Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.120736958A= | CA2067553095 | ACADS | c.211-28A= (n.211-28A=) n.323-28A= | |
12 | g.120736958A>G | CA607880669 | ACADS | c.211-28A>G (n.211-28A>G) n.323-28A>G | dbSNP gnomAD v2 |
12 | g.120736959T>C | CA2621365657 | ACADS | c.211-27T>C (n.211-27T>C) n.323-27T>C | gnomAD v4 |
12 | g.120736960G>A | CA2575321353 | ACADS | c.211-26G>A (n.211-26G>A) n.323-26G>A | gnomAD v4 |
12 | g.120736960G>T | CA2575321354 | ACADS | c.211-26G>T (n.211-26G>T) n.323-26G>T | |
12 | g.120736961G>A | CA2621365659 | ACADS | c.211-25G>A (n.211-25G>A) n.323-25G>A | gnomAD v4 |
12 | g.120736961G>T | CA2621365660 | ACADS | c.211-25G>T (n.211-25G>T) n.323-25G>T | gnomAD v4 |
12 | g.120736962C>A | CA2621365665 | ACADS | c.211-24C>A (n.211-24C>A) n.323-24C>A | gnomAD v4 |
12 | g.120736962C= | CA2067553096 | ACADS | c.211-24C= (n.211-24C=) n.323-24C= | |
12 | g.120736962C>G | CA607880670 | ACADS | c.211-24C>G (n.211-24C>G) n.323-24C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120736962C>T | CA6830791 | ACADS | c.211-24C>T (n.211-24C>T) n.323-24C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120736963G>A | CA6830792 | ACADS | c.211-23G>A (n.211-23G>A) n.323-23G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120736963G= | CA2067553098 | ACADS | c.211-23G= (n.211-23G=) n.323-23G= | |
12 | g.120736963G>T | CA2621365712 | ACADS | c.211-23G>T (n.211-23G>T) n.323-23G>T | gnomAD v4 |
12 | g.120736965G>A | CA2621365716 | ACADS | c.211-21G>A (n.211-21G>A) n.323-21G>A | gnomAD v4 |
12 | g.120736965G>T | CA2621365717 | ACADS | c.211-21G>T (n.211-21G>T) n.323-21G>T | gnomAD v4 |
12 | g.120736966C>A | CA2621365722 | ACADS | c.211-20C>A (n.211-20C>A) n.323-20C>A | gnomAD v4 |
12 | g.120736966C= | CA2067553100 | ACADS | c.211-20C= (n.211-20C=) n.323-20C= | |
12 | g.120736966C>T | CA607880671 | ACADS | c.211-20C>T (n.211-20C>T) n.323-20C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120736967C>A | CA2621365724 | ACADS | c.211-19C>A (n.211-19C>A) n.323-19C>A | gnomAD v4 |
12 | g.120736967C= | CA2067553102 | ACADS | c.211-19C= (n.211-19C=) n.323-19C= | |
12 | g.120736967C>G | CA2621365725 | ACADS | c.211-19C>G (n.211-19C>G) n.323-19C>G | gnomAD v4 |
12 | g.120736967C>T | CA684416032 | ACADS | c.211-19C>T (n.211-19C>T) n.323-19C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120736968G>A | CA6830793 | ACADS | c.211-18G>A (n.211-18G>A) n.323-18G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120736968G= | CA2067553103 | ACADS | c.211-18G= (n.211-18G=) n.323-18G= | |
12 | g.120736968G>T | CA2621365734 | ACADS | c.211-18G>T (n.211-18G>T) n.323-18G>T | gnomAD v4 |
12 | g.120736969T>C | CA2575321357 | ACADS | c.211-17T>C (n.211-17T>C) n.323-17T>C | gnomAD v4 |
12 | g.120736970C>A | CA2621365808 | ACADS | c.211-16C>A (n.211-16C>A) n.323-16C>A | gnomAD v4 |
12 | g.120736971C>A | CA2621365813 | ACADS | c.211-15C>A (n.211-15C>A) n.323-15C>A | gnomAD v4 |
12 | g.120736971C>T | CA2621365814 | ACADS | c.211-15C>T (n.211-15C>T) n.323-15C>T | gnomAD v4 |
12 | g.120736973T>A | CA2067553105 | ACADS | c.211-13T>A (n.211-13T>A) n.323-13T>A | dbSNP gnomAD v4 |
12 | g.120736973T>G | CA2621365815 | ACADS | c.211-13T>G (n.211-13T>G) n.323-13T>G | gnomAD v4 |
12 | g.120736973T= | CA2067553104 | ACADS | c.211-13T= (n.211-13T=) n.323-13T= | |
12 | g.120736974C>A | CA2621365819 | ACADS | c.211-12C>A (n.211-12C>A) n.323-12C>A | gnomAD v4 |
12 | g.120736974C= | CA2067553107 | ACADS | c.211-12C= (n.211-12C=) n.323-12C= | |
12 | g.120736974C>T | CA607880672 | ACADS | c.211-12C>T (n.211-12C>T) n.323-12C>T | dbSNP gnomAD v2 |
