Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.161674017_161674037dup | CA1008429688 | FCGR2B | c.704_724dup (p.Val241_Val242insAlaAlaIleValAlaAlaVal) c.683_703dup (p.Val234_Val235insAlaAlaIleValAlaAlaVal) n.754_774dup n.2072_2092dup c.701_721dup (p.Val240_Val241insAlaAlaIleValAlaAlaVal) c.680_700dup (p.Val233_Val234insAlaAlaIleValAlaAlaVal) n.933_953dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.161674020C>A | CA343367794 | FCGR2B | c.707C>A (p.Ala236Asp) c.686C>A (p.Ala229Asp) n.757C>A n.2075C>A c.704C>A (p.Ala235Asp) c.683C>A (p.Ala228Asp) n.936C>A | |
1 | g.161674020C>G | CA343367785 | FCGR2B | c.707C>G (p.Ala236Gly) c.686C>G (p.Ala229Gly) n.757C>G n.2075C>G c.704C>G (p.Ala235Gly) c.683C>G (p.Ala228Gly) n.936C>G | |
1 | g.161674020C>T | CA343367792 | FCGR2B | c.707C>T (p.Ala236Val) c.686C>T (p.Ala229Val) n.757C>T n.2075C>T c.704C>T (p.Ala235Val) c.683C>T (p.Ala228Val) n.936C>T | gnomAD v3 gnomAD v4 |
1 | g.161674021C>A | CA421420560 | FCGR2B | c.708C>A (p.Ala236=) c.687C>A (p.Ala229=) n.758C>A n.2076C>A c.705C>A (p.Ala235=) c.684C>A (p.Ala228=) n.937C>A | gnomAD v4 |
1 | g.161674021C>G | CA421420557 | FCGR2B | c.708C>G (p.Ala236=) c.687C>G (p.Ala229=) n.758C>G n.2076C>G c.705C>G (p.Ala235=) c.684C>G (p.Ala228=) n.937C>G | |
1 | g.161674021C>T | CA421420559 | FCGR2B | c.708C>T (p.Ala236=) c.687C>T (p.Ala229=) n.758C>T n.2076C>T c.705C>T (p.Ala235=) c.684C>T (p.Ala228=) n.937C>T | |
1 | g.161674022A>C | CA343367798 | FCGR2B | c.709A>C (p.Ile237Leu) c.688A>C (p.Ile230Leu) n.759A>C n.2077A>C c.706A>C (p.Ile236Leu) c.685A>C (p.Ile229Leu) n.938A>C | |
1 | g.161674022A>G | CA343367803 | FCGR2B | c.709A>G (p.Ile237Val) c.688A>G (p.Ile230Val) n.759A>G n.2077A>G c.706A>G (p.Ile236Val) c.685A>G (p.Ile229Val) n.938A>G | |
1 | g.161674022A>T | CA343367801 | FCGR2B | c.709A>T (p.Ile237Phe) c.688A>T (p.Ile230Phe) n.759A>T n.2077A>T c.706A>T (p.Ile236Phe) c.685A>T (p.Ile229Phe) n.938A>T | |
1 | g.161674022_161674025delinsATTG | CA1202839764 | FCGR2B | c.709_712delinsATTG (p.Ile237=) c.688_691delinsATTG (p.Ile230=) n.759_762delinsATTG n.2077_2080delinsATTG c.706_709delinsATTG (p.Ile236=) c.685_688delinsATTG (p.Ile229=) n.938_941delinsATTG | |
1 | g.161674023T>A | CA343367809 | FCGR2B | c.710T>A (p.Ile237Asn) c.689T>A (p.Ile230Asn) n.760T>A n.2078T>A c.707T>A (p.Ile236Asn) c.686T>A (p.Ile229Asn) n.939T>A | |
1 | g.161674023T>C | CA343367812 | FCGR2B | c.710T>C (p.Ile237Thr) c.689T>C (p.Ile230Thr) n.760T>C n.2078T>C c.707T>C (p.Ile236Thr) c.686T>C (p.Ile229Thr) n.939T>C | |
1 | g.161674023T>G | CA343367813 | FCGR2B | c.710T>G (p.Ile237Ser) c.689T>G (p.Ile230Ser) n.760T>G n.2078T>G c.707T>G (p.Ile236Ser) c.686T>G (p.Ile229Ser) n.939T>G | |
1 | g.161674026_161674028del | CA1202839765 | FCGR2B | c.713_715del (p.Val238del) c.692_694del (p.Val231del) n.763_765del n.2081_2083del c.710_712del (p.Val237del) c.689_691del (p.Val230del) n.942_944del | dbSNP |
1 | g.161674024T>A | CA421420572 | FCGR2B | c.711T>A (p.Ile237=) c.690T>A (p.Ile230=) n.761T>A n.2079T>A c.708T>A (p.Ile236=) c.687T>A (p.Ile229=) n.940T>A | |
