Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.7222579_7222684del | CA2499224900 | ACADVL | c.879-88_896del c.*834-88_*851del c.813-88_830del c.948-88_965del c.597-88_614del n.263-88_280del c.651-88_668del n.986-88_1003del n.938-88_955del | ClinVar dbSNP |
17 | g.7222669_7222672dup | CA8337899 | ACADVL | c.881_884dup (p.Pro296AlafsTer3) c.*836_*839dup (n.*836_*839dup) c.815_818dup (p.Pro274AlafsTer3) c.950_953dup (p.Pro319AlafsTer3) n.30_33dup c.599_602dup n.265_268dup c.653_656dup (p.Pro220AlafsTer3) n.988_991dup n.940_943dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7222669_7222675del | CA2635782963 | ACADVL | c.881_887del (p.Gly294ValfsTer?) c.*836_*842del (n.*836_*842del) c.815_821del (p.Gly272ValfsTer?) c.950_956del (p.Gly317ValfsTer?) n.30_36del c.599_605del n.265_271del c.653_659del (p.Gly218ValfsTer?) n.988_994del n.940_946del | gnomAD v4 |
17 | g.7222675dup | CA2808366076 | ACADVL | c.887dup (p.Glu297Ter) c.*842dup (n.*842dup) c.821dup (p.Glu275Ter) c.956dup (p.Glu320Ter) n.36dup c.605dup n.271dup c.659dup (p.Glu221Ter) n.994dup n.946dup | |
17 | g.7222674_7222675dup | CA2808366077 | ACADVL | c.886_887dup (p.Glu297LeufsTer?) c.*841_*842dup (n.*841_*842dup) c.820_821dup (p.Glu275LeufsTer?) c.955_956dup (p.Glu320LeufsTer?) n.35_36dup c.604_605dup n.270_271dup c.658_659dup (p.Glu221LeufsTer?) n.993_994dup n.945_946dup | |
17 | g.7222675del | CA2635782969 | ACADVL | c.887del (p.Pro296LeufsTer?) c.*842del (n.*842del) c.821del (p.Pro274LeufsTer?) c.956del (p.Pro319LeufsTer?) n.36del c.605del n.271del c.659del (p.Pro220LeufsTer?) n.994del n.946del | gnomAD v4 |
17 | g.7222672C>A | CA397723897 | ACADVL | c.884C>A (p.Pro295His) c.*839C>A (n.*839C>A) c.818C>A (p.Pro273His) c.953C>A (p.Pro318His) n.33C>A c.602C>A n.268C>A c.656C>A (p.Pro219His) n.991C>A n.943C>A | |
17 | g.7222672C>G | CA397723898 | ACADVL | c.884C>G (p.Pro295Arg) c.*839C>G (n.*839C>G) c.818C>G (p.Pro273Arg) c.953C>G (p.Pro318Arg) n.33C>G c.602C>G n.268C>G c.656C>G (p.Pro219Arg) n.991C>G n.943C>G | |
17 | g.7222672C>T | CA397723899 | ACADVL | c.884C>T (p.Pro295Leu) c.*839C>T (n.*839C>T) c.818C>T (p.Pro273Leu) c.953C>T (p.Pro318Leu) n.33C>T c.602C>T n.268C>T c.656C>T (p.Pro219Leu) n.991C>T n.943C>T | |
17 | g.7222673C>A | CA497620163 | ACADVL | c.885C>A (p.Pro295=) c.*840C>A (n.*840C>A) c.819C>A (p.Pro273=) c.954C>A (p.Pro318=) n.34C>A c.603C>A n.269C>A c.657C>A (p.Pro219=) n.992C>A n.944C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.7222673C= | CA2245709159 | ACADVL | c.885C= (p.Pro295=) c.*840C= (n.*840C=) c.819C= (p.Pro273=) c.954C= (p.Pro318=) n.34C= c.603C= n.269C= c.657C= (p.Pro219=) n.992C= n.944C= | |
17 | g.7222673C>G | CA497620164 | ACADVL | c.885C>G (p.Pro295=) c.*840C>G (n.*840C>G) c.819C>G (p.Pro273=) c.954C>G (p.Pro318=) n.34C>G c.603C>G n.269C>G c.657C>G (p.Pro219=) n.992C>G n.944C>G | |
17 | g.7222673C>T | CA497620165 | ACADVL | c.885C>T (p.Pro295=) c.*840C>T (n.*840C>T) c.819C>T (p.Pro273=) c.954C>T (p.Pro318=) n.34C>T c.603C>T n.269C>T c.657C>T (p.Pro219=) n.992C>T n.944C>T | dbSNP |
