Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.161544760dup | CA527135442 | FCGR3A | c.522dup (p.Leu175AlafsTer5) c.519dup (p.Leu174AlafsTer5) c.471dup (p.Leu158AlafsTer5) c.630dup (p.Leu211AlafsTer5) c.572dup c.627dup (p.Leu210AlafsTer5) c.428-1557dup (n.428-1557dup) c.837dup (p.Leu280AlafsTer5) c.834dup (p.Leu279AlafsTer5) c.635-1557dup (n.635-1557dup) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.161544760del | CA2648790075 | FCGR3A | c.522del (p.Leu175PhefsTer12) c.519del (p.Leu174PhefsTer12) c.471del (p.Leu158PhefsTer12) c.630del (p.Leu211PhefsTer12) c.572del c.627del (p.Leu210PhefsTer12) c.428-1557del (n.428-1557del) c.837del (p.Leu280PhefsTer12) c.834del (p.Leu279PhefsTer12) c.635-1557del (n.635-1557del) | gnomAD v4 |
1 | g.161544759C>A | CA343367456 | FCGR3A | c.519G>T (p.Arg173Ser) c.516G>T (p.Arg172Ser) c.468G>T (p.Arg156Ser) c.627G>T (p.Arg209Ser) c.569G>T c.624G>T (p.Arg208Ser) c.428-1560G>T (n.428-1560G>T) c.834G>T (p.Arg278Ser) c.831G>T (p.Arg277Ser) c.635-1560G>T (n.635-1560G>T) | gnomAD v4 |
1 | g.161544759C= | CA1202785225 | FCGR3A | c.519G= (p.Arg173=) c.516G= (p.Arg172=) c.468G= (p.Arg156=) c.627G= (p.Arg209=) c.569G= c.624G= (p.Arg208=) c.428-1560G= (n.428-1560G=) c.834G= (p.Arg278=) c.831G= (p.Arg277=) c.635-1560G= (n.635-1560G=) | |
1 | g.161544759C>G | CA1211382 | FCGR3A | c.519G>C (p.Arg173Ser) c.516G>C (p.Arg172Ser) c.468G>C (p.Arg156Ser) c.627G>C (p.Arg209Ser) c.569G>C c.624G>C (p.Arg208Ser) c.428-1560G>C (n.428-1560G>C) c.834G>C (p.Arg278Ser) c.831G>C (p.Arg277Ser) c.635-1560G>C (n.635-1560G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.161544759C>T | CA1211381 | FCGR3A | c.519G>A (p.Arg173=) c.516G>A (p.Arg172=) c.468G>A (p.Arg156=) c.627G>A (p.Arg209=) c.569G>A c.624G>A (p.Arg208=) c.428-1560G>A (n.428-1560G>A) c.834G>A (p.Arg278=) c.831G>A (p.Arg277=) c.635-1560G>A (n.635-1560G>A) | dbSNP ExAC gnomAD v2 |
1 | g.161544760C>A | CA343367458 | FCGR3A | c.518G>T (p.Arg173Met) c.515G>T (p.Arg172Met) c.467G>T (p.Arg156Met) c.626G>T (p.Arg209Met) c.568G>T c.623G>T (p.Arg208Met) c.428-1561G>T (n.428-1561G>T) c.833G>T (p.Arg278Met) c.830G>T (p.Arg277Met) c.635-1561G>T (n.635-1561G>T) | |
1 | g.161544760C>G | CA343367459 | FCGR3A | c.518G>C (p.Arg173Thr) c.515G>C (p.Arg172Thr) c.467G>C (p.Arg156Thr) c.626G>C (p.Arg209Thr) c.568G>C c.623G>C (p.Arg208Thr) c.428-1561G>C (n.428-1561G>C) c.833G>C (p.Arg278Thr) c.830G>C (p.Arg277Thr) c.635-1561G>C (n.635-1561G>C) | |
