Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.136673753_136673760del | CA2692653738 | AGPAT2 | c.835_*5del (n.[c.835_*5del;Ter279ThrextTer?]) c.739_*5del (n.[c.739_*5del;Ter247ThrextTer?]) n.763_770del | gnomAD v4 |
9 | g.136673754_136673761dup | CA2692653745 | AGPAT2 | c.828_835dup (p.Ter279TrpextTer11) c.732_739dup (p.Ter247TrpextTer11) n.756_763dup | gnomAD v4 |
9 | g.136673755C>A | CA375576056 | AGPAT2 | c.834G>T (p.Gln278His) c.738G>T (p.Gln246His) n.762G>T | |
9 | g.136673755C>G | CA375576058 | AGPAT2 | c.834G>C (p.Gln278His) c.738G>C (p.Gln246His) n.762G>C | |
9 | g.136673755C>T | CA467736156 | AGPAT2 | c.834G>A (p.Gln278=) c.738G>A (p.Gln246=) n.762G>A | gnomAD v4 |
9 | g.136673756T>A | CA375576061 | AGPAT2 | c.833A>T (p.Gln278Leu) c.737A>T (p.Gln246Leu) n.761A>T | |
9 | g.136673756T>C | CA375576062 | AGPAT2 | c.833A>G (p.Gln278Arg) c.737A>G (p.Gln246Arg) n.761A>G | gnomAD v4 |
9 | g.136673756T>G | CA375576064 | AGPAT2 | c.833A>C (p.Gln278Pro) c.737A>C (p.Gln246Pro) n.761A>C | |
9 | g.136673756_136673759dup | CA2692653746 | AGPAT2 | c.830_833dup (p.Gln278HisfsTer?) c.734_737dup (p.Gln246HisfsTer?) n.758_761dup | gnomAD v4 |
9 | g.136673757G>A | CA375576066 | AGPAT2 | c.832C>T (p.Gln278Ter) c.736C>T (p.Gln246Ter) n.760C>T | |
9 | g.136673757G>C | CA375576067 | AGPAT2 | c.832C>G (p.Gln278Glu) c.736C>G (p.Gln246Glu) n.760C>G | |
9 | g.136673757G>T | CA375576065 | AGPAT2 | c.832C>A (p.Gln278Lys) c.736C>A (p.Gln246Lys) n.760C>A | gnomAD v4 |
9 | g.136673758G>A | CA467736167 | AGPAT2 | c.831C>T (p.Ala277=) c.735C>T (p.Ala245=) n.759C>T | gnomAD v4 |
9 | g.136673758G>C | CA467736169 | AGPAT2 | c.831C>G (p.Ala277=) c.735C>G (p.Ala245=) n.759C>G | |
9 | g.136673758G>T | CA467736171 | AGPAT2 | c.831C>A (p.Ala277=) c.735C>A (p.Ala245=) n.759C>A | |
9 | g.136673760_136673825del | CA5342801 | AGPAT2 | c.766_831del (p.Phe256_Ala277del) c.670_735del (p.Phe224_Ala245del) n.694_759del | ExAC gnomAD v2 gnomAD v4 |
9 | g.136673759G>A | CA375576069 | AGPAT2 | c.830C>T (p.Ala277Val) c.734C>T (p.Ala245Val) n.758C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673759G>C | CA375576071 | AGPAT2 | c.830C>G (p.Ala277Gly) c.734C>G (p.Ala245Gly) n.758C>G | |
9 | g.136673759G>T | CA375576072 | AGPAT2 | c.830C>A (p.Ala277Asp) c.734C>A (p.Ala245Asp) n.758C>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673760C>A | CA375576075 | AGPAT2 | c.829G>T (p.Ala277Ser) c.733G>T (p.Ala245Ser) n.757G>T | gnomAD v4 |
9 | g.136673760C>G | CA375576077 | AGPAT2 | c.829G>C (p.Ala277Pro) c.733G>C (p.Ala245Pro) n.757G>C | |
9 | g.136673760C>T | CA375576078 | AGPAT2 | c.829G>A (p.Ala277Thr) c.733G>A (p.Ala245Thr) n.757G>A | |
9 | g.136673769_136673770insAGCCCGGCTGCAC | CA2579519875 | AGPAT2 | c.829_830insGCTGTGCAGCCGG (p.Ala277GlyfsTer?) c.733_734insGCTGTGCAGCCGG (p.Ala245GlyfsTer?) n.757_758insGCTGTGCAGCCGG | |
9 | g.136673761C>A | CA467736186 | AGPAT2 | c.828G>T (p.Pro276=) c.732G>T (p.Pro244=) n.756G>T | dbSNP gnomAD v4 COSMIC |
9 | g.136673761C>G | CA467736189 | AGPAT2 | c.828G>C (p.Pro276=) c.732G>C (p.Pro244=) n.756G>C | |
9 | g.136673761C>T | CA467736191 | AGPAT2 | c.828G>A (p.Pro276=) c.732G>A (p.Pro244=) n.756G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673762G>A | CA5342802 | AGPAT2 | c.827C>T (p.Pro276Leu) c.731C>T (p.Pro244Leu) n.755C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673762G>C | CA375576080 | AGPAT2 | c.827C>G (p.Pro276Arg) c.731C>G (p.Pro244Arg) n.755C>G | |
9 | g.136673762G>T | CA375576082 | AGPAT2 | c.827C>A (p.Pro276Gln) c.731C>A (p.Pro244Gln) n.755C>A | gnomAD v4 |
9 | g.136673763G>A | CA375576086 | AGPAT2 | c.826C>T (p.Pro276Ser) c.730C>T (p.Pro244Ser) n.754C>T | gnomAD v4 |
9 | g.136673763G>C | CA375576087 | AGPAT2 | c.826C>G (p.Pro276Ala) c.730C>G (p.Pro244Ala) n.754C>G | gnomAD v4 |
9 | g.136673763G>T | CA375576090 | AGPAT2 | c.826C>A (p.Pro276Thr) c.730C>A (p.Pro244Thr) n.754C>A | gnomAD v4 |
9 | g.136673764_136673774dup | CA2579519876 | AGPAT2 | c.816_826dup (p.Pro276LeufsTer15) c.720_730dup (p.Pro244LeufsTer15) n.744_754dup | gnomAD v4 |
9 | g.136673764C>A | CA375576093 | AGPAT2 | c.825G>T (p.Gln275His) c.729G>T (p.Gln243His) n.753G>T | gnomAD v4 |
9 | g.136673764C>G | CA375576094 | AGPAT2 | c.825G>C (p.Gln275His) c.729G>C (p.Gln243His) n.753G>C | |
9 | g.136673764C>T | CA467736208 | AGPAT2 | c.825G>A (p.Gln275=) c.729G>A (p.Gln243=) n.753G>A | gnomAD v4 |
9 | g.136673765T>A | CA375576100 | AGPAT2 | c.824A>T (p.Gln275Leu) c.728A>T (p.Gln243Leu) n.752A>T | |
9 | g.136673765T>C | CA375576097 | AGPAT2 | c.824A>G (p.Gln275Arg) c.728A>G (p.Gln243Arg) n.752A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673765T>G | CA375576098 | AGPAT2 | c.824A>C (p.Gln275Pro) c.728A>C (p.Gln243Pro) n.752A>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673766G>A | CA375576103 | AGPAT2 | c.823C>T (p.Gln275Ter) c.727C>T (p.Gln243Ter) n.751C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673766G>C | CA375576104 | AGPAT2 | c.823C>G (p.Gln275Glu) c.727C>G (p.Gln243Glu) n.751C>G | |