12 | g.120736975C>A | CA2621365823 | ACADS | c.211-11C>A (n.211-11C>A) n.323-11C>A | gnomAD v4 |
12 | g.120736975C= | CA2067553108 | ACADS | c.211-11C= (n.211-11C=) n.323-11C= | |
12 | g.120736975C>T | CA607880673 | ACADS | c.211-11C>T (n.211-11C>T) n.323-11C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120736976C>A | CA2621365825 | ACADS | c.211-10C>A (n.211-10C>A) n.323-10C>A | gnomAD v4 |
12 | g.120736976C= | CA2067553109 | ACADS | c.211-10C= (n.211-10C=) n.323-10C= | |
12 | g.120736976C>G | CA2621365830 | ACADS | c.211-10C>G (n.211-10C>G) n.323-10C>G | gnomAD v4 |
12 | g.120736976C>T | CA952542725 | ACADS | c.211-10C>T (n.211-10C>T) n.323-10C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120736977T>C | CA2621365833 | ACADS | c.211-9T>C (n.211-9T>C) n.323-9T>C | gnomAD v4 |
12 | g.120736979T>A | CA2621365835 | ACADS | c.211-7T>A (n.211-7T>A) n.323-7T>A | gnomAD v4 |
12 | g.120736980G>A | CA2621365836 | ACADS | c.211-6G>A (n.211-6G>A) n.323-6G>A | gnomAD v4 |
12 | g.120736980G>C | CA2797719173 | ACADS | c.211-6G>C (n.211-6G>C) n.323-6G>C | |
12 | g.120736980G>T | CA2621365839 | ACADS | c.211-6G>T (n.211-6G>T) n.323-6G>T | gnomAD v4 |
12 | g.120736981C>A | CA2067553112 | ACADS | c.211-5C>A (n.211-5C>A) n.323-5C>A | dbSNP |
12 | g.120736981C= | CA2067553111 | ACADS | c.211-5C= (n.211-5C=) n.323-5C= | |
12 | g.120736981C>T | CA2621365844 | ACADS | c.211-5C>T (n.211-5C>T) n.323-5C>T | gnomAD v4 |
12 | g.120736983del | CA2621365842 | ACADS | c.211-3del (n.211-3del) n.323-3del | gnomAD v4 |
12 | g.120736982C= | CA2067553113 | ACADS | c.211-4C= (n.211-4C=) n.323-4C= | |
12 | g.120736982C>G | CA2797719174 | ACADS | c.211-4C>G (n.211-4C>G) n.323-4C>G | |
12 | g.120736982C>T | CA6830794 | ACADS | c.211-4C>T (n.211-4C>T) n.323-4C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120736983C>A | CA2621365852 | ACADS | c.211-3C>A (n.211-3C>A) n.323-3C>A | gnomAD v4 |
12 | g.120736984A= | CA2067553114 | ACADS | c.211-2A= (n.211-2A=) n.323-2A= | |
12 | g.120736984A>C | CA386613916 | ACADS | c.211-2A>C (n.211-2A>C) n.323-2A>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.120736984A>G | CA386613917 | ACADS | c.211-2A>G (n.211-2A>G) n.323-2A>G | ClinVar gnomAD v4 |
12 | g.120736984A>T | CA386613918 | ACADS | c.211-2A>T (n.211-2A>T) n.323-2A>T | |
12 | g.120736985G>A | CA16041564 | ACADS | c.211-1G>A (n.211-1G>A) n.323-1G>A | ClinVar dbSNP |
12 | g.120736985G>C | CA386613919 | ACADS | c.211-1G>C (n.211-1G>C) n.323-1G>C | |
12 | g.120736985G= | CA2067553116 | ACADS | c.211-1G= (n.211-1G=) n.323-1G= | |
12 | g.120736985G>T | CA386613920 | ACADS | c.211-1G>T (n.211-1G>T) n.323-1G>T | gnomAD v4 |
12 | g.120736986G>A | CA386613923 | ACADS | c.211G>A (p.Val71Met) n.323G>A | dbSNP |
12 | g.120736986G>C | CA386613921 | ACADS | c.211G>C (p.Val71Leu) n.323G>C | |
12 | g.120736986G= | CA2067553118 | ACADS | c.211G= (p.Val71=) n.323G= | |
12 | g.120736986G>T | CA386613922 | ACADS | c.211G>T (p.Val71Leu) n.323G>T | gnomAD v4 |
12 | g.120736987T>A | CA386613924 | ACADS | c.212T>A (p.Val71Glu) n.324T>A | |
12 | g.120736987T>C | CA386613925 | ACADS | c.212T>C (p.Val71Ala) n.324T>C | COSMIC |
12 | g.120736987T>G | CA386613926 | ACADS | c.212T>G (p.Val71Gly) n.324T>G | |
12 | g.120736987_120736990delinsTGAA | CA2067553120 | ACADS | c.212_215delinsTGAA (p.Val71=) n.324_327delinsTGAA | |
12 | g.120736988G>A | CA482107166 | ACADS | c.213G>A (p.Val71=) n.325G>A | |
12 | g.120736988G>C | CA482107163 | ACADS | c.213G>C (p.Val71=) n.325G>C | |
12 | g.120736988G>T | CA482107161 | ACADS | c.213G>T (p.Val71=) n.325G>T | gnomAD v4 |
