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.7735A= | CA2499565311 | MT-CO2 | c.150A= (p.Leu50=) | |
| MT | m.7735A>C | CA913177958 | MT-CO2 | c.150A>C (p.Leu50=) | |
| MT | m.7735A>G | CA913177959 | MT-CO2 | c.150A>G (p.Leu50=) | dbSNP |
| MT | m.7735A>T | CA913177960 | MT-CO2 | c.150A>T (p.Leu50=) | |
| MT | m.7736A= | CA2573328003 | MT-CO2 | c.151A= (p.Thr51=) | |
| MT | m.7736A>C | CA414793500 | MT-CO2 | c.151A>C (p.Thr51Pro) | |
| MT | m.7736A>G | CA414793501 | MT-CO2 | c.151A>G (p.Thr51Ala) | |
| MT | m.7736A>T | CA414793503 | MT-CO2 | c.151A>T (p.Thr51Ser) | |
| MT | m.7737C>A | CA414793509 | MT-CO2 | c.152C>A (p.Thr51Asn) | |
| MT | m.7737C= | CA2499565312 | MT-CO2 | c.152C= (p.Thr51=) | |
| MT | m.7737C>G | CA414793505 | MT-CO2 | c.152C>G (p.Thr51Ser) | |
| MT | m.7737C>T | CA414793507 | MT-CO2 | c.152C>T (p.Thr51Ile) | dbSNP |
| MT | m.7738T>A | CA913177966 | MT-CO2 | c.153T>A (p.Thr51=) | |
| MT | m.7738T>C | CA337097693 | MT-CO2 | c.153T>C (p.Thr51=) | dbSNP |
| MT | m.7738T>G | CA913177968 | MT-CO2 | c.153T>G (p.Thr51=) | |
| MT | m.7738T= | CA2499565313 | MT-CO2 | c.153T= (p.Thr51=) | |
| MT | m.7739A= | CA2573328008 | MT-CO2 | c.154A= (p.Asn52=) | |
| MT | m.7739A>C | CA414793513 | MT-CO2 | c.154A>C (p.Asn52His) | |
| MT | m.7739A>G | CA414793514 | MT-CO2 | c.154A>G (p.Asn52Asp) | |
| MT | m.7739A>T | CA414793515 | MT-CO2 | c.154A>T (p.Asn52Tyr) | |
| MT | m.7740A= | CA2499565314 | MT-CO2 | c.155A= (p.Asn52=) | |
| MT | m.7740A>C | CA414793517 | MT-CO2 | c.155A>C (p.Asn52Thr) | |
| MT | m.7740A>G | CA414793519 | MT-CO2 | c.155A>G (p.Asn52Ser) | dbSNP |
| MT | m.7740A>T | CA414793521 | MT-CO2 | c.155A>T (p.Asn52Ile) | |
| MT | m.7741T>A | CA414793523 | MT-CO2 | c.156T>A (p.Asn52Lys) | |
| MT | m.7741T>C | CA913177971 | MT-CO2 | c.156T>C (p.Asn52=) | dbSNP |
| MT | m.7741T>G | CA414793524 | MT-CO2 | c.156T>G (p.Asn52Lys) | |
| MT | m.7741T= | CA2499565315 | MT-CO2 | c.156T= (p.Asn52=) | |
| MT | m.7742A= | CA2573328016 | MT-CO2 | c.157A= (p.Thr53=) | |
| MT | m.7742A>C | CA414793527 | MT-CO2 | c.157A>C (p.Thr53Pro) | |
| MT | m.7742A>G | CA414793529 | MT-CO2 | c.157A>G (p.Thr53Ala) | |
| MT | m.7742A>T | CA414793530 | MT-CO2 | c.157A>T (p.Thr53Ser) | |
| MT | m.7744_7747del | CA2573104876 | MT-CO2 | c.159_162del (p.Asn54SerfsTer7) | |
| MT | m.7743C>A | CA414793532 | MT-CO2 | c.158C>A (p.Thr53Asn) | |
| MT | m.7743C= | CA2573328019 | MT-CO2 | c.158C= (p.Thr53=) | |
| MT | m.7743C>G | CA414793536 | MT-CO2 | c.158C>G (p.Thr53Ser) | |
| MT | m.7743C>T | CA414793534 | MT-CO2 | c.158C>T (p.Thr53Ile) | |
| MT | m.7744T>A | CA913177975 | MT-CO2 | c.159T>A (p.Thr53=) | |
| MT | m.7744T>C | CA913177974 | MT-CO2 | c.159T>C (p.Thr53=) | dbSNP |
| MT | m.7744T>G | CA913177973 | MT-CO2 | c.159T>G (p.Thr53=) | |
| MT | m.7744T= | CA2573328024 | MT-CO2 | c.159T= (p.Thr53=) | |
| MT | m.7745A= | CA2573328027 | MT-CO2 | c.160A= (p.Asn54=) | |
| MT | m.7745A>C | CA414793538 | MT-CO2 | c.160A>C (p.Asn54His) | |
| MT | m.7745A>G | CA414793540 | MT-CO2 | c.160A>G (p.Asn54Asp) | |
| MT | m.7745A>T | CA414793542 | MT-CO2 | c.160A>T (p.Asn54Tyr) | |
| MT | m.7746A= | CA2499565316 | MT-CO2 | c.161A= (p.Asn54=) | |
| MT | m.7746A>C | CA414793544 | MT-CO2 | c.161A>C (p.Asn54Thr) | |
| MT | m.7746A>G | CA414793545 | MT-CO2 | c.161A>G (p.Asn54Ser) | ClinVar dbSNP |
| MT | m.7746A>T | CA414793547 | MT-CO2 | c.161A>T (p.Asn54Ile) | |
| MT | m.7747C>A | CA414793549 | MT-CO2 | c.162C>A (p.Asn54Lys) | |
| MT | m.7747C= | CA2499565317 | MT-CO2 | c.162C= (p.Asn54=) | |
| MT | m.7747C>G | CA414793550 | MT-CO2 | c.162C>G (p.Asn54Lys) | |
| MT | m.7747C>T | CA337097695 | MT-CO2 | c.162C>T (p.Asn54=) | dbSNP |
