Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.120737080_120737083delinsTGGA | CA2067553242 | ACADS | c.305_308delinsTGGA (p.Met102=) n.417_420delinsTGGA | |
12 | g.120737085_120737087del | CA252884 | ACADS | c.310_312del (p.Glu104del) n.422_424del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737082G>A | CA386614119 | ACADS | c.307G>A (p.Glu103Lys) n.419G>A | gnomAD v4 |
12 | g.120737082G>C | CA386614120 | ACADS | c.307G>C (p.Glu103Gln) n.419G>C | |
12 | g.120737082G>T | CA386614121 | ACADS | c.307G>T (p.Glu103Ter) n.419G>T | |
12 | g.120737083A= | CA2067553248 | ACADS | c.308A= (p.Glu103=) n.420A= | |
12 | g.120737083A>C | CA386614122 | ACADS | c.308A>C (p.Glu103Ala) n.420A>C | |
12 | g.120737083A>G | CA6830821 | ACADS | c.308A>G (p.Glu103Gly) n.420A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737083A>T | CA386614123 | ACADS | c.308A>T (p.Glu103Val) n.420A>T | |
12 | g.120737084G>A | CA482146403 | ACADS | c.309G>A (p.Glu103=) n.421G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737084G>C | CA386614124 | ACADS | c.309G>C (p.Glu103Asp) n.421G>C | |
12 | g.120737084G= | CA2067553250 | ACADS | c.309G= (p.Glu103=) n.421G= | |
12 | g.120737084G>T | CA386614125 | ACADS | c.309G>T (p.Glu103Asp) n.421G>T | |
12 | g.120737085G>A | CA386614126 | ACADS | c.310G>A (p.Glu104Lys) n.422G>A | gnomAD v4 |
12 | g.120737085G>C | CA386614127 | ACADS | c.310G>C (p.Glu104Gln) n.422G>C | |
12 | g.120737085G>T | CA386614128 | ACADS | c.310G>T (p.Glu104Ter) n.422G>T | |
12 | g.120737086A>C | CA386614131 | ACADS | c.311A>C (p.Glu104Ala) n.423A>C | |
12 | g.120737086A>G | CA386614129 | ACADS | c.311A>G (p.Glu104Gly) n.423A>G | |
12 | g.120737086A>T | CA386614130 | ACADS | c.311A>T (p.Glu104Val) n.423A>T | |
12 | g.120737087G>A | CA482146407 | ACADS | c.312G>A (p.Glu104=) n.424G>A | gnomAD v4 |
12 | g.120737087G>C | CA386614132 | ACADS | c.312G>C (p.Glu104Asp) n.424G>C | |
12 | g.120737087G= | CA2067553252 | ACADS | c.312G= (p.Glu104=) n.424G= | |
12 | g.120737087G>T | CA6830822 | ACADS | c.312G>T (p.Glu104Asp) n.424G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737088A= | CA2067553255 | ACADS | c.313A= (p.Ile105=) n.425A= | |
12 | g.120737088A>C | CA6830823 | ACADS | c.313A>C (p.Ile105Leu) n.425A>C | dbSNP ExAC |
12 | g.120737088A>G | CA386614133 | ACADS | c.313A>G (p.Ile105Val) n.425A>G | gnomAD v4 |
12 | g.120737088A>T | CA386614134 | ACADS | c.313A>T (p.Ile105Phe) n.425A>T | ClinVar dbSNP |
12 | g.120737089T>A | CA244521567 | ACADS | c.314T>A (p.Ile105Asn) n.426T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.120737089T>C | CA386614135 | ACADS | c.314T>C (p.Ile105Thr) n.426T>C | |
12 | g.120737089T>G | CA386614136 | ACADS | c.314T>G (p.Ile105Ser) n.426T>G | |
12 | g.120737089T= | CA2067553261 | ACADS | c.314T= (p.Ile105=) n.426T= | |
12 | g.120737089_120737090delinsTC | CA2067553259 | ACADS | c.314_315delinsTC (p.Ile105=) n.426_427delinsTC | |
12 | g.120737090del | CA16041565 | ACADS | c.315del (p.Ser106AlafsTer11) n.427del | ClinVar dbSNP gnomAD v4 |
12 | g.120737090C>A | CA482146409 | ACADS | c.315C>A (p.Ile105=) n.427C>A | gnomAD v4 |
12 | g.120737090C= | CA2067553265 | ACADS | c.315C= (p.Ile105=) n.427C= | |
12 | g.120737090C>G | CA386614137 | ACADS | c.315C>G (p.Ile105Met) n.427C>G | |
12 | g.120737090C>T | CA482146410 | ACADS | c.315C>T (p.Ile105=) n.427C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737091A>C | CA386614140 | ACADS | c.316A>C (p.Ser106Arg) n.428A>C | |
12 | g.120737091A>G | CA386614139 | ACADS | c.316A>G (p.Ser106Gly) n.428A>G | gnomAD v4 |
12 | g.120737091A>T | CA386614138 | ACADS | c.316A>T (p.Ser106Cys) n.428A>T | |
12 | g.120737092G>A | CA386614141 | ACADS | c.317G>A (p.Ser106Asn) n.429G>A | |
12 | g.120737092G>C | CA386614142 | ACADS | c.317G>C (p.Ser106Thr) n.429G>C | |
12 | g.120737092G= | CA2067553267 | ACADS | c.317G= (p.Ser106=) n.429G= | |
