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.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | 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.8815_13722del | CA645373338 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.10106_15067del | CA645373340 | ClinVar | ||
| MT | m.10775_14941del | CA2740090229 | ClinVar | ||
| MT | m.10950_15540del | CA2580102079 | ClinVar | ||
| MT | m.11263_15374del | CA645373341 | ClinVar | ||
| MT | m.11593_11597del | CA2740098348 | MT-ND4 | c.834_838del (p.Gln279ArgfsTer?) | |
| MT | m.11597A= | CA2573328074 | MT-ND4 | c.838A= (p.Thr280=) | |
| MT | m.11597A>C | CA414810539 | MT-ND4 | c.838A>C (p.Thr280Pro) | |
| MT | m.11597A>G | CA414810540 | MT-ND4 | c.838A>G (p.Thr280Ala) | |
| MT | m.11597A>T | CA414810541 | MT-ND4 | c.838A>T (p.Thr280Ser) | |
| MT | m.11598C>A | CA414810542 | MT-ND4 | c.839C>A (p.Thr280Lys) | |
| MT | m.11598C= | CA2573328076 | MT-ND4 | c.839C= (p.Thr280=) | |
| MT | m.11598C>G | CA414810543 | MT-ND4 | c.839C>G (p.Thr280Arg) | |
| MT | m.11598C>T | CA414810544 | MT-ND4 | c.839C>T (p.Thr280Ile) | |
| MT | m.11599A= | CA2573328077 | MT-ND4 | c.840A= (p.Thr280=) | |
| MT | m.11599A>C | CA913167835 | MT-ND4 | c.840A>C (p.Thr280=) | |
| MT | m.11599A>G | CA913167836 | MT-ND4 | c.840A>G (p.Thr280=) | |
| MT | m.11599A>T | CA913167828 | MT-ND4 | c.840A>T (p.Thr280=) | |
| MT | m.11600G>A | CA414810545 | MT-ND4 | c.841G>A (p.Asp281Asn) | |
| MT | m.11600G>C | CA414810546 | MT-ND4 | c.841G>C (p.Asp281His) | |
| MT | m.11600G= | CA2573328078 | MT-ND4 | c.841G= (p.Asp281=) | |
| MT | m.11600G>T | CA414810547 | MT-ND4 | c.841G>T (p.Asp281Tyr) | |
| MT | m.11601A= | CA2573328082 | MT-ND4 | c.842A= (p.Asp281=) | |
| MT | m.11601A>C | CA414810550 | MT-ND4 | c.842A>C (p.Asp281Ala) | |
| MT | m.11601A>G | CA414810548 | MT-ND4 | c.842A>G (p.Asp281Gly) | |
| MT | m.11601A>T | CA414810549 | MT-ND4 | c.842A>T (p.Asp281Val) | |
| MT | m.11602C>A | CA414810551 | MT-ND4 | c.843C>A (p.Asp281Glu) | |
| MT | m.11602C= | CA2499567214 | MT-ND4 | c.843C= (p.Asp281=) | |
| MT | m.11602C>G | CA414810552 | MT-ND4 | c.843C>G (p.Asp281Glu) | |
| MT | m.11602C>T | CA913167840 | MT-ND4 | c.843C>T (p.Asp281=) | dbSNP |
| MT | m.11602_11603del | CA2740098349 | MT-ND4 | c.843_844del (p.Leu282LysfsTer?) | |
| MT | m.11603C>A | CA337099234 | MT-ND4 | c.844C>A (p.Leu282Ile) | dbSNP |
| MT | m.11603C= | CA2499567215 | MT-ND4 | c.844C= (p.Leu282=) | |
| MT | m.11603C>G | CA414810553 | MT-ND4 | c.844C>G (p.Leu282Val) | |
| MT | m.11603C>T | CA913167842 | MT-ND4 | c.844C>T (p.Leu282=) | |
| MT | m.11604T>A | CA414810554 | MT-ND4 | c.845T>A (p.Leu282Gln) | |
| MT | m.11604T>C | CA414810555 | MT-ND4 | c.845T>C (p.Leu282Pro) | |
| MT | m.11604T>G | CA414810556 | MT-ND4 | c.845T>G (p.Leu282Arg) | |
| MT | m.11604T= | CA2573328087 | MT-ND4 | c.845T= (p.Leu282=) | |
| MT | m.11605A= | CA2499567216 | MT-ND4 | c.846A= (p.Leu282=) | |
| MT | m.11605A>C | CA913167849 | MT-ND4 | c.846A>C (p.Leu282=) | |
| MT | m.11605A>G | CA913167852 | MT-ND4 | c.846A>G (p.Leu282=) | dbSNP |
| MT | m.11605A>T | CA913167855 | MT-ND4 | c.846A>T (p.Leu282=) | |
| MT | m.11606A= | CA2573328090 | MT-ND4 | c.847A= (p.Lys283=) | |
| MT | m.11606A>C | CA414810557 | MT-ND4 | c.847A>C (p.Lys283Gln) | |
| MT | m.11606A>G | CA414810558 | MT-ND4 | c.847A>G (p.Lys283Glu) | |
| MT | m.11606A>T | CA414810559 | MT-ND4 | c.847A>T (p.Lys283Ter) | |
| MT | m.11607A= | CA2499567217 | MT-ND4 | c.848A= (p.Lys283=) | |
| MT | m.11607A>C | CA414810561 | MT-ND4 | c.848A>C (p.Lys283Thr) | |
| MT | m.11607A>G | CA414810562 | MT-ND4 | c.848A>G (p.Lys283Arg) | dbSNP |