| MT | m.7748A= | CA2573328041 | MT-CO2 | c.163A= (p.Ile55=) | |
| MT | m.7748A>C | CA414793553 | MT-CO2 | c.163A>C (p.Ile55Leu) | |
| MT | m.7748A>G | CA414793555 | MT-CO2 | c.163A>G (p.Ile55Val) | |
| MT | m.7748A>T | CA414793556 | MT-CO2 | c.163A>T (p.Ile55Phe) | |
| MT | m.7749T>A | CA414793561 | MT-CO2 | c.164T>A (p.Ile55Asn) | |
| MT | m.7749T>C | CA414793559 | MT-CO2 | c.164T>C (p.Ile55Thr) | |
| MT | m.7749T>G | CA414793560 | MT-CO2 | c.164T>G (p.Ile55Ser) | |
| MT | m.7749T= | CA2573328046 | MT-CO2 | c.164T= (p.Ile55=) | |
| MT | m.7750C>A | CA913177993 | MT-CO2 | c.165C>A (p.Ile55=) | |
| MT | m.7750C= | CA2573328049 | MT-CO2 | c.165C= (p.Ile55=) | |
| MT | m.7750C>G | CA414793563 | MT-CO2 | c.165C>G (p.Ile55Met) | |
| MT | m.7750C>T | CA913177991 | MT-CO2 | c.165C>T (p.Ile55=) | |
| MT | m.7751T>A | CA414793566 | MT-CO2 | c.166T>A (p.Ser56Thr) | dbSNP |
| MT | m.7751T>C | CA414793567 | MT-CO2 | c.166T>C (p.Ser56Pro) | |
| MT | m.7751T>G | CA414793569 | MT-CO2 | c.166T>G (p.Ser56Ala) | ClinVar dbSNP |
| MT | m.7751T= | CA2499565318 | MT-CO2 | c.166T= (p.Ser56=) | |
| MT | m.7752C>A | CA414793572 | MT-CO2 | c.167C>A (p.Ser56Ter) | |
| MT | m.7752C= | CA2573328054 | MT-CO2 | c.167C= (p.Ser56=) | |
| MT | m.7752C>G | CA414793573 | MT-CO2 | c.167C>G (p.Ser56Ter) | |
| MT | m.7752C>T | CA414793574 | MT-CO2 | c.167C>T (p.Ser56Leu) | |
| MT | m.7753A= | CA2573328057 | MT-CO2 | c.168A= (p.Ser56=) | |
| MT | m.7753A>C | CA913178000 | MT-CO2 | c.168A>C (p.Ser56=) | |
| MT | m.7753A>G | CA913178001 | MT-CO2 | c.168A>G (p.Ser56=) | |
| MT | m.7753A>T | CA913178002 | MT-CO2 | c.168A>T (p.Ser56=) | |
| MT | m.7754G>A | CA414793577 | MT-CO2 | c.169G>A (p.Asp57Asn) | ClinVar dbSNP |
| MT | m.7754G>C | CA414793579 | MT-CO2 | c.169G>C (p.Asp57His) | |
| MT | m.7754G= | CA2499565319 | MT-CO2 | c.169G= (p.Asp57=) | |
| MT | m.7754G>T | CA414793580 | MT-CO2 | c.169G>T (p.Asp57Tyr) | |
| MT | m.7755A= | CA2499565320 | MT-CO2 | c.170A= (p.Asp57=) | |
| MT | m.7755A>C | CA414793582 | MT-CO2 | c.170A>C (p.Asp57Ala) | dbSNP |
| MT | m.7755A>G | CA414793586 | MT-CO2 | c.170A>G (p.Asp57Gly) | |
| MT | m.7755A>T | CA414793584 | MT-CO2 | c.170A>T (p.Asp57Val) | |
| MT | m.7756C>A | CA414793587 | MT-CO2 | c.171C>A (p.Asp57Glu) | |
| MT | m.7756C= | CA2573328064 | MT-CO2 | c.171C= (p.Asp57=) | |
| MT | m.7756C>G | CA414793589 | MT-CO2 | c.171C>G (p.Asp57Glu) | |
| MT | m.7756C>T | CA913178011 | MT-CO2 | c.171C>T (p.Asp57=) | |
| MT | m.7757G>A | CA414793592 | MT-CO2 | c.172G>A (p.Ala58Thr) | ClinVar dbSNP |
| MT | m.7757G>C | CA414793593 | MT-CO2 | c.172G>C (p.Ala58Pro) | |
| MT | m.7757G= | CA2499565321 | MT-CO2 | c.172G= (p.Ala58=) | |
| MT | m.7757G>T | CA414793595 | MT-CO2 | c.172G>T (p.Ala58Ser) | |
| MT | m.7758C>A | CA414793597 | MT-CO2 | c.173C>A (p.Ala58Asp) | |
| MT | m.7758C= | CA2513608214 | MT-CO2 | c.173C= (p.Ala58=) | |
| MT | m.7758C>G | CA414793599 | MT-CO2 | c.173C>G (p.Ala58Gly) | |
| MT | m.7758C>T | CA414793601 | MT-CO2 | c.173C>T (p.Ala58Val) | |
| MT | m.7759T>A | CA913178015 | MT-CO2 | c.174T>A (p.Ala58=) | |
| MT | m.7759T>C | CA913178014 | MT-CO2 | c.174T>C (p.Ala58=) | dbSNP |
| MT | m.7759T>G | CA913178013 | MT-CO2 | c.174T>G (p.Ala58=) | |
| MT | m.7759T= | CA2499565322 | MT-CO2 | c.174T= (p.Ala58=) | |
| MT | m.7760C>A | CA414793602 | MT-CO2 | c.175C>A (p.Gln59Lys) | |
| MT | m.7760C= | CA2573328073 | MT-CO2 | c.175C= (p.Gln59=) | |
| MT | m.7760C>G | CA414793604 | MT-CO2 | c.175C>G (p.Gln59Glu) | |
| MT | m.7760C>T | CA414793606 | MT-CO2 | c.175C>T (p.Gln59Ter) | |
| MT | m.7761A= | CA2499565323 | MT-CO2 | c.176A= (p.Gln59=) | |
| MT | m.7761A>C | CA414793607 | MT-CO2 | c.176A>C (p.Gln59Pro) | |