1 | g.161544760C>T | CA343367460 | FCGR3A | c.518G>A (p.Arg173Lys) c.515G>A (p.Arg172Lys) c.467G>A (p.Arg156Lys) c.626G>A (p.Arg209Lys) c.568G>A c.623G>A (p.Arg208Lys) c.428-1561G>A (n.428-1561G>A) c.833G>A (p.Arg278Lys) c.830G>A (p.Arg277Lys) c.635-1561G>A (n.635-1561G>A) | gnomAD v4 |
1 | g.161544760_161544761delinsCT | CA1202785226 | FCGR3A | c.517_518delinsAG (p.Arg173=) c.514_515delinsAG (p.Arg172=) c.466_467delinsAG (p.Arg156=) c.625_626delinsAG (p.Arg209=) c.567_568delinsAG c.622_623delinsAG (p.Arg208=) c.428-1562_428-1561delinsAG (n.428-1562_428-1561delinsAG) c.832_833delinsAG (p.Arg278=) c.829_830delinsAG (p.Arg277=) c.635-1562_635-1561delinsAG (n.635-1562_635-1561delinsAG) | |
1 | g.161544761del | CA1211383 | FCGR3A | c.517del (p.Arg173GlyfsTer14) c.514del (p.Arg172GlyfsTer14) c.466del (p.Arg156GlyfsTer14) c.625del (p.Arg209GlyfsTer14) c.567del c.622del (p.Arg208GlyfsTer14) c.428-1562del (n.428-1562del) c.832del (p.Arg278GlyfsTer14) c.829del (p.Arg277GlyfsTer14) c.635-1562del (n.635-1562del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.161544761T>A | CA343367462 | FCGR3A | c.517A>T (p.Arg173Trp) c.514A>T (p.Arg172Trp) c.466A>T (p.Arg156Trp) c.625A>T (p.Arg209Trp) c.567A>T c.622A>T (p.Arg208Trp) c.428-1562A>T (n.428-1562A>T) c.832A>T (p.Arg278Trp) c.829A>T (p.Arg277Trp) c.635-1562A>T (n.635-1562A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.161544761T>C | CA343367464 | FCGR3A | c.517A>G (p.Arg173Gly) c.514A>G (p.Arg172Gly) c.466A>G (p.Arg156Gly) c.625A>G (p.Arg209Gly) c.567A>G c.622A>G (p.Arg208Gly) c.428-1562A>G (n.428-1562A>G) c.832A>G (p.Arg278Gly) c.829A>G (p.Arg277Gly) c.635-1562A>G (n.635-1562A>G) | |
1 | g.161544761T>G | CA421612448 | FCGR3A | c.517A>C (p.Arg173=) c.514A>C (p.Arg172=) c.466A>C (p.Arg156=) c.625A>C (p.Arg209=) c.567A>C c.622A>C (p.Arg208=) c.428-1562A>C (n.428-1562A>C) c.832A>C (p.Arg278=) c.829A>C (p.Arg277=) c.635-1562A>C (n.635-1562A>C) | |
1 | g.161544761T= | CA1202785227 | FCGR3A | c.517A= (p.Arg173=) c.514A= (p.Arg172=) c.466A= (p.Arg156=) c.625A= (p.Arg209=) c.567A= c.622A= (p.Arg208=) c.428-1562A= (n.428-1562A=) c.832A= (p.Arg278=) c.829A= (p.Arg277=) c.635-1562A= (n.635-1562A=) | |
