Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.120738866_120738869del | CA912973555 | ACADS | c.980_983del (p.Leu327ProfsTer7) c.968_971del (p.Leu323ProfsTer7) | |
12 | g.120738866_120738869delinsTGAC | CA2067555552 | ACADS | c.980_983delinsTGAC (p.Leu327=) c.968_971delinsTGAC (p.Leu323=) | |
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=) |