| MT | m.7761A>G | CA414793609 | MT-CO2 | c.176A>G (p.Gln59Arg) | ClinVar dbSNP |
| MT | m.7761A>T | CA414793611 | MT-CO2 | c.176A>T (p.Gln59Leu) | |
| MT | m.7762G>A | CA913178028 | MT-CO2 | c.177G>A (p.Gln59=) | dbSNP |
| MT | m.7762G>C | CA414793613 | MT-CO2 | c.177G>C (p.Gln59His) | |
| MT | m.7762G= | CA2499565324 | MT-CO2 | c.177G= (p.Gln59=) | |
| MT | m.7762G>T | CA414793614 | MT-CO2 | c.177G>T (p.Gln59His) | |
| MT | m.7763G>A | CA414793616 | MT-CO2 | c.178G>A (p.Glu60Lys) | dbSNP |
| MT | m.7763G>C | CA414793618 | MT-CO2 | c.178G>C (p.Glu60Gln) | |
| MT | m.7763G= | CA2573328081 | MT-CO2 | c.178G= (p.Glu60=) | |
| MT | m.7763G>T | CA414793620 | MT-CO2 | c.178G>T (p.Glu60Ter) | |
| MT | m.7764A= | CA2573328083 | MT-CO2 | c.179A= (p.Glu60=) | |
| MT | m.7764A>C | CA414793622 | MT-CO2 | c.179A>C (p.Glu60Ala) | |
| MT | m.7764A>G | CA414793623 | MT-CO2 | c.179A>G (p.Glu60Gly) | |
| MT | m.7764A>T | CA414793625 | MT-CO2 | c.179A>T (p.Glu60Val) | |
| MT | m.7765A= | CA2499565325 | MT-CO2 | c.180A= (p.Glu60=) | |
| MT | m.7765A>C | CA414793627 | MT-CO2 | c.180A>C (p.Glu60Asp) | |
| MT | m.7765A>G | CA337097697 | MT-CO2 | c.180A>G (p.Glu60=) | dbSNP |
| MT | m.7765A>T | CA414793630 | MT-CO2 | c.180A>T (p.Glu60Asp) | |
| MT | m.7766A= | CA2573328089 | MT-CO2 | c.181A= (p.Ile61=) | |
| MT | m.7766A>C | CA414793633 | MT-CO2 | c.181A>C (p.Ile61Leu) | |
| MT | m.7766A>G | CA414793635 | MT-CO2 | c.181A>G (p.Ile61Val) | |
| MT | m.7766A>T | CA414793636 | MT-CO2 | c.181A>T (p.Ile61Leu) | |
| MT | m.7767T>A | CA414793642 | MT-CO2 | c.182T>A (p.Ile61Lys) | |
| MT | m.7767T>C | CA414793639 | MT-CO2 | c.182T>C (p.Ile61Thr) | |
| MT | m.7767T>G | CA414793641 | MT-CO2 | c.182T>G (p.Ile61Arg) | |
| MT | m.7767T= | CA2573328091 | MT-CO2 | c.182T= (p.Ile61=) | |
| MT | m.7768A= | CA2499565326 | MT-CO2 | c.183A= (p.Ile61=) | |
| MT | m.7768A>C | CA913178044 | MT-CO2 | c.183A>C (p.Ile61=) | |
| MT | m.7768A>G | CA337097699 | MT-CO2 | c.183A>G (p.Ile61Met) | dbSNP |
| MT | m.7768A>T | CA913178045 | MT-CO2 | c.183A>T (p.Ile61=) | |
| MT | m.7769G>A | CA414793646 | MT-CO2 | c.184G>A (p.Glu62Lys) | dbSNP |
| MT | m.7769G>C | CA414793648 | MT-CO2 | c.184G>C (p.Glu62Gln) | |
| MT | m.7769G= | CA2573328092 | MT-CO2 | c.184G= (p.Glu62=) | |
| MT | m.7769G>T | CA414793650 | MT-CO2 | c.184G>T (p.Glu62Ter) | |
| MT | m.7769dup | CA2740098142 | MT-CO2 | c.184dup (p.Glu62GlyfsTer?) | |
| MT | m.7770A= | CA2573328095 | MT-CO2 | c.185A= (p.Glu62=) | |
| MT | m.7770A>C | CA414793652 | MT-CO2 | c.185A>C (p.Glu62Ala) | |
| MT | m.7770A>G | CA414793654 | MT-CO2 | c.185A>G (p.Glu62Gly) | |
| MT | m.7770A>T | CA414793656 | MT-CO2 | c.185A>T (p.Glu62Val) | |
| MT | m.7770_7771insT | CA2573104877 | MT-CO2 | c.185_186insT (p.Glu62AspfsTer?) | |
| MT | m.7771A= | CA2499565327 | MT-CO2 | c.186A= (p.Glu62=) | |
| MT | m.7771A>C | CA414793658 | MT-CO2 | c.186A>C (p.Glu62Asp) | |
| MT | m.7771A>G | CA337097701 | MT-CO2 | c.186A>G (p.Glu62=) | ClinVar dbSNP |
| MT | m.7771A>T | CA414793660 | MT-CO2 | c.186A>T (p.Glu62Asp) | |
| MT | m.7772A= | CA2499565328 | MT-CO2 | c.187A= (p.Thr63=) | |
| MT | m.7772A>C | CA414793663 | MT-CO2 | c.187A>C (p.Thr63Pro) | |
| MT | m.7772A>G | CA414793664 | MT-CO2 | c.187A>G (p.Thr63Ala) | ClinVar dbSNP |
| MT | m.7772A>T | CA414793666 | MT-CO2 | c.187A>T (p.Thr63Ser) | |
| MT | m.7773C>A | CA414793669 | MT-CO2 | c.188C>A (p.Thr63Asn) | |
| MT | m.7773C= | CA2499565329 | MT-CO2 | c.188C= (p.Thr63=) | |
| MT | m.7773C>G | CA414793672 | MT-CO2 | c.188C>G (p.Thr63Ser) | |
| MT | m.7773C>T | CA414793670 | MT-CO2 | c.188C>T (p.Thr63Ile) | dbSNP |
| MT | m.7774C>A | CA913178054 | MT-CO2 | c.189C>A (p.Thr63=) | |
