Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.120737077C>A | CA386614109 | ACADS | c.302C>A (p.Ala101Asp) n.414C>A | gnomAD v4 |
12 | g.120737077C= | CA2067553232 | ACADS | c.302C= (p.Ala101=) n.414C= | |
12 | g.120737077C>G | CA386614110 | ACADS | c.302C>G (p.Ala101Gly) n.414C>G | gnomAD v4 |
12 | g.120737077C>T | CA244521505 | ACADS | c.302C>T (p.Ala101Val) n.414C>T | ClinVar dbSNP |
12 | g.120737078C>A | CA6830819 | ACADS | c.303C>A (p.Ala101=) n.415C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737078C= | CA2067553235 | ACADS | c.303C= (p.Ala101=) n.415C= | |
12 | g.120737078C>G | CA482146396 | ACADS | c.303C>G (p.Ala101=) n.415C>G | |
12 | g.120737078C>T | CA482146395 | ACADS | c.303C>T (p.Ala101=) n.415C>T | gnomAD v4 |
12 | g.120737079A= | CA2067553238 | ACADS | c.304A= (p.Met102=) n.416A= | |
12 | g.120737079A>C | CA386614111 | ACADS | c.304A>C (p.Met102Leu) n.416A>C | |
12 | g.120737079A>G | CA6830820 | ACADS | c.304A>G (p.Met102Val) n.416A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737079A>T | CA386614112 | ACADS | c.304A>T (p.Met102Leu) n.416A>T | gnomAD v4 |
12 | g.120737080T>A | CA386614114 | ACADS | c.305T>A (p.Met102Lys) n.417T>A | |
12 | g.120737080T>C | CA386614115 | ACADS | c.305T>C (p.Met102Thr) n.417T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737080T>G | CA386614113 | ACADS | c.305T>G (p.Met102Arg) n.417T>G | |
12 | g.120737080T= | CA2067553241 | ACADS | c.305T= (p.Met102=) n.417T= | |
12 | g.120737080_120737083delinsTGGA | CA2067553242 | ACADS | c.305_308delinsTGGA (p.Met102=) n.417_420delinsTGGA | |
12 | g.120737081G>A | CA386614118 | ACADS | c.306G>A (p.Met102Ile) n.418G>A | gnomAD v4 |
12 | g.120737081G>C | CA386614117 | ACADS | c.306G>C (p.Met102Ile) n.418G>C | |
12 | g.120737081G>T | CA386614116 | ACADS | c.306G>T (p.Met102Ile) n.418G>T | gnomAD v4 |
12 | g.120737085_120737087del | CA252884 | ACADS | c.310_312del (p.Glu104del) n.422_424del | 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= |