12 | g.120737092G>T | CA386614143 | ACADS | c.317G>T (p.Ser106Ile) n.429G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737093C>A | CA386614144 | ACADS | c.318C>A (p.Ser106Arg) n.430C>A | gnomAD v4 |
12 | g.120737093C>G | CA386614145 | ACADS | c.318C>G (p.Ser106Arg) n.430C>G | |
12 | g.120737093C>T | CA482146411 | ACADS | c.318C>T (p.Ser106=) n.430C>T | gnomAD v4 |
12 | g.120737094C>A | CA386614146 | ACADS | c.319C>A (p.Arg107Ser) n.431C>A | |
12 | g.120737094C= | CA2067553271 | ACADS | c.319C= (p.Arg107=) n.431C= | |
12 | g.120737094C>G | CA386614147 | ACADS | c.319C>G (p.Arg107Gly) n.431C>G | |
12 | g.120737094C>T | CA312209 | ACADS | c.319C>T (p.Arg107Cys) n.431C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737094_120737096delinsCGT | CA2067553274 | ACADS | c.319_321delinsCGT (p.Arg107=) n.431_433delinsCGT | |
12 | g.120737094_120737096delinsTGC | CA16619448 | ACADS | c.319_321delinsTGC (p.Arg107Cys) n.431_433delinsTGC | ClinVar dbSNP |
12 | g.120737095G>A | CA6830824 | ACADS | c.320G>A (p.Arg107His) n.432G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737095G>C | CA386614148 | ACADS | c.320G>C (p.Arg107Pro) n.432G>C | |
12 | g.120737095G= | CA2067553277 | ACADS | c.320G= (p.Arg107=) n.432G= | |
12 | g.120737095G>T | CA386614149 | ACADS | c.320G>T (p.Arg107Leu) n.432G>T | |
12 | g.120737095_120737096delinsAC | CA2739277342 | ACADS | c.320_321delinsAC (p.Arg107His) n.432_433delinsAC | ClinVar |
12 | g.120737096T>A | CA482146415 | ACADS | c.321T>A (p.Arg107=) n.433T>A | |
12 | g.120737096T>C | CA289253 | ACADS | c.321T>C (p.Arg107=) n.433T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737096T>G | CA482146416 | ACADS | c.321T>G (p.Arg107=) n.433T>G | |
12 | g.120737096T= | CA2067553280 | ACADS | c.321T= (p.Arg107=) n.433T= | |
12 | g.120737096_120737097delinsCA | CA1139662938 | ACADS | c.321_322delinsCA (p.Gly108Ser) n.433_434delinsCA | ClinVar |
12 | g.120737097G>A | CA6830825 | ACADS | c.322G>A (p.Gly108Ser) n.434G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737097G>C | CA386614151 | ACADS | c.322G>C (p.Gly108Arg) n.434G>C | |
12 | g.120737097G= | CA2067553283 | ACADS | c.322G= (p.Gly108=) n.434G= | |
12 | g.120737097G>T | CA386614150 | ACADS | c.322G>T (p.Gly108Cys) n.434G>T | gnomAD v4 |
12 | g.120737098G>A | CA259861 | ACADS | c.323G>A (p.Gly108Asp) n.435G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737098G>C | CA386614152 | ACADS | c.323G>C (p.Gly108Ala) n.435G>C | gnomAD v4 |
12 | g.120737098G= | CA2067553287 | ACADS | c.323G= (p.Gly108=) n.435G= | |
12 | g.120737098G>T | CA386614153 | ACADS | c.323G>T (p.Gly108Val) n.435G>T | gnomAD v4 |
12 | g.120737099C>A | CA482146420 | ACADS | c.324C>A (p.Gly108=) n.436C>A | gnomAD v4 |
12 | g.120737099C= | CA2067553290 | ACADS | c.324C= (p.Gly108=) n.436C= | |
12 | g.120737099C>G | CA482146421 | ACADS | c.324C>G (p.Gly108=) n.436C>G | |
12 | g.120737099C>T | CA482146422 | ACADS | c.324C>T (p.Gly108=) n.436C>T | dbSNP |
12 | g.120737100T>A | CA386614154 | ACADS | c.325T>A (p.Cys109Ser) n.437T>A | |
12 | g.120737100T>C | CA386614155 | ACADS | c.325T>C (p.Cys109Arg) n.437T>C | |
12 | g.120737100T>G | CA386614156 | ACADS | c.325T>G (p.Cys109Gly) n.437T>G | |
12 | g.120737100_120737103del | CA912973551 | ACADS | c.325_328del (p.Cys109ProfsTer7) n.437_440del | |
12 | g.120737100_120737103delinsTGCG | CA2067553292 | ACADS | c.325_328delinsTGCG (p.Cys109=) n.437_440delinsTGCG | |
12 | g.120737101G>A | CA386614157 | ACADS | c.326G>A (p.Cys109Tyr) n.438G>A | gnomAD v4 |
12 | g.120737101G>C | CA386614158 | ACADS | c.326G>C (p.Cys109Ser) n.438G>C | |
12 | g.120737101G>T | CA386614159 | ACADS | c.326G>T (p.Cys109Phe) n.438G>T | gnomAD v4 |
12 | g.120737101_120737103del | CA608059761 | ACADS | c.326_328del (p.Cys109_Ala110delinsSer) n.438_440del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737102C>A | CA386614160 | ACADS | c.327C>A (p.Cys109Ter) n.439C>A | gnomAD v4 |
12 | g.120737102C= | CA2067553298 | ACADS | c.327C= (p.Cys109=) n.439C= | |
