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.8290_13040del | CA645373335 | ClinVar | ||
| MT | m.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8387_8398del | CA2573104995 | MT-ATP8 | c.22_33del (p.Val8_Thr11del) | |
| 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=) | |
| MT | m.8391G>A | CA414795897 | MT-ATP8 | c.26G>A (p.Trp9Ter) | |
| MT | m.8391G>C | CA414795898 | MT-ATP8 | c.26G>C (p.Trp9Ser) | |
| MT | m.8391G= | CA2573329426 | MT-ATP8 | c.26G= (p.Trp9=) | |
| MT | m.8391G>T | CA414795900 | MT-ATP8 | c.26G>T (p.Trp9Leu) | |
| MT | m.8392G>A | CA414795906 | MT-ATP8 | c.27G>A (p.Trp9Ter) | dbSNP |
| MT | m.8392G>C | CA414795904 | MT-ATP8 | c.27G>C (p.Trp9Cys) | |
| MT | m.8392G= | CA2499565631 | MT-ATP8 | c.27G= (p.Trp9=) | |
| MT | m.8392G>T | CA414795903 | MT-ATP8 | c.27G>T (p.Trp9Cys) | |
| MT | m.8393C>A | CA414795909 | MT-ATP8 | c.28C>A (p.Pro10Thr) | |
| MT | m.8393C= | CA2499565632 | MT-ATP8 | c.28C= (p.Pro10=) | |
| MT | m.8393C>G | CA414795910 | MT-ATP8 | c.28C>G (p.Pro10Ala) | |
| MT | m.8393C>T | CA120592 | MT-ATP8 | c.28C>T (p.Pro10Ser) | ClinVar dbSNP |
| MT | m.8394C>A | CA414795914 | MT-ATP8 | c.29C>A (p.Pro10His) | |
| MT | m.8394C= | CA2499565633 | MT-ATP8 | c.29C= (p.Pro10=) | |
| MT | m.8394C>G | CA414795915 | MT-ATP8 | c.29C>G (p.Pro10Arg) | |
| MT | m.8394C>T | CA414795917 | MT-ATP8 | c.29C>T (p.Pro10Leu) | ClinVar dbSNP |
| MT | m.8395C>A | CA913179148 | MT-ATP8 | c.30C>A (p.Pro10=) | |
| MT | m.8395C= | CA2499565634 | MT-ATP8 | c.30C= (p.Pro10=) | |
| MT | m.8395C>G | CA913179150 | MT-ATP8 | c.30C>G (p.Pro10=) | |
| MT | m.8395C>T | CA913179147 | MT-ATP8 | c.30C>T (p.Pro10=) | dbSNP |
| MT | m.8396A= | CA2499565635 | MT-ATP8 | c.31A= (p.Thr11=) | |
| MT | m.8396A>C | CA414795920 | MT-ATP8 | c.31A>C (p.Thr11Pro) | |
| MT | m.8396A>G | CA414795921 | MT-ATP8 | c.31A>G (p.Thr11Ala) | ClinVar dbSNP |
| MT | m.8396A>T | CA414795924 | MT-ATP8 | c.31A>T (p.Thr11Ser) | |
| MT | m.8397C>A | CA414795925 | MT-ATP8 | c.32C>A (p.Thr11Asn) | |
| MT | m.8397C= | CA2499565636 | MT-ATP8 | c.32C= (p.Thr11=) | |
| MT | m.8397C>G | CA414795927 | MT-ATP8 | c.32C>G (p.Thr11Ser) | ClinVar dbSNP |
| MT | m.8397C>T | CA414795929 | MT-ATP8 | c.32C>T (p.Thr11Ile) | |
| MT | m.8398del | CA2740098129 | MT-ATP8 | c.33del (p.Ile12Ter) | |
| MT | m.8398C>A | CA913179156 | MT-ATP8 | c.33C>A (p.Thr11=) | |
| MT | m.8398C= | CA2499565637 | MT-ATP8 | c.33C= (p.Thr11=) | |
| MT | m.8398C>G | CA913179158 | MT-ATP8 | c.33C>G (p.Thr11=) | |
| MT | m.8398C>T | CA913179157 | MT-ATP8 | c.33C>T (p.Thr11=) | dbSNP |
| MT | m.8399A= | CA2573329441 | MT-ATP8 | c.34A= (p.Ile12=) | |
| MT | m.8399A>C | CA414795936 | MT-ATP8 | c.34A>C (p.Ile12Leu) | |
| MT | m.8399A>G | CA414795934 | MT-ATP8 | c.34A>G (p.Ile12Val) | |
| MT | m.8399A>T | CA414795931 | MT-ATP8 | c.34A>T (p.Ile12Leu) | |
| MT | m.8400T>A | CA414795940 | MT-ATP8 | c.35T>A (p.Ile12Lys) | |
| MT | m.8400T>C | CA414795938 | MT-ATP8 | c.35T>C (p.Ile12Thr) | ClinVar dbSNP |
| MT | m.8400T>G | CA414795941 | MT-ATP8 | c.35T>G (p.Ile12Arg) | |
| MT | m.8400T= | CA2499565638 | MT-ATP8 | c.35T= (p.Ile12=) | |
| MT | m.8401A= | CA2573329443 | MT-ATP8 | c.36A= (p.Ile12=) | |
| MT | m.8401A>C | CA913179162 | MT-ATP8 | c.36A>C (p.Ile12=) | |
| MT | m.8401A>G | CA414795944 | MT-ATP8 | c.36A>G (p.Ile12Met) | |
| MT | m.8401A>T | CA913179161 | MT-ATP8 | c.36A>T (p.Ile12=) | |
| MT | m.8402A= | CA2573329449 | MT-ATP8 | c.37A= (p.Ile13=) | |
