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.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8587_12967del | CA645373337 | ClinVar | ||
| MT | m.8656A= | CA2499565838 | MT-ATP6 | c.130A= (p.Thr44=) | |
| MT | m.8656A>C | CA414797212 | MT-ATP6 | c.130A>C (p.Thr44Pro) | |
| MT | m.8656A>G | CA414797214 | MT-ATP6 | c.130A>G (p.Thr44Ala) | ClinVar dbSNP |
| MT | m.8656A>T | CA414797216 | MT-ATP6 | c.130A>T (p.Thr44Ser) | |
| MT | m.8657C>A | CA414797219 | MT-ATP6 | c.131C>A (p.Thr44Asn) | |
| MT | m.8657C= | CA2499565840 | MT-ATP6 | c.131C= (p.Thr44=) | |
| MT | m.8657C>G | CA414797223 | MT-ATP6 | c.131C>G (p.Thr44Ser) | |
| MT | m.8657C>T | CA414797229 | MT-ATP6 | c.131C>T (p.Thr44Ile) | ClinVar dbSNP |
| MT | m.8658C>A | CA913179559 | MT-ATP6 | c.132C>A (p.Thr44=) | |
| MT | m.8658C= | CA2499565842 | MT-ATP6 | c.132C= (p.Thr44=) | |
| MT | m.8658C>G | CA913179557 | MT-ATP6 | c.132C>G (p.Thr44=) | |
| MT | m.8658C>T | CA913179556 | MT-ATP6 | c.132C>T (p.Thr44=) | dbSNP |
| MT | m.8659A= | CA2499565844 | MT-ATP6 | c.133A= (p.Thr45=) | |
| MT | m.8659A>C | CA414797231 | MT-ATP6 | c.133A>C (p.Thr45Pro) | |
| MT | m.8659A>G | CA337097977 | MT-ATP6 | c.133A>G (p.Thr45Ala) | ClinVar dbSNP |
| MT | m.8659A>T | CA414797235 | MT-ATP6 | c.133A>T (p.Thr45Ser) | |
| MT | m.8660C>A | CA414797244 | MT-ATP6 | c.134C>A (p.Thr45Asn) | |
| MT | m.8660C= | CA2499565846 | MT-ATP6 | c.134C= (p.Thr45=) | |
| MT | m.8660C>G | CA414797238 | MT-ATP6 | c.134C>G (p.Thr45Ser) | |
| MT | m.8660C>T | CA414797240 | MT-ATP6 | c.134C>T (p.Thr45Ile) | dbSNP |
| MT | m.8661C>A | CA913179564 | MT-ATP6 | c.135C>A (p.Thr45=) | |
| MT | m.8661C= | CA2499565848 | MT-ATP6 | c.135C= (p.Thr45=) | |
| MT | m.8661C>G | CA913179563 | MT-ATP6 | c.135C>G (p.Thr45=) | |
| MT | m.8661C>T | CA913179561 | MT-ATP6 | c.135C>T (p.Thr45=) | dbSNP |
| MT | m.8662C>A | CA414797248 | MT-ATP6 | c.136C>A (p.Gln46Lys) | |
| MT | m.8662C= | CA2573329988 | MT-ATP6 | c.136C= (p.Gln46=) | |
| MT | m.8662C>G | CA414797250 | MT-ATP6 | c.136C>G (p.Gln46Glu) | |
| MT | m.8662C>T | CA414797253 | MT-ATP6 | c.136C>T (p.Gln46Ter) | |
| MT | m.8663A= | CA2573329990 | MT-ATP6 | c.137A= (p.Gln46=) | |
| MT | m.8663A>C | CA414797256 | MT-ATP6 | c.137A>C (p.Gln46Pro) | |
| MT | m.8663A>G | CA414797257 | MT-ATP6 | c.137A>G (p.Gln46Arg) | |
| MT | m.8663A>T | CA414797261 | MT-ATP6 | c.137A>T (p.Gln46Leu) | |
| MT | m.8664A= | CA2573329992 | MT-ATP6 | c.138A= (p.Gln46=) | |
| MT | m.8664A>C | CA414797264 | MT-ATP6 | c.138A>C (p.Gln46His) | |
| MT | m.8664A>G | CA913179569 | MT-ATP6 | c.138A>G (p.Gln46=) | |
| MT | m.8664A>T | CA414797267 | MT-ATP6 | c.138A>T (p.Gln46His) | |
| MT | m.8665C>A | CA414797271 | MT-ATP6 | c.139C>A (p.Gln47Lys) | |
| MT | m.8665C= | CA2573329996 | MT-ATP6 | c.139C= (p.Gln47=) | |
| MT | m.8665C>G | CA414797273 | MT-ATP6 | c.139C>G (p.Gln47Glu) | |
| MT | m.8665C>T | CA414797276 | MT-ATP6 | c.139C>T (p.Gln47Ter) | |
| MT | m.8666A= | CA2499565849 | MT-ATP6 | c.140A= (p.Gln47=) | |
| MT | m.8666A>C | CA414797281 | MT-ATP6 | c.140A>C (p.Gln47Pro) | |
| MT | m.8666A>G | CA414797282 | MT-ATP6 | c.140A>G (p.Gln47Arg) | ClinVar dbSNP |
| MT | m.8666A>T | CA414797278 | MT-ATP6 | c.140A>T (p.Gln47Leu) | |
| MT | m.8667A= | CA2499565852 | MT-ATP6 | c.141A= (p.Gln47=) | |
| MT | m.8667A>C | CA414797284 | MT-ATP6 | c.141A>C (p.Gln47His) | |
| MT | m.8667A>G | CA913179577 | MT-ATP6 | c.141A>G (p.Gln47=) | dbSNP |
| MT | m.8667A>T | CA414797283 | MT-ATP6 | c.141A>T (p.Gln47His) | |
| MT | m.8668T>A | CA414797287 | MT-ATP6 | c.142T>A (p.Ter48Arg) | |
| MT | m.8668T>C | CA414797290 | MT-ATP6 | c.142T>C (p.Ter48Arg) | ClinVar dbSNP |
