UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| MT | m.5774_14768del | CA2580610836 | |||
| MT | m.5780_14107del | CA2580610932 | |||
| MT | m.5782_13922del | CA250413 | ClinVar | ||
| MT | m.5788_13923del | CA2580618295 | |||
| MT | m.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7731_11256del | CA645373334 | ClinVar | ||
| MT | m.8282_8290del | CA2573104974 | |||
| MT | m.8287_8292delinsCTAGAG | CA2499565566 | |||
| MT | m.8289_8298dup | CA920609096 | dbSNP | ||
| MT | m.8288_8291del | CA2573104983 | |||
| MT | m.8288_8292del | CA920609100 | dbSNP | ||
| MT | m.8290G>A | CA2499565574 | dbSNP | ||
| MT | m.8290G>C | CA2573329212 | |||
| MT | m.8290G= | CA2499565573 | |||
| MT | m.8290G>T | CA2573104985 | |||
| MT | m.8290_13040del | CA645373335 | ClinVar | ||
| MT | m.8291A= | CA2499565575 | |||
| MT | m.8291A>C | CA2573329213 | |||
| MT | m.8291A>G | CA337097832 | dbSNP | ||
| MT | m.8291A>T | CA2573329214 | |||
| MT | m.8292G>A | CA2499565577 | dbSNP | ||
| MT | m.8292G>C | CA2499565578 | dbSNP | ||
| MT | m.8292G= | CA2499565576 | |||
| MT | m.8292G>T | CA2573329215 | |||
| MT | m.8293_8299dup | CA2740101891 | |||
| MT | m.8293C>A | CA2573329220 | |||
| MT | m.8293C= | CA2573329219 | |||
| MT | m.8293C>G | CA2573329218 | |||
| MT | m.8293C>T | CA2573104986 | |||
| MT | m.8294C>A | CA2573329221 | |||
| MT | m.8294C= | CA2573329223 | |||
| MT | m.8294C>G | CA2573329224 | |||
| MT | m.8294C>T | CA2573104987 | |||
| MT | m.8295C>A | CA913178859 | |||
| MT | m.8295C= | CA2573329226 | |||
| MT | m.8295C>G | CA913178857 | |||
| MT | m.8295C>T | CA913178856 | |||
| MT | m.8296A= | CA2499565579 | |||
| MT | m.8296A>C | CA913178861 | dbSNP | ||
| MT | m.8296A>G | CA120557 | ClinVar dbSNP | ||
| MT | m.8296A>T | CA913178860 | |||
| MT | m.8297C>A | CA913178865 | |||
| MT | m.8297C= | CA2573329229 | |||
| MT | m.8297C>G | CA913178864 | |||
| MT | m.8297C>T | CA913178863 | |||
| MT | m.8298T>A | CA913178869 | |||
| MT | m.8298T>C | CA913178868 | ClinVar dbSNP | ||
| MT | m.8298T>G | CA913178867 | |||
| MT | m.8298T= | CA2499565580 | |||
| MT | m.8299G>A | CA913178873 | ClinVar dbSNP | ||
| MT | m.8299G>C | CA913178871 | |||
| MT | m.8299G= | CA2499565581 | |||
| MT | m.8299G>T | CA913178870 | |||
| MT | m.8300T>A | CA913178877 | |||
| MT | m.8300T>C | CA913178876 | ClinVar dbSNP | ||
| MT | m.8300T>G | CA913178874 | |||
| MT | m.8300T= | CA2499565582 | |||
| MT | m.8301A= | CA2499565583 | |||
| MT | m.8301A>C | CA913178880 | |||