9 | g.136673766G>T | CA375576105 | AGPAT2 | c.823C>A (p.Gln275Lys) c.727C>A (p.Gln243Lys) n.751C>A | gnomAD v4 |
9 | g.136673767C>A | CA467736227 | AGPAT2 | c.822G>T (p.Val274=) c.726G>T (p.Val242=) n.750G>T | gnomAD v4 |
9 | g.136673767C>G | CA467736220 | AGPAT2 | c.822G>C (p.Val274=) c.726G>C (p.Val242=) n.750G>C | |
9 | g.136673767C>T | CA467736224 | AGPAT2 | c.822G>A (p.Val274=) c.726G>A (p.Val242=) n.750G>A | gnomAD v4 |
9 | g.136673768A>C | CA375576108 | AGPAT2 | c.821T>G (p.Val274Gly) c.725T>G (p.Val242Gly) n.749T>G | |
9 | g.136673768A>G | CA375576110 | AGPAT2 | c.821T>C (p.Val274Ala) c.725T>C (p.Val242Ala) n.749T>C | gnomAD v4 |
9 | g.136673768A>T | CA375576111 | AGPAT2 | c.821T>A (p.Val274Glu) c.725T>A (p.Val242Glu) n.749T>A | |
9 | g.136673769C>A | CA375576114 | AGPAT2 | c.820G>T (p.Val274Leu) c.724G>T (p.Val242Leu) n.748G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673769C>G | CA375576115 | AGPAT2 | c.820G>C (p.Val274Leu) c.724G>C (p.Val242Leu) n.748G>C | gnomAD v4 |
9 | g.136673769C>T | CA5342803 | AGPAT2 | c.820G>A (p.Val274Met) c.724G>A (p.Val242Met) n.748G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673770G>A | CA5342804 | AGPAT2 | c.819C>T (p.Gly273=) c.723C>T (p.Gly241=) n.747C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673770G>C | CA467736241 | AGPAT2 | c.819C>G (p.Gly273=) c.723C>G (p.Gly241=) n.747C>G | |
9 | g.136673770G>T | CA467736240 | AGPAT2 | c.819C>A (p.Gly273=) c.723C>A (p.Gly241=) n.747C>A | gnomAD v4 |
9 | g.136673771_136673804del | CA2692653747 | AGPAT2 | c.786_819del (p.Pro263CysfsTer13) c.690_723del (p.Pro231CysfsTer13) n.714_747del | gnomAD v4 |
9 | g.136673771C>A | CA375576118 | AGPAT2 | c.818G>T (p.Gly273Val) c.722G>T (p.Gly241Val) n.746G>T | gnomAD v4 |
9 | g.136673771C>G | CA5342805 | AGPAT2 | c.818G>C (p.Gly273Ala) c.722G>C (p.Gly241Ala) n.746G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673771C>T | CA375576121 | AGPAT2 | c.818G>A (p.Gly273Asp) c.722G>A (p.Gly241Asp) n.746G>A | gnomAD v4 |
9 | g.136673772_136673779dup | CA2692653748 | AGPAT2 | c.811_818dup (p.Val274GlyfsTer16) c.715_722dup (p.Val242GlyfsTer16) n.739_746dup | gnomAD v4 |
9 | g.136673772C>A | CA375576124 | AGPAT2 | c.817G>T (p.Gly273Cys) c.721G>T (p.Gly241Cys) n.745G>T | |
9 | g.136673772C>G | CA375576127 | AGPAT2 | c.817G>C (p.Gly273Arg) c.721G>C (p.Gly241Arg) n.745G>C | |
9 | g.136673772C>T | CA375576125 | AGPAT2 | c.817G>A (p.Gly273Ser) c.721G>A (p.Gly241Ser) n.745G>A | dbSNP gnomAD v4 |
9 | g.136673773A>C | CA467736254 | AGPAT2 | c.816T>G (p.Ser272=) c.720T>G (p.Ser240=) n.744T>G | |
9 | g.136673773A>G | CA467736255 | AGPAT2 | c.816T>C (p.Ser272=) c.720T>C (p.Ser240=) n.744T>C | gnomAD v4 |
9 | g.136673773A>T | CA467736253 | AGPAT2 | c.816T>A (p.Ser272=) c.720T>A (p.Ser240=) n.744T>A | |
9 | g.136673774G>A | CA375576128 | AGPAT2 | c.815C>T (p.Ser272Phe) c.719C>T (p.Ser240Phe) n.743C>T | |
9 | g.136673774G>C | CA201623549 | AGPAT2 | c.815C>G (p.Ser272Cys) c.719C>G (p.Ser240Cys) n.743C>G | dbSNP gnomAD v4 |
9 | g.136673774G>T | CA375576131 | AGPAT2 | c.815C>A (p.Ser272Tyr) c.719C>A (p.Ser240Tyr) n.743C>A | gnomAD v4 |
9 | g.136673775A>C | CA375576134 | AGPAT2 | c.814T>G (p.Ser272Ala) c.718T>G (p.Ser240Ala) n.742T>G | |
9 | g.136673775A>G | CA375576136 | AGPAT2 | c.814T>C (p.Ser272Pro) c.718T>C (p.Ser240Pro) n.742T>C | gnomAD v4 |
9 | g.136673775A>T | CA375576137 | AGPAT2 | c.814T>A (p.Ser272Thr) c.718T>A (p.Ser240Thr) n.742T>A | |
9 | g.136673776C>A | CA5342806 | AGPAT2 | c.813G>T (p.Gly271=) c.717G>T (p.Gly239=) n.741G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673776C>G | CA467736906 | AGPAT2 | c.813G>C (p.Gly271=) c.717G>C (p.Gly239=) n.741G>C | |
9 | g.136673776C>T | CA201626747 | AGPAT2 | c.813G>A (p.Gly271=) c.717G>A (p.Gly239=) n.741G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673777C>A | CA375577056 | AGPAT2 | c.812G>T (p.Gly271Val) c.716G>T (p.Gly239Val) n.740G>T | gnomAD v4 |
9 | g.136673777C>G | CA375577058 | AGPAT2 | c.812G>C (p.Gly271Ala) c.716G>C (p.Gly239Ala) n.740G>C | |
9 | g.136673777C>T | CA375577060 | AGPAT2 | c.812G>A (p.Gly271Glu) c.716G>A (p.Gly239Glu) n.740G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673778C>A | CA375577062 | AGPAT2 | c.811G>T (p.Gly271Trp) c.715G>T (p.Gly239Trp) n.739G>T | |
9 | g.136673778C>G | CA375577064 | AGPAT2 | c.811G>C (p.Gly271Arg) c.715G>C (p.Gly239Arg) n.739G>C | |
9 | g.136673778C>T | CA375577066 | AGPAT2 | c.811G>A (p.Gly271Arg) c.715G>A (p.Gly239Arg) n.739G>A | gnomAD v4 |
9 | g.136673779C>A | CA467736922 | AGPAT2 | c.810G>T (p.Ala270=) c.714G>T (p.Ala238=) n.738G>T | gnomAD v4 |
9 | g.136673779C>G | CA467736924 | AGPAT2 | c.810G>C (p.Ala270=) c.714G>C (p.Ala238=) n.738G>C | |