1 | g.161674024T>C | CA421420574 | FCGR2B | c.711T>C (p.Ile237=) c.690T>C (p.Ile230=) n.761T>C n.2079T>C c.708T>C (p.Ile236=) c.687T>C (p.Ile229=) n.940T>C | |
1 | g.161674024T>G | CA343367814 | FCGR2B | c.711T>G (p.Ile237Met) c.690T>G (p.Ile230Met) n.761T>G n.2079T>G c.708T>G (p.Ile236Met) c.687T>G (p.Ile229Met) n.940T>G | |
1 | g.161674025G>A | CA343367817 | FCGR2B | c.712G>A (p.Val238Ile) c.691G>A (p.Val231Ile) n.762G>A n.2080G>A c.709G>A (p.Val237Ile) c.688G>A (p.Val230Ile) n.941G>A | gnomAD v4 |
1 | g.161674025G>C | CA343367819 | FCGR2B | c.712G>C (p.Val238Leu) c.691G>C (p.Val231Leu) n.762G>C n.2080G>C c.709G>C (p.Val237Leu) c.688G>C (p.Val230Leu) n.941G>C | |
1 | g.161674025G= | CA1202839766 | FCGR2B | c.712G= (p.Val238=) c.691G= (p.Val231=) n.762G= n.2080G= c.709G= (p.Val237=) c.688G= (p.Val230=) n.941G= | |
1 | g.161674025G>T | CA343367827 | FCGR2B | c.712G>T (p.Val238Phe) c.691G>T (p.Val231Phe) n.762G>T n.2080G>T c.709G>T (p.Val237Phe) c.688G>T (p.Val230Phe) n.941G>T | |
1 | g.161674026T>A | CA343367834 | FCGR2B | c.713T>A (p.Val238Asp) c.692T>A (p.Val231Asp) n.763T>A n.2081T>A c.710T>A (p.Val237Asp) c.689T>A (p.Val230Asp) n.942T>A | |
1 | g.161674026T>C | CA343367837 | FCGR2B | c.713T>C (p.Val238Ala) c.692T>C (p.Val231Ala) n.763T>C n.2081T>C c.710T>C (p.Val237Ala) c.689T>C (p.Val230Ala) n.942T>C | |
1 | g.161674026T>G | CA343367841 | FCGR2B | c.713T>G (p.Val238Gly) c.692T>G (p.Val231Gly) n.763T>G n.2081T>G c.710T>G (p.Val237Gly) c.689T>G (p.Val230Gly) n.942T>G | |
1 | g.161674037_161674038insCGGCCATTTTTGCTGCTGTAG | CA526888620 | FCGR2B | c.724_725insCGGCCATTTTTGCTGCTGTAG (p.Val241_Val242insAlaAlaIlePheAlaAlaVal) c.703_704insCGGCCATTTTTGCTGCTGTAG (p.Val234_Val235insAlaAlaIlePheAlaAlaVal) n.774_775insCGGCCATTTTTGCTGCTGTAG n.2092_2093insCGGCCATTTTTGCTGCTGTAG c.721_722insCGGCCATTTTTGCTGCTGTAG (p.Val240_Val241insAlaAlaIlePheAlaAlaVal) c.700_701insCGGCCATTTTTGCTGCTGTAG (p.Val233_Val234insAlaAlaIlePheAlaAlaVal) n.953_954insCGGCCATTTTTGCTGCTGTAG | dbSNP gnomAD v2 gnomAD v4 |
1 | g.161674027T>A | CA421420588 | FCGR2B | c.714T>A (p.Val238=) c.693T>A (p.Val231=) n.764T>A n.2082T>A c.711T>A (p.Val237=) c.690T>A (p.Val230=) n.943T>A | |
1 | g.161674027T>C | CA421420584 | FCGR2B | c.714T>C (p.Val238=) c.693T>C (p.Val231=) n.764T>C n.2082T>C c.711T>C (p.Val237=) c.690T>C (p.Val230=) n.943T>C | gnomAD v4 |
1 | g.161674027T>G | CA421420586 | FCGR2B | c.714T>G (p.Val238=) c.693T>G (p.Val231=) n.764T>G n.2082T>G c.711T>G (p.Val237=) c.690T>G (p.Val230=) n.943T>G | |
1 | g.161674028G>A | CA343367846 | FCGR2B | c.715G>A (p.Ala239Thr) c.694G>A (p.Ala232Thr) n.765G>A n.2083G>A c.712G>A (p.Ala238Thr) c.691G>A (p.Ala231Thr) n.944G>A | |
1 | g.161674028G>C | CA343367845 | FCGR2B | c.715G>C (p.Ala239Pro) c.694G>C (p.Ala232Pro) n.765G>C n.2083G>C c.712G>C (p.Ala238Pro) c.691G>C (p.Ala231Pro) n.944G>C | |
1 | g.161674028G>T | CA343367844 | FCGR2B | c.715G>T (p.Ala239Ser) c.694G>T (p.Ala232Ser) n.765G>T n.2083G>T c.712G>T (p.Ala238Ser) c.691G>T (p.Ala231Ser) n.944G>T | |
