| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.120738845_120738850dup | CA608059987 | ACADS | c.959_964dup (p.Leu321_Glu322insAlaLeu) c.947_952dup (p.Leu317_Glu318insAlaLeu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738843_120738855delinsGGCCCTGGAGAGT | CA2067555542 | ACADS | c.957_969delinsGGCCCTGGAGAGT (p.Leu319=) c.945_957delinsGGCCCTGGAGAGT (p.Leu315=) | |
| 12 | g.120738848_120738859del | CA684418574 | ACADS | c.962_973del (p.Leu321_Ala324del) c.950_961del (p.Leu317_Ala320del) | ClinVar dbSNP gnomAD v4 |
| 12 | g.120738847C>A | CA386601472 | ACADS | c.961C>A (p.Leu321Met) c.949C>A (p.Leu317Met) | |
| 12 | g.120738847C>G | CA386601473 | ACADS | c.961C>G (p.Leu321Val) c.949C>G (p.Leu317Val) | |
| 12 | g.120738847C>T | CA482146753 | ACADS | c.961C>T (p.Leu321=) c.949C>T (p.Leu317=) | |
| 12 | g.120738848T>A | CA386601474 | ACADS | c.962T>A (p.Leu321Gln) c.950T>A (p.Leu317Gln) | |
| 12 | g.120738848T>C | CA386601475 | ACADS | c.962T>C (p.Leu321Pro) c.950T>C (p.Leu317Pro) | gnomAD v4 |
| 12 | g.120738848T>G | CA386601476 | ACADS | c.962T>G (p.Leu321Arg) c.950T>G (p.Leu317Arg) | |
| 12 | g.120738849G>A | CA6831150 | ACADS | c.963G>A (p.Leu321=) c.951G>A (p.Leu317=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738849G>C | CA482146755 | ACADS | c.963G>C (p.Leu321=) c.951G>C (p.Leu317=) | |
| 12 | g.120738849G= | CA2067555545 | ACADS | c.963G= (p.Leu321=) c.951G= (p.Leu317=) | |
| 12 | g.120738849G>T | CA482146756 | ACADS | c.963G>T (p.Leu321=) c.951G>T (p.Leu317=) | |
| 12 | g.120738850G>A | CA386601477 | ACADS | c.964G>A (p.Glu322Lys) c.952G>A (p.Glu318Lys) | |
| 12 | g.120738850G>C | CA386601478 | ACADS | c.964G>C (p.Glu322Gln) c.952G>C (p.Glu318Gln) | |
| 12 | g.120738850G>T | CA386601479 | ACADS | c.964G>T (p.Glu322Ter) c.952G>T (p.Glu318Ter) | gnomAD v4 |
| 12 | g.120738851A>C | CA386601480 | ACADS | c.965A>C (p.Glu322Ala) c.953A>C (p.Glu318Ala) | |
| 12 | g.120738851A>G | CA386601481 | ACADS | c.965A>G (p.Glu322Gly) c.953A>G (p.Glu318Gly) | gnomAD v4 |
| 12 | g.120738851A>T | CA386601482 | ACADS | c.965A>T (p.Glu322Val) c.953A>T (p.Glu318Val) | |
| 12 | g.120738852G>A | CA482146763 | ACADS | c.966G>A (p.Glu322=) c.954G>A (p.Glu318=) | |
| 12 | g.120738852G>C | CA386601484 | ACADS | c.966G>C (p.Glu322Asp) c.954G>C (p.Glu318Asp) | dbSNP |
| 12 | g.120738852G= | CA2067555546 | ACADS | c.966G= (p.Glu322=) c.954G= (p.Glu318=) | |
| 12 | g.120738852G>T | CA386601483 | ACADS | c.966G>T (p.Glu322Asp) c.954G>T (p.Glu318Asp) | |
| 12 | g.120738853A>C | CA386601485 | ACADS | c.967A>C (p.Ser323Arg) c.955A>C (p.Ser319Arg) | |
| 12 | g.120738853A>G | CA386601486 | ACADS | c.967A>G (p.Ser323Gly) c.955A>G (p.Ser319Gly) | |
| 12 | g.120738853A>T | CA386601487 | ACADS | c.967A>T (p.Ser323Cys) c.955A>T (p.Ser319Cys) | |
| 12 | g.120738854G>A | CA386601488 | ACADS | c.968G>A (p.Ser323Asn) c.956G>A (p.Ser319Asn) | dbSNP gnomAD v4 |
| 12 | g.120738854G>C | CA386601489 | ACADS | c.968G>C (p.Ser323Thr) c.956G>C (p.Ser319Thr) | |
| 12 | g.120738854G= | CA2067555547 | ACADS | c.968G= (p.Ser323=) c.956G= (p.Ser319=) | |
| 12 | g.120738854G>T | CA386601490 | ACADS | c.968G>T (p.Ser323Ile) c.956G>T (p.Ser319Ile) | |
| 12 | g.120738855T>A | CA386601491 | ACADS | c.969T>A (p.Ser323Arg) c.957T>A (p.Ser319Arg) | |
| 12 | g.120738855T>C | CA482146770 | ACADS | c.969T>C (p.Ser323=) c.957T>C (p.Ser319=) | |
| 12 | g.120738855T>G | CA386601492 | ACADS | c.969T>G (p.Ser323Arg) c.957T>G (p.Ser319Arg) | |
| 12 | g.120738856G>A | CA386601493 | ACADS | c.970G>A (p.Ala324Thr) c.958G>A (p.Ala320Thr) | gnomAD v4 |
| 12 | g.120738856G>C | CA386601494 | ACADS | c.970G>C (p.Ala324Pro) c.958G>C (p.Ala320Pro) | |