12 | g.120736993_120736995del | CA916083337 | ACADS | c.218_220del (p.Lys73del) n.330_332del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.120736989A>C | CA386613927 | ACADS | c.214A>C (p.Lys72Gln) n.326A>C | |
12 | g.120736989A>G | CA386613928 | ACADS | c.214A>G (p.Lys72Glu) n.326A>G | |
12 | g.120736989A>T | CA386613929 | ACADS | c.214A>T (p.Lys72Ter) n.326A>T | |
12 | g.120736990del | CA2621365861 | ACADS | c.215del (p.Lys72ArgfsTer?) n.327del | gnomAD v4 |
12 | g.120736990A= | CA2067553123 | ACADS | c.215A= (p.Lys72=) n.327A= | |
12 | g.120736990A>C | CA386613930 | ACADS | c.215A>C (p.Lys72Thr) n.327A>C | |
12 | g.120736990A>G | CA6830795 | ACADS | c.215A>G (p.Lys72Arg) n.327A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120736990A>T | CA386613931 | ACADS | c.215A>T (p.Lys72Met) n.327A>T | |
12 | g.120736991G>A | CA482107175 | ACADS | c.216G>A (p.Lys72=) n.328G>A | |
12 | g.120736991G>C | CA386613932 | ACADS | c.216G>C (p.Lys72Asn) n.328G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120736991G= | CA2067553125 | ACADS | c.216G= (p.Lys72=) n.328G= | |
12 | g.120736991G>T | CA386613933 | ACADS | c.216G>T (p.Lys72Asn) n.328G>T | gnomAD v4 |
12 | g.120736992A>C | CA386613936 | ACADS | c.217A>C (p.Lys73Gln) n.329A>C | |
12 | g.120736992A>G | CA386613935 | ACADS | c.217A>G (p.Lys73Glu) n.329A>G | |
12 | g.120736992A>T | CA386613934 | ACADS | c.217A>T (p.Lys73Ter) n.329A>T | |
12 | g.120736993A= | CA2067553127 | ACADS | c.218A= (p.Lys73=) n.330A= | |
12 | g.120736993A>C | CA386613937 | ACADS | c.218A>C (p.Lys73Thr) n.330A>C | |
12 | g.120736993A>G | CA386613938 | ACADS | c.218A>G (p.Lys73Arg) n.330A>G | |
12 | g.120736993A>T | CA6830796 | ACADS | c.218A>T (p.Lys73Met) n.330A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120736994G>A | CA482107186 | ACADS | c.219G>A (p.Lys73=) n.331G>A | |
12 | g.120736994G>C | CA386613939 | ACADS | c.219G>C (p.Lys73Asn) n.331G>C | |
12 | g.120736994G= | CA2067553129 | ACADS | c.219G= (p.Lys73=) n.331G= | |
12 | g.120736994G>T | CA386613940 | ACADS | c.219G>T (p.Lys73Asn) n.331G>T | gnomAD v4 |
12 | g.120736995A>C | CA386613943 | ACADS | c.220A>C (p.Met74Leu) n.332A>C | |
12 | g.120736995A>G | CA386613942 | ACADS | c.220A>G (p.Met74Val) n.332A>G | |
12 | g.120736995A>T | CA386613941 | ACADS | c.220A>T (p.Met74Leu) n.332A>T | |
12 | g.120736996_120736997insCCAT | CA607880674 | ACADS | c.221_222insCCAT (p.Met74IlefsTer?) n.333_334insCCAT | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120736996T>A | CA6830797 | ACADS | c.221T>A (p.Met74Lys) n.333T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120736996T>C | CA386613944 | ACADS | c.221T>C (p.Met74Thr) n.333T>C | |
12 | g.120736996T>G | CA386613945 | ACADS | c.221T>G (p.Met74Arg) n.333T>G | |
12 | g.120736996T= | CA2067553134 | ACADS | c.221T= (p.Met74=) n.333T= | |
12 | g.120736997G>A | CA386613946 | ACADS | c.222G>A (p.Met74Ile) n.334G>A | ClinVar |
12 | g.120736997G>C | CA386613947 | ACADS | c.222G>C (p.Met74Ile) n.334G>C | gnomAD v4 |
12 | g.120736997G>T | CA386613948 | ACADS | c.222G>T (p.Met74Ile) n.334G>T | gnomAD v4 |
12 | g.120736999del | CA2580085886 | ACADS | c.224del (p.Gly75AlafsTer?) n.336del | ClinVar |
12 | g.120736998G>A | CA386613949 | ACADS | c.223G>A (p.Gly75Ser) n.335G>A | |
12 | g.120736998G>C | CA386613951 | ACADS | c.223G>C (p.Gly75Arg) n.335G>C | |
12 | g.120736998G>T | CA386613950 | ACADS | c.223G>T (p.Gly75Cys) n.335G>T | |
12 | g.120736999G>A | CA386613952 | ACADS | c.224G>A (p.Gly75Asp) n.336G>A | |
12 | g.120736999G>C | CA386613953 | ACADS | c.224G>C (p.Gly75Ala) n.336G>C | |
