Val706Ala) c.1868T>C (p.Val623Ala) n.2063-178T>C c.2099T>C (p.Val700Ala) c.1025T>C (p.Val342Ala) n.2090-178T>C | |
| 1 | g.151408418A>T | CA341956125 | POGZ | c.2273T>A (p.Val758Asp) c.2066T>A (p.Val689Asp) c.2225T>A (p.Val742Asp) c.2246T>A (p.Val749Asp) n.2094T>A c.1940T>A (p.Val647Asp) c.2198T>A (p.Val733Asp) c.2093T>A (p.Val698Asp) n.136T>A c.425T>A (p.Val142Asp) c.2039T>A (p.Val680Asp) c.2117T>A (p.Val706Asp) c.1868T>A (p.Val623Asp) n.2063-178T>A c.2099T>A (p.Val700Asp) c.1025T>A (p.Val342Asp) n.2090-178T>A | |
| 1 | g.151408419C>A | CA341956131 | POGZ | c.2272G>T (p.Val758Phe) c.2065G>T (p.Val689Phe) c.2224G>T (p.Val742Phe) c.2245G>T (p.Val749Phe) n.2093G>T c.1939G>T (p.Val647Phe) c.2197G>T (p.Val733Phe) c.2092G>T (p.Val698Phe) n.135G>T c.424G>T (p.Val142Phe) c.2038G>T (p.Val680Phe) c.2116G>T (p.Val706Phe) c.1867G>T (p.Val623Phe) n.2063-179G>T c.2098G>T (p.Val700Phe) c.1024G>T (p.Val342Phe) n.2090-179G>T | dbSNP gnomAD v4 |
| 1 | g.151408419C= | CA2479571481 | POGZ | c.2272G= (p.Val758=) c.2065G= (p.Val689=) c.2224G= (p.Val742=) c.2245G= (p.Val749=) n.2093G= c.1939G= (p.Val647=) c.2197G= (p.Val733=) c.2092G= (p.Val698=) n.135G= c.424G= (p.Val142=) c.2038G= (p.Val680=) c.2116G= (p.Val706=) c.1867G= (p.Val623=) n.2063-179G= c.2098G= (p.Val700=) c.1024G= (p.Val342=) n.2090-179G= | |
| 1 | g.151408419C>G | CA341956134 | POGZ | c.2272G>C (p.Val758Leu) c.2065G>C (p.Val689Leu) c.2224G>C (p.Val742Leu) c.2245G>C (p.Val749Leu) n.2093G>C c.1939G>C (p.Val647Leu) c.2197G>C (p.Val733Leu) c.2092G>C (p.Val698Leu) n.135G>C c.424G>C (p.Val142Leu) c.2038G>C (p.Val680Leu) c.2116G>C (p.Val706Leu) c.1867G>C (p.Val623Leu) n.2063-179G>C c.2098G>C (p.Val700Leu) c.1024G>C (p.Val342Leu) n.2090-179G>C | |
| 1 | g.151408419C>T | CA341956138 | POGZ | c.2272G>A (p.Val758Ile) c.2065G>A (p.Val689Ile) c.2224G>A (p.Val742Ile) c.2245G>A (p.Val749Ile) n.2093G>A c.1939G>A (p.Val647Ile) c.2197G>A (p.Val733Ile) c.2092G>A (p.Val698Ile) n.135G>A c.424G>A (p.Val142Ile) c.2038G>A (p.Val680Ile) c.2116G>A (p.Val706Ile) c.1867G>A (p.Val623Ile) n.2063-179G>A c.2098G>A (p.Val700Ile) c.1024G>A (p.Val342Ile) n.2090-179G>A | ClinVar gnomAD v4 |
| 1 | g.151408420A>C | CA420910040 | POGZ | c.2271T>G (p.Ala757=) c.2064T>G (p.Ala688=) c.2223T>G (p.Ala741=) c.2244T>G (p.Ala748=) n.2092T>G c.1938T>G (p.Ala646=) c.2196T>G (p.Ala732=) c.2091T>G (p.Ala697=) n.134T>G c.423T>G (p.Ala141=) c.2037T>G (p.Ala679=) c.2115T>G (p.Ala705=) c.1866T>G (p.Ala622=) n.2063-180T>G c.2097T>G (p.Ala699=) c.1023T>G (p.Ala341=) n.2090-180T>G | |