1 | g.161544762G>A | CA1211384 | FCGR3A | c.516C>T (p.Cys172=) c.513C>T (p.Cys171=) c.465C>T (p.Cys155=) c.624C>T (p.Cys208=) c.566C>T c.621C>T (p.Cys207=) c.428-1563C>T (n.428-1563C>T) c.831C>T (p.Cys277=) c.828C>T (p.Cys276=) c.635-1563C>T (n.635-1563C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.161544762G>C | CA343367468 | FCGR3A | c.516C>G (p.Cys172Trp) c.513C>G (p.Cys171Trp) c.465C>G (p.Cys155Trp) c.624C>G (p.Cys208Trp) c.566C>G c.621C>G (p.Cys207Trp) c.428-1563C>G (n.428-1563C>G) c.831C>G (p.Cys277Trp) c.828C>G (p.Cys276Trp) c.635-1563C>G (n.635-1563C>G) | |
1 | g.161544762G= | CA1202785228 | FCGR3A | c.516C= (p.Cys172=) c.513C= (p.Cys171=) c.465C= (p.Cys155=) c.624C= (p.Cys208=) c.566C= c.621C= (p.Cys207=) c.428-1563C= (n.428-1563C=) c.831C= (p.Cys277=) c.828C= (p.Cys276=) c.635-1563C= (n.635-1563C=) | |
1 | g.161544762G>T | CA343367470 | FCGR3A | c.516C>A (p.Cys172Ter) c.513C>A (p.Cys171Ter) c.465C>A (p.Cys155Ter) c.624C>A (p.Cys208Ter) c.566C>A c.621C>A (p.Cys207Ter) c.428-1563C>A (n.428-1563C>A) c.831C>A (p.Cys277Ter) c.828C>A (p.Cys276Ter) c.635-1563C>A (n.635-1563C>A) | gnomAD v4 |
1 | g.161544763C>A | CA1211385 | FCGR3A | c.515G>T (p.Cys172Phe) c.512G>T (p.Cys171Phe) c.464G>T (p.Cys155Phe) c.623G>T (p.Cys208Phe) c.565G>T c.620G>T (p.Cys207Phe) c.428-1564G>T (n.428-1564G>T) c.830G>T (p.Cys277Phe) c.827G>T (p.Cys276Phe) c.635-1564G>T (n.635-1564G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.161544763C= | CA1149151868 | FCGR3A | c.515G= (p.Cys172=) c.512G= (p.Cys171=) c.464G= (p.Cys155=) c.623G= (p.Cys208=) c.565G= c.620G= (p.Cys207=) c.428-1564G= (n.428-1564G=) c.830G= (p.Cys277=) c.827G= (p.Cys276=) c.635-1564G= (n.635-1564G=) | |
1 | g.161544763C>G | CA343367473 | FCGR3A | c.515G>C (p.Cys172Ser) c.512G>C (p.Cys171Ser) c.464G>C (p.Cys155Ser) c.623G>C (p.Cys208Ser) c.565G>C c.620G>C (p.Cys207Ser) c.428-1564G>C (n.428-1564G>C) c.830G>C (p.Cys277Ser) c.827G>C (p.Cys276Ser) c.635-1564G>C (n.635-1564G>C) | |
1 | g.161544763C>T | CA343367474 | FCGR3A | c.515G>A (p.Cys172Tyr) c.512G>A (p.Cys171Tyr) c.464G>A (p.Cys155Tyr) c.623G>A (p.Cys208Tyr) c.565G>A c.620G>A (p.Cys207Tyr) c.428-1564G>A (n.428-1564G>A) c.830G>A (p.Cys277Tyr) c.827G>A (p.Cys276Tyr) c.635-1564G>A (n.635-1564G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.161544764A= | CA1202785229 | FCGR3A | c.514T= (p.Cys172=) c.511T= (p.Cys171=) c.463T= (p.Cys155=) c.622T= (p.Cys208=) c.564T= c.619T= (p.Cys207=) c.428-1565T= (n.428-1565T=) c.829T= (p.Cys277=) c.826T= (p.Cys276=) c.635-1565T= (n.635-1565T=) | |
