| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.120738848_120738859del | CA684418574 | ACADS | c.962_973del (p.Leu321_Ala324del) c.950_961del (p.Leu317_Ala320del) | ClinVar dbSNP gnomAD v4 |
| 12 | g.120738859C>A | CA482146774 | ACADS | c.973C>A (p.Arg325=) c.961C>A (p.Arg321=) | |
| 12 | g.120738859C= | CA2067555549 | ACADS | c.973C= (p.Arg325=) c.961C= (p.Arg321=) | |
| 12 | g.120738859C>G | CA386601498 | ACADS | c.973C>G (p.Arg325Gly) c.961C>G (p.Arg321Gly) | |
| 12 | g.120738859C>T | CA252887 | ACADS | c.973C>T (p.Arg325Trp) c.961C>T (p.Arg321Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738860G>A | CA244494682 | ACADS | c.974G>A (p.Arg325Gln) c.962G>A (p.Arg321Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120738860G>C | CA386601499 | ACADS | c.974G>C (p.Arg325Pro) c.962G>C (p.Arg321Pro) | |
| 12 | g.120738860G= | CA2067555550 | ACADS | c.974G= (p.Arg325=) c.962G= (p.Arg321=) | |
| 12 | g.120738860G>T | CA386601500 | ACADS | c.974G>T (p.Arg325Leu) c.962G>T (p.Arg321Leu) | |
| 12 | g.120738861G>A | CA482146779 | ACADS | c.975G>A (p.Arg325=) c.963G>A (p.Arg321=) | |
| 12 | g.120738861G>C | CA482146780 | ACADS | c.975G>C (p.Arg325=) c.963G>C (p.Arg321=) | |
| 12 | g.120738861G>T | CA482146781 | ACADS | c.975G>T (p.Arg325=) c.963G>T (p.Arg321=) | |
| 12 | g.120738862C>A | CA386601501 | ACADS | c.976C>A (p.Leu326Met) c.964C>A (p.Leu322Met) | |
| 12 | g.120738862C= | CA2067555551 | ACADS | c.976C= (p.Leu326=) c.964C= (p.Leu322=) | |
| 12 | g.120738862C>G | CA386601502 | ACADS | c.976C>G (p.Leu326Val) c.964C>G (p.Leu322Val) | |
| 12 | g.120738862C>T | CA482146782 | ACADS | c.976C>T (p.Leu326=) c.964C>T (p.Leu322=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120738863T>A | CA386601503 | ACADS | c.977T>A (p.Leu326Gln) c.965T>A (p.Leu322Gln) | |
| 12 | g.120738863T>C | CA386601504 | ACADS | c.977T>C (p.Leu326Pro) c.965T>C (p.Leu322Pro) | |
| 12 | g.120738863T>G | CA386601505 | ACADS | c.977T>G (p.Leu326Arg) c.965T>G (p.Leu322Arg) | |
| 12 | g.120738864G>A | CA482146783 | ACADS | c.978G>A (p.Leu326=) c.966G>A (p.Leu322=) | |
| 12 | g.120738864G>C | CA482146784 | ACADS | c.978G>C (p.Leu326=) c.966G>C (p.Leu322=) | |
| 12 | g.120738864G>T | CA482146785 | ACADS | c.978G>T (p.Leu326=) c.966G>T (p.Leu322=) | |
| 12 | g.120738865C>A | CA386601506 | ACADS | c.979C>A (p.Leu327Met) c.967C>A (p.Leu323Met) | |
| 12 | g.120738865C>G | CA386601507 | ACADS | c.979C>G (p.Leu327Val) c.967C>G (p.Leu323Val) | |
| 12 | g.120738865C>T | CA482146788 | ACADS | c.979C>T (p.Leu327=) c.967C>T (p.Leu323=) | gnomAD v4 |
| 12 | g.120738866_120738869del | CA912973555 | ACADS | c.980_983del (p.Leu327ProfsTer7) c.968_971del (p.Leu323ProfsTer7) | |
| 12 | g.120738866T>A | CA386601510 | ACADS | c.980T>A (p.Leu327Gln) c.968T>A (p.Leu323Gln) | |
| 12 | g.120738866T>C | CA386601509 | ACADS | c.980T>C (p.Leu327Pro) c.968T>C (p.Leu323Pro) | |
| 12 | g.120738866T>G | CA386601508 | ACADS | c.980T>G (p.Leu327Arg) c.968T>G (p.Leu323Arg) | |
| 12 | g.120738866_120738869delinsTGAC | CA2067555552 | ACADS | c.980_983delinsTGAC (p.Leu327=) c.968_971delinsTGAC (p.Leu323=) | |
| 12 | g.120738867G>A | CA482146791 | ACADS | c.981G>A (p.Leu327=) c.969G>A (p.Leu323=) | |
| 12 | g.120738867G>C | CA482146790 | ACADS | c.981G>C (p.Leu327=) c.969G>C (p.Leu323=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738867G= | CA2067555553 | ACADS | c.981G= (p.Leu327=) c.969G= (p.Leu323=) | |
| 12 | g.120738867G>T | CA482146789 | ACADS | c.981G>T (p.Leu327=) c.969G>T (p.Leu323=) | gnomAD v4 |
| 12 | g.120738867_120738869del | CA608059988 | ACADS | c.981_983del (p.Thr328del) c.969_971del (p.Thr324del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738868A= | CA2067555554 | ACADS | c.982A= (p.Thr328=) c.970A= (p.Thr324=) | |
| 12 | g.120738868A>C | CA386601511 | ACADS | c.982A>C (p.Thr328Pro) c.970A>C (p.Thr324Pro) | gnomAD v4 |
| 12 | g.120738868A>G | CA386601512 | ACADS | c.982A>G (p.Thr328Ala) c.970A>G (p.Thr324Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120738868A>T | CA386601513 | ACADS | c.982A>T (p.Thr328Ser) c.970A>T (p.Thr324Ser) | COSMIC |
| 12 | g.120738869C>A | CA386601514 | ACADS | c.983C>A (p.Thr328Asn) c.971C>A (p.Thr324Asn) | |
| 12 | g.120738869C>G | CA386601515 | ACADS | c.983C>G (p.Thr328Ser) c.971C>G (p.Thr324Ser) | |
| 12 | g.120738869C>T | CA386601516 | ACADS | c.983C>T (p.Thr328Ile) c.971C>T (p.Thr324Ile) | |
| 12 | g.120738870C>A | CA482146795 | ACADS | c.984C>A (p.Thr328=) c.972C>A (p.Thr324=) | |
| 12 | g.120738870C>G | CA482146796 | ACADS | c.984C>G (p.Thr328=) c.972C>G (p.Thr324=) | |
| 12 | g.120738870C>T | CA482146797 | ACADS | c.984C>T (p.Thr328=) c.972C>T (p.Thr324=) | ClinVar |
| 12 | g.120738871T>A | CA386601517 | ACADS | c.985T>A (p.Trp329Arg) c.973T>A (p.Trp325Arg) | |
| 12 | g.120738871T>C | CA386601518 | ACADS | c.985T>C (p.Trp329Arg) c.973T>C (p.Trp325Arg) | |
| 12 | g.120738871T>G | CA386601519 | ACADS | c.985T>G (p.Trp329Gly) c.973T>G (p.Trp325Gly) | |
| 12 | g.120738872G>A | CA386601520 | ACADS | c.986G>A (p.Trp329Ter) c.974G>A (p.Trp325Ter) | |
| 12 | g.120738872G>C | CA386601521 | ACADS | c.986G>C (p.Trp329Ser) c.974G>C (p.Trp325Ser) |