| 1 | g.151408420A>G | CA420910041 | POGZ | c.2271T>C (p.Ala757=) c.2064T>C (p.Ala688=) c.2223T>C (p.Ala741=) c.2244T>C (p.Ala748=) n.2092T>C c.1938T>C (p.Ala646=) c.2196T>C (p.Ala732=) c.2091T>C (p.Ala697=) n.134T>C c.423T>C (p.Ala141=) c.2037T>C (p.Ala679=) c.2115T>C (p.Ala705=) c.1866T>C (p.Ala622=) n.2063-180T>C c.2097T>C (p.Ala699=) c.1023T>C (p.Ala341=) n.2090-180T>C | gnomAD v4 |
| 1 | g.151408420A>T | CA420910042 | POGZ | c.2271T>A (p.Ala757=) c.2064T>A (p.Ala688=) c.2223T>A (p.Ala741=) c.2244T>A (p.Ala748=) n.2092T>A c.1938T>A (p.Ala646=) c.2196T>A (p.Ala732=) c.2091T>A (p.Ala697=) n.134T>A c.423T>A (p.Ala141=) c.2037T>A (p.Ala679=) c.2115T>A (p.Ala705=) c.1866T>A (p.Ala622=) n.2063-180T>A c.2097T>A (p.Ala699=) c.1023T>A (p.Ala341=) n.2090-180T>A | |
| 1 | g.151408421G>A | CA341956146 | POGZ | c.2270C>T (p.Ala757Val) c.2063C>T (p.Ala688Val) c.2222C>T (p.Ala741Val) c.2243C>T (p.Ala748Val) n.2091C>T c.1937C>T (p.Ala646Val) c.2195C>T (p.Ala732Val) c.2090C>T (p.Ala697Val) n.133C>T c.422C>T (p.Ala141Val) c.2036C>T (p.Ala679Val) c.2114C>T (p.Ala705Val) c.1865C>T (p.Ala622Val) n.2063-181C>T c.2096C>T (p.Ala699Val) c.1022C>T (p.Ala341Val) n.2090-181C>T | |
| 1 | g.151408421G>C | CA341956149 | POGZ | c.2270C>G (p.Ala757Gly) c.2063C>G (p.Ala688Gly) c.2222C>G (p.Ala741Gly) c.2243C>G (p.Ala748Gly) n.2091C>G c.1937C>G (p.Ala646Gly) c.2195C>G (p.Ala732Gly) c.2090C>G (p.Ala697Gly) n.133C>G c.422C>G (p.Ala141Gly) c.2036C>G (p.Ala679Gly) c.2114C>G (p.Ala705Gly) c.1865C>G (p.Ala622Gly) n.2063-181C>G c.2096C>G (p.Ala699Gly) c.1022C>G (p.Ala341Gly) n.2090-181C>G | |
| 1 | g.151408421G>T | CA341956153 | POGZ | c.2270C>A (p.Ala757Asp) c.2063C>A (p.Ala688Asp) c.2222C>A (p.Ala741Asp) c.2243C>A (p.Ala748Asp) n.2091C>A c.1937C>A (p.Ala646Asp) c.2195C>A (p.Ala732Asp) c.2090C>A (p.Ala697Asp) n.133C>A c.422C>A (p.Ala141Asp) c.2036C>A (p.Ala679Asp) c.2114C>A (p.Ala705Asp) c.1865C>A (p.Ala622Asp) n.2063-181C>A c.2096C>A (p.Ala699Asp) c.1022C>A (p.Ala341Asp) n.2090-181C>A | |
| 1 | g.151408421_151408423delinsGCT | CA2479571482 | POGZ | c.2268_2270delinsAGC (p.Arg756=) c.2061_2063delinsAGC (p.Arg687=) c.2220_2222delinsAGC (p.Arg740=) c.2241_2243delinsAGC (p.Arg747=) n.2089_2091delinsAGC c.1935_1937delinsAGC (p.Arg645=) c.2193_2195delinsAGC (p.Arg731=) c.2088_2090delinsAGC (p.Arg696=) n.131_133delinsAGC c.420_422delinsAGC (p.Arg140=) c.2034_2036delinsAGC (p.Arg678=) c.2112_2114delinsAGC (p.Arg704=) c.1863_1865delinsAGC (p.Arg621=) n.2063-183_2063-181delinsAGC c.2094_2096delinsAGC (p.Arg698=) c.1020_1022delinsAGC (p.Arg340=) n.2090-183_2090-181delinsAGC | |
