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.151408505T>A | CA341956707 | POGZ | c.2186A>T (p.Gln729Leu) c.1979A>T (p.Gln660Leu) c.2138A>T (p.Gln713Leu) c.2159A>T (p.Gln720Leu) n.2007A>T c.1853A>T (p.Gln618Leu) c.2111A>T (p.Gln704Leu) c.2006A>T (p.Gln669Leu) n.49A>T c.338A>T (p.Gln113Leu) c.1952A>T (p.Gln651Leu) c.2030A>T (p.Gln677Leu) c.1781A>T (p.Gln594Leu) n.2062+189A>T c.2012A>T (p.Gln671Leu) c.938A>T (p.Gln313Leu) n.2089+189A>T | |
| 1 | g.151408505T>C | CA341956710 | POGZ | c.2186A>G (p.Gln729Arg) c.1979A>G (p.Gln660Arg) c.2138A>G (p.Gln713Arg) c.2159A>G (p.Gln720Arg) n.2007A>G c.1853A>G (p.Gln618Arg) c.2111A>G (p.Gln704Arg) c.2006A>G (p.Gln669Arg) n.49A>G c.338A>G (p.Gln113Arg) c.1952A>G (p.Gln651Arg) c.2030A>G (p.Gln677Arg) c.1781A>G (p.Gln594Arg) n.2062+189A>G c.2012A>G (p.Gln671Arg) c.938A>G (p.Gln313Arg) n.2089+189A>G | COSMIC COSMIC |
| 1 | g.151408505T>G | CA341956712 | POGZ | c.2186A>C (p.Gln729Pro) c.1979A>C (p.Gln660Pro) c.2138A>C (p.Gln713Pro) c.2159A>C (p.Gln720Pro) n.2007A>C c.1853A>C (p.Gln618Pro) c.2111A>C (p.Gln704Pro) c.2006A>C (p.Gln669Pro) n.49A>C c.338A>C (p.Gln113Pro) c.1952A>C (p.Gln651Pro) c.2030A>C (p.Gln677Pro) c.1781A>C (p.Gln594Pro) n.2062+189A>C c.2012A>C (p.Gln671Pro) c.938A>C (p.Gln313Pro) n.2089+189A>C | |
| 1 | g.151408506G>A | CA341956717 | POGZ | c.2185C>T (p.Gln729Ter) c.1978C>T (p.Gln660Ter) c.2137C>T (p.Gln713Ter) c.2158C>T (p.Gln720Ter) n.2006C>T c.1852C>T (p.Gln618Ter) c.2110C>T (p.Gln704Ter) c.2005C>T (p.Gln669Ter) n.48C>T c.337C>T (p.Gln113Ter) c.1951C>T (p.Gln651Ter) c.2029C>T (p.Gln677Ter) c.1780C>T (p.Gln594Ter) n.2062+188C>T c.2011C>T (p.Gln671Ter) c.937C>T (p.Gln313Ter) n.2089+188C>T | |
| 1 | g.151408506G>C | CA341956719 | POGZ | c.2185C>G (p.Gln729Glu) c.1978C>G (p.Gln660Glu) c.2137C>G (p.Gln713Glu) c.2158C>G (p.Gln720Glu) n.2006C>G c.1852C>G (p.Gln618Glu) c.2110C>G (p.Gln704Glu) c.2005C>G (p.Gln669Glu) n.48C>G c.337C>G (p.Gln113Glu) c.1951C>G (p.Gln651Glu) c.2029C>G (p.Gln677Glu) c.1780C>G (p.Gln594Glu) n.2062+188C>G c.2011C>G (p.Gln671Glu) c.937C>G (p.Gln313Glu) n.2089+188C>G | dbSNP gnomAD v4 |
| 1 | g.151408506G= | CA2479571514 | POGZ | c.2185C= (p.Gln729=) c.1978C= (p.Gln660=) c.2137C= (p.Gln713=) c.2158C= (p.Gln720=) n.2006C= c.1852C= (p.Gln618=) c.2110C= (p.Gln704=) c.2005C= (p.Gln669=) n.48C= c.337C= (p.Gln113=) c.1951C= (p.Gln651=) c.2029C= (p.Gln677=) c.1780C= (p.Gln594=) n.2062+188C= c.2011C= (p.Gln671=) c.937C= (p.Gln313=) n.2089+188C= | |