| MT | m.8402A>C | CA414795949 | MT-ATP8 | c.37A>C (p.Ile13Leu) | |
| MT | m.8402A>G | CA414795946 | MT-ATP8 | c.37A>G (p.Ile13Val) | |
| MT | m.8402A>T | CA414795951 | MT-ATP8 | c.37A>T (p.Ile13Phe) | |
| MT | m.8403T>A | CA414795952 | MT-ATP8 | c.38T>A (p.Ile13Asn) | |
| MT | m.8403T>C | CA414795954 | MT-ATP8 | c.38T>C (p.Ile13Thr) | ClinVar dbSNP |
| MT | m.8403T>G | CA414795956 | MT-ATP8 | c.38T>G (p.Ile13Ser) | |
| MT | m.8403T= | CA2499565639 | MT-ATP8 | c.38T= (p.Ile13=) | |
| MT | m.8404T>A | CA913179163 | MT-ATP8 | c.39T>A (p.Ile13=) | |
| MT | m.8404T>C | CA337097849 | MT-ATP8 | c.39T>C (p.Ile13=) | dbSNP |
| MT | m.8404T>G | CA414795958 | MT-ATP8 | c.39T>G (p.Ile13Met) | |
| MT | m.8404T= | CA2499565640 | MT-ATP8 | c.39T= (p.Ile13=) | |
| MT | m.8405A= | CA2499565641 | MT-ATP8 | c.40A= (p.Thr14=) | |
| MT | m.8405A>C | CA414795961 | MT-ATP8 | c.40A>C (p.Thr14Pro) | |
| MT | m.8405A>G | CA414795962 | MT-ATP8 | c.40A>G (p.Thr14Ala) | dbSNP |
| MT | m.8405A>T | CA414795964 | MT-ATP8 | c.40A>T (p.Thr14Ser) | |
| MT | m.8406C>A | CA414795966 | MT-ATP8 | c.41C>A (p.Thr14Asn) | |
| MT | m.8406C= | CA2499565642 | MT-ATP8 | c.41C= (p.Thr14=) | |
| MT | m.8406C>G | CA414795968 | MT-ATP8 | c.41C>G (p.Thr14Ser) | |
| MT | m.8406C>T | CA414795970 | MT-ATP8 | c.41C>T (p.Thr14Ile) | ClinVar dbSNP |
| MT | m.8410dup | CA2573104996 | MT-ATP8 | c.45dup (p.Ile16HisfsTer?) | |
| MT | m.8407C>A | CA337097850 | MT-ATP8 | c.42C>A (p.Thr14=) | dbSNP |
| MT | m.8407C= | CA2499565643 | MT-ATP8 | c.42C= (p.Thr14=) | |
| MT | m.8407C>G | CA913179165 | MT-ATP8 | c.42C>G (p.Thr14=) | |
| MT | m.8407C>T | CA913179166 | MT-ATP8 | c.42C>T (p.Thr14=) | |
| MT | m.8408C>A | CA414795973 | MT-ATP8 | c.43C>A (p.Pro15Thr) | |
| MT | m.8408C= | CA2499565644 | MT-ATP8 | c.43C= (p.Pro15=) | |
| MT | m.8408C>G | CA414795977 | MT-ATP8 | c.43C>G (p.Pro15Ala) | |
| MT | m.8408C>T | CA414795975 | MT-ATP8 | c.43C>T (p.Pro15Ser) | ClinVar dbSNP |
| MT | m.8409C>A | CA414795979 | MT-ATP8 | c.44C>A (p.Pro15His) | |
| MT | m.8409C= | CA2499565645 | MT-ATP8 | c.44C= (p.Pro15=) | |
| MT | m.8409C>G | CA414795981 | MT-ATP8 | c.44C>G (p.Pro15Arg) | |
| MT | m.8409C>T | CA414795983 | MT-ATP8 | c.44C>T (p.Pro15Leu) | dbSNP |
| MT | m.8410C>A | CA337097851 | MT-ATP8 | c.45C>A (p.Pro15=) | |
| MT | m.8410C= | CA2499565646 | MT-ATP8 | c.45C= (p.Pro15=) | |
| MT | m.8410C>G | CA337097852 | MT-ATP8 | c.45C>G (p.Pro15=) | |
| MT | m.8410C>T | CA10581408 | MT-ATP8 | c.45C>T (p.Pro15=) | ClinVar dbSNP |
| MT | m.8411A= | CA2499565647 | MT-ATP8 | c.46A= (p.Ile16=) | |
| MT | m.8411A>C | CA337097853 | MT-ATP8 | c.46A>C (p.Ile16Leu) | ClinVar dbSNP |
| MT | m.8411A>G | CA414795989 | MT-ATP8 | c.46A>G (p.Ile16Val) | ClinVar dbSNP |
| MT | m.8411A>T | CA414795990 | MT-ATP8 | c.46A>T (p.Ile16Leu) | |
| MT | m.8412T>A | CA414795996 | MT-ATP8 | c.47T>A (p.Ile16Lys) | |
| MT | m.8412T>C | CA414795995 | MT-ATP8 | c.47T>C (p.Ile16Thr) | ClinVar dbSNP |
| MT | m.8412T>G | CA414795993 | MT-ATP8 | c.47T>G (p.Ile16Arg) | |
| MT | m.8412T= | CA2499565648 | MT-ATP8 | c.47T= (p.Ile16=) | |
| MT | m.8413A= | CA2499565649 | MT-ATP8 | c.48A= (p.Ile16=) | |
| MT | m.8413A>C | CA913179174 | MT-ATP8 | c.48A>C (p.Ile16=) | |
| MT | m.8413A>G | CA414795998 | MT-ATP8 | c.48A>G (p.Ile16Met) | dbSNP |
| MT | m.8413A>T | CA913179175 | MT-ATP8 | c.48A>T (p.Ile16=) | |
| MT | m.8414C>A | CA414796000 | MT-ATP8 | c.49C>A (p.Leu17Ile) | |
| MT | m.8414C= | CA2499565650 | MT-ATP8 | c.49C= (p.Leu17=) | |