| MT | m.7774C= | CA2499565330 | MT-CO2 | c.189C= (p.Thr63=) | |
| MT | m.7774C>G | CA913178056 | MT-CO2 | c.189C>G (p.Thr63=) | |
| MT | m.7774C>T | CA913178057 | MT-CO2 | c.189C>T (p.Thr63=) | dbSNP |
| MT | m.7775G>A | CA414793674 | MT-CO2 | c.190G>A (p.Val64Ile) | ClinVar dbSNP |
| MT | m.7775G>C | CA414793676 | MT-CO2 | c.190G>C (p.Val64Leu) | |
| MT | m.7775G= | CA2499565331 | MT-CO2 | c.190G= (p.Val64=) | |
| MT | m.7775G>T | CA414793677 | MT-CO2 | c.190G>T (p.Val64Phe) | |
| MT | m.7776T>A | CA414793680 | MT-CO2 | c.191T>A (p.Val64Asp) | |
| MT | m.7776T>C | CA414793682 | MT-CO2 | c.191T>C (p.Val64Ala) | |
| MT | m.7776T>G | CA414793684 | MT-CO2 | c.191T>G (p.Val64Gly) | |
| MT | m.7776T= | CA2573328102 | MT-CO2 | c.191T= (p.Val64=) | |
| MT | m.7777C>A | CA913178059 | MT-CO2 | c.192C>A (p.Val64=) | |
| MT | m.7777C= | CA2573328104 | MT-CO2 | c.192C= (p.Val64=) | |
| MT | m.7777C>G | CA913178060 | MT-CO2 | c.192C>G (p.Val64=) | |
| MT | m.7777C>T | CA913178061 | MT-CO2 | c.192C>T (p.Val64=) | |
| MT | m.7778T>A | CA414793687 | MT-CO2 | c.193T>A (p.Ter65Arg) | |
| MT | m.7778T>C | CA414793688 | MT-CO2 | c.193T>C (p.Ter65Arg) | |
| MT | m.7778T>G | CA414793690 | MT-CO2 | c.193T>G (p.Ter65Gly) | |
| MT | m.7778T= | CA414793692 | MT-CO2 | c.193T= (p.Ter65=) | |
| MT | m.7779G>A | CA414793694 | MT-CO2 | c.194G>A (p.Ter65=) | dbSNP |
| MT | m.7779G>C | CA414793698 | MT-CO2 | c.194G>C (p.Ter65Ser) | |
| MT | m.7779G= | CA414793700 | MT-CO2 | c.194G= (p.Ter65=) | |
| MT | m.7779G>T | CA414793696 | MT-CO2 | c.194G>T (p.Ter65Leu) | |
| MT | m.7780A= | CA414793707 | MT-CO2 | c.195A= (p.Ter65=) | |
| MT | m.7780A>C | CA414793702 | MT-CO2 | c.195A>C (p.Ter65Cys) | |
| MT | m.7780A>G | CA414793704 | MT-CO2 | c.195A>G (p.Ter65Trp) | dbSNP |
| MT | m.7780A>T | CA414793706 | MT-CO2 | c.195A>T (p.Ter65Cys) | |
| MT | m.7780_7781insGATGTTAGTATTAGTTAGTTTTGTTGTGAGTGTTAGGAAAAGGGCATACAGGACTAGGAAGCAGATAAGGAAAATGATTATGAGGGCGTGATCATGAAAGGTGATAAGCTCTTCTATGATAGGGGAAGTAGCGTCTTGTAGACCTACTTGCGCTGCATGTGCCATTAAGATATATAGGATTTAGCCTATAATTTAACTTTGACAAAGTTATGAAATGGTTTTTCTAAT | CA2573104878 | MT-CO2 | c.195_196insGATGTTAGTATTAGTTAGTTTTGTTGTGAGTGTTAGGAAAAGGGCATACAGGACTAGGAAGCAGATAAGGAAAATGATTATGAGGGCGTGATCATGAAAGGTGATAAGCTCTTCTATGATAGGGGAAGTAGCGTCTTGTAGACCTACTTGCGCTGCATGTGCCATTAAGATATATAGGATTTAGCCTATAATTTAACTTTGACAAAGTTATGAAATGGTTTTTCTAAT | |
| MT | m.7781A= | CA913178069 | MT-CO2 | c.196A= (p.Thr66=) | |
| MT | m.7781A>C | CA414793710 | MT-CO2 | c.196A>C (p.Thr66Pro) | |
| MT | m.7781A>G | CA414793711 | MT-CO2 | c.196A>G (p.Thr66Ala) | |
| MT | m.7781A>T | CA414793713 | MT-CO2 | c.196A>T (p.Thr66Ser) | |
| MT | m.7782C>A | CA414793716 | MT-CO2 | c.197C>A (p.Thr66Asn) | |
| MT | m.7782C= | CA2513217945 | MT-CO2 | c.197C= (p.Thr66=) | |
| MT | m.7782C>G | CA414793717 | MT-CO2 | c.197C>G (p.Thr66Ser) | |
| MT | m.7782C>T | CA414793718 | MT-CO2 | c.197C>T (p.Thr66Ile) | |
| MT | m.7783del | CA2573104879 | MT-CO2 | c.198del (p.Ile67SerfsTer7) | |
| MT | m.7783T>A | CA913178072 | MT-CO2 | c.198T>A (p.Thr66=) | |
| MT | m.7783T>C | CA913178073 | MT-CO2 | c.198T>C (p.Thr66=) | dbSNP |
| MT | m.7783T>G | CA913178074 | MT-CO2 | c.198T>G (p.Thr66=) | |
| MT | m.7783T= | CA2499565332 | MT-CO2 | c.198T= (p.Thr66=) | |
| MT | m.7784A= | CA2499565333 | MT-CO2 | c.199A= (p.Ile67=) | |
| MT | m.7784A>C | CA414793720 | MT-CO2 | c.199A>C (p.Ile67Leu) | |
| MT | m.7784A>G | CA414793722 | MT-CO2 | c.199A>G (p.Ile67Val) | ClinVar dbSNP |
| MT | m.7784A>T | CA414793724 | MT-CO2 | c.199A>T (p.Ile67Phe) | |
| MT | m.7785T>A | CA414793726 | MT-CO2 | c.200T>A (p.Ile67Asn) | |
| MT | m.7785T>C | CA414793730 | MT-CO2 | c.200T>C (p.Ile67Thr) | ClinVar dbSNP |
