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.7318T>A | CA414792365 | MT-CO1 | c.1415T>A (p.Ile472Asn) | |
| MT | m.7318T>C | CA414792366 | MT-CO1 | c.1415T>C (p.Ile472Thr) | |
| MT | m.7318T>G | CA414792368 | MT-CO1 | c.1415T>G (p.Ile472Ser) | |
| MT | m.7318T= | CA2573327127 | MT-CO1 | c.1415T= (p.Ile472=) | |
| MT | m.7319T>A | CA913176926 | MT-CO1 | c.1416T>A (p.Ile472=) | |
| MT | m.7319T>C | CA913176927 | MT-CO1 | c.1416T>C (p.Ile472=) | dbSNP |
| MT | m.7319T>G | CA414792371 | MT-CO1 | c.1416T>G (p.Ile472Met) | |
| MT | m.7319T= | CA2499565119 | MT-CO1 | c.1416T= (p.Ile472=) | |
| MT | m.7320T>A | CA414792372 | MT-CO1 | c.1417T>A (p.Ter473Arg) | |
| MT | m.7320T>C | CA414792374 | MT-CO1 | c.1417T>C (p.Ter473Arg) | |
| MT | m.7320T>G | CA414792376 | MT-CO1 | c.1417T>G (p.Ter473Gly) | |
| MT | m.7320T= | CA414792378 | MT-CO1 | c.1417T= (p.Ter473=) | |
| MT | m.7321G>A | CA414792386 | MT-CO1 | c.1418G>A (p.Ter473=) | |
| MT | m.7321G>C | CA414792381 | MT-CO1 | c.1418G>C (p.Ter473Ser) | |
| MT | m.7321G= | CA414792384 | MT-CO1 | c.1418G= (p.Ter473=) | |
| MT | m.7321G>T | CA414792383 | MT-CO1 | c.1418G>T (p.Ter473Leu) | |
| MT | m.7321_7322insT | CA2573104841 | MT-CO1 | c.1418_1419insT (p.Ter473CysextTer?) | |
| MT | m.7322A= | CA414792390 | MT-CO1 | c.1419A= (p.Ter473=) | |
| MT | m.7322A>C | CA414792389 | MT-CO1 | c.1419A>C (p.Ter473Cys) | |
| MT | m.7322A>G | CA414792394 | MT-CO1 | c.1419A>G (p.Ter473Trp) | |
| MT | m.7322A>T | CA414792392 | MT-CO1 | c.1419A>T (p.Ter473Cys) | |
| MT | m.7323G>A | CA414792396 | MT-CO1 | c.1420G>A (p.Glu474Lys) | |
| MT | m.7323G>C | CA414792398 | MT-CO1 | c.1420G>C (p.Glu474Gln) | |
| MT | m.7323G= | CA2573327140 | MT-CO1 | c.1420G= (p.Glu474=) | |
| MT | m.7323G>T | CA414792397 | MT-CO1 | c.1420G>T (p.Glu474Ter) | |
| MT | m.7324A= | CA2573327143 | MT-CO1 | c.1421A= (p.Glu474=) | |
| MT | m.7324A>C | CA414792401 | MT-CO1 | c.1421A>C (p.Glu474Ala) | |
| MT | m.7324A>G | CA414792403 | MT-CO1 | c.1421A>G (p.Glu474Gly) | |
| MT | m.7324A>T | CA414792404 | MT-CO1 | c.1421A>T (p.Glu474Val) | |
| MT | m.7325A= | CA2499565120 | MT-CO1 | c.1422A= (p.Glu474=) | |
| MT | m.7325A>C | CA414792407 | MT-CO1 | c.1422A>C (p.Glu474Asp) | |
| MT | m.7325A>G | CA913176932 | MT-CO1 | c.1422A>G (p.Glu474=) | dbSNP |
| MT | m.7325A>T | CA414792409 | MT-CO1 | c.1422A>T (p.Glu474Asp) | |
| MT | m.7326G>A | CA414792411 | MT-CO1 | c.1423G>A (p.Ala475Thr) | |
| MT | m.7326G>C | CA414792413 | MT-CO1 | c.1423G>C (p.Ala475Pro) | |
| MT | m.7326G= | CA2573327145 | MT-CO1 | c.1423G= (p.Ala475=) | |
| MT | m.7326G>T | CA414792415 | MT-CO1 | c.1423G>T (p.Ala475Ser) | |
| MT | m.7327C>A | CA414792417 | MT-CO1 | c.1424C>A (p.Ala475Asp) | |
| MT | m.7327C= | CA2573327147 | MT-CO1 | c.1424C= (p.Ala475=) | |
| MT | m.7327C>G | CA414792419 | MT-CO1 | c.1424C>G (p.Ala475Gly) | |
| MT | m.7327C>T | CA414792421 | MT-CO1 | c.1424C>T (p.Ala475Val) | |
| MT | m.7328C>A | CA913176933 | MT-CO1 | c.1425C>A (p.Ala475=) | |
| MT | m.7328C= | CA2573327150 | MT-CO1 | c.1425C= (p.Ala475=) | |
| MT | m.7328C>G | CA913176934 | MT-CO1 | c.1425C>G (p.Ala475=) | |
| MT | m.7328C>T | CA913176935 | MT-CO1 | c.1425C>T (p.Ala475=) | |
| MT | m.7329T>A | CA414792423 | MT-CO1 | c.1426T>A (p.Phe476Ile) | |
| MT | m.7329T>C | CA414792427 | MT-CO1 | c.1426T>C (p.Phe476Leu) | dbSNP |
| MT | m.7329T>G | CA414792425 | MT-CO1 | c.1426T>G (p.Phe476Val) | |
| MT | m.7329T= | CA2499565121 | MT-CO1 | c.1426T= (p.Phe476=) | |
| MT | m.7330T>A | CA414792429 | MT-CO1 | c.1427T>A (p.Phe476Tyr) | |
| MT | m.7330T>C | CA414792431 | MT-CO1 | c.1427T>C (p.Phe476Ser) | |
| MT | m.7330T>G | CA414792433 | MT-CO1 | c.1427T>G (p.Phe476Cys) | |
| MT | m.7330T= | CA2573327155 | MT-CO1 | c.1427T= (p.Phe476=) | |