| MT | m.8414C>G | CA414796002 | MT-ATP8 | c.49C>G (p.Leu17Val) | |
| MT | m.8414C>T | CA337097854 | MT-ATP8 | c.49C>T (p.Leu17Phe) | ClinVar dbSNP |
| MT | m.8415T>A | CA414796005 | MT-ATP8 | c.50T>A (p.Leu17His) | |
| MT | m.8415T>C | CA414796007 | MT-ATP8 | c.50T>C (p.Leu17Pro) | ClinVar dbSNP |
| MT | m.8415T>G | CA414796009 | MT-ATP8 | c.50T>G (p.Leu17Arg) | |
| MT | m.8415T= | CA2499565651 | MT-ATP8 | c.50T= (p.Leu17=) | |
| MT | m.8416C>A | CA913179184 | MT-ATP8 | c.51C>A (p.Leu17=) | |
| MT | m.8416C= | CA2573329478 | MT-ATP8 | c.51C= (p.Leu17=) | |
| MT | m.8416C>G | CA913179179 | MT-ATP8 | c.51C>G (p.Leu17=) | |
| MT | m.8416C>T | CA913179183 | MT-ATP8 | c.51C>T (p.Leu17=) | |
| MT | m.8417C>A | CA414796011 | MT-ATP8 | c.52C>A (p.Leu18Ile) | |
| MT | m.8417C= | CA2499565652 | MT-ATP8 | c.52C= (p.Leu18=) | |
| MT | m.8417C>G | CA414796012 | MT-ATP8 | c.52C>G (p.Leu18Val) | |
| MT | m.8417C>T | CA337097855 | MT-ATP8 | c.52C>T (p.Leu18Phe) | ClinVar dbSNP |
| MT | m.8417_8418del | CA2573104998 | MT-ATP8 | c.52_53del (p.Leu18TyrfsTer30) | |
| MT | m.8418T>A | CA414796018 | MT-ATP8 | c.53T>A (p.Leu18His) | |
| MT | m.8418T>C | CA16040650 | MT-ATP8 | c.53T>C (p.Leu18Pro) | ClinVar dbSNP |
| MT | m.8418T>G | CA414796016 | MT-ATP8 | c.53T>G (p.Leu18Arg) | |
| MT | m.8418T= | CA2499565653 | MT-ATP8 | c.53T= (p.Leu18=) | |
| MT | m.8419T>A | CA913179188 | MT-ATP8 | c.54T>A (p.Leu18=) | |
| MT | m.8419T>C | CA913179187 | MT-ATP8 | c.54T>C (p.Leu18=) | dbSNP |
| MT | m.8419T>G | CA913179186 | MT-ATP8 | c.54T>G (p.Leu18=) | |
| MT | m.8419T= | CA2499565654 | MT-ATP8 | c.54T= (p.Leu18=) | |
| MT | m.8420_8421insATA | CA913190824 | MT-ATP8 | c.55_56insATA (p.Leu18_Thr19insAsn) | ClinVar dbSNP |
| MT | m.8420A= | CA2499565655 | MT-ATP8 | c.55A= (p.Thr19=) | |
| MT | m.8420A>C | CA414796021 | MT-ATP8 | c.55A>C (p.Thr19Pro) | |
| MT | m.8420A>G | CA337097857 | MT-ATP8 | c.55A>G (p.Thr19Ala) | dbSNP |
| MT | m.8420A>T | CA414796023 | MT-ATP8 | c.55A>T (p.Thr19Ser) | |
| MT | m.8421C>A | CA414796025 | MT-ATP8 | c.56C>A (p.Thr19Lys) | |
| MT | m.8421C= | CA2573329492 | MT-ATP8 | c.56C= (p.Thr19=) | |
| MT | m.8421C>G | CA414796027 | MT-ATP8 | c.56C>G (p.Thr19Arg) | |
| MT | m.8421C>T | CA414796028 | MT-ATP8 | c.56C>T (p.Thr19Ile) | |
| MT | m.8422A= | CA2499565656 | MT-ATP8 | c.57A= (p.Thr19=) | |
| MT | m.8422A>C | CA913179191 | MT-ATP8 | c.57A>C (p.Thr19=) | |
| MT | m.8422A>G | CA913179190 | MT-ATP8 | c.57A>G (p.Thr19=) | dbSNP |
| MT | m.8422A>T | CA913179192 | MT-ATP8 | c.57A>T (p.Thr19=) | |
| MT | m.8423C>A | CA414796030 | MT-ATP8 | c.58C>A (p.Leu20Ile) | |
| MT | m.8423C= | CA2499565657 | MT-ATP8 | c.58C= (p.Leu20=) | |
| MT | m.8423C>G | CA414796032 | MT-ATP8 | c.58C>G (p.Leu20Val) | dbSNP |
| MT | m.8423C>T | CA913179194 | MT-ATP8 | c.58C>T (p.Leu20=) | |
| MT | m.8424T>A | CA414796034 | MT-ATP8 | c.59T>A (p.Leu20Gln) | |
| MT | m.8424T>C | CA414796036 | MT-ATP8 | c.59T>C (p.Leu20Pro) | |
| MT | m.8424T>G | CA414796037 | MT-ATP8 | c.59T>G (p.Leu20Arg) | |
| MT | m.8424T= | CA2573329496 | MT-ATP8 | c.59T= (p.Leu20=) | |
| MT | m.8425A= | CA2573329497 | MT-ATP8 | c.60A= (p.Leu20=) | |
| MT | m.8425A>C | CA913179197 | MT-ATP8 | c.60A>C (p.Leu20=) | |
| MT | m.8425A>G | CA913179195 | MT-ATP8 | c.60A>G (p.Leu20=) | dbSNP |
| MT | m.8425A>T | CA913179196 | MT-ATP8 | c.60A>T (p.Leu20=) | |
| MT | m.8426T>A | CA414796043 | MT-ATP8 | c.61T>A (p.Phe21Ile) | |
| MT | m.8426T>C | CA414796042 | MT-ATP8 | c.61T>C (p.Phe21Leu) | ClinVar dbSNP |