| MT | m.11607A>T | CA414810560 | MT-ND4 | c.848A>T (p.Lys283Ile) | |
| MT | m.11608A= | CA2499567218 | MT-ND4 | c.849A= (p.Lys283=) | |
| MT | m.11608A>C | CA414810564 | MT-ND4 | c.849A>C (p.Lys283Asn) | |
| MT | m.11608A>G | CA337099236 | MT-ND4 | c.849A>G (p.Lys283=) | dbSNP |
| MT | m.11608A>T | CA414810563 | MT-ND4 | c.849A>T (p.Lys283Asn) | |
| MT | m.11609T>A | CA414810565 | MT-ND4 | c.850T>A (p.Ser284Thr) | |
| MT | m.11609T>C | CA414810566 | MT-ND4 | c.850T>C (p.Ser284Pro) | dbSNP |
| MT | m.11609T>G | CA414810567 | MT-ND4 | c.850T>G (p.Ser284Ala) | |
| MT | m.11609T= | CA2499567219 | MT-ND4 | c.850T= (p.Ser284=) | |
| MT | m.11610C>A | CA414810570 | MT-ND4 | c.851C>A (p.Ser284Ter) | |
| MT | m.11610C= | CA2573328093 | MT-ND4 | c.851C= (p.Ser284=) | |
| MT | m.11610C>G | CA414810569 | MT-ND4 | c.851C>G (p.Ser284Trp) | |
| MT | m.11610C>T | CA414810568 | MT-ND4 | c.851C>T (p.Ser284Leu) | |
| MT | m.11611G>A | CA337099242 | MT-ND4 | c.852G>A (p.Ser284=) | dbSNP |
| MT | m.11611G>C | CA337099241 | MT-ND4 | c.852G>C (p.Ser284=) | |
| MT | m.11611G= | CA2499567220 | MT-ND4 | c.852G= (p.Ser284=) | |
| MT | m.11611G>T | CA337099238 | MT-ND4 | c.852G>T (p.Ser284=) | |
| MT | m.11612C>A | CA414810571 | MT-ND4 | c.853C>A (p.Leu285Ile) | |
| MT | m.11612C= | CA2573328098 | MT-ND4 | c.853C= (p.Leu285=) | |
| MT | m.11612C>G | CA414810572 | MT-ND4 | c.853C>G (p.Leu285Val) | |
| MT | m.11612C>T | CA414810573 | MT-ND4 | c.853C>T (p.Leu285Phe) | |
| MT | m.11613T>A | CA414810574 | MT-ND4 | c.854T>A (p.Leu285His) | |
| MT | m.11613T>C | CA414810576 | MT-ND4 | c.854T>C (p.Leu285Pro) | |
| MT | m.11613T>G | CA414810575 | MT-ND4 | c.854T>G (p.Leu285Arg) | |
| MT | m.11613T= | CA2573328099 | MT-ND4 | c.854T= (p.Leu285=) | |
| MT | m.11614C>A | CA913167892 | MT-ND4 | c.855C>A (p.Leu285=) | |
| MT | m.11614C= | CA2499567221 | MT-ND4 | c.855C= (p.Leu285=) | |
| MT | m.11614C>G | CA913167889 | MT-ND4 | c.855C>G (p.Leu285=) | |
| MT | m.11614C>T | CA913167891 | MT-ND4 | c.855C>T (p.Leu285=) | dbSNP |
| MT | m.11615A= | CA2499567222 | MT-ND4 | c.856A= (p.Ile286=) | |
| MT | m.11615A>C | CA414810577 | MT-ND4 | c.856A>C (p.Ile286Leu) | |
| MT | m.11615A>G | CA414810578 | MT-ND4 | c.856A>G (p.Ile286Val) | ClinVar dbSNP |
| MT | m.11615A>T | CA414810579 | MT-ND4 | c.856A>T (p.Ile286Phe) | |
| MT | m.11616T>A | CA414810580 | MT-ND4 | c.857T>A (p.Ile286Asn) | |
| MT | m.11616T>C | CA414810581 | MT-ND4 | c.857T>C (p.Ile286Thr) | |
| MT | m.11616T>G | CA414810582 | MT-ND4 | c.857T>G (p.Ile286Ser) | |
| MT | m.11616T= | CA2573328103 | MT-ND4 | c.857T= (p.Ile286=) | |
| MT | m.11617T>A | CA337099244 | MT-ND4 | c.858T>A (p.Ile286=) | |
| MT | m.11617T>C | CA913167903 | MT-ND4 | c.858T>C (p.Ile286=) | dbSNP |
| MT | m.11617T>G | CA337099246 | MT-ND4 | c.858T>G (p.Ile286Met) | |
| MT | m.11617T= | CA2499567223 | MT-ND4 | c.858T= (p.Ile286=) | |
| MT | m.11618G>A | CA414810583 | MT-ND4 | c.859G>A (p.Ala287Thr) | |
| MT | m.11618G>C | CA414810584 | MT-ND4 | c.859G>C (p.Ala287Pro) | |
| MT | m.11618G= | CA2573328106 | MT-ND4 | c.859G= (p.Ala287=) | |
| MT | m.11618G>T | CA414810585 | MT-ND4 | c.859G>T (p.Ala287Ser) | |
| MT | m.11619C>A | CA414810586 | MT-ND4 | c.860C>A (p.Ala287Glu) | |
| MT | m.11619C= | CA2573328108 | MT-ND4 | c.860C= (p.Ala287=) | |
| MT | m.11619C>G | CA414810588 | MT-ND4 | c.860C>G (p.Ala287Gly) | |
| MT | m.11619C>T | CA414810587 | MT-ND4 | c.860C>T (p.Ala287Val) | |
| MT | m.11619_11621delinsCAT | CA2499567224 | MT-ND4 | c.860_862delinsCAT (p.Ala287=) | |
| MT | m.11620A= | CA2499567225 | MT-ND4 | c.861A= (p.Ala287=) | |
| MT | m.11620A>C | CA913167917 | MT-ND4 | c.861A>C (p.Ala287=) | |