| MT | m.7785T>G | CA414793728 | MT-CO2 | c.200T>G (p.Ile67Ser) | |
| MT | m.7785T= | CA2499565334 | MT-CO2 | c.200T= (p.Ile67=) | |
| MT | m.7786C>A | CA913178078 | MT-CO2 | c.201C>A (p.Ile67=) | |
| MT | m.7786C= | CA2573328116 | MT-CO2 | c.201C= (p.Ile67=) | |
| MT | m.7786C>G | CA414793732 | MT-CO2 | c.201C>G (p.Ile67Met) | |
| MT | m.7786C>T | CA913178079 | MT-CO2 | c.201C>T (p.Ile67=) | dbSNP |
| MT | m.7787C>A | CA414793734 | MT-CO2 | c.202C>A (p.Leu68Met) | |
| MT | m.7787C= | CA2573328118 | MT-CO2 | c.202C= (p.Leu68=) | |
| MT | m.7787C>G | CA414793736 | MT-CO2 | c.202C>G (p.Leu68Val) | |
| MT | m.7787C>T | CA913178081 | MT-CO2 | c.202C>T (p.Leu68=) | |
| MT | m.7788T>A | CA414793739 | MT-CO2 | c.203T>A (p.Leu68Gln) | |
| MT | m.7788T>C | CA414793740 | MT-CO2 | c.203T>C (p.Leu68Pro) | |
| MT | m.7788T>G | CA414793742 | MT-CO2 | c.203T>G (p.Leu68Arg) | |
| MT | m.7788T= | CA2573328121 | MT-CO2 | c.203T= (p.Leu68=) | |
| MT | m.7789G>A | CA16603204 | MT-CO2 | c.204G>A (p.Leu68=) | ClinVar dbSNP |
| MT | m.7789G>C | CA337097702 | MT-CO2 | c.204G>C (p.Leu68=) | |
| MT | m.7789G= | CA2499565335 | MT-CO2 | c.204G= (p.Leu68=) | |
| MT | m.7789G>T | CA337097703 | MT-CO2 | c.204G>T (p.Leu68=) | |
| MT | m.7790C>A | CA414793752 | MT-CO2 | c.205C>A (p.Pro69Thr) | |
| MT | m.7790C= | CA2573328128 | MT-CO2 | c.205C= (p.Pro69=) | |
| MT | m.7790C>G | CA414793750 | MT-CO2 | c.205C>G (p.Pro69Ala) | |
| MT | m.7790C>T | CA414793748 | MT-CO2 | c.205C>T (p.Pro69Ser) | |
| MT | m.7790_7791insTCC | CA913190822 | MT-CO2 | c.205_206insTCC (p.Leu68_Pro69insLeu) | ClinVar dbSNP |
| MT | m.7791C>A | CA414793754 | MT-CO2 | c.206C>A (p.Pro69His) | |
| MT | m.7791C= | CA2573328131 | MT-CO2 | c.206C= (p.Pro69=) | |
| MT | m.7791C>G | CA414793756 | MT-CO2 | c.206C>G (p.Pro69Arg) | |
| MT | m.7791C>T | CA414793758 | MT-CO2 | c.206C>T (p.Pro69Leu) | |
| MT | m.7792C>A | CA913178105 | MT-CO2 | c.207C>A (p.Pro69=) | |
| MT | m.7792C= | CA2499565336 | MT-CO2 | c.207C= (p.Pro69=) | |
| MT | m.7792C>G | CA913178107 | MT-CO2 | c.207C>G (p.Pro69=) | |
| MT | m.7792C>T | CA913178115 | MT-CO2 | c.207C>T (p.Pro69=) | dbSNP |
| MT | m.7793G>A | CA414793760 | MT-CO2 | c.208G>A (p.Ala70Thr) | dbSNP |
| MT | m.7793G>C | CA414793762 | MT-CO2 | c.208G>C (p.Ala70Pro) | |
| MT | m.7793G= | CA2573328135 | MT-CO2 | c.208G= (p.Ala70=) | |
| MT | m.7793G>T | CA414793764 | MT-CO2 | c.208G>T (p.Ala70Ser) | |
| MT | m.7794C>A | CA414793766 | MT-CO2 | c.209C>A (p.Ala70Asp) | |
| MT | m.7794C= | CA2573328139 | MT-CO2 | c.209C= (p.Ala70=) | |
| MT | m.7794C>G | CA414793768 | MT-CO2 | c.209C>G (p.Ala70Gly) | |
| MT | m.7794C>T | CA414793769 | MT-CO2 | c.209C>T (p.Ala70Val) | |
| MT | m.7795C>A | CA913178120 | MT-CO2 | c.210C>A (p.Ala70=) | |
| MT | m.7795C= | CA2573328140 | MT-CO2 | c.210C= (p.Ala70=) | |
| MT | m.7795C>G | CA913178121 | MT-CO2 | c.210C>G (p.Ala70=) | |
| MT | m.7795C>T | CA913178122 | MT-CO2 | c.210C>T (p.Ala70=) | dbSNP |
| MT | m.7796A= | CA2499565337 | MT-CO2 | c.211A= (p.Ile71=) | |
| MT | m.7796A>C | CA414793772 | MT-CO2 | c.211A>C (p.Ile71Leu) | dbSNP |
| MT | m.7796A>G | CA414793774 | MT-CO2 | c.211A>G (p.Ile71Val) | ClinVar dbSNP |
| MT | m.7796A>T | CA414793775 | MT-CO2 | c.211A>T (p.Ile71Phe) | |
| MT | m.7796_7800del | CA2573104880 | MT-CO2 | c.211_215del (p.Ile71ProfsTer?) | |
| MT | m.7797T>A | CA414793781 | MT-CO2 | c.212T>A (p.Ile71Asn) | |
| MT | m.7797T>C | CA414793777 | MT-CO2 | c.212T>C (p.Ile71Thr) | ClinVar dbSNP |
| MT | m.7797T>G | CA414793779 | MT-CO2 | c.212T>G (p.Ile71Ser) | |
| MT | m.7797T= | CA2499565338 | MT-CO2 | c.212T= (p.Ile71=) | |
| MT | m.7798C>A | CA913178149 | MT-CO2 | c.213C>A (p.Ile71=) | |