| MT | m.8426T>G | CA414796040 | MT-ATP8 | c.61T>G (p.Phe21Val) | |
| MT | m.8426T= | CA2499565658 | MT-ATP8 | c.61T= (p.Phe21=) | |
| MT | m.8427T>A | CA414796046 | MT-ATP8 | c.62T>A (p.Phe21Tyr) | |
| MT | m.8427T>C | CA414796048 | MT-ATP8 | c.62T>C (p.Phe21Ser) | |
| MT | m.8427T>G | CA414796047 | MT-ATP8 | c.62T>G (p.Phe21Cys) | |
| MT | m.8427T= | CA2512933610 | MT-ATP8 | c.62T= (p.Phe21=) | |
| MT | m.8428C>A | CA414796053 | MT-ATP8 | c.63C>A (p.Phe21Leu) | dbSNP |
| MT | m.8428C= | CA2499565659 | MT-ATP8 | c.63C= (p.Phe21=) | |
| MT | m.8428C>G | CA414796055 | MT-ATP8 | c.63C>G (p.Phe21Leu) | |
| MT | m.8428C>T | CA337097859 | MT-ATP8 | c.63C>T (p.Phe21=) | dbSNP |
| MT | m.8429C>A | CA414796060 | MT-ATP8 | c.64C>A (p.Leu22Ile) | dbSNP |
| MT | m.8429C= | CA2499565660 | MT-ATP8 | c.64C= (p.Leu22=) | |
| MT | m.8429C>G | CA414796062 | MT-ATP8 | c.64C>G (p.Leu22Val) | |
| MT | m.8429C>T | CA414796064 | MT-ATP8 | c.64C>T (p.Leu22Phe) | ClinVar dbSNP |
| MT | m.8430T>A | CA414796066 | MT-ATP8 | c.65T>A (p.Leu22His) | |
| MT | m.8430T>C | CA414796067 | MT-ATP8 | c.65T>C (p.Leu22Pro) | ClinVar dbSNP |
| MT | m.8430T>G | CA414796069 | MT-ATP8 | c.65T>G (p.Leu22Arg) | |
| MT | m.8430T= | CA2499565661 | MT-ATP8 | c.65T= (p.Leu22=) | |
| MT | m.8431C>A | CA913179201 | MT-ATP8 | c.66C>A (p.Leu22=) | |
| MT | m.8431C= | CA2499565662 | MT-ATP8 | c.66C= (p.Leu22=) | |
| MT | m.8431C>G | CA913179202 | MT-ATP8 | c.66C>G (p.Leu22=) | |
| MT | m.8431C>T | CA645611396 | MT-ATP8 | c.66C>T (p.Leu22=) | dbSNP COSMIC |
| MT | m.8431_8432insCCA | CA913190825 | MT-ATP8 | c.66_67insCCA (p.Leu22_Ile23insPro) | ClinVar dbSNP |
| MT | m.8432A= | CA2573329504 | MT-ATP8 | c.67A= (p.Ile23=) | |
| MT | m.8432A>C | CA414796075 | MT-ATP8 | c.67A>C (p.Ile23Leu) | dbSNP |
| MT | m.8432A>G | CA414796073 | MT-ATP8 | c.67A>G (p.Ile23Val) | |
| MT | m.8432A>T | CA414796071 | MT-ATP8 | c.67A>T (p.Ile23Phe) | |
| MT | m.8433T>A | CA414796077 | MT-ATP8 | c.68T>A (p.Ile23Asn) | |
| MT | m.8433T>C | CA414796079 | MT-ATP8 | c.68T>C (p.Ile23Thr) | ClinVar dbSNP |
| MT | m.8433T>G | CA414796081 | MT-ATP8 | c.68T>G (p.Ile23Ser) | |
| MT | m.8433T= | CA2499565663 | MT-ATP8 | c.68T= (p.Ile23=) | |
| MT | m.8434C>A | CA913179204 | MT-ATP8 | c.69C>A (p.Ile23=) | |
| MT | m.8434C= | CA2499565664 | MT-ATP8 | c.69C= (p.Ile23=) | |
| MT | m.8434C>G | CA414796082 | MT-ATP8 | c.69C>G (p.Ile23Met) | |
| MT | m.8434C>T | CA913179203 | MT-ATP8 | c.69C>T (p.Ile23=) | dbSNP |
| MT | m.8435A= | CA2499565665 | MT-ATP8 | c.70A= (p.Thr24=) | |
| MT | m.8435A>C | CA414796085 | MT-ATP8 | c.70A>C (p.Thr24Pro) | |
| MT | m.8435A>G | CA414796087 | MT-ATP8 | c.70A>G (p.Thr24Ala) | ClinVar dbSNP |
| MT | m.8435A>T | CA414796088 | MT-ATP8 | c.70A>T (p.Thr24Ser) | ClinVar dbSNP |
| MT | m.8436C>A | CA414796091 | MT-ATP8 | c.71C>A (p.Thr24Asn) | |
| MT | m.8436C= | CA2573329516 | MT-ATP8 | c.71C= (p.Thr24=) | |
| MT | m.8436C>G | CA414796093 | MT-ATP8 | c.71C>G (p.Thr24Ser) | |
| MT | m.8436C>T | CA414796094 | MT-ATP8 | c.71C>T (p.Thr24Ile) | |
| MT | m.8437C>A | CA913179209 | MT-ATP8 | c.72C>A (p.Thr24=) | |
| MT | m.8437C= | CA2573329517 | MT-ATP8 | c.72C= (p.Thr24=) | |
| MT | m.8437C>G | CA913179207 | MT-ATP8 | c.72C>G (p.Thr24=) | |
| MT | m.8437C>T | CA913179206 | MT-ATP8 | c.72C>T (p.Thr24=) | |
| MT | m.8438C>A | CA414796099 | MT-ATP8 | c.73C>A (p.Gln25Lys) | |
| MT | m.8438C= | CA2573329519 | MT-ATP8 | c.73C= (p.Gln25=) | |