| MT | m.7331C>A | CA414792434 | MT-CO1 | c.1428C>A (p.Phe476Leu) | |
| MT | m.7331C= | CA2573327157 | MT-CO1 | c.1428C= (p.Phe476=) | |
| MT | m.7331C>G | CA414792436 | MT-CO1 | c.1428C>G (p.Phe476Leu) | |
| MT | m.7331C>T | CA913176936 | MT-CO1 | c.1428C>T (p.Phe476=) | dbSNP |
| MT | m.7332G>A | CA414792439 | MT-CO1 | c.1429G>A (p.Ala477Thr) | ClinVar dbSNP |
| MT | m.7332G>C | CA414792440 | MT-CO1 | c.1429G>C (p.Ala477Pro) | |
| MT | m.7332G= | CA2499565122 | MT-CO1 | c.1429G= (p.Ala477=) | |
| MT | m.7332G>T | CA414792442 | MT-CO1 | c.1429G>T (p.Ala477Ser) | |
| MT | m.7333C>A | CA414792448 | MT-CO1 | c.1430C>A (p.Ala477Asp) | |
| MT | m.7333C= | CA2573327162 | MT-CO1 | c.1430C= (p.Ala477=) | |
| MT | m.7333C>G | CA414792446 | MT-CO1 | c.1430C>G (p.Ala477Gly) | |
| MT | m.7333C>T | CA414792445 | MT-CO1 | c.1430C>T (p.Ala477Val) | |
| MT | m.7334T>A | CA913176937 | MT-CO1 | c.1431T>A (p.Ala477=) | |
| MT | m.7334T>C | CA913176938 | MT-CO1 | c.1431T>C (p.Ala477=) | dbSNP |
| MT | m.7334T>G | CA913176939 | MT-CO1 | c.1431T>G (p.Ala477=) | |
| MT | m.7334T= | CA2499565123 | MT-CO1 | c.1431T= (p.Ala477=) | |
| MT | m.7335T>A | CA414792451 | MT-CO1 | c.1432T>A (p.Ser478Thr) | |
| MT | m.7335T>C | CA414792452 | MT-CO1 | c.1432T>C (p.Ser478Pro) | |
| MT | m.7335T>G | CA414792454 | MT-CO1 | c.1432T>G (p.Ser478Ala) | |
| MT | m.7335T= | CA2573327164 | MT-CO1 | c.1432T= (p.Ser478=) | |
| MT | m.7336C>A | CA414792457 | MT-CO1 | c.1433C>A (p.Ser478Ter) | |
| MT | m.7336C= | CA2573327166 | MT-CO1 | c.1433C= (p.Ser478=) | |
| MT | m.7336C>G | CA414792458 | MT-CO1 | c.1433C>G (p.Ser478Trp) | |
| MT | m.7336C>T | CA414792460 | MT-CO1 | c.1433C>T (p.Ser478Leu) | |
| MT | m.7336_7337insA | CA2573104842 | MT-CO1 | c.1433_1434insA (p.Lys479GlufsTer?) | |
| MT | m.7337G>A | CA337097602 | MT-CO1 | c.1434G>A (p.Ser478=) | dbSNP |
| MT | m.7337G>C | CA913176942 | MT-CO1 | c.1434G>C (p.Ser478=) | |
| MT | m.7337G= | CA2499565124 | MT-CO1 | c.1434G= (p.Ser478=) | |
| MT | m.7337G>T | CA913176940 | MT-CO1 | c.1434G>T (p.Ser478=) | dbSNP |
| MT | m.7337dup | CA2573104843 | MT-CO1 | c.1434dup (p.Lys479GlufsTer?) | |
| MT | m.7338A= | CA2573327170 | MT-CO1 | c.1435A= (p.Lys479=) | |
| MT | m.7338A>C | CA414792464 | MT-CO1 | c.1435A>C (p.Lys479Gln) | |
| MT | m.7338A>G | CA414792466 | MT-CO1 | c.1435A>G (p.Lys479Glu) | |
| MT | m.7338A>T | CA414792468 | MT-CO1 | c.1435A>T (p.Lys479Ter) | |
| MT | m.7339A= | CA2573327172 | MT-CO1 | c.1436A= (p.Lys479=) | |
| MT | m.7339A>C | CA414792474 | MT-CO1 | c.1436A>C (p.Lys479Thr) | |
| MT | m.7339A>G | CA414792472 | MT-CO1 | c.1436A>G (p.Lys479Arg) | |
| MT | m.7339A>T | CA414792471 | MT-CO1 | c.1436A>T (p.Lys479Met) | |
| MT | m.7340G>A | CA337097604 | MT-CO1 | c.1437G>A (p.Lys479=) | dbSNP |
| MT | m.7340G>C | CA414792478 | MT-CO1 | c.1437G>C (p.Lys479Asn) | |
| MT | m.7340G= | CA2499565125 | MT-CO1 | c.1437G= (p.Lys479=) | |
| MT | m.7340G>T | CA414792479 | MT-CO1 | c.1437G>T (p.Lys479Asn) | |
| MT | m.7341C>A | CA913176945 | MT-CO1 | c.1438C>A (p.Arg480=) | |
| MT | m.7341C= | CA2573327175 | MT-CO1 | c.1438C= (p.Arg480=) | |
| MT | m.7341C>G | CA414792482 | MT-CO1 | c.1438C>G (p.Arg480Gly) | |
| MT | m.7341C>T | CA414792483 | MT-CO1 | c.1438C>T (p.Arg480Ter) | |
| MT | m.7342G>A | CA414792485 | MT-CO1 | c.1439G>A (p.Arg480Gln) | dbSNP |
| MT | m.7342G>C | CA414792487 | MT-CO1 | c.1439G>C (p.Arg480Pro) | |
| MT | m.7342G= | CA2499565126 | MT-CO1 | c.1439G= (p.Arg480=) | |
| MT | m.7342G>T | CA414792489 | MT-CO1 | c.1439G>T (p.Arg480Leu) | |
| MT | m.7343A= | CA2573327178 | MT-CO1 | c.1440A= (p.Arg480=) | |
| MT | m.7343A>C | CA913176949 | MT-CO1 | c.1440A>C (p.Arg480=) | |
| MT | m.7343A>G | CA913176951 | MT-CO1 | c.1440A>G (p.Arg480=) | |
| MT | m.7343A>T | CA913176947 | MT-CO1 | c.1440A>T (p.Arg480=) | |
