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.8169A= | CA2573328906 | MT-CO2 | c.584A= (p.Gln195=) | |
| MT | m.8169A>C | CA414795323 | MT-CO2 | c.584A>C (p.Gln195Pro) | |
| MT | m.8169A>G | CA414795325 | MT-CO2 | c.584A>G (p.Gln195Arg) | |
| MT | m.8169A>T | CA414795327 | MT-CO2 | c.584A>T (p.Gln195Leu) | |
| MT | m.8170A= | CA2499565502 | MT-CO2 | c.585A= (p.Gln195=) | |
| MT | m.8170A>C | CA414795329 | MT-CO2 | c.585A>C (p.Gln195His) | |
| MT | m.8170A>G | CA913178701 | MT-CO2 | c.585A>G (p.Gln195=) | dbSNP |
| MT | m.8170A>T | CA414795331 | MT-CO2 | c.585A>T (p.Gln195His) | |
| MT | m.8171T>A | CA414795333 | MT-CO2 | c.586T>A (p.Cys196Ser) | |
| MT | m.8171T>C | CA414795335 | MT-CO2 | c.586T>C (p.Cys196Arg) | |
| MT | m.8171T>G | CA414795337 | MT-CO2 | c.586T>G (p.Cys196Gly) | |
| MT | m.8171T= | CA2573328912 | MT-CO2 | c.586T= (p.Cys196=) | |
| MT | m.8172G>A | CA414795338 | MT-CO2 | c.587G>A (p.Cys196Tyr) | |
| MT | m.8172G>C | CA414795340 | MT-CO2 | c.587G>C (p.Cys196Ser) | |
| MT | m.8172G= | CA2573328915 | MT-CO2 | c.587G= (p.Cys196=) | |
| MT | m.8172G>T | CA414795342 | MT-CO2 | c.587G>T (p.Cys196Phe) | |
| MT | m.8173C>A | CA414795344 | MT-CO2 | c.588C>A (p.Cys196Ter) | |
| MT | m.8173C= | CA2573328916 | MT-CO2 | c.588C= (p.Cys196=) | |
| MT | m.8173C>G | CA414795346 | MT-CO2 | c.588C>G (p.Cys196Trp) | |
| MT | m.8173C>T | CA913178707 | MT-CO2 | c.588C>T (p.Cys196=) | |
| MT | m.8174T>A | CA414795348 | MT-CO2 | c.589T>A (p.Ser197Thr) | |
| MT | m.8174T>C | CA414795350 | MT-CO2 | c.589T>C (p.Ser197Pro) | |
| MT | m.8174T>G | CA414795351 | MT-CO2 | c.589T>G (p.Ser197Ala) | |
| MT | m.8174T= | CA2573328919 | MT-CO2 | c.589T= (p.Ser197=) | |
| MT | m.8175C>A | CA414795357 | MT-CO2 | c.590C>A (p.Ser197Tyr) | |
| MT | m.8175C= | CA2573328922 | MT-CO2 | c.590C= (p.Ser197=) | |
| MT | m.8175C>G | CA414795354 | MT-CO2 | c.590C>G (p.Ser197Cys) | |
| MT | m.8175C>T | CA414795355 | MT-CO2 | c.590C>T (p.Ser197Phe) | |
| MT | m.8176T>A | CA913178716 | MT-CO2 | c.591T>A (p.Ser197=) | |
| MT | m.8176T>C | CA913178715 | MT-CO2 | c.591T>C (p.Ser197=) | dbSNP |
| MT | m.8176T>G | CA913178714 | MT-CO2 | c.591T>G (p.Ser197=) | |
| MT | m.8176T= | CA2499565503 | MT-CO2 | c.591T= (p.Ser197=) | |
| MT | m.8177G>A | CA414795360 | MT-CO2 | c.592G>A (p.Glu198Lys) | |
| MT | m.8177G>C | CA414795361 | MT-CO2 | c.592G>C (p.Glu198Gln) | |
| MT | m.8177G= | CA2573328925 | MT-CO2 | c.592G= (p.Glu198=) | |
| MT | m.8177G>T | CA414795363 | MT-CO2 | c.592G>T (p.Glu198Ter) | |
| MT | m.8178A= | CA2573328928 | MT-CO2 | c.593A= (p.Glu198=) | |
| MT | m.8178A>C | CA414795365 | MT-CO2 | c.593A>C (p.Glu198Ala) | |
| MT | m.8178A>G | CA414795367 | MT-CO2 | c.593A>G (p.Glu198Gly) | |
| MT | m.8178A>T | CA414795369 | MT-CO2 | c.593A>T (p.Glu198Val) | |
| MT | m.8179A= | CA2499565504 | MT-CO2 | c.594A= (p.Glu198=) | |
| MT | m.8179A>C | CA414795371 | MT-CO2 | c.594A>C (p.Glu198Asp) | |
| MT | m.8179A>G | CA913178720 | MT-CO2 | c.594A>G (p.Glu198=) | dbSNP |
| MT | m.8179A>T | CA414795372 | MT-CO2 | c.594A>T (p.Glu198Asp) | |
| MT | m.8180A= | CA2573328934 | MT-CO2 | c.595A= (p.Ile199=) | |
| MT | m.8180A>C | CA414795375 | MT-CO2 | c.595A>C (p.Ile199Leu) | |
| MT | m.8180A>G | CA414795377 | MT-CO2 | c.595A>G (p.Ile199Val) | |
| MT | m.8180A>T | CA414795378 | MT-CO2 | c.595A>T (p.Ile199Phe) | |
| MT | m.8181T>A | CA414795384 | MT-CO2 | c.596T>A (p.Ile199Asn) | |
| MT | m.8181T>C | CA414795383 | MT-CO2 | c.596T>C (p.Ile199Thr) | |
| MT | m.8181T>G | CA414795380 | MT-CO2 | c.596T>G (p.Ile199Ser) | |
| MT | m.8181T= | CA2573328937 | MT-CO2 | c.596T= (p.Ile199=) | |