| MT | m.8438C>G | CA414796100 | MT-ATP8 | c.73C>G (p.Gln25Glu) | |
| MT | m.8438C>T | CA414796097 | MT-ATP8 | c.73C>T (p.Gln25Ter) | |
| MT | m.8439A= | CA2573329521 | MT-ATP8 | c.74A= (p.Gln25=) | |
| MT | m.8439A>C | CA414796104 | MT-ATP8 | c.74A>C (p.Gln25Pro) | |
| MT | m.8439A>G | CA414796105 | MT-ATP8 | c.74A>G (p.Gln25Arg) | |
| MT | m.8439A>T | CA414796106 | MT-ATP8 | c.74A>T (p.Gln25Leu) | |
| MT | m.8440A= | CA2499565666 | MT-ATP8 | c.75A= (p.Gln25=) | |
| MT | m.8440A>C | CA337097871 | MT-ATP8 | c.75A>C (p.Gln25His) | |
| MT | m.8440A>G | CA913179213 | MT-ATP8 | c.75A>G (p.Gln25=) | dbSNP |
| MT | m.8440A>T | CA337097869 | MT-ATP8 | c.75A>T (p.Gln25His) | |
| MT | m.8441C>A | CA414796112 | MT-ATP8 | c.76C>A (p.Leu26Ile) | |
| MT | m.8441C= | CA2573329526 | MT-ATP8 | c.76C= (p.Leu26=) | |
| MT | m.8441C>G | CA414796111 | MT-ATP8 | c.76C>G (p.Leu26Val) | |
| MT | m.8441C>T | CA913179214 | MT-ATP8 | c.76C>T (p.Leu26=) | |
| MT | m.8441_8442del | CA2740098130 | MT-ATP8 | c.76_77del (p.Leu26LysfsTer22) | |
| MT | m.8442T>A | CA414796114 | MT-ATP8 | c.77T>A (p.Leu26Gln) | |
| MT | m.8442T>C | CA414796116 | MT-ATP8 | c.77T>C (p.Leu26Pro) | dbSNP |
| MT | m.8442T>G | CA414796118 | MT-ATP8 | c.77T>G (p.Leu26Arg) | |
| MT | m.8442T= | CA2573329530 | MT-ATP8 | c.77T= (p.Leu26=) | |
| MT | m.8443A= | CA2573329531 | MT-ATP8 | c.78A= (p.Leu26=) | |
| MT | m.8443A>C | CA913179219 | MT-ATP8 | c.78A>C (p.Leu26=) | |
| MT | m.8443A>G | CA913179222 | MT-ATP8 | c.78A>G (p.Leu26=) | |
| MT | m.8443A>T | CA913179218 | MT-ATP8 | c.78A>T (p.Leu26=) | |
| MT | m.8444A= | CA2573329533 | MT-ATP8 | c.79A= (p.Lys27=) | |
| MT | m.8444A>C | CA414796120 | MT-ATP8 | c.79A>C (p.Lys27Gln) | |
| MT | m.8444A>G | CA414796121 | MT-ATP8 | c.79A>G (p.Lys27Glu) | |
| MT | m.8444A>T | CA414796123 | MT-ATP8 | c.79A>T (p.Lys27Ter) | |
| MT | m.8445A= | CA2573329534 | MT-ATP8 | c.80A= (p.Lys27=) | |
| MT | m.8445A>C | CA414796125 | MT-ATP8 | c.80A>C (p.Lys27Thr) | |
| MT | m.8445A>G | CA414796129 | MT-ATP8 | c.80A>G (p.Lys27Arg) | |
| MT | m.8445A>T | CA414796127 | MT-ATP8 | c.80A>T (p.Lys27Ile) | |
| MT | m.8446A= | CA2573329535 | MT-ATP8 | c.81A= (p.Lys27=) | |
| MT | m.8446A>C | CA414796131 | MT-ATP8 | c.81A>C (p.Lys27Asn) | |
| MT | m.8446A>G | CA913179223 | MT-ATP8 | c.81A>G (p.Lys27=) | |
| MT | m.8446A>T | CA414796133 | MT-ATP8 | c.81A>T (p.Lys27Asn) | |
| MT | m.8447A= | CA2573329541 | MT-ATP8 | c.82A= (p.Ile28=) | |
| MT | m.8447A>C | CA414796135 | MT-ATP8 | c.82A>C (p.Ile28Leu) | |
| MT | m.8447A>G | CA414796137 | MT-ATP8 | c.82A>G (p.Ile28Val) | |
| MT | m.8447A>T | CA414796139 | MT-ATP8 | c.82A>T (p.Ile28Leu) | |
| MT | m.8448T>A | CA414796141 | MT-ATP8 | c.83T>A (p.Ile28Lys) | |
| MT | m.8448T>C | CA337097875 | MT-ATP8 | c.83T>C (p.Ile28Thr) | ClinVar dbSNP |
| MT | m.8448T>G | CA414796142 | MT-ATP8 | c.83T>G (p.Ile28Arg) | |
| MT | m.8448T= | CA2499565667 | MT-ATP8 | c.83T= (p.Ile28=) | |
| MT | m.8449A= | CA2573329547 | MT-ATP8 | c.84A= (p.Ile28=) | |
| MT | m.8449A>C | CA913179224 | MT-ATP8 | c.84A>C (p.Ile28=) | |
| MT | m.8449A>G | CA414796145 | MT-ATP8 | c.84A>G (p.Ile28Met) | dbSNP |
| MT | m.8449A>T | CA913179225 | MT-ATP8 | c.84A>T (p.Ile28=) | |
| MT | m.8450T>A | CA414796147 | MT-ATP8 | c.85T>A (p.Leu29Ile) | |
| MT | m.8450T>C | CA913179227 | MT-ATP8 | c.85T>C (p.Leu29=) | dbSNP |
| MT | m.8450T>G | CA337097877 | MT-ATP8 | c.85T>G (p.Leu29Val) | dbSNP |
| MT | m.8450T= | CA2499565668 | MT-ATP8 | c.85T= (p.Leu29=) | |