| 12 | g.120738856G>T | CA386601495 | ACADS | c.970G>T (p.Ala324Ser) c.958G>T (p.Ala320Ser) | |
| 12 | g.120738857C>A | CA386601497 | ACADS | c.971C>A (p.Ala324Asp) c.959C>A (p.Ala320Asp) | |
| 12 | g.120738857C= | CA2067555548 | ACADS | c.971C= (p.Ala324=) c.959C= (p.Ala320=) | |
| 12 | g.120738857C>G | CA386601496 | ACADS | c.971C>G (p.Ala324Gly) c.959C>G (p.Ala320Gly) | |
| 12 | g.120738857C>T | CA6831151 | ACADS | c.971C>T (p.Ala324Val) c.959C>T (p.Ala320Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738858C>A | CA482146771 | ACADS | c.972C>A (p.Ala324=) c.960C>A (p.Ala320=) | |
| 12 | g.120738858C>G | CA482146772 | ACADS | c.972C>G (p.Ala324=) c.960C>G (p.Ala320=) | |
| 12 | g.120738858C>T | CA482146773 | ACADS | c.972C>T (p.Ala324=) c.960C>T (p.Ala320=) | |
| 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) | |
| 12 | g.120738872G>T | CA386601522 | ACADS | c.986G>T (p.Trp329Leu) c.974G>T (p.Trp325Leu) | |
| 12 | g.120738873G>A | CA386601525 | ACADS | c.987G>A (p.Trp329Ter) c.975G>A (p.Trp325Ter) | |
| 12 | g.120738873G>C | CA386601524 | ACADS | c.987G>C (p.Trp329Cys) c.975G>C (p.Trp325Cys) | |
| 12 | g.120738873G>T | CA386601523 | ACADS | c.987G>T (p.Trp329Cys) c.975G>T (p.Trp325Cys) | |
| 12 | g.120738874C>A | CA6831152 | ACADS | c.988C>A (p.Arg330Ser) c.976C>A (p.Arg326Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738874C= | CA2067555555 | ACADS | c.988C= (p.Arg330=) c.976C= (p.Arg326=) | |
| 12 | g.120738874C>G | CA386601526 | ACADS | c.988C>G (p.Arg330Gly) c.976C>G (p.Arg326Gly) | |
| 12 | g.120738874C>T | CA312222 | ACADS | c.988C>T (p.Arg330Cys) c.976C>T (p.Arg326Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.120738874_120738876delinsCGC | CA2067555556 | ACADS | c.988_990delinsCGC (p.Arg330=) c.976_978delinsCGC (p.Arg326=) | |
| 12 | g.120738874_120738876delinsTGT | CA312246 | ACADS | c.988_990delinsTGT (p.Arg330Cys) c.976_978delinsTGT (p.Arg326Cys) | ClinVar dbSNP |
| 12 | g.120738875G>A | CA6831153 | ACADS | c.989G>A (p.Arg330His) c.977G>A (p.Arg326His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.120738875G>C | CA6831154 | ACADS | c.989G>C (p.Arg330Pro) c.977G>C (p.Arg326Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738875G= | CA2067555557 | ACADS | c.989G= (p.Arg330=) c.977G= (p.Arg326=) | |
| 12 | g.120738875G>T | CA386601527 | ACADS | c.989G>T (p.Arg330Leu) c.977G>T (p.Arg326Leu) | |
| 12 | g.120738875_120738876delinsAT | CA645372922 | ACADS | c.989_990delinsAT (p.Arg330His) c.977_978delinsAT (p.Arg326His) | ClinVar dbSNP |
| 12 | g.120738875_120738876delinsGC | CA2067555558 | ACADS | c.989_990delinsGC (p.Arg330=) c.977_978delinsGC (p.Arg326=) | |
| 12 | g.120738875_120738876delinsTT | CA2739277338 | ACADS | c.989_990delinsTT (p.Arg330Leu) c.977_978delinsTT (p.Arg326Leu) | ClinVar |
| 12 | g.120738876C>A | CA244494714 | ACADS | c.990C>A (p.Arg330=) c.978C>A (p.Arg326=) | dbSNP |
| 12 | g.120738876C= | CA2067555559 | ACADS | c.990C= (p.Arg330=) c.978C= (p.Arg326=) | |
| 12 | g.120738876C>G | CA244494717 | ACADS | c.990C>G (p.Arg330=) c.978C>G (p.Arg326=) | |
| 12 | g.120738876C>T | CA289255 | ACADS | c.990C>T (p.Arg330=) c.978C>T (p.Arg326=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738877G>A | CA386601528 | ACADS | c.991G>A (p.Ala331Thr) c.979G>A (p.Ala327Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.120738877G>C | CA386601529 | ACADS | c.991G>C (p.Ala331Pro) c.979G>C (p.Ala327Pro) | |
| 12 | g.120738877G= | CA2067555560 | ACADS | c.991G= (p.Ala331=) c.979G= (p.Ala327=) | |
| 12 | g.120738877G>T | CA386601530 | ACADS | c.991G>T (p.Ala331Ser) c.979G>T (p.Ala327Ser) | |
| 12 | g.120738878C>A | CA386601531 | ACADS | c.992C>A (p.Ala331Asp) c.980C>A (p.Ala327Asp) | gnomAD v3 gnomAD v4 |