1 | g.161544764A>C | CA343367479 | FCGR3A | c.514T>G (p.Cys172Gly) c.511T>G (p.Cys171Gly) c.463T>G (p.Cys155Gly) c.622T>G (p.Cys208Gly) c.564T>G c.619T>G (p.Cys207Gly) c.428-1565T>G (n.428-1565T>G) c.829T>G (p.Cys277Gly) c.826T>G (p.Cys276Gly) c.635-1565T>G (n.635-1565T>G) | |
1 | g.161544764A>G | CA343367477 | FCGR3A | c.514T>C (p.Cys172Arg) c.511T>C (p.Cys171Arg) c.463T>C (p.Cys155Arg) c.622T>C (p.Cys208Arg) c.564T>C c.619T>C (p.Cys207Arg) c.428-1565T>C (n.428-1565T>C) c.829T>C (p.Cys277Arg) c.826T>C (p.Cys276Arg) c.635-1565T>C (n.635-1565T>C) | dbSNP COSMIC |
1 | g.161544764A>T | CA343367478 | FCGR3A | c.514T>A (p.Cys172Ser) c.511T>A (p.Cys171Ser) c.463T>A (p.Cys155Ser) c.622T>A (p.Cys208Ser) c.564T>A c.619T>A (p.Cys207Ser) c.428-1565T>A (n.428-1565T>A) c.829T>A (p.Cys277Ser) c.826T>A (p.Cys276Ser) c.635-1565T>A (n.635-1565T>A) | |
1 | g.161544765G>A | CA421612452 | FCGR3A | c.513C>T (p.Phe171=) c.510C>T (p.Phe170=) c.462C>T (p.Phe154=) c.621C>T (p.Phe207=) c.563C>T c.618C>T (p.Phe206=) c.428-1566C>T (n.428-1566C>T) c.828C>T (p.Phe276=) c.825C>T (p.Phe275=) c.635-1566C>T (n.635-1566C>T) | |
1 | g.161544765G>C | CA343367480 | FCGR3A | c.513C>G (p.Phe171Leu) c.510C>G (p.Phe170Leu) c.462C>G (p.Phe154Leu) c.621C>G (p.Phe207Leu) c.563C>G c.618C>G (p.Phe206Leu) c.428-1566C>G (n.428-1566C>G) c.828C>G (p.Phe276Leu) c.825C>G (p.Phe275Leu) c.635-1566C>G (n.635-1566C>G) | |
1 | g.161544765G>T | CA343367481 | FCGR3A | c.513C>A (p.Phe171Leu) c.510C>A (p.Phe170Leu) c.462C>A (p.Phe154Leu) c.621C>A (p.Phe207Leu) c.563C>A c.618C>A (p.Phe206Leu) c.428-1566C>A (n.428-1566C>A) c.828C>A (p.Phe276Leu) c.825C>A (p.Phe275Leu) c.635-1566C>A (n.635-1566C>A) | |
1 | g.161544766A>C | CA343367483 | FCGR3A | c.512T>G (p.Phe171Cys) c.509T>G (p.Phe170Cys) c.461T>G (p.Phe154Cys) c.620T>G (p.Phe207Cys) c.562T>G c.617T>G (p.Phe206Cys) c.428-1567T>G (n.428-1567T>G) c.827T>G (p.Phe276Cys) c.824T>G (p.Phe275Cys) c.635-1567T>G (n.635-1567T>G) | |
1 | g.161544766A>G | CA343367485 | FCGR3A | c.512T>C (p.Phe171Ser) c.509T>C (p.Phe170Ser) c.461T>C (p.Phe154Ser) c.620T>C (p.Phe207Ser) c.562T>C c.617T>C (p.Phe206Ser) c.428-1567T>C (n.428-1567T>C) c.827T>C (p.Phe276Ser) c.824T>C (p.Phe275Ser) c.635-1567T>C (n.635-1567T>C) | |
1 | g.161544766A>T | CA343367486 | FCGR3A | c.512T>A (p.Phe171Tyr) c.509T>A (p.Phe170Tyr) c.461T>A (p.Phe154Tyr) c.620T>A (p.Phe207Tyr) c.562T>A c.617T>A (p.Phe206Tyr) c.428-1567T>A (n.428-1567T>A) c.827T>A (p.Phe276Tyr) c.824T>A (p.Phe275Tyr) c.635-1567T>A (n.635-1567T>A) | |