1 | g.161674029C>A | CA343367848 | FCGR2B | c.716C>A (p.Ala239Asp) c.695C>A (p.Ala232Asp) n.766C>A n.2084C>A c.713C>A (p.Ala238Asp) c.692C>A (p.Ala231Asp) n.945C>A | |
1 | g.161674029C>G | CA343367861 | FCGR2B | c.716C>G (p.Ala239Gly) c.695C>G (p.Ala232Gly) n.766C>G n.2084C>G c.713C>G (p.Ala238Gly) c.692C>G (p.Ala231Gly) n.945C>G | |
1 | g.161674029C>T | CA343367863 | FCGR2B | c.716C>T (p.Ala239Val) c.695C>T (p.Ala232Val) n.766C>T n.2084C>T c.713C>T (p.Ala238Val) c.692C>T (p.Ala231Val) n.945C>T | |
1 | g.161674030T>A | CA421420597 | FCGR2B | c.717T>A (p.Ala239=) c.696T>A (p.Ala232=) n.767T>A n.2085T>A c.714T>A (p.Ala238=) c.693T>A (p.Ala231=) n.946T>A | |
1 | g.161674030T>C | CA421420599 | FCGR2B | c.717T>C (p.Ala239=) c.696T>C (p.Ala232=) n.767T>C n.2085T>C c.714T>C (p.Ala238=) c.693T>C (p.Ala231=) n.946T>C | dbSNP gnomAD v4 |
1 | g.161674030T>G | CA421420600 | FCGR2B | c.717T>G (p.Ala239=) c.696T>G (p.Ala232=) n.767T>G n.2085T>G c.714T>G (p.Ala238=) c.693T>G (p.Ala231=) n.946T>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.161674030T= | CA1202839767 | FCGR2B | c.717T= (p.Ala239=) c.696T= (p.Ala232=) n.767T= n.2085T= c.714T= (p.Ala238=) c.693T= (p.Ala231=) n.946T= | |
1 | g.161674031G>A | CA343367866 | FCGR2B | c.718G>A (p.Ala240Thr) c.697G>A (p.Ala233Thr) n.768G>A n.2086G>A c.715G>A (p.Ala239Thr) c.694G>A (p.Ala232Thr) n.947G>A | dbSNP |
1 | g.161674031G>C | CA343367867 | FCGR2B | c.718G>C (p.Ala240Pro) c.697G>C (p.Ala233Pro) n.768G>C n.2086G>C c.715G>C (p.Ala239Pro) c.694G>C (p.Ala232Pro) n.947G>C | |
1 | g.161674031G= | CA1202839768 | FCGR2B | c.718G= (p.Ala240=) c.697G= (p.Ala233=) n.768G= n.2086G= c.715G= (p.Ala239=) c.694G= (p.Ala232=) n.947G= | |
1 | g.161674031G>T | CA343367868 | FCGR2B | c.718G>T (p.Ala240Ser) c.697G>T (p.Ala233Ser) n.768G>T n.2086G>T c.715G>T (p.Ala239Ser) c.694G>T (p.Ala232Ser) n.947G>T | |
1 | g.161674032C>A | CA343367873 | FCGR2B | c.719C>A (p.Ala240Asp) c.698C>A (p.Ala233Asp) n.769C>A n.2087C>A c.716C>A (p.Ala239Asp) c.695C>A (p.Ala232Asp) n.948C>A | |
1 | g.161674032C>G | CA343367877 | FCGR2B | c.719C>G (p.Ala240Gly) c.698C>G (p.Ala233Gly) n.769C>G n.2087C>G c.716C>G (p.Ala239Gly) c.695C>G (p.Ala232Gly) n.948C>G | |
1 | g.161674032C>T | CA343367878 | FCGR2B | c.719C>T (p.Ala240Val) c.698C>T (p.Ala233Val) n.769C>T n.2087C>T c.716C>T (p.Ala239Val) c.695C>T (p.Ala232Val) n.948C>T | |
1 | g.161674033T>A | CA421420610 | FCGR2B | c.720T>A (p.Ala240=) c.699T>A (p.Ala233=) n.770T>A n.2088T>A c.717T>A (p.Ala239=) c.696T>A (p.Ala232=) n.949T>A | |
1 | g.161674033T>C | CA421420611 | FCGR2B | c.720T>C (p.Ala240=) c.699T>C (p.Ala233=) n.770T>C n.2088T>C c.717T>C (p.Ala239=) c.696T>C (p.Ala232=) n.949T>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.161674033T>G | CA421420613 | FCGR2B | c.720T>G (p.Ala240=) c.699T>G (p.Ala233=) n.770T>G n.2088T>G c.717T>G (p.Ala239=) c.696T>G (p.Ala232=) n.949T>G | |
1 | g.161674033T= | CA1202839769 | FCGR2B | c.720T= (p.Ala240=) c.699T= (p.Ala233=) n.770T= n.2088T= c.717T= (p.Ala239=) c.696T= (p.Ala232=) n.949T= |