12 | g.120736999G>T | CA386613954 | ACADS | c.224G>T (p.Gly75Val) n.336G>T | gnomAD v4 COSMIC |
12 | g.120737000C>A | CA482107208 | ACADS | c.225C>A (p.Gly75=) n.337C>A | gnomAD v4 |
12 | g.120737000C= | CA2067553136 | ACADS | c.225C= (p.Gly75=) n.337C= | |
12 | g.120737000C>G | CA482107210 | ACADS | c.225C>G (p.Gly75=) n.337C>G | |
12 | g.120737000C>T | CA6830798 | ACADS | c.225C>T (p.Gly75=) n.337C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737001G>A | CA6830799 | ACADS | c.226G>A (p.Gly76Arg) n.338G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737001G>C | CA386613955 | ACADS | c.226G>C (p.Gly76Arg) n.338G>C | |
12 | g.120737001G= | CA2067553138 | ACADS | c.226G= (p.Gly76=) n.338G= | |
12 | g.120737001G>T | CA386613956 | ACADS | c.226G>T (p.Gly76Trp) n.338G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.120737002G>A | CA386613957 | ACADS | c.227G>A (p.Gly76Glu) n.339G>A | |
12 | g.120737002G>C | CA386613958 | ACADS | c.227G>C (p.Gly76Ala) n.339G>C | |
12 | g.120737002G>T | CA386613959 | ACADS | c.227G>T (p.Gly76Val) n.339G>T | |
12 | g.120737003G>A | CA6830800 | ACADS | c.228G>A (p.Gly76=) n.340G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737003G>C | CA482107225 | ACADS | c.228G>C (p.Gly76=) n.340G>C | |
12 | g.120737003G= | CA2067553140 | ACADS | c.228G= (p.Gly76=) n.340G= | |
12 | g.120737003G>T | CA482107222 | ACADS | c.228G>T (p.Gly76=) n.340G>T | gnomAD v4 |
12 | g.120737004C>A | CA386613962 | ACADS | c.229C>A (p.Leu77Ile) n.341C>A | |
12 | g.120737004C= | CA2067553142 | ACADS | c.229C= (p.Leu77=) n.341C= | |
12 | g.120737004C>G | CA386613961 | ACADS | c.229C>G (p.Leu77Val) n.341C>G | |
12 | g.120737004C>T | CA386613960 | ACADS | c.229C>T (p.Leu77Phe) n.341C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737005T>A | CA386613964 | ACADS | c.230T>A (p.Leu77His) n.342T>A | |
12 | g.120737005T>C | CA386613963 | ACADS | c.230T>C (p.Leu77Pro) n.342T>C | |
12 | g.120737005T>G | CA386613965 | ACADS | c.230T>G (p.Leu77Arg) n.342T>G | |
12 | g.120737006T>A | CA482107234 | ACADS | c.231T>A (p.Leu77=) n.343T>A | |
12 | g.120737006T>C | CA482107235 | ACADS | c.231T>C (p.Leu77=) n.343T>C | gnomAD v4 |
12 | g.120737006T>G | CA482107237 | ACADS | c.231T>G (p.Leu77=) n.343T>G | |
12 | g.120737007G>A | CA386613966 | ACADS | c.232G>A (p.Gly78Arg) n.344G>A | |
12 | g.120737007G>C | CA6830801 | ACADS | c.232G>C (p.Gly78Arg) n.344G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737007G= | CA2067553144 | ACADS | c.232G= (p.Gly78=) n.344G= | |
12 | g.120737007G>T | CA386613967 | ACADS | c.232G>T (p.Gly78Trp) n.344G>T | |
12 | g.120737008G>A | CA386613968 | ACADS | c.233G>A (p.Gly78Glu) n.345G>A | COSMIC |
12 | g.120737008G>C | CA386613969 | ACADS | c.233G>C (p.Gly78Ala) n.345G>C | |
12 | g.120737008G>T | CA386613970 | ACADS | c.233G>T (p.Gly78Val) n.345G>T | gnomAD v4 |
12 | g.120737009G>A | CA482146345 | ACADS | c.234G>A (p.Gly78=) n.346G>A | |
12 | g.120737009G>C | CA482146344 | ACADS | c.234G>C (p.Gly78=) n.346G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737009G= | CA2067553147 | ACADS | c.234G= (p.Gly78=) n.346G= | |
12 | g.120737009G>T | CA482146343 | ACADS | c.234G>T (p.Gly78=) n.346G>T | |
12 | g.120737010C>A | CA386613971 | ACADS | c.235C>A (p.Leu79Ile) n.347C>A | COSMIC |
12 | g.120737010C>G | CA386613972 | ACADS | c.235C>G (p.Leu79Val) n.347C>G | |
12 | g.120737010C>T | CA386613973 | ACADS | c.235C>T (p.Leu79Phe) n.347C>T | COSMIC |
12 | g.120737011T>A | CA386613974 | ACADS | c.236T>A (p.Leu79His) n.348T>A | |
12 | g.120737011T>C | CA386613975 | ACADS | c.236T>C (p.Leu79Pro) n.348T>C | |