12 | g.120737102C>G | CA386614161 | ACADS | c.327C>G (p.Cys109Trp) n.439C>G | |
12 | g.120737102C>T | CA6830826 | ACADS | c.327C>T (p.Cys109=) n.439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.120737102_120737103insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG | CA2621366394 | ACADS | c.327_328insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG (p.Ala110SerfsTer23) n.439_440insAGTCAGAGGGCAGAGAAGCTGGGAAGGAGATGGCCAGTGTGTGGAAG | gnomAD v4 |
12 | g.120737103G>A | CA6830827 | ACADS | c.328G>A (p.Ala110Thr) n.440G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737103G>C | CA386614163 | ACADS | c.328G>C (p.Ala110Pro) n.440G>C | |
12 | g.120737103G= | CA2067553301 | ACADS | c.328G= (p.Ala110=) n.440G= | |
12 | g.120737103G>T | CA386614162 | ACADS | c.328G>T (p.Ala110Ser) n.440G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737104C>A | CA386614164 | ACADS | c.329C>A (p.Ala110Asp) n.441C>A | gnomAD v4 |
12 | g.120737104C= | CA2067553304 | ACADS | c.329C= (p.Ala110=) n.441C= | |
12 | g.120737104C>G | CA386614165 | ACADS | c.329C>G (p.Ala110Gly) n.441C>G | gnomAD v4 |
12 | g.120737104C>T | CA386614166 | ACADS | c.329C>T (p.Ala110Val) n.441C>T | dbSNP gnomAD v2 |
12 | g.120737105C>A | CA482146427 | ACADS | c.330C>A (p.Ala110=) n.442C>A | gnomAD v4 |
12 | g.120737105C>G | CA482146428 | ACADS | c.330C>G (p.Ala110=) n.442C>G | |
12 | g.120737105C>T | CA482146429 | ACADS | c.330C>T (p.Ala110=) n.442C>T | |
12 | g.120737106T>A | CA386614167 | ACADS | c.331T>A (p.Ser111Thr) n.443T>A | gnomAD v4 |
12 | g.120737106T>C | CA386614168 | ACADS | c.331T>C (p.Ser111Pro) n.443T>C | |
12 | g.120737106T>G | CA386614169 | ACADS | c.331T>G (p.Ser111Ala) n.443T>G | |
12 | g.120737107C>A | CA386614170 | ACADS | c.332C>A (p.Ser111Tyr) n.444C>A | |
12 | g.120737107C= | CA2067553307 | ACADS | c.332C= (p.Ser111=) n.444C= | |
12 | g.120737107C>G | CA386614171 | ACADS | c.332C>G (p.Ser111Cys) n.444C>G | |
12 | g.120737107C>T | CA312210 | ACADS | c.332C>T (p.Ser111Phe) n.444C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737108C>A | CA482146434 | ACADS | c.333C>A (p.Ser111=) n.445C>A | gnomAD v4 |
12 | g.120737108C>G | CA482146433 | ACADS | c.333C>G (p.Ser111=) n.445C>G | |
12 | g.120737108C>T | CA482146432 | ACADS | c.333C>T (p.Ser111=) n.445C>T | gnomAD v4 |
12 | g.120737109A>C | CA386614172 | ACADS | c.334A>C (p.Thr112Pro) n.446A>C | |
12 | g.120737109A>G | CA386614173 | ACADS | c.334A>G (p.Thr112Ala) n.446A>G | |
12 | g.120737109A>T | CA386614174 | ACADS | c.334A>T (p.Thr112Ser) n.446A>T | |
12 | g.120737110C>A | CA386614175 | ACADS | c.335C>A (p.Thr112Asn) n.447C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737110C= | CA2067553311 | ACADS | c.335C= (p.Thr112=) n.447C= | |
12 | g.120737110C>G | CA386614177 | ACADS | c.335C>G (p.Thr112Ser) n.447C>G | |
12 | g.120737110C>T | CA386614176 | ACADS | c.335C>T (p.Thr112Ile) n.447C>T | gnomAD v4 |
12 | g.120737111C>A | CA482146439 | ACADS | c.336C>A (p.Thr112=) n.448C>A | gnomAD v4 |
12 | g.120737111C= | CA2067553313 | ACADS | c.336C= (p.Thr112=) n.448C= | |
12 | g.120737111C>G | CA482146438 | ACADS | c.336C>G (p.Thr112=) n.448C>G | gnomAD v4 |
12 | g.120737111C>T | CA6830828 | ACADS | c.336C>T (p.Thr112=) n.448C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737112G>A | CA6830829 | ACADS | c.337G>A (p.Gly113Arg) n.449G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.120737112G>C | CA386614178 | ACADS | c.337G>C (p.Gly113Arg) n.449G>C | gnomAD v4 |
12 | g.120737112G= | CA2067553318 | ACADS | c.337G= (p.Gly113=) n.449G= | |
12 | g.120737112G>T | CA386614179 | ACADS | c.337G>T (p.Gly113Ter) n.449G>T | gnomAD v4 |
12 | g.120737113G>A | CA386614180 | ACADS | c.338G>A (p.Gly113Glu) n.450G>A | dbSNP gnomAD v2 |
12 | g.120737113G>C | CA386614181 | ACADS | c.338G>C (p.Gly113Ala) n.450G>C | |
12 | g.120737113G= | CA2067553323 | ACADS | c.338G= (p.Gly113=) n.450G= | |
12 | g.120737113G>T | CA386614182 | ACADS | c.338G>T (p.Gly113Val) n.450G>T | gnomAD v4 |