| MT | m.8451T>A | CA414796152 | MT-ATP8 | c.86T>A (p.Leu29Ter) | |
| MT | m.8451T>C | CA414796153 | MT-ATP8 | c.86T>C (p.Leu29Ser) | dbSNP |
| MT | m.8451T>G | CA414796150 | MT-ATP8 | c.86T>G (p.Leu29Ter) | dbSNP |
| MT | m.8451T= | CA2499565669 | MT-ATP8 | c.86T= (p.Leu29=) | |
| MT | m.8452A= | CA2573329553 | MT-ATP8 | c.87A= (p.Leu29=) | |
| MT | m.8452A>C | CA414796158 | MT-ATP8 | c.87A>C (p.Leu29Phe) | |
| MT | m.8452A>G | CA913179232 | MT-ATP8 | c.87A>G (p.Leu29=) | |
| MT | m.8452A>T | CA414796156 | MT-ATP8 | c.87A>T (p.Leu29Phe) | |
| MT | m.8453A= | CA2499565670 | MT-ATP8 | c.88A= (p.Asn30=) | |
| MT | m.8453A>C | CA414796164 | MT-ATP8 | c.88A>C (p.Asn30His) | |
| MT | m.8453A>G | CA414796160 | MT-ATP8 | c.88A>G (p.Asn30Asp) | ClinVar dbSNP |
| MT | m.8453A>T | CA414796162 | MT-ATP8 | c.88A>T (p.Asn30Tyr) | |
| MT | m.8454A= | CA2499565671 | MT-ATP8 | c.89A= (p.Asn30=) | |
| MT | m.8454A>C | CA414796166 | MT-ATP8 | c.89A>C (p.Asn30Thr) | |
| MT | m.8454A>G | CA414796168 | MT-ATP8 | c.89A>G (p.Asn30Ser) | ClinVar dbSNP |
| MT | m.8454A>T | CA414796170 | MT-ATP8 | c.89A>T (p.Asn30Ile) | |
| MT | m.8457_8458del | CA2573105001 | MT-ATP8 | c.92_93del (p.Thr31LysfsTer17) | |
| MT | m.8455C>A | CA414796172 | MT-ATP8 | c.90C>A (p.Asn30Lys) | |
| MT | m.8455C= | CA2499565672 | MT-ATP8 | c.90C= (p.Asn30=) | |
| MT | m.8455C>G | CA414796174 | MT-ATP8 | c.90C>G (p.Asn30Lys) | |
| MT | m.8455C>T | CA913179235 | MT-ATP8 | c.90C>T (p.Asn30=) | dbSNP |
| MT | m.8456A= | CA2573329563 | MT-ATP8 | c.91A= (p.Thr31=) | |
| MT | m.8456A>C | CA414796176 | MT-ATP8 | c.91A>C (p.Thr31Pro) | |
| MT | m.8456A>G | CA414796178 | MT-ATP8 | c.91A>G (p.Thr31Ala) | |
| MT | m.8456A>T | CA414796179 | MT-ATP8 | c.91A>T (p.Thr31Ser) | |
| MT | m.8457C>A | CA414796186 | MT-ATP8 | c.92C>A (p.Thr31Lys) | |
| MT | m.8457C= | CA2573329566 | MT-ATP8 | c.92C= (p.Thr31=) | |
| MT | m.8457C>G | CA414796184 | MT-ATP8 | c.92C>G (p.Thr31Arg) | |
| MT | m.8457C>T | CA414796183 | MT-ATP8 | c.92C>T (p.Thr31Ile) | |
| MT | m.8458A= | CA2573329568 | MT-ATP8 | c.93A= (p.Thr31=) | |
| MT | m.8458A>C | CA913179241 | MT-ATP8 | c.93A>C (p.Thr31=) | |
| MT | m.8458A>G | CA913179240 | MT-ATP8 | c.93A>G (p.Thr31=) | |
| MT | m.8458A>T | CA913179239 | MT-ATP8 | c.93A>T (p.Thr31=) | |
| MT | m.8459A= | CA2499565673 | MT-ATP8 | c.94A= (p.Asn32=) | |
| MT | m.8459A>C | CA414796188 | MT-ATP8 | c.94A>C (p.Asn32His) | |
| MT | m.8459A>G | CA414796190 | MT-ATP8 | c.94A>G (p.Asn32Asp) | dbSNP |
| MT | m.8459A>T | CA414796191 | MT-ATP8 | c.94A>T (p.Asn32Tyr) | |
| MT | m.8460A= | CA2499565674 | MT-ATP8 | c.95A= (p.Asn32=) | |
| MT | m.8460A>C | CA414796192 | MT-ATP8 | c.95A>C (p.Asn32Thr) | |
| MT | m.8460A>G | CA337097881 | MT-ATP8 | c.95A>G (p.Asn32Ser) | ClinVar dbSNP |
| MT | m.8460A>T | CA414796193 | MT-ATP8 | c.95A>T (p.Asn32Ile) | |
| MT | m.8461C>A | CA414796194 | MT-ATP8 | c.96C>A (p.Asn32Lys) | ClinVar dbSNP |
| MT | m.8461C= | CA2499565675 | MT-ATP8 | c.96C= (p.Asn32=) | |
| MT | m.8461C>G | CA414796195 | MT-ATP8 | c.96C>G (p.Asn32Lys) | |
| MT | m.8461C>T | CA913179243 | MT-ATP8 | c.96C>T (p.Asn32=) | dbSNP |
| MT | m.8462T>A | CA414796197 | MT-ATP8 | c.97T>A (p.Tyr33Asn) | |
| MT | m.8462T>C | CA414796199 | MT-ATP8 | c.97T>C (p.Tyr33His) | ClinVar dbSNP |
| MT | m.8462T>G | CA414796201 | MT-ATP8 | c.97T>G (p.Tyr33Asp) | |
| MT | m.8462T= | CA2499565676 | MT-ATP8 | c.97T= (p.Tyr33=) | |
| MT | m.8463A= | CA2499565677 | MT-ATP8 | c.98A= (p.Tyr33=) | |
