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.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 |
| MT | m.8487C>A | CA414796310 | MT-ATP8 | c.122C>A (p.Pro41His) | |
| MT | m.8487C= | CA2573329627 | MT-ATP8 | c.122C= (p.Pro41=) | |
| MT | m.8487C>G | CA414796311 | MT-ATP8 | c.122C>G (p.Pro41Arg) | |
| MT | m.8487C>T | CA414796312 | MT-ATP8 | c.122C>T (p.Pro41Leu) | |
| MT | m.8488C>A | CA913179290 | MT-ATP8 | c.123C>A (p.Pro41=) | |
| MT | m.8488C= | CA2499565696 | MT-ATP8 | c.123C= (p.Pro41=) | |
| MT | m.8488C>G | CA913179289 | MT-ATP8 | c.123C>G (p.Pro41=) | dbSNP |
| MT | m.8488C>T | CA913179288 | MT-ATP8 | c.123C>T (p.Pro41=) | dbSNP |
| MT | m.8489A= | CA2499565697 | MT-ATP8 | c.124A= (p.Ile42=) | |
| MT | m.8489A>C | CA414796318 | MT-ATP8 | c.124A>C (p.Ile42Leu) | |
| MT | m.8489A>G | CA414796317 | MT-ATP8 | c.124A>G (p.Ile42Val) | ClinVar dbSNP |
| MT | m.8489A>T | CA414796315 | MT-ATP8 | c.124A>T (p.Ile42Leu) | |
| MT | m.8490T>A | CA414796321 | MT-ATP8 | c.125T>A (p.Ile42Lys) | |
| MT | m.8490T>C | CA414796323 | MT-ATP8 | c.125T>C (p.Ile42Thr) | ClinVar dbSNP |
| MT | m.8490T>G | CA414796324 | MT-ATP8 | c.125T>G (p.Ile42Arg) | |
| MT | m.8490T= | CA2499565698 | MT-ATP8 | c.125T= (p.Ile42=) | |
| MT | m.8491A= | CA2573329635 | MT-ATP8 | c.126A= (p.Ile42=) | |
| MT | m.8491A>C | CA913179295 | MT-ATP8 | c.126A>C (p.Ile42=) | |
| MT | m.8491A>G | CA414796327 | MT-ATP8 | c.126A>G (p.Ile42Met) | |
| MT | m.8491A>T | CA913179294 | MT-ATP8 | c.126A>T (p.Ile42=) | |
| MT | m.8495dup | CA2740098132 | MT-ATP8 | c.130dup (p.Ile44AsnfsTer5) | |
| MT | m.8495del | CA2573105004 | MT-ATP8 | c.130del (p.Ile44Ter) | |
| MT | m.8492A= | CA2499565699 | MT-ATP8 | c.127A= (p.Lys43=) | |
| MT | m.8492A>C | CA414796329 | MT-ATP8 | c.127A>C (p.Lys43Gln) | |
| MT | m.8492A>G | CA414796333 | MT-ATP8 | c.127A>G (p.Lys43Glu) | dbSNP |
| MT | m.8492A>T | CA414796335 | MT-ATP8 | c.127A>T (p.Lys43Ter) | |
| MT | m.8493A= | CA2573329638 | MT-ATP8 | c.128A= (p.Lys43=) | |
| MT | m.8493A>C | CA414796337 | MT-ATP8 | c.128A>C (p.Lys43Thr) | |
| MT | m.8493A>G | CA414796339 | MT-ATP8 | c.128A>G (p.Lys43Arg) | |
| MT | m.8493A>T | CA414796341 | MT-ATP8 | c.128A>T (p.Lys43Ile) | |
| MT | m.8494A= | CA2499565700 | MT-ATP8 | c.129A= (p.Lys43=) | |
| MT | m.8494A>C | CA414796343 | MT-ATP8 | c.129A>C (p.Lys43Asn) | |
| MT | m.8494A>G | CA913179297 | MT-ATP8 | c.129A>G (p.Lys43=) | dbSNP |