| 1 | g.151408506G>T | CA341956728 | POGZ | c.2185C>A (p.Gln729Lys) c.1978C>A (p.Gln660Lys) c.2137C>A (p.Gln713Lys) c.2158C>A (p.Gln720Lys) n.2006C>A c.1852C>A (p.Gln618Lys) c.2110C>A (p.Gln704Lys) c.2005C>A (p.Gln669Lys) n.48C>A c.337C>A (p.Gln113Lys) c.1951C>A (p.Gln651Lys) c.2029C>A (p.Gln677Lys) c.1780C>A (p.Gln594Lys) n.2062+188C>A c.2011C>A (p.Gln671Lys) c.937C>A (p.Gln313Lys) n.2089+188C>A | |
| 1 | g.151408507C>A | CA341956730 | POGZ | c.2184G>T (p.Leu728Phe) c.1977G>T (p.Leu659Phe) c.2136G>T (p.Leu712Phe) c.2157G>T (p.Leu719Phe) n.2005G>T c.1851G>T (p.Leu617Phe) c.2109G>T (p.Leu703Phe) c.2004G>T (p.Leu668Phe) n.47G>T c.336G>T (p.Leu112Phe) c.1950G>T (p.Leu650Phe) c.2028G>T (p.Leu676Phe) c.1779G>T (p.Leu593Phe) n.2062+187G>T c.2010G>T (p.Leu670Phe) c.936G>T (p.Leu312Phe) n.2089+187G>T | COSMIC COSMIC |
| 1 | g.151408507C>G | CA341956729 | POGZ | c.2184G>C (p.Leu728Phe) c.1977G>C (p.Leu659Phe) c.2136G>C (p.Leu712Phe) c.2157G>C (p.Leu719Phe) n.2005G>C c.1851G>C (p.Leu617Phe) c.2109G>C (p.Leu703Phe) c.2004G>C (p.Leu668Phe) n.47G>C c.336G>C (p.Leu112Phe) c.1950G>C (p.Leu650Phe) c.2028G>C (p.Leu676Phe) c.1779G>C (p.Leu593Phe) n.2062+187G>C c.2010G>C (p.Leu670Phe) c.936G>C (p.Leu312Phe) n.2089+187G>C | |
| 1 | g.151408507C>T | CA420910249 | POGZ | c.2184G>A (p.Leu728=) c.1977G>A (p.Leu659=) c.2136G>A (p.Leu712=) c.2157G>A (p.Leu719=) n.2005G>A c.1851G>A (p.Leu617=) c.2109G>A (p.Leu703=) c.2004G>A (p.Leu668=) n.47G>A c.336G>A (p.Leu112=) c.1950G>A (p.Leu650=) c.2028G>A (p.Leu676=) c.1779G>A (p.Leu593=) n.2062+187G>A c.2010G>A (p.Leu670=) c.936G>A (p.Leu312=) n.2089+187G>A | gnomAD v4 |
| 1 | g.151408508A>C | CA341956732 | POGZ | c.2183T>G (p.Leu728Trp) c.1976T>G (p.Leu659Trp) c.2135T>G (p.Leu712Trp) c.2156T>G (p.Leu719Trp) n.2004T>G c.1850T>G (p.Leu617Trp) c.2108T>G (p.Leu703Trp) c.2003T>G (p.Leu668Trp) n.46T>G c.335T>G (p.Leu112Trp) c.1949T>G (p.Leu650Trp) c.2027T>G (p.Leu676Trp) c.1778T>G (p.Leu593Trp) n.2062+186T>G c.2009T>G (p.Leu670Trp) c.935T>G (p.Leu312Trp) n.2089+186T>G | |
| 1 | g.151408508A>G | CA341956738 | POGZ | c.2183T>C (p.Leu728Ser) c.1976T>C (p.Leu659Ser) c.2135T>C (p.Leu712Ser) c.2156T>C (p.Leu719Ser) n.2004T>C c.1850T>C (p.Leu617Ser) c.2108T>C (p.Leu703Ser) c.2003T>C (p.Leu668Ser) n.46T>C c.335T>C (p.Leu112Ser) c.1949T>C (p.Leu650Ser) c.2027T>C (p.Leu676Ser) c.1778T>C (p.Leu593Ser) n.2062+186T>C c.2009T>C (p.Leu670Ser) c.935T>C (p.Leu312Ser) n.2089+186T>C | |
| 1 | g.151408508A>T | CA341956735 | POGZ | c.2183T>A (p.Leu728Ter) c.1976T>A (p.Leu659Ter) c.2135T>A (p.Leu712Ter) c.2156T>A (p.Leu719Ter) n.2004T>A c.1850T>A (p.Leu617Ter) c.2108T>A (p.Leu703Ter) c.2003T>A (p.Leu668Ter) n.46T>A c.335T>A (p.Leu112Ter) c.1949T>A (p.Leu650Ter) c.2027T>A (p.Leu676Ter) c.1778T>A (p.Leu593Ter) n.2062+186T>A c.2009T>A (p.Leu670Ter) c.935T>A (p.Leu312Ter) n.2089+186T>A | |