17 | g.7222673_7222676delinsCCCT | CA2245709160 | ACADVL | c.885_888delinsCCCT (p.Pro295=) c.*840_*843delinsCCCT (n.*840_*843delinsCCCT) c.819_822delinsCCCT (p.Pro273=) c.954_957delinsCCCT (p.Pro318=) n.34_37delinsCCCT c.603_606delinsCCCT n.269_272delinsCCCT c.657_660delinsCCCT (p.Pro219=) n.992_995delinsCCCT n.944_947delinsCCCT | |
17 | g.7222674C>A | CA397723900 | ACADVL | c.886C>A (p.Pro296Thr) c.*841C>A (n.*841C>A) c.820C>A (p.Pro274Thr) c.955C>A (p.Pro319Thr) n.35C>A c.604C>A n.270C>A c.658C>A (p.Pro220Thr) n.993C>A n.945C>A | |
17 | g.7222674C= | CA2245709165 | ACADVL | c.886C= (p.Pro296=) c.*841C= (n.*841C=) c.820C= (p.Pro274=) c.955C= (p.Pro319=) n.35C= c.604C= n.270C= c.658C= (p.Pro220=) n.993C= n.945C= | |
17 | g.7222674C>G | CA397723901 | ACADVL | c.886C>G (p.Pro296Ala) c.*841C>G (n.*841C>G) c.820C>G (p.Pro274Ala) c.955C>G (p.Pro319Ala) n.35C>G c.604C>G n.270C>G c.658C>G (p.Pro220Ala) n.993C>G n.945C>G | |
17 | g.7222674C>T | CA287437473 | ACADVL | c.886C>T (p.Pro296Ser) c.*841C>T (n.*841C>T) c.820C>T (p.Pro274Ser) c.955C>T (p.Pro319Ser) n.35C>T c.604C>T n.270C>T c.658C>T (p.Pro220Ser) n.993C>T n.945C>T | ClinVar dbSNP gnomAD v4 |
17 | g.7222674_7222676del | CA624861257 | ACADVL | c.886_888del (p.Pro296del) c.*841_*843del (n.*841_*843del) c.820_822del (p.Pro274del) c.955_957del (p.Pro319del) n.35_37del c.604_606del n.270_272del c.658_660del (p.Pro220del) n.993_995del n.945_947del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.7222674_7222676delinsCCT | CA2245709168 | ACADVL | c.886_888delinsCCT (p.Pro296=) c.*841_*843delinsCCT (n.*841_*843delinsCCT) c.820_822delinsCCT (p.Pro274=) c.955_957delinsCCT (p.Pro319=) n.35_37delinsCCT c.604_606delinsCCT n.270_272delinsCCT c.658_660delinsCCT (p.Pro220=) n.993_995delinsCCT n.945_947delinsCCT | |
17 | g.7222675C>A | CA397723904 | ACADVL | c.887C>A (p.Pro296His) c.*842C>A (n.*842C>A) c.821C>A (p.Pro274His) c.956C>A (p.Pro319His) n.36C>A c.605C>A n.271C>A c.659C>A (p.Pro220His) n.994C>A n.946C>A | |
17 | g.7222675C= | CA2245709172 | ACADVL | c.887C= (p.Pro296=) c.*842C= (n.*842C=) c.821C= (p.Pro274=) c.956C= (p.Pro319=) n.36C= c.605C= n.271C= c.659C= (p.Pro220=) n.994C= n.946C= | |
17 | g.7222675C>G | CA397723902 | ACADVL | c.887C>G (p.Pro296Arg) c.*842C>G (n.*842C>G) c.821C>G (p.Pro274Arg) c.956C>G (p.Pro319Arg) n.36C>G c.605C>G n.271C>G c.659C>G (p.Pro220Arg) n.994C>G n.946C>G | dbSNP |
17 | g.7222675C>T | CA397723903 | ACADVL | c.887C>T (p.Pro296Leu) c.*842C>T (n.*842C>T) c.821C>T (p.Pro274Leu) c.956C>T (p.Pro319Leu) n.36C>T c.605C>T n.271C>T c.659C>T (p.Pro220Leu) n.994C>T n.946C>T | ClinVar |