12 | g.120737114A= | CA2067553325 | ACADS | c.339A= (p.Gly113=) n.451A= | |
12 | g.120737114A>C | CA482146440 | ACADS | c.339A>C (p.Gly113=) n.451A>C | |
12 | g.120737114A>G | CA482146442 | ACADS | c.339A>G (p.Gly113=) n.451A>G | dbSNP |
12 | g.120737114A>T | CA482146441 | ACADS | c.339A>T (p.Gly113=) n.451A>T | |
12 | g.120737115G>A | CA386614183 | ACADS | c.340G>A (p.Val114Ile) n.452G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737115G>C | CA386614184 | ACADS | c.340G>C (p.Val114Leu) n.452G>C | |
12 | g.120737115G= | CA2067553328 | ACADS | c.340G= (p.Val114=) n.452G= | |
12 | g.120737115G>T | CA386614185 | ACADS | c.340G>T (p.Val114Phe) n.452G>T | gnomAD v4 |
12 | g.120737116T>A | CA386614186 | ACADS | c.341T>A (p.Val114Asp) n.453T>A | |
12 | g.120737116T>C | CA6830830 | ACADS | c.341T>C (p.Val114Ala) n.453T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737116T>G | CA386614187 | ACADS | c.341T>G (p.Val114Gly) n.453T>G | |
12 | g.120737116T= | CA2067553330 | ACADS | c.341T= (p.Val114=) n.453T= | |
12 | g.120737117C>A | CA482146444 | ACADS | c.342C>A (p.Val114=) n.454C>A | gnomAD v4 |
12 | g.120737117C>G | CA482146445 | ACADS | c.342C>G (p.Val114=) n.454C>G | |
12 | g.120737117C>T | CA482146446 | ACADS | c.342C>T (p.Val114=) n.454C>T | gnomAD v4 |
12 | g.120737118A= | CA2067553331 | ACADS | c.343A= (p.Ile115=) n.455A= | |
12 | g.120737118A>C | CA386614190 | ACADS | c.343A>C (p.Ile115Leu) n.455A>C | |
12 | g.120737118A>G | CA386614189 | ACADS | c.343A>G (p.Ile115Val) n.455A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120737118A>T | CA386614188 | ACADS | c.343A>T (p.Ile115Phe) n.455A>T | |
12 | g.120737118dup | CA952542809 | ACADS | c.343dup (p.Ile115AsnfsTer?) n.455dup | gnomAD v3 gnomAD v4 |
12 | g.120737119T>A | CA386614191 | ACADS | c.344T>A (p.Ile115Asn) n.456T>A | |
12 | g.120737119T>C | CA386614192 | ACADS | c.344T>C (p.Ile115Thr) n.456T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737119T>G | CA386614193 | ACADS | c.344T>G (p.Ile115Ser) n.456T>G | |
12 | g.120737119T= | CA2067553336 | ACADS | c.344T= (p.Ile115=) n.456T= | |
12 | g.120737120C>A | CA482146448 | ACADS | c.345C>A (p.Ile115=) n.457C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737120C= | CA2067553338 | ACADS | c.345C= (p.Ile115=) n.457C= | |
12 | g.120737120C>G | CA386614194 | ACADS | c.345C>G (p.Ile115Met) n.457C>G | gnomAD v4 |
12 | g.120737120C>T | CA482146449 | ACADS | c.345C>T (p.Ile115=) n.457C>T | |
12 | g.120737121A>C | CA386614195 | ACADS | c.346A>C (p.Met116Leu) n.458A>C | |
12 | g.120737121A>G | CA386614196 | ACADS | c.346A>G (p.Met116Val) n.458A>G | |
12 | g.120737121A>T | CA386614197 | ACADS | c.346A>T (p.Met116Leu) n.458A>T | gnomAD v4 |
12 | g.120737122T>A | CA386614198 | ACADS | c.347T>A (p.Met116Lys) n.459T>A | |
12 | g.120737122T>C | CA386614199 | ACADS | c.347T>C (p.Met116Thr) n.459T>C | ClinVar dbSNP gnomAD v4 |
12 | g.120737122T>G | CA386614200 | ACADS | c.347T>G (p.Met116Arg) n.459T>G | |
12 | g.120737122T= | CA2067553341 | ACADS | c.347T= (p.Met116=) n.459T= | |
12 | g.120737123G>A | CA6830831 | ACADS | c.348G>A (p.Met116Ile) n.460G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737123G>C | CA386614201 | ACADS | c.348G>C (p.Met116Ile) n.460G>C | |
12 | g.120737123G= | CA2067553343 | ACADS | c.348G= (p.Met116=) n.460G= | |
12 | g.120737123G>T | CA386614202 | ACADS | c.348G>T (p.Met116Ile) n.460G>T | gnomAD v4 |
12 | g.120737124A= | CA2067553346 | ACADS | c.349A= (p.Ser117=) n.461A= | |
12 | g.120737124A>C | CA386614204 | ACADS | c.349A>C (p.Ser117Arg) n.461A>C | |
12 | g.120737124A>G | CA244521648 | ACADS | c.349A>G (p.Ser117Gly) n.461A>G | dbSNP gnomAD v4 |
12 | g.120737124A>T | CA386614203 | ACADS | c.349A>T (p.Ser117Cys) n.461A>T | |
12 | g.120737125G>A | CA386614207 | ACADS | c.350G>A (p.Ser117Asn) n.462G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737125G>C | CA386614205 | ACADS | c.350G>C (p.Ser117Thr) n.462G>C | |