| MT | m.8301A>G | CA913178879 | ClinVar dbSNP | ||
| MT | m.8301A>T | CA913178878 | |||
| MT | m.8302A= | CA2499565584 | |||
| MT | m.8302A>C | CA913178884 | |||
| MT | m.8302A>G | CA913178882 | ClinVar dbSNP | ||
| MT | m.8302A>T | CA913178881 | |||
| MT | m.8303A= | CA2573329240 | |||
| MT | m.8303A>C | CA913178889 | |||
| MT | m.8303A>G | CA913178887 | |||
| MT | m.8303A>T | CA913178886 | |||
| MT | m.8304G>A | CA913178892 | |||
| MT | m.8304G>C | CA913178891 | |||
| MT | m.8304G= | CA2573329243 | |||
| MT | m.8304G>T | CA913178890 | |||
| MT | m.8305C>A | CA913178898 | |||
| MT | m.8305C= | CA2573329244 | |||
| MT | m.8305C>G | CA913178897 | |||
| MT | m.8305C>T | CA913178893 | |||
| MT | m.8306T>A | CA913178901 | |||
| MT | m.8306T>C | CA913178900 | ClinVar | ||
| MT | m.8306T>G | CA913178899 | |||
| MT | m.8306T= | CA2573329246 | |||
| MT | m.8307A= | CA2573329248 | |||
| MT | m.8307A>C | CA913178905 | |||
| MT | m.8307A>G | CA913178903 | |||
| MT | m.8307A>T | CA913178902 | |||
| MT | m.8308del | CA2573104988 | |||
| MT | m.8308A= | CA2499565585 | |||
| MT | m.8308A>C | CA913178907 | |||
| MT | m.8308A>G | CA337097834 | ClinVar dbSNP | ||
| MT | m.8308A>T | CA913178906 | |||
| MT | m.8309C>A | CA913178911 | |||
| MT | m.8309C= | CA2499565586 | |||
| MT | m.8309C>G | CA913178910 | |||
| MT | m.8309C>T | CA913178909 | dbSNP | ||
| MT | m.8310T>A | CA913178914 | |||
| MT | m.8310T>C | CA913178913 | dbSNP | ||
| MT | m.8310T>G | CA913178912 | |||
| MT | m.8310T= | CA2499565587 | |||
| MT | m.8311T>A | CA913178916 | ClinVar dbSNP | ||
| MT | m.8311T>C | CA337097836 | ClinVar dbSNP | ||
| MT | m.8311T>G | CA913178917 | |||
| MT | m.8311T= | CA2499565588 | |||
| MT | m.8312A= | CA2573329256 | |||
| MT | m.8312A>C | CA913178923 | |||
| MT | m.8312A>G | CA913178921 | |||
| MT | m.8312A>T | CA913178919 | |||
| MT | m.8313G>A | CA254837 | ClinVar dbSNP | ||
| MT | m.8313G>C | CA913178927 | |||
| MT | m.8313G= | CA2499565589 | |||
| MT | m.8313G>T | CA913178926 | |||
| MT | m.8314C>A | CA913178931 | |||
| MT | m.8314C= | CA2573329259 | |||
| MT | m.8314C>G | CA913178929 | |||
| MT | m.8314C>T | CA913178928 | |||
| MT | m.8315A= | CA2499565590 | |||
| MT | m.8315A>C | CA913178936 | |||
| MT | m.8315A>G | CA913178935 | ClinVar dbSNP | ||
| MT | m.8315A>T | CA913178934 | |||
| MT | m.8316T>A | CA913178939 | |||
| MT | m.8316T>C | CA913178938 | ClinVar | ||
| MT | m.8316T>G | CA913178937 | |||
| MT | m.8316T= | CA2573329264 | |||