1 | g.161544767A= | CA1202785230 | FCGR3A | c.511T= (p.Phe171=) c.508T= (p.Phe170=) c.460T= (p.Phe154=) c.619T= (p.Phe207=) c.561T= c.616T= (p.Phe206=) c.428-1568T= (n.428-1568T=) c.826T= (p.Phe276=) c.823T= (p.Phe275=) c.635-1568T= (n.635-1568T=) | |
1 | g.161544767A>C | CA343367488 | FCGR3A | c.511T>G (p.Phe171Val) c.508T>G (p.Phe170Val) c.460T>G (p.Phe154Val) c.619T>G (p.Phe207Val) c.561T>G c.616T>G (p.Phe206Val) c.428-1568T>G (n.428-1568T>G) c.826T>G (p.Phe276Val) c.823T>G (p.Phe275Val) c.635-1568T>G (n.635-1568T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.161544767A>G | CA343367489 | FCGR3A | c.511T>C (p.Phe171Leu) c.508T>C (p.Phe170Leu) c.460T>C (p.Phe154Leu) c.619T>C (p.Phe207Leu) c.561T>C c.616T>C (p.Phe206Leu) c.428-1568T>C (n.428-1568T>C) c.826T>C (p.Phe276Leu) c.823T>C (p.Phe275Leu) c.635-1568T>C (n.635-1568T>C) | |
1 | g.161544767A>T | CA1211386 | FCGR3A | c.511T>A (p.Phe171Ile) c.508T>A (p.Phe170Ile) c.460T>A (p.Phe154Ile) c.619T>A (p.Phe207Ile) c.561T>A c.616T>A (p.Phe206Ile) c.428-1568T>A (n.428-1568T>A) c.826T>A (p.Phe276Ile) c.823T>A (p.Phe275Ile) c.635-1568T>A (n.635-1568T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.161544768G>A | CA421612454 | FCGR3A | c.510C>T (p.Tyr170=) c.507C>T (p.Tyr169=) c.459C>T (p.Tyr153=) c.618C>T (p.Tyr206=) c.560C>T c.615C>T (p.Tyr205=) c.428-1569C>T (n.428-1569C>T) c.825C>T (p.Tyr275=) c.822C>T (p.Tyr274=) c.635-1569C>T (n.635-1569C>T) | |
1 | g.161544768G>C | CA343367491 | FCGR3A | c.510C>G (p.Tyr170Ter) c.507C>G (p.Tyr169Ter) c.459C>G (p.Tyr153Ter) c.618C>G (p.Tyr206Ter) c.560C>G c.615C>G (p.Tyr205Ter) c.428-1569C>G (n.428-1569C>G) c.825C>G (p.Tyr275Ter) c.822C>G (p.Tyr274Ter) c.635-1569C>G (n.635-1569C>G) | |
1 | g.161544768G>T | CA343367493 | FCGR3A | c.510C>A (p.Tyr170Ter) c.507C>A (p.Tyr169Ter) c.459C>A (p.Tyr153Ter) c.618C>A (p.Tyr206Ter) c.560C>A c.615C>A (p.Tyr205Ter) c.428-1569C>A (n.428-1569C>A) c.825C>A (p.Tyr275Ter) c.822C>A (p.Tyr274Ter) c.635-1569C>A (n.635-1569C>A) | |
1 | g.161544770_161544781del | CA2573939412 | FCGR3A | c.499_510del (p.Ser167_Tyr170del) c.496_507del (p.Ser166_Tyr169del) c.448_459del (p.Ser150_Tyr153del) c.607_618del (p.Ser203_Tyr206del) c.549_560del c.604_615del (p.Ser202_Tyr205del) c.428-1580_428-1569del (n.428-1580_428-1569del) c.814_825del (p.Ser272_Tyr275del) c.811_822del (p.Ser271_Tyr274del) c.635-1580_635-1569del (n.635-1580_635-1569del) | |