| MT | m.7798C= | CA2573328153 | MT-CO2 | c.213C= (p.Ile71=) | |
| MT | m.7798C>G | CA414793783 | MT-CO2 | c.213C>G (p.Ile71Met) | |
| MT | m.7798C>T | CA913178144 | MT-CO2 | c.213C>T (p.Ile71=) | dbSNP |
| MT | m.7799A= | CA2573328155 | MT-CO2 | c.214A= (p.Ile72=) | |
| MT | m.7799A>C | CA414793785 | MT-CO2 | c.214A>C (p.Ile72Leu) | |
| MT | m.7799A>G | CA414793787 | MT-CO2 | c.214A>G (p.Ile72Val) | |
| MT | m.7799A>T | CA414793789 | MT-CO2 | c.214A>T (p.Ile72Phe) | |
| MT | m.7800T>A | CA414793791 | MT-CO2 | c.215T>A (p.Ile72Asn) | |
| MT | m.7800T>C | CA414793792 | MT-CO2 | c.215T>C (p.Ile72Thr) | |
| MT | m.7800T>G | CA414793794 | MT-CO2 | c.215T>G (p.Ile72Ser) | |
| MT | m.7800T= | CA2573328158 | MT-CO2 | c.215T= (p.Ile72=) | |
| MT | m.7801C>A | CA913178161 | MT-CO2 | c.216C>A (p.Ile72=) | |
| MT | m.7801C= | CA2573328160 | MT-CO2 | c.216C= (p.Ile72=) | |
| MT | m.7801C>G | CA414793796 | MT-CO2 | c.216C>G (p.Ile72Met) | |
| MT | m.7801C>T | CA913178158 | MT-CO2 | c.216C>T (p.Ile72=) | |
| MT | m.7802C>A | CA414793798 | MT-CO2 | c.217C>A (p.Leu73Ile) | |
| MT | m.7802C= | CA2573328162 | MT-CO2 | c.217C= (p.Leu73=) | |
| MT | m.7802C>G | CA414793800 | MT-CO2 | c.217C>G (p.Leu73Val) | |
| MT | m.7802C>T | CA913178166 | MT-CO2 | c.217C>T (p.Leu73=) | |
| MT | m.7803T>A | CA414793802 | MT-CO2 | c.218T>A (p.Leu73Gln) | |
| MT | m.7803T>C | CA414793806 | MT-CO2 | c.218T>C (p.Leu73Pro) | |
| MT | m.7803T>G | CA414793804 | MT-CO2 | c.218T>G (p.Leu73Arg) | |
| MT | m.7803T= | CA2573328165 | MT-CO2 | c.218T= (p.Leu73=) | |
| MT | m.7803_7804del | CA2573104881 | MT-CO2 | c.218_219del (p.Leu73ArgfsTer?) | |
| MT | m.7803_7806del | CA2573104882 | MT-CO2 | c.218_221del (p.Leu73ProfsTer13) | |
| MT | m.7804A= | CA2499565339 | MT-CO2 | c.219A= (p.Leu73=) | |
| MT | m.7804A>C | CA913178168 | MT-CO2 | c.219A>C (p.Leu73=) | |
| MT | m.7804A>G | CA913178169 | MT-CO2 | c.219A>G (p.Leu73=) | dbSNP |
| MT | m.7804A>T | CA913178170 | MT-CO2 | c.219A>T (p.Leu73=) | |
| MT | m.7805G>A | CA337097704 | MT-CO2 | c.220G>A (p.Val74Ile) | ClinVar dbSNP COSMIC |
| MT | m.7805G>C | CA414793811 | MT-CO2 | c.220G>C (p.Val74Leu) | |
| MT | m.7805G= | CA2499565340 | MT-CO2 | c.220G= (p.Val74=) | |
| MT | m.7805G>T | CA414793809 | MT-CO2 | c.220G>T (p.Val74Phe) | |
| MT | m.7806T>A | CA414793814 | MT-CO2 | c.221T>A (p.Val74Asp) | dbSNP |
| MT | m.7806T>C | CA414793817 | MT-CO2 | c.221T>C (p.Val74Ala) | ClinVar dbSNP |
| MT | m.7806T>G | CA414793815 | MT-CO2 | c.221T>G (p.Val74Gly) | |
| MT | m.7806T= | CA2499565341 | MT-CO2 | c.221T= (p.Val74=) | |
| MT | m.7807C>A | CA913178178 | MT-CO2 | c.222C>A (p.Val74=) | |
| MT | m.7807C= | CA2573328178 | MT-CO2 | c.222C= (p.Val74=) | |
| MT | m.7807C>G | CA913178177 | MT-CO2 | c.222C>G (p.Val74=) | |
| MT | m.7807C>T | CA913178176 | MT-CO2 | c.222C>T (p.Val74=) | |
| MT | m.7808C>A | CA414793819 | MT-CO2 | c.223C>A (p.Leu75Ile) | |
| MT | m.7808C= | CA2499565342 | MT-CO2 | c.223C= (p.Leu75=) | |
| MT | m.7808C>G | CA414793822 | MT-CO2 | c.223C>G (p.Leu75Val) | |
| MT | m.7808C>T | CA414793821 | MT-CO2 | c.223C>T (p.Leu75Phe) | ClinVar dbSNP |
| MT | m.7809T>A | CA414793824 | MT-CO2 | c.224T>A (p.Leu75His) | |
| MT | m.7809T>C | CA414793826 | MT-CO2 | c.224T>C (p.Leu75Pro) | |
| MT | m.7809T>G | CA414793828 | MT-CO2 | c.224T>G (p.Leu75Arg) | |
| MT | m.7809T= | CA2573328182 | MT-CO2 | c.224T= (p.Leu75=) | |
| MT | m.7810C>A | CA913178183 | MT-CO2 | c.225C>A (p.Leu75=) | |
| MT | m.7810C= | CA2499565343 | MT-CO2 | c.225C= (p.Leu75=) | |
| MT | m.7810C>G | CA913178185 | MT-CO2 | c.225C>G (p.Leu75=) | |
| MT | m.7810C>T | CA645611390 | MT-CO2 | c.225C>T (p.Leu75=) | dbSNP COSMIC |