| 1 | g.151408509A>C | CA341956745 | POGZ | c.2182T>G (p.Leu728Val) c.1975T>G (p.Leu659Val) c.2134T>G (p.Leu712Val) c.2155T>G (p.Leu719Val) n.2003T>G c.1849T>G (p.Leu617Val) c.2107T>G (p.Leu703Val) c.2002T>G (p.Leu668Val) n.45T>G c.334T>G (p.Leu112Val) c.1948T>G (p.Leu650Val) c.2026T>G (p.Leu676Val) c.1777T>G (p.Leu593Val) n.2062+185T>G c.2008T>G (p.Leu670Val) c.934T>G (p.Leu312Val) n.2089+185T>G | |
| 1 | g.151408509A>G | CA420910255 | POGZ | c.2182T>C (p.Leu728=) c.1975T>C (p.Leu659=) c.2134T>C (p.Leu712=) c.2155T>C (p.Leu719=) n.2003T>C c.1849T>C (p.Leu617=) c.2107T>C (p.Leu703=) c.2002T>C (p.Leu668=) n.45T>C c.334T>C (p.Leu112=) c.1948T>C (p.Leu650=) c.2026T>C (p.Leu676=) c.1777T>C (p.Leu593=) n.2062+185T>C c.2008T>C (p.Leu670=) c.934T>C (p.Leu312=) n.2089+185T>C | |
| 1 | g.151408509A>T | CA341956747 | POGZ | c.2182T>A (p.Leu728Met) c.1975T>A (p.Leu659Met) c.2134T>A (p.Leu712Met) c.2155T>A (p.Leu719Met) n.2003T>A c.1849T>A (p.Leu617Met) c.2107T>A (p.Leu703Met) c.2002T>A (p.Leu668Met) n.45T>A c.334T>A (p.Leu112Met) c.1948T>A (p.Leu650Met) c.2026T>A (p.Leu676Met) c.1777T>A (p.Leu593Met) n.2062+185T>A c.2008T>A (p.Leu670Met) c.934T>A (p.Leu312Met) n.2089+185T>A | |
| 1 | g.151408510G>A | CA420910257 | POGZ | c.2181C>T (p.Ala727=) c.1974C>T (p.Ala658=) c.2133C>T (p.Ala711=) c.2154C>T (p.Ala718=) n.2002C>T c.1848C>T (p.Ala616=) c.2106C>T (p.Ala702=) c.2001C>T (p.Ala667=) n.44C>T c.333C>T (p.Ala111=) c.1947C>T (p.Ala649=) c.2025C>T (p.Ala675=) c.1776C>T (p.Ala592=) n.2062+184C>T c.2007C>T (p.Ala669=) c.933C>T (p.Ala311=) n.2089+184C>T | gnomAD v4 |
| 1 | g.151408510G>C | CA1091257 | POGZ | c.2181C>G (p.Ala727=) c.1974C>G (p.Ala658=) c.2133C>G (p.Ala711=) c.2154C>G (p.Ala718=) n.2002C>G c.1848C>G (p.Ala616=) c.2106C>G (p.Ala702=) c.2001C>G (p.Ala667=) n.44C>G c.333C>G (p.Ala111=) c.1947C>G (p.Ala649=) c.2025C>G (p.Ala675=) c.1776C>G (p.Ala592=) n.2062+184C>G c.2007C>G (p.Ala669=) c.933C>G (p.Ala311=) n.2089+184C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.151408510G= | CA2479571515 | POGZ | c.2181C= (p.Ala727=) c.1974C= (p.Ala658=) c.2133C= (p.Ala711=) c.2154C= (p.Ala718=) n.2002C= c.1848C= (p.Ala616=) c.2106C= (p.Ala702=) c.2001C= (p.Ala667=) n.44C= c.333C= (p.Ala111=) c.1947C= (p.Ala649=) c.2025C= (p.Ala675=) c.1776C= (p.Ala592=) n.2062+184C= c.2007C= (p.Ala669=) c.933C= (p.Ala311=) n.2089+184C= | |