| MT | m.8182C>A | CA913178724 | MT-CO2 | c.597C>A (p.Ile199=) | |
| MT | m.8182C= | CA2573328938 | MT-CO2 | c.597C= (p.Ile199=) | |
| MT | m.8182C>G | CA414795386 | MT-CO2 | c.597C>G (p.Ile199Met) | |
| MT | m.8182C>T | CA913178723 | MT-CO2 | c.597C>T (p.Ile199=) | |
| MT | m.8183T>A | CA414795388 | MT-CO2 | c.598T>A (p.Cys200Ser) | |
| MT | m.8183T>C | CA414795392 | MT-CO2 | c.598T>C (p.Cys200Arg) | |
| MT | m.8183T>G | CA414795389 | MT-CO2 | c.598T>G (p.Cys200Gly) | |
| MT | m.8183T= | CA2573328939 | MT-CO2 | c.598T= (p.Cys200=) | |
| MT | m.8184G>A | CA414795394 | MT-CO2 | c.599G>A (p.Cys200Tyr) | |
| MT | m.8184G>C | CA414795395 | MT-CO2 | c.599G>C (p.Cys200Ser) | |
| MT | m.8184G= | CA2573328940 | MT-CO2 | c.599G= (p.Cys200=) | |
| MT | m.8184G>T | CA414795397 | MT-CO2 | c.599G>T (p.Cys200Phe) | |
| MT | m.8185T>A | CA414795400 | MT-CO2 | c.600T>A (p.Cys200Ter) | |
| MT | m.8185T>C | CA645611393 | MT-CO2 | c.600T>C (p.Cys200=) | dbSNP COSMIC |
| MT | m.8185T>G | CA414795401 | MT-CO2 | c.600T>G (p.Cys200Trp) | |
| MT | m.8185T= | CA2499565505 | MT-CO2 | c.600T= (p.Cys200=) | |
| MT | m.8186G>A | CA414795403 | MT-CO2 | c.601G>A (p.Gly201Arg) | |
| MT | m.8186G>C | CA414795405 | MT-CO2 | c.601G>C (p.Gly201Arg) | |
| MT | m.8186G= | CA2573328943 | MT-CO2 | c.601G= (p.Gly201=) | |
| MT | m.8186G>T | CA414795407 | MT-CO2 | c.601G>T (p.Gly201Ter) | |
| MT | m.8187G>A | CA414795409 | MT-CO2 | c.602G>A (p.Gly201Glu) | ClinVar dbSNP |
| MT | m.8187G>C | CA414795410 | MT-CO2 | c.602G>C (p.Gly201Ala) | |
| MT | m.8187G= | CA2499565506 | MT-CO2 | c.602G= (p.Gly201=) | |
| MT | m.8187G>T | CA414795412 | MT-CO2 | c.602G>T (p.Gly201Val) | |
| MT | m.8188A= | CA2499565507 | MT-CO2 | c.603A= (p.Gly201=) | |
| MT | m.8188A>C | CA913178729 | MT-CO2 | c.603A>C (p.Gly201=) | |
| MT | m.8188A>G | CA337097815 | MT-CO2 | c.603A>G (p.Gly201=) | dbSNP |
| MT | m.8188A>T | CA913178728 | MT-CO2 | c.603A>T (p.Gly201=) | |
| MT | m.8189G>A | CA414795416 | MT-CO2 | c.604G>A (p.Ala202Thr) | |
| MT | m.8189G>C | CA414795419 | MT-CO2 | c.604G>C (p.Ala202Pro) | |
| MT | m.8189G= | CA2573328946 | MT-CO2 | c.604G= (p.Ala202=) | |
| MT | m.8189G>T | CA414795417 | MT-CO2 | c.604G>T (p.Ala202Ser) | |
| MT | m.8190C>A | CA414795421 | MT-CO2 | c.605C>A (p.Ala202Glu) | |
| MT | m.8190C= | CA2573328949 | MT-CO2 | c.605C= (p.Ala202=) | |
| MT | m.8190C>G | CA414795423 | MT-CO2 | c.605C>G (p.Ala202Gly) | |
| MT | m.8190C>T | CA414795425 | MT-CO2 | c.605C>T (p.Ala202Val) | |
| MT | m.8191A= | CA2499565508 | MT-CO2 | c.606A= (p.Ala202=) | |
| MT | m.8191A>C | CA913178734 | MT-CO2 | c.606A>C (p.Ala202=) | |
| MT | m.8191A>G | CA913178733 | MT-CO2 | c.606A>G (p.Ala202=) | dbSNP |
| MT | m.8191A>T | CA913178735 | MT-CO2 | c.606A>T (p.Ala202=) | dbSNP |
| MT | m.8192A= | CA2573328951 | MT-CO2 | c.607A= (p.Asn203=) | |
| MT | m.8192A>C | CA414795427 | MT-CO2 | c.607A>C (p.Asn203His) | |
| MT | m.8192A>G | CA414795428 | MT-CO2 | c.607A>G (p.Asn203Asp) | |
| MT | m.8192A>T | CA414795430 | MT-CO2 | c.607A>T (p.Asn203Tyr) | |
| MT | m.8193A= | CA2573328953 | MT-CO2 | c.608A= (p.Asn203=) | |
| MT | m.8193A>C | CA414795432 | MT-CO2 | c.608A>C (p.Asn203Thr) | |
| MT | m.8193A>G | CA414795434 | MT-CO2 | c.608A>G (p.Asn203Ser) | |
| MT | m.8193A>T | CA414795435 | MT-CO2 | c.608A>T (p.Asn203Ile) | |
| MT | m.8194C>A | CA414795440 | MT-CO2 | c.609C>A (p.Asn203Lys) | |
| MT | m.8194C= | CA2573328955 | MT-CO2 | c.609C= (p.Asn203=) | |
| MT | m.8194C>G | CA414795437 | MT-CO2 | c.609C>G (p.Asn203Lys) | |
| MT | m.8194C>T | CA913178737 | MT-CO2 | c.609C>T (p.Asn203=) | |