12 | g.120737125G= | CA2067553350 | ACADS | c.350G= (p.Ser117=) n.462G= | |
12 | g.120737125G>T | CA386614206 | ACADS | c.350G>T (p.Ser117Ile) n.462G>T | gnomAD v4 |
12 | g.120737126T>A | CA386614208 | ACADS | c.351T>A (p.Ser117Arg) n.463T>A | COSMIC |
12 | g.120737126T>C | CA482146453 | ACADS | c.351T>C (p.Ser117=) n.463T>C | gnomAD v4 |
12 | g.120737126T>G | CA386614209 | ACADS | c.351T>G (p.Ser117Arg) n.463T>G | |
12 | g.120737127G>A | CA386614210 | ACADS | c.352G>A (p.Val118Ile) n.464G>A | ClinVar gnomAD v4 |
12 | g.120737127G>C | CA386614211 | ACADS | c.352G>C (p.Val118Leu) n.464G>C | |
12 | g.120737127G>T | CA386614212 | ACADS | c.352G>T (p.Val118Phe) n.464G>T | gnomAD v4 |
12 | g.120737128T>A | CA386614213 | ACADS | c.353T>A (p.Val118Asp) n.465T>A | gnomAD v4 |
12 | g.120737128T>C | CA386614215 | ACADS | c.353T>C (p.Val118Ala) n.465T>C | gnomAD v4 |
12 | g.120737128T>G | CA386614214 | ACADS | c.353T>G (p.Val118Gly) n.465T>G | dbSNP |
12 | g.120737128T= | CA2067553352 | ACADS | c.353T= (p.Val118=) n.465T= | |
12 | g.120737128_120737131delinsTCAA | CA2067553351 | ACADS | c.353_356delinsTCAA (p.Val118=) n.465_468delinsTCAA | |
12 | g.120737129C>A | CA482146456 | ACADS | c.354C>A (p.Val118=) n.466C>A | gnomAD v4 |
12 | g.120737129C>G | CA482146457 | ACADS | c.354C>G (p.Val118=) n.466C>G | |
12 | g.120737129C>T | CA482146455 | ACADS | c.354C>T (p.Val118=) n.466C>T | gnomAD v4 |
12 | g.120737133_120737135del | CA6830832 | ACADS | c.358_360del (p.Asn120del) n.470_472del | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737130A>C | CA386614216 | ACADS | c.355A>C (p.Asn119His) n.467A>C | |
12 | g.120737130A>G | CA386614217 | ACADS | c.355A>G (p.Asn119Asp) n.467A>G | gnomAD v4 |
12 | g.120737130A>T | CA386614218 | ACADS | c.355A>T (p.Asn119Tyr) n.467A>T | |
12 | g.120737131A>C | CA386614219 | ACADS | c.356A>C (p.Asn119Thr) n.468A>C | |
12 | g.120737131A>G | CA386614221 | ACADS | c.356A>G (p.Asn119Ser) n.468A>G | gnomAD v4 |
12 | g.120737131A>T | CA386614220 | ACADS | c.356A>T (p.Asn119Ile) n.468A>T | |
12 | g.120737132C>A | CA386614222 | ACADS | c.357C>A (p.Asn119Lys) n.469C>A | dbSNP gnomAD v4 |
12 | g.120737132C= | CA2067553356 | ACADS | c.357C= (p.Asn119=) n.469C= | |
12 | g.120737132C>G | CA386614223 | ACADS | c.357C>G (p.Asn119Lys) n.469C>G | |
12 | g.120737132C>T | CA482146459 | ACADS | c.357C>T (p.Asn119=) n.469C>T | dbSNP gnomAD v4 |
12 | g.120737133A= | CA2067553359 | ACADS | c.358A= (p.Asn120=) n.470A= | |
12 | g.120737133A>C | CA386614224 | ACADS | c.358A>C (p.Asn120His) n.470A>C | |
12 | g.120737133A>G | CA386614225 | ACADS | c.358A>G (p.Asn120Asp) n.470A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737133A>T | CA386614226 | ACADS | c.358A>T (p.Asn120Tyr) n.470A>T | |
12 | g.120737134A= | CA2067553363 | ACADS | c.359A= (p.Asn120=) n.471A= | |
12 | g.120737134A>C | CA386614227 | ACADS | c.359A>C (p.Asn120Thr) n.471A>C | |
12 | g.120737134A>G | CA6830833 | ACADS | c.359A>G (p.Asn120Ser) n.471A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737134A>T | CA386614228 | ACADS | c.359A>T (p.Asn120Ile) n.471A>T | |
12 | g.120737135C>A | CA386614229 | ACADS | c.360C>A (p.Asn120Lys) n.472C>A | gnomAD v4 |
12 | g.120737135C= | CA2067553365 | ACADS | c.360C= (p.Asn120=) n.472C= | |
12 | g.120737135C>G | CA386614230 | ACADS | c.360C>G (p.Asn120Lys) n.472C>G | |
12 | g.120737135C>T | CA302923 | ACADS | c.360C>T (p.Asn120=) n.472C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.120737136G>A | CA244521667 | ACADS | c.360+1G>A (n.360+1G>A) n.473G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.120737136G>C | CA386614232 | ACADS | c.360+1G>C (n.360+1G>C) n.473G>C | |
12 | g.120737136G= | CA2067553368 | ACADS | c.360+1G= (n.360+1G=) n.473G= | |
12 | g.120737136G>T | CA386614231 | ACADS | c.360+1G>T (n.360+1G>T) n.473G>T | gnomAD v4 |
12 | g.120737137T>A | CA386614233 | ACADS | c.360+2T>A (n.360+2T>A) n.474T>A | |