9 | g.136673779C>T | CA5342807 | AGPAT2 | c.810G>A (p.Ala270=) c.714G>A (p.Ala238=) n.738G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673780G>A | CA5342808 | AGPAT2 | c.809C>T (p.Ala270Val) c.713C>T (p.Ala238Val) n.737C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673780G>C | CA375577068 | AGPAT2 | c.809C>G (p.Ala270Gly) c.713C>G (p.Ala238Gly) n.737C>G | |
9 | g.136673780G>T | CA375577069 | AGPAT2 | c.809C>A (p.Ala270Glu) c.713C>A (p.Ala238Glu) n.737C>A | |
9 | g.136673781C>A | CA375577071 | AGPAT2 | c.808G>T (p.Ala270Ser) c.712G>T (p.Ala238Ser) n.736G>T | gnomAD v4 |
9 | g.136673781C>G | CA375577072 | AGPAT2 | c.808G>C (p.Ala270Pro) c.712G>C (p.Ala238Pro) n.736G>C | |
9 | g.136673781C>T | CA375577073 | AGPAT2 | c.808G>A (p.Ala270Thr) c.712G>A (p.Ala238Thr) n.736G>A | dbSNP gnomAD v4 |
9 | g.136673782A>C | CA467736942 | AGPAT2 | c.807T>G (p.Thr269=) c.711T>G (p.Thr237=) n.735T>G | |
9 | g.136673782A>G | CA467736944 | AGPAT2 | c.807T>C (p.Thr269=) c.711T>C (p.Thr237=) n.735T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673782A>T | CA467736946 | AGPAT2 | c.807T>A (p.Thr269=) c.711T>A (p.Thr237=) n.735T>A | |
9 | g.136673783G>A | CA375577074 | AGPAT2 | c.806C>T (p.Thr269Ile) c.710C>T (p.Thr237Ile) n.734C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673783G>C | CA375577076 | AGPAT2 | c.806C>G (p.Thr269Ser) c.710C>G (p.Thr237Ser) n.734C>G | |
9 | g.136673783G>T | CA375577077 | AGPAT2 | c.806C>A (p.Thr269Asn) c.710C>A (p.Thr237Asn) n.734C>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673784T>A | CA375577079 | AGPAT2 | c.805A>T (p.Thr269Ser) c.709A>T (p.Thr237Ser) n.733A>T | |
9 | g.136673784T>C | CA375577081 | AGPAT2 | c.805A>G (p.Thr269Ala) c.709A>G (p.Thr237Ala) n.733A>G | |
9 | g.136673784T>G | CA375577083 | AGPAT2 | c.805A>C (p.Thr269Pro) c.709A>C (p.Thr237Pro) n.733A>C | |
9 | g.136673787_136673800del | CA2692653749 | AGPAT2 | c.792_805del (p.Gln264HisfsTer?) c.696_709del (p.Gln232HisfsTer?) n.720_733del | gnomAD v4 |
9 | g.136673785G>A | CA467736958 | AGPAT2 | c.804C>T (p.Ala268=) c.708C>T (p.Ala236=) n.732C>T | |
9 | g.136673785G>C | CA467736959 | AGPAT2 | c.804C>G (p.Ala268=) c.708C>G (p.Ala236=) n.732C>G | |
9 | g.136673785G>T | CA467736960 | AGPAT2 | c.804C>A (p.Ala268=) c.708C>A (p.Ala236=) n.732C>A | |
9 | g.136673786G>A | CA5342809 | AGPAT2 | c.803C>T (p.Ala268Val) c.707C>T (p.Ala236Val) n.731C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673786G>C | CA375577087 | AGPAT2 | c.803C>G (p.Ala268Gly) c.707C>G (p.Ala236Gly) n.731C>G | |
9 | g.136673786G>T | CA375577085 | AGPAT2 | c.803C>A (p.Ala268Asp) c.707C>A (p.Ala236Asp) n.731C>A | gnomAD v4 |
9 | g.136673787C>A | CA375577090 | AGPAT2 | c.802G>T (p.Ala268Ser) c.706G>T (p.Ala236Ser) n.730G>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673787C>G | CA375577093 | AGPAT2 | c.802G>C (p.Ala268Pro) c.706G>C (p.Ala236Pro) n.730G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673787C>T | CA375577092 | AGPAT2 | c.802G>A (p.Ala268Thr) c.706G>A (p.Ala236Thr) n.730G>A | gnomAD v4 COSMIC |
9 | g.136673790del | CA2692653750 | AGPAT2 | c.802del (p.Ala268ProfsTer19) c.706del (p.Ala236ProfsTer19) n.730del | gnomAD v4 |
9 | g.136673788C>A | CA467736962 | AGPAT2 | c.801G>T (p.Gly267=) c.705G>T (p.Gly235=) n.729G>T | gnomAD v4 |
9 | g.136673788C>G | CA467736963 | AGPAT2 | c.801G>C (p.Gly267=) c.705G>C (p.Gly235=) n.729G>C | |
9 | g.136673788C>T | CA5342810 | AGPAT2 | c.801G>A (p.Gly267=) c.705G>A (p.Gly235=) n.729G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673789C>A | CA375577098 | AGPAT2 | c.800G>T (p.Gly267Val) c.704G>T (p.Gly235Val) n.728G>T | |
9 | g.136673789C>G | CA375577096 | AGPAT2 | c.800G>C (p.Gly267Ala) c.704G>C (p.Gly235Ala) n.728G>C | |
9 | g.136673789C>T | CA375577100 | AGPAT2 | c.800G>A (p.Gly267Glu) c.704G>A (p.Gly235Glu) n.728G>A | gnomAD v4 |
9 | g.136673789_136673792del | CA591367746 | AGPAT2 | c.797_800del (p.Asn266ArgfsTer20) c.701_704del (p.Asn234ArgfsTer20) n.725_728del | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673790C>A | CA375577103 | AGPAT2 | c.799G>T (p.Gly267Trp) c.703G>T (p.Gly235Trp) n.727G>T | gnomAD v4 |
9 | g.136673790C>G | CA375577104 | AGPAT2 | c.799G>C (p.Gly267Arg) c.703G>C (p.Gly235Arg) n.727G>C | dbSNP |
9 | g.136673790C>T | CA5342811 | AGPAT2 | c.799G>A (p.Gly267Arg) c.703G>A (p.Gly235Arg) n.727G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673791G>A | CA5342812 | AGPAT2 | c.798C>T (p.Asn266=) c.702C>T (p.Asn234=) n.726C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673791G>C | CA375577108 | AGPAT2 | c.798C>G (p.Asn266Lys) c.702C>G (p.Asn234Lys) n.726C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673791G>T | CA375577111 | AGPAT2 | c.798C>A (p.Asn266Lys) c.702C>A (p.Asn234Lys) n.726C>A | |
9 | g.136673792T>A | CA375577113 | AGPAT2 | c.797A>T (p.Asn266Ile) c.701A>T (p.Asn234Ile) n.725A>T | |