| 12 | g.120738878C= | CA2067555561 | ACADS | c.992C= (p.Ala331=) c.980C= (p.Ala327=) | |
| 12 | g.120738878C>G | CA386601532 | ACADS | c.992C>G (p.Ala331Gly) c.980C>G (p.Ala327Gly) | |
| 12 | g.120738878C>T | CA386601533 | ACADS | c.992C>T (p.Ala331Val) c.980C>T (p.Ala327Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738879T>A | CA482146809 | ACADS | c.993T>A (p.Ala331=) c.981T>A (p.Ala327=) | |
| 12 | g.120738879T>C | CA6831155 | ACADS | c.993T>C (p.Ala331=) c.981T>C (p.Ala327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738879T>G | CA482146810 | ACADS | c.993T>G (p.Ala331=) c.981T>G (p.Ala327=) | |
| 12 | g.120738879T= | CA2067555562 | ACADS | c.993T= (p.Ala331=) c.981T= (p.Ala327=) | |
| 12 | g.120738880G>A | CA6831156 | ACADS | c.994G>A (p.Ala332Thr) c.982G>A (p.Ala328Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738880G>C | CA386601534 | ACADS | c.994G>C (p.Ala332Pro) c.982G>C (p.Ala328Pro) | |
| 12 | g.120738880G= | CA2067555563 | ACADS | c.994G= (p.Ala332=) c.982G= (p.Ala328=) | |
| 12 | g.120738880G>T | CA386601535 | ACADS | c.994G>T (p.Ala332Ser) c.982G>T (p.Ala328Ser) | |
| 12 | g.120738881C>A | CA386601536 | ACADS | c.995C>A (p.Ala332Asp) c.983C>A (p.Ala328Asp) | |
| 12 | g.120738881C= | CA2067555564 | ACADS | c.995C= (p.Ala332=) c.983C= (p.Ala328=) | |
| 12 | g.120738881C>G | CA386601537 | ACADS | c.995C>G (p.Ala332Gly) c.983C>G (p.Ala328Gly) | |
| 12 | g.120738881C>T | CA386601538 | ACADS | c.995C>T (p.Ala332Val) c.983C>T (p.Ala328Val) | ClinVar dbSNP gnomAD v4 |
| 12 | g.120738882C>A | CA482146817 | ACADS | c.996C>A (p.Ala332=) c.984C>A (p.Ala328=) | gnomAD v4 |
| 12 | g.120738882C>G | CA482146819 | ACADS | c.996C>G (p.Ala332=) c.984C>G (p.Ala328=) | |
| 12 | g.120738882C>T | CA482146820 | ACADS | c.996C>T (p.Ala332=) c.984C>T (p.Ala328=) | |
| 12 | g.120738883A>C | CA386601539 | ACADS | c.997A>C (p.Met333Leu) c.985A>C (p.Met329Leu) | |
| 12 | g.120738883A>G | CA386601540 | ACADS | c.997A>G (p.Met333Val) c.985A>G (p.Met329Val) | |
| 12 | g.120738883A>T | CA386601541 | ACADS | c.997A>T (p.Met333Leu) c.985A>T (p.Met329Leu) | gnomAD v4 |
| 12 | g.120738884T>A | CA386601542 | ACADS | c.998T>A (p.Met333Lys) c.986T>A (p.Met329Lys) | |
| 12 | g.120738884T>C | CA386601543 | ACADS | c.998T>C (p.Met333Thr) c.986T>C (p.Met329Thr) | |
| 12 | g.120738884T>G | CA386601544 | ACADS | c.998T>G (p.Met333Arg) c.986T>G (p.Met329Arg) | |
| 12 | g.120738885G>A | CA386601545 | ACADS | c.999G>A (p.Met333Ile) c.987G>A (p.Met329Ile) | |
| 12 | g.120738885G>C | CA386601546 | ACADS | c.999G>C (p.Met333Ile) c.987G>C (p.Met329Ile) | |
| 12 | g.120738885G>T | CA386601547 | ACADS | c.999G>T (p.Met333Ile) c.987G>T (p.Met329Ile) | |
| 12 | g.120738886C>A | CA386601548 | ACADS | c.1000C>A (p.Leu334Met) c.988C>A (p.Leu330Met) | |
| 12 | g.120738886C>G | CA386601549 | ACADS | c.1000C>G (p.Leu334Val) c.988C>G (p.Leu330Val) | |
| 12 | g.120738886C>T | CA482146828 | ACADS | c.1000C>T (p.Leu334=) c.988C>T (p.Leu330=) | |
| 12 | g.120738887T>A | CA386601550 | ACADS | c.1001T>A (p.Leu334Gln) c.989T>A (p.Leu330Gln) | |
| 12 | g.120738887T>C | CA386601551 | ACADS | c.1001T>C (p.Leu334Pro) c.989T>C (p.Leu330Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738887T>G | CA386601552 | ACADS | c.1001T>G (p.Leu334Arg) c.989T>G (p.Leu330Arg) | |
| 12 | g.120738887T= | CA2067555565 | ACADS | c.1001T= (p.Leu334=) c.989T= (p.Leu330=) | |
| 12 | g.120738888G>A | CA482146832 | ACADS | c.1002G>A (p.Leu334=) c.990G>A (p.Leu330=) | |
| 12 | g.120738888G>C | CA482146836 | ACADS | c.1002G>C (p.Leu334=) c.990G>C (p.Leu330=) | |
| 12 | g.120738888G>T | CA482146834 | ACADS | c.1002G>T (p.Leu334=) c.990G>T (p.Leu330=) | |