12 | g.120737137T>C | CA386614235 | ACADS | c.360+2T>C (n.360+2T>C) n.474T>C | gnomAD v4 |
12 | g.120737137T>G | CA386614234 | ACADS | c.360+2T>G (n.360+2T>G) n.474T>G | |
12 | g.120737138G>A | CA608059762 | ACADS | c.360+3G>A (n.360+3G>A) n.475G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737138G>C | CA2621366621 | ACADS | c.360+3G>C (n.360+3G>C) n.475G>C | gnomAD v4 |
12 | g.120737138G= | CA2067553372 | ACADS | c.360+3G= (n.360+3G=) n.475G= | |
12 | g.120737138G>T | CA2621366624 | ACADS | c.360+3G>T (n.360+3G>T) n.475G>T | gnomAD v4 |
12 | g.120737140G>A | CA2621366630 | ACADS | c.360+5G>A (n.360+5G>A) n.477G>A | gnomAD v4 |
12 | g.120737140G= | CA2067553374 | ACADS | c.360+5G= (n.360+5G=) n.477G= | |
12 | g.120737140G>T | CA608059763 | ACADS | c.360+5G>T (n.360+5G>T) n.477G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737140_120737141delinsGC | CA2067553377 | ACADS | c.360+5_360+6delinsGC (n.360+5_360+6delinsGC) n.477_478delinsGC | |
12 | g.120737141C>A | CA608059764 | ACADS | c.360+6C>A (n.360+6C>A) n.478C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737141C= | CA2067553382 | ACADS | c.360+6C= (n.360+6C=) n.478C= | |
12 | g.120737141C>G | CA2067553380 | ACADS | c.360+6C>G (n.360+6C>G) n.478C>G | ClinVar dbSNP |
12 | g.120737141C>T | CA2621366645 | ACADS | c.360+6C>T (n.360+6C>T) n.478C>T | gnomAD v4 |
12 | g.120737145dup | CA2621366637 | ACADS | c.360+10dup (n.360+10dup) n.482dup | gnomAD v4 |
12 | g.120737145del | CA2067553379 | ACADS | c.360+10del (n.360+10del) n.482del | dbSNP gnomAD v4 |
12 | g.120737143C>A | CA2621366649 | ACADS | c.360+8C>A (n.360+8C>A) n.480C>A | gnomAD v4 |
12 | g.120737143C= | CA2067553385 | ACADS | c.360+8C= (n.360+8C=) n.480C= | |
12 | g.120737143C>G | CA608059765 | ACADS | c.360+8C>G (n.360+8C>G) n.480C>G | ClinVar dbSNP gnomAD v2 |
12 | g.120737143C>T | CA684416417 | ACADS | c.360+8C>T (n.360+8C>T) n.480C>T | dbSNP gnomAD v4 |
12 | g.120737144C>A | CA2621366652 | ACADS | c.360+9C>A (n.360+9C>A) n.481C>A | gnomAD v4 |
12 | g.120737144C= | CA2067553387 | ACADS | c.360+9C= (n.360+9C=) n.481C= | |
12 | g.120737144C>T | CA608059766 | ACADS | c.360+9C>T (n.360+9C>T) n.481C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737145C>A | CA2621366654 | ACADS | c.360+10C>A (n.360+10C>A) n.482C>A | gnomAD v4 |
12 | g.120737145C= | CA2067553391 | ACADS | c.360+10C= (n.360+10C=) n.482C= | |
12 | g.120737145C>G | CA244521668 | ACADS | c.360+10C>G (n.360+10C>G) n.482C>G | dbSNP |
12 | g.120737145C>T | CA608059767 | ACADS | c.360+10C>T (n.360+10C>T) n.482C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737145_120737146delinsCT | CA2067553389 | ACADS | c.360+10_360+11delinsCT (n.360+10_360+11delinsCT) n.482_483delinsCT | |
12 | g.120737146del | CA6830834 | ACADS | c.360+11del (n.360+11del) n.483del | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737146T>C | CA2621366656 | ACADS | c.360+11T>C (n.360+11T>C) n.483T>C | gnomAD v4 |
12 | g.120737147C>A | CA2621366658 | ACADS | c.360+12C>A (n.360+12C>A) n.484C>A | gnomAD v4 |
12 | g.120737148C>A | CA2621366660 | ACADS | c.360+13C>A (n.360+13C>A) n.485C>A | gnomAD v4 |
12 | g.120737148C= | CA2067553395 | ACADS | c.360+13C= (n.360+13C=) n.485C= | |
12 | g.120737148C>T | CA608059768 | ACADS | c.360+13C>T (n.360+13C>T) n.485C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737149C>A | CA2575321394 | ACADS | c.360+14C>A (n.360+14C>A) n.486C>A | gnomAD v4 |
12 | g.120737149C= | CA2067553397 | ACADS | c.360+14C= (n.360+14C=) n.486C= | |
12 | g.120737149C>G | CA608059769 | ACADS | c.360+14C>G (n.360+14C>G) n.486C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737150A= | CA2067553399 | ACADS | c.360+15A= (n.360+15A=) n.487A= | |
12 | g.120737150A>G | CA6830835 | ACADS | c.360+15A>G (n.360+15A>G) n.487A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737151G>A | CA2573148025 | ACADS | c.360+16G>A (n.360+16G>A) n.488G>A | ClinVar dbSNP gnomAD v4 |