| MT | m.7811A= | CA2499565344 | MT-CO2 | c.226A= (p.Ile76=) | |
| MT | m.7811A>C | CA414793831 | MT-CO2 | c.226A>C (p.Ile76Leu) | |
| MT | m.7811A>G | CA414793832 | MT-CO2 | c.226A>G (p.Ile76Val) | ClinVar dbSNP |
| MT | m.7811A>T | CA414793834 | MT-CO2 | c.226A>T (p.Ile76Phe) | |
| MT | m.7811_7812del | CA2573104883 | MT-CO2 | c.226_227del (p.Ile76ArgfsTer?) | |
| MT | m.7812T>A | CA414793836 | MT-CO2 | c.227T>A (p.Ile76Asn) | |
| MT | m.7812T>C | CA414793838 | MT-CO2 | c.227T>C (p.Ile76Thr) | |
| MT | m.7812T>G | CA414793840 | MT-CO2 | c.227T>G (p.Ile76Ser) | |
| MT | m.7812T= | CA2573328186 | MT-CO2 | c.227T= (p.Ile76=) | |
| MT | m.7813C>A | CA913178189 | MT-CO2 | c.228C>A (p.Ile76=) | |
| MT | m.7813C= | CA2499565345 | MT-CO2 | c.228C= (p.Ile76=) | |
| MT | m.7813C>G | CA414793842 | MT-CO2 | c.228C>G (p.Ile76Met) | |
| MT | m.7813C>T | CA913178190 | MT-CO2 | c.228C>T (p.Ile76=) | dbSNP |
| MT | m.7814G>A | CA414793848 | MT-CO2 | c.229G>A (p.Ala77Thr) | ClinVar dbSNP COSMIC |
| MT | m.7814G>C | CA414793844 | MT-CO2 | c.229G>C (p.Ala77Pro) | |
| MT | m.7814G= | CA2499565346 | MT-CO2 | c.229G= (p.Ala77=) | |
| MT | m.7814G>T | CA414793846 | MT-CO2 | c.229G>T (p.Ala77Ser) | |
| MT | m.7815C>A | CA414793850 | MT-CO2 | c.230C>A (p.Ala77Asp) | |
| MT | m.7815C= | CA2573328193 | MT-CO2 | c.230C= (p.Ala77=) | |
| MT | m.7815C>G | CA414793852 | MT-CO2 | c.230C>G (p.Ala77Gly) | |
| MT | m.7815C>T | CA414793853 | MT-CO2 | c.230C>T (p.Ala77Val) | |
| MT | m.7815_7817dup | CA913190823 | MT-CO2 | c.230_232dup (p.Ala77_Leu78insPro) | ClinVar dbSNP |
| MT | m.7815_7816insTGGTAACCAATATCCTACTCTTT | CA2740098143 | MT-CO2 | c.230_231insTGGTAACCAATATCCTACTCTTT (p.Leu78GlyfsTer17) | |
| MT | m.7816C>A | CA913178195 | MT-CO2 | c.231C>A (p.Ala77=) | |
| MT | m.7816C= | CA2499565347 | MT-CO2 | c.231C= (p.Ala77=) | |
| MT | m.7816C>G | CA913178196 | MT-CO2 | c.231C>G (p.Ala77=) | |
| MT | m.7816C>T | CA913178197 | MT-CO2 | c.231C>T (p.Ala77=) | dbSNP |
| MT | m.7817C>A | CA414793856 | MT-CO2 | c.232C>A (p.Leu78Ile) | |
| MT | m.7817C= | CA2499565348 | MT-CO2 | c.232C= (p.Leu78=) | |
| MT | m.7817C>G | CA414793857 | MT-CO2 | c.232C>G (p.Leu78Val) | |
| MT | m.7817C>T | CA414793859 | MT-CO2 | c.232C>T (p.Leu78Phe) | dbSNP |
| MT | m.7818T>A | CA414793862 | MT-CO2 | c.233T>A (p.Leu78His) | |
| MT | m.7818T>C | CA414793863 | MT-CO2 | c.233T>C (p.Leu78Pro) | |
| MT | m.7818T>G | CA414793865 | MT-CO2 | c.233T>G (p.Leu78Arg) | |
| MT | m.7818T= | CA2573328201 | MT-CO2 | c.233T= (p.Leu78=) | |
| MT | m.7819C>A | CA10581294 | MT-CO2 | c.234C>A (p.Leu78=) | ClinVar dbSNP |
| MT | m.7819C= | CA2499565349 | MT-CO2 | c.234C= (p.Leu78=) | |
| MT | m.7819C>G | CA913178200 | MT-CO2 | c.234C>G (p.Leu78=) | |
| MT | m.7819C>T | CA913178201 | MT-CO2 | c.234C>T (p.Leu78=) | |
| MT | m.7820C>A | CA414793871 | MT-CO2 | c.235C>A (p.Pro79Thr) | COSMIC |
| MT | m.7820C= | CA2573328205 | MT-CO2 | c.235C= (p.Pro79=) | |
| MT | m.7820C>G | CA414793869 | MT-CO2 | c.235C>G (p.Pro79Ala) | |
| MT | m.7820C>T | CA414793868 | MT-CO2 | c.235C>T (p.Pro79Ser) | |
| MT | m.7821C>A | CA414793877 | MT-CO2 | c.236C>A (p.Pro79Gln) | |
| MT | m.7821C= | CA2573328208 | MT-CO2 | c.236C= (p.Pro79=) | |
| MT | m.7821C>G | CA414793874 | MT-CO2 | c.236C>G (p.Pro79Arg) | |
| MT | m.7821C>T | CA414793875 | MT-CO2 | c.236C>T (p.Pro79Leu) | |
| MT | m.7822A= | CA2499565350 | MT-CO2 | c.237A= (p.Pro79=) | |
| MT | m.7822A>C | CA913178209 | MT-CO2 | c.237A>C (p.Pro79=) | |
| MT | m.7822A>G | CA913178208 | MT-CO2 | c.237A>G (p.Pro79=) | dbSNP |
| MT | m.7822A>T | CA913178207 | MT-CO2 | c.237A>T (p.Pro79=) | |
| MT | m.7822_7823del | CA2573104884 | MT-CO2 | c.237_238del (p.Ser80ProfsTer?) | |