12 | g.120737011T>G | CA386613976 | ACADS | c.236T>G (p.Leu79Arg) n.348T>G | |
12 | g.120737012T>A | CA482146346 | ACADS | c.237T>A (p.Leu79=) n.349T>A | |
12 | g.120737012T>C | CA482146347 | ACADS | c.237T>C (p.Leu79=) n.349T>C | gnomAD v4 |
12 | g.120737012T>G | CA482146348 | ACADS | c.237T>G (p.Leu79=) n.349T>G | |
12 | g.120737012_120737013delinsTC | CA2067553149 | ACADS | c.237_238delinsTC (p.Leu79=) n.349_350delinsTC | |
12 | g.120737013del | CA16619447 | ACADS | c.238del (p.Leu80TrpfsTer?) n.350del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.120737013C>A | CA386613977 | ACADS | c.238C>A (p.Leu80Met) n.350C>A | |
12 | g.120737013C>G | CA386613978 | ACADS | c.238C>G (p.Leu80Val) n.350C>G | |
12 | g.120737013C>T | CA482146349 | ACADS | c.238C>T (p.Leu80=) n.350C>T | |
12 | g.120737014T>A | CA386613981 | ACADS | c.239T>A (p.Leu80Gln) n.351T>A | |
12 | g.120737014T>C | CA386613980 | ACADS | c.239T>C (p.Leu80Pro) n.351T>C | |
12 | g.120737014T>G | CA386613979 | ACADS | c.239T>G (p.Leu80Arg) n.351T>G | |
12 | g.120737015G>A | CA482146350 | ACADS | c.240G>A (p.Leu80=) n.352G>A | |
12 | g.120737015G>C | CA482146351 | ACADS | c.240G>C (p.Leu80=) n.352G>C | |
12 | g.120737015G>T | CA482146352 | ACADS | c.240G>T (p.Leu80=) n.352G>T | |
12 | g.120737016del | CA2621365923 | ACADS | c.241del (p.Ala81ProfsTer?) n.353del | gnomAD v4 |
12 | g.120737016G>A | CA386613982 | ACADS | c.241G>A (p.Ala81Thr) n.353G>A | |
12 | g.120737016G>C | CA386613983 | ACADS | c.241G>C (p.Ala81Pro) n.353G>C | gnomAD v4 |
12 | g.120737016G>T | CA386613984 | ACADS | c.241G>T (p.Ala81Ser) n.353G>T | |
12 | g.120737017C>A | CA386613985 | ACADS | c.242C>A (p.Ala81Asp) n.354C>A | gnomAD v4 |
12 | g.120737017C= | CA2067553153 | ACADS | c.242C= (p.Ala81=) n.354C= | |
12 | g.120737017C>G | CA386613986 | ACADS | c.242C>G (p.Ala81Gly) n.354C>G | |
12 | g.120737017C>T | CA386613987 | ACADS | c.242C>T (p.Ala81Val) n.354C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.120737018C>A | CA482146353 | ACADS | c.243C>A (p.Ala81=) n.355C>A | |
12 | g.120737018C>G | CA482146354 | ACADS | c.243C>G (p.Ala81=) n.355C>G | |
12 | g.120737018C>T | CA482146355 | ACADS | c.243C>T (p.Ala81=) n.355C>T | ClinVar gnomAD v4 |
12 | g.120737019A= | CA2067553156 | ACADS | c.244A= (p.Met82=) n.356A= | |
12 | g.120737019A>C | CA6830802 | ACADS | c.244A>C (p.Met82Leu) n.356A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737019A>G | CA386613988 | ACADS | c.244A>G (p.Met82Val) n.356A>G | dbSNP gnomAD v4 |
12 | g.120737019A>T | CA386613989 | ACADS | c.244A>T (p.Met82Leu) n.356A>T | |
12 | g.120737020T>A | CA386613990 | ACADS | c.245T>A (p.Met82Lys) n.357T>A | |
12 | g.120737020T>C | CA386613991 | ACADS | c.245T>C (p.Met82Thr) n.357T>C | gnomAD v4 |
12 | g.120737020T>G | CA386613992 | ACADS | c.245T>G (p.Met82Arg) n.357T>G | |
12 | g.120737021G>A | CA386613995 | ACADS | c.246G>A (p.Met82Ile) n.358G>A | gnomAD v4 |
12 | g.120737021G>C | CA386613994 | ACADS | c.246G>C (p.Met82Ile) n.358G>C | |
12 | g.120737021G>T | CA386613993 | ACADS | c.246G>T (p.Met82Ile) n.358G>T | |
12 | g.120737022G>A | CA386613996 | ACADS | c.247G>A (p.Asp83Asn) n.359G>A | |
12 | g.120737022G>C | CA386613997 | ACADS | c.247G>C (p.Asp83His) n.359G>C | |
12 | g.120737022G>T | CA386613998 | ACADS | c.247G>T (p.Asp83Tyr) n.359G>T | |
12 | g.120737023A>C | CA386613999 | ACADS | c.248A>C (p.Asp83Ala) n.360A>C | |
12 | g.120737023A>G | CA386614000 | ACADS | c.248A>G (p.Asp83Gly) n.360A>G | |
12 | g.120737023A>T | CA386614001 | ACADS | c.248A>T (p.Asp83Val) n.360A>T | |
12 | g.120737024C>A | CA386614002 | ACADS | c.249C>A (p.Asp83Glu) n.361C>A | |