12 | g.120737151G>T | CA2621366671 | ACADS | c.360+16G>T (n.360+16G>T) n.488G>T | gnomAD v4 |
12 | g.120737152G>T | CA2621366673 | ACADS | c.360+17G>T (n.360+17G>T) n.489G>T | gnomAD v4 |
12 | g.120737152_120737153delinsGC | CA2067553401 | ACADS | c.360+17_360+18delinsGC (n.360+17_360+18delinsGC) n.489_490delinsGC | |
12 | g.120737153C>A | CA2621366676 | ACADS | c.360+18C>A (n.360+18C>A) n.490C>A | gnomAD v4 |
12 | g.120737153C>G | CA2575321398 | ACADS | c.360+18C>G (n.360+18C>G) n.490C>G | |
12 | g.120737156del | CA608059770 | ACADS | c.360+21del (n.360+21del) n.493del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737154C= | CA2067553404 | ACADS | c.360+19C= (n.360+19C=) n.491C= | |
12 | g.120737154C>G | CA608059771 | ACADS | c.360+19C>G (n.360+19C>G) n.491C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737155C= | CA2067553407 | ACADS | c.360+20C= (n.360+20C=) n.492C= | |
12 | g.120737155C>T | CA684416434 | ACADS | c.360+20C>T (n.360+20C>T) n.492C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120737156C>A | CA2621366689 | ACADS | c.360+21C>A (n.360+21C>A) n.493C>A | gnomAD v4 |
12 | g.120737156C= | CA2067553409 | ACADS | c.360+21C= (n.360+21C=) n.493C= | |
12 | g.120737156C>G | CA6830836 | ACADS | c.360+21C>G (n.360+21C>G) n.493C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737156C>T | CA6830837 | ACADS | c.360+21C>T (n.360+21C>T) n.493C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737157del | CA2621366694 | ACADS | c.360+22del (n.360+22del) n.494del | gnomAD v4 |
12 | g.120737157T>A | CA2621366695 | ACADS | c.360+22T>A (n.360+22T>A) n.494T>A | gnomAD v4 |
12 | g.120737157T>C | CA608059772 | ACADS | c.360+22T>C (n.360+22T>C) n.494T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737157T>G | CA2621366698 | ACADS | c.360+22T>G (n.360+22T>G) n.494T>G | gnomAD v4 |
12 | g.120737157T= | CA2067553415 | ACADS | c.360+22T= (n.360+22T=) n.494T= | |
12 | g.120737158G>T | CA2621366700 | ACADS | c.360+23G>T (n.360+23G>T) n.495G>T | gnomAD v4 |
12 | g.120737159G>A | CA2621366702 | ACADS | c.360+24G>A (n.360+24G>A) n.496G>A | gnomAD v4 |
12 | g.120737159G>C | CA2621366705 | ACADS | c.360+24G>C (n.360+24G>C) n.496G>C | gnomAD v4 |
12 | g.120737159G>T | CA2621366706 | ACADS | c.360+24G>T (n.360+24G>T) n.496G>T | gnomAD v4 |
12 | g.120737160G>A | CA2621366741 | ACADS | c.360+25G>A (n.360+25G>A) n.497G>A | gnomAD v4 |
12 | g.120737160G>C | CA2621366739 | ACADS | c.360+25G>C (n.360+25G>C) n.497G>C | gnomAD v4 |
12 | g.120737160G>T | CA2621366738 | ACADS | c.360+25G>T (n.360+25G>T) n.497G>T | gnomAD v4 |
12 | g.120737161A= | CA2067553416 | ACADS | c.360+26A= (n.360+26A=) n.498A= | |
12 | g.120737161A>G | CA6830838 | ACADS | c.360+26A>G (n.360+26A>G) n.498A>G | dbSNP ExAC gnomAD v2 |
12 | g.120737165_120737166del | CA2621366742 | ACADS | c.360+30_360+31del (n.360+30_360+31del) n.502_503del | gnomAD v4 |
12 | g.120737162C= | CA2067553418 | ACADS | c.360+27C= (n.360+27C=) n.499C= | |
12 | g.120737162C>G | CA6830839 | ACADS | c.360+27C>G (n.360+27C>G) n.499C>G | dbSNP ExAC gnomAD v2 |
12 | g.120737162C>T | CA2621366745 | ACADS | c.360+27C>T (n.360+27C>T) n.499C>T | gnomAD v4 |
12 | g.120737164C>A | CA2621366746 | ACADS | c.360+29C>A (n.360+29C>A) n.501C>A | gnomAD v4 |
12 | g.120737164C= | CA2067553420 | ACADS | c.360+29C= (n.360+29C=) n.501C= | |
12 | g.120737164C>G | CA2621366749 | ACADS | c.360+29C>G (n.360+29C>G) n.501C>G | gnomAD v4 |
12 | g.120737164C>T | CA6830840 | ACADS | c.360+29C>T (n.360+29C>T) n.501C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737165A= | CA2067553426 | ACADS | c.360+30A= (n.360+30A=) n.502A= | |
12 | g.120737165A>T | CA608059773 | ACADS | c.360+30A>T (n.360+30A>T) n.502A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737165dup | CA6830841 | ACADS | c.360+30dup (n.360+30dup) n.502dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737166C>A | CA608059774 | ACADS | c.360+31C>A (n.360+31C>A) n.503C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737166C= | CA2067553432 | ACADS | c.360+31C= (n.360+31C=) n.503C= | |