| MT | m.8317T>A | CA913178942 | |||
| MT | m.8317T>C | CA913178941 | |||
| MT | m.8317T>G | CA913178940 | |||
| MT | m.8317T= | CA2573329267 | |||
| MT | m.8318A= | CA2573329270 | |||
| MT | m.8318A>C | CA913178946 | |||
| MT | m.8318A>G | CA913178945 | |||
| MT | m.8318A>T | CA913178943 | |||
| MT | m.8319A= | CA2499565591 | |||
| MT | m.8319A>C | CA913178951 | |||
| MT | m.8319A>G | CA913178950 | ClinVar dbSNP | ||
| MT | m.8319A>T | CA913178948 | |||
| MT | m.8320C>A | CA913178954 | |||
| MT | m.8320C= | CA2573329275 | |||
| MT | m.8320C>G | CA913178953 | |||
| MT | m.8320C>T | CA913178952 | |||
| MT | m.8321C>A | CA913178958 | |||
| MT | m.8321C= | CA2573329278 | |||
| MT | m.8321C>G | CA913178957 | |||
| MT | m.8321C>T | CA913178956 | |||
| MT | m.8322T>A | CA913178963 | |||
| MT | m.8322T>C | CA913178960 | dbSNP | ||
| MT | m.8322T>G | CA913178959 | |||
| MT | m.8322T= | CA2499565592 | |||
| MT | m.8325del | CA2740101894 | |||
| MT | m.8323T>A | CA913178966 | |||
| MT | m.8323T>C | CA913178965 | |||
| MT | m.8323T>G | CA913178964 | |||
| MT | m.8323T= | CA2573329283 | |||
| MT | m.8324T>A | CA913178969 | |||
| MT | m.8324T>C | CA913178968 | |||
| MT | m.8324T>G | CA913178967 | |||
| MT | m.8324T= | CA2573329285 | |||
| MT | m.8325T>A | CA913178972 | |||
| MT | m.8325T>C | CA913178971 | |||
| MT | m.8325T>G | CA913178970 | |||
| MT | m.8325T= | CA2573329286 | |||
| MT | m.8326A= | CA2573329289 | |||
| MT | m.8326A>C | CA913178975 | |||
| MT | m.8326A>G | CA913178974 | ClinVar dbSNP | ||
| MT | m.8326A>T | CA913178973 | |||
| MT | m.8327A= | CA2573329290 | |||
| MT | m.8327A>C | CA913178976 | |||
| MT | m.8327A>G | CA913178980 | |||
| MT | m.8327A>T | CA913178977 | |||
| MT | m.8328G>A | CA913178984 | ClinVar dbSNP | ||
| MT | m.8328G>C | CA913178983 | |||
| MT | m.8328G= | CA2573329292 | |||
| MT | m.8328G>T | CA913178982 | |||
| MT | m.8329T>A | CA913178987 | |||
| MT | m.8329T>C | CA913178986 | |||
| MT | m.8329T>G | CA913178985 | |||
| MT | m.8329T= | CA2573329293 | |||
| MT | m.8330T>A | CA913178990 | |||
| MT | m.8330T>C | CA913178989 | |||
| MT | m.8330T>G | CA913178988 | |||
| MT | m.8330T= | CA2573329297 | |||
| MT | m.8331A= | CA2499565593 | |||
| MT | m.8331A>C | CA913178992 | |||
| MT | m.8331A>G | CA913178996 | ClinVar dbSNP | ||
| MT | m.8331A>T | CA913178991 | |||
| MT | m.8332A= | CA2573329301 | |||
| MT | m.8332A>C | CA913178998 | |||
| MT | m.8332A>G | CA913178997 | |||
| MT | m.8332A>T | CA913178999 | |||