| 1 | g.151408510G>T | CA420910259 | POGZ | c.2181C>A (p.Ala727=) c.1974C>A (p.Ala658=) c.2133C>A (p.Ala711=) c.2154C>A (p.Ala718=) n.2002C>A c.1848C>A (p.Ala616=) c.2106C>A (p.Ala702=) c.2001C>A (p.Ala667=) n.44C>A c.333C>A (p.Ala111=) c.1947C>A (p.Ala649=) c.2025C>A (p.Ala675=) c.1776C>A (p.Ala592=) n.2062+184C>A c.2007C>A (p.Ala669=) c.933C>A (p.Ala311=) n.2089+184C>A | |
| 1 | g.151408511_151408513del | CA2521637361 | POGZ | c.2179_2181del (p.Ala727del) c.1972_1974del (p.Ala658del) c.2131_2133del (p.Ala711del) c.2152_2154del (p.Ala718del) n.2000_2002del c.1846_1848del (p.Ala616del) c.2104_2106del (p.Ala702del) c.1999_2001del (p.Ala667del) n.42_44del c.331_333del (p.Ala111del) c.1945_1947del (p.Ala649del) c.2023_2025del (p.Ala675del) c.1774_1776del (p.Ala592del) n.2062+182_2062+184del c.2005_2007del (p.Ala669del) c.931_933del (p.Ala311del) n.2089+182_2089+184del | |
| 1 | g.151408511G>A | CA341956749 | POGZ | c.2180C>T (p.Ala727Val) c.1973C>T (p.Ala658Val) c.2132C>T (p.Ala711Val) c.2153C>T (p.Ala718Val) n.2001C>T c.1847C>T (p.Ala616Val) c.2105C>T (p.Ala702Val) c.2000C>T (p.Ala667Val) n.43C>T c.332C>T (p.Ala111Val) c.1946C>T (p.Ala649Val) c.2024C>T (p.Ala675Val) c.1775C>T (p.Ala592Val) n.2062+183C>T c.2006C>T (p.Ala669Val) c.932C>T (p.Ala311Val) n.2089+183C>T | |
| 1 | g.151408511G>C | CA341956751 | POGZ | c.2180C>G (p.Ala727Gly) c.1973C>G (p.Ala658Gly) c.2132C>G (p.Ala711Gly) c.2153C>G (p.Ala718Gly) n.2001C>G c.1847C>G (p.Ala616Gly) c.2105C>G (p.Ala702Gly) c.2000C>G (p.Ala667Gly) n.43C>G c.332C>G (p.Ala111Gly) c.1946C>G (p.Ala649Gly) c.2024C>G (p.Ala675Gly) c.1775C>G (p.Ala592Gly) n.2062+183C>G c.2006C>G (p.Ala669Gly) c.932C>G (p.Ala311Gly) n.2089+183C>G | |
| 1 | g.151408511G>T | CA341956752 | POGZ | c.2180C>A (p.Ala727Asp) c.1973C>A (p.Ala658Asp) c.2132C>A (p.Ala711Asp) c.2153C>A (p.Ala718Asp) n.2001C>A c.1847C>A (p.Ala616Asp) c.2105C>A (p.Ala702Asp) c.2000C>A (p.Ala667Asp) n.43C>A c.332C>A (p.Ala111Asp) c.1946C>A (p.Ala649Asp) c.2024C>A (p.Ala675Asp) c.1775C>A (p.Ala592Asp) n.2062+183C>A c.2006C>A (p.Ala669Asp) c.932C>A (p.Ala311Asp) n.2089+183C>A | |
| 1 | g.151408512C>A | CA341956755 | POGZ | c.2179G>T (p.Ala727Ser) c.1972G>T (p.Ala658Ser) c.2131G>T (p.Ala711Ser) c.2152G>T (p.Ala718Ser) n.2000G>T c.1846G>T (p.Ala616Ser) c.2104G>T (p.Ala702Ser) c.1999G>T (p.Ala667Ser) n.42G>T c.331G>T (p.Ala111Ser) c.1945G>T (p.Ala649Ser) c.2023G>T (p.Ala675Ser) c.1774G>T (p.Ala592Ser) n.2062+182G>T c.2005G>T (p.Ala669Ser) c.931G>T (p.Ala311Ser) n.2089+182G>T | |