| 1 | g.151408422C>A | CA341956157 | POGZ | c.2269G>T (p.Ala757Ser) c.2062G>T (p.Ala688Ser) c.2221G>T (p.Ala741Ser) c.2242G>T (p.Ala748Ser) n.2090G>T c.1936G>T (p.Ala646Ser) c.2194G>T (p.Ala732Ser) c.2089G>T (p.Ala697Ser) n.132G>T c.421G>T (p.Ala141Ser) c.2035G>T (p.Ala679Ser) c.2113G>T (p.Ala705Ser) c.1864G>T (p.Ala622Ser) n.2063-182G>T c.2095G>T (p.Ala699Ser) c.1021G>T (p.Ala341Ser) n.2090-182G>T | COSMIC COSMIC |
| 1 | g.151408422C>G | CA341956159 | POGZ | c.2269G>C (p.Ala757Pro) c.2062G>C (p.Ala688Pro) c.2221G>C (p.Ala741Pro) c.2242G>C (p.Ala748Pro) n.2090G>C c.1936G>C (p.Ala646Pro) c.2194G>C (p.Ala732Pro) c.2089G>C (p.Ala697Pro) n.132G>C c.421G>C (p.Ala141Pro) c.2035G>C (p.Ala679Pro) c.2113G>C (p.Ala705Pro) c.1864G>C (p.Ala622Pro) n.2063-182G>C c.2095G>C (p.Ala699Pro) c.1021G>C (p.Ala341Pro) n.2090-182G>C | |
| 1 | g.151408422C>T | CA341956161 | POGZ | c.2269G>A (p.Ala757Thr) c.2062G>A (p.Ala688Thr) c.2221G>A (p.Ala741Thr) c.2242G>A (p.Ala748Thr) n.2090G>A c.1936G>A (p.Ala646Thr) c.2194G>A (p.Ala732Thr) c.2089G>A (p.Ala697Thr) n.132G>A c.421G>A (p.Ala141Thr) c.2035G>A (p.Ala679Thr) c.2113G>A (p.Ala705Thr) c.1864G>A (p.Ala622Thr) n.2063-182G>A c.2095G>A (p.Ala699Thr) c.1021G>A (p.Ala341Thr) n.2090-182G>A | |
| 1 | g.151408426_151408427del | CA2479571483 | POGZ | c.2268_2269del (p.Arg756SerfsTer3) c.2061_2062del (p.Arg687SerfsTer3) c.2220_2221del (p.Arg740SerfsTer3) c.2241_2242del (p.Arg747SerfsTer3) n.2089_2090del c.1935_1936del (p.Arg645SerfsTer3) c.2193_2194del (p.Arg731SerfsTer3) c.2088_2089del (p.Arg696SerfsTer3) n.131_132del c.420_421del (p.Arg140SerfsTer3) c.2034_2035del (p.Arg678SerfsTer3) c.2112_2113del (p.Arg704SerfsTer3) c.1863_1864del (p.Arg621SerfsTer3) n.2063-183_2063-182del c.2094_2095del (p.Arg698SerfsTer3) c.1020_1021del (p.Arg340SerfsTer3) n.2090-183_2090-182del | ClinVar dbSNP |
| 1 | g.151408423T>A | CA341956166 | POGZ | c.2268A>T (p.Arg756Ser) c.2061A>T (p.Arg687Ser) c.2220A>T (p.Arg740Ser) c.2241A>T (p.Arg747Ser) n.2089A>T c.1935A>T (p.Arg645Ser) c.2193A>T (p.Arg731Ser) c.2088A>T (p.Arg696Ser) n.131A>T c.420A>T (p.Arg140Ser) c.2034A>T (p.Arg678Ser) c.2112A>T (p.Arg704Ser) c.1863A>T (p.Arg621Ser) n.2063-183A>T c.2094A>T (p.Arg698Ser) c.1020A>T (p.Arg340Ser) n.2090-183A>T | |