| MT | m.11620A>G | CA337099248 | MT-ND4 | c.861A>G (p.Ala287=) | dbSNP |
| MT | m.11620A>T | CA913167913 | MT-ND4 | c.861A>T (p.Ala287=) | |
| MT | m.11621_11622del | CA915952143 | MT-ND4 | c.862_863del (p.Tyr288LeufsTer?) | ClinVar dbSNP |
| MT | m.11621T>A | CA414810589 | MT-ND4 | c.862T>A (p.Tyr288Asn) | |
| MT | m.11621T>C | CA414810590 | MT-ND4 | c.862T>C (p.Tyr288His) | |
| MT | m.11621T>G | CA414810591 | MT-ND4 | c.862T>G (p.Tyr288Asp) | |
| MT | m.11621T= | CA2573328110 | MT-ND4 | c.862T= (p.Tyr288=) | |
| MT | m.11622A= | CA2573328111 | MT-ND4 | c.863A= (p.Tyr288=) | |
| MT | m.11622A>C | CA414810592 | MT-ND4 | c.863A>C (p.Tyr288Ser) | |
| MT | m.11622A>G | CA414810593 | MT-ND4 | c.863A>G (p.Tyr288Cys) | |
| MT | m.11622A>T | CA414810594 | MT-ND4 | c.863A>T (p.Tyr288Phe) | |
| MT | m.11623C>A | CA414810595 | MT-ND4 | c.864C>A (p.Tyr288Ter) | |
| MT | m.11623C= | CA2499567226 | MT-ND4 | c.864C= (p.Tyr288=) | |
| MT | m.11623C>G | CA414810596 | MT-ND4 | c.864C>G (p.Tyr288Ter) | |
| MT | m.11623C>T | CA913167941 | MT-ND4 | c.864C>T (p.Tyr288=) | dbSNP |
| MT | m.11624T>A | CA414810597 | MT-ND4 | c.865T>A (p.Ser289Thr) | |
| MT | m.11624T>C | CA414810598 | MT-ND4 | c.865T>C (p.Ser289Pro) | |
| MT | m.11624T>G | CA414810599 | MT-ND4 | c.865T>G (p.Ser289Ala) | |
| MT | m.11624T= | CA2573328114 | MT-ND4 | c.865T= (p.Ser289=) | |
| MT | m.11625C>A | CA414810600 | MT-ND4 | c.866C>A (p.Ser289Tyr) | |
| MT | m.11625C= | CA2513245537 | MT-ND4 | c.866C= (p.Ser289=) | |
| MT | m.11625C>G | CA414810602 | MT-ND4 | c.866C>G (p.Ser289Cys) | |
| MT | m.11625C>T | CA414810601 | MT-ND4 | c.866C>T (p.Ser289Phe) | |
| MT | m.11626T>A | CA913167964 | MT-ND4 | c.867T>A (p.Ser289=) | |
| MT | m.11626T>C | CA913167963 | MT-ND4 | c.867T>C (p.Ser289=) | dbSNP |
| MT | m.11626T>G | CA913167962 | MT-ND4 | c.867T>G (p.Ser289=) | |
| MT | m.11626T= | CA2499567227 | MT-ND4 | c.867T= (p.Ser289=) | |
| MT | m.11627T>A | CA414810603 | MT-ND4 | c.868T>A (p.Ser290Thr) | |
| MT | m.11627T>C | CA414810604 | MT-ND4 | c.868T>C (p.Ser290Pro) | |
| MT | m.11627T>G | CA414810605 | MT-ND4 | c.868T>G (p.Ser290Ala) | |
| MT | m.11627T= | CA2573328115 | MT-ND4 | c.868T= (p.Ser290=) | |
| MT | m.11628C>A | CA414810606 | MT-ND4 | c.869C>A (p.Ser290Ter) | |
| MT | m.11628C= | CA2573328117 | MT-ND4 | c.869C= (p.Ser290=) | |
| MT | m.11628C>G | CA414810607 | MT-ND4 | c.869C>G (p.Ser290Ter) | |
| MT | m.11628C>T | CA414810608 | MT-ND4 | c.869C>T (p.Ser290Leu) | |
| MT | m.11629A= | CA2573328119 | MT-ND4 | c.870A= (p.Ser290=) | |
| MT | m.11629A>C | CA913167975 | MT-ND4 | c.870A>C (p.Ser290=) | |
| MT | m.11629A>G | CA913167976 | MT-ND4 | c.870A>G (p.Ser290=) | |
| MT | m.11629A>T | CA913167977 | MT-ND4 | c.870A>T (p.Ser290=) | |
| MT | m.11630A= | CA2573328120 | MT-ND4 | c.871A= (p.Ile291=) | |
| MT | m.11630A>C | CA414810609 | MT-ND4 | c.871A>C (p.Ile291Leu) | |
| MT | m.11630A>G | CA414810610 | MT-ND4 | c.871A>G (p.Ile291Val) | |
| MT | m.11630A>T | CA414810611 | MT-ND4 | c.871A>T (p.Ile291Phe) | |
| MT | m.11631T>A | CA414810614 | MT-ND4 | c.872T>A (p.Ile291Asn) | |
| MT | m.11631T>C | CA414810613 | MT-ND4 | c.872T>C (p.Ile291Thr) | |
| MT | m.11631T>G | CA414810612 | MT-ND4 | c.872T>G (p.Ile291Ser) | |
| MT | m.11631T= | CA2573328123 | MT-ND4 | c.872T= (p.Ile291=) | |
| MT | m.11632C>A | CA913167996 | MT-ND4 | c.873C>A (p.Ile291=) | |
| MT | m.11632C= | CA2573328125 | MT-ND4 | c.873C= (p.Ile291=) | |
| MT | m.11632C>G | CA414810615 | MT-ND4 | c.873C>G (p.Ile291Met) | |
| MT | m.11632C>T | CA913167998 | MT-ND4 | c.873C>T (p.Ile291=) | |
| MT | m.11633A= | CA2573328126 | MT-ND4 | c.874A= (p.Ser292=) | |