| MT | m.8463A>C | CA414796206 | MT-ATP8 | c.98A>C (p.Tyr33Ser) | |
| MT | m.8463A>G | CA414796207 | MT-ATP8 | c.98A>G (p.Tyr33Cys) | ClinVar dbSNP |
| MT | m.8463A>T | CA414796204 | MT-ATP8 | c.98A>T (p.Tyr33Phe) | |
| MT | m.8464C>A | CA414796209 | MT-ATP8 | c.99C>A (p.Tyr33Ter) | |
| MT | m.8464C= | CA2499565678 | MT-ATP8 | c.99C= (p.Tyr33=) | |
| MT | m.8464C>G | CA414796211 | MT-ATP8 | c.99C>G (p.Tyr33Ter) | |
| MT | m.8464C>T | CA913179246 | MT-ATP8 | c.99C>T (p.Tyr33=) | dbSNP |
| MT | m.8465C>A | CA414796213 | MT-ATP8 | c.100C>A (p.His34Asn) | |
| MT | m.8465C= | CA2573329584 | MT-ATP8 | c.100C= (p.His34=) | |
| MT | m.8465C>G | CA414796214 | MT-ATP8 | c.100C>G (p.His34Asp) | |
| MT | m.8465C>T | CA414796216 | MT-ATP8 | c.100C>T (p.His34Tyr) | |
| MT | m.8466A= | CA2499565679 | MT-ATP8 | c.101A= (p.His34=) | |
| MT | m.8466A>C | CA414796222 | MT-ATP8 | c.101A>C (p.His34Pro) | dbSNP |
| MT | m.8466A>G | CA414796218 | MT-ATP8 | c.101A>G (p.His34Arg) | ClinVar dbSNP |
| MT | m.8466A>T | CA414796220 | MT-ATP8 | c.101A>T (p.His34Leu) | |
| MT | m.8467C>A | CA414796223 | MT-ATP8 | c.102C>A (p.His34Gln) | |
| MT | m.8467C= | CA2499565680 | MT-ATP8 | c.102C= (p.His34=) | |
| MT | m.8467C>G | CA414796225 | MT-ATP8 | c.102C>G (p.His34Gln) | |
| MT | m.8467C>T | CA913179250 | MT-ATP8 | c.102C>T (p.His34=) | dbSNP |
| MT | m.8468C>A | CA414796228 | MT-ATP8 | c.103C>A (p.Leu35Ile) | dbSNP |
| MT | m.8468C= | CA2499565681 | MT-ATP8 | c.103C= (p.Leu35=) | |
| MT | m.8468C>G | CA414796229 | MT-ATP8 | c.103C>G (p.Leu35Val) | |
| MT | m.8468C>T | CA337097884 | MT-ATP8 | c.103C>T (p.Leu35=) | dbSNP |
| MT | m.8469T>A | CA414796232 | MT-ATP8 | c.104T>A (p.Leu35Gln) | |
| MT | m.8469T>C | CA414796235 | MT-ATP8 | c.104T>C (p.Leu35Pro) | ClinVar dbSNP |
| MT | m.8469T>G | CA414796234 | MT-ATP8 | c.104T>G (p.Leu35Arg) | |
| MT | m.8469T= | CA2499565682 | MT-ATP8 | c.104T= (p.Leu35=) | |
| MT | m.8470A= | CA2499565683 | MT-ATP8 | c.105A= (p.Leu35=) | |
| MT | m.8470A>C | CA913179261 | MT-ATP8 | c.105A>C (p.Leu35=) | |
| MT | m.8470A>G | CA913179257 | MT-ATP8 | c.105A>G (p.Leu35=) | dbSNP |
| MT | m.8470A>T | CA913179260 | MT-ATP8 | c.105A>T (p.Leu35=) | dbSNP |
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8471C>A | CA414796238 | MT-ATP8 | c.106C>A (p.Pro36Thr) | |
| MT | m.8471C= | CA2499565684 | MT-ATP8 | c.106C= (p.Pro36=) | |
| MT | m.8471C>G | CA414796239 | MT-ATP8 | c.106C>G (p.Pro36Ala) | |
| MT | m.8471C>T | CA414796241 | MT-ATP8 | c.106C>T (p.Pro36Ser) | ClinVar dbSNP |
| MT | m.8475_8478dup | CA2740098131 | MT-ATP8 | c.110_113dup (p.Pro39LeufsTer11) | |
| MT | m.8472C>A | CA414796243 | MT-ATP8 | c.107C>A (p.Pro36His) | dbSNP |
| MT | m.8472C= | CA2499565685 | MT-ATP8 | c.107C= (p.Pro36=) | |
| MT | m.8472C>G | CA414796245 | MT-ATP8 | c.107C>G (p.Pro36Arg) | |
| MT | m.8472C>T | CA337097887 | MT-ATP8 | c.107C>T (p.Pro36Leu) | ClinVar dbSNP |
| MT | m.8473T>A | CA913179264 | MT-ATP8 | c.108T>A (p.Pro36=) | dbSNP |
| MT | m.8473T>C | CA337097896 | MT-ATP8 | c.108T>C (p.Pro36=) | dbSNP |
| MT | m.8473T>G | CA913179263 | MT-ATP8 | c.108T>G (p.Pro36=) | |
| MT | m.8473T= | CA2499565686 | MT-ATP8 | c.108T= (p.Pro36=) | |
| MT | m.8473dup | CA2573105002 | MT-ATP8 | c.108dup (p.Pro37SerfsTer12) | |
| MT | m.8474C>A | CA414796251 | MT-ATP8 | c.109C>A (p.Pro37Thr) | |
| MT | m.8474C= | CA2499565687 | MT-ATP8 | c.109C= (p.Pro37=) | |
| MT | m.8474C>G | CA414796252 | MT-ATP8 | c.109C>G (p.Pro37Ala) | |