| 1 | g.151408512C= | CA1143825691 | POGZ | c.2179G= (p.Ala727=) c.1972G= (p.Ala658=) c.2131G= (p.Ala711=) c.2152G= (p.Ala718=) n.2000G= c.1846G= (p.Ala616=) c.2104G= (p.Ala702=) c.1999G= (p.Ala667=) n.42G= c.331G= (p.Ala111=) c.1945G= (p.Ala649=) c.2023G= (p.Ala675=) c.1774G= (p.Ala592=) n.2062+182G= c.2005G= (p.Ala669=) c.931G= (p.Ala311=) n.2089+182G= | |
| 1 | g.151408512C>G | CA341956757 | POGZ | c.2179G>C (p.Ala727Pro) c.1972G>C (p.Ala658Pro) c.2131G>C (p.Ala711Pro) c.2152G>C (p.Ala718Pro) n.2000G>C c.1846G>C (p.Ala616Pro) c.2104G>C (p.Ala702Pro) c.1999G>C (p.Ala667Pro) n.42G>C c.331G>C (p.Ala111Pro) c.1945G>C (p.Ala649Pro) c.2023G>C (p.Ala675Pro) c.1774G>C (p.Ala592Pro) n.2062+182G>C c.2005G>C (p.Ala669Pro) c.931G>C (p.Ala311Pro) n.2089+182G>C | |
| 1 | g.151408512C>T | CA1091258 | POGZ | c.2179G>A (p.Ala727Thr) c.1972G>A (p.Ala658Thr) c.2131G>A (p.Ala711Thr) c.2152G>A (p.Ala718Thr) n.2000G>A c.1846G>A (p.Ala616Thr) c.2104G>A (p.Ala702Thr) c.1999G>A (p.Ala667Thr) n.42G>A c.331G>A (p.Ala111Thr) c.1945G>A (p.Ala649Thr) c.2023G>A (p.Ala675Thr) c.1774G>A (p.Ala592Thr) n.2062+182G>A c.2005G>A (p.Ala669Thr) c.931G>A (p.Ala311Thr) n.2089+182G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.151408513G>A | CA420910265 | POGZ | c.2178C>T (p.Ser726=) c.1971C>T (p.Ser657=) c.2130C>T (p.Ser710=) c.2151C>T (p.Ser717=) n.1999C>T c.1845C>T (p.Ser615=) c.2103C>T (p.Ser701=) c.1998C>T (p.Ser666=) n.41C>T c.330C>T (p.Ser110=) c.1944C>T (p.Ser648=) c.2022C>T (p.Ser674=) c.1773C>T (p.Ser591=) n.2062+181C>T c.2004C>T (p.Ser668=) c.930C>T (p.Ser310=) n.2089+181C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.151408513G>C | CA341956763 | POGZ | c.2178C>G (p.Ser726Arg) c.1971C>G (p.Ser657Arg) c.2130C>G (p.Ser710Arg) c.2151C>G (p.Ser717Arg) n.1999C>G c.1845C>G (p.Ser615Arg) c.2103C>G (p.Ser701Arg) c.1998C>G (p.Ser666Arg) n.41C>G c.330C>G (p.Ser110Arg) c.1944C>G (p.Ser648Arg) c.2022C>G (p.Ser674Arg) c.1773C>G (p.Ser591Arg) n.2062+181C>G c.2004C>G (p.Ser668Arg) c.930C>G (p.Ser310Arg) n.2089+181C>G | |
| 1 | g.151408513G= | CA2479571516 | POGZ | c.2178C= (p.Ser726=) c.1971C= (p.Ser657=) c.2130C= (p.Ser710=) c.2151C= (p.Ser717=) n.1999C= c.1845C= (p.Ser615=) c.2103C= (p.Ser701=) c.1998C= (p.Ser666=) n.41C= c.330C= (p.Ser110=) c.1944C= (p.Ser648=) c.2022C= (p.Ser674=) c.1773C= (p.Ser591=) n.2062+181C= c.2004C= (p.Ser668=) c.930C= (p.Ser310=) n.2089+181C= | |
| 1 | g.151408513G>T | CA341956765 | POGZ | c.2178C>A (p.Ser726Arg) c.1971C>A (p.Ser657Arg) c.2130C>A (p.Ser710Arg) c.2151C>A (p.Ser717Arg) n.1999C>A c.1845C>A (p.Ser615Arg) c.2103C>A (p.Ser701Arg) c.1998C>A (p.Ser666Arg) n.41C>A c.330C>A (p.Ser110Arg) c.1944C>A (p.Ser648Arg) c.2022C>A (p.Ser674Arg) c.1773C>A (p.Ser591Arg) n.2062+181C>A c.2004C>A (p.Ser668Arg) c.930C>A (p.Ser310Arg) n.2089+181C>A | |