| 12 | g.120738889A>C | CA386601553 | ACADS | c.1003A>C (p.Lys335Gln) c.991A>C (p.Lys331Gln) | |
| 12 | g.120738889A>G | CA386601554 | ACADS | c.1003A>G (p.Lys335Glu) c.991A>G (p.Lys331Glu) | |
| 12 | g.120738889A>T | CA386601555 | ACADS | c.1003A>T (p.Lys335Ter) c.991A>T (p.Lys331Ter) | |
| 12 | g.120738890A>C | CA386601558 | ACADS | c.1004A>C (p.Lys335Thr) c.992A>C (p.Lys331Thr) | |
| 12 | g.120738890A>G | CA386601556 | ACADS | c.1004A>G (p.Lys335Arg) c.992A>G (p.Lys331Arg) | gnomAD v4 |
| 12 | g.120738890A>T | CA386601557 | ACADS | c.1004A>T (p.Lys335Met) c.992A>T (p.Lys331Met) | |
| 12 | g.120738891G>A | CA482146840 | ACADS | c.1005G>A (p.Lys335=) c.993G>A (p.Lys331=) | gnomAD v4 |
| 12 | g.120738891G>C | CA386601559 | ACADS | c.1005G>C (p.Lys335Asn) c.993G>C (p.Lys331Asn) | |
| 12 | g.120738891G>T | CA386601560 | ACADS | c.1005G>T (p.Lys335Asn) c.993G>T (p.Lys331Asn) | |
| 12 | g.120738892G>A | CA386601561 | ACADS | c.1006G>A (p.Asp336Asn) c.994G>A (p.Asp332Asn) | |
| 12 | g.120738892G>C | CA386601562 | ACADS | c.1006G>C (p.Asp336His) c.994G>C (p.Asp332His) | |
| 12 | g.120738892G>T | CA386601563 | ACADS | c.1006G>T (p.Asp336Tyr) c.994G>T (p.Asp332Tyr) | |
| 12 | g.120738893A>C | CA386601564 | ACADS | c.1007A>C (p.Asp336Ala) c.995A>C (p.Asp332Ala) | |
| 12 | g.120738893A>G | CA386601566 | ACADS | c.1007A>G (p.Asp336Gly) c.995A>G (p.Asp332Gly) | |
| 12 | g.120738893A>T | CA386601565 | ACADS | c.1007A>T (p.Asp336Val) c.995A>T (p.Asp332Val) | |
| 12 | g.120738894T>A | CA386601567 | ACADS | c.1008T>A (p.Asp336Glu) c.996T>A (p.Asp332Glu) | |
| 12 | g.120738894T>C | CA482146843 | ACADS | c.1008T>C (p.Asp336=) c.996T>C (p.Asp332=) | |
| 12 | g.120738894T>G | CA386601568 | ACADS | c.1008T>G (p.Asp336Glu) c.996T>G (p.Asp332Glu) | |
| 12 | g.120738895A>C | CA386601569 | ACADS | c.1009A>C (p.Asn337His) c.997A>C (p.Asn333His) | |
| 12 | g.120738895A>G | CA386601570 | ACADS | c.1009A>G (p.Asn337Asp) c.997A>G (p.Asn333Asp) | |
| 12 | g.120738895A>T | CA386601571 | ACADS | c.1009A>T (p.Asn337Tyr) c.997A>T (p.Asn333Tyr) | |
| 12 | g.120738896A>C | CA386601572 | ACADS | c.1010A>C (p.Asn337Thr) c.998A>C (p.Asn333Thr) | |
| 12 | g.120738896A>G | CA386601573 | ACADS | c.1010A>G (p.Asn337Ser) c.998A>G (p.Asn333Ser) | |
| 12 | g.120738896A>T | CA386601574 | ACADS | c.1010A>T (p.Asn337Ile) c.998A>T (p.Asn333Ile) | |
| 12 | g.120738897C>A | CA244494731 | ACADS | c.1011C>A (p.Asn337Lys) c.999C>A (p.Asn333Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120738897C= | CA2067555566 | ACADS | c.1011C= (p.Asn337=) c.999C= (p.Asn333=) | |
| 12 | g.120738897C>G | CA386601575 | ACADS | c.1011C>G (p.Asn337Lys) c.999C>G (p.Asn333Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120738897C>T | CA482146847 | ACADS | c.1011C>T (p.Asn337=) c.999C>T (p.Asn333=) | gnomAD v4 |
| 12 | g.120738897_120738900delinsCAAG | CA2067555567 | ACADS | c.1011_1014delinsCAAG (p.Asn337=) c.999_1002delinsCAAG (p.Asn333=) | |
| 12 | g.120738898A>C | CA386601577 | ACADS | c.1012A>C (p.Lys338Gln) c.1000A>C (p.Lys334Gln) | |
| 12 | g.120738898A>G | CA386601576 | ACADS | c.1012A>G (p.Lys338Glu) c.1000A>G (p.Lys334Glu) | |
| 12 | g.120738898A>T | CA386601578 | ACADS | c.1012A>T (p.Lys338Ter) c.1000A>T (p.Lys334Ter) | |
| 12 | g.120738901_120738903del | CA6831157 | ACADS | c.1015_1017del (p.Lys339del) c.1003_1005del (p.Lys335del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738899A= | CA2067555568 | ACADS | c.1013A= (p.Lys338=) c.1001A= (p.Lys334=) | |
| 12 | g.120738899A>C | CA386601579 | ACADS | c.1013A>C (p.Lys338Thr) c.1001A>C (p.Lys334Thr) | |