12 | g.120737024C= | CA2067553158 | ACADS | c.249C= (p.Asp83=) n.361C= | |
12 | g.120737024C>G | CA386614003 | ACADS | c.249C>G (p.Asp83Glu) n.361C>G | gnomAD v4 |
12 | g.120737024C>T | CA6830803 | ACADS | c.249C>T (p.Asp83=) n.361C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737025G>A | CA6830804 | ACADS | c.250G>A (p.Val84Met) n.362G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737025G>C | CA386614004 | ACADS | c.250G>C (p.Val84Leu) n.362G>C | |
12 | g.120737025G= | CA2067553160 | ACADS | c.250G= (p.Val84=) n.362G= | |
12 | g.120737025G>T | CA386614005 | ACADS | c.250G>T (p.Val84Leu) n.362G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737026T>A | CA386614008 | ACADS | c.251T>A (p.Val84Glu) n.363T>A | |
12 | g.120737026T>C | CA386614007 | ACADS | c.251T>C (p.Val84Ala) n.363T>C | |
12 | g.120737026T>G | CA386614006 | ACADS | c.251T>G (p.Val84Gly) n.363T>G | |
12 | g.120737027G>A | CA482146356 | ACADS | c.252G>A (p.Val84=) n.364G>A | gnomAD v4 |
12 | g.120737027G>C | CA482146357 | ACADS | c.252G>C (p.Val84=) n.364G>C | |
12 | g.120737027G>T | CA482146358 | ACADS | c.252G>T (p.Val84=) n.364G>T | |
12 | g.120737027_120737028delinsGC | CA2067553162 | ACADS | c.252_253delinsGC (p.Val84=) n.364_365delinsGC | |
12 | g.120737028C>A | CA386614009 | ACADS | c.253C>A (p.Pro85Thr) n.365C>A | COSMIC |
12 | g.120737028C= | CA2067553165 | ACADS | c.253C= (p.Pro85=) n.365C= | |
12 | g.120737028C>G | CA386614010 | ACADS | c.253C>G (p.Pro85Ala) n.365C>G | |
12 | g.120737028C>T | CA386614011 | ACADS | c.253C>T (p.Pro85Ser) n.365C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737030del | CA6830805 | ACADS | c.255del (p.Glu86ArgfsTer?) n.367del | dbSNP ExAC gnomAD v2 |
12 | g.120737029C>A | CA386614012 | ACADS | c.254C>A (p.Pro85His) n.366C>A | |
12 | g.120737029C= | CA2067553167 | ACADS | c.254C= (p.Pro85=) n.366C= | |
12 | g.120737029C>G | CA386614013 | ACADS | c.254C>G (p.Pro85Arg) n.366C>G | dbSNP gnomAD v4 |
12 | g.120737029C>T | CA386614014 | ACADS | c.254C>T (p.Pro85Leu) n.366C>T | |
12 | g.120737030C>A | CA482146359 | ACADS | c.255C>A (p.Pro85=) n.367C>A | gnomAD v4 |
12 | g.120737030C= | CA2067553169 | ACADS | c.255C= (p.Pro85=) n.367C= | |
12 | g.120737030C>G | CA244521405 | ACADS | c.255C>G (p.Pro85=) n.367C>G | dbSNP |
12 | g.120737030C>T | CA6830806 | ACADS | c.255C>T (p.Pro85=) n.367C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737031G>A | CA6830807 | ACADS | c.256G>A (p.Glu86Lys) n.368G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737031G>C | CA386614015 | ACADS | c.256G>C (p.Glu86Gln) n.368G>C | |
12 | g.120737031G= | CA2067553171 | ACADS | c.256G= (p.Glu86=) n.368G= | |
12 | g.120737031G>T | CA386614016 | ACADS | c.256G>T (p.Glu86Ter) n.368G>T | gnomAD v4 |
12 | g.120737032A>C | CA386614019 | ACADS | c.257A>C (p.Glu86Ala) n.369A>C | |
12 | g.120737032A>G | CA386614018 | ACADS | c.257A>G (p.Glu86Gly) n.369A>G | |
12 | g.120737032A>T | CA386614017 | ACADS | c.257A>T (p.Glu86Val) n.369A>T | |
12 | g.120737033G>A | CA482146360 | ACADS | c.258G>A (p.Glu86=) n.370G>A | |
12 | g.120737033G>C | CA386614020 | ACADS | c.258G>C (p.Glu86Asp) n.370G>C | |
12 | g.120737033G>T | CA386614021 | ACADS | c.258G>T (p.Glu86Asp) n.370G>T | |
12 | g.120737034G>A | CA386614022 | ACADS | c.259G>A (p.Glu87Lys) n.371G>A | ClinVar gnomAD v4 |
12 | g.120737034G>C | CA386614023 | ACADS | c.259G>C (p.Glu87Gln) n.371G>C | |
12 | g.120737034G>T | CA386614024 | ACADS | c.259G>T (p.Glu87Ter) n.371G>T | gnomAD v4 |
12 | g.120737035A>C | CA386614025 | ACADS | c.260A>C (p.Glu87Ala) n.372A>C | |