| MT | m.8195C>A | CA414795441 | MT-CO2 | c.610C>A (p.His204Asn) | |
| MT | m.8195C= | CA2573328957 | MT-CO2 | c.610C= (p.His204=) | |
| MT | m.8195C>G | CA414795443 | MT-CO2 | c.610C>G (p.His204Asp) | |
| MT | m.8195C>T | CA414795445 | MT-CO2 | c.610C>T (p.His204Tyr) | |
| MT | m.8196A= | CA2573328960 | MT-CO2 | c.611A= (p.His204=) | |
| MT | m.8196A>C | CA414795447 | MT-CO2 | c.611A>C (p.His204Pro) | |
| MT | m.8196A>G | CA414795449 | MT-CO2 | c.611A>G (p.His204Arg) | |
| MT | m.8196A>T | CA414795451 | MT-CO2 | c.611A>T (p.His204Leu) | |
| MT | m.8197C>A | CA414795453 | MT-CO2 | c.612C>A (p.His204Gln) | |
| MT | m.8197C= | CA2573328964 | MT-CO2 | c.612C= (p.His204=) | |
| MT | m.8197C>G | CA414795454 | MT-CO2 | c.612C>G (p.His204Gln) | |
| MT | m.8197C>T | CA913178739 | MT-CO2 | c.612C>T (p.His204=) | |
| MT | m.8198A= | CA2573328967 | MT-CO2 | c.613A= (p.Ser205=) | |
| MT | m.8198A>C | CA414795457 | MT-CO2 | c.613A>C (p.Ser205Arg) | |
| MT | m.8198A>G | CA414795458 | MT-CO2 | c.613A>G (p.Ser205Gly) | |
| MT | m.8198A>T | CA414795460 | MT-CO2 | c.613A>T (p.Ser205Cys) | |
| MT | m.8199G>A | CA414795465 | MT-CO2 | c.614G>A (p.Ser205Asn) | dbSNP |
| MT | m.8199G>C | CA414795464 | MT-CO2 | c.614G>C (p.Ser205Thr) | |
| MT | m.8199G= | CA2499565509 | MT-CO2 | c.614G= (p.Ser205=) | |
| MT | m.8199G>T | CA414795462 | MT-CO2 | c.614G>T (p.Ser205Ile) | |
| MT | m.8200T>A | CA414795467 | MT-CO2 | c.615T>A (p.Ser205Arg) | |
| MT | m.8200T>C | CA645611394 | MT-CO2 | c.615T>C (p.Ser205=) | dbSNP COSMIC |
| MT | m.8200T>G | CA414795469 | MT-CO2 | c.615T>G (p.Ser205Arg) | |
| MT | m.8200T= | CA2499565510 | MT-CO2 | c.615T= (p.Ser205=) | |
| MT | m.8201T>A | CA414795471 | MT-CO2 | c.616T>A (p.Phe206Ile) | |
| MT | m.8201T>C | CA414795473 | MT-CO2 | c.616T>C (p.Phe206Leu) | dbSNP |
| MT | m.8201T>G | CA414795475 | MT-CO2 | c.616T>G (p.Phe206Val) | |
| MT | m.8201T= | CA2499565511 | MT-CO2 | c.616T= (p.Phe206=) | |
| MT | m.8202T>A | CA414795478 | MT-CO2 | c.617T>A (p.Phe206Tyr) | |
| MT | m.8202T>C | CA414795479 | MT-CO2 | c.617T>C (p.Phe206Ser) | ClinVar dbSNP |
| MT | m.8202T>G | CA414795480 | MT-CO2 | c.617T>G (p.Phe206Cys) | |
| MT | m.8202T= | CA2499565512 | MT-CO2 | c.617T= (p.Phe206=) | |
| MT | m.8203C>A | CA414795482 | MT-CO2 | c.618C>A (p.Phe206Leu) | |
| MT | m.8203C= | CA2573328972 | MT-CO2 | c.618C= (p.Phe206=) | |
| MT | m.8203C>G | CA414795483 | MT-CO2 | c.618C>G (p.Phe206Leu) | |
| MT | m.8203C>T | CA913178744 | MT-CO2 | c.618C>T (p.Phe206=) | |
| MT | m.8204A= | CA2573328974 | MT-CO2 | c.619A= (p.Met207=) | |
| MT | m.8204A>C | CA414795486 | MT-CO2 | c.619A>C (p.Met207Leu) | |
| MT | m.8204A>G | CA414795488 | MT-CO2 | c.619A>G (p.Met207Val) | |
| MT | m.8204A>T | CA414795489 | MT-CO2 | c.619A>T (p.Met207Leu) | |
| MT | m.8205T>A | CA414795495 | MT-CO2 | c.620T>A (p.Met207Lys) | |
| MT | m.8205T>C | CA414795494 | MT-CO2 | c.620T>C (p.Met207Thr) | |
| MT | m.8205T>G | CA414795492 | MT-CO2 | c.620T>G (p.Met207Arg) | |
| MT | m.8205T= | CA2573328977 | MT-CO2 | c.620T= (p.Met207=) | |
| MT | m.8206G>A | CA337097816 | MT-CO2 | c.621G>A (p.Met207Ile) | ClinVar dbSNP |
| MT | m.8206G>C | CA337097817 | MT-CO2 | c.621G>C (p.Met207Ile) | |
| MT | m.8206G= | CA2499565513 | MT-CO2 | c.621G= (p.Met207=) | |
| MT | m.8206G>T | CA337097818 | MT-CO2 | c.621G>T (p.Met207Ile) | |
| MT | m.8207C>A | CA414795502 | MT-CO2 | c.622C>A (p.Pro208Thr) | |
| MT | m.8207C= | CA2573328982 | MT-CO2 | c.622C= (p.Pro208=) | |
| MT | m.8207C>G | CA414795504 | MT-CO2 | c.622C>G (p.Pro208Ala) | |
| MT | m.8207C>T | CA414795506 | MT-CO2 | c.622C>T (p.Pro208Ser) | COSMIC |