9 | g.136673792T>C | CA375577114 | AGPAT2 | c.797A>G (p.Asn266Ser) c.701A>G (p.Asn234Ser) n.725A>G | |
9 | g.136673792T>G | CA375577115 | AGPAT2 | c.797A>C (p.Asn266Thr) c.701A>C (p.Asn234Thr) n.725A>C | dbSNP gnomAD v4 |
9 | g.136673793T>A | CA375577118 | AGPAT2 | c.796A>T (p.Asn266Tyr) c.700A>T (p.Asn234Tyr) n.724A>T | |
9 | g.136673793T>C | CA375577119 | AGPAT2 | c.796A>G (p.Asn266Asp) c.700A>G (p.Asn234Asp) n.724A>G | |
9 | g.136673793T>G | CA375577121 | AGPAT2 | c.796A>C (p.Asn266His) c.700A>C (p.Asn234His) n.724A>C | |
9 | g.136673794C>A | CA375577125 | AGPAT2 | c.795G>T (p.Glu265Asp) c.699G>T (p.Glu233Asp) n.723G>T | gnomAD v4 |
9 | g.136673794C>G | CA375577122 | AGPAT2 | c.795G>C (p.Glu265Asp) c.699G>C (p.Glu233Asp) n.723G>C | |
9 | g.136673794C>T | CA5342813 | AGPAT2 | c.795G>A (p.Glu265=) c.699G>A (p.Glu233=) n.723G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673795T>A | CA375577127 | AGPAT2 | c.794A>T (p.Glu265Val) c.698A>T (p.Glu233Val) n.722A>T | |
9 | g.136673795T>C | CA375577128 | AGPAT2 | c.794A>G (p.Glu265Gly) c.698A>G (p.Glu233Gly) n.722A>G | |
9 | g.136673795T>G | CA375577130 | AGPAT2 | c.794A>C (p.Glu265Ala) c.698A>C (p.Glu233Ala) n.722A>C | |
9 | g.136673795_136673855del | CA2692653751 | AGPAT2 | c.734_794del (p.Val245GlyfsTer22) c.638_698del (p.Val213GlyfsTer22) n.662_722del | gnomAD v4 |
9 | g.136673796C>A | CA375577133 | AGPAT2 | c.793G>T (p.Glu265Ter) c.697G>T (p.Glu233Ter) n.721G>T | |
9 | g.136673796C>G | CA375577134 | AGPAT2 | c.793G>C (p.Glu265Gln) c.697G>C (p.Glu233Gln) n.721G>C | |
9 | g.136673796C>T | CA375577135 | AGPAT2 | c.793G>A (p.Glu265Lys) c.697G>A (p.Glu233Lys) n.721G>A | |
9 | g.136673797C>A | CA375577138 | AGPAT2 | c.792G>T (p.Gln264His) c.696G>T (p.Gln232His) n.720G>T | gnomAD v4 |
9 | g.136673797C>G | CA375577140 | AGPAT2 | c.792G>C (p.Gln264His) c.696G>C (p.Gln232His) n.720G>C | |
9 | g.136673797C>T | CA467736971 | AGPAT2 | c.792G>A (p.Gln264=) c.696G>A (p.Gln232=) n.720G>A | gnomAD v4 |
9 | g.136673798T>A | CA375577142 | AGPAT2 | c.791A>T (p.Gln264Leu) c.695A>T (p.Gln232Leu) n.719A>T | |
9 | g.136673798T>C | CA375577144 | AGPAT2 | c.791A>G (p.Gln264Arg) c.695A>G (p.Gln232Arg) n.719A>G | |
9 | g.136673798T>G | CA375577146 | AGPAT2 | c.791A>C (p.Gln264Pro) c.695A>C (p.Gln232Pro) n.719A>C | |
9 | g.136673799G>A | CA5342814 | AGPAT2 | c.790C>T (p.Gln264Ter) c.694C>T (p.Gln232Ter) n.718C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673799G>C | CA375577148 | AGPAT2 | c.790C>G (p.Gln264Glu) c.694C>G (p.Gln232Glu) n.718C>G | |
9 | g.136673799G>T | CA375577147 | AGPAT2 | c.790C>A (p.Gln264Lys) c.694C>A (p.Gln232Lys) n.718C>A | |
9 | g.136673804dup | CA2692653752 | AGPAT2 | c.790dup (p.Gln264ProfsTer?) c.694dup (p.Gln232ProfsTer?) n.718dup | gnomAD v4 |
9 | g.136673804del | CA2692653753 | AGPAT2 | c.790del (p.Gln264ArgfsTer23) c.694del (p.Gln232ArgfsTer23) n.718del | gnomAD v4 |
9 | g.136673800G>A | CA201626782 | AGPAT2 | c.789C>T (p.Pro263=) c.693C>T (p.Pro231=) n.717C>T | dbSNP |
9 | g.136673800G>C | CA467736976 | AGPAT2 | c.789C>G (p.Pro263=) c.693C>G (p.Pro231=) n.717C>G | |
9 | g.136673800G>T | CA5342815 | AGPAT2 | c.789C>A (p.Pro263=) c.693C>A (p.Pro231=) n.717C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673801G>A | CA5342816 | AGPAT2 | c.788C>T (p.Pro263Leu) c.692C>T (p.Pro231Leu) n.716C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673801G>C | CA375577152 | AGPAT2 | c.788C>G (p.Pro263Arg) c.692C>G (p.Pro231Arg) n.716C>G | ClinVar |
9 | g.136673801G= | CA2580903229 | AGPAT2 | c.788C= (p.Pro263=) c.692C= (p.Pro231=) n.716C= | |
9 | g.136673801G>T | CA375577153 | AGPAT2 | c.788C>A (p.Pro263His) c.692C>A (p.Pro231His) n.716C>A | |
9 | g.136673802G>A | CA375577155 | AGPAT2 | c.787C>T (p.Pro263Ser) c.691C>T (p.Pro231Ser) n.715C>T | |
9 | g.136673802G>C | CA375577157 | AGPAT2 | c.787C>G (p.Pro263Ala) c.691C>G (p.Pro231Ala) n.715C>G | gnomAD v4 |
9 | g.136673802G>T | CA375577159 | AGPAT2 | c.787C>A (p.Pro263Thr) c.691C>A (p.Pro231Thr) n.715C>A | |
9 | g.136673803G>A | CA5342817 | AGPAT2 | c.786C>T (p.Thr262=) c.690C>T (p.Thr230=) n.714C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673803G>C | CA467736979 | AGPAT2 | c.786C>G (p.Thr262=) c.690C>G (p.Thr230=) n.714C>G | |
9 | g.136673803G>T | CA5342818 | AGPAT2 | c.786C>A (p.Thr262=) c.690C>A (p.Thr230=) n.714C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673804G>A | CA5342819 | AGPAT2 | c.785C>T (p.Thr262Ile) c.689C>T (p.Thr230Ile) n.713C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673804G>C | CA375577164 | AGPAT2 | c.785C>G (p.Thr262Ser) c.689C>G (p.Thr230Ser) n.713C>G | |
9 | g.136673804G>T | CA375577166 | AGPAT2 | c.785C>A (p.Thr262Asn) c.689C>A (p.Thr230Asn) n.713C>A | gnomAD v4 |
9 | g.136673805T>A | CA375577170 | AGPAT2 | c.784A>T (p.Thr262Ser) c.688A>T (p.Thr230Ser) n.712A>T | |