| 12 | g.120738899A>G | CA6831158 | ACADS | c.1013A>G (p.Lys338Arg) c.1001A>G (p.Lys334Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738899A>T | CA386601580 | ACADS | c.1013A>T (p.Lys338Met) c.1001A>T (p.Lys334Met) | |
| 12 | g.120738900G>A | CA482146850 | ACADS | c.1014G>A (p.Lys338=) c.1002G>A (p.Lys334=) | |
| 12 | g.120738900G>C | CA386601581 | ACADS | c.1014G>C (p.Lys338Asn) c.1002G>C (p.Lys334Asn) | dbSNP gnomAD v2 |
| 12 | g.120738900G= | CA2067555569 | ACADS | c.1014G= (p.Lys338=) c.1002G= (p.Lys334=) | |
| 12 | g.120738900G>T | CA386601582 | ACADS | c.1014G>T (p.Lys338Asn) c.1002G>T (p.Lys334Asn) | |
| 12 | g.120738901A>C | CA386601583 | ACADS | c.1015A>C (p.Lys339Gln) c.1003A>C (p.Lys335Gln) | |
| 12 | g.120738901A>G | CA386601584 | ACADS | c.1015A>G (p.Lys339Glu) c.1003A>G (p.Lys335Glu) | |
| 12 | g.120738901A>T | CA386601585 | ACADS | c.1015A>T (p.Lys339Ter) c.1003A>T (p.Lys335Ter) | |
| 12 | g.120738902A= | CA2067555570 | ACADS | c.1016A= (p.Lys339=) c.1004A= (p.Lys335=) | |
| 12 | g.120738902A>C | CA386601586 | ACADS | c.1016A>C (p.Lys339Thr) c.1004A>C (p.Lys335Thr) | |
| 12 | g.120738902A>G | CA386601587 | ACADS | c.1016A>G (p.Lys339Arg) c.1004A>G (p.Lys335Arg) | |
| 12 | g.120738902A>T | CA6831159 | ACADS | c.1016A>T (p.Lys339Met) c.1004A>T (p.Lys335Met) | dbSNP ExAC |
| 12 | g.120738903G>A | CA482146854 | ACADS | c.1017G>A (p.Lys339=) c.1005G>A (p.Lys335=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120738903G>C | CA386601589 | ACADS | c.1017G>C (p.Lys339Asn) c.1005G>C (p.Lys335Asn) | |
| 12 | g.120738903G= | CA2067555571 | ACADS | c.1017G= (p.Lys339=) c.1005G= (p.Lys335=) | |
| 12 | g.120738903G>T | CA386601588 | ACADS | c.1017G>T (p.Lys339Asn) c.1005G>T (p.Lys335Asn) | |
| 12 | g.120738906_120738920del | CA2621369402 | ACADS | c.1020_1029+5del c.1008_1017+5del | gnomAD v4 |
| 12 | g.120738904C>A | CA386601590 | ACADS | c.1018C>A (p.Pro340Thr) c.1006C>A (p.Pro336Thr) | |
| 12 | g.120738904C>G | CA386601591 | ACADS | c.1018C>G (p.Pro340Ala) c.1006C>G (p.Pro336Ala) | gnomAD v4 |
| 12 | g.120738904C>T | CA386601592 | ACADS | c.1018C>T (p.Pro340Ser) c.1006C>T (p.Pro336Ser) | gnomAD v4 |
| 12 | g.120738905C>A | CA386601593 | ACADS | c.1019C>A (p.Pro340His) c.1007C>A (p.Pro336His) | |
| 12 | g.120738905C= | CA2067555572 | ACADS | c.1019C= (p.Pro340=) c.1007C= (p.Pro336=) | |
| 12 | g.120738905C>G | CA6831160 | ACADS | c.1019C>G (p.Pro340Arg) c.1007C>G (p.Pro336Arg) | dbSNP ExAC gnomAD v4 |
| 12 | g.120738905C>T | CA386601594 | ACADS | c.1019C>T (p.Pro340Leu) c.1007C>T (p.Pro336Leu) | dbSNP |
| 12 | g.120738906T>A | CA482146859 | ACADS | c.1020T>A (p.Pro340=) c.1008T>A (p.Pro336=) | |
| 12 | g.120738906T>C | CA482146861 | ACADS | c.1020T>C (p.Pro340=) c.1008T>C (p.Pro336=) | gnomAD v4 |
| 12 | g.120738906T>G | CA482146860 | ACADS | c.1020T>G (p.Pro340=) c.1008T>G (p.Pro336=) | |
| 12 | g.120738907T>A | CA386601597 | ACADS | c.1021T>A (p.Phe341Ile) c.1009T>A (p.Phe337Ile) | |
| 12 | g.120738907T>C | CA386601595 | ACADS | c.1021T>C (p.Phe341Leu) c.1009T>C (p.Phe337Leu) | |
| 12 | g.120738907T>G | CA386601596 | ACADS | c.1021T>G (p.Phe341Val) c.1009T>G (p.Phe337Val) | |
| 12 | g.120738908T>A | CA386601598 | ACADS | c.1022T>A (p.Phe341Tyr) c.1010T>A (p.Phe337Tyr) | |
| 12 | g.120738908T>C | CA386601599 | ACADS | c.1022T>C (p.Phe341Ser) c.1010T>C (p.Phe337Ser) | dbSNP gnomAD v4 |
| 12 | g.120738908T>G | CA386601600 | ACADS | c.1022T>G (p.Phe341Cys) c.1010T>G (p.Phe337Cys) | |
| 12 | g.120738908T= | CA2067555573 | ACADS | c.1022T= (p.Phe341=) c.1010T= (p.Phe337=) | |
| 12 | g.120738909C>A | CA386601601 | ACADS | c.1023C>A (p.Phe341Leu) c.1011C>A (p.Phe337Leu) | |
| 12 | g.120738909C>G | CA386601602 | ACADS | c.1023C>G (p.Phe341Leu) c.1011C>G (p.Phe337Leu) | |