1 | g.161544769T>A | CA343367496 | FCGR3A | c.509A>T (p.Tyr170Phe) c.506A>T (p.Tyr169Phe) c.458A>T (p.Tyr153Phe) c.617A>T (p.Tyr206Phe) c.559A>T c.614A>T (p.Tyr205Phe) c.428-1570A>T (n.428-1570A>T) c.824A>T (p.Tyr275Phe) c.821A>T (p.Tyr274Phe) c.635-1570A>T (n.635-1570A>T) | |
1 | g.161544769T>C | CA1211387 | FCGR3A | c.509A>G (p.Tyr170Cys) c.506A>G (p.Tyr169Cys) c.458A>G (p.Tyr153Cys) c.617A>G (p.Tyr206Cys) c.559A>G c.614A>G (p.Tyr205Cys) c.428-1570A>G (n.428-1570A>G) c.824A>G (p.Tyr275Cys) c.821A>G (p.Tyr274Cys) c.635-1570A>G (n.635-1570A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.161544769T>G | CA343367494 | FCGR3A | c.509A>C (p.Tyr170Ser) c.506A>C (p.Tyr169Ser) c.458A>C (p.Tyr153Ser) c.617A>C (p.Tyr206Ser) c.559A>C c.614A>C (p.Tyr205Ser) c.428-1570A>C (n.428-1570A>C) c.824A>C (p.Tyr275Ser) c.821A>C (p.Tyr274Ser) c.635-1570A>C (n.635-1570A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.161544769T= | CA1147915952 | FCGR3A | c.509A= (p.Tyr170=) c.506A= (p.Tyr169=) c.458A= (p.Tyr153=) c.617A= (p.Tyr206=) c.559A= c.614A= (p.Tyr205=) c.428-1570A= (n.428-1570A=) c.824A= (p.Tyr275=) c.821A= (p.Tyr274=) c.635-1570A= (n.635-1570A=) | |
1 | g.161544770A= | CA1202785231 | FCGR3A | c.508T= (p.Tyr170=) c.505T= (p.Tyr169=) c.457T= (p.Tyr153=) c.616T= (p.Tyr206=) c.558T= c.613T= (p.Tyr205=) c.428-1571T= (n.428-1571T=) c.823T= (p.Tyr275=) c.820T= (p.Tyr274=) c.635-1571T= (n.635-1571T=) | |
1 | g.161544770A>C | CA31715354 | FCGR3A | c.508T>G (p.Tyr170Asp) c.505T>G (p.Tyr169Asp) c.457T>G (p.Tyr153Asp) c.616T>G (p.Tyr206Asp) c.558T>G c.613T>G (p.Tyr205Asp) c.428-1571T>G (n.428-1571T>G) c.823T>G (p.Tyr275Asp) c.820T>G (p.Tyr274Asp) c.635-1571T>G (n.635-1571T>G) | dbSNP |
1 | g.161544770A>G | CA343367498 | FCGR3A | c.508T>C (p.Tyr170His) c.505T>C (p.Tyr169His) c.457T>C (p.Tyr153His) c.616T>C (p.Tyr206His) c.558T>C c.613T>C (p.Tyr205His) c.428-1571T>C (n.428-1571T>C) c.823T>C (p.Tyr275His) c.820T>C (p.Tyr274His) c.635-1571T>C (n.635-1571T>C) | |
1 | g.161544770A>T | CA343367500 | FCGR3A | c.508T>A (p.Tyr170Asn) c.505T>A (p.Tyr169Asn) c.457T>A (p.Tyr153Asn) c.616T>A (p.Tyr206Asn) c.558T>A c.613T>A (p.Tyr205Asn) c.428-1571T>A (n.428-1571T>A) c.823T>A (p.Tyr275Asn) c.820T>A (p.Tyr274Asn) c.635-1571T>A (n.635-1571T>A) | |
1 | g.161544771G>A | CA421612455 | FCGR3A | c.507C>T (p.Ser169=) c.504C>T (p.Ser168=) c.456C>T (p.Ser152=) c.615C>T (p.Ser205=) c.557C>T c.612C>T (p.Ser204=) c.428-1572C>T (n.428-1572C>T) c.822C>T (p.Ser274=) c.819C>T (p.Ser273=) c.635-1572C>T (n.635-1572C>T) | gnomAD v4 |