| MT | m.11633A>C | CA414810618 | MT-ND4 | c.874A>C (p.Ser292Arg) | |
| MT | m.11633A>G | CA414810616 | MT-ND4 | c.874A>G (p.Ser292Gly) | |
| MT | m.11633A>T | CA414810617 | MT-ND4 | c.874A>T (p.Ser292Cys) | |
| MT | m.11634G>A | CA414810619 | MT-ND4 | c.875G>A (p.Ser292Asn) | ClinVar dbSNP |
| MT | m.11634G>C | CA414810620 | MT-ND4 | c.875G>C (p.Ser292Thr) | |
| MT | m.11634G= | CA2499567228 | MT-ND4 | c.875G= (p.Ser292=) | |
| MT | m.11634G>T | CA414810621 | MT-ND4 | c.875G>T (p.Ser292Ile) | |
| MT | m.11635C>A | CA414810622 | MT-ND4 | c.876C>A (p.Ser292Arg) | |
| MT | m.11635C= | CA2573328130 | MT-ND4 | c.876C= (p.Ser292=) | |
| MT | m.11635C>G | CA414810623 | MT-ND4 | c.876C>G (p.Ser292Arg) | |
| MT | m.11635C>T | CA913168002 | MT-ND4 | c.876C>T (p.Ser292=) | |
| MT | m.11636C>A | CA414810624 | MT-ND4 | c.877C>A (p.His293Asn) | |
| MT | m.11636C= | CA2573328132 | MT-ND4 | c.877C= (p.His293=) | |
| MT | m.11636C>G | CA414810625 | MT-ND4 | c.877C>G (p.His293Asp) | |
| MT | m.11636C>T | CA414810626 | MT-ND4 | c.877C>T (p.His293Tyr) | |
| MT | m.11637A= | CA2573328134 | MT-ND4 | c.878A= (p.His293=) | |
| MT | m.11637A>C | CA414810629 | MT-ND4 | c.878A>C (p.His293Pro) | |
| MT | m.11637A>G | CA414810628 | MT-ND4 | c.878A>G (p.His293Arg) | |
| MT | m.11637A>T | CA414810627 | MT-ND4 | c.878A>T (p.His293Leu) | |
| MT | m.11638C>A | CA414810630 | MT-ND4 | c.879C>A (p.His293Gln) | |
| MT | m.11638C= | CA2573328137 | MT-ND4 | c.879C= (p.His293=) | |
| MT | m.11638C>G | CA414810631 | MT-ND4 | c.879C>G (p.His293Gln) | |
| MT | m.11638C>T | CA913168017 | MT-ND4 | c.879C>T (p.His293=) | dbSNP |
| MT | m.11639A= | CA2573328138 | MT-ND4 | c.880A= (p.Ile294=) | |
| MT | m.11639A>C | CA414810632 | MT-ND4 | c.880A>C (p.Ile294Leu) | |
| MT | m.11639A>G | CA414810633 | MT-ND4 | c.880A>G (p.Ile294Val) | |
| MT | m.11639A>T | CA414810634 | MT-ND4 | c.880A>T (p.Ile294Leu) | |
| MT | m.11640T>A | CA414810635 | MT-ND4 | c.881T>A (p.Ile294Lys) | |
| MT | m.11640T>C | CA414810636 | MT-ND4 | c.881T>C (p.Ile294Thr) | |
| MT | m.11640T>G | CA414810637 | MT-ND4 | c.881T>G (p.Ile294Arg) | |
| MT | m.11640T= | CA2573328141 | MT-ND4 | c.881T= (p.Ile294=) | |
| MT | m.11641A= | CA2499567229 | MT-ND4 | c.882A= (p.Ile294=) | |
| MT | m.11641A>C | CA337099253 | MT-ND4 | c.882A>C (p.Ile294=) | |
| MT | m.11641A>G | CA337099250 | MT-ND4 | c.882A>G (p.Ile294Met) | dbSNP |
| MT | m.11641A>T | CA337099252 | MT-ND4 | c.882A>T (p.Ile294=) | |
| MT | m.11642G>A | CA414810639 | MT-ND4 | c.883G>A (p.Ala295Thr) | |
| MT | m.11642G>C | CA414810640 | MT-ND4 | c.883G>C (p.Ala295Pro) | |
| MT | m.11642G= | CA2573328146 | MT-ND4 | c.883G= (p.Ala295=) | |
| MT | m.11642G>T | CA414810638 | MT-ND4 | c.883G>T (p.Ala295Ser) | |
| MT | m.11643C>A | CA414810641 | MT-ND4 | c.884C>A (p.Ala295Asp) | |
| MT | m.11643C= | CA2573328148 | MT-ND4 | c.884C= (p.Ala295=) | |
| MT | m.11643C>G | CA414810642 | MT-ND4 | c.884C>G (p.Ala295Gly) | |
| MT | m.11643C>T | CA414810643 | MT-ND4 | c.884C>T (p.Ala295Val) | |
| MT | m.11644C>A | CA913168051 | MT-ND4 | c.885C>A (p.Ala295=) | |
| MT | m.11644C= | CA2573328150 | MT-ND4 | c.885C= (p.Ala295=) | |
| MT | m.11644C>G | CA913168049 | MT-ND4 | c.885C>G (p.Ala295=) | |
| MT | m.11644C>T | CA913168050 | MT-ND4 | c.885C>T (p.Ala295=) | |
| MT | m.11645C>A | CA414810644 | MT-ND4 | c.886C>A (p.Leu296Ile) | |
| MT | m.11645C= | CA2573328152 | MT-ND4 | c.886C= (p.Leu296=) | |
| MT | m.11645C>G | CA414810645 | MT-ND4 | c.886C>G (p.Leu296Val) | |
| MT | m.11645C>T | CA414810646 | MT-ND4 | c.886C>T (p.Leu296Phe) | |
| MT | m.11646T>A | CA414810647 | MT-ND4 | c.887T>A (p.Leu296His) | |