| MT | m.8668T>G | CA414797292 | MT-ATP6 | c.142T>G (p.Ter48Gly) | |
| MT | m.8668T= | CA414797294 | MT-ATP6 | c.142T= (p.Ter48=) | |
| MT | m.8669G>A | CA414797297 | MT-ATP6 | c.143G>A (p.Ter48=) | |
| MT | m.8669G>C | CA414797300 | MT-ATP6 | c.143G>C (p.Ter48Ser) | ClinVar dbSNP |
| MT | m.8669G= | CA414797302 | MT-ATP6 | c.143G= (p.Ter48=) | |
| MT | m.8669G>T | CA414797304 | MT-ATP6 | c.143G>T (p.Ter48Leu) | |
| MT | m.8670A= | CA414797318 | MT-ATP6 | c.144A= (p.Ter48=) | |
| MT | m.8670A>C | CA414797315 | MT-ATP6 | c.144A>C (p.Ter48Cys) | |
| MT | m.8670A>G | CA414797312 | MT-ATP6 | c.144A>G (p.Ter48Trp) | dbSNP COSMIC COSMIC |
| MT | m.8670A>T | CA414797309 | MT-ATP6 | c.144A>T (p.Ter48Cys) | |
| MT | m.8671C>A | CA414797320 | MT-ATP6 | c.145C>A (p.Leu49Ile) | |
| MT | m.8671C= | CA2499565855 | MT-ATP6 | c.145C= (p.Leu49=) | |
| MT | m.8671C>G | CA414797323 | MT-ATP6 | c.145C>G (p.Leu49Val) | |
| MT | m.8671C>T | CA913179583 | MT-ATP6 | c.145C>T (p.Leu49=) | dbSNP |
| MT | m.8672T>A | CA414797327 | MT-ATP6 | c.146T>A (p.Leu49Gln) | |
| MT | m.8672T>C | CA414797329 | MT-ATP6 | c.146T>C (p.Leu49Pro) | |
| MT | m.8672T>G | CA414797334 | MT-ATP6 | c.146T>G (p.Leu49Arg) | |
| MT | m.8672T= | CA2573330001 | MT-ATP6 | c.146T= (p.Leu49=) | |
| MT | m.8673A= | CA2499565856 | MT-ATP6 | c.147A= (p.Leu49=) | |
| MT | m.8673A>C | CA913179588 | MT-ATP6 | c.147A>C (p.Leu49=) | |
| MT | m.8673A>G | CA913179586 | MT-ATP6 | c.147A>G (p.Leu49=) | dbSNP |
| MT | m.8673A>T | CA913179587 | MT-ATP6 | c.147A>T (p.Leu49=) | |
| MT | m.8674A= | CA2499565858 | MT-ATP6 | c.148A= (p.Ile50=) | |
| MT | m.8674A>C | CA414797337 | MT-ATP6 | c.148A>C (p.Ile50Leu) | |
| MT | m.8674A>G | CA414797340 | MT-ATP6 | c.148A>G (p.Ile50Val) | dbSNP |
| MT | m.8674A>T | CA414797344 | MT-ATP6 | c.148A>T (p.Ile50Phe) | |
| MT | m.8675T>A | CA414797347 | MT-ATP6 | c.149T>A (p.Ile50Asn) | |
| MT | m.8675T>C | CA414797348 | MT-ATP6 | c.149T>C (p.Ile50Thr) | |
| MT | m.8675T>G | CA414797352 | MT-ATP6 | c.149T>G (p.Ile50Ser) | |
| MT | m.8675T= | CA2513626745 | MT-ATP6 | c.149T= (p.Ile50=) | |
| MT | m.8676C>A | CA913179593 | MT-ATP6 | c.150C>A (p.Ile50=) | |
| MT | m.8676C= | CA2499565859 | MT-ATP6 | c.150C= (p.Ile50=) | |
| MT | m.8676C>G | CA414797356 | MT-ATP6 | c.150C>G (p.Ile50Met) | |
| MT | m.8676C>T | CA913179594 | MT-ATP6 | c.150C>T (p.Ile50=) | dbSNP |
| MT | m.8677A= | CA2573330007 | MT-ATP6 | c.151A= (p.Lys51=) | |
| MT | m.8677A>C | CA414797361 | MT-ATP6 | c.151A>C (p.Lys51Gln) | |
| MT | m.8677A>G | CA414797364 | MT-ATP6 | c.151A>G (p.Lys51Glu) | |
| MT | m.8677A>T | CA414797359 | MT-ATP6 | c.151A>T (p.Lys51Ter) | |
| MT | m.8678A= | CA2573330008 | MT-ATP6 | c.152A= (p.Lys51=) | |
| MT | m.8678A>C | CA414797368 | MT-ATP6 | c.152A>C (p.Lys51Thr) | |
| MT | m.8678A>G | CA414797378 | MT-ATP6 | c.152A>G (p.Lys51Arg) | |
| MT | m.8678A>T | CA414797381 | MT-ATP6 | c.152A>T (p.Lys51Ile) | |
| MT | m.8688_8778del | CA2573105022 | MT-ATP6 | c.162_252del (p.Lys55SerfsTer16) | |
| MT | m.8679A= | CA2499565861 | MT-ATP6 | c.153A= (p.Lys51=) | |
| MT | m.8679A>C | CA337097980 | MT-ATP6 | c.153A>C (p.Lys51Asn) | ClinVar dbSNP |
| MT | m.8679A>G | CA913179597 | MT-ATP6 | c.153A>G (p.Lys51=) | dbSNP |
| MT | m.8679A>T | CA337097982 | MT-ATP6 | c.153A>T (p.Lys51Asn) | |
| MT | m.8680C>A | CA414797384 | MT-ATP6 | c.154C>A (p.Leu52Ile) | |
| MT | m.8680C= | CA2573330012 | MT-ATP6 | c.154C= (p.Leu52=) | |
| MT | m.8680C>G | CA414797382 | MT-ATP6 | c.154C>G (p.Leu52Val) | |
| MT | m.8680C>T | CA913179598 | MT-ATP6 | c.154C>T (p.Leu52=) | |
| MT | m.8681T>A | CA414797389 | MT-ATP6 | c.155T>A (p.Leu52Gln) | |