| MT | m.7346dup | CA2573104844 | MT-CO1 | c.1443dup (p.Val482SerfsTer?) | |
| MT | m.7346del | CA2573104845 | MT-CO1 | c.1443del (p.Val482SerfsTer2) | |
| MT | m.7344A= | CA2573327179 | MT-CO1 | c.1441A= (p.Lys481=) | |
| MT | m.7344A>C | CA414792490 | MT-CO1 | c.1441A>C (p.Lys481Gln) | |
| MT | m.7344A>G | CA414792492 | MT-CO1 | c.1441A>G (p.Lys481Glu) | |
| MT | m.7344A>T | CA414792494 | MT-CO1 | c.1441A>T (p.Lys481Ter) | |
| MT | m.7345A= | CA2573327180 | MT-CO1 | c.1442A= (p.Lys481=) | |
| MT | m.7345A>C | CA414792499 | MT-CO1 | c.1442A>C (p.Lys481Thr) | |
| MT | m.7345A>G | CA414792497 | MT-CO1 | c.1442A>G (p.Lys481Arg) | |
| MT | m.7345A>T | CA414792496 | MT-CO1 | c.1442A>T (p.Lys481Ile) | |
| MT | m.7346A= | CA2573327183 | MT-CO1 | c.1443A= (p.Lys481=) | |
| MT | m.7346A>C | CA414792501 | MT-CO1 | c.1443A>C (p.Lys481Asn) | |
| MT | m.7346A>G | CA913176955 | MT-CO1 | c.1443A>G (p.Lys481=) | dbSNP |
| MT | m.7346A>T | CA414792503 | MT-CO1 | c.1443A>T (p.Lys481Asn) | |
| MT | m.7347G>A | CA414792505 | MT-CO1 | c.1444G>A (p.Val482Ile) | ClinVar dbSNP |
| MT | m.7347G>C | CA414792507 | MT-CO1 | c.1444G>C (p.Val482Leu) | |
| MT | m.7347G= | CA2499565127 | MT-CO1 | c.1444G= (p.Val482=) | |
| MT | m.7347G>T | CA414792509 | MT-CO1 | c.1444G>T (p.Val482Phe) | |
| MT | m.7348T>A | CA414792511 | MT-CO1 | c.1445T>A (p.Val482Asp) | |
| MT | m.7348T>C | CA414792512 | MT-CO1 | c.1445T>C (p.Val482Ala) | dbSNP |
| MT | m.7348T>G | CA414792514 | MT-CO1 | c.1445T>G (p.Val482Gly) | |
| MT | m.7348T= | CA2499565128 | MT-CO1 | c.1445T= (p.Val482=) | |
| MT | m.7349C>A | CA913176956 | MT-CO1 | c.1446C>A (p.Val482=) | dbSNP |
| MT | m.7349C= | CA2499565129 | MT-CO1 | c.1446C= (p.Val482=) | |
| MT | m.7349C>G | CA913176957 | MT-CO1 | c.1446C>G (p.Val482=) | |
| MT | m.7349C>T | CA913176958 | MT-CO1 | c.1446C>T (p.Val482=) | dbSNP |
| MT | m.7350C>A | CA414792516 | MT-CO1 | c.1447C>A (p.Leu483Ile) | |
| MT | m.7350C= | CA2573327191 | MT-CO1 | c.1447C= (p.Leu483=) | |
| MT | m.7350C>G | CA414792518 | MT-CO1 | c.1447C>G (p.Leu483Val) | |
| MT | m.7350C>T | CA913176959 | MT-CO1 | c.1447C>T (p.Leu483=) | |
| MT | m.7351T>A | CA414792520 | MT-CO1 | c.1448T>A (p.Leu483Gln) | |
| MT | m.7351T>C | CA414792522 | MT-CO1 | c.1448T>C (p.Leu483Pro) | |
| MT | m.7351T>G | CA414792524 | MT-CO1 | c.1448T>G (p.Leu483Arg) | |
| MT | m.7351T= | CA2573327194 | MT-CO1 | c.1448T= (p.Leu483=) | |
| MT | m.7352A= | CA2499565130 | MT-CO1 | c.1449A= (p.Leu483=) | |
| MT | m.7352A>C | CA913176962 | MT-CO1 | c.1449A>C (p.Leu483=) | |
| MT | m.7352A>G | CA913176961 | MT-CO1 | c.1449A>G (p.Leu483=) | dbSNP |
| MT | m.7352A>T | CA913176960 | MT-CO1 | c.1449A>T (p.Leu483=) | dbSNP |
| MT | m.7353A= | CA2499565131 | MT-CO1 | c.1450A= (p.Ile484=) | |
| MT | m.7353A>C | CA414792530 | MT-CO1 | c.1450A>C (p.Ile484Leu) | |
| MT | m.7353A>G | CA414792526 | MT-CO1 | c.1450A>G (p.Ile484Val) | dbSNP |
| MT | m.7353A>T | CA414792528 | MT-CO1 | c.1450A>T (p.Ile484Leu) | |
| MT | m.7354T>A | CA414792532 | MT-CO1 | c.1451T>A (p.Ile484Lys) | |
| MT | m.7354T>C | CA414792534 | MT-CO1 | c.1451T>C (p.Ile484Thr) | dbSNP |
| MT | m.7354T>G | CA414792536 | MT-CO1 | c.1451T>G (p.Ile484Arg) | |
| MT | m.7354T= | CA2499565132 | MT-CO1 | c.1451T= (p.Ile484=) | |
| MT | m.7357_7359del | CA2573104846 | MT-CO1 | c.1454_1456del (p.Val485del) | |
| MT | m.7355A= | CA2573327200 | MT-CO1 | c.1452A= (p.Ile484=) | |
| MT | m.7355A>C | CA913176965 | MT-CO1 | c.1452A>C (p.Ile484=) | |
| MT | m.7355A>G | CA414792537 | MT-CO1 | c.1452A>G (p.Ile484Met) | |
| MT | m.7355A>T | CA913176966 | MT-CO1 | c.1452A>T (p.Ile484=) | |
| MT | m.7356G>A | CA414792540 | MT-CO1 | c.1453G>A (p.Val485Ile) | ClinVar dbSNP |
| MT | m.7356G>C | CA414792542 | MT-CO1 | c.1453G>C (p.Val485Leu) | |