| 12 | g.120738909C>T | CA482146863 | ACADS | c.1023C>T (p.Phe341=) c.1011C>T (p.Phe337=) | COSMIC |
| 12 | g.120738910A>C | CA386601603 | ACADS | c.1024A>C (p.Ile342Leu) c.1012A>C (p.Ile338Leu) | gnomAD v4 |
| 12 | g.120738910A>G | CA386601604 | ACADS | c.1024A>G (p.Ile342Val) c.1012A>G (p.Ile338Val) | |
| 12 | g.120738910A>T | CA386601605 | ACADS | c.1024A>T (p.Ile342Phe) c.1012A>T (p.Ile338Phe) | |
| 12 | g.120738910_120738911insGAATCGCATGGCCTTCGGGGCGCCCC | CA2797705097 | ACADS | c.1024_1025insGAATCGCATGGCCTTCGGGGCGCCCC (p.Ile342ArgfsTer?) c.1012_1013insGAATCGCATGGCCTTCGGGGCGCCCC (p.Ile338ArgfsTer?) | |
| 12 | g.120738911T>A | CA386601606 | ACADS | c.1025T>A (p.Ile342Asn) c.1013T>A (p.Ile338Asn) | |
| 12 | g.120738911T>C | CA6831161 | ACADS | c.1025T>C (p.Ile342Thr) c.1013T>C (p.Ile338Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738911T>G | CA386601607 | ACADS | c.1025T>G (p.Ile342Ser) c.1013T>G (p.Ile338Ser) | |
| 12 | g.120738911T= | CA2067555574 | ACADS | c.1025T= (p.Ile342=) c.1013T= (p.Ile338=) | |
| 12 | g.120738912C>A | CA482146866 | ACADS | c.1026C>A (p.Ile342=) c.1014C>A (p.Ile338=) | gnomAD v4 |
| 12 | g.120738912C>G | CA386601608 | ACADS | c.1026C>G (p.Ile342Met) c.1014C>G (p.Ile338Met) | gnomAD v4 COSMIC |
| 12 | g.120738912C>T | CA482146867 | ACADS | c.1026C>T (p.Ile342=) c.1014C>T (p.Ile338=) | |
| 12 | g.120738913A= | CA2067555575 | ACADS | c.1027A= (p.Lys343=) c.1015A= (p.Lys339=) | |
| 12 | g.120738913A>C | CA386601609 | ACADS | c.1027A>C (p.Lys343Gln) c.1015A>C (p.Lys339Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120738913A>G | CA386601611 | ACADS | c.1027A>G (p.Lys343Glu) c.1015A>G (p.Lys339Glu) | dbSNP |
| 12 | g.120738913A>T | CA386601610 | ACADS | c.1027A>T (p.Lys343Ter) c.1015A>T (p.Lys339Ter) | |
| 12 | g.120738913_120738914insCCAAGCTCC | CA2797705098 | ACADS | c.1027_1028insCCAAGCTCC (p.Lys343delinsThrLysLeuGln) c.1015_1016insCCAAGCTCC (p.Lys339delinsThrLysLeuGln) | |
| 12 | g.120738914A= | CA2067555576 | ACADS | c.1028A= (p.Lys343=) c.1016A= (p.Lys339=) | |
| 12 | g.120738914A>C | CA386601612 | ACADS | c.1028A>C (p.Lys343Thr) c.1016A>C (p.Lys339Thr) | |
| 12 | g.120738914A>G | CA386601613 | ACADS | c.1028A>G (p.Lys343Arg) c.1016A>G (p.Lys339Arg) | ClinVar dbSNP |
| 12 | g.120738914A>T | CA386601614 | ACADS | c.1028A>T (p.Lys343Met) c.1016A>T (p.Lys339Met) | |
| 12 | g.120738915G>A | CA6831162 | ACADS | c.1029G>A (p.Lys343=) c.1017G>A (p.Lys339=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738915G>C | CA386601615 | ACADS | c.1029G>C (p.Lys343Asn) c.1017G>C (p.Lys339Asn) | |
| 12 | g.120738915G= | CA2067555577 | ACADS | c.1029G= (p.Lys343=) c.1017G= (p.Lys339=) | |
| 12 | g.120738915G>T | CA386601616 | ACADS | c.1029G>T (p.Lys343Asn) c.1017G>T (p.Lys339Asn) | |
| 12 | g.120738916G>A | CA16041572 | ACADS | c.1029+1G>A (n.1029+1G>A) c.1017+1G>A (n.1017+1G>A) | ClinVar dbSNP |
| 12 | g.120738916G>C | CA386601617 | ACADS | c.1029+1G>C (n.1029+1G>C) c.1017+1G>C (n.1017+1G>C) | |
| 12 | g.120738916G= | CA2067555578 | ACADS | c.1029+1G= (n.1029+1G=) c.1017+1G= (n.1017+1G=) | |
| 12 | g.120738916G>T | CA386601618 | ACADS | c.1029+1G>T (n.1029+1G>T) c.1017+1G>T (n.1017+1G>T) | |
| 12 | g.120738917T>A | CA386601619 | ACADS | c.1029+2T>A (n.1029+2T>A) c.1017+2T>A (n.1017+2T>A) | |
| 12 | g.120738917T>C | CA386601620 | ACADS | c.1029+2T>C (n.1029+2T>C) c.1017+2T>C (n.1017+2T>C) | |
| 12 | g.120738917T>G | CA386601621 | ACADS | c.1029+2T>G (n.1029+2T>G) c.1017+2T>G (n.1017+2T>G) | |
| 12 | g.120738918G>A | CA2575321520 | ACADS | c.1029+3G>A (n.1029+3G>A) c.1017+3G>A (n.1017+3G>A) | |
| 12 | g.120738919C>G | CA2621369479 | ACADS | c.1029+4C>G (n.1029+4C>G) c.1017+4C>G (n.1017+4C>G) | gnomAD v4 |