| 1 | g.151408514C>A | CA341956771 | POGZ | c.2177G>T (p.Ser726Ile) c.1970G>T (p.Ser657Ile) c.2129G>T (p.Ser710Ile) c.2150G>T (p.Ser717Ile) n.1998G>T c.1844G>T (p.Ser615Ile) c.2102G>T (p.Ser701Ile) c.1997G>T (p.Ser666Ile) n.40G>T c.329G>T (p.Ser110Ile) c.1943G>T (p.Ser648Ile) c.2021G>T (p.Ser674Ile) c.1772G>T (p.Ser591Ile) n.2062+180G>T c.2003G>T (p.Ser668Ile) c.929G>T (p.Ser310Ile) n.2089+180G>T | |
| 1 | g.151408514C= | CA2479571517 | POGZ | c.2177G= (p.Ser726=) c.1970G= (p.Ser657=) c.2129G= (p.Ser710=) c.2150G= (p.Ser717=) n.1998G= c.1844G= (p.Ser615=) c.2102G= (p.Ser701=) c.1997G= (p.Ser666=) n.40G= c.329G= (p.Ser110=) c.1943G= (p.Ser648=) c.2021G= (p.Ser674=) c.1772G= (p.Ser591=) n.2062+180G= c.2003G= (p.Ser668=) c.929G= (p.Ser310=) n.2089+180G= | |
| 1 | g.151408514C>G | CA341956769 | POGZ | c.2177G>C (p.Ser726Thr) c.1970G>C (p.Ser657Thr) c.2129G>C (p.Ser710Thr) c.2150G>C (p.Ser717Thr) n.1998G>C c.1844G>C (p.Ser615Thr) c.2102G>C (p.Ser701Thr) c.1997G>C (p.Ser666Thr) n.40G>C c.329G>C (p.Ser110Thr) c.1943G>C (p.Ser648Thr) c.2021G>C (p.Ser674Thr) c.1772G>C (p.Ser591Thr) n.2062+180G>C c.2003G>C (p.Ser668Thr) c.929G>C (p.Ser310Thr) n.2089+180G>C | |
| 1 | g.151408514C>T | CA29571163 | POGZ | c.2177G>A (p.Ser726Asn) c.1970G>A (p.Ser657Asn) c.2129G>A (p.Ser710Asn) c.2150G>A (p.Ser717Asn) n.1998G>A c.1844G>A (p.Ser615Asn) c.2102G>A (p.Ser701Asn) c.1997G>A (p.Ser666Asn) n.40G>A c.329G>A (p.Ser110Asn) c.1943G>A (p.Ser648Asn) c.2021G>A (p.Ser674Asn) c.1772G>A (p.Ser591Asn) n.2062+180G>A c.2003G>A (p.Ser668Asn) c.929G>A (p.Ser310Asn) n.2089+180G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.151408515T>A | CA341956772 | POGZ | c.2176A>T (p.Ser726Cys) c.1969A>T (p.Ser657Cys) c.2128A>T (p.Ser710Cys) c.2149A>T (p.Ser717Cys) n.1997A>T c.1843A>T (p.Ser615Cys) c.2101A>T (p.Ser701Cys) c.1996A>T (p.Ser666Cys) n.39A>T c.328A>T (p.Ser110Cys) c.1942A>T (p.Ser648Cys) c.2020A>T (p.Ser674Cys) c.1771A>T (p.Ser591Cys) n.2062+179A>T c.2002A>T (p.Ser668Cys) c.928A>T (p.Ser310Cys) n.2089+179A>T | dbSNP |
| 1 | g.151408515T>C | CA341956773 | POGZ | c.2176A>G (p.Ser726Gly) c.1969A>G (p.Ser657Gly) c.2128A>G (p.Ser710Gly) c.2149A>G (p.Ser717Gly) n.1997A>G c.1843A>G (p.Ser615Gly) c.2101A>G (p.Ser701Gly) c.1996A>G (p.Ser666Gly) n.39A>G c.328A>G (p.Ser110Gly) c.1942A>G (p.Ser648Gly) c.2020A>G (p.Ser674Gly) c.1771A>G (p.Ser591Gly) n.2062+179A>G c.2002A>G (p.Ser668Gly) c.928A>G (p.Ser310Gly) n.2089+179A>G | |