| MT | m.8333A= | CA2573329302 | |||
| MT | m.8333A>C | CA913179001 | |||
| MT | m.8333A>G | CA913179003 | |||
| MT | m.8333A>T | CA913179000 | |||
| MT | m.8334G>A | CA913179006 | dbSNP | ||
| MT | m.8334G>C | CA913179005 | |||
| MT | m.8334G= | CA2499565594 | |||
| MT | m.8334G>T | CA913179007 | |||
| MT | m.8335A= | CA2573329304 | |||
| MT | m.8335A>C | CA913179009 | |||
| MT | m.8335A>G | CA913179010 | |||
| MT | m.8335A>T | CA913179008 | |||
| MT | m.8336T>A | CA913179012 | |||
| MT | m.8336T>C | CA913179011 | |||
| MT | m.8336T>G | CA913179013 | |||
| MT | m.8336T= | CA2573329307 | |||
| MT | m.8337T>A | CA913179015 | |||
| MT | m.8337T>C | CA913179017 | ClinVar dbSNP | ||
| MT | m.8337T>G | CA913179014 | |||
| MT | m.8337T= | CA2499565595 | |||
| MT | m.8338A= | CA2499565596 | |||
| MT | m.8338A>C | CA913179020 | |||
| MT | m.8338A>G | CA913179018 | ClinVar dbSNP | ||
| MT | m.8338A>T | CA913179021 | |||
| MT | m.8339A= | CA2573329312 | |||
| MT | m.8339A>C | CA913179023 | |||
| MT | m.8339A>G | CA913179024 | |||
| MT | m.8339A>T | CA913179022 | |||
| MT | m.8340G>A | CA913179026 | |||
| MT | m.8340G>C | CA913179025 | |||
| MT | m.8340G= | CA2499565597 | |||
| MT | m.8340G>T | CA913179029 | |||
| MT | m.8340_8341insT | CA915952047 | ClinVar dbSNP | ||
| MT | m.8341A= | CA2573329316 | |||
| MT | m.8341A>C | CA913179031 | |||
| MT | m.8341A>G | CA913179032 | |||
| MT | m.8341A>T | CA913179030 | |||
| MT | m.8342G>A | CA120556 | ClinVar dbSNP | ||
| MT | m.8342G>C | CA913179036 | |||
| MT | m.8342G= | CA2499565598 | |||
| MT | m.8342G>T | CA913179037 | |||
| MT | m.8343A= | CA2499565599 | |||
| MT | m.8343A>C | CA913179039 | |||
| MT | m.8343A>G | CA913179040 | ClinVar dbSNP | ||
| MT | m.8343A>T | CA913179038 | |||
| MT | m.8344del | CA2573104989 | |||
| MT | m.8344A= | CA2499565600 | |||
| MT | m.8344A>C | CA913179041 | |||
| MT | m.8344A>G | CA254836 | ClinVar dbSNP | ||
| MT | m.8344A>T | CA913179042 | |||
| MT | m.8345C>A | CA913179044 | |||
| MT | m.8345C= | CA2499565601 | |||
| MT | m.8345C>G | CA913179045 | |||
| MT | m.8345C>T | CA913179043 | ClinVar dbSNP | ||
| MT | m.8346del | CA2573104990 | |||
| MT | m.8346C>A | CA913179047 | ClinVar dbSNP | ||
| MT | m.8346C= | CA2499565602 | |||
| MT | m.8346C>G | CA913179046 | |||
| MT | m.8346C>T | CA913179048 | |||
| MT | m.8347A= | CA2499565603 | |||
| MT | m.8347A>C | CA913179050 | |||
| MT | m.8347A>G | CA913179051 | ClinVar dbSNP | ||
| MT | m.8347A>T | CA913179049 | dbSNP | ||