| MT | m.7356G= | CA2499565133 | MT-CO1 | c.1453G= (p.Val485=) | |
| MT | m.7356G>T | CA414792543 | MT-CO1 | c.1453G>T (p.Val485Leu) | |
| MT | m.7357T>A | CA414792546 | MT-CO1 | c.1454T>A (p.Val485Glu) | |
| MT | m.7357T>C | CA414792548 | MT-CO1 | c.1454T>C (p.Val485Ala) | ClinVar dbSNP |
| MT | m.7357T>G | CA414792549 | MT-CO1 | c.1454T>G (p.Val485Gly) | |
| MT | m.7357T= | CA2499565134 | MT-CO1 | c.1454T= (p.Val485=) | |
| MT | m.7358A= | CA2499565135 | MT-CO1 | c.1455A= (p.Val485=) | |
| MT | m.7358A>C | CA913176970 | MT-CO1 | c.1455A>C (p.Val485=) | |
| MT | m.7358A>G | CA913176969 | MT-CO1 | c.1455A>G (p.Val485=) | dbSNP |
| MT | m.7358A>T | CA913176968 | MT-CO1 | c.1455A>T (p.Val485=) | |
| MT | m.7359G>A | CA414792555 | MT-CO1 | c.1456G>A (p.Glu486Lys) | |
| MT | m.7359G>C | CA414792553 | MT-CO1 | c.1456G>C (p.Glu486Gln) | |
| MT | m.7359G= | CA2573327211 | MT-CO1 | c.1456G= (p.Glu486=) | |
| MT | m.7359G>T | CA414792551 | MT-CO1 | c.1456G>T (p.Glu486Ter) | |
| MT | m.7360A= | CA2573327212 | MT-CO1 | c.1457A= (p.Glu486=) | |
| MT | m.7360A>C | CA414792557 | MT-CO1 | c.1457A>C (p.Glu486Ala) | |
| MT | m.7360A>G | CA414792559 | MT-CO1 | c.1457A>G (p.Glu486Gly) | |
| MT | m.7360A>T | CA414792561 | MT-CO1 | c.1457A>T (p.Glu486Val) | |
| MT | m.7361A= | CA2573327214 | MT-CO1 | c.1458A= (p.Glu486=) | |
| MT | m.7361A>C | CA414792563 | MT-CO1 | c.1458A>C (p.Glu486Asp) | |
| MT | m.7361A>G | CA913176971 | MT-CO1 | c.1458A>G (p.Glu486=) | |
| MT | m.7361A>T | CA414792565 | MT-CO1 | c.1458A>T (p.Glu486Asp) | |
| MT | m.7362G>A | CA414792567 | MT-CO1 | c.1459G>A (p.Glu487Lys) | ClinVar dbSNP |
| MT | m.7362G>C | CA414792568 | MT-CO1 | c.1459G>C (p.Glu487Gln) | |
| MT | m.7362G= | CA2499565136 | MT-CO1 | c.1459G= (p.Glu487=) | |
| MT | m.7362G>T | CA414792570 | MT-CO1 | c.1459G>T (p.Glu487Ter) | |
| MT | m.7363A= | CA2499565137 | MT-CO1 | c.1460A= (p.Glu487=) | |
| MT | m.7363A>C | CA414792572 | MT-CO1 | c.1460A>C (p.Glu487Ala) | |
| MT | m.7363A>G | CA414792574 | MT-CO1 | c.1460A>G (p.Glu487Gly) | ClinVar dbSNP |
| MT | m.7363A>T | CA414792576 | MT-CO1 | c.1460A>T (p.Glu487Val) | |
| MT | m.7364A= | CA2499565138 | MT-CO1 | c.1461A= (p.Glu487=) | |
| MT | m.7364A>C | CA414792580 | MT-CO1 | c.1461A>C (p.Glu487Asp) | |
| MT | m.7364A>G | CA337097606 | MT-CO1 | c.1461A>G (p.Glu487=) | dbSNP COSMIC COSMIC |
| MT | m.7364A>T | CA414792578 | MT-CO1 | c.1461A>T (p.Glu487Asp) | |
| MT | m.7365C>A | CA414792583 | MT-CO1 | c.1462C>A (p.Pro488Thr) | ClinVar dbSNP |
| MT | m.7365C= | CA2499565139 | MT-CO1 | c.1462C= (p.Pro488=) | |
| MT | m.7365C>G | CA414792584 | MT-CO1 | c.1462C>G (p.Pro488Ala) | |
| MT | m.7365C>T | CA414792585 | MT-CO1 | c.1462C>T (p.Pro488Ser) | dbSNP |
| MT | m.7366C>A | CA414792588 | MT-CO1 | c.1463C>A (p.Pro488His) | |
| MT | m.7366C= | CA2573327224 | MT-CO1 | c.1463C= (p.Pro488=) | |
| MT | m.7366C>G | CA414792590 | MT-CO1 | c.1463C>G (p.Pro488Arg) | |
| MT | m.7366C>T | CA414792591 | MT-CO1 | c.1463C>T (p.Pro488Leu) | |
| MT | m.7367C>A | CA913176973 | MT-CO1 | c.1464C>A (p.Pro488=) | |
| MT | m.7367C= | CA2573327227 | MT-CO1 | c.1464C= (p.Pro488=) | |
| MT | m.7367C>G | CA913176974 | MT-CO1 | c.1464C>G (p.Pro488=) | |
| MT | m.7367C>T | CA913176975 | MT-CO1 | c.1464C>T (p.Pro488=) | |
| MT | m.7368T>A | CA414792594 | MT-CO1 | c.1465T>A (p.Ser489Thr) | |
| MT | m.7368T>C | CA414792595 | MT-CO1 | c.1465T>C (p.Ser489Pro) | |
| MT | m.7368T>G | CA414792597 | MT-CO1 | c.1465T>G (p.Ser489Ala) | |
| MT | m.7368T= | CA2573327228 | MT-CO1 | c.1465T= (p.Ser489=) | |
| MT | m.7369C>A | CA414792599 | MT-CO1 | c.1466C>A (p.Ser489Tyr) | |
| MT | m.7369C= | CA2499565140 | MT-CO1 | c.1466C= (p.Ser489=) | |
| MT | m.7369C>G | CA414792601 | MT-CO1 | c.1466C>G (p.Ser489Cys) | dbSNP |