| 12 | g.120738921C>T | CA2621369483 | ACADS | c.1029+6C>T (n.1029+6C>T) c.1017+6C>T (n.1017+6C>T) | gnomAD v4 |
| 12 | g.120738921_120738922delinsCA | CA2067555579 | ACADS | c.1029+6_1029+7delinsCA (n.1029+6_1029+7delinsCA) c.1017+6_1017+7delinsCA (n.1017+6_1017+7delinsCA) | |
| 12 | g.120738922del | CA6831163 | ACADS | c.1029+7del (n.1029+7del) c.1017+7del (n.1017+7del) | dbSNP ExAC gnomAD v2 |
| 12 | g.120738923C>A | CA608059989 | ACADS | c.1029+8C>A (n.1029+8C>A) c.1017+8C>A (n.1017+8C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120738923C= | CA2067555581 | ACADS | c.1029+8C= (n.1029+8C=) c.1017+8C= (n.1017+8C=) | |
| 12 | g.120738923C>G | CA2067555580 | ACADS | c.1029+8C>G (n.1029+8C>G) c.1017+8C>G (n.1017+8C>G) | dbSNP |
| 12 | g.120738923_120738924insTG | CA6831164 | ACADS | c.1029+8_1029+9insTG (n.1029+8_1029+9insTG) c.1017+8_1017+9insTG (n.1017+8_1017+9insTG) | dbSNP ExAC gnomAD v2 |
| 12 | g.120738924A= | CA2067555582 | ACADS | c.1029+9A= (n.1029+9A=) c.1017+9A= (n.1017+9A=) | |
| 12 | g.120738924A>G | CA6831165 | ACADS | c.1029+9A>G (n.1029+9A>G) c.1017+9A>G (n.1017+9A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120738924A>T | CA6831166 | ACADS | c.1029+9A>T (n.1029+9A>T) c.1017+9A>T (n.1017+9A>T) | dbSNP ExAC gnomAD v2 |
| 12 | g.120738924_120738925delinsAG | CA2067555583 | ACADS | c.1029+9_1029+10delinsAG (n.1029+9_1029+10delinsAG) c.1017+9_1017+10delinsAG (n.1017+9_1017+10delinsAG) | |
| 12 | g.120738925G>A | CA244494863 | ACADS | c.1029+10G>A (n.1029+10G>A) c.1017+10G>A (n.1017+10G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738925G= | CA2067555584 | ACADS | c.1029+10G= (n.1029+10G=) c.1017+10G= (n.1017+10G=) | |
| 12 | g.120738928del | CA244494839 | ACADS | c.1029+13del (n.1029+13del) c.1017+13del (n.1017+13del) | dbSNP |
| 12 | g.120738926G>A | CA2621369498 | ACADS | c.1029+11G>A (n.1029+11G>A) c.1017+11G>A (n.1017+11G>A) | gnomAD v4 |
| 12 | g.120738926G= | CA2067555585 | ACADS | c.1029+11G= (n.1029+11G=) c.1017+11G= (n.1017+11G=) | |
| 12 | g.120738926G>T | CA244494872 | ACADS | c.1029+11G>T (n.1029+11G>T) c.1017+11G>T (n.1017+11G>T) | dbSNP gnomAD v4 |
| 12 | g.120738928G>A | CA2621369505 | ACADS | c.1029+13G>A (n.1029+13G>A) c.1017+13G>A (n.1017+13G>A) | gnomAD v4 |
| 12 | g.120738928G= | CA2067555586 | ACADS | c.1029+13G= (n.1029+13G=) c.1017+13G= (n.1017+13G=) | |
| 12 | g.120738928G>T | CA6831167 | ACADS | c.1029+13G>T (n.1029+13G>T) c.1017+13G>T (n.1017+13G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738928_120738937delinsGTCCCCGAGC | CA2067555587 | ACADS | c.1029+13_1029+22delinsGTCCCCGAGC (n.1029+13_1029+22delinsGTCCCCGAGC) c.1017+13_1017+22delinsGTCCCCGAGC (n.1017+13_1017+22delinsGTCCCCGAGC) | |
| 12 | g.120738929_120738937del | CA6831168 | ACADS | c.1029+14_1029+22del (n.1029+14_1029+22del) c.1017+14_1017+22del (n.1017+14_1017+22del) | dbSNP ExAC gnomAD v2 |
| 12 | g.120738930C= | CA2067555588 | ACADS | c.1029+15C= (n.1029+15C=) c.1017+15C= (n.1017+15C=) | |
| 12 | g.120738930C>T | CA608059990 | ACADS | c.1029+15C>T (n.1029+15C>T) c.1017+15C>T (n.1017+15C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120738930_120738933del | CA2621369511 | ACADS | c.1029+15_1029+18del (n.1029+15_1029+18del) c.1017+15_1017+18del (n.1017+15_1017+18del) | gnomAD v4 |
| 12 | g.120738931C>A | CA608059991 | ACADS | c.1029+16C>A (n.1029+16C>A) c.1017+16C>A (n.1017+16C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738931C= | CA2067555589 | ACADS | c.1029+16C= (n.1029+16C=) c.1017+16C= (n.1017+16C=) | |
| 12 | g.120738931C>T | CA2797705101 | ACADS | c.1029+16C>T (n.1029+16C>T) c.1017+16C>T (n.1017+16C>T) | |