| MT | m.8348A= | CA2499565604 | |||
| MT | m.8348A>C | CA913179053 | |||
| MT | m.8348A>G | CA913179052 | ClinVar dbSNP | ||
| MT | m.8348A>T | CA913179054 | |||
| MT | m.8349C>A | CA913179056 | |||
| MT | m.8349C= | CA2499565605 | |||
| MT | m.8349C>G | CA913179057 | |||
| MT | m.8349C>T | CA913179055 | ClinVar dbSNP | ||
| MT | m.8350del | CA2573104991 | |||
| MT | m.8350A= | CA2499565606 | |||
| MT | m.8350A>C | CA913179059 | |||
| MT | m.8350A>G | CA913179058 | ClinVar dbSNP | ||
| MT | m.8350A>T | CA913179060 | |||
| MT | m.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8351C>A | CA913179065 | |||
| MT | m.8351C= | CA2499565607 | |||
| MT | m.8351C>G | CA913179061 | |||
| MT | m.8351C>T | CA913179066 | dbSNP | ||
| MT | m.8352C>A | CA913179067 | |||
| MT | m.8352C= | CA2573329351 | |||
| MT | m.8352C>G | CA913179068 | |||
| MT | m.8352C>T | CA913179069 | |||
| MT | m.8353T>A | CA913179072 | |||
| MT | m.8353T>C | CA913179071 | dbSNP | ||
| MT | m.8353T>G | CA913179070 | |||
| MT | m.8353T= | CA2499565608 | |||
| MT | m.8354C>A | CA913179074 | |||
| MT | m.8354C= | CA2573329353 | |||
| MT | m.8354C>G | CA913179076 | |||
| MT | m.8354C>T | CA913179075 | |||
| MT | m.8355T>A | CA913179078 | |||
| MT | m.8355T>C | CA337097842 | dbSNP | ||
| MT | m.8355T>G | CA913179077 | |||
| MT | m.8355T= | CA2499565609 | |||
| MT | m.8356T>A | CA913179079 | |||
| MT | m.8356T>C | CA120554 | ClinVar dbSNP | ||
| MT | m.8356T>G | CA913179080 | |||
| MT | m.8356T= | CA2499565610 | |||
| MT | m.8357T>A | CA913179084 | |||
| MT | m.8357T>C | CA913179083 | |||
| MT | m.8357T>G | CA913179082 | |||
| MT | m.8357T= | CA2573329359 | |||
| MT | m.8358A= | CA2499565611 | |||
| MT | m.8358A>C | CA913179085 | |||
| MT | m.8358A>G | CA913179087 | ClinVar dbSNP | ||
| MT | m.8358A>T | CA913179086 | |||
| MT | m.8359C>A | CA913179090 | |||
| MT | m.8359C= | CA2573329361 | |||
| MT | m.8359C>G | CA913179089 | |||
| MT | m.8359C>T | CA913179088 | dbSNP | ||
| MT | m.8360A= | CA2499565612 | |||
| MT | m.8360A>C | CA913179091 | |||
| MT | m.8360A>G | CA913179093 | ClinVar dbSNP | ||
| MT | m.8360A>T | CA913179092 | |||
| MT | m.8361G>A | CA340925 | ClinVar dbSNP | ||
| MT | m.8361G>C | CA913179098 | |||
| MT | m.8361G= | CA2499565613 | |||
| MT | m.8361G>T | CA913179096 | |||
| MT | m.8362T>A | CA913179099 | |||
| MT | m.8362T>C | CA913179101 | |||
| MT | m.8362T>G | CA913179100 | ClinVar dbSNP | ||
| MT | m.8362T= | CA2499565614 | |||