17 | g.7222675_7222676del | CA274249 | ACADVL | c.887_888del (p.Pro296ArgfsTer17) c.*842_*843del (n.*842_*843del) c.821_822del (p.Pro274ArgfsTer17) c.956_957del (p.Pro319ArgfsTer17) n.36_37del c.605_606del n.271_272del c.659_660del (p.Pro220ArgfsTer17) n.994_995del n.946_947del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7222675_7222676dup | CA2245709171 | ACADVL | c.887_888dup (p.Glu297LeufsTer?) c.*842_*843dup (n.*842_*843dup) c.821_822dup (p.Glu275LeufsTer?) c.956_957dup (p.Glu320LeufsTer?) n.36_37dup c.605_606dup n.271_272dup c.659_660dup (p.Glu221LeufsTer?) n.994_995dup n.946_947dup | dbSNP |
17 | g.7222676T>A | CA497620166 | ACADVL | c.888T>A (p.Pro296=) c.*843T>A (n.*843T>A) c.822T>A (p.Pro274=) c.957T>A (p.Pro319=) n.37T>A c.606T>A n.272T>A c.660T>A (p.Pro220=) n.995T>A n.947T>A | |
17 | g.7222676T>C | CA497620167 | ACADVL | c.888T>C (p.Pro296=) c.*843T>C (n.*843T>C) c.822T>C (p.Pro274=) c.957T>C (p.Pro319=) n.37T>C c.606T>C n.272T>C c.660T>C (p.Pro220=) n.995T>C n.947T>C | COSMIC |
17 | g.7222676T>G | CA497620168 | ACADVL | c.888T>G (p.Pro296=) c.*843T>G (n.*843T>G) c.822T>G (p.Pro274=) c.957T>G (p.Pro319=) n.37T>G c.606T>G n.272T>G c.660T>G (p.Pro220=) n.995T>G n.947T>G | |
17 | g.7222676_7222677del | CA397723905 | ACADVL | c.888_889del (p.Lys298GlufsTer15) c.*843_*844del (n.*843_*844del) c.822_823del (p.Lys276GlufsTer15) c.957_958del (p.Lys321GlufsTer15) n.37_38del c.606_607del n.272_273del c.660_661del (p.Lys222GlufsTer15) n.995_996del n.947_948del | |
17 | g.7222676_7222679delinsTGAG | CA2245709183 | ACADVL | c.888_891delinsTGAG (p.Pro296=) c.*843_*846delinsTGAG (n.*843_*846delinsTGAG) c.822_825delinsTGAG (p.Pro274=) c.957_960delinsTGAG (p.Pro319=) n.37_40delinsTGAG c.606_609delinsTGAG n.272_275delinsTGAG c.660_663delinsTGAG (p.Pro220=) n.995_998delinsTGAG n.947_950delinsTGAG | |
17 | g.7222677G>A | CA397723906 | ACADVL | c.889G>A (p.Glu297Lys) c.*844G>A (n.*844G>A) c.823G>A (p.Glu275Lys) c.958G>A (p.Glu320Lys) n.38G>A c.607G>A n.273G>A c.661G>A (p.Glu221Lys) n.996G>A n.948G>A | ClinVar dbSNP |
17 | g.7222677G>C | CA397723907 | ACADVL | c.889G>C (p.Glu297Gln) c.*844G>C (n.*844G>C) c.823G>C (p.Glu275Gln) c.958G>C (p.Glu320Gln) n.38G>C c.607G>C n.273G>C c.661G>C (p.Glu221Gln) n.996G>C n.948G>C | |
17 | g.7222677G= | CA2245709193 | ACADVL | c.889G= (p.Glu297=) c.*844G= (n.*844G=) c.823G= (p.Glu275=) c.958G= (p.Glu320=) n.38G= c.607G= n.273G= c.661G= (p.Glu221=) n.996G= n.948G= | |
17 | g.7222677G>T | CA397723908 | ACADVL | c.889G>T (p.Glu297Ter) c.*844G>T (n.*844G>T) c.823G>T (p.Glu275Ter) c.958G>T (p.Glu320Ter) n.38G>T c.607G>T n.273G>T c.661G>T (p.Glu221Ter) n.996G>T n.948G>T | |
17 | g.7222677_7222679del | CA312285 | ACADVL | c.889_891del (p.Glu297del) c.*844_*846del (n.*844_*846del) c.823_825del (p.Glu275del) c.958_960del (p.Glu320del) n.38_40del c.607_609del n.273_275del c.661_663del (p.Glu221del) n.996_998del n.948_950del | ClinVar dbSNP gnomAD v4 |
17 | g.7222677_7222680delinsGAGA | CA2245709190 | ACADVL | c.889_892delinsGAGA (p.Glu297=) c.*844_*847delinsGAGA (n.*844_*847delinsGAGA) c.823_826delinsGAGA (p.Glu275=) c.958_961delinsGAGA (p.Glu320=) n.38_41delinsGAGA c.607_610delinsGAGA n.273_276delinsGAGA c.661_664delinsGAGA (p.Glu221=) n.996_999delinsGAGA n.948_951delinsGAGA | |