12 | g.120737035A>G | CA386614026 | ACADS | c.260A>G (p.Glu87Gly) n.372A>G | |
12 | g.120737035A>T | CA386614027 | ACADS | c.260A>T (p.Glu87Val) n.372A>T | |
12 | g.120737036G>A | CA482146361 | ACADS | c.261G>A (p.Glu87=) n.373G>A | |
12 | g.120737036G>C | CA386614028 | ACADS | c.261G>C (p.Glu87Asp) n.373G>C | |
12 | g.120737036G>T | CA386614029 | ACADS | c.261G>T (p.Glu87Asp) n.373G>T | |
12 | g.120737037C>A | CA386614030 | ACADS | c.262C>A (p.Leu88Ile) n.374C>A | |
12 | g.120737037C= | CA2067553173 | ACADS | c.262C= (p.Leu88=) n.374C= | |
12 | g.120737037C>G | CA386614031 | ACADS | c.262C>G (p.Leu88Val) n.374C>G | dbSNP gnomAD v4 |
12 | g.120737037C>T | CA386614032 | ACADS | c.262C>T (p.Leu88Phe) n.374C>T | gnomAD v4 |
12 | g.120737038T>A | CA386614035 | ACADS | c.263T>A (p.Leu88His) n.375T>A | |
12 | g.120737038T>C | CA386614034 | ACADS | c.263T>C (p.Leu88Pro) n.375T>C | gnomAD v4 |
12 | g.120737038T>G | CA386614033 | ACADS | c.263T>G (p.Leu88Arg) n.375T>G | ClinVar dbSNP gnomAD v4 |
12 | g.120737038T= | CA2067553175 | ACADS | c.263T= (p.Leu88=) n.375T= | |
12 | g.120737039T>A | CA482146363 | ACADS | c.264T>A (p.Leu88=) n.376T>A | |
12 | g.120737039T>C | CA244521425 | ACADS | c.264T>C (p.Leu88=) n.376T>C | dbSNP |
12 | g.120737039T>G | CA482146362 | ACADS | c.264T>G (p.Leu88=) n.376T>G | gnomAD v4 |
12 | g.120737039T= | CA2067553177 | ACADS | c.264T= (p.Leu88=) n.376T= | |
12 | g.120737040G>A | CA386614036 | ACADS | c.265G>A (p.Gly89Ser) n.377G>A | |
12 | g.120737040G>C | CA386614037 | ACADS | c.265G>C (p.Gly89Arg) n.377G>C | |
12 | g.120737040G>T | CA386614038 | ACADS | c.265G>T (p.Gly89Cys) n.377G>T | |
12 | g.120737041G>A | CA386614039 | ACADS | c.266G>A (p.Gly89Asp) n.378G>A | gnomAD v4 |
12 | g.120737041G>C | CA386614040 | ACADS | c.266G>C (p.Gly89Ala) n.378G>C | |
12 | g.120737041G>T | CA386614041 | ACADS | c.266G>T (p.Gly89Val) n.378G>T | |
12 | g.120737042C>A | CA6830809 | ACADS | c.267C>A (p.Gly89=) n.379C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737042C= | CA2067553179 | ACADS | c.267C= (p.Gly89=) n.379C= | |
12 | g.120737042C>G | CA482146364 | ACADS | c.267C>G (p.Gly89=) n.379C>G | |
12 | g.120737042C>T | CA6830808 | ACADS | c.267C>T (p.Gly89=) n.379C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737043G>A | CA252883 | ACADS | c.268G>A (p.Gly90Ser) n.380G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737043G>C | CA386614042 | ACADS | c.268G>C (p.Gly90Arg) n.380G>C | gnomAD v4 |
12 | g.120737043G= | CA2067553183 | ACADS | c.268G= (p.Gly90=) n.380G= | |
12 | g.120737043G>T | CA386614043 | ACADS | c.268G>T (p.Gly90Cys) n.380G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.120737044del | CA2621366020 | ACADS | c.269del (p.Gly90ValfsTer27) n.381del | gnomAD v4 |
12 | g.120737044G>A | CA386614044 | ACADS | c.269G>A (p.Gly90Asp) n.381G>A | dbSNP gnomAD v4 |
12 | g.120737044G>C | CA386614045 | ACADS | c.269G>C (p.Gly90Ala) n.381G>C | |
12 | g.120737044G= | CA2067553187 | ACADS | c.269G= (p.Gly90=) n.381G= | |
12 | g.120737044G>T | CA386614046 | ACADS | c.269G>T (p.Gly90Val) n.381G>T | |
12 | g.120737045T>A | CA482146366 | ACADS | c.270T>A (p.Gly90=) n.382T>A | |
12 | g.120737045T>C | CA482146367 | ACADS | c.270T>C (p.Gly90=) n.382T>C | dbSNP gnomAD v4 |
12 | g.120737045T>G | CA482146365 | ACADS | c.270T>G (p.Gly90=) n.382T>G | dbSNP |
12 | g.120737045T= | CA2067553189 | ACADS | c.270T= (p.Gly90=) n.382T= | |
12 | g.120737046G>A | CA386614048 | ACADS | c.271G>A (p.Ala91Thr) n.383G>A | gnomAD v4 |
12 | g.120737046G>C | CA386614049 | ACADS | c.271G>C (p.Ala91Pro) n.383G>C | |
12 | g.120737046G>T | CA386614047 | ACADS | c.271G>T (p.Ala91Ser) n.383G>T | gnomAD v4 |