| MT | m.11646T>C | CA414810648 | MT-ND4 | c.887T>C (p.Leu296Pro) | |
| MT | m.11646T>G | CA414810649 | MT-ND4 | c.887T>G (p.Leu296Arg) | |
| MT | m.11646T= | CA2573328154 | MT-ND4 | c.887T= (p.Leu296=) | |
| MT | m.11647C>A | CA913168068 | MT-ND4 | c.888C>A (p.Leu296=) | |
| MT | m.11647C= | CA2499567230 | MT-ND4 | c.888C= (p.Leu296=) | |
| MT | m.11647C>G | CA913168065 | MT-ND4 | c.888C>G (p.Leu296=) | |
| MT | m.11647C>T | CA913168063 | MT-ND4 | c.888C>T (p.Leu296=) | dbSNP |
| MT | m.11648G>A | CA414810650 | MT-ND4 | c.889G>A (p.Val297Ile) | |
| MT | m.11648G>C | CA414810651 | MT-ND4 | c.889G>C (p.Val297Leu) | |
| MT | m.11648G= | CA2573328156 | MT-ND4 | c.889G= (p.Val297=) | |
| MT | m.11648G>T | CA414810652 | MT-ND4 | c.889G>T (p.Val297Leu) | |
| MT | m.11649T>A | CA414810655 | MT-ND4 | c.890T>A (p.Val297Glu) | |
| MT | m.11649T>C | CA414810653 | MT-ND4 | c.890T>C (p.Val297Ala) | dbSNP |
| MT | m.11649T>G | CA414810654 | MT-ND4 | c.890T>G (p.Val297Gly) | |
| MT | m.11649T= | CA2499567231 | MT-ND4 | c.890T= (p.Val297=) | |
| MT | m.11650A= | CA2573328161 | MT-ND4 | c.891A= (p.Val297=) | |
| MT | m.11650A>C | CA913168081 | MT-ND4 | c.891A>C (p.Val297=) | |
| MT | m.11650A>G | CA913168080 | MT-ND4 | c.891A>G (p.Val297=) | |
| MT | m.11650A>T | CA913168084 | MT-ND4 | c.891A>T (p.Val297=) | |
| MT | m.11651G>A | CA414810656 | MT-ND4 | c.892G>A (p.Val298Ile) | dbSNP |
| MT | m.11651G>C | CA414810657 | MT-ND4 | c.892G>C (p.Val298Leu) | |
| MT | m.11651G= | CA2573328163 | MT-ND4 | c.892G= (p.Val298=) | |
| MT | m.11651G>T | CA414810658 | MT-ND4 | c.892G>T (p.Val298Leu) | |
| MT | m.11652T>A | CA414810659 | MT-ND4 | c.893T>A (p.Val298Glu) | |
| MT | m.11652T>C | CA414810660 | MT-ND4 | c.893T>C (p.Val298Ala) | dbSNP |
| MT | m.11652T>G | CA414810661 | MT-ND4 | c.893T>G (p.Val298Gly) | |
| MT | m.11652T= | CA2499567232 | MT-ND4 | c.893T= (p.Val298=) | |
| MT | m.11653A= | CA2499567233 | MT-ND4 | c.894A= (p.Val298=) | |
| MT | m.11653A>C | CA913168095 | MT-ND4 | c.894A>C (p.Val298=) | |
| MT | m.11653A>G | CA913168093 | MT-ND4 | c.894A>G (p.Val298=) | dbSNP |
| MT | m.11653A>T | CA913168092 | MT-ND4 | c.894A>T (p.Val298=) | |
| MT | m.11654A= | CA2499567234 | MT-ND4 | c.895A= (p.Thr299=) | |
| MT | m.11654A>C | CA414810662 | MT-ND4 | c.895A>C (p.Thr299Pro) | |
| MT | m.11654A>G | CA414810663 | MT-ND4 | c.895A>G (p.Thr299Ala) | ClinVar dbSNP |
| MT | m.11654A>T | CA414810664 | MT-ND4 | c.895A>T (p.Thr299Ser) | |
| MT | m.11655C>A | CA414810665 | MT-ND4 | c.896C>A (p.Thr299Lys) | |
| MT | m.11655C= | CA2573328169 | MT-ND4 | c.896C= (p.Thr299=) | |
| MT | m.11655C>G | CA414810666 | MT-ND4 | c.896C>G (p.Thr299Arg) | |
| MT | m.11655C>T | CA414810667 | MT-ND4 | c.896C>T (p.Thr299Ile) | |
| MT | m.11656A= | CA2573328171 | MT-ND4 | c.897A= (p.Thr299=) | |
| MT | m.11656A>C | CA913168111 | MT-ND4 | c.897A>C (p.Thr299=) | |
| MT | m.11656A>G | CA913168110 | MT-ND4 | c.897A>G (p.Thr299=) | |
| MT | m.11656A>T | CA913168109 | MT-ND4 | c.897A>T (p.Thr299=) | |
| MT | m.11657G>A | CA414810670 | MT-ND4 | c.898G>A (p.Ala300Thr) | |
| MT | m.11657G>C | CA414810669 | MT-ND4 | c.898G>C (p.Ala300Pro) | |
| MT | m.11657G= | CA2573328173 | MT-ND4 | c.898G= (p.Ala300=) | |
| MT | m.11657G>T | CA414810668 | MT-ND4 | c.898G>T (p.Ala300Ser) | |
| MT | m.11658C>A | CA414810672 | MT-ND4 | c.899C>A (p.Ala300Asp) | |
| MT | m.11658C= | CA2573328175 | MT-ND4 | c.899C= (p.Ala300=) | |
| MT | m.11658C>G | CA414810671 | MT-ND4 | c.899C>G (p.Ala300Gly) | |
| MT | m.11658C>T | CA414810673 | MT-ND4 | c.899C>T (p.Ala300Val) | |
| MT | m.11659C>A | CA337099256 | MT-ND4 | c.900C>A (p.Ala300=) | |