17 | g.7222678A>C | CA397723909 | ACADVL | c.890A>C (p.Glu297Ala) c.*845A>C (n.*845A>C) c.824A>C (p.Glu275Ala) c.959A>C (p.Glu320Ala) n.39A>C c.608A>C n.274A>C c.662A>C (p.Glu221Ala) n.997A>C n.949A>C | |
17 | g.7222678A>G | CA397723911 | ACADVL | c.890A>G (p.Glu297Gly) c.*845A>G (n.*845A>G) c.824A>G (p.Glu275Gly) c.959A>G (p.Glu320Gly) n.39A>G c.608A>G n.274A>G c.662A>G (p.Glu221Gly) n.997A>G n.949A>G | |
17 | g.7222678A>T | CA397723910 | ACADVL | c.890A>T (p.Glu297Val) c.*845A>T (n.*845A>T) c.824A>T (p.Glu275Val) c.959A>T (p.Glu320Val) n.39A>T c.608A>T n.274A>T c.662A>T (p.Glu221Val) n.997A>T n.949A>T | |
17 | g.7222678_7222679delinsAG | CA2245709207 | ACADVL | c.890_891delinsAG (p.Glu297=) c.*845_*846delinsAG (n.*845_*846delinsAG) c.824_825delinsAG (p.Glu275=) c.959_960delinsAG (p.Glu320=) n.39_40delinsAG c.608_609delinsAG n.274_275delinsAG c.662_663delinsAG (p.Glu221=) n.997_998delinsAG n.949_950delinsAG | |
17 | g.7222684_7222686del | CA220223 | ACADVL | c.896_898del (p.Lys299del) c.*851_*853del (n.*851_*853del) c.830_832del (p.Lys277del) c.965_967del (p.Lys322del) n.45_47del c.614_616del n.280_282del c.668_670del (p.Lys223del) n.1003_1005del n.955_957del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7222679del | CA16041863 | ACADVL | c.891del (p.Lys298ArgfsTer?) c.*846del (n.*846del) c.825del (p.Lys276ArgfsTer?) c.960del (p.Lys321ArgfsTer?) n.40del c.609del n.275del c.663del (p.Lys222ArgfsTer?) n.998del n.950del | ClinVar dbSNP |
17 | g.7222679G>A | CA497620169 | ACADVL | c.891G>A (p.Glu297=) c.*846G>A (n.*846G>A) c.825G>A (p.Glu275=) c.960G>A (p.Glu320=) n.40G>A c.609G>A n.275G>A c.663G>A (p.Glu221=) n.998G>A n.950G>A | ClinVar gnomAD v4 |
17 | g.7222679G>C | CA397723912 | ACADVL | c.891G>C (p.Glu297Asp) c.*846G>C (n.*846G>C) c.825G>C (p.Glu275Asp) c.960G>C (p.Glu320Asp) n.40G>C c.609G>C n.275G>C c.663G>C (p.Glu221Asp) n.998G>C n.950G>C | ClinVar dbSNP gnomAD v4 |
17 | g.7222679G= | CA2245709219 | ACADVL | c.891G= (p.Glu297=) c.*846G= (n.*846G=) c.825G= (p.Glu275=) c.960G= (p.Glu320=) n.40G= c.609G= n.275G= c.663G= (p.Glu221=) n.998G= n.950G= | |
17 | g.7222679G>T | CA397723913 | ACADVL | c.891G>T (p.Glu297Asp) c.*846G>T (n.*846G>T) c.825G>T (p.Glu275Asp) c.960G>T (p.Glu320Asp) n.40G>T c.609G>T n.275G>T c.663G>T (p.Glu221Asp) n.998G>T n.950G>T | |
17 | g.7222680A= | CA2245709224 | ACADVL | c.892A= (p.Lys298=) c.*847A= (n.*847A=) c.826A= (p.Lys276=) c.961A= (p.Lys321=) n.41A= c.610A= n.276A= c.664A= (p.Lys222=) n.999A= n.951A= | |
17 | g.7222680A>C | CA397723914 | ACADVL | c.892A>C (p.Lys298Gln) c.*847A>C (n.*847A>C) c.826A>C (p.Lys276Gln) c.961A>C (p.Lys321Gln) n.41A>C c.610A>C n.276A>C c.664A>C (p.Lys222Gln) n.999A>C n.951A>C | |
17 | g.7222680A>G | CA397723915 | ACADVL | c.892A>G (p.Lys298Glu) c.*847A>G (n.*847A>G) c.826A>G (p.Lys276Glu) c.961A>G (p.Lys321Glu) n.41A>G c.610A>G n.276A>G c.664A>G (p.Lys222Glu) n.999A>G n.951A>G |