| 12 | g.120738932C>A | CA2575321521 | ACADS | c.1029+17C>A (n.1029+17C>A) c.1017+17C>A (n.1017+17C>A) | |
| 12 | g.120738932C>G | CA2621369523 | ACADS | c.1029+17C>G (n.1029+17C>G) c.1017+17C>G (n.1017+17C>G) | gnomAD v4 |
| 12 | g.120738933C= | CA2067555590 | ACADS | c.1029+18C= (n.1029+18C=) c.1017+18C= (n.1017+18C=) | |
| 12 | g.120738933C>T | CA6831169 | ACADS | c.1029+18C>T (n.1029+18C>T) c.1017+18C>T (n.1017+18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738934G>A | CA6831170 | ACADS | c.1029+19G>A (n.1029+19G>A) c.1017+19G>A (n.1017+19G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738934G>C | CA2621369534 | ACADS | c.1029+19G>C (n.1029+19G>C) c.1017+19G>C (n.1017+19G>C) | gnomAD v4 |
| 12 | g.120738934G= | CA2067555591 | ACADS | c.1029+19G= (n.1029+19G=) c.1017+19G= (n.1017+19G=) | |
| 12 | g.120738934dup | CA2621369533 | ACADS | c.1029+19dup (n.1029+19dup) c.1017+19dup (n.1017+19dup) | gnomAD v4 |
| 12 | g.120738935A= | CA2067555592 | ACADS | c.1029+20A= (n.1029+20A=) c.1017+20A= (n.1017+20A=) | |
| 12 | g.120738935A>C | CA6831171 | ACADS | c.1029+20A>C (n.1029+20A>C) c.1017+20A>C (n.1017+20A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120738935A>G | CA2621369542 | ACADS | c.1029+20A>G (n.1029+20A>G) c.1017+20A>G (n.1017+20A>G) | gnomAD v4 |
| 12 | g.120738936G>A | CA2621369544 | ACADS | c.1029+21G>A (n.1029+21G>A) c.1017+21G>A (n.1017+21G>A) | gnomAD v4 |
| 12 | g.120738937C>T | CA2621369545 | ACADS | c.1029+22C>T (n.1029+22C>T) c.1017+22C>T (n.1017+22C>T) | gnomAD v4 |
| 12 | g.120738939A>G | CA2621369546 | ACADS | c.1029+24A>G (n.1029+24A>G) c.1017+24A>G (n.1017+24A>G) | gnomAD v4 |
| 12 | g.120738939_120738942delinsATGG | CA2067555593 | ACADS | c.1029+24_1029+27delinsATGG (n.1029+24_1029+27delinsATGG) c.1017+24_1017+27delinsATGG (n.1017+24_1017+27delinsATGG) | |
| 12 | g.120738940T>C | CA2621369547 | ACADS | c.1029+25T>C (n.1029+25T>C) c.1017+25T>C (n.1017+25T>C) | gnomAD v4 |
| 12 | g.120738940_120738942del | CA6831172 | ACADS | c.1029+25_1029+27del (n.1029+25_1029+27del) c.1017+25_1017+27del (n.1017+25_1017+27del) | dbSNP ExAC gnomAD v2 |
| 12 | g.120738942G>A | CA608059992 | ACADS | c.1029+27G>A (n.1029+27G>A) c.1017+27G>A (n.1017+27G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120738942G= | CA2067555594 | ACADS | c.1029+27G= (n.1029+27G=) c.1017+27G= (n.1017+27G=) | |
| 12 | g.120738943C>T | CA2621369548 | ACADS | c.1029+28C>T (n.1029+28C>T) c.1017+28C>T (n.1017+28C>T) | gnomAD v4 |
| 12 | g.120738943_120738958delinsCCCAGAATGTGGTGGG | CA2067555595 | ACADS | c.1029+28_1029+43delinsCCCAGAATGTGGTGGG (n.1029+28_1029+43delinsCCCAGAATGTGGTGGG) c.1017+28_1017+43delinsCCCAGAATGTGGTGGG (n.1017+28_1017+43delinsCCCAGAATGTGGTGGG) | |
| 12 | g.120738944C>T | CA2621369556 | ACADS | c.1029+29C>T (n.1029+29C>T) c.1017+29C>T (n.1017+29C>T) | gnomAD v4 |
| 12 | g.120738946_120738960del | CA608059993 | ACADS | c.1029+31_1029+45del (n.1029+31_1029+45del) c.1017+31_1017+45del (n.1017+31_1017+45del) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.120738946A= | CA2067555596 | ACADS | c.1029+31A= (n.1029+31A=) c.1017+31A= (n.1017+31A=) | |
| 12 | g.120738946A>T | CA608059994 | ACADS | c.1029+31A>T (n.1029+31A>T) c.1017+31A>T (n.1017+31A>T) | dbSNP gnomAD v2 |
| 12 | g.120738947G>A | CA952544044 | ACADS | c.1029+32G>A (n.1029+32G>A) c.1017+32G>A (n.1017+32G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.120738947G>C | CA2621369560 | ACADS | c.1029+32G>C (n.1029+32G>C) c.1017+32G>C (n.1017+32G>C) | gnomAD v4 |
| 12 | g.120738947G= | CA2067555597 | ACADS | c.1029+32G= (n.1029+32G=) c.1017+32G= (n.1017+32G=) | |
| 12 | g.120738947G>T | CA2727167584 | ACADS | c.1029+32G>T (n.1029+32G>T) c.1017+32G>T (n.1017+32G>T) | dbSNP |