| MT | m.7369C>T | CA414792603 | MT-CO1 | c.1466C>T (p.Ser489Phe) | |
| MT | m.7370C>A | CA913176980 | MT-CO1 | c.1467C>A (p.Ser489=) | |
| MT | m.7370C= | CA2573327229 | MT-CO1 | c.1467C= (p.Ser489=) | |
| MT | m.7370C>G | CA913176978 | MT-CO1 | c.1467C>G (p.Ser489=) | |
| MT | m.7370C>T | CA913176979 | MT-CO1 | c.1467C>T (p.Ser489=) | dbSNP |
| MT | m.7371A= | CA2499565141 | MT-CO1 | c.1468A= (p.Ile490=) | |
| MT | m.7371A>C | CA414792607 | MT-CO1 | c.1468A>C (p.Ile490Leu) | |
| MT | m.7371A>G | CA414792609 | MT-CO1 | c.1468A>G (p.Ile490Val) | dbSNP |
| MT | m.7371A>T | CA414792605 | MT-CO1 | c.1468A>T (p.Ile490Leu) | |
| MT | m.7372T>A | CA414792611 | MT-CO1 | c.1469T>A (p.Ile490Lys) | |
| MT | m.7372T>C | CA414792614 | MT-CO1 | c.1469T>C (p.Ile490Thr) | dbSNP |
| MT | m.7372T>G | CA414792612 | MT-CO1 | c.1469T>G (p.Ile490Arg) | |
| MT | m.7372T= | CA2499565142 | MT-CO1 | c.1469T= (p.Ile490=) | |
| MT | m.7372_7373insC | CA2573104847 | MT-CO1 | c.1469_1470insC (p.Asn491LysfsTer24) | |
| MT | m.7373A= | CA2499565143 | MT-CO1 | c.1470A= (p.Ile490=) | |
| MT | m.7373A>C | CA913176987 | MT-CO1 | c.1470A>C (p.Ile490=) | |
| MT | m.7373A>G | CA16040648 | MT-CO1 | c.1470A>G (p.Ile490Met) | ClinVar dbSNP |
| MT | m.7373A>T | CA913176984 | MT-CO1 | c.1470A>T (p.Ile490=) | |
| MT | m.7374A= | CA2499565144 | MT-CO1 | c.1471A= (p.Asn491=) | |
| MT | m.7374A>C | CA414792617 | MT-CO1 | c.1471A>C (p.Asn491His) | |
| MT | m.7374A>G | CA414792616 | MT-CO1 | c.1471A>G (p.Asn491Asp) | ClinVar dbSNP |
| MT | m.7374A>T | CA414792619 | MT-CO1 | c.1471A>T (p.Asn491Tyr) | |
| MT | m.7375A= | CA2499565145 | MT-CO1 | c.1472A= (p.Asn491=) | |
| MT | m.7375A>C | CA414792622 | MT-CO1 | c.1472A>C (p.Asn491Thr) | |
| MT | m.7375A>G | CA414792623 | MT-CO1 | c.1472A>G (p.Asn491Ser) | dbSNP |
| MT | m.7375A>T | CA414792625 | MT-CO1 | c.1472A>T (p.Asn491Ile) | |
| MT | m.7376C>A | CA414792627 | MT-CO1 | c.1473C>A (p.Asn491Lys) | |
| MT | m.7376C= | CA2499565146 | MT-CO1 | c.1473C= (p.Asn491=) | |
| MT | m.7376C>G | CA414792629 | MT-CO1 | c.1473C>G (p.Asn491Lys) | |
| MT | m.7376C>T | CA913176989 | MT-CO1 | c.1473C>T (p.Asn491=) | dbSNP |
| MT | m.7377C>A | CA414792630 | MT-CO1 | c.1474C>A (p.Leu492Met) | |
| MT | m.7377C= | CA2573327237 | MT-CO1 | c.1474C= (p.Leu492=) | |
| MT | m.7377C>G | CA414792632 | MT-CO1 | c.1474C>G (p.Leu492Val) | |
| MT | m.7377C>T | CA913176990 | MT-CO1 | c.1474C>T (p.Leu492=) | |
| MT | m.7378T>A | CA414792634 | MT-CO1 | c.1475T>A (p.Leu492Gln) | |
| MT | m.7378T>C | CA414792636 | MT-CO1 | c.1475T>C (p.Leu492Pro) | |
| MT | m.7378T>G | CA414792637 | MT-CO1 | c.1475T>G (p.Leu492Arg) | |
| MT | m.7378T= | CA2573327240 | MT-CO1 | c.1475T= (p.Leu492=) | |
| MT | m.7379G>A | CA913176992 | MT-CO1 | c.1476G>A (p.Leu492=) | dbSNP |
| MT | m.7379G>C | CA913176991 | MT-CO1 | c.1476G>C (p.Leu492=) | |
| MT | m.7379G= | CA2499565147 | MT-CO1 | c.1476G= (p.Leu492=) | |
| MT | m.7379G>T | CA913176993 | MT-CO1 | c.1476G>T (p.Leu492=) | |
| MT | m.7379_7380insTTTTT | CA2573104848 | MT-CO1 | c.1476_1477insTTTTT (p.Glu493PhefsTer21) | |
| MT | m.7380G>A | CA414792643 | MT-CO1 | c.1477G>A (p.Glu493Lys) | dbSNP |
| MT | m.7380G>C | CA414792640 | MT-CO1 | c.1477G>C (p.Glu493Gln) | |
| MT | m.7380G= | CA2499565148 | MT-CO1 | c.1477G= (p.Glu493=) | |
| MT | m.7380G>T | CA414792642 | MT-CO1 | c.1477G>T (p.Glu493Ter) | |
| MT | m.7381A= | CA2573327247 | MT-CO1 | c.1478A= (p.Glu493=) | |
| MT | m.7381A>C | CA414792645 | MT-CO1 | c.1478A>C (p.Glu493Ala) | |
| MT | m.7381A>G | CA414792647 | MT-CO1 | c.1478A>G (p.Glu493Gly) | |
| MT | m.7381A>T | CA414792649 | MT-CO1 | c.1478A>T (p.Glu493Val) | |
| MT | m.7382G>A | CA913176995 | MT-CO1 | c.1479G>A (p.Glu493=) | dbSNP |
| MT | m.7382G>C | CA414792651 | MT-CO1 | c.1479G>C (p.Glu493Asp) | |