9 | g.136673805T>C | CA375577172 | AGPAT2 | c.784A>G (p.Thr262Ala) c.688A>G (p.Thr230Ala) n.712A>G | |
9 | g.136673805T>G | CA375577168 | AGPAT2 | c.784A>C (p.Thr262Pro) c.688A>C (p.Thr230Pro) n.712A>C | |
9 | g.136673806C>A | CA375577174 | AGPAT2 | c.783G>T (p.Lys261Asn) c.687G>T (p.Lys229Asn) n.711G>T | gnomAD v4 |
9 | g.136673806C>G | CA375577176 | AGPAT2 | c.783G>C (p.Lys261Asn) c.687G>C (p.Lys229Asn) n.711G>C | |
9 | g.136673806C>T | CA5342820 | AGPAT2 | c.783G>A (p.Lys261=) c.687G>A (p.Lys229=) n.711G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673807T>A | CA375577179 | AGPAT2 | c.782A>T (p.Lys261Met) c.686A>T (p.Lys229Met) n.710A>T | |
9 | g.136673807T>C | CA5342821 | AGPAT2 | c.782A>G (p.Lys261Arg) c.686A>G (p.Lys229Arg) n.710A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673807T>G | CA375577182 | AGPAT2 | c.782A>C (p.Lys261Thr) c.686A>C (p.Lys229Thr) n.710A>C | |
9 | g.136673808T>A | CA375577187 | AGPAT2 | c.781A>T (p.Lys261Ter) c.685A>T (p.Lys229Ter) n.709A>T | |
9 | g.136673808T>C | CA5342822 | AGPAT2 | c.781A>G (p.Lys261Glu) c.685A>G (p.Lys229Glu) n.709A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673808T>G | CA375577185 | AGPAT2 | c.781A>C (p.Lys261Gln) c.685A>C (p.Lys229Gln) n.709A>C | |
9 | g.136673809G>A | CA201626808 | AGPAT2 | c.780C>T (p.Ser260=) c.684C>T (p.Ser228=) n.708C>T | dbSNP gnomAD v4 |
9 | g.136673809G>C | CA467736986 | AGPAT2 | c.780C>G (p.Ser260=) c.684C>G (p.Ser228=) n.708C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673809G>T | CA467736985 | AGPAT2 | c.780C>A (p.Ser260=) c.684C>A (p.Ser228=) n.708C>A | |
9 | g.136673810G>A | CA375577190 | AGPAT2 | c.779C>T (p.Ser260Phe) c.683C>T (p.Ser228Phe) n.707C>T | gnomAD v4 |
9 | g.136673810G>C | CA5342823 | AGPAT2 | c.779C>G (p.Ser260Cys) c.683C>G (p.Ser228Cys) n.707C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673810G>T | CA375577192 | AGPAT2 | c.779C>A (p.Ser260Tyr) c.683C>A (p.Ser228Tyr) n.707C>A | |
9 | g.136673811A>C | CA375577194 | AGPAT2 | c.778T>G (p.Ser260Ala) c.682T>G (p.Ser228Ala) n.706T>G | |
9 | g.136673811A>G | CA375577195 | AGPAT2 | c.778T>C (p.Ser260Pro) c.682T>C (p.Ser228Pro) n.706T>C | |
9 | g.136673811A>T | CA375577196 | AGPAT2 | c.778T>A (p.Ser260Thr) c.682T>A (p.Ser228Thr) n.706T>A | |
9 | g.136673812G>A | CA467736990 | AGPAT2 | c.777C>T (p.Ile259=) c.681C>T (p.Ile227=) n.705C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673812G>C | CA375577198 | AGPAT2 | c.777C>G (p.Ile259Met) c.681C>G (p.Ile227Met) n.705C>G | |
9 | g.136673812G>T | CA467736991 | AGPAT2 | c.777C>A (p.Ile259=) c.681C>A (p.Ile227=) n.705C>A | gnomAD v4 |
9 | g.136673813A>C | CA375577203 | AGPAT2 | c.776T>G (p.Ile259Ser) c.680T>G (p.Ile227Ser) n.704T>G | |
9 | g.136673813A>G | CA201626809 | AGPAT2 | c.776T>C (p.Ile259Thr) c.680T>C (p.Ile227Thr) n.704T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673813A>T | CA375577201 | AGPAT2 | c.776T>A (p.Ile259Asn) c.680T>A (p.Ile227Asn) n.704T>A | |
9 | g.136673814T>A | CA375577205 | AGPAT2 | c.775A>T (p.Ile259Phe) c.679A>T (p.Ile227Phe) n.703A>T | gnomAD v4 |
9 | g.136673814T>C | CA375577207 | AGPAT2 | c.775A>G (p.Ile259Val) c.679A>G (p.Ile227Val) n.703A>G | |
9 | g.136673814T>G | CA375577209 | AGPAT2 | c.775A>C (p.Ile259Leu) c.679A>C (p.Ile227Leu) n.703A>C | |
9 | g.136673815G>A | CA467736993 | AGPAT2 | c.774C>T (p.His258=) c.678C>T (p.His226=) n.702C>T | gnomAD v4 |
9 | g.136673815G>C | CA375577211 | AGPAT2 | c.774C>G (p.His258Gln) c.678C>G (p.His226Gln) n.702C>G | |
9 | g.136673815G>T | CA375577213 | AGPAT2 | c.774C>A (p.His258Gln) c.678C>A (p.His226Gln) n.702C>A | |
9 | g.136673816_136673818del | CA2579519877 | AGPAT2 | c.772_774del (p.His258del) c.676_678del (p.His226del) n.700_702del | |
9 | g.136673816T>A | CA375577216 | AGPAT2 | c.773A>T (p.His258Leu) c.677A>T (p.His226Leu) n.701A>T | |
9 | g.136673816T>C | CA375577217 | AGPAT2 | c.773A>G (p.His258Arg) c.677A>G (p.His226Arg) n.701A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673816T>G | CA375577219 | AGPAT2 | c.773A>C (p.His258Pro) c.677A>C (p.His226Pro) n.701A>C | |
9 | g.136673817G>A | CA375577220 | AGPAT2 | c.772C>T (p.His258Tyr) c.676C>T (p.His226Tyr) n.700C>T | |
9 | g.136673817G>C | CA375577222 | AGPAT2 | c.772C>G (p.His258Asp) c.676C>G (p.His226Asp) n.700C>G | |
9 | g.136673817G>T | CA375577223 | AGPAT2 | c.772C>A (p.His258Asn) c.676C>A (p.His226Asn) n.700C>A | |
9 | g.136673818G>A | CA467736999 | AGPAT2 | c.771C>T (p.Leu257=) c.675C>T (p.Leu225=) n.699C>T | gnomAD v4 |
9 | g.136673818G>C | CA467736998 | AGPAT2 | c.771C>G (p.Leu257=) c.675C>G (p.Leu225=) n.699C>G | |
9 | g.136673818G>T | CA467736996 | AGPAT2 | c.771C>A (p.Leu257=) c.675C>A (p.Leu225=) n.699C>A | |
9 | g.136673819A>C | CA375577229 | AGPAT2 | c.770T>G (p.Leu257Arg) c.674T>G (p.Leu225Arg) n.698T>G | |
9 | g.136673819A>G | CA375577228 | AGPAT2 | c.770T>C (p.Leu257Pro) c.674T>C (p.Leu225Pro) n.698T>C | |