| MT | m.8681T>C | CA414797390 | MT-ATP6 | c.155T>C (p.Leu52Pro) | ClinVar dbSNP |
| MT | m.8681T>G | CA414797392 | MT-ATP6 | c.155T>G (p.Leu52Arg) | dbSNP |
| MT | m.8681T= | CA2499565864 | MT-ATP6 | c.155T= (p.Leu52=) | |
| MT | m.8682A= | CA2499565866 | MT-ATP6 | c.156A= (p.Leu52=) | |
| MT | m.8682A>C | CA913179601 | MT-ATP6 | c.156A>C (p.Leu52=) | |
| MT | m.8682A>G | CA913179600 | MT-ATP6 | c.156A>G (p.Leu52=) | dbSNP |
| MT | m.8682A>T | CA913179599 | MT-ATP6 | c.156A>T (p.Leu52=) | |
| MT | m.8683A= | CA2499565868 | MT-ATP6 | c.157A= (p.Thr53=) | |
| MT | m.8683A>C | CA414797405 | MT-ATP6 | c.157A>C (p.Thr53Pro) | |
| MT | m.8683A>G | CA414797408 | MT-ATP6 | c.157A>G (p.Thr53Ala) | ClinVar dbSNP |
| MT | m.8683A>T | CA414797410 | MT-ATP6 | c.157A>T (p.Thr53Ser) | |
| MT | m.8684C>A | CA414797414 | MT-ATP6 | c.158C>A (p.Thr53Asn) | |
| MT | m.8684C= | CA2499565870 | MT-ATP6 | c.158C= (p.Thr53=) | |
| MT | m.8684C>G | CA414797419 | MT-ATP6 | c.158C>G (p.Thr53Ser) | |
| MT | m.8684C>T | CA337097986 | MT-ATP6 | c.158C>T (p.Thr53Ile) | ClinVar dbSNP |
| MT | m.8685C>A | CA913179605 | MT-ATP6 | c.159C>A (p.Thr53=) | |
| MT | m.8685C= | CA2573330017 | MT-ATP6 | c.159C= (p.Thr53=) | |
| MT | m.8685C>G | CA913179603 | MT-ATP6 | c.159C>G (p.Thr53=) | |
| MT | m.8685C>T | CA913179602 | MT-ATP6 | c.159C>T (p.Thr53=) | |
| MT | m.8686T>A | CA414797423 | MT-ATP6 | c.160T>A (p.Ser54Thr) | ClinVar dbSNP |
| MT | m.8686T>C | CA414797425 | MT-ATP6 | c.160T>C (p.Ser54Pro) | ClinVar dbSNP |
| MT | m.8686T>G | CA414797428 | MT-ATP6 | c.160T>G (p.Ser54Ala) | |
| MT | m.8686T= | CA2499565872 | MT-ATP6 | c.160T= (p.Ser54=) | |
| MT | m.8687C>A | CA414797433 | MT-ATP6 | c.161C>A (p.Ser54Ter) | |
| MT | m.8687C= | CA2499565880 | MT-ATP6 | c.161C= (p.Ser54=) | |
| MT | m.8687C>G | CA414797435 | MT-ATP6 | c.161C>G (p.Ser54Ter) | |
| MT | m.8687C>T | CA414797438 | MT-ATP6 | c.161C>T (p.Ser54Leu) | dbSNP |
| MT | m.8687_8688insT | CA2740098150 | MT-ATP6 | c.161_162insT (p.Gln56ThrfsTer9) | |
| MT | m.8688A= | CA2499565881 | MT-ATP6 | c.162A= (p.Ser54=) | |
| MT | m.8688A>C | CA913179615 | MT-ATP6 | c.162A>C (p.Ser54=) | dbSNP |
| MT | m.8688A>G | CA913179612 | MT-ATP6 | c.162A>G (p.Ser54=) | |
| MT | m.8688A>T | CA913179613 | MT-ATP6 | c.162A>T (p.Ser54=) | |
| MT | m.8689A= | CA2573330021 | MT-ATP6 | c.163A= (p.Lys55=) | |
| MT | m.8689A>C | CA414797443 | MT-ATP6 | c.163A>C (p.Lys55Gln) | |
| MT | m.8689A>G | CA414797445 | MT-ATP6 | c.163A>G (p.Lys55Glu) | |
| MT | m.8689A>T | CA414797446 | MT-ATP6 | c.163A>T (p.Lys55Ter) | |
| MT | m.8690A= | CA2573330023 | MT-ATP6 | c.164A= (p.Lys55=) | |
| MT | m.8690A>C | CA414797451 | MT-ATP6 | c.164A>C (p.Lys55Thr) | |
| MT | m.8690A>G | CA414797453 | MT-ATP6 | c.164A>G (p.Lys55Arg) | |
| MT | m.8690A>T | CA414797455 | MT-ATP6 | c.164A>T (p.Lys55Ile) | |
| MT | m.8691A= | CA2499565883 | MT-ATP6 | c.165A= (p.Lys55=) | |
| MT | m.8691A>C | CA414797459 | MT-ATP6 | c.165A>C (p.Lys55Asn) | |
| MT | m.8691A>G | CA913179621 | MT-ATP6 | c.165A>G (p.Lys55=) | dbSNP |
| MT | m.8691A>T | CA414797461 | MT-ATP6 | c.165A>T (p.Lys55Asn) | |
| MT | m.8692C>A | CA414797464 | MT-ATP6 | c.166C>A (p.Gln56Lys) | |
| MT | m.8692C= | CA2573330024 | MT-ATP6 | c.166C= (p.Gln56=) | |
| MT | m.8692C>G | CA414797469 | MT-ATP6 | c.166C>G (p.Gln56Glu) | |
| MT | m.8692C>T | CA414797466 | MT-ATP6 | c.166C>T (p.Gln56Ter) | |
| MT | m.8693A= | CA2573330025 | MT-ATP6 | c.167A= (p.Gln56=) | |
| MT | m.8693A>C | CA414797473 | MT-ATP6 | c.167A>C (p.Gln56Pro) | |
| MT | m.8693A>G | CA414797477 | MT-ATP6 | c.167A>G (p.Gln56Arg) | |