| MT | m.8363G>A | CA120555 | ClinVar dbSNP | ||
| MT | m.8363G>C | CA913179103 | |||
| MT | m.8363G= | CA2499565615 | |||
| MT | m.8363G>T | CA913179102 | |||
| MT | m.8364A= | CA2499565616 | |||
| MT | m.8364A>C | CA913179105 | |||
| MT | m.8364A>G | CA913179107 | |||
| MT | m.8364A>T | CA913179106 | ClinVar dbSNP | ||
| MT | m.8365A= | CA2573329368 | |||
| MT | m.8365A>C | CA2573329369 | |||
| MT | m.8365A>G | CA2573104992 | |||
| MT | m.8365A>T | CA2573329371 | |||
| MT | m.8365_8366insT | CA2573104993 | MT-ATP8 | c.1-1_1insT (n.1-1_1insT) | |
| MT | m.8366A= | CA2573329373 | MT-ATP8 | c.1A= (p.Met1=) | |
| MT | m.8366A>C | CA414795789 | MT-ATP8 | c.1A>C (p.Met1Leu) | |
| MT | m.8366A>G | CA414795790 | MT-ATP8 | c.1A>G (p.Met1Val) | |
| MT | m.8366A>T | CA414795792 | MT-ATP8 | c.1A>T (p.Met1Leu) | |
| MT | m.8367T>A | CA414795794 | MT-ATP8 | c.2T>A (p.Met1Lys) | |
| MT | m.8367T>C | CA414795796 | MT-ATP8 | c.2T>C (p.Met1Thr) | |
| MT | m.8367T>G | CA414795797 | MT-ATP8 | c.2T>G (p.Met1Arg) | |
| MT | m.8367T= | CA2573329375 | MT-ATP8 | c.2T= (p.Met1=) | |
| MT | m.8368G>A | CA414795800 | MT-ATP8 | c.3G>A (p.Met1Ile) | |
| MT | m.8368G>C | CA414795804 | MT-ATP8 | c.3G>C (p.Met1Ile) | |
| MT | m.8368G= | CA2573329377 | MT-ATP8 | c.3G= (p.Met1=) | |
| MT | m.8368G>T | CA414795802 | MT-ATP8 | c.3G>T (p.Met1Ile) | |
| MT | m.8369C>A | CA414795807 | MT-ATP8 | c.4C>A (p.Pro2Thr) | |
| MT | m.8369C= | CA2499565617 | MT-ATP8 | c.4C= (p.Pro2=) | |
| MT | m.8369C>G | CA414795808 | MT-ATP8 | c.4C>G (p.Pro2Ala) | |
| MT | m.8369C>T | CA414795810 | MT-ATP8 | c.4C>T (p.Pro2Ser) | ClinVar dbSNP |
| MT | m.8372dup | CA2573104994 | MT-ATP8 | c.7dup (p.Gln3ProfsTer?) | |
| MT | m.8370C>A | CA414795812 | MT-ATP8 | c.5C>A (p.Pro2His) | |
| MT | m.8370C= | CA2573329381 | MT-ATP8 | c.5C= (p.Pro2=) | |
| MT | m.8370C>G | CA414795814 | MT-ATP8 | c.5C>G (p.Pro2Arg) | |
| MT | m.8370C>T | CA414795815 | MT-ATP8 | c.5C>T (p.Pro2Leu) | |
| MT | m.8371C>A | CA913179114 | MT-ATP8 | c.6C>A (p.Pro2=) | |
| MT | m.8371C= | CA2573329382 | MT-ATP8 | c.6C= (p.Pro2=) | |
| MT | m.8371C>G | CA913179116 | MT-ATP8 | c.6C>G (p.Pro2=) | |
| MT | m.8371C>T | CA913179115 | MT-ATP8 | c.6C>T (p.Pro2=) | dbSNP |
| MT | m.8372C>A | CA414795818 | MT-ATP8 | c.7C>A (p.Gln3Lys) | |
| MT | m.8372C= | CA2573329383 | MT-ATP8 | c.7C= (p.Gln3=) | |
| MT | m.8372C>G | CA414795820 | MT-ATP8 | c.7C>G (p.Gln3Glu) | |
| MT | m.8372C>T | CA414795821 | MT-ATP8 | c.7C>T (p.Gln3Ter) | |