| MT | m.8494A>T | CA414796345 | MT-ATP8 | c.129A>T (p.Lys43Asn) | |
| MT | m.8495A= | CA2573329639 | MT-ATP8 | c.130A= (p.Ile44=) | |
| MT | m.8495A>C | CA414796351 | MT-ATP8 | c.130A>C (p.Ile44Leu) | |
| MT | m.8495A>G | CA414796348 | MT-ATP8 | c.130A>G (p.Ile44Val) | |
| MT | m.8495A>T | CA414796349 | MT-ATP8 | c.130A>T (p.Ile44Leu) | |
| MT | m.8496T>A | CA414796354 | MT-ATP8 | c.131T>A (p.Ile44Lys) | |
| MT | m.8496T>C | CA414796355 | MT-ATP8 | c.131T>C (p.Ile44Thr) | ClinVar dbSNP |
| MT | m.8496T>G | CA414796357 | MT-ATP8 | c.131T>G (p.Ile44Arg) | |
| MT | m.8496T= | CA2499565701 | MT-ATP8 | c.131T= (p.Ile44=) | |
| MT | m.8497A= | CA2499565702 | MT-ATP8 | c.132A= (p.Ile44=) | |
| MT | m.8497A>C | CA913179302 | MT-ATP8 | c.132A>C (p.Ile44=) | |
| MT | m.8497A>G | CA414796359 | MT-ATP8 | c.132A>G (p.Ile44Met) | dbSNP |
| MT | m.8497A>T | CA913179301 | MT-ATP8 | c.132A>T (p.Ile44=) | |
| MT | m.8502del | CA2573105005 | MT-ATP8 | c.137del (p.Asn46IlefsTer?) | |
| MT | m.8500_8502del | CA2573105006 | MT-ATP8 | c.135_137del (p.Lys45del) | |
| MT | m.8498A= | CA2573329645 | MT-ATP8 | c.133A= (p.Lys45=) | |
| MT | m.8498A>C | CA414796362 | MT-ATP8 | c.133A>C (p.Lys45Gln) | |
| MT | m.8498A>G | CA414796364 | MT-ATP8 | c.133A>G (p.Lys45Glu) | |
| MT | m.8498A>T | CA414796366 | MT-ATP8 | c.133A>T (p.Lys45Ter) | |
| MT | m.8499A= | CA2573329648 | MT-ATP8 | c.134A= (p.Lys45=) | |
| MT | m.8499A>C | CA414796368 | MT-ATP8 | c.134A>C (p.Lys45Thr) | |
| MT | m.8499A>G | CA414796370 | MT-ATP8 | c.134A>G (p.Lys45Arg) | |
| MT | m.8499A>T | CA414796372 | MT-ATP8 | c.134A>T (p.Lys45Ile) | |
| MT | m.8500A= | CA2573329651 | MT-ATP8 | c.135A= (p.Lys45=) | |
| MT | m.8500A>C | CA414796373 | MT-ATP8 | c.135A>C (p.Lys45Asn) | |
| MT | m.8500A>G | CA913179309 | MT-ATP8 | c.135A>G (p.Lys45=) | |
| MT | m.8500A>T | CA414796375 | MT-ATP8 | c.135A>T (p.Lys45Asn) | |
| MT | m.8501A= | CA2499565703 | MT-ATP8 | c.136A= (p.Asn46=) | |
| MT | m.8501A>C | CA414796379 | MT-ATP8 | c.136A>C (p.Asn46His) | |
| MT | m.8501A>G | CA414796381 | MT-ATP8 | c.136A>G (p.Asn46Asp) | dbSNP |
| MT | m.8501A>T | CA414796377 | MT-ATP8 | c.136A>T (p.Asn46Tyr) | dbSNP |
| MT | m.8502A= | CA2499565704 | MT-ATP8 | c.137A= (p.Asn46=) | |
| MT | m.8502A>C | CA414796383 | MT-ATP8 | c.137A>C (p.Asn46Thr) | |
| MT | m.8502A>G | CA337097903 | MT-ATP8 | c.137A>G (p.Asn46Ser) | ClinVar dbSNP |
| MT | m.8502A>T | CA414796385 | MT-ATP8 | c.137A>T (p.Asn46Ile) | ClinVar dbSNP |