12 | g.120737166C>G | CA6830843 | ACADS | c.360+31C>G (n.360+31C>G) n.503C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737166C>T | CA6830842 | ACADS | c.360+31C>T (n.360+31C>T) n.503C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737167G>A | CA6830844 | ACADS | c.360+32G>A (n.360+32G>A) n.504G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737167G>C | CA2575321401 | ACADS | c.360+32G>C (n.360+32G>C) n.504G>C | |
12 | g.120737167G= | CA2067553439 | ACADS | c.360+32G= (n.360+32G=) n.504G= | |
12 | g.120737167G>T | CA608059775 | ACADS | c.360+32G>T (n.360+32G>T) n.504G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737168G>A | CA608059776 | ACADS | c.360+33G>A (n.360+33G>A) n.505G>A | dbSNP gnomAD v2 |
12 | g.120737168G= | CA2067553441 | ACADS | c.360+33G= (n.360+33G=) n.505G= | |
12 | g.120737168G>T | CA2621366766 | ACADS | c.360+33G>T (n.360+33G>T) n.505G>T | gnomAD v4 |
12 | g.120737169G>A | CA6830845 | ACADS | c.360+34G>A (n.360+34G>A) n.506G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737169G= | CA2067553444 | ACADS | c.360+34G= (n.360+34G=) n.506G= | |
12 | g.120737169G>T | CA2621366772 | ACADS | c.360+34G>T (n.360+34G>T) n.506G>T | gnomAD v4 |
12 | g.120737170T>G | CA2067553446 | ACADS | c.360+35T>G (n.360+35T>G) n.507T>G | dbSNP |
12 | g.120737170T= | CA2067553448 | ACADS | c.360+35T= (n.360+35T=) n.507T= | |
12 | g.120737170dup | CA2621366778 | ACADS | c.360+35dup (n.360+35dup) n.507dup | gnomAD v4 |
12 | g.120737171G>T | CA2621366784 | ACADS | c.360+36G>T (n.360+36G>T) n.508G>T | gnomAD v4 |
12 | g.120737172G>T | CA2621366789 | ACADS | c.360+37G>T (n.360+37G>T) n.509G>T | gnomAD v4 |
12 | g.120737173del | CA2621366795 | ACADS | c.360+38del (n.360+38del) n.510del | gnomAD v4 |
12 | g.120737173A>C | CA2546465363 | ACADS | c.360+38A>C (n.360+38A>C) n.510A>C | |
12 | g.120737174G>A | CA6830846 | ACADS | c.360+39G>A (n.360+39G>A) n.511G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737174G>C | CA2621366801 | ACADS | c.360+39G>C (n.360+39G>C) n.511G>C | gnomAD v4 |
12 | g.120737174G= | CA2067553451 | ACADS | c.360+39G= (n.360+39G=) n.511G= | |
12 | g.120737174G>T | CA2797719180 | ACADS | c.360+39G>T (n.360+39G>T) n.511G>T | |
12 | g.120737175G>A | CA608059777 | ACADS | c.360+40G>A (n.360+40G>A) n.512G>A | dbSNP gnomAD v2 |
12 | g.120737175G= | CA2067553453 | ACADS | c.360+40G= (n.360+40G=) n.512G= | |
12 | g.120737175G>T | CA2797719181 | ACADS | c.360+40G>T (n.360+40G>T) n.512G>T | |
12 | g.120737176G>C | CA6830847 | ACADS | c.360+41G>C (n.360+41G>C) n.513G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737176G= | CA2067553454 | ACADS | c.360+41G= (n.360+41G=) n.513G= | |
12 | g.120737177A= | CA2067553456 | ACADS | c.360+42A= (n.360+42A=) n.514A= | |
12 | g.120737177A>G | CA2621366807 | ACADS | c.360+42A>G (n.360+42A>G) n.514A>G | gnomAD v4 |
12 | g.120737177A>T | CA6830848 | ACADS | c.360+42A>T (n.360+42A>T) n.514A>T | dbSNP ExAC gnomAD v2 |
12 | g.120737178G>A | CA608059778 | ACADS | c.360+43G>A (n.360+43G>A) n.515G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737178G= | CA2067553459 | ACADS | c.360+43G= (n.360+43G=) n.515G= | |
12 | g.120737179G>A | CA2067553461 | ACADS | c.360+44G>A (n.360+44G>A) n.516G>A | dbSNP gnomAD v4 |
12 | g.120737179G>C | CA2621366821 | ACADS | c.360+44G>C (n.360+44G>C) n.516G>C | gnomAD v4 |
12 | g.120737179G= | CA2067553460 | ACADS | c.360+44G= (n.360+44G=) n.516G= | |
12 | g.120737179G>T | CA2621366824 | ACADS | c.360+44G>T (n.360+44G>T) n.516G>T | gnomAD v4 |
12 | g.120737180C>A | CA2621366827 | ACADS | c.360+45C>A (n.360+45C>A) n.517C>A | gnomAD v4 |
12 | g.120737182C>A | CA2621366828 | ACADS | c.360+47C>A (n.360+47C>A) n.519C>A | gnomAD v4 |
12 | g.120737182C= | CA2067553463 | ACADS | c.360+47C= (n.360+47C=) n.519C= | |
12 | g.120737182C>T | CA2067553466 | ACADS | c.360+47C>T (n.360+47C>T) n.519C>T | dbSNP gnomAD v4 |