| MT | m.8208C>A | CA414795508 | MT-CO2 | c.623C>A (p.Pro208His) | |
| MT | m.8208C= | CA2573328983 | MT-CO2 | c.623C= (p.Pro208=) | |
| MT | m.8208C>G | CA414795510 | MT-CO2 | c.623C>G (p.Pro208Arg) | |
| MT | m.8208C>T | CA414795511 | MT-CO2 | c.623C>T (p.Pro208Leu) | |
| MT | m.8209C>A | CA913178753 | MT-CO2 | c.624C>A (p.Pro208=) | |
| MT | m.8209C= | CA2499565514 | MT-CO2 | c.624C= (p.Pro208=) | |
| MT | m.8209C>G | CA913178752 | MT-CO2 | c.624C>G (p.Pro208=) | |
| MT | m.8209C>T | CA913178750 | MT-CO2 | c.624C>T (p.Pro208=) | dbSNP |
| MT | m.8210A= | CA2499565515 | MT-CO2 | c.625A= (p.Ile209=) | |
| MT | m.8210A>C | CA414795516 | MT-CO2 | c.625A>C (p.Ile209Leu) | |
| MT | m.8210A>G | CA414795514 | MT-CO2 | c.625A>G (p.Ile209Val) | ClinVar dbSNP |
| MT | m.8210A>T | CA414795515 | MT-CO2 | c.625A>T (p.Ile209Phe) | |
| MT | m.8211T>A | CA414795519 | MT-CO2 | c.626T>A (p.Ile209Asn) | |
| MT | m.8211T>C | CA414795520 | MT-CO2 | c.626T>C (p.Ile209Thr) | |
| MT | m.8211T>G | CA414795522 | MT-CO2 | c.626T>G (p.Ile209Ser) | |
| MT | m.8211T= | CA2573328990 | MT-CO2 | c.626T= (p.Ile209=) | |
| MT | m.8212del | CA2573104889 | MT-CO2 | c.627del (p.Ile209MetfsTer3) | |
| MT | m.8212C>A | CA913178756 | MT-CO2 | c.627C>A (p.Ile209=) | |
| MT | m.8212C= | CA2499565516 | MT-CO2 | c.627C= (p.Ile209=) | |
| MT | m.8212C>G | CA414795523 | MT-CO2 | c.627C>G (p.Ile209Met) | |
| MT | m.8212C>T | CA337097820 | MT-CO2 | c.627C>T (p.Ile209=) | dbSNP |
| MT | m.8213G>A | CA414795527 | MT-CO2 | c.628G>A (p.Val210Ile) | |
| MT | m.8213G>C | CA414795530 | MT-CO2 | c.628G>C (p.Val210Leu) | |
| MT | m.8213G= | CA2573328994 | MT-CO2 | c.628G= (p.Val210=) | |
| MT | m.8213G>T | CA414795528 | MT-CO2 | c.628G>T (p.Val210Phe) | |
| MT | m.8214T>A | CA414795532 | MT-CO2 | c.629T>A (p.Val210Asp) | |
| MT | m.8214T>C | CA414795534 | MT-CO2 | c.629T>C (p.Val210Ala) | dbSNP |
| MT | m.8214T>G | CA414795536 | MT-CO2 | c.629T>G (p.Val210Gly) | |
| MT | m.8214T= | CA2499565517 | MT-CO2 | c.629T= (p.Val210=) | |
| MT | m.8215C>A | CA913178759 | MT-CO2 | c.630C>A (p.Val210=) | dbSNP |
| MT | m.8215C= | CA2499565518 | MT-CO2 | c.630C= (p.Val210=) | |
| MT | m.8215C>G | CA913178758 | MT-CO2 | c.630C>G (p.Val210=) | |
| MT | m.8215C>T | CA913178757 | MT-CO2 | c.630C>T (p.Val210=) | dbSNP |
| MT | m.8216C>A | CA414795538 | MT-CO2 | c.631C>A (p.Leu211Ile) | |
| MT | m.8216C= | CA2573328999 | MT-CO2 | c.631C= (p.Leu211=) | |
| MT | m.8216C>G | CA414795540 | MT-CO2 | c.631C>G (p.Leu211Val) | |
| MT | m.8216C>T | CA913178761 | MT-CO2 | c.631C>T (p.Leu211=) | |
| MT | m.8217T>A | CA414795542 | MT-CO2 | c.632T>A (p.Leu211Gln) | |
| MT | m.8217T>C | CA414795544 | MT-CO2 | c.632T>C (p.Leu211Pro) | |
| MT | m.8217T>G | CA414795546 | MT-CO2 | c.632T>G (p.Leu211Arg) | |
| MT | m.8217T= | CA2573329002 | MT-CO2 | c.632T= (p.Leu211=) | |
| MT | m.8218A= | CA2573329004 | MT-CO2 | c.633A= (p.Leu211=) | |
| MT | m.8218A>C | CA913178766 | MT-CO2 | c.633A>C (p.Leu211=) | |
| MT | m.8218A>G | CA913178764 | MT-CO2 | c.633A>G (p.Leu211=) | |
| MT | m.8218A>T | CA913178763 | MT-CO2 | c.633A>T (p.Leu211=) | |
| MT | m.8219G>A | CA414795548 | MT-CO2 | c.634G>A (p.Glu212Lys) | |
| MT | m.8219G>C | CA414795550 | MT-CO2 | c.634G>C (p.Glu212Gln) | |
| MT | m.8219G= | CA2573329006 | MT-CO2 | c.634G= (p.Glu212=) | |
| MT | m.8219G>T | CA414795552 | MT-CO2 | c.634G>T (p.Glu212Ter) | |
| MT | m.8220A= | CA2573329008 | MT-CO2 | c.635A= (p.Glu212=) | |
| MT | m.8220A>C | CA414795558 | MT-CO2 | c.635A>C (p.Glu212Ala) | |
| MT | m.8220A>G | CA414795554 | MT-CO2 | c.635A>G (p.Glu212Gly) | |