| MT | m.8693A>T | CA414797474 | MT-ATP6 | c.167A>T (p.Gln56Leu) | |
| MT | m.8694A= | CA2499565884 | MT-ATP6 | c.168A= (p.Gln56=) | |
| MT | m.8694A>C | CA414797480 | MT-ATP6 | c.168A>C (p.Gln56His) | |
| MT | m.8694A>G | CA913179623 | MT-ATP6 | c.168A>G (p.Gln56=) | dbSNP |
| MT | m.8694A>T | CA414797482 | MT-ATP6 | c.168A>T (p.Gln56His) | dbSNP |
| MT | m.8695A= | CA2573330026 | MT-ATP6 | c.169A= (p.Met57=) | |
| MT | m.8695A>C | CA414797486 | MT-ATP6 | c.169A>C (p.Met57Leu) | |
| MT | m.8695A>G | CA414797488 | MT-ATP6 | c.169A>G (p.Met57Val) | |
| MT | m.8695A>T | CA414797490 | MT-ATP6 | c.169A>T (p.Met57Leu) | |
| MT | m.8696T>A | CA414797492 | MT-ATP6 | c.170T>A (p.Met57Lys) | |
| MT | m.8696T>C | CA414797493 | MT-ATP6 | c.170T>C (p.Met57Thr) | dbSNP |
| MT | m.8696T>G | CA414797494 | MT-ATP6 | c.170T>G (p.Met57Arg) | |
| MT | m.8696T= | CA2499565886 | MT-ATP6 | c.170T= (p.Met57=) | |
| MT | m.8697G>A | CA337097989 | MT-ATP6 | c.171G>A (p.Met57Ile) | dbSNP |
| MT | m.8697G>C | CA414797499 | MT-ATP6 | c.171G>C (p.Met57Ile) | |
| MT | m.8697G= | CA2499565888 | MT-ATP6 | c.171G= (p.Met57=) | |
| MT | m.8697G>T | CA414797501 | MT-ATP6 | c.171G>T (p.Met57Ile) | ClinVar dbSNP |
| MT | m.8698A= | CA2573330027 | MT-ATP6 | c.172A= (p.Ile58=) | |
| MT | m.8698A>C | CA414797509 | MT-ATP6 | c.172A>C (p.Ile58Leu) | |
| MT | m.8698A>G | CA414797507 | MT-ATP6 | c.172A>G (p.Ile58Val) | dbSNP |
| MT | m.8698A>T | CA414797504 | MT-ATP6 | c.172A>T (p.Ile58Leu) | |
| MT | m.8699T>A | CA414797513 | MT-ATP6 | c.173T>A (p.Ile58Lys) | |
| MT | m.8699T>C | CA414797515 | MT-ATP6 | c.173T>C (p.Ile58Thr) | ClinVar dbSNP |
| MT | m.8699T>G | CA414797518 | MT-ATP6 | c.173T>G (p.Ile58Arg) | |
| MT | m.8699T= | CA2499565890 | MT-ATP6 | c.173T= (p.Ile58=) | |
| MT | m.8700A= | CA2499565892 | MT-ATP6 | c.174A= (p.Ile58=) | |
| MT | m.8700A>C | CA913179640 | MT-ATP6 | c.174A>C (p.Ile58=) | |
| MT | m.8700A>G | CA414797522 | MT-ATP6 | c.174A>G (p.Ile58Met) | dbSNP |
| MT | m.8700A>T | CA913179638 | MT-ATP6 | c.174A>T (p.Ile58=) | ClinVar dbSNP |
| MT | m.8701A= | CA2499565785 | MT-ATP6 | c.175A= (p.Thr59=) | |
| MT | m.8701A>C | CA414797525 | MT-ATP6 | c.175A>C (p.Thr59Pro) | dbSNP |
| MT | m.8701A>G | CA337097991 | MT-ATP6 | c.175A>G (p.Thr59Ala) | ClinVar dbSNP |
| MT | m.8701A>T | CA414797530 | MT-ATP6 | c.175A>T (p.Thr59Ser) | |
| MT | m.8702C>A | CA414797534 | MT-ATP6 | c.176C>A (p.Thr59Asn) | |
| MT | m.8702C= | CA2499565787 | MT-ATP6 | c.176C= (p.Thr59=) | |
| MT | m.8702C>G | CA414797537 | MT-ATP6 | c.176C>G (p.Thr59Ser) | |
| MT | m.8702C>T | CA414797539 | MT-ATP6 | c.176C>T (p.Thr59Ile) | ClinVar dbSNP |
| MT | m.8703C>A | CA913179650 | MT-ATP6 | c.177C>A (p.Thr59=) | |
| MT | m.8703C= | CA2499565788 | MT-ATP6 | c.177C= (p.Thr59=) | |
| MT | m.8703C>G | CA913179649 | MT-ATP6 | c.177C>G (p.Thr59=) | |
| MT | m.8703C>T | CA913179648 | MT-ATP6 | c.177C>T (p.Thr59=) | dbSNP |
| MT | m.8704A= | CA2499565789 | MT-ATP6 | c.178A= (p.Ile60=) | |
| MT | m.8704A>C | CA414797546 | MT-ATP6 | c.178A>C (p.Ile60Leu) | |
| MT | m.8704A>G | CA10581258 | MT-ATP6 | c.178A>G (p.Ile60Val) | ClinVar dbSNP |
| MT | m.8704A>T | CA414797543 | MT-ATP6 | c.178A>T (p.Ile60Leu) | |
| MT | m.8705T>A | CA414797551 | MT-ATP6 | c.179T>A (p.Ile60Lys) | |
| MT | m.8705T>C | CA337097996 | MT-ATP6 | c.179T>C (p.Ile60Thr) | ClinVar dbSNP |
| MT | m.8705T>G | CA414797555 | MT-ATP6 | c.179T>G (p.Ile60Arg) | |
| MT | m.8705T= | CA2499565791 | MT-ATP6 | c.179T= (p.Ile60=) | |
| MT | m.8705_8706insTTAAGGA | CA2740098151 | MT-ATP6 | c.179_180insTTAAGGA (p.His61Ter) | |
| MT | m.8706A= | CA2499565793 | MT-ATP6 | c.180A= (p.Ile60=) | |