9 | g.136673819A>T | CA375577226 | AGPAT2 | c.770T>A (p.Leu257His) c.674T>A (p.Leu225His) n.698T>A | |
9 | g.136673820G>A | CA375577230 | AGPAT2 | c.769C>T (p.Leu257Phe) c.673C>T (p.Leu225Phe) n.697C>T | |
9 | g.136673820G>C | CA375577231 | AGPAT2 | c.769C>G (p.Leu257Val) c.673C>G (p.Leu225Val) n.697C>G | |
9 | g.136673820G>T | CA375577233 | AGPAT2 | c.769C>A (p.Leu257Ile) c.673C>A (p.Leu225Ile) n.697C>A | gnomAD v4 |
9 | g.136673821del | CA591367747 | AGPAT2 | c.769del (p.Leu257SerfsTer30) c.673del (p.Leu225SerfsTer30) n.697del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673821G>A | CA467737001 | AGPAT2 | c.768C>T (p.Phe256=) c.672C>T (p.Phe224=) n.696C>T | |
9 | g.136673821G>C | CA375577235 | AGPAT2 | c.768C>G (p.Phe256Leu) c.672C>G (p.Phe224Leu) n.696C>G | |
9 | g.136673821G>T | CA5342824 | AGPAT2 | c.768C>A (p.Phe256Leu) c.672C>A (p.Phe224Leu) n.696C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673822A>C | CA375577238 | AGPAT2 | c.767T>G (p.Phe256Cys) c.671T>G (p.Phe224Cys) n.695T>G | |
9 | g.136673822A>G | CA375577239 | AGPAT2 | c.767T>C (p.Phe256Ser) c.671T>C (p.Phe224Ser) n.695T>C | |
9 | g.136673822A>T | CA375577240 | AGPAT2 | c.767T>A (p.Phe256Tyr) c.671T>A (p.Phe224Tyr) n.695T>A | |
9 | g.136673823A>C | CA375577242 | AGPAT2 | c.766T>G (p.Phe256Val) c.670T>G (p.Phe224Val) n.694T>G | |
9 | g.136673823A>G | CA375577243 | AGPAT2 | c.766T>C (p.Phe256Leu) c.670T>C (p.Phe224Leu) n.694T>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673823A>T | CA375577244 | AGPAT2 | c.766T>A (p.Phe256Ile) c.670T>A (p.Phe224Ile) n.694T>A | |
9 | g.136673824G>A | CA467737002 | AGPAT2 | c.765C>T (p.Thr255=) c.669C>T (p.Thr223=) n.693C>T | dbSNP gnomAD v4 |
9 | g.136673824G>C | CA467737003 | AGPAT2 | c.765C>G (p.Thr255=) c.669C>G (p.Thr223=) n.693C>G | |
9 | g.136673824G>T | CA467737004 | AGPAT2 | c.765C>A (p.Thr255=) c.669C>A (p.Thr223=) n.693C>A | |
9 | g.136673825G>A | CA201626811 | AGPAT2 | c.764C>T (p.Thr255Ile) c.668C>T (p.Thr223Ile) n.692C>T | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673825G>C | CA375577247 | AGPAT2 | c.764C>G (p.Thr255Ser) c.668C>G (p.Thr223Ser) n.692C>G | |
9 | g.136673825G>T | CA375577249 | AGPAT2 | c.764C>A (p.Thr255Asn) c.668C>A (p.Thr223Asn) n.692C>A | |
9 | g.136673826T>A | CA375577252 | AGPAT2 | c.763A>T (p.Thr255Ser) c.667A>T (p.Thr223Ser) n.691A>T | |
9 | g.136673826T>C | CA375577254 | AGPAT2 | c.763A>G (p.Thr255Ala) c.667A>G (p.Thr223Ala) n.691A>G | |
9 | g.136673826T>G | CA375577256 | AGPAT2 | c.763A>C (p.Thr255Pro) c.667A>C (p.Thr223Pro) n.691A>C | |
9 | g.136673829_136673837del | CA16042192 | AGPAT2 | c.755_763del (p.Met252_Thr254del) c.659_667del (p.Met220_Thr222del) n.683_691del | ClinVar dbSNP gnomAD v4 |
9 | g.136673827G>A | CA5342825 | AGPAT2 | c.762C>T (p.Thr254=) c.666C>T (p.Thr222=) n.690C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673827G>C | CA467737005 | AGPAT2 | c.762C>G (p.Thr254=) c.666C>G (p.Thr222=) n.690C>G | |
9 | g.136673827G>T | CA467737006 | AGPAT2 | c.762C>A (p.Thr254=) c.666C>A (p.Thr222=) n.690C>A | gnomAD v4 |
9 | g.136673828G>A | CA5342826 | AGPAT2 | c.761C>T (p.Thr254Ile) c.665C>T (p.Thr222Ile) n.689C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673828G>C | CA375577260 | AGPAT2 | c.761C>G (p.Thr254Ser) c.665C>G (p.Thr222Ser) n.689C>G | dbSNP |
9 | g.136673828G>T | CA201626821 | AGPAT2 | c.761C>A (p.Thr254Asn) c.665C>A (p.Thr222Asn) n.689C>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673829T>A | CA375577263 | AGPAT2 | c.760A>T (p.Thr254Ser) c.664A>T (p.Thr222Ser) n.688A>T | |
9 | g.136673829T>C | CA375577264 | AGPAT2 | c.760A>G (p.Thr254Ala) c.664A>G (p.Thr222Ala) n.688A>G | |
9 | g.136673829T>G | CA375577265 | AGPAT2 | c.760A>C (p.Thr254Pro) c.664A>C (p.Thr222Pro) n.688A>C | |
9 | g.136673830C>A | CA375577267 | AGPAT2 | c.759G>T (p.Arg253Ser) c.663G>T (p.Arg221Ser) n.687G>T | gnomAD v4 |
9 | g.136673830C>G | CA375577269 | AGPAT2 | c.759G>C (p.Arg253Ser) c.663G>C (p.Arg221Ser) n.687G>C | |
9 | g.136673830C>T | CA467737008 | AGPAT2 | c.759G>A (p.Arg253=) c.663G>A (p.Arg221=) n.687G>A | dbSNP |
9 | g.136673831C>A | CA375577271 | AGPAT2 | c.758G>T (p.Arg253Met) c.662G>T (p.Arg221Met) n.686G>T | COSMIC |
9 | g.136673831C>G | CA375577272 | AGPAT2 | c.758G>C (p.Arg253Thr) c.662G>C (p.Arg221Thr) n.686G>C | |
9 | g.136673831C>T | CA5342827 | AGPAT2 | c.758G>A (p.Arg253Lys) c.662G>A (p.Arg221Lys) n.686G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673832T>A | CA375577274 | AGPAT2 | c.757A>T (p.Arg253Trp) c.661A>T (p.Arg221Trp) n.685A>T | |
9 | g.136673832T>C | CA375577273 | AGPAT2 | c.757A>G (p.Arg253Gly) c.661A>G (p.Arg221Gly) n.685A>G | gnomAD v4 |
9 | g.136673832T>G | CA467737009 | AGPAT2 | c.757A>C (p.Arg253=) c.661A>C (p.Arg221=) n.685A>C | |
9 | g.136673833C>A | CA375577276 | AGPAT2 | c.756G>T (p.Met252Ile) c.660G>T (p.Met220Ile) n.684G>T | |