| MT | m.7382G= | CA2499565149 | MT-CO1 | c.1479G= (p.Glu493=) | |
| MT | m.7382G>T | CA414792652 | MT-CO1 | c.1479G>T (p.Glu493Asp) | |
| MT | m.7383T>A | CA414792654 | MT-CO1 | c.1480T>A (p.Ter494Arg) | |
| MT | m.7383T>C | CA414792656 | MT-CO1 | c.1480T>C (p.Ter494Arg) | |
| MT | m.7383T>G | CA414792658 | MT-CO1 | c.1480T>G (p.Ter494Gly) | |
| MT | m.7383T= | CA414792660 | MT-CO1 | c.1480T= (p.Ter494=) | |
| MT | m.7384G>A | CA414792665 | MT-CO1 | c.1481G>A (p.Ter494=) | |
| MT | m.7384G>C | CA414792664 | MT-CO1 | c.1481G>C (p.Ter494Ser) | |
| MT | m.7384G= | CA414792666 | MT-CO1 | c.1481G= (p.Ter494=) | |
| MT | m.7384G>T | CA414792662 | MT-CO1 | c.1481G>T (p.Ter494Leu) | |
| MT | m.7385A= | CA414792668 | MT-CO1 | c.1482A= (p.Ter494=) | |
| MT | m.7385A>C | CA414792670 | MT-CO1 | c.1482A>C (p.Ter494Cys) | |
| MT | m.7385A>G | CA414792672 | MT-CO1 | c.1482A>G (p.Ter494Trp) | dbSNP |
| MT | m.7385A>T | CA414792673 | MT-CO1 | c.1482A>T (p.Ter494Cys) | |
| MT | m.7386_7388del | CA2573104849 | MT-CO1 | c.1483_1485del (p.Leu495del) | |
| MT | m.7386C>A | CA414792675 | MT-CO1 | c.1483C>A (p.Leu495Ile) | |
| MT | m.7386C= | CA2573327253 | MT-CO1 | c.1483C= (p.Leu495=) | |
| MT | m.7386C>G | CA414792677 | MT-CO1 | c.1483C>G (p.Leu495Val) | |
| MT | m.7386C>T | CA913176998 | MT-CO1 | c.1483C>T (p.Leu495=) | |
| MT | m.7387T>A | CA414792679 | MT-CO1 | c.1484T>A (p.Leu495Gln) | |
| MT | m.7387T>C | CA414792680 | MT-CO1 | c.1484T>C (p.Leu495Pro) | |
| MT | m.7387T>G | CA414792682 | MT-CO1 | c.1484T>G (p.Leu495Arg) | |
| MT | m.7387T= | CA2573327255 | MT-CO1 | c.1484T= (p.Leu495=) | |
| MT | m.7390_7391del | CA2573104850 | MT-CO1 | c.1487_1488del (p.Tyr496TrpfsTer18) | |
| MT | m.7388A= | CA2499565150 | MT-CO1 | c.1485A= (p.Leu495=) | |
| MT | m.7388A>C | CA913177000 | MT-CO1 | c.1485A>C (p.Leu495=) | |
| MT | m.7388A>G | CA913176999 | MT-CO1 | c.1485A>G (p.Leu495=) | dbSNP |
| MT | m.7388A>T | CA913177001 | MT-CO1 | c.1485A>T (p.Leu495=) | |
| MT | m.7389T>A | CA414792687 | MT-CO1 | c.1486T>A (p.Tyr496Asn) | |
| MT | m.7389T>C | CA337097609 | MT-CO1 | c.1486T>C (p.Tyr496His) | ClinVar dbSNP |
| MT | m.7389T>G | CA414792684 | MT-CO1 | c.1486T>G (p.Tyr496Asp) | |
| MT | m.7389T= | CA2499565151 | MT-CO1 | c.1486T= (p.Tyr496=) | |
| MT | m.7390A= | CA2573327260 | MT-CO1 | c.1487A= (p.Tyr496=) | |
| MT | m.7390A>C | CA414792689 | MT-CO1 | c.1487A>C (p.Tyr496Ser) | |
| MT | m.7390A>G | CA414792690 | MT-CO1 | c.1487A>G (p.Tyr496Cys) | |
| MT | m.7390A>T | CA414792692 | MT-CO1 | c.1487A>T (p.Tyr496Phe) | |
| MT | m.7391del | CA2573104851 | MT-CO1 | c.1488del (p.Tyr496Ter) | |
| MT | m.7391T>A | CA414792694 | MT-CO1 | c.1488T>A (p.Tyr496Ter) | |
| MT | m.7391T>C | CA913177002 | MT-CO1 | c.1488T>C (p.Tyr496=) | dbSNP |
| MT | m.7391T>G | CA414792696 | MT-CO1 | c.1488T>G (p.Tyr496Ter) | |
| MT | m.7391T= | CA2499565152 | MT-CO1 | c.1488T= (p.Tyr496=) | |
| MT | m.7392G>A | CA414792698 | MT-CO1 | c.1489G>A (p.Gly497Arg) | |
| MT | m.7392G>C | CA414792699 | MT-CO1 | c.1489G>C (p.Gly497Arg) | |
| MT | m.7392G= | CA2573327261 | MT-CO1 | c.1489G= (p.Gly497=) | |
| MT | m.7392G>T | CA414792701 | MT-CO1 | c.1489G>T (p.Gly497Ter) | |
| MT | m.7393G>A | CA414792703 | MT-CO1 | c.1490G>A (p.Gly497Glu) | dbSNP |
| MT | m.7393G>C | CA414792705 | MT-CO1 | c.1490G>C (p.Gly497Ala) | |
| MT | m.7393G= | CA2499565153 | MT-CO1 | c.1490G= (p.Gly497=) | |
| MT | m.7393G>T | CA414792707 | MT-CO1 | c.1490G>T (p.Gly497Val) | |
| MT | m.7394A= | CA2499565154 | MT-CO1 | c.1491A= (p.Gly497=) | |
| MT | m.7394A>C | CA913177005 | MT-CO1 | c.1491A>C (p.Gly497=) | |
| MT | m.7394A>G | CA913177004 | MT-CO1 | c.1491A>G (p.Gly497=) | dbSNP |
| MT | m.7394A>T | CA913177003 | MT-CO1 | c.1491A>T (p.Gly497=) | |