| MT | m.11659C= | CA2499567235 | MT-ND4 | c.900C= (p.Ala300=) | |
| MT | m.11659C>G | CA337099258 | MT-ND4 | c.900C>G (p.Ala300=) | |
| MT | m.11659C>T | CA913168125 | MT-ND4 | c.900C>T (p.Ala300=) | dbSNP |
| MT | m.11660A= | CA2573328179 | MT-ND4 | c.901A= (p.Ile301=) | |
| MT | m.11660A>C | CA414810674 | MT-ND4 | c.901A>C (p.Ile301Leu) | |
| MT | m.11660A>G | CA414810675 | MT-ND4 | c.901A>G (p.Ile301Val) | |
| MT | m.11660A>T | CA414810676 | MT-ND4 | c.901A>T (p.Ile301Phe) | |
| MT | m.11661T>A | CA414810677 | MT-ND4 | c.902T>A (p.Ile301Asn) | |
| MT | m.11661T>C | CA414810678 | MT-ND4 | c.902T>C (p.Ile301Thr) | |
| MT | m.11661T>G | CA414810679 | MT-ND4 | c.902T>G (p.Ile301Ser) | |
| MT | m.11661T= | CA2573328180 | MT-ND4 | c.902T= (p.Ile301=) | |
| MT | m.11662T>A | CA913168138 | MT-ND4 | c.903T>A (p.Ile301=) | |
| MT | m.11662T>C | CA913168136 | MT-ND4 | c.903T>C (p.Ile301=) | dbSNP |
| MT | m.11662T>G | CA414810680 | MT-ND4 | c.903T>G (p.Ile301Met) | |
| MT | m.11662T= | CA2499567236 | MT-ND4 | c.903T= (p.Ile301=) | |
| MT | m.11663C>A | CA337099260 | MT-ND4 | c.904C>A (p.Leu302Ile) | |
| MT | m.11663C= | CA2499567237 | MT-ND4 | c.904C= (p.Leu302=) | |
| MT | m.11663C>G | CA414810681 | MT-ND4 | c.904C>G (p.Leu302Val) | |
| MT | m.11663C>T | CA337099262 | MT-ND4 | c.904C>T (p.Leu302Phe) | dbSNP |
| MT | m.11664T>A | CA414810684 | MT-ND4 | c.905T>A (p.Leu302His) | |
| MT | m.11664T>C | CA414810683 | MT-ND4 | c.905T>C (p.Leu302Pro) | |
| MT | m.11664T>G | CA414810682 | MT-ND4 | c.905T>G (p.Leu302Arg) | |
| MT | m.11664T= | CA2513188555 | MT-ND4 | c.905T= (p.Leu302=) | |
| MT | m.11665C>A | CA913168143 | MT-ND4 | c.906C>A (p.Leu302=) | |
| MT | m.11665C= | CA2499567238 | MT-ND4 | c.906C= (p.Leu302=) | |
| MT | m.11665C>G | CA337099264 | MT-ND4 | c.906C>G (p.Leu302=) | |
| MT | m.11665C>T | CA337099266 | MT-ND4 | c.906C>T (p.Leu302=) | dbSNP |
| MT | m.11666A= | CA2573328183 | MT-ND4 | c.907A= (p.Ile303=) | |
| MT | m.11666A>C | CA414810685 | MT-ND4 | c.907A>C (p.Ile303Leu) | |
| MT | m.11666A>G | CA414810686 | MT-ND4 | c.907A>G (p.Ile303Val) | |
| MT | m.11666A>T | CA414810687 | MT-ND4 | c.907A>T (p.Ile303Phe) | |
| MT | m.11667T>A | CA414810688 | MT-ND4 | c.908T>A (p.Ile303Asn) | |
| MT | m.11667T>C | CA414810689 | MT-ND4 | c.908T>C (p.Ile303Thr) | |
| MT | m.11667T>G | CA414810690 | MT-ND4 | c.908T>G (p.Ile303Ser) | |
| MT | m.11667T= | CA2573328185 | MT-ND4 | c.908T= (p.Ile303=) | |
| MT | m.11668C>A | CA913168149 | MT-ND4 | c.909C>A (p.Ile303=) | |
| MT | m.11668C= | CA2499567239 | MT-ND4 | c.909C= (p.Ile303=) | |
| MT | m.11668C>G | CA414810691 | MT-ND4 | c.909C>G (p.Ile303Met) | |
| MT | m.11668C>T | CA913168147 | MT-ND4 | c.909C>T (p.Ile303=) | dbSNP |
| MT | m.11669C>A | CA414810692 | MT-ND4 | c.910C>A (p.Gln304Lys) | |
| MT | m.11669C= | CA2573328187 | MT-ND4 | c.910C= (p.Gln304=) | |
| MT | m.11669C>G | CA414810693 | MT-ND4 | c.910C>G (p.Gln304Glu) | |
| MT | m.11669C>T | CA414810694 | MT-ND4 | c.910C>T (p.Gln304Ter) | |
| MT | m.11670A= | CA2573328188 | MT-ND4 | c.911A= (p.Gln304=) | |
| MT | m.11670A>C | CA414810697 | MT-ND4 | c.911A>C (p.Gln304Pro) | |
| MT | m.11670A>G | CA414810696 | MT-ND4 | c.911A>G (p.Gln304Arg) | |
| MT | m.11670A>T | CA414810695 | MT-ND4 | c.911A>T (p.Gln304Leu) | |
| MT | m.11671A= | CA2499567240 | MT-ND4 | c.912A= (p.Gln304=) | |
| MT | m.11671A>C | CA414810699 | MT-ND4 | c.912A>C (p.Gln304His) | |
| MT | m.11671A>G | CA913168150 | MT-ND4 | c.912A>G (p.Gln304=) | dbSNP |
| MT | m.11671A>T | CA414810698 | MT-ND4 | c.912A>T (p.Gln304His) | |
| MT | m.11672A= | CA2573328190 | MT-ND4 | c.913A= (p.Thr305=) | |