| MT | m.8706A>C | CA913179656 | MT-ATP6 | c.180A>C (p.Ile60=) | |
| MT | m.8706A>G | CA414797558 | MT-ATP6 | c.180A>G (p.Ile60Met) | dbSNP |
| MT | m.8706A>T | CA913179658 | MT-ATP6 | c.180A>T (p.Ile60=) | |
| MT | m.8707C>A | CA414797561 | MT-ATP6 | c.181C>A (p.His61Asn) | |
| MT | m.8707C= | CA2573330042 | MT-ATP6 | c.181C= (p.His61=) | |
| MT | m.8707C>G | CA414797563 | MT-ATP6 | c.181C>G (p.His61Asp) | |
| MT | m.8707C>T | CA414797566 | MT-ATP6 | c.181C>T (p.His61Tyr) | |
| MT | m.8707_8708insTAG | CA2740098152 | MT-ATP6 | c.181_182insTAG (p.His61delinsLeuAsp) | |
| MT | m.8708A= | CA2573330044 | MT-ATP6 | c.182A= (p.His61=) | |
| MT | m.8708A>C | CA414797568 | MT-ATP6 | c.182A>C (p.His61Pro) | |
| MT | m.8708A>G | CA414797570 | MT-ATP6 | c.182A>G (p.His61Arg) | |
| MT | m.8708A>T | CA414797572 | MT-ATP6 | c.182A>T (p.His61Leu) | |
| MT | m.8709C>A | CA414797576 | MT-ATP6 | c.183C>A (p.His61Gln) | |
| MT | m.8709C= | CA2499565794 | MT-ATP6 | c.183C= (p.His61=) | |
| MT | m.8709C>G | CA414797579 | MT-ATP6 | c.183C>G (p.His61Gln) | |
| MT | m.8709C>T | CA913179662 | MT-ATP6 | c.183C>T (p.His61=) | dbSNP |
| MT | m.8710A= | CA2573330046 | MT-ATP6 | c.184A= (p.Asn62=) | |
| MT | m.8710A>C | CA414797583 | MT-ATP6 | c.184A>C (p.Asn62His) | |
| MT | m.8710A>G | CA414797585 | MT-ATP6 | c.184A>G (p.Asn62Asp) | |
| MT | m.8710A>T | CA414797584 | MT-ATP6 | c.184A>T (p.Asn62Tyr) | |
| MT | m.8711A= | CA2499565796 | MT-ATP6 | c.185A= (p.Asn62=) | |
| MT | m.8711A>C | CA414797588 | MT-ATP6 | c.185A>C (p.Asn62Thr) | |
| MT | m.8711A>G | CA414797591 | MT-ATP6 | c.185A>G (p.Asn62Ser) | ClinVar dbSNP |
| MT | m.8711A>T | CA414797592 | MT-ATP6 | c.185A>T (p.Asn62Ile) | |
| MT | m.8712C>A | CA414797595 | MT-ATP6 | c.186C>A (p.Asn62Lys) | |
| MT | m.8712C= | CA2573330047 | MT-ATP6 | c.186C= (p.Asn62=) | |
| MT | m.8712C>G | CA414797598 | MT-ATP6 | c.186C>G (p.Asn62Lys) | |
| MT | m.8712C>T | CA913179667 | MT-ATP6 | c.186C>T (p.Asn62=) | |
| MT | m.8713A= | CA2499565797 | MT-ATP6 | c.187A= (p.Thr63=) | |
| MT | m.8713A>C | CA414797602 | MT-ATP6 | c.187A>C (p.Thr63Pro) | |
| MT | m.8713A>G | CA414797603 | MT-ATP6 | c.187A>G (p.Thr63Ala) | ClinVar dbSNP |
| MT | m.8713A>T | CA414797608 | MT-ATP6 | c.187A>T (p.Thr63Ser) | |
| MT | m.8714C>A | CA414797611 | MT-ATP6 | c.188C>A (p.Thr63Asn) | |
| MT | m.8714C= | CA2499565799 | MT-ATP6 | c.188C= (p.Thr63=) | |
| MT | m.8714C>G | CA414797614 | MT-ATP6 | c.188C>G (p.Thr63Ser) | |
| MT | m.8714C>T | CA414797617 | MT-ATP6 | c.188C>T (p.Thr63Ile) | ClinVar dbSNP |
| MT | m.8715T>A | CA913179678 | MT-ATP6 | c.189T>A (p.Thr63=) | |
| MT | m.8715T>C | CA913179677 | MT-ATP6 | c.189T>C (p.Thr63=) | dbSNP |
| MT | m.8715T>G | CA913179674 | MT-ATP6 | c.189T>G (p.Thr63=) | |
| MT | m.8715T= | CA2499565801 | MT-ATP6 | c.189T= (p.Thr63=) | |
| MT | m.8716A= | CA2573330051 | MT-ATP6 | c.190A= (p.Lys64=) | |
| MT | m.8716A>C | CA414797626 | MT-ATP6 | c.190A>C (p.Lys64Gln) | |
| MT | m.8716A>G | CA414797623 | MT-ATP6 | c.190A>G (p.Lys64Glu) | |
| MT | m.8716A>T | CA414797620 | MT-ATP6 | c.190A>T (p.Lys64Ter) | |
| MT | m.8718del | CA2573104890 | MT-ATP6 | c.192del (p.Gly65AspfsTer8) | |
| MT | m.8717A= | CA2573330052 | MT-ATP6 | c.191A= (p.Lys64=) | |
| MT | m.8717A>C | CA414797632 | MT-ATP6 | c.191A>C (p.Lys64Thr) | |
| MT | m.8717A>G | CA414797629 | MT-ATP6 | c.191A>G (p.Lys64Arg) | |
| MT | m.8717A>T | CA414797633 | MT-ATP6 | c.191A>T (p.Lys64Ile) | |
| MT | m.8718A= | CA2499565803 | MT-ATP6 | c.192A= (p.Lys64=) | |
| MT | m.8718A>C | CA414797637 | MT-ATP6 | c.192A>C (p.Lys64Asn) | |
| MT | m.8718A>G | CA913179681 | MT-ATP6 | c.192A>G (p.Lys64=) | dbSNP |