| MT | m.8474C>T | CA414796253 | MT-ATP8 | c.109C>T (p.Pro37Ser) | ClinVar dbSNP |
| MT | m.8475C>A | CA414796262 | MT-ATP8 | c.110C>A (p.Pro37His) | |
| MT | m.8475C= | CA2573329606 | MT-ATP8 | c.110C= (p.Pro37=) | |
| MT | m.8475C>G | CA414796260 | MT-ATP8 | c.110C>G (p.Pro37Arg) | |
| MT | m.8475C>T | CA414796256 | MT-ATP8 | c.110C>T (p.Pro37Leu) | |
| MT | m.8476C>A | CA913179267 | MT-ATP8 | c.111C>A (p.Pro37=) | |
| MT | m.8476C= | CA2573329607 | MT-ATP8 | c.111C= (p.Pro37=) | |
| MT | m.8476C>G | CA913179266 | MT-ATP8 | c.111C>G (p.Pro37=) | |
| MT | m.8476C>T | CA913179265 | MT-ATP8 | c.111C>T (p.Pro37=) | |
| MT | m.8477T>A | CA414796264 | MT-ATP8 | c.112T>A (p.Ser38Thr) | |
| MT | m.8477T>C | CA414796268 | MT-ATP8 | c.112T>C (p.Ser38Pro) | ClinVar dbSNP |
| MT | m.8477T>G | CA414796266 | MT-ATP8 | c.112T>G (p.Ser38Ala) | |
| MT | m.8477T= | CA2499565688 | MT-ATP8 | c.112T= (p.Ser38=) | |
| MT | m.8478C>A | CA414796272 | MT-ATP8 | c.113C>A (p.Ser38Ter) | |
| MT | m.8478C= | CA2499565689 | MT-ATP8 | c.113C= (p.Ser38=) | |
| MT | m.8478C>G | CA414796274 | MT-ATP8 | c.113C>G (p.Ser38Ter) | |
| MT | m.8478C>T | CA337097898 | MT-ATP8 | c.113C>T (p.Ser38Leu) | ClinVar dbSNP |
| MT | m.8479A= | CA2499565690 | MT-ATP8 | c.114A= (p.Ser38=) | |
| MT | m.8479A>C | CA913179274 | MT-ATP8 | c.114A>C (p.Ser38=) | |
| MT | m.8479A>G | CA913179269 | MT-ATP8 | c.114A>G (p.Ser38=) | dbSNP |
| MT | m.8479A>T | CA913179268 | MT-ATP8 | c.114A>T (p.Ser38=) | dbSNP |
| MT | m.8480C>A | CA414796277 | MT-ATP8 | c.115C>A (p.Pro39Thr) | |
| MT | m.8480C= | CA2499565691 | MT-ATP8 | c.115C= (p.Pro39=) | |
| MT | m.8480C>G | CA414796279 | MT-ATP8 | c.115C>G (p.Pro39Ala) | |
| MT | m.8480C>T | CA414796281 | MT-ATP8 | c.115C>T (p.Pro39Ser) | ClinVar dbSNP |
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8481C>A | CA414796283 | MT-ATP8 | c.116C>A (p.Pro39Gln) | |
| MT | m.8481C= | CA2499565692 | MT-ATP8 | c.116C= (p.Pro39=) | |
| MT | m.8481C>G | CA414796285 | MT-ATP8 | c.116C>G (p.Pro39Arg) | |
| MT | m.8481C>T | CA414796287 | MT-ATP8 | c.116C>T (p.Pro39Leu) | ClinVar dbSNP |
| MT | m.8482A= | CA2573329622 | MT-ATP8 | c.117A= (p.Pro39=) | |
| MT | m.8482A>C | CA913179283 | MT-ATP8 | c.117A>C (p.Pro39=) | |
| MT | m.8482A>G | CA913179279 | MT-ATP8 | c.117A>G (p.Pro39=) | |
| MT | m.8482A>T | CA913179278 | MT-ATP8 | c.117A>T (p.Pro39=) | |
| MT | m.8483A= | CA2499565693 | MT-ATP8 | c.118A= (p.Lys40=) | |
| MT | m.8483A>C | CA414796289 | MT-ATP8 | c.118A>C (p.Lys40Gln) | |
| MT | m.8483A>G | CA337097900 | MT-ATP8 | c.118A>G (p.Lys40Glu) | dbSNP |
| MT | m.8483A>T | CA414796292 | MT-ATP8 | c.118A>T (p.Lys40Ter) | |
| MT | m.8484A= | CA2513196715 | MT-ATP8 | c.119A= (p.Lys40=) | |
| MT | m.8484A>C | CA414796293 | MT-ATP8 | c.119A>C (p.Lys40Thr) | |
| MT | m.8484A>G | CA414796297 | MT-ATP8 | c.119A>G (p.Lys40Arg) | |
| MT | m.8484A>T | CA414796295 | MT-ATP8 | c.119A>T (p.Lys40Met) | |
| MT | m.8485G>A | CA337097902 | MT-ATP8 | c.120G>A (p.Lys40=) | dbSNP |
| MT | m.8485G>C | CA414796299 | MT-ATP8 | c.120G>C (p.Lys40Asn) | |
| MT | m.8485G= | CA2499565694 | MT-ATP8 | c.120G= (p.Lys40=) | |
| MT | m.8485G>T | CA414796301 | MT-ATP8 | c.120G>T (p.Lys40Asn) | dbSNP |
| MT | m.8486C>A | CA414796304 | MT-ATP8 | c.121C>A (p.Pro41Thr) | |
| MT | m.8486C= | CA2499565695 | MT-ATP8 | c.121C= (p.Pro41=) | |
| MT | m.8486C>G | CA414796305 | MT-ATP8 | c.121C>G (p.Pro41Ala) | |
| MT | m.8486C>T | CA414796307 | MT-ATP8 | c.121C>T (p.Pro41Ser) | dbSNP |