| MT | m.7394_7399del | CA2573104852 | MT-CO1 | c.1491_1496del (p.Cys498_Pro499del) | |
| MT | m.7395T>A | CA414792711 | MT-CO1 | c.1492T>A (p.Cys498Ser) | |
| MT | m.7395T>C | CA414792713 | MT-CO1 | c.1492T>C (p.Cys498Arg) | |
| MT | m.7395T>G | CA414792709 | MT-CO1 | c.1492T>G (p.Cys498Gly) | |
| MT | m.7395T= | CA2573327267 | MT-CO1 | c.1492T= (p.Cys498=) | |
| MT | m.7396G>A | CA414792719 | MT-CO1 | c.1493G>A (p.Cys498Tyr) | |
| MT | m.7396G>C | CA414792715 | MT-CO1 | c.1493G>C (p.Cys498Ser) | |
| MT | m.7396G= | CA2499565155 | MT-CO1 | c.1493G= (p.Cys498=) | |
| MT | m.7396G>T | CA414792717 | MT-CO1 | c.1493G>T (p.Cys498Phe) | |
| MT | m.7397C>A | CA414792720 | MT-CO1 | c.1494C>A (p.Cys498Ter) | |
| MT | m.7397C= | CA2499565156 | MT-CO1 | c.1494C= (p.Cys498=) | |
| MT | m.7397C>G | CA414792722 | MT-CO1 | c.1494C>G (p.Cys498Trp) | |
| MT | m.7397C>T | CA913177006 | MT-CO1 | c.1494C>T (p.Cys498=) | dbSNP |
| MT | m.7402dup | CA920608833 | MT-CO1 | c.1499dup (p.Pro501ThrfsTer14) | dbSNP |
| MT | m.7401_7402dup | CA2573104853 | MT-CO1 | c.1498_1499dup (p.Pro501HisfsTer12) | |
| MT | m.7402del | CA1139771348 | MT-CO1 | c.1499del (p.Pro500HisfsTer12) | |
| MT | m.7398C>A | CA414792724 | MT-CO1 | c.1495C>A (p.Pro499Thr) | |
| MT | m.7398C= | CA2573327272 | MT-CO1 | c.1495C= (p.Pro499=) | |
| MT | m.7398C>G | CA414792726 | MT-CO1 | c.1495C>G (p.Pro499Ala) | |
| MT | m.7398C>T | CA414792728 | MT-CO1 | c.1495C>T (p.Pro499Ser) | |
| MT | m.7399C>A | CA414792730 | MT-CO1 | c.1496C>A (p.Pro499His) | |
| MT | m.7399C= | CA2573327274 | MT-CO1 | c.1496C= (p.Pro499=) | |
| MT | m.7399C>G | CA414792731 | MT-CO1 | c.1496C>G (p.Pro499Arg) | |
| MT | m.7399C>T | CA414792733 | MT-CO1 | c.1496C>T (p.Pro499Leu) | |
| MT | m.7400C>A | CA913177009 | MT-CO1 | c.1497C>A (p.Pro499=) | |
| MT | m.7400C= | CA2573327277 | MT-CO1 | c.1497C= (p.Pro499=) | |
| MT | m.7400C>G | CA913177008 | MT-CO1 | c.1497C>G (p.Pro499=) | |
| MT | m.7400C>T | CA913177007 | MT-CO1 | c.1497C>T (p.Pro499=) | |
| MT | m.7400_7401insGA | CA2573104854 | MT-CO1 | c.1497_1498insGA (p.Pro500AspfsTer13) | |
| MT | m.7401C>A | CA414792739 | MT-CO1 | c.1498C>A (p.Pro500Thr) | |
| MT | m.7401C= | CA2573327278 | MT-CO1 | c.1498C= (p.Pro500=) | |
| MT | m.7401C>G | CA414792737 | MT-CO1 | c.1498C>G (p.Pro500Ala) | |
| MT | m.7401C>T | CA414792736 | MT-CO1 | c.1498C>T (p.Pro500Ser) | |
| MT | m.7402C>A | CA414792741 | MT-CO1 | c.1499C>A (p.Pro500Gln) | |
| MT | m.7402C= | CA2573327279 | MT-CO1 | c.1499C= (p.Pro500=) | |
| MT | m.7402C>G | CA414792743 | MT-CO1 | c.1499C>G (p.Pro500Arg) | |
| MT | m.7402C>T | CA414792745 | MT-CO1 | c.1499C>T (p.Pro500Leu) | |
| MT | m.7403_7404del | CA2573104855 | MT-CO1 | c.1500_1501del (p.Pro501LeufsTer13) | |
| MT | m.7403del | CA2573104856 | MT-CO1 | c.1500del (p.Tyr502ThrfsTer10) | |
| MT | m.7403A= | CA2499565157 | MT-CO1 | c.1500A= (p.Pro500=) | |
| MT | m.7403A>C | CA337097611 | MT-CO1 | c.1500A>C (p.Pro500=) | |
| MT | m.7403A>G | CA913177012 | MT-CO1 | c.1500A>G (p.Pro500=) | dbSNP |
| MT | m.7403A>T | CA337097613 | MT-CO1 | c.1500A>T (p.Pro500=) | |
| MT | m.7404C>A | CA414792747 | MT-CO1 | c.1501C>A (p.Pro501Thr) | |
| MT | m.7404C= | CA2573327281 | MT-CO1 | c.1501C= (p.Pro501=) | |
| MT | m.7404C>G | CA414792748 | MT-CO1 | c.1501C>G (p.Pro501Ala) | |
| MT | m.7404C>T | CA414792749 | MT-CO1 | c.1501C>T (p.Pro501Ser) | |
| MT | m.7405C>A | CA414792750 | MT-CO1 | c.1502C>A (p.Pro501His) | |
| MT | m.7405C= | CA2573327283 | MT-CO1 | c.1502C= (p.Pro501=) | |
| MT | m.7405C>G | CA414792751 | MT-CO1 | c.1502C>G (p.Pro501Arg) | |
| MT | m.7405C>T | CA414792752 | MT-CO1 | c.1502C>T (p.Pro501Leu) | |
| MT | m.7405_7406insGAGAT | CA2573104857 | MT-CO1 | c.1502_1503insGAGAT (p.Tyr502ArgfsTer12) | |
| MT | m.7406C>A | CA913177017 | MT-CO1 | c.1503C>A (p.Pro501=) | |