| 1 | g.151408515T>G | CA341956774 | POGZ | c.2176A>C (p.Ser726Arg) c.1969A>C (p.Ser657Arg) c.2128A>C (p.Ser710Arg) c.2149A>C (p.Ser717Arg) n.1997A>C c.1843A>C (p.Ser615Arg) c.2101A>C (p.Ser701Arg) c.1996A>C (p.Ser666Arg) n.39A>C c.328A>C (p.Ser110Arg) c.1942A>C (p.Ser648Arg) c.2020A>C (p.Ser674Arg) c.1771A>C (p.Ser591Arg) n.2062+179A>C c.2002A>C (p.Ser668Arg) c.928A>C (p.Ser310Arg) n.2089+179A>C | |
| 1 | g.151408516G>A | CA420910279 | POGZ | c.2175C>T (p.Pro725=) c.1968C>T (p.Pro656=) c.2127C>T (p.Pro709=) c.2148C>T (p.Pro716=) n.1996C>T c.1842C>T (p.Pro614=) c.2100C>T (p.Pro700=) c.1995C>T (p.Pro665=) n.38C>T c.327C>T (p.Pro109=) c.1941C>T (p.Pro647=) c.2019C>T (p.Pro673=) c.1770C>T (p.Pro590=) n.2062+178C>T c.2001C>T (p.Pro667=) c.927C>T (p.Pro309=) n.2089+178C>T | |
| 1 | g.151408516G>C | CA420910281 | POGZ | c.2175C>G (p.Pro725=) c.1968C>G (p.Pro656=) c.2127C>G (p.Pro709=) c.2148C>G (p.Pro716=) n.1996C>G c.1842C>G (p.Pro614=) c.2100C>G (p.Pro700=) c.1995C>G (p.Pro665=) n.38C>G c.327C>G (p.Pro109=) c.1941C>G (p.Pro647=) c.2019C>G (p.Pro673=) c.1770C>G (p.Pro590=) n.2062+178C>G c.2001C>G (p.Pro667=) c.927C>G (p.Pro309=) n.2089+178C>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.151408516G= | CA2479571518 | POGZ | c.2175C= (p.Pro725=) c.1968C= (p.Pro656=) c.2127C= (p.Pro709=) c.2148C= (p.Pro716=) n.1996C= c.1842C= (p.Pro614=) c.2100C= (p.Pro700=) c.1995C= (p.Pro665=) n.38C= c.327C= (p.Pro109=) c.1941C= (p.Pro647=) c.2019C= (p.Pro673=) c.1770C= (p.Pro590=) n.2062+178C= c.2001C= (p.Pro667=) c.927C= (p.Pro309=) n.2089+178C= | |
| 1 | g.151408516G>T | CA420910277 | POGZ | c.2175C>A (p.Pro725=) c.1968C>A (p.Pro656=) c.2127C>A (p.Pro709=) c.2148C>A (p.Pro716=) n.1996C>A c.1842C>A (p.Pro614=) c.2100C>A (p.Pro700=) c.1995C>A (p.Pro665=) n.38C>A c.327C>A (p.Pro109=) c.1941C>A (p.Pro647=) c.2019C>A (p.Pro673=) c.1770C>A (p.Pro590=) n.2062+178C>A c.2001C>A (p.Pro667=) c.927C>A (p.Pro309=) n.2089+178C>A | |
| 1 | g.151408516_151408517insCCA | CA2511308745 | POGZ | c.2174_2175insTGG (p.Pro725_Ser726insGly) c.1967_1968insTGG (p.Pro656_Ser657insGly) c.2126_2127insTGG (p.Pro709_Ser710insGly) c.2147_2148insTGG (p.Pro716_Ser717insGly) n.1995_1996insTGG c.1841_1842insTGG (p.Pro614_Ser615insGly) c.2099_2100insTGG (p.Pro700_Ser701insGly) c.1994_1995insTGG (p.Pro665_Ser666insGly) n.37_38insTGG c.326_327insTGG (p.Pro109_Ser110insGly) c.1940_1941insTGG (p.Pro647_Ser648insGly) c.2018_2019insTGG (p.Pro673_Ser674insGly) c.1769_1770insTGG (p.Pro590_Ser591insGly) n.2062+177_2062+178insTGG c.2000_2001insTGG (p.Pro667_Ser668insGly) c.926_927insTGG (p.Pro309_Ser310insGly) n.2089+177_2089+178insTGG | |