9 | g.136673833C>G | CA375577278 | AGPAT2 | c.756G>C (p.Met252Ile) c.660G>C (p.Met220Ile) n.684G>C | |
9 | g.136673833C>T | CA375577279 | AGPAT2 | c.756G>A (p.Met252Ile) c.660G>A (p.Met220Ile) n.684G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673834_136673840dup | CA2692653754 | AGPAT2 | c.750_756dup (p.Arg253GlyfsTer?) c.654_660dup (p.Arg221GlyfsTer?) n.678_684dup | gnomAD v4 |
9 | g.136673834A>C | CA375577281 | AGPAT2 | c.755T>G (p.Met252Arg) c.659T>G (p.Met220Arg) n.683T>G | |
9 | g.136673834A>G | CA375577283 | AGPAT2 | c.755T>C (p.Met252Thr) c.659T>C (p.Met220Thr) n.683T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673834A>T | CA375577284 | AGPAT2 | c.755T>A (p.Met252Lys) c.659T>A (p.Met220Lys) n.683T>A | |
9 | g.136673835T>A | CA375577285 | AGPAT2 | c.754A>T (p.Met252Leu) c.658A>T (p.Met220Leu) n.682A>T | |
9 | g.136673835T>C | CA5342828 | AGPAT2 | c.754A>G (p.Met252Val) c.658A>G (p.Met220Val) n.682A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.136673835T>G | CA375577288 | AGPAT2 | c.754A>C (p.Met252Leu) c.658A>C (p.Met220Leu) n.682A>C | |
9 | g.136673836G>A | CA467737010 | AGPAT2 | c.753C>T (p.Ala251=) c.657C>T (p.Ala219=) n.681C>T | gnomAD v4 |
9 | g.136673836G>C | CA467737011 | AGPAT2 | c.753C>G (p.Ala251=) c.657C>G (p.Ala219=) n.681C>G | |
9 | g.136673836G>T | CA467737012 | AGPAT2 | c.753C>A (p.Ala251=) c.657C>A (p.Ala219=) n.681C>A | |
9 | g.136673837G>A | CA375577290 | AGPAT2 | c.752C>T (p.Ala251Val) c.656C>T (p.Ala219Val) n.680C>T | gnomAD v4 |
9 | g.136673837G>C | CA375577291 | AGPAT2 | c.752C>G (p.Ala251Gly) c.656C>G (p.Ala219Gly) n.680C>G | |
9 | g.136673837G>T | CA375577292 | AGPAT2 | c.752C>A (p.Ala251Asp) c.656C>A (p.Ala219Asp) n.680C>A | |
9 | g.136673838C>A | CA375577293 | AGPAT2 | c.751G>T (p.Ala251Ser) c.655G>T (p.Ala219Ser) n.679G>T | |
9 | g.136673838C>G | CA375577296 | AGPAT2 | c.751G>C (p.Ala251Pro) c.655G>C (p.Ala219Pro) n.679G>C | |
9 | g.136673838C>T | CA375577294 | AGPAT2 | c.751G>A (p.Ala251Thr) c.655G>A (p.Ala219Thr) n.679G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673839C>A | CA467737013 | AGPAT2 | c.750G>T (p.Arg250=) c.654G>T (p.Arg218=) n.678G>T | |
9 | g.136673839C>G | CA467737014 | AGPAT2 | c.750G>C (p.Arg250=) c.654G>C (p.Arg218=) n.678G>C | |
9 | g.136673839C>T | CA467737015 | AGPAT2 | c.750G>A (p.Arg250=) c.654G>A (p.Arg218=) n.678G>A | |
9 | g.136673840C>A | CA375577298 | AGPAT2 | c.749G>T (p.Arg250Leu) c.653G>T (p.Arg218Leu) n.677G>T | gnomAD v4 |
9 | g.136673840C>G | CA375577301 | AGPAT2 | c.749G>C (p.Arg250Pro) c.653G>C (p.Arg218Pro) n.677G>C | gnomAD v4 |
9 | g.136673840C>T | CA5342829 | AGPAT2 | c.749G>A (p.Arg250Gln) c.653G>A (p.Arg218Gln) n.677G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673842_136673861dup | CA2692653755 | AGPAT2 | c.730_749dup (p.Ala251SerfsTer9) c.634_653dup (p.Ala219SerfsTer9) n.658_677dup | gnomAD v4 |
9 | g.136673841G>A | CA5342830 | AGPAT2 | c.748C>T (p.Arg250Trp) c.652C>T (p.Arg218Trp) n.676C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673841G>C | CA375577306 | AGPAT2 | c.748C>G (p.Arg250Gly) c.652C>G (p.Arg218Gly) n.676C>G | dbSNP |
9 | g.136673841G>T | CA467737016 | AGPAT2 | c.748C>A (p.Arg250=) c.652C>A (p.Arg218=) n.676C>A | gnomAD v4 COSMIC |
9 | g.136673845_136673851dup | CA2579519878 | AGPAT2 | c.742_748dup (p.Arg250LeufsTer?) c.646_652dup (p.Arg218LeufsTer?) n.670_676dup | gnomAD v4 |
9 | g.136673843_136673865dup | CA2692653756 | AGPAT2 | c.726_748dup (p.Arg250LeufsTer11) c.630_652dup (p.Arg218LeufsTer11) n.654_676dup | gnomAD v4 |
9 | g.136673842G>A | CA5342831 | AGPAT2 | c.747C>T (p.His249=) c.651C>T (p.His217=) n.675C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673842G>C | CA375577309 | AGPAT2 | c.747C>G (p.His249Gln) c.651C>G (p.His217Gln) n.675C>G | |
9 | g.136673842G>T | CA375577310 | AGPAT2 | c.747C>A (p.His249Gln) c.651C>A (p.His217Gln) n.675C>A | |
9 | g.136673844_136673852dup | CA591367748 | AGPAT2 | c.739_747dup (p.His249_Arg250insThrCysHis) c.643_651dup (p.His217_Arg218insThrCysHis) n.667_675dup | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673843T>A | CA375577312 | AGPAT2 | c.746A>T (p.His249Leu) c.650A>T (p.His217Leu) n.674A>T | |
9 | g.136673843T>C | CA375577313 | AGPAT2 | c.746A>G (p.His249Arg) c.650A>G (p.His217Arg) n.674A>G | |
9 | g.136673843T>G | CA375577314 | AGPAT2 | c.746A>C (p.His249Pro) c.650A>C (p.His217Pro) n.674A>C | dbSNP |
9 | g.136673844G>A | CA201626841 | AGPAT2 | c.745C>T (p.His249Tyr) c.649C>T (p.His217Tyr) n.673C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673844G>C | CA375577317 | AGPAT2 | c.745C>G (p.His249Asp) c.649C>G (p.His217Asp) n.673C>G | gnomAD v4 |
9 | g.136673844G>T | CA375577319 | AGPAT2 | c.745C>A (p.His249Asn) c.649C>A (p.His217Asn) n.673C>A | |