| MT | m.8718A>T | CA414797639 | MT-ATP6 | c.192A>T (p.Lys64Asn) | |
| MT | m.8719G>A | CA337098000 | MT-ATP6 | c.193G>A (p.Gly65Arg) | ClinVar dbSNP |
| MT | m.8719G>C | CA414797644 | MT-ATP6 | c.193G>C (p.Gly65Arg) | |
| MT | m.8719G= | CA2499565805 | MT-ATP6 | c.193G= (p.Gly65=) | |
| MT | m.8719G>T | CA414797647 | MT-ATP6 | c.193G>T (p.Gly65Ter) | |
| MT | m.8720G>A | CA414797652 | MT-ATP6 | c.194G>A (p.Gly65Glu) | ClinVar dbSNP |
| MT | m.8720G>C | CA414797654 | MT-ATP6 | c.194G>C (p.Gly65Ala) | ClinVar dbSNP |
| MT | m.8720G= | CA2499565809 | MT-ATP6 | c.194G= (p.Gly65=) | |
| MT | m.8720G>T | CA414797656 | MT-ATP6 | c.194G>T (p.Gly65Val) | |
| MT | m.8721A= | CA2499565811 | MT-ATP6 | c.195A= (p.Gly65=) | |
| MT | m.8721A>C | CA913179688 | MT-ATP6 | c.195A>C (p.Gly65=) | |
| MT | m.8721A>G | CA913179690 | MT-ATP6 | c.195A>G (p.Gly65=) | dbSNP |
| MT | m.8721A>T | CA913179687 | MT-ATP6 | c.195A>T (p.Gly65=) | |
| MT | m.8722C>A | CA913179693 | MT-ATP6 | c.196C>A (p.Arg66=) | |
| MT | m.8722C= | CA2499565813 | MT-ATP6 | c.196C= (p.Arg66=) | |
| MT | m.8722C>G | CA414797659 | MT-ATP6 | c.196C>G (p.Arg66Gly) | |
| MT | m.8722C>T | CA414797660 | MT-ATP6 | c.196C>T (p.Arg66Ter) | ClinVar dbSNP |
| MT | m.8723G>A | CA414797669 | MT-ATP6 | c.197G>A (p.Arg66Gln) | ClinVar dbSNP |
| MT | m.8723G>C | CA414797667 | MT-ATP6 | c.197G>C (p.Arg66Pro) | |
| MT | m.8723G= | CA2499565815 | MT-ATP6 | c.197G= (p.Arg66=) | |
| MT | m.8723G>T | CA414797665 | MT-ATP6 | c.197G>T (p.Arg66Leu) | ClinVar |
| MT | m.8724A= | CA2573330059 | MT-ATP6 | c.198A= (p.Arg66=) | |
| MT | m.8724A>C | CA913179694 | MT-ATP6 | c.198A>C (p.Arg66=) | |
| MT | m.8724A>G | CA913179695 | MT-ATP6 | c.198A>G (p.Arg66=) | dbSNP |
| MT | m.8724A>T | CA913179696 | MT-ATP6 | c.198A>T (p.Arg66=) | |
| MT | m.8725A= | CA2499565817 | MT-ATP6 | c.199A= (p.Thr67=) | |
| MT | m.8725A>C | CA414797674 | MT-ATP6 | c.199A>C (p.Thr67Pro) | |
| MT | m.8725A>G | CA337098004 | MT-ATP6 | c.199A>G (p.Thr67Ala) | ClinVar dbSNP |
| MT | m.8725A>T | CA414797677 | MT-ATP6 | c.199A>T (p.Thr67Ser) | |
| MT | m.8726C>A | CA414797681 | MT-ATP6 | c.200C>A (p.Thr67Asn) | |
| MT | m.8726C= | CA2573330061 | MT-ATP6 | c.200C= (p.Thr67=) | |
| MT | m.8726C>G | CA414797683 | MT-ATP6 | c.200C>G (p.Thr67Ser) | |
| MT | m.8726C>T | CA414797686 | MT-ATP6 | c.200C>T (p.Thr67Ile) | |
| MT | m.8727C>A | CA913179702 | MT-ATP6 | c.201C>A (p.Thr67=) | dbSNP |
| MT | m.8727C= | CA2499565820 | MT-ATP6 | c.201C= (p.Thr67=) | |
| MT | m.8727C>G | CA913179701 | MT-ATP6 | c.201C>G (p.Thr67=) | |
| MT | m.8727C>T | CA913179704 | MT-ATP6 | c.201C>T (p.Thr67=) | dbSNP |
| MT | m.8728T>A | CA414797690 | MT-ATP6 | c.202T>A (p.Ter68Arg) | |
| MT | m.8728T>C | CA414797692 | MT-ATP6 | c.202T>C (p.Ter68Arg) | ClinVar dbSNP |
| MT | m.8728T>G | CA414797696 | MT-ATP6 | c.202T>G (p.Ter68Gly) | |
| MT | m.8728T= | CA414797698 | MT-ATP6 | c.202T= (p.Ter68=) | |
| MT | m.8729G>A | CA414797708 | MT-ATP6 | c.203G>A (p.Ter68=) | dbSNP |
| MT | m.8729G>C | CA414797711 | MT-ATP6 | c.203G>C (p.Ter68Ser) | |
| MT | m.8729G= | CA414797705 | MT-ATP6 | c.203G= (p.Ter68=) | |
| MT | m.8729G>T | CA414797702 | MT-ATP6 | c.203G>T (p.Ter68Leu) | |
| MT | m.8730A= | CA414797714 | MT-ATP6 | c.204A= (p.Ter68=) | |
| MT | m.8730A>C | CA414797716 | MT-ATP6 | c.204A>C (p.Ter68Cys) | |
| MT | m.8730A>G | CA337098007 | MT-ATP6 | c.204A>G (p.Ter68Trp) | dbSNP |
| MT | m.8730A>T | CA414797720 | MT-ATP6 | c.204A>T (p.Ter68Cys) | |
| MT | m.8731T>A | CA414797723 | MT-ATP6 | c.205T>A (p.Ser69Thr) | ClinVar dbSNP |
| MT | m.8731T>C | CA414797725 | MT-ATP6 | c.205T>C (p.Ser69Pro) | |