| MT | m.8220A>T | CA414795556 | MT-CO2 | c.635A>T (p.Glu212Val) | |
| MT | m.8221A= | CA2573329011 | MT-CO2 | c.636A= (p.Glu212=) | |
| MT | m.8221A>C | CA414795560 | MT-CO2 | c.636A>C (p.Glu212Asp) | |
| MT | m.8221A>G | CA913178773 | MT-CO2 | c.636A>G (p.Glu212=) | |
| MT | m.8221A>T | CA414795562 | MT-CO2 | c.636A>T (p.Glu212Asp) | |
| MT | m.8222T>A | CA414795564 | MT-CO2 | c.637T>A (p.Leu213Ile) | |
| MT | m.8222T>C | CA913178775 | MT-CO2 | c.637T>C (p.Leu213=) | dbSNP |
| MT | m.8222T>G | CA414795565 | MT-CO2 | c.637T>G (p.Leu213Val) | |
| MT | m.8222T= | CA2499565519 | MT-CO2 | c.637T= (p.Leu213=) | |
| MT | m.8223T>A | CA414795567 | MT-CO2 | c.638T>A (p.Leu213Ter) | |
| MT | m.8223T>C | CA414795569 | MT-CO2 | c.638T>C (p.Leu213Ser) | |
| MT | m.8223T>G | CA414795571 | MT-CO2 | c.638T>G (p.Leu213Ter) | |
| MT | m.8223T= | CA2573329013 | MT-CO2 | c.638T= (p.Leu213=) | |
| MT | m.8224A= | CA2499565520 | MT-CO2 | c.639A= (p.Leu213=) | |
| MT | m.8224A>C | CA414795572 | MT-CO2 | c.639A>C (p.Leu213Phe) | |
| MT | m.8224A>G | CA913178778 | MT-CO2 | c.639A>G (p.Leu213=) | dbSNP |
| MT | m.8224A>T | CA414795576 | MT-CO2 | c.639A>T (p.Leu213Phe) | |
| MT | m.8225A= | CA2499565521 | MT-CO2 | c.640A= (p.Ile214=) | |
| MT | m.8225A>C | CA414795578 | MT-CO2 | c.640A>C (p.Ile214Leu) | |
| MT | m.8225A>G | CA414795580 | MT-CO2 | c.640A>G (p.Ile214Val) | ClinVar dbSNP |
| MT | m.8225A>T | CA414795582 | MT-CO2 | c.640A>T (p.Ile214Phe) | |
| MT | m.8226T>A | CA414795588 | MT-CO2 | c.641T>A (p.Ile214Asn) | |
| MT | m.8226T>C | CA414795587 | MT-CO2 | c.641T>C (p.Ile214Thr) | |
| MT | m.8226T>G | CA414795585 | MT-CO2 | c.641T>G (p.Ile214Ser) | |
| MT | m.8226T= | CA2573329017 | MT-CO2 | c.641T= (p.Ile214=) | |
| MT | m.8227T>A | CA913178782 | MT-CO2 | c.642T>A (p.Ile214=) | |
| MT | m.8227T>C | CA645611395 | MT-CO2 | c.642T>C (p.Ile214=) | dbSNP COSMIC |
| MT | m.8227T>G | CA414795590 | MT-CO2 | c.642T>G (p.Ile214Met) | |
| MT | m.8227T= | CA2499565522 | MT-CO2 | c.642T= (p.Ile214=) | |
| MT | m.8228C>A | CA414795592 | MT-CO2 | c.643C>A (p.Pro215Thr) | |
| MT | m.8228C= | CA2573329018 | MT-CO2 | c.643C= (p.Pro215=) | |
| MT | m.8228C>G | CA414795594 | MT-CO2 | c.643C>G (p.Pro215Ala) | |
| MT | m.8228C>T | CA414795596 | MT-CO2 | c.643C>T (p.Pro215Ser) | |
| MT | m.8229C>A | CA414795598 | MT-CO2 | c.644C>A (p.Pro215His) | |
| MT | m.8229C= | CA2573329021 | MT-CO2 | c.644C= (p.Pro215=) | |
| MT | m.8229C>G | CA414795600 | MT-CO2 | c.644C>G (p.Pro215Arg) | |
| MT | m.8229C>T | CA414795601 | MT-CO2 | c.644C>T (p.Pro215Leu) | |
| MT | m.8230C>A | CA913178789 | MT-CO2 | c.645C>A (p.Pro215=) | |
| MT | m.8230C= | CA2499565523 | MT-CO2 | c.645C= (p.Pro215=) | |
| MT | m.8230C>G | CA913178788 | MT-CO2 | c.645C>G (p.Pro215=) | |
| MT | m.8230C>T | CA913178787 | MT-CO2 | c.645C>T (p.Pro215=) | dbSNP |
| MT | m.8231C>A | CA414795604 | MT-CO2 | c.646C>A (p.Leu216Ile) | |
| MT | m.8231C= | CA2499565524 | MT-CO2 | c.646C= (p.Leu216=) | |
| MT | m.8231C>G | CA414795605 | MT-CO2 | c.646C>G (p.Leu216Val) | |
| MT | m.8231C>T | CA913178790 | MT-CO2 | c.646C>T (p.Leu216=) | dbSNP |
| MT | m.8232T>A | CA414795607 | MT-CO2 | c.647T>A (p.Leu216Gln) | |
| MT | m.8232T>C | CA414795608 | MT-CO2 | c.647T>C (p.Leu216Pro) | |
| MT | m.8232T>G | CA414795611 | MT-CO2 | c.647T>G (p.Leu216Arg) | |
| MT | m.8232T= | CA2573329056 | MT-CO2 | c.647T= (p.Leu216=) | |
| MT | m.8233A= | CA2499565525 | MT-CO2 | c.648A= (p.Leu216=) | |
| MT | m.8233A>C | CA913178796 | MT-CO2 | c.648A>C (p.Leu216=) | |
| MT | m.8233A>G | CA913178795 | MT-CO2 | c.648A>G (p.Leu216=) | dbSNP |
| MT | m.8233A>T | CA913178793 | MT-CO2 | c.648A>T (p.Leu216=) | |