| MT | m.8373A= | CA2499565618 | MT-ATP8 | c.8A= (p.Gln3=) | |
| MT | m.8373A>C | CA414795825 | MT-ATP8 | c.8A>C (p.Gln3Pro) | |
| MT | m.8373A>G | CA414795827 | MT-ATP8 | c.8A>G (p.Gln3Arg) | ClinVar dbSNP |
| MT | m.8373A>T | CA414795823 | MT-ATP8 | c.8A>T (p.Gln3Leu) | ClinVar dbSNP |
| MT | m.8374A= | CA2499565619 | MT-ATP8 | c.9A= (p.Gln3=) | |
| MT | m.8374A>C | CA414795830 | MT-ATP8 | c.9A>C (p.Gln3His) | |
| MT | m.8374A>G | CA913179121 | MT-ATP8 | c.9A>G (p.Gln3=) | dbSNP |
| MT | m.8374A>T | CA414795831 | MT-ATP8 | c.9A>T (p.Gln3His) | |
| MT | m.8375C>A | CA414795834 | MT-ATP8 | c.10C>A (p.Leu4Ile) | |
| MT | m.8375C= | CA2573329390 | MT-ATP8 | c.10C= (p.Leu4=) | |
| MT | m.8375C>G | CA414795835 | MT-ATP8 | c.10C>G (p.Leu4Val) | |
| MT | m.8375C>T | CA913179123 | MT-ATP8 | c.10C>T (p.Leu4=) | |
| MT | m.8376T>A | CA414795837 | MT-ATP8 | c.11T>A (p.Leu4Gln) | |
| MT | m.8376T>C | CA414795838 | MT-ATP8 | c.11T>C (p.Leu4Pro) | dbSNP |
| MT | m.8376T>G | CA414795839 | MT-ATP8 | c.11T>G (p.Leu4Arg) | |
| MT | m.8376T= | CA2499565620 | MT-ATP8 | c.11T= (p.Leu4=) | |
| MT | m.8377A= | CA2573329394 | MT-ATP8 | c.12A= (p.Leu4=) | |
| MT | m.8377A>C | CA913179126 | MT-ATP8 | c.12A>C (p.Leu4=) | |
| MT | m.8377A>G | CA913179124 | MT-ATP8 | c.12A>G (p.Leu4=) | |
| MT | m.8377A>T | CA913179125 | MT-ATP8 | c.12A>T (p.Leu4=) | |
| MT | m.8378A= | CA2573329398 | MT-ATP8 | c.13A= (p.Asn5=) | |
| MT | m.8378A>C | CA414795841 | MT-ATP8 | c.13A>C (p.Asn5His) | |
| MT | m.8378A>G | CA414795843 | MT-ATP8 | c.13A>G (p.Asn5Asp) | |
| MT | m.8378A>T | CA414795845 | MT-ATP8 | c.13A>T (p.Asn5Tyr) | |
| MT | m.8379A= | CA2499565621 | MT-ATP8 | c.14A= (p.Asn5=) | |
| MT | m.8379A>C | CA414795846 | MT-ATP8 | c.14A>C (p.Asn5Thr) | |
| MT | m.8379A>G | CA414795848 | MT-ATP8 | c.14A>G (p.Asn5Ser) | ClinVar dbSNP |
| MT | m.8379A>T | CA414795850 | MT-ATP8 | c.14A>T (p.Asn5Ile) | |
| MT | m.8380T>A | CA414795852 | MT-ATP8 | c.15T>A (p.Asn5Lys) | |
| MT | m.8380T>C | CA913179130 | MT-ATP8 | c.15T>C (p.Asn5=) | |
| MT | m.8380T>G | CA414795853 | MT-ATP8 | c.15T>G (p.Asn5Lys) | |
| MT | m.8380T= | CA2573329404 | MT-ATP8 | c.15T= (p.Asn5=) | |
| MT | m.8381A= | CA2499565622 | MT-ATP8 | c.16A= (p.Thr6=) | |
| MT | m.8381A>C | CA414795855 | MT-ATP8 | c.16A>C (p.Thr6Pro) | |
| MT | m.8381A>G | CA414795857 | MT-ATP8 | c.16A>G (p.Thr6Ala) | ClinVar dbSNP |
| MT | m.8381A>T | CA414795858 | MT-ATP8 | c.16A>T (p.Thr6Ser) | ClinVar dbSNP |
| MT | m.8382C>A | CA414795861 | MT-ATP8 | c.17C>A (p.Thr6Asn) | |