| 1 | g.151408423T>C | CA420910046 | POGZ | c.2268A>G (p.Arg756=) c.2061A>G (p.Arg687=) c.2220A>G (p.Arg740=) c.2241A>G (p.Arg747=) n.2089A>G c.1935A>G (p.Arg645=) c.2193A>G (p.Arg731=) c.2088A>G (p.Arg696=) n.131A>G c.420A>G (p.Arg140=) c.2034A>G (p.Arg678=) c.2112A>G (p.Arg704=) c.1863A>G (p.Arg621=) n.2063-183A>G c.2094A>G (p.Arg698=) c.1020A>G (p.Arg340=) n.2090-183A>G | gnomAD v4 |
| 1 | g.151408423T>G | CA341956175 | POGZ | c.2268A>C (p.Arg756Ser) c.2061A>C (p.Arg687Ser) c.2220A>C (p.Arg740Ser) c.2241A>C (p.Arg747Ser) n.2089A>C c.1935A>C (p.Arg645Ser) c.2193A>C (p.Arg731Ser) c.2088A>C (p.Arg696Ser) n.131A>C c.420A>C (p.Arg140Ser) c.2034A>C (p.Arg678Ser) c.2112A>C (p.Arg704Ser) c.1863A>C (p.Arg621Ser) n.2063-183A>C c.2094A>C (p.Arg698Ser) c.1020A>C (p.Arg340Ser) n.2090-183A>C | |
| 1 | g.151408424C>A | CA341956186 | POGZ | c.2267G>T (p.Arg756Ile) c.2060G>T (p.Arg687Ile) c.2219G>T (p.Arg740Ile) c.2240G>T (p.Arg747Ile) n.2088G>T c.1934G>T (p.Arg645Ile) c.2192G>T (p.Arg731Ile) c.2087G>T (p.Arg696Ile) n.130G>T c.419G>T (p.Arg140Ile) c.2033G>T (p.Arg678Ile) c.2111G>T (p.Arg704Ile) c.1862G>T (p.Arg621Ile) n.2063-184G>T c.2093G>T (p.Arg698Ile) c.1019G>T (p.Arg340Ile) n.2090-184G>T | |
| 1 | g.151408424C>G | CA341956183 | POGZ | c.2267G>C (p.Arg756Thr) c.2060G>C (p.Arg687Thr) c.2219G>C (p.Arg740Thr) c.2240G>C (p.Arg747Thr) n.2088G>C c.1934G>C (p.Arg645Thr) c.2192G>C (p.Arg731Thr) c.2087G>C (p.Arg696Thr) n.130G>C c.419G>C (p.Arg140Thr) c.2033G>C (p.Arg678Thr) c.2111G>C (p.Arg704Thr) c.1862G>C (p.Arg621Thr) n.2063-184G>C c.2093G>C (p.Arg698Thr) c.1019G>C (p.Arg340Thr) n.2090-184G>C | gnomAD v4 |
| 1 | g.151408424C>T | CA341956180 | POGZ | c.2267G>A (p.Arg756Lys) c.2060G>A (p.Arg687Lys) c.2219G>A (p.Arg740Lys) c.2240G>A (p.Arg747Lys) n.2088G>A c.1934G>A (p.Arg645Lys) c.2192G>A (p.Arg731Lys) c.2087G>A (p.Arg696Lys) n.130G>A c.419G>A (p.Arg140Lys) c.2033G>A (p.Arg678Lys) c.2111G>A (p.Arg704Lys) c.1862G>A (p.Arg621Lys) n.2063-184G>A c.2093G>A (p.Arg698Lys) c.1019G>A (p.Arg340Lys) n.2090-184G>A | |
| 1 | g.151408425T>A | CA341956194 | POGZ | c.2266A>T (p.Arg756Ter) c.2059A>T (p.Arg687Ter) c.2218A>T (p.Arg740Ter) c.2239A>T (p.Arg747Ter) n.2087A>T c.1933A>T (p.Arg645Ter) c.2191A>T (p.Arg731Ter) c.2086A>T (p.Arg696Ter) n.129A>T c.418A>T (p.Arg140Ter) c.2032A>T (p.Arg678Ter) c.2110A>T (p.Arg704Ter) c.1861A>T (p.Arg621Ter) n.2063-185A>T c.2092A>T (p.Arg698Ter) c.1018A>T (p.Arg340Ter) n.2090-185A>T |