| MT | m.8234A= | CA2573329058 | MT-CO2 | c.649A= (p.Lys217=) | |
| MT | m.8234A>C | CA414795613 | MT-CO2 | c.649A>C (p.Lys217Gln) | |
| MT | m.8234A>G | CA414795617 | MT-CO2 | c.649A>G (p.Lys217Glu) | |
| MT | m.8234A>T | CA414795615 | MT-CO2 | c.649A>T (p.Lys217Ter) | |
| MT | m.8235A= | CA2573329061 | MT-CO2 | c.650A= (p.Lys217=) | |
| MT | m.8235A>C | CA414795618 | MT-CO2 | c.650A>C (p.Lys217Thr) | |
| MT | m.8235A>G | CA414795622 | MT-CO2 | c.650A>G (p.Lys217Arg) | |
| MT | m.8235A>T | CA414795620 | MT-CO2 | c.650A>T (p.Lys217Ile) | |
| MT | m.8236A= | CA2573329063 | MT-CO2 | c.651A= (p.Lys217=) | |
| MT | m.8236A>C | CA414795624 | MT-CO2 | c.651A>C (p.Lys217Asn) | |
| MT | m.8236A>G | CA913178800 | MT-CO2 | c.651A>G (p.Lys217=) | |
| MT | m.8236A>T | CA414795625 | MT-CO2 | c.651A>T (p.Lys217Asn) | |
| MT | m.8237A= | CA2499565526 | MT-CO2 | c.652A= (p.Ile218=) | |
| MT | m.8237A>C | CA414795627 | MT-CO2 | c.652A>C (p.Ile218Leu) | |
| MT | m.8237A>G | CA414795629 | MT-CO2 | c.652A>G (p.Ile218Val) | ClinVar dbSNP |
| MT | m.8237A>T | CA414795631 | MT-CO2 | c.652A>T (p.Ile218Phe) | |
| MT | m.8238T>A | CA414795632 | MT-CO2 | c.653T>A (p.Ile218Asn) | |
| MT | m.8238T>C | CA414795635 | MT-CO2 | c.653T>C (p.Ile218Thr) | ClinVar dbSNP |
| MT | m.8238T>G | CA414795637 | MT-CO2 | c.653T>G (p.Ile218Ser) | |
| MT | m.8238T= | CA2499565527 | MT-CO2 | c.653T= (p.Ile218=) | |
| MT | m.8238_8242del | CA2573104891 | MT-CO2 | c.653_657del (p.Ile218ArgfsTer?) | |
| MT | m.8239C>A | CA913178802 | MT-CO2 | c.654C>A (p.Ile218=) | |
| MT | m.8239C= | CA2573329069 | MT-CO2 | c.654C= (p.Ile218=) | |
| MT | m.8239C>G | CA414795639 | MT-CO2 | c.654C>G (p.Ile218Met) | |
| MT | m.8239C>T | CA913178801 | MT-CO2 | c.654C>T (p.Ile218=) | |
| MT | m.8240T>A | CA414795644 | MT-CO2 | c.655T>A (p.Phe219Ile) | |
| MT | m.8240T>C | CA414795643 | MT-CO2 | c.655T>C (p.Phe219Leu) | |
| MT | m.8240T>G | CA414795641 | MT-CO2 | c.655T>G (p.Phe219Val) | |
| MT | m.8240T= | CA2573329073 | MT-CO2 | c.655T= (p.Phe219=) | |
| MT | m.8241T>A | CA414795647 | MT-CO2 | c.656T>A (p.Phe219Tyr) | |
| MT | m.8241T>C | CA414795648 | MT-CO2 | c.656T>C (p.Phe219Ser) | |
| MT | m.8241T>G | CA414795650 | MT-CO2 | c.656T>G (p.Phe219Cys) | |
| MT | m.8241T= | CA2573329075 | MT-CO2 | c.656T= (p.Phe219=) | |
| MT | m.8242T>A | CA414795652 | MT-CO2 | c.657T>A (p.Phe219Leu) | |
| MT | m.8242T>C | CA913178803 | MT-CO2 | c.657T>C (p.Phe219=) | dbSNP |
| MT | m.8242T>G | CA414795654 | MT-CO2 | c.657T>G (p.Phe219Leu) | |
| MT | m.8242T= | CA2499565528 | MT-CO2 | c.657T= (p.Phe219=) | |
| MT | m.8243G>A | CA414795656 | MT-CO2 | c.658G>A (p.Glu220Lys) | |
| MT | m.8243G>C | CA414795658 | MT-CO2 | c.658G>C (p.Glu220Gln) | |
| MT | m.8243G= | CA2573329079 | MT-CO2 | c.658G= (p.Glu220=) | |
| MT | m.8243G>T | CA414795660 | MT-CO2 | c.658G>T (p.Glu220Ter) | |
| MT | m.8244A= | CA2573329080 | MT-CO2 | c.659A= (p.Glu220=) | |
| MT | m.8244A>C | CA414795661 | MT-CO2 | c.659A>C (p.Glu220Ala) | |
| MT | m.8244A>G | CA414795664 | MT-CO2 | c.659A>G (p.Glu220Gly) | |
| MT | m.8244A>T | CA414795666 | MT-CO2 | c.659A>T (p.Glu220Val) | |
| MT | m.8245A= | CA2499565529 | MT-CO2 | c.660A= (p.Glu220=) | |
| MT | m.8245A>C | CA414795670 | MT-CO2 | c.660A>C (p.Glu220Asp) | |
| MT | m.8245A>G | CA913178805 | MT-CO2 | c.660A>G (p.Glu220=) | dbSNP |
| MT | m.8245A>T | CA414795668 | MT-CO2 | c.660A>T (p.Glu220Asp) | |
| MT | m.8246A= | CA2573329083 | MT-CO2 | c.661A= (p.Ile221=) | |
| MT | m.8246A>C | CA414795672 | MT-CO2 | c.661A>C (p.Ile221Leu) | |
| MT | m.8246A>G | CA414795674 | MT-CO2 | c.661A>G (p.Ile221Val) | |