| MT | m.8504_8506del | CA2573105007 | MT-ATP8 | c.139_141del (p.Tyr47del) | |
| MT | m.8503T>A | CA414796387 | MT-ATP8 | c.138T>A (p.Asn46Lys) | |
| MT | m.8503T>C | CA913179314 | MT-ATP8 | c.138T>C (p.Asn46=) | dbSNP |
| MT | m.8503T>G | CA414796388 | MT-ATP8 | c.138T>G (p.Asn46Lys) | |
| MT | m.8503T= | CA2499565705 | MT-ATP8 | c.138T= (p.Asn46=) | |
| MT | m.8503_8504del | CA2573105008 | MT-ATP8 | c.138_139del (p.Asn46LysfsTer2) | |
| MT | m.8504T>A | CA414796391 | MT-ATP8 | c.139T>A (p.Tyr47Asn) | |
| MT | m.8504T>C | CA414796394 | MT-ATP8 | c.139T>C (p.Tyr47His) | ClinVar dbSNP |
| MT | m.8504T>G | CA414796393 | MT-ATP8 | c.139T>G (p.Tyr47Asp) | |
| MT | m.8504T= | CA2499565706 | MT-ATP8 | c.139T= (p.Tyr47=) | |
| MT | m.8505A= | CA2573329667 | MT-ATP8 | c.140A= (p.Tyr47=) | |
| MT | m.8505A>C | CA414796397 | MT-ATP8 | c.140A>C (p.Tyr47Ser) | |
| MT | m.8505A>G | CA414796401 | MT-ATP8 | c.140A>G (p.Tyr47Cys) | |
| MT | m.8505A>T | CA414796399 | MT-ATP8 | c.140A>T (p.Tyr47Phe) | |
| MT | m.8506T>A | CA414796402 | MT-ATP8 | c.141T>A (p.Tyr47Ter) | |
| MT | m.8506T>C | CA913179322 | MT-ATP8 | c.141T>C (p.Tyr47=) | dbSNP |
| MT | m.8506T>G | CA414796404 | MT-ATP8 | c.141T>G (p.Tyr47Ter) | |
| MT | m.8506T= | CA2499565707 | MT-ATP8 | c.141T= (p.Tyr47=) | |
| MT | m.8507A= | CA2499565708 | MT-ATP8 | c.142A= (p.Asn48=) | |
| MT | m.8507A>C | CA414796406 | MT-ATP8 | c.142A>C (p.Asn48His) | |
| MT | m.8507A>G | CA414796407 | MT-ATP8 | c.142A>G (p.Asn48Asp) | ClinVar dbSNP |
| MT | m.8507A>T | CA414796410 | MT-ATP8 | c.142A>T (p.Asn48Tyr) | |
| MT | m.8508A= | CA2499565709 | MT-ATP8 | c.143A= (p.Asn48=) | |
| MT | m.8508A>C | CA414796412 | MT-ATP8 | c.143A>C (p.Asn48Thr) | |
| MT | m.8508A>G | CA414796414 | MT-ATP8 | c.143A>G (p.Asn48Ser) | ClinVar dbSNP |
| MT | m.8508A>T | CA414796416 | MT-ATP8 | c.143A>T (p.Asn48Ile) | |
| MT | m.8509_8510del | CA2573105009 | MT-ATP8 | c.144_145del (p.Asn48LysfsTer?) | |
| MT | m.8509C>A | CA414796418 | MT-ATP8 | c.144C>A (p.Asn48Lys) | |
| MT | m.8509C= | CA2499565710 | MT-ATP8 | c.144C= (p.Asn48=) | |
| MT | m.8509C>G | CA414796420 | MT-ATP8 | c.144C>G (p.Asn48Lys) | |
| MT | m.8509C>T | CA913179326 | MT-ATP8 | c.144C>T (p.Asn48=) | dbSNP |
| MT | m.8510A= | CA2573329676 | MT-ATP8 | c.145A= (p.Lys49=) | |
| MT | m.8510A>C | CA414796422 | MT-ATP8 | c.145A>C (p.Lys49Gln) | |
| MT | m.8510A>G | CA414796426 | MT-ATP8 | c.145A>G (p.Lys49Glu) | |