| MT | m.8731T>G | CA414797729 | MT-ATP6 | c.205T>G (p.Ser69Ala) | |
| MT | m.8731T= | CA2499565825 | MT-ATP6 | c.205T= (p.Ser69=) | |
| MT | m.8732C>A | CA414797733 | MT-ATP6 | c.206C>A (p.Ser69Tyr) | |
| MT | m.8732C= | CA2573330067 | MT-ATP6 | c.206C= (p.Ser69=) | |
| MT | m.8732C>G | CA414797736 | MT-ATP6 | c.206C>G (p.Ser69Cys) | |
| MT | m.8732C>T | CA414797737 | MT-ATP6 | c.206C>T (p.Ser69Phe) | |
| MT | m.8733T>A | CA913179727 | MT-ATP6 | c.207T>A (p.Ser69=) | |
| MT | m.8733T>C | CA913179731 | MT-ATP6 | c.207T>C (p.Ser69=) | dbSNP |
| MT | m.8733T>G | CA913179721 | MT-ATP6 | c.207T>G (p.Ser69=) | |
| MT | m.8733T= | CA2499565827 | MT-ATP6 | c.207T= (p.Ser69=) | |
| MT | m.8734C>A | CA337098010 | MT-ATP6 | c.208C>A (p.Leu70Ile) | dbSNP |
| MT | m.8734C= | CA2499565829 | MT-ATP6 | c.208C= (p.Leu70=) | |
| MT | m.8734C>G | CA414797741 | MT-ATP6 | c.208C>G (p.Leu70Val) | |
| MT | m.8734C>T | CA414797740 | MT-ATP6 | c.208C>T (p.Leu70Phe) | |
| MT | m.8735T>A | CA414797748 | MT-ATP6 | c.209T>A (p.Leu70His) | |
| MT | m.8735T>C | CA414797750 | MT-ATP6 | c.209T>C (p.Leu70Pro) | ClinVar dbSNP |
| MT | m.8735T>G | CA414797752 | MT-ATP6 | c.209T>G (p.Leu70Arg) | |
| MT | m.8735T= | CA2499565831 | MT-ATP6 | c.209T= (p.Leu70=) | |
| MT | m.8736T>A | CA913179736 | MT-ATP6 | c.210T>A (p.Leu70=) | |
| MT | m.8736T>C | CA337098012 | MT-ATP6 | c.210T>C (p.Leu70=) | dbSNP |
| MT | m.8736T>G | CA913179737 | MT-ATP6 | c.210T>G (p.Leu70=) | |
| MT | m.8736T= | CA2499565833 | MT-ATP6 | c.210T= (p.Leu70=) | |
| MT | m.8737A= | CA2499565835 | MT-ATP6 | c.211A= (p.Ile71=) | |
| MT | m.8737A>C | CA414797758 | MT-ATP6 | c.211A>C (p.Ile71Leu) | |
| MT | m.8737A>G | CA414797761 | MT-ATP6 | c.211A>G (p.Ile71Val) | ClinVar dbSNP |
| MT | m.8737A>T | CA414797764 | MT-ATP6 | c.211A>T (p.Ile71Leu) | |
| MT | m.8738T>A | CA414797767 | MT-ATP6 | c.212T>A (p.Ile71Lys) | |
| MT | m.8738T>C | CA414797768 | MT-ATP6 | c.212T>C (p.Ile71Thr) | |
| MT | m.8738T>G | CA414797771 | MT-ATP6 | c.212T>G (p.Ile71Arg) | |
| MT | m.8738T= | CA2573330078 | MT-ATP6 | c.212T= (p.Ile71=) | |
| MT | m.8739A= | CA2499565837 | MT-ATP6 | c.213A= (p.Ile71=) | |
| MT | m.8739A>C | CA913179754 | MT-ATP6 | c.213A>C (p.Ile71=) | |
| MT | m.8739A>G | CA414797775 | MT-ATP6 | c.213A>G (p.Ile71Met) | dbSNP |
| MT | m.8739A>T | CA913179751 | MT-ATP6 | c.213A>T (p.Ile71=) | |
| MT | m.8740C>A | CA414797778 | MT-ATP6 | c.214C>A (p.Leu72Ile) | |
| MT | m.8740C= | CA2499565839 | MT-ATP6 | c.214C= (p.Leu72=) | |
| MT | m.8740C>G | CA414797780 | MT-ATP6 | c.214C>G (p.Leu72Val) | |
| MT | m.8740C>T | CA913179756 | MT-ATP6 | c.214C>T (p.Leu72=) | dbSNP |
| MT | m.8741T>A | CA414797785 | MT-ATP6 | c.215T>A (p.Leu72Gln) | |
| MT | m.8741T>C | CA414797788 | MT-ATP6 | c.215T>C (p.Leu72Pro) | |
| MT | m.8741T>G | CA414797783 | MT-ATP6 | c.215T>G (p.Leu72Arg) | |
| MT | m.8741T= | CA2573330080 | MT-ATP6 | c.215T= (p.Leu72=) | |
| MT | m.8742A= | CA2499565841 | MT-ATP6 | c.216A= (p.Leu72=) | |
| MT | m.8742A>C | CA913179774 | MT-ATP6 | c.216A>C (p.Leu72=) | |
| MT | m.8742A>G | CA913179769 | MT-ATP6 | c.216A>G (p.Leu72=) | dbSNP |
| MT | m.8742A>T | CA913179767 | MT-ATP6 | c.216A>T (p.Leu72=) | |
| MT | m.8743G>A | CA414797790 | MT-ATP6 | c.217G>A (p.Val73Ile) | dbSNP |
| MT | m.8743G>C | CA337098015 | MT-ATP6 | c.217G>C (p.Val73Leu) | dbSNP |
| MT | m.8743G= | CA2499565843 | MT-ATP6 | c.217G= (p.Val73=) | |
| MT | m.8743G>T | CA414797792 | MT-ATP6 | c.217G>T (p.Val73Leu) | |
| MT | m.8744T>A | CA414797798 | MT-ATP6 | c.218T>A (p.Val73Glu) | |
| MT | m.8744T>C | CA414797803 | MT-ATP6 | c.218T>C (p.Val73Ala) | ClinVar dbSNP |