| MT | m.7406C= | CA2573327285 | MT-CO1 | c.1503C= (p.Pro501=) | |
| MT | m.7406C>G | CA913177016 | MT-CO1 | c.1503C>G (p.Pro501=) | |
| MT | m.7406C>T | CA913177015 | MT-CO1 | c.1503C>T (p.Pro501=) | |
| MT | m.7407del | CA2573104858 | MT-CO1 | c.1504del (p.Tyr502ThrfsTer10) | |
| MT | m.7407T>A | CA414792754 | MT-CO1 | c.1504T>A (p.Tyr502Asn) | |
| MT | m.7407T>C | CA337097615 | MT-CO1 | c.1504T>C (p.Tyr502His) | dbSNP COSMIC COSMIC |
| MT | m.7407T>G | CA414792753 | MT-CO1 | c.1504T>G (p.Tyr502Asp) | |
| MT | m.7407T= | CA2499565158 | MT-CO1 | c.1504T= (p.Tyr502=) | |
| MT | m.7408A= | CA2499565159 | MT-CO1 | c.1505A= (p.Tyr502=) | |
| MT | m.7408A>C | CA414792755 | MT-CO1 | c.1505A>C (p.Tyr502Ser) | |
| MT | m.7408A>G | CA414792756 | MT-CO1 | c.1505A>G (p.Tyr502Cys) | ClinVar dbSNP |
| MT | m.7408A>T | CA414792757 | MT-CO1 | c.1505A>T (p.Tyr502Phe) | |
| MT | m.7410_7412del | CA2573104859 | MT-CO1 | c.1507_1509del (p.His503del) | |
| MT | m.7409C>A | CA414792758 | MT-CO1 | c.1506C>A (p.Tyr502Ter) | |
| MT | m.7409C= | CA2499565160 | MT-CO1 | c.1506C= (p.Tyr502=) | |
| MT | m.7409C>G | CA414792759 | MT-CO1 | c.1506C>G (p.Tyr502Ter) | |
| MT | m.7409C>T | CA913177021 | MT-CO1 | c.1506C>T (p.Tyr502=) | dbSNP |
| MT | m.7410C>A | CA414792762 | MT-CO1 | c.1507C>A (p.His503Asn) | |
| MT | m.7410C= | CA2573327296 | MT-CO1 | c.1507C= (p.His503=) | |
| MT | m.7410C>G | CA414792760 | MT-CO1 | c.1507C>G (p.His503Asp) | |
| MT | m.7410C>T | CA414792761 | MT-CO1 | c.1507C>T (p.His503Tyr) | |
| MT | m.7411A= | CA2573327298 | MT-CO1 | c.1508A= (p.His503=) | |
| MT | m.7411A>C | CA414792763 | MT-CO1 | c.1508A>C (p.His503Pro) | |
| MT | m.7411A>G | CA414792764 | MT-CO1 | c.1508A>G (p.His503Arg) | |
| MT | m.7411A>T | CA414792765 | MT-CO1 | c.1508A>T (p.His503Leu) | |
| MT | m.7412C>A | CA414792766 | MT-CO1 | c.1509C>A (p.His503Gln) | |
| MT | m.7412C= | CA2499565161 | MT-CO1 | c.1509C= (p.His503=) | |
| MT | m.7412C>G | CA414792767 | MT-CO1 | c.1509C>G (p.His503Gln) | |
| MT | m.7412C>T | CA913177023 | MT-CO1 | c.1509C>T (p.His503=) | dbSNP |
| MT | m.7413A= | CA2573327301 | MT-CO1 | c.1510A= (p.Thr504=) | |
| MT | m.7413A>C | CA414792768 | MT-CO1 | c.1510A>C (p.Thr504Pro) | |
| MT | m.7413A>G | CA414792770 | MT-CO1 | c.1510A>G (p.Thr504Ala) | |
| MT | m.7413A>T | CA414792769 | MT-CO1 | c.1510A>T (p.Thr504Ser) | |
| MT | m.7414C>A | CA414792771 | MT-CO1 | c.1511C>A (p.Thr504Lys) | |
| MT | m.7414C= | CA2573327306 | MT-CO1 | c.1511C= (p.Thr504=) | |
| MT | m.7414C>G | CA414792772 | MT-CO1 | c.1511C>G (p.Thr504Arg) | |
| MT | m.7414C>T | CA414792773 | MT-CO1 | c.1511C>T (p.Thr504Ile) | |
| MT | m.7415A= | CA2573327307 | MT-CO1 | c.1512A= (p.Thr504=) | |
| MT | m.7415A>C | CA913177026 | MT-CO1 | c.1512A>C (p.Thr504=) | |
| MT | m.7415A>G | CA913177027 | MT-CO1 | c.1512A>G (p.Thr504=) | |
| MT | m.7415A>T | CA913177028 | MT-CO1 | c.1512A>T (p.Thr504=) | |
| MT | m.7416T>A | CA414792774 | MT-CO1 | c.1513T>A (p.Phe505Ile) | |
| MT | m.7416T>C | CA414792775 | MT-CO1 | c.1513T>C (p.Phe505Leu) | |
| MT | m.7416T>G | CA414792776 | MT-CO1 | c.1513T>G (p.Phe505Val) | |
| MT | m.7416T= | CA2573327310 | MT-CO1 | c.1513T= (p.Phe505=) | |
| MT | m.7417T>A | CA414792777 | MT-CO1 | c.1514T>A (p.Phe505Tyr) | |
| MT | m.7417T>C | CA414792778 | MT-CO1 | c.1514T>C (p.Phe505Ser) | |
| MT | m.7417T>G | CA414792779 | MT-CO1 | c.1514T>G (p.Phe505Cys) | |
| MT | m.7417T= | CA2573327313 | MT-CO1 | c.1514T= (p.Phe505=) | |
| MT | m.7418C>A | CA414792780 | MT-CO1 | c.1515C>A (p.Phe505Leu) | |
| MT | m.7418C= | CA2499565162 | MT-CO1 | c.1515C= (p.Phe505=) | |
| MT | m.7418C>G | CA414792781 | MT-CO1 | c.1515C>G (p.Phe505Leu) | |
| MT | m.7418C>T | CA913177030 | MT-CO1 | c.1515C>T (p.Phe505=) | dbSNP |