| 1 | g.151408517G>A | CA341956777 | POGZ | c.2174C>T (p.Pro725Leu) c.1967C>T (p.Pro656Leu) c.2126C>T (p.Pro709Leu) c.2147C>T (p.Pro716Leu) n.1995C>T c.1841C>T (p.Pro614Leu) c.2099C>T (p.Pro700Leu) c.1994C>T (p.Pro665Leu) n.37C>T c.326C>T (p.Pro109Leu) c.1940C>T (p.Pro647Leu) c.2018C>T (p.Pro673Leu) c.1769C>T (p.Pro590Leu) n.2062+177C>T c.2000C>T (p.Pro667Leu) c.926C>T (p.Pro309Leu) n.2089+177C>T | |
| 1 | g.151408517G>C | CA341956779 | POGZ | c.2174C>G (p.Pro725Arg) c.1967C>G (p.Pro656Arg) c.2126C>G (p.Pro709Arg) c.2147C>G (p.Pro716Arg) n.1995C>G c.1841C>G (p.Pro614Arg) c.2099C>G (p.Pro700Arg) c.1994C>G (p.Pro665Arg) n.37C>G c.326C>G (p.Pro109Arg) c.1940C>G (p.Pro647Arg) c.2018C>G (p.Pro673Arg) c.1769C>G (p.Pro590Arg) n.2062+177C>G c.2000C>G (p.Pro667Arg) c.926C>G (p.Pro309Arg) n.2089+177C>G | |
| 1 | g.151408517G>T | CA341956795 | POGZ | c.2174C>A (p.Pro725His) c.1967C>A (p.Pro656His) c.2126C>A (p.Pro709His) c.2147C>A (p.Pro716His) n.1995C>A c.1841C>A (p.Pro614His) c.2099C>A (p.Pro700His) c.1994C>A (p.Pro665His) n.37C>A c.326C>A (p.Pro109His) c.1940C>A (p.Pro647His) c.2018C>A (p.Pro673His) c.1769C>A (p.Pro590His) n.2062+177C>A c.2000C>A (p.Pro667His) c.926C>A (p.Pro309His) n.2089+177C>A | |
| 1 | g.151408518G>A | CA341956802 | POGZ | c.2173C>T (p.Pro725Ser) c.1966C>T (p.Pro656Ser) c.2125C>T (p.Pro709Ser) c.2146C>T (p.Pro716Ser) n.1994C>T c.1840C>T (p.Pro614Ser) c.2098C>T (p.Pro700Ser) c.1993C>T (p.Pro665Ser) n.36C>T c.325C>T (p.Pro109Ser) c.1939C>T (p.Pro647Ser) c.2017C>T (p.Pro673Ser) c.1768C>T (p.Pro590Ser) n.2062+176C>T c.1999C>T (p.Pro667Ser) c.925C>T (p.Pro309Ser) n.2089+176C>T | COSMIC COSMIC |
| 1 | g.151408518G>C | CA341956804 | POGZ | c.2173C>G (p.Pro725Ala) c.1966C>G (p.Pro656Ala) c.2125C>G (p.Pro709Ala) c.2146C>G (p.Pro716Ala) n.1994C>G c.1840C>G (p.Pro614Ala) c.2098C>G (p.Pro700Ala) c.1993C>G (p.Pro665Ala) n.36C>G c.325C>G (p.Pro109Ala) c.1939C>G (p.Pro647Ala) c.2017C>G (p.Pro673Ala) c.1768C>G (p.Pro590Ala) n.2062+176C>G c.1999C>G (p.Pro667Ala) c.925C>G (p.Pro309Ala) n.2089+176C>G | |
| 1 | g.151408518G>T | CA341956806 | POGZ | c.2173C>A (p.Pro725Thr) c.1966C>A (p.Pro656Thr) c.2125C>A (p.Pro709Thr) c.2146C>A (p.Pro716Thr) n.1994C>A c.1840C>A (p.Pro614Thr) c.2098C>A (p.Pro700Thr) c.1993C>A (p.Pro665Thr) n.36C>A c.325C>A (p.Pro109Thr) c.1939C>A (p.Pro647Thr) c.2017C>A (p.Pro673Thr) c.1768C>A (p.Pro590Thr) n.2062+176C>A c.1999C>A (p.Pro667Thr) c.925C>A (p.Pro309Thr) n.2089+176C>A |