| MT | m.8510A>T | CA414796424 | MT-ATP8 | c.145A>T (p.Lys49Ter) | |
| MT | m.8511A= | CA2573329677 | MT-ATP8 | c.146A= (p.Lys49=) | |
| MT | m.8511A>C | CA414796428 | MT-ATP8 | c.146A>C (p.Lys49Thr) | |
| MT | m.8511A>G | CA414796430 | MT-ATP8 | c.146A>G (p.Lys49Arg) | |
| MT | m.8511A>T | CA414796432 | MT-ATP8 | c.146A>T (p.Lys49Ile) | |
| MT | m.8512A= | CA2499565711 | MT-ATP8 | c.147A= (p.Lys49=) | |
| MT | m.8512A>C | CA414796434 | MT-ATP8 | c.147A>C (p.Lys49Asn) | |
| MT | m.8512A>G | CA913179333 | MT-ATP8 | c.147A>G (p.Lys49=) | dbSNP |
| MT | m.8512A>T | CA414796436 | MT-ATP8 | c.147A>T (p.Lys49Asn) | |
| MT | m.8513C>A | CA414796438 | MT-ATP8 | c.148C>A (p.Pro50Thr) | dbSNP |
| MT | m.8513C= | CA2499565712 | MT-ATP8 | c.148C= (p.Pro50=) | |
| MT | m.8513C>G | CA414796440 | MT-ATP8 | c.148C>G (p.Pro50Ala) | |
| MT | m.8513C>T | CA414796442 | MT-ATP8 | c.148C>T (p.Pro50Ser) | |
| MT | m.8513_8517del | CA2573105010 | MT-ATP8 | c.148_152del (p.Pro50ArgfsTer?) | |
| MT | m.8514C>A | CA414796446 | MT-ATP8 | c.149C>A (p.Pro50His) | |
| MT | m.8514C= | CA2499565713 | MT-ATP8 | c.149C= (p.Pro50=) | |
| MT | m.8514C>G | CA414796448 | MT-ATP8 | c.149C>G (p.Pro50Arg) | |
| MT | m.8514C>T | CA414796444 | MT-ATP8 | c.149C>T (p.Pro50Leu) | ClinVar dbSNP |
| MT | m.8515C>A | CA913179338 | MT-ATP8 | c.150C>A (p.Pro50=) | |
| MT | m.8515C= | CA2499565714 | MT-ATP8 | c.150C= (p.Pro50=) | |
| MT | m.8515C>G | CA913179337 | MT-ATP8 | c.150C>G (p.Pro50=) | |
| MT | m.8515C>T | CA913179336 | MT-ATP8 | c.150C>T (p.Pro50=) | dbSNP |
| MT | m.8516T>A | CA414796450 | MT-ATP8 | c.151T>A (p.Ter51Arg) | |
| MT | m.8516T>C | CA337097904 | MT-ATP8 | c.151T>C (p.Ter51Arg) | ClinVar dbSNP |
| MT | m.8516T>G | CA414796453 | MT-ATP8 | c.151T>G (p.Ter51Gly) | |
| MT | m.8516T= | CA414796455 | MT-ATP8 | c.151T= (p.Ter51=) | |
| MT | m.8517G>A | CA414796457 | MT-ATP8 | c.152G>A (p.Ter51=) | dbSNP |
| MT | m.8517G>C | CA414796459 | MT-ATP8 | c.152G>C (p.Ter51Ser) | |
| MT | m.8517G= | CA414796460 | MT-ATP8 | c.152G= (p.Ter51=) | |
| MT | m.8517G>T | CA414796462 | MT-ATP8 | c.152G>T (p.Ter51Leu) | |
| MT | m.8519_8520del | CA2739234035 | MT-ATP8 | c.154_155del (p.Glu52ThrfsTer?) | dbSNP |
| MT | m.8518A= | CA414796465 | MT-ATP8 | c.153A= (p.Ter51=) | |
| MT | m.8518A>C | CA414796466 | MT-ATP8 | c.153A>C (p.Ter51Cys) | |
| MT | m.8518A>G | CA414796468 | MT-ATP8 | c.153A>G (p.Ter51Trp) | dbSNP |
| MT | m.8518A>T | CA414796470 | MT-ATP8 | c.153A>T (p.Ter51Cys) |