| MT | m.11672A>C | CA414810700 | MT-ND4 | c.913A>C (p.Thr305Pro) | |
| MT | m.11672A>G | CA414810701 | MT-ND4 | c.913A>G (p.Thr305Ala) | |
| MT | m.11672A>T | CA414810702 | MT-ND4 | c.913A>T (p.Thr305Ser) | |
| MT | m.11673C>A | CA414810703 | MT-ND4 | c.914C>A (p.Thr305Asn) | |
| MT | m.11673C= | CA2573328192 | MT-ND4 | c.914C= (p.Thr305=) | |
| MT | m.11673C>G | CA414810704 | MT-ND4 | c.914C>G (p.Thr305Ser) | |
| MT | m.11673C>T | CA414810705 | MT-ND4 | c.914C>T (p.Thr305Ile) | |
| MT | m.11677dup | CA2740098350 | MT-ND4 | c.918dup (p.Ter307LeuextTer?) | |
| MT | m.11674C>A | CA913168152 | MT-ND4 | c.915C>A (p.Thr305=) | |
| MT | m.11674C= | CA2499567241 | MT-ND4 | c.915C= (p.Thr305=) | |
| MT | m.11674C>G | CA913168151 | MT-ND4 | c.915C>G (p.Thr305=) | |
| MT | m.11674C>T | CA337099268 | MT-ND4 | c.915C>T (p.Thr305=) | dbSNP |
| MT | m.11675C>A | CA414810706 | MT-ND4 | c.916C>A (p.Pro306Thr) | |
| MT | m.11675C= | CA2573328196 | MT-ND4 | c.916C= (p.Pro306=) | |
| MT | m.11675C>G | CA414810707 | MT-ND4 | c.916C>G (p.Pro306Ala) | |
| MT | m.11675C>T | CA414810708 | MT-ND4 | c.916C>T (p.Pro306Ser) | |
| MT | m.11676C>A | CA414810711 | MT-ND4 | c.917C>A (p.Pro306His) | |
| MT | m.11676C= | CA2573328198 | MT-ND4 | c.917C= (p.Pro306=) | |
| MT | m.11676C>G | CA414810710 | MT-ND4 | c.917C>G (p.Pro306Arg) | |
| MT | m.11676C>T | CA414810709 | MT-ND4 | c.917C>T (p.Pro306Leu) | |
| MT | m.11677C>A | CA913168162 | MT-ND4 | c.918C>A (p.Pro306=) | |
| MT | m.11677C= | CA2573328199 | MT-ND4 | c.918C= (p.Pro306=) | |
| MT | m.11677C>G | CA913168163 | MT-ND4 | c.918C>G (p.Pro306=) | |
| MT | m.11677C>T | CA913168164 | MT-ND4 | c.918C>T (p.Pro306=) | |
| MT | m.11678T>A | CA414810712 | MT-ND4 | c.919T>A (p.Ter307Arg) | |
| MT | m.11678T>C | CA414810713 | MT-ND4 | c.919T>C (p.Ter307Arg) | |
| MT | m.11678T>G | CA414810714 | MT-ND4 | c.919T>G (p.Ter307Gly) | |
| MT | m.11678T= | CA414810715 | MT-ND4 | c.919T= (p.Ter307=) | |
| MT | m.11679G>A | CA414810716 | MT-ND4 | c.920G>A (p.Ter307=) | |
| MT | m.11679G>C | CA414810717 | MT-ND4 | c.920G>C (p.Ter307Ser) | |
| MT | m.11679G= | CA414810718 | MT-ND4 | c.920G= (p.Ter307=) | |
| MT | m.11679G>T | CA414810719 | MT-ND4 | c.920G>T (p.Ter307Leu) | |
| MT | m.11680A= | CA414810720 | MT-ND4 | c.921A= (p.Ter307=) | |
| MT | m.11680A>C | CA414810721 | MT-ND4 | c.921A>C (p.Ter307Cys) | |
| MT | m.11680A>G | CA414810722 | MT-ND4 | c.921A>G (p.Ter307Trp) | |
| MT | m.11680A>T | CA414810723 | MT-ND4 | c.921A>T (p.Ter307Cys) | |
| MT | m.11681A= | CA913168183 | MT-ND4 | c.922A= (p.Ser308=) | |
| MT | m.11681A>C | CA414810725 | MT-ND4 | c.922A>C (p.Ser308Arg) | |
| MT | m.11681A>G | CA414810726 | MT-ND4 | c.922A>G (p.Ser308Gly) | |
| MT | m.11681A>T | CA414810724 | MT-ND4 | c.922A>T (p.Ser308Cys) | |
| MT | m.11682G>A | CA414810727 | MT-ND4 | c.923G>A (p.Ser308Asn) | |
| MT | m.11682G>C | CA414810729 | MT-ND4 | c.923G>C (p.Ser308Thr) | |
| MT | m.11682G= | CA2573328206 | MT-ND4 | c.923G= (p.Ser308=) | |
| MT | m.11682G>T | CA414810728 | MT-ND4 | c.923G>T (p.Ser308Ile) | |
| MT | m.11683C>A | CA414810730 | MT-ND4 | c.924C>A (p.Ser308Arg) | |
| MT | m.11683C= | CA2499567242 | MT-ND4 | c.924C= (p.Ser308=) | |
| MT | m.11683C>G | CA414810731 | MT-ND4 | c.924C>G (p.Ser308Arg) | |
| MT | m.11683C>T | CA913168196 | MT-ND4 | c.924C>T (p.Ser308=) | dbSNP |
| MT | m.11684T>A | CA414810732 | MT-ND4 | c.925T>A (p.Phe309Ile) | |
| MT | m.11684T>C | CA414810733 | MT-ND4 | c.925T>C (p.Phe309Leu) | |
| MT | m.11684T>G | CA414810734 | MT-ND4 | c.925T>G (p.Phe309Val) | |
| MT | m.11684T= | CA2573328209 | MT-ND4 | c.925T= (p.Phe309=) | |