| MT | m.8382C= | CA2499565623 | MT-ATP8 | c.17C= (p.Thr6=) | |
| MT | m.8382C>G | CA414795863 | MT-ATP8 | c.17C>G (p.Thr6Ser) | |
| MT | m.8382C>T | CA414795864 | MT-ATP8 | c.17C>T (p.Thr6Ile) | ClinVar dbSNP |
| MT | m.8383T>A | CA913179133 | MT-ATP8 | c.18T>A (p.Thr6=) | |
| MT | m.8383T>C | CA913179132 | MT-ATP8 | c.18T>C (p.Thr6=) | dbSNP |
| MT | m.8383T>G | CA913179134 | MT-ATP8 | c.18T>G (p.Thr6=) | |
| MT | m.8383T= | CA2499565624 | MT-ATP8 | c.18T= (p.Thr6=) | |
| MT | m.8384A= | CA2499565625 | MT-ATP8 | c.19A= (p.Thr7=) | |
| MT | m.8384A>C | CA414795866 | MT-ATP8 | c.19A>C (p.Thr7Pro) | |
| MT | m.8384A>G | CA414795868 | MT-ATP8 | c.19A>G (p.Thr7Ala) | dbSNP |
| MT | m.8384A>T | CA414795870 | MT-ATP8 | c.19A>T (p.Thr7Ser) | |
| MT | m.8387_8398del | CA2573104995 | MT-ATP8 | c.22_33del (p.Val8_Thr11del) | |
| MT | m.8385C>A | CA414795871 | MT-ATP8 | c.20C>A (p.Thr7Asn) | |
| MT | m.8385C= | CA2573329416 | MT-ATP8 | c.20C= (p.Thr7=) | |
| MT | m.8385C>G | CA414795874 | MT-ATP8 | c.20C>G (p.Thr7Ser) | |
| MT | m.8385C>T | CA414795875 | MT-ATP8 | c.20C>T (p.Thr7Ile) | dbSNP |
| MT | m.8386C>A | CA913179138 | MT-ATP8 | c.21C>A (p.Thr7=) | |
| MT | m.8386C= | CA2499565626 | MT-ATP8 | c.21C= (p.Thr7=) | |
| MT | m.8386C>G | CA913179136 | MT-ATP8 | c.21C>G (p.Thr7=) | |
| MT | m.8386C>T | CA913179135 | MT-ATP8 | c.21C>T (p.Thr7=) | dbSNP |
| MT | m.8387G>A | CA414795877 | MT-ATP8 | c.22G>A (p.Val8Ile) | ClinVar dbSNP |
| MT | m.8387G>C | CA414795881 | MT-ATP8 | c.22G>C (p.Val8Leu) | |
| MT | m.8387G= | CA2499565627 | MT-ATP8 | c.22G= (p.Val8=) | |
| MT | m.8387G>T | CA414795879 | MT-ATP8 | c.22G>T (p.Val8Leu) | dbSNP |
| MT | m.8388T>A | CA414795883 | MT-ATP8 | c.23T>A (p.Val8Glu) | |
| MT | m.8388T>C | CA337097843 | MT-ATP8 | c.23T>C (p.Val8Ala) | ClinVar dbSNP |
| MT | m.8388T>G | CA414795886 | MT-ATP8 | c.23T>G (p.Val8Gly) | |
| MT | m.8388T= | CA2499565628 | MT-ATP8 | c.23T= (p.Val8=) | |
| MT | m.8389A= | CA2499565629 | MT-ATP8 | c.24A= (p.Val8=) | |
| MT | m.8389A>C | CA337097845 | MT-ATP8 | c.24A>C (p.Val8=) | |
| MT | m.8389A>G | CA913179142 | MT-ATP8 | c.24A>G (p.Val8=) | dbSNP |
| MT | m.8389A>T | CA337097846 | MT-ATP8 | c.24A>T (p.Val8=) | |
| MT | m.8390T>A | CA414795891 | MT-ATP8 | c.25T>A (p.Trp9Arg) | |
| MT | m.8390T>C | CA414795893 | MT-ATP8 | c.25T>C (p.Trp9Arg) | dbSNP |
| MT | m.8390T>G | CA414795894 | MT-ATP8 | c.25T>G (p.Trp9Gly) | |
| MT | m.8390T= | CA2499565630 | MT-ATP8 | c.25T= (p.Trp9=) |