| MT | m.8246A>T | CA414795676 | MT-CO2 | c.661A>T (p.Ile221Leu) | |
| MT | m.8246_8247insC | CA2573104892 | MT-CO2 | c.661_662insC (p.Ile221ThrfsTer?) | |
| MT | m.8247T>A | CA414795678 | MT-CO2 | c.662T>A (p.Ile221Lys) | |
| MT | m.8247T>C | CA414795680 | MT-CO2 | c.662T>C (p.Ile221Thr) | dbSNP |
| MT | m.8247T>G | CA414795682 | MT-CO2 | c.662T>G (p.Ile221Arg) | |
| MT | m.8247T= | CA2499565530 | MT-CO2 | c.662T= (p.Ile221=) | |
| MT | m.8248A= | CA2499565531 | MT-CO2 | c.663A= (p.Ile221=) | |
| MT | m.8248A>C | CA913178809 | MT-CO2 | c.663A>C (p.Ile221=) | |
| MT | m.8248A>G | CA337097821 | MT-CO2 | c.663A>G (p.Ile221Met) | dbSNP |
| MT | m.8248A>T | CA913178808 | MT-CO2 | c.663A>T (p.Ile221=) | |
| MT | m.8249G>A | CA414795685 | MT-CO2 | c.664G>A (p.Gly222Arg) | |
| MT | m.8249G>C | CA414795688 | MT-CO2 | c.664G>C (p.Gly222Arg) | |
| MT | m.8249G= | CA2573329087 | MT-CO2 | c.664G= (p.Gly222=) | |
| MT | m.8249G>T | CA414795689 | MT-CO2 | c.664G>T (p.Gly222Trp) | |
| MT | m.8250G>A | CA414795692 | MT-CO2 | c.665G>A (p.Gly222Glu) | |
| MT | m.8250G>C | CA414795694 | MT-CO2 | c.665G>C (p.Gly222Ala) | |
| MT | m.8250G= | CA2573329089 | MT-CO2 | c.665G= (p.Gly222=) | |
| MT | m.8250G>T | CA414795695 | MT-CO2 | c.665G>T (p.Gly222Val) | |
| MT | m.8251G>A | CA337097823 | MT-CO2 | c.666G>A (p.Gly222=) | dbSNP |
| MT | m.8251G>C | CA913178811 | MT-CO2 | c.666G>C (p.Gly222=) | |
| MT | m.8251G= | CA2499565532 | MT-CO2 | c.666G= (p.Gly222=) | |
| MT | m.8251G>T | CA913178810 | MT-CO2 | c.666G>T (p.Gly222=) | |
| MT | m.8252C>A | CA414795698 | MT-CO2 | c.667C>A (p.Pro223Thr) | |
| MT | m.8252C= | CA2499565533 | MT-CO2 | c.667C= (p.Pro223=) | |
| MT | m.8252C>G | CA414795700 | MT-CO2 | c.667C>G (p.Pro223Ala) | |
| MT | m.8252C>T | CA414795702 | MT-CO2 | c.667C>T (p.Pro223Ser) | ClinVar dbSNP |
| MT | m.8253C>A | CA414795704 | MT-CO2 | c.668C>A (p.Pro223His) | |
| MT | m.8253C= | CA2573329095 | MT-CO2 | c.668C= (p.Pro223=) | |
| MT | m.8253C>G | CA414795705 | MT-CO2 | c.668C>G (p.Pro223Arg) | |
| MT | m.8253C>T | CA414795707 | MT-CO2 | c.668C>T (p.Pro223Leu) | |
| MT | m.8254C>A | CA913178817 | MT-CO2 | c.669C>A (p.Pro223=) | |
| MT | m.8254C= | CA2499565534 | MT-CO2 | c.669C= (p.Pro223=) | |
| MT | m.8254C>G | CA913178816 | MT-CO2 | c.669C>G (p.Pro223=) | |
| MT | m.8254C>T | CA913178815 | MT-CO2 | c.669C>T (p.Pro223=) | dbSNP |
| MT | m.8255G>A | CA414795710 | MT-CO2 | c.670G>A (p.Val224Ile) | dbSNP |
| MT | m.8255G>C | CA337097825 | MT-CO2 | c.670G>C (p.Val224Leu) | dbSNP |
| MT | m.8255G= | CA2499565535 | MT-CO2 | c.670G= (p.Val224=) | |
| MT | m.8255G>T | CA414795712 | MT-CO2 | c.670G>T (p.Val224Leu) | |
| MT | m.8256T>A | CA414795715 | MT-CO2 | c.671T>A (p.Val224Glu) | |
| MT | m.8256T>C | CA414795716 | MT-CO2 | c.671T>C (p.Val224Ala) | ClinVar dbSNP |
| MT | m.8256T>G | CA414795718 | MT-CO2 | c.671T>G (p.Val224Gly) | |
| MT | m.8256T= | CA2499565536 | MT-CO2 | c.671T= (p.Val224=) | |
| MT | m.8257A= | CA2573329108 | MT-CO2 | c.672A= (p.Val224=) | |
| MT | m.8257A>C | CA913178823 | MT-CO2 | c.672A>C (p.Val224=) | |
| MT | m.8257A>G | CA913178822 | MT-CO2 | c.672A>G (p.Val224=) | |
| MT | m.8257A>T | CA913178821 | MT-CO2 | c.672A>T (p.Val224=) | |
| MT | m.8257_8258delinsAT | CA2499565537 | MT-CO2 | c.672_673delinsAT (p.Val224=) | |
| MT | m.8258T>A | CA414795721 | MT-CO2 | c.673T>A (p.Phe225Ile) | |
| MT | m.8258T>C | CA414795724 | MT-CO2 | c.673T>C (p.Phe225Leu) | ClinVar dbSNP |
| MT | m.8258T>G | CA414795722 | MT-CO2 | c.673T>G (p.Phe225Val) | |
| MT | m.8258T= | CA2499565538 | MT-CO2 | c.673T= (p.Phe225=) | |