| MT | m.8744T>G | CA414797800 | MT-ATP6 | c.218T>G (p.Val73Gly) | |
| MT | m.8744T= | CA2499565845 | MT-ATP6 | c.218T= (p.Val73=) | |
| MT | m.8745A= | CA2499565847 | MT-ATP6 | c.219A= (p.Val73=) | |
| MT | m.8745A>C | CA913179792 | MT-ATP6 | c.219A>C (p.Val73=) | |
| MT | m.8745A>G | CA913179789 | MT-ATP6 | c.219A>G (p.Val73=) | dbSNP |
| MT | m.8745A>T | CA913179785 | MT-ATP6 | c.219A>T (p.Val73=) | |
| MT | m.8746T>A | CA414797806 | MT-ATP6 | c.220T>A (p.Ser74Thr) | |
| MT | m.8746T>C | CA414797810 | MT-ATP6 | c.220T>C (p.Ser74Pro) | ClinVar dbSNP |
| MT | m.8746T>G | CA414797812 | MT-ATP6 | c.220T>G (p.Ser74Ala) | |
| MT | m.8746T= | CA2499565850 | MT-ATP6 | c.220T= (p.Ser74=) | |
| MT | m.8747C>A | CA414797815 | MT-ATP6 | c.221C>A (p.Ser74Tyr) | |
| MT | m.8747C= | CA2573330084 | MT-ATP6 | c.221C= (p.Ser74=) | |
| MT | m.8747C>G | CA414797818 | MT-ATP6 | c.221C>G (p.Ser74Cys) | |
| MT | m.8747C>T | CA414797821 | MT-ATP6 | c.221C>T (p.Ser74Phe) | |
| MT | m.8748C>A | CA913179814 | MT-ATP6 | c.222C>A (p.Ser74=) | |
| MT | m.8748C= | CA2499565851 | MT-ATP6 | c.222C= (p.Ser74=) | |
| MT | m.8748C>G | CA913179813 | MT-ATP6 | c.222C>G (p.Ser74=) | |
| MT | m.8748C>T | CA913179812 | MT-ATP6 | c.222C>T (p.Ser74=) | dbSNP |
| MT | m.8749T>A | CA414797823 | MT-ATP6 | c.223T>A (p.Leu75Ile) | |
| MT | m.8749T>C | CA913179827 | MT-ATP6 | c.223T>C (p.Leu75=) | dbSNP |
| MT | m.8749T>G | CA414797825 | MT-ATP6 | c.223T>G (p.Leu75Val) | |
| MT | m.8749T= | CA2499565853 | MT-ATP6 | c.223T= (p.Leu75=) | |
| MT | m.8750T>A | CA414797834 | MT-ATP6 | c.224T>A (p.Leu75Ter) | |
| MT | m.8750T>C | CA414797832 | MT-ATP6 | c.224T>C (p.Leu75Ser) | ClinVar dbSNP |
| MT | m.8750T>G | CA414797829 | MT-ATP6 | c.224T>G (p.Leu75Ter) | |
| MT | m.8750T= | CA2499565854 | MT-ATP6 | c.224T= (p.Leu75=) | |
| MT | m.8751A= | CA2499565857 | MT-ATP6 | c.225A= (p.Leu75=) | |
| MT | m.8751A>C | CA414797838 | MT-ATP6 | c.225A>C (p.Leu75Phe) | |
| MT | m.8751A>G | CA913179834 | MT-ATP6 | c.225A>G (p.Leu75=) | dbSNP |
| MT | m.8751A>T | CA414797841 | MT-ATP6 | c.225A>T (p.Leu75Phe) | |
| MT | m.8752_8753insAAA | CA913190827 | MT-ATP6 | c.226_227insAAA (p.Leu75_Ile76insLys) | ClinVar dbSNP |
| MT | m.8752A= | CA2499565860 | MT-ATP6 | c.226A= (p.Ile76=) | |
| MT | m.8752A>C | CA414797844 | MT-ATP6 | c.226A>C (p.Ile76Leu) | |
| MT | m.8752A>G | CA414797849 | MT-ATP6 | c.226A>G (p.Ile76Val) | ClinVar dbSNP |
| MT | m.8752A>T | CA414797851 | MT-ATP6 | c.226A>T (p.Ile76Phe) | |
| MT | m.8753T>A | CA414797855 | MT-ATP6 | c.227T>A (p.Ile76Asn) | |
| MT | m.8753T>C | CA414797857 | MT-ATP6 | c.227T>C (p.Ile76Thr) | dbSNP |
| MT | m.8753T>G | CA414797859 | MT-ATP6 | c.227T>G (p.Ile76Ser) | |
| MT | m.8753T= | CA2513692153 | MT-ATP6 | c.227T= (p.Ile76=) | |
| MT | m.8754C>A | CA913179850 | MT-ATP6 | c.228C>A (p.Ile76=) | |
| MT | m.8754C= | CA2499565862 | MT-ATP6 | c.228C= (p.Ile76=) | |
| MT | m.8754C>G | CA414797863 | MT-ATP6 | c.228C>G (p.Ile76Met) | |
| MT | m.8754C>T | CA913179849 | MT-ATP6 | c.228C>T (p.Ile76=) | dbSNP |
| MT | m.8755A= | CA2573330092 | MT-ATP6 | c.229A= (p.Ile77=) | |
| MT | m.8755A>C | CA414797871 | MT-ATP6 | c.229A>C (p.Ile77Leu) | |
| MT | m.8755A>G | CA414797873 | MT-ATP6 | c.229A>G (p.Ile77Val) | |
| MT | m.8755A>T | CA414797868 | MT-ATP6 | c.229A>T (p.Ile77Phe) | |
| MT | m.8756T>A | CA414797878 | MT-ATP6 | c.230T>A (p.Ile77Asn) | |
| MT | m.8756T>C | CA414797880 | MT-ATP6 | c.230T>C (p.Ile77Thr) | ClinVar dbSNP |
| MT | m.8756T>G | CA414797882 | MT-ATP6 | c.230T>G (p.Ile77Ser) | |
| MT | m.8756T= | CA2499565863 | MT-ATP6 | c.230T= (p.Ile77=) |