12 | g.120737047C>A | CA386614050 | ACADS | c.272C>A (p.Ala91Asp) n.384C>A | dbSNP |
12 | g.120737047C= | CA2067553191 | ACADS | c.272C= (p.Ala91=) n.384C= | |
12 | g.120737047C>G | CA386614051 | ACADS | c.272C>G (p.Ala91Gly) n.384C>G | gnomAD v4 |
12 | g.120737047C>T | CA386614052 | ACADS | c.272C>T (p.Ala91Val) n.384C>T | gnomAD v4 |
12 | g.120737048T>A | CA482146368 | ACADS | c.273T>A (p.Ala91=) n.385T>A | |
12 | g.120737048T>C | CA482146369 | ACADS | c.273T>C (p.Ala91=) n.385T>C | |
12 | g.120737048T>G | CA482146370 | ACADS | c.273T>G (p.Ala91=) n.385T>G | |
12 | g.120737049G>A | CA386614053 | ACADS | c.274G>A (p.Gly92Ser) n.386G>A | |
12 | g.120737049G>C | CA386614054 | ACADS | c.274G>C (p.Gly92Arg) n.386G>C | |
12 | g.120737049G= | CA2067553194 | ACADS | c.274G= (p.Gly92=) n.386G= | |
12 | g.120737049G>T | CA252880 | ACADS | c.274G>T (p.Gly92Cys) n.386G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737050G>A | CA386614055 | ACADS | c.275G>A (p.Gly92Asp) n.387G>A | |
12 | g.120737050G>C | CA386614056 | ACADS | c.275G>C (p.Gly92Ala) n.387G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737050G= | CA2067553196 | ACADS | c.275G= (p.Gly92=) n.387G= | |
12 | g.120737050G>T | CA386614057 | ACADS | c.275G>T (p.Gly92Val) n.387G>T | |
12 | g.120737051C>A | CA482146373 | ACADS | c.276C>A (p.Gly92=) n.388C>A | |
12 | g.120737051C>G | CA482146371 | ACADS | c.276C>G (p.Gly92=) n.388C>G | |
12 | g.120737051C>T | CA482146372 | ACADS | c.276C>T (p.Gly92=) n.388C>T | |
12 | g.120737052C>A | CA386614058 | ACADS | c.277C>A (p.Leu93Ile) n.389C>A | ClinVar dbSNP gnomAD v4 |
12 | g.120737052C= | CA2067553199 | ACADS | c.277C= (p.Leu93=) n.389C= | |
12 | g.120737052C>G | CA386614059 | ACADS | c.277C>G (p.Leu93Val) n.389C>G | dbSNP gnomAD v2 |
12 | g.120737052C>T | CA386614060 | ACADS | c.277C>T (p.Leu93Phe) n.389C>T | |
12 | g.120737053T>A | CA386614063 | ACADS | c.278T>A (p.Leu93His) n.390T>A | |
12 | g.120737053T>C | CA386614061 | ACADS | c.278T>C (p.Leu93Pro) n.390T>C | |
12 | g.120737053T>G | CA386614062 | ACADS | c.278T>G (p.Leu93Arg) n.390T>G | |
12 | g.120737054C>A | CA482146374 | ACADS | c.279C>A (p.Leu93=) n.391C>A | |
12 | g.120737054C= | CA2067553203 | ACADS | c.279C= (p.Leu93=) n.391C= | |
12 | g.120737054C>G | CA482146375 | ACADS | c.279C>G (p.Leu93=) n.391C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737054C>T | CA6830810 | ACADS | c.279C>T (p.Leu93=) n.391C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737055G>A | CA6830812 | ACADS | c.280G>A (p.Asp94Asn) n.392G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.120737055G>C | CA6830811 | ACADS | c.280G>C (p.Asp94His) n.392G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.120737055G= | CA2067553205 | ACADS | c.280G= (p.Asp94=) n.392G= | |
12 | g.120737055G>T | CA386614064 | ACADS | c.280G>T (p.Asp94Tyr) n.392G>T | gnomAD v4 |
12 | g.120737056A>C | CA386614065 | ACADS | c.281A>C (p.Asp94Ala) n.393A>C | |
12 | g.120737056A>G | CA386614066 | ACADS | c.281A>G (p.Asp94Gly) n.393A>G | |
12 | g.120737056A>T | CA386614067 | ACADS | c.281A>T (p.Asp94Val) n.393A>T | |
12 | g.120737057T>A | CA386614068 | ACADS | c.282T>A (p.Asp94Glu) n.394T>A | |
12 | g.120737057T>C | CA482146376 | ACADS | c.282T>C (p.Asp94=) n.394T>C | |
12 | g.120737057T>G | CA386614069 | ACADS | c.282T>G (p.Asp94Glu) n.394T>G | |
12 | g.120737058T>A | CA386614070 | ACADS | c.283T>A (p.Tyr95Asn) n.395T>A | |
12 | g.120737058T>C | CA386614071 | ACADS | c.283T>C (p.Tyr95His) n.395T>C | |
12 | g.120737058T>G | CA386614072 | ACADS | c.283T>G (p.Tyr95Asp) n.395T>G |