| MT | m.7822_7823insATTTCATATCTATTATT | CA2740098144 | MT-CO2 | c.237_238insATTTCATATCTATTATT (p.Ser80IlefsTer13) | |
| MT | m.7823T>A | CA414793880 | MT-CO2 | c.238T>A (p.Ser80Thr) | |
| MT | m.7823T>C | CA414793881 | MT-CO2 | c.238T>C (p.Ser80Pro) | |
| MT | m.7823T>G | CA414793882 | MT-CO2 | c.238T>G (p.Ser80Ala) | |
| MT | m.7823T= | CA2573328211 | MT-CO2 | c.238T= (p.Ser80=) | |
| MT | m.7824C>A | CA414793885 | MT-CO2 | c.239C>A (p.Ser80Tyr) | |
| MT | m.7824C= | CA2573328213 | MT-CO2 | c.239C= (p.Ser80=) | |
| MT | m.7824C>G | CA414793887 | MT-CO2 | c.239C>G (p.Ser80Cys) | |
| MT | m.7824C>T | CA414793888 | MT-CO2 | c.239C>T (p.Ser80Phe) | |
| MT | m.7825C>A | CA913178220 | MT-CO2 | c.240C>A (p.Ser80=) | |
| MT | m.7825C= | CA2499565351 | MT-CO2 | c.240C= (p.Ser80=) | |
| MT | m.7825C>G | CA913178217 | MT-CO2 | c.240C>G (p.Ser80=) | |
| MT | m.7825C>T | CA913178214 | MT-CO2 | c.240C>T (p.Ser80=) | dbSNP |
| MT | m.7826C>A | CA414793891 | MT-CO2 | c.241C>A (p.Leu81Ile) | |
| MT | m.7826C= | CA2573328219 | MT-CO2 | c.241C= (p.Leu81=) | |
| MT | m.7826C>G | CA414793892 | MT-CO2 | c.241C>G (p.Leu81Val) | |
| MT | m.7826C>T | CA913178222 | MT-CO2 | c.241C>T (p.Leu81=) | |
| MT | m.7827T>A | CA414793894 | MT-CO2 | c.242T>A (p.Leu81Gln) | |
| MT | m.7827T>C | CA414793896 | MT-CO2 | c.242T>C (p.Leu81Pro) | |
| MT | m.7827T>G | CA414793898 | MT-CO2 | c.242T>G (p.Leu81Arg) | |
| MT | m.7827T= | CA2573328224 | MT-CO2 | c.242T= (p.Leu81=) | |
| MT | m.7828A= | CA2499565352 | MT-CO2 | c.243A= (p.Leu81=) | |
| MT | m.7828A>C | CA913178227 | MT-CO2 | c.243A>C (p.Leu81=) | |
| MT | m.7828A>G | CA913178228 | MT-CO2 | c.243A>G (p.Leu81=) | dbSNP |
| MT | m.7828A>T | CA913178229 | MT-CO2 | c.243A>T (p.Leu81=) | |
| MT | m.7829C>A | CA414793901 | MT-CO2 | c.244C>A (p.Arg82Ser) | |
| MT | m.7829C= | CA2573328226 | MT-CO2 | c.244C= (p.Arg82=) | |
| MT | m.7829C>G | CA414793904 | MT-CO2 | c.244C>G (p.Arg82Gly) | |
| MT | m.7829C>T | CA414793902 | MT-CO2 | c.244C>T (p.Arg82Cys) | |
| MT | m.7830G>A | CA337097705 | MT-CO2 | c.245G>A (p.Arg82His) | ClinVar dbSNP COSMIC |
| MT | m.7830G>C | CA414793907 | MT-CO2 | c.245G>C (p.Arg82Pro) | |
| MT | m.7830G= | CA2499565353 | MT-CO2 | c.245G= (p.Arg82=) | |
| MT | m.7830G>T | CA414793908 | MT-CO2 | c.245G>T (p.Arg82Leu) | |
| MT | m.7831C>A | CA913178235 | MT-CO2 | c.246C>A (p.Arg82=) | |
| MT | m.7831C= | CA2499565354 | MT-CO2 | c.246C= (p.Arg82=) | |
| MT | m.7831C>G | CA913178239 | MT-CO2 | c.246C>G (p.Arg82=) | |
| MT | m.7831C>T | CA913178241 | MT-CO2 | c.246C>T (p.Arg82=) | dbSNP |
| MT | m.7832A= | CA2499565355 | MT-CO2 | c.247A= (p.Ile83=) | |
| MT | m.7832A>C | CA414793911 | MT-CO2 | c.247A>C (p.Ile83Leu) | |
| MT | m.7832A>G | CA414793913 | MT-CO2 | c.247A>G (p.Ile83Val) | dbSNP |
| MT | m.7832A>T | CA414793914 | MT-CO2 | c.247A>T (p.Ile83Phe) | |
| MT | m.7833T>A | CA414793917 | MT-CO2 | c.248T>A (p.Ile83Asn) | |
| MT | m.7833T>C | CA414793918 | MT-CO2 | c.248T>C (p.Ile83Thr) | ClinVar dbSNP |
| MT | m.7833T>G | CA414793920 | MT-CO2 | c.248T>G (p.Ile83Ser) | |
| MT | m.7833T= | CA2499565356 | MT-CO2 | c.248T= (p.Ile83=) | |
| MT | m.7834C>A | CA913178247 | MT-CO2 | c.249C>A (p.Ile83=) | |
| MT | m.7834C= | CA2573328236 | MT-CO2 | c.249C= (p.Ile83=) | |
| MT | m.7834C>G | CA414793922 | MT-CO2 | c.249C>G (p.Ile83Met) | |
| MT | m.7834C>T | CA913178245 | MT-CO2 | c.249C>T (p.Ile83=) | |
| MT | m.7835C>A | CA414793926 | MT-CO2 | c.250C>A (p.Leu84Ile) | |
| MT | m.7835C= | CA2573328238 | MT-CO2 | c.250C= (p.Leu84=) | |
| MT | m.7835C>G | CA414793928 | MT-CO2 | c.250C>G (p.Leu84Val) | |
| MT | m.7835C>T | CA414793925 | MT-CO2 | c.250C>T (p.Leu84Phe) |