9 | g.136673844_136673853dup | CA2579519879 | AGPAT2 | c.736_745dup (p.His249ArgfsTer?) c.640_649dup (p.His217ArgfsTer?) n.664_673dup | |
9 | g.136673845G>A | CA201626851 | AGPAT2 | c.744C>T (p.Cys248=) c.648C>T (p.Cys216=) n.672C>T | dbSNP gnomAD v4 |
9 | g.136673845G>C | CA375577321 | AGPAT2 | c.744C>G (p.Cys248Trp) c.648C>G (p.Cys216Trp) n.672C>G | |
9 | g.136673845G>T | CA375577323 | AGPAT2 | c.744C>A (p.Cys248Ter) c.648C>A (p.Cys216Ter) n.672C>A | |
9 | g.136673847_136673860dup | CA2692653757 | AGPAT2 | c.731_744dup (p.His249SerfsTer9) c.635_648dup (p.His217SerfsTer9) n.659_672dup | gnomAD v4 |
9 | g.136673846C>A | CA375577326 | AGPAT2 | c.743G>T (p.Cys248Phe) c.647G>T (p.Cys216Phe) n.671G>T | gnomAD v4 |
9 | g.136673846C>G | CA375577329 | AGPAT2 | c.743G>C (p.Cys248Ser) c.647G>C (p.Cys216Ser) n.671G>C | |
9 | g.136673846C>T | CA375577327 | AGPAT2 | c.743G>A (p.Cys248Tyr) c.647G>A (p.Cys216Tyr) n.671G>A | |
9 | g.136673847_136673853del | CA2579519880 | AGPAT2 | c.737_743del (p.Asp246AlafsTer5) c.641_647del (p.Asp214AlafsTer5) n.665_671del | |
9 | g.136673847_136673868dup | CA2786279702 | AGPAT2 | c.722_743dup (p.His249ProfsTer?) c.626_647dup (p.His217ProfsTer?) n.650_671dup | |
9 | g.136673847A>C | CA375577332 | AGPAT2 | c.742T>G (p.Cys248Gly) c.646T>G (p.Cys216Gly) n.670T>G | dbSNP |
9 | g.136673847A>G | CA375577333 | AGPAT2 | c.742T>C (p.Cys248Arg) c.646T>C (p.Cys216Arg) n.670T>C | gnomAD v4 |
9 | g.136673847A>T | CA375577335 | AGPAT2 | c.742T>A (p.Cys248Ser) c.646T>A (p.Cys216Ser) n.670T>A | |
9 | g.136673847_136673848del | CA2579519881 | AGPAT2 | c.741_742del (p.Cys248ProfsTer?) c.645_646del (p.Cys216ProfsTer?) n.669_670del | |
9 | g.136673848G>A | CA5342832 | AGPAT2 | c.741C>T (p.Thr247=) c.645C>T (p.Thr215=) n.669C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673848G>C | CA467737017 | AGPAT2 | c.741C>G (p.Thr247=) c.645C>G (p.Thr215=) n.669C>G | |
9 | g.136673848G= | CA2580903230 | AGPAT2 | c.741C= (p.Thr247=) c.645C= (p.Thr215=) n.669C= | |
9 | g.136673848G>T | CA467737018 | AGPAT2 | c.741C>A (p.Thr247=) c.645C>A (p.Thr215=) n.669C>A | gnomAD v4 |
9 | g.136673849G>A | CA201626858 | AGPAT2 | c.740C>T (p.Thr247Ile) c.644C>T (p.Thr215Ile) n.668C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.136673849G>C | CA375577338 | AGPAT2 | c.740C>G (p.Thr247Ser) c.644C>G (p.Thr215Ser) n.668C>G | |
9 | g.136673849G>T | CA375577340 | AGPAT2 | c.740C>A (p.Thr247Asn) c.644C>A (p.Thr215Asn) n.668C>A | gnomAD v4 |
9 | g.136673850T>A | CA375577342 | AGPAT2 | c.739A>T (p.Thr247Ser) c.643A>T (p.Thr215Ser) n.667A>T | |
9 | g.136673850T>C | CA375577344 | AGPAT2 | c.739A>G (p.Thr247Ala) c.643A>G (p.Thr215Ala) n.667A>G | gnomAD v4 |
9 | g.136673850T>G | CA375577346 | AGPAT2 | c.739A>C (p.Thr247Pro) c.643A>C (p.Thr215Pro) n.667A>C | dbSNP |
9 | g.136673857_136673858insTTGTCCACG | CA2692653758 | AGPAT2 | c.739_740insACGTGGACA (p.Asp246_Thr247insAsnValAsp) c.643_644insACGTGGACA (p.Asp214_Thr215insAsnValAsp) n.667_668insACGTGGACA | gnomAD v4 |
9 | g.136673851G>A | CA467737019 | AGPAT2 | c.738C>T (p.Asp246=) c.642C>T (p.Asp214=) n.666C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.136673851G>C | CA375577349 | AGPAT2 | c.738C>G (p.Asp246Glu) c.642C>G (p.Asp214Glu) n.666C>G | |
9 | g.136673851G>T | CA375577347 | AGPAT2 | c.738C>A (p.Asp246Glu) c.642C>A (p.Asp214Glu) n.666C>A | |
9 | g.136673851_136673859del | CA2497275506 | AGPAT2 | c.730_738del (p.Leu244_Asp246del) c.634_642del (p.Leu212_Asp214del) n.658_666del | dbSNP |
9 | g.136673852T>A | CA375577350 | AGPAT2 | c.737A>T (p.Asp246Val) c.641A>T (p.Asp214Val) n.665A>T | |
9 | g.136673852T>C | CA375577351 | AGPAT2 | c.737A>G (p.Asp246Gly) c.641A>G (p.Asp214Gly) n.665A>G | gnomAD v4 |
9 | g.136673852T>G | CA375577352 | AGPAT2 | c.737A>C (p.Asp246Ala) c.641A>C (p.Asp214Ala) n.665A>C | |
9 | g.136673853C>A | CA375577354 | AGPAT2 | c.736G>T (p.Asp246Tyr) c.640G>T (p.Asp214Tyr) n.664G>T | |
9 | g.136673853C>G | CA375577356 | AGPAT2 | c.736G>C (p.Asp246His) c.640G>C (p.Asp214His) n.664G>C | |
9 | g.136673853C>T | CA375577358 | AGPAT2 | c.736G>A (p.Asp246Asn) c.640G>A (p.Asp214Asn) n.664G>A | |
9 | g.136673853_136673865dup | CA591367749 | AGPAT2 | c.724_736dup (p.Asp246AlafsTer?) c.628_640dup (p.Asp214AlafsTer?) n.652_664dup | dbSNP gnomAD v2 gnomAD v4 |
9 | g.136673854C>A | CA467737026 | AGPAT2 | c.735G>T (p.Val245=) c.639G>T (p.Val213=) n.663G>T | |
9 | g.136673854C>G | CA467737028 | AGPAT2 | c.735G>C (p.Val245=) c.639G>C (p.Val213=) n.663G>C | |
9 | g.136673854C>T | CA467737030 | AGPAT2 | c.735G>A (p.Val245=) c.639G>A (p.Val213=) n.663G>A | |
9 | g.136673855A>C | CA375577360 | AGPAT2 | c.734T>G (p.Val245Gly) c.638T>G (p.Val213Gly) n.662T>G | dbSNP |
9 | g.136673855A>G | CA375577362 | AGPAT2 | c.734T>C (p.Val245Ala) c.638T>C (p.Val213Ala) n.662T>C | |
9 | g.136673855A>T | CA375577364 | AGPAT2 | c.734T>A (p.Val245Glu) c.638T>A (p.Val213Glu) n.662T>A |