| MT | m.11685T>A | CA414810735 | MT-ND4 | c.926T>A (p.Phe309Tyr) | |
| MT | m.11685T>C | CA414810736 | MT-ND4 | c.926T>C (p.Phe309Ser) | |
| MT | m.11685T>G | CA414810737 | MT-ND4 | c.926T>G (p.Phe309Cys) | |
| MT | m.11685T= | CA2573328210 | MT-ND4 | c.926T= (p.Phe309=) | |
| MT | m.11686C>A | CA414810738 | MT-ND4 | c.927C>A (p.Phe309Leu) | |
| MT | m.11686C= | CA2499567243 | MT-ND4 | c.927C= (p.Phe309=) | |
| MT | m.11686C>G | CA414810739 | MT-ND4 | c.927C>G (p.Phe309Leu) | |
| MT | m.11686C>T | CA337099270 | MT-ND4 | c.927C>T (p.Phe309=) | dbSNP |
| MT | m.11687A= | CA2573328216 | MT-ND4 | c.928A= (p.Thr310=) | |
| MT | m.11687A>C | CA414810742 | MT-ND4 | c.928A>C (p.Thr310Pro) | |
| MT | m.11687A>G | CA414810740 | MT-ND4 | c.928A>G (p.Thr310Ala) | dbSNP |
| MT | m.11687A>T | CA414810741 | MT-ND4 | c.928A>T (p.Thr310Ser) | |
| MT | m.11688C>A | CA414810743 | MT-ND4 | c.929C>A (p.Thr310Asn) | |
| MT | m.11688C= | CA2573328218 | MT-ND4 | c.929C= (p.Thr310=) | |
| MT | m.11688C>G | CA414810744 | MT-ND4 | c.929C>G (p.Thr310Ser) | |
| MT | m.11688C>T | CA414810745 | MT-ND4 | c.929C>T (p.Thr310Ile) | |
| MT | m.11689C>A | CA913168226 | MT-ND4 | c.930C>A (p.Thr310=) | |
| MT | m.11689C= | CA2573328221 | MT-ND4 | c.930C= (p.Thr310=) | |
| MT | m.11689C>G | CA913168224 | MT-ND4 | c.930C>G (p.Thr310=) | |
| MT | m.11689C>T | CA913168227 | MT-ND4 | c.930C>T (p.Thr310=) | |
| MT | m.11690G>A | CA414810746 | MT-ND4 | c.931G>A (p.Gly311Ser) | dbSNP |
| MT | m.11690G>C | CA414810747 | MT-ND4 | c.931G>C (p.Gly311Arg) | |
| MT | m.11690G= | CA2499567244 | MT-ND4 | c.931G= (p.Gly311=) | |
| MT | m.11690G>T | CA414810748 | MT-ND4 | c.931G>T (p.Gly311Cys) | |
| MT | m.11691G>A | CA414810749 | MT-ND4 | c.932G>A (p.Gly311Asp) | |
| MT | m.11691G>C | CA414810750 | MT-ND4 | c.932G>C (p.Gly311Ala) | |
| MT | m.11691G= | CA2573328225 | MT-ND4 | c.932G= (p.Gly311=) | |
| MT | m.11691G>T | CA414810751 | MT-ND4 | c.932G>T (p.Gly311Val) | |
| MT | m.11692C>A | CA913168228 | MT-ND4 | c.933C>A (p.Gly311=) | |
| MT | m.11692C= | CA2499567245 | MT-ND4 | c.933C= (p.Gly311=) | |
| MT | m.11692C>G | CA913168230 | MT-ND4 | c.933C>G (p.Gly311=) | |
| MT | m.11692C>T | CA645611409 | MT-ND4 | c.933C>T (p.Gly311=) | dbSNP COSMIC |
| MT | m.11693G>A | CA414810754 | MT-ND4 | c.934G>A (p.Ala312Thr) | COSMIC COSMIC |
| MT | m.11693G>C | CA414810753 | MT-ND4 | c.934G>C (p.Ala312Pro) | |
| MT | m.11693G= | CA2573328228 | MT-ND4 | c.934G= (p.Ala312=) | |
| MT | m.11693G>T | CA414810752 | MT-ND4 | c.934G>T (p.Ala312Ser) | |
| MT | m.11694C>A | CA414810755 | MT-ND4 | c.935C>A (p.Ala312Glu) | |
| MT | m.11694C= | CA2573328229 | MT-ND4 | c.935C= (p.Ala312=) | |
| MT | m.11694C>G | CA414810756 | MT-ND4 | c.935C>G (p.Ala312Gly) | |
| MT | m.11694C>T | CA414810757 | MT-ND4 | c.935C>T (p.Ala312Val) | |
| MT | m.11695A= | CA2499567246 | MT-ND4 | c.936A= (p.Ala312=) | |
| MT | m.11695A>C | CA913168238 | MT-ND4 | c.936A>C (p.Ala312=) | |
| MT | m.11695A>G | CA913168236 | MT-ND4 | c.936A>G (p.Ala312=) | dbSNP |
| MT | m.11695A>T | CA913168234 | MT-ND4 | c.936A>T (p.Ala312=) | |
| MT | m.11696G>A | CA120635 | MT-ND4 | c.937G>A (p.Val313Ile) | ClinVar dbSNP |
| MT | m.11696G>C | CA414810758 | MT-ND4 | c.937G>C (p.Val313Leu) | |
| MT | m.11696G= | CA2499567247 | MT-ND4 | c.937G= (p.Val313=) | |
| MT | m.11696G>T | CA414810759 | MT-ND4 | c.937G>T (p.Val313Phe) | |
| MT | m.11697T>A | CA414810760 | MT-ND4 | c.938T>A (p.Val313Asp) | |
| MT | m.11697T>C | CA414810761 | MT-ND4 | c.938T>C (p.Val313Ala) | |
| MT | m.11697T>G | CA414810762 | MT-ND4 | c.938T>G (p.Val313Gly) | |
| MT | m.11697T= | CA2573328232 | MT-ND4 | c.938T= (p.Val313=) |