| MT | m.8260del | CA920609044 | MT-CO2 | c.675del (p.Phe225LeufsTer?) | dbSNP |
| MT | m.8259T>A | CA414795727 | MT-CO2 | c.674T>A (p.Phe225Tyr) | |
| MT | m.8259T>C | CA414795730 | MT-CO2 | c.674T>C (p.Phe225Ser) | dbSNP |
| MT | m.8259T>G | CA414795728 | MT-CO2 | c.674T>G (p.Phe225Cys) | |
| MT | m.8259T= | CA2499565539 | MT-CO2 | c.674T= (p.Phe225=) | |
| MT | m.8260T>A | CA414795733 | MT-CO2 | c.675T>A (p.Phe225Leu) | |
| MT | m.8260T>C | CA16603245 | MT-CO2 | c.675T>C (p.Phe225=) | ClinVar dbSNP |
| MT | m.8260T>G | CA414795734 | MT-CO2 | c.675T>G (p.Phe225Leu) | |
| MT | m.8260T= | CA2499565540 | MT-CO2 | c.675T= (p.Phe225=) | |
| MT | m.8261A= | CA2499565541 | MT-CO2 | c.676A= (p.Thr226=) | |
| MT | m.8261A>C | CA414795737 | MT-CO2 | c.676A>C (p.Thr226Pro) | |
| MT | m.8261A>G | CA414795739 | MT-CO2 | c.676A>G (p.Thr226Ala) | dbSNP |
| MT | m.8261A>T | CA414795740 | MT-CO2 | c.676A>T (p.Thr226Ser) | |
| MT | m.8265_8274del | CA2741808808 | |||
| MT | m.8262C>A | CA414795743 | MT-CO2 | c.677C>A (p.Thr226Asn) | |
| MT | m.8262C= | CA2573329116 | MT-CO2 | c.677C= (p.Thr226=) | |
| MT | m.8262C>G | CA414795745 | MT-CO2 | c.677C>G (p.Thr226Ser) | |
| MT | m.8262C>T | CA414795747 | MT-CO2 | c.677C>T (p.Thr226Ile) | |
| MT | m.8263C>A | CA913178837 | MT-CO2 | c.678C>A (p.Thr226=) | |
| MT | m.8263C= | CA2573329117 | MT-CO2 | c.678C= (p.Thr226=) | |
| MT | m.8263C>G | CA913178836 | MT-CO2 | c.678C>G (p.Thr226=) | |
| MT | m.8263C>T | CA913178835 | MT-CO2 | c.678C>T (p.Thr226=) | |
| MT | m.8264C>A | CA414795749 | MT-CO2 | c.679C>A (p.Leu227Ile) | |
| MT | m.8264C= | CA2573329119 | MT-CO2 | c.679C= (p.Leu227=) | |
| MT | m.8264C>G | CA414795750 | MT-CO2 | c.679C>G (p.Leu227Val) | |
| MT | m.8264C>T | CA913178838 | MT-CO2 | c.679C>T (p.Leu227=) | dbSNP |
| MT | m.8265del | CA2573104893 | MT-CO2 | c.680del (p.Leu227HisfsTer?) | |
| MT | m.8265T>A | CA414795753 | MT-CO2 | c.680T>A (p.Leu227Gln) | |
| MT | m.8265T>C | CA414795755 | MT-CO2 | c.680T>C (p.Leu227Pro) | ClinVar dbSNP |
| MT | m.8265T>G | CA414795756 | MT-CO2 | c.680T>G (p.Leu227Arg) | dbSNP |
| MT | m.8265T= | CA2499565542 | MT-CO2 | c.680T= (p.Leu227=) | |
| MT | m.8266A= | CA2499565543 | MT-CO2 | c.681A= (p.Leu227=) | |
| MT | m.8266A>C | CA913178843 | MT-CO2 | c.681A>C (p.Leu227=) | |
| MT | m.8266A>G | CA913178841 | MT-CO2 | c.681A>G (p.Leu227=) | dbSNP |
| MT | m.8266A>T | CA913178840 | MT-CO2 | c.681A>T (p.Leu227=) | |
| MT | m.8267T>A | CA414795759 | MT-CO2 | c.682T>A (p.Ter228Lys) | |
| MT | m.8267T>C | CA414795762 | MT-CO2 | c.682T>C (p.Ter228Gln) | |
| MT | m.8267T>G | CA414795761 | MT-CO2 | c.682T>G (p.Ter228Glu) | |
| MT | m.8267T= | CA2573329125 | MT-CO2 | c.682T= (p.Ter228=) | |
| MT | m.8268A= | CA2513114455 | MT-CO2 | c.683A= (p.Ter228=) | |
| MT | m.8268A>C | CA414795765 | MT-CO2 | c.683A>C (p.Ter228Ser) | |
| MT | m.8268A>G | CA414795767 | MT-CO2 | c.683A>G (p.Ter228Trp) | |
| MT | m.8268A>T | CA414795768 | MT-CO2 | c.683A>T (p.Ter228Leu) | |
| MT | m.8268_8276del | CA2740101866 | |||
| MT | m.8269G>A | CA913178846 | MT-CO2 | c.684G>A (p.Ter228=) | ClinVar dbSNP |
| MT | m.8269G>C | CA414795771 | MT-CO2 | c.684G>C (p.Ter228Tyr) | |
| MT | m.8269G= | CA2499565544 | MT-CO2 | c.684G= (p.Ter228=) | |
| MT | m.8269G>T | CA414795772 | MT-CO2 | c.684G>T (p.Ter228Tyr) | |
| MT | m.8269_8270insGGGGGGGGGGGGGGGG | CA2573104894 | |||
| MT | m.8269_8270del | CA2573104895 | |||
| MT | m.8269_8270dup | CA2740101867 | |||
| MT | m.8269_8276del | CA2740101868 | |||
| MT | m.8269_8277del | CA2740101869 | |||
| MT | m.8269_8278delinsGCACCCCCTC | CA2499565545 |