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.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | 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.12114_14420del | CA645373342 | ClinVar | ||
| MT | m.14393A= | CA2499568470 | MT-ND6 | c.281T= (p.Val94=) | |
| MT | m.14393A>C | CA414822269 | MT-ND6 | c.281T>G (p.Val94Gly) | |
| MT | m.14393A>G | CA10581415 | MT-ND6 | c.281T>C (p.Val94Ala) | ClinVar dbSNP |
| MT | m.14393A>T | CA414822272 | MT-ND6 | c.281T>A (p.Val94Glu) | |
| MT | m.14394C>A | CA414822275 | MT-ND6 | c.280G>T (p.Val94Leu) | |
| MT | m.14394C= | CA2573327031 | MT-ND6 | c.280G= (p.Val94=) | |
| MT | m.14394C>G | CA414822276 | MT-ND6 | c.280G>C (p.Val94Leu) | |
| MT | m.14394C>T | CA414822278 | MT-ND6 | c.280G>A (p.Val94Met) | |
| MT | m.14395T>A | CA414822280 | MT-ND6 | c.279A>T (p.Leu93Phe) | |
| MT | m.14395T>C | CA913171607 | MT-ND6 | c.279A>G (p.Leu93=) | dbSNP |
| MT | m.14395T>G | CA414822282 | MT-ND6 | c.279A>C (p.Leu93Phe) | |
| MT | m.14395T= | CA2499568471 | MT-ND6 | c.279A= (p.Leu93=) | |
| MT | m.14396A= | CA2573327034 | MT-ND6 | c.278T= (p.Leu93=) | |
| MT | m.14396A>C | CA414822286 | MT-ND6 | c.278T>G (p.Leu93Ter) | |
| MT | m.14396A>G | CA414822288 | MT-ND6 | c.278T>C (p.Leu93Ser) | |
| MT | m.14396A>T | CA414822284 | MT-ND6 | c.278T>A (p.Leu93Ter) | |
| MT | m.14397A= | CA2573327037 | MT-ND6 | c.277T= (p.Leu93=) | |
| MT | m.14397A>C | CA414822290 | MT-ND6 | c.277T>G (p.Leu93Val) | |
| MT | m.14397A>G | CA913171608 | MT-ND6 | c.277T>C (p.Leu93=) | |
| MT | m.14397A>T | CA414822291 | MT-ND6 | c.277T>A (p.Leu93Ile) | |
| MT | m.14398A= | CA2499568472 | MT-ND6 | c.276T= (p.Val92=) | |
| MT | m.14398A>C | CA913171611 | MT-ND6 | c.276T>G (p.Val92=) | |
| MT | m.14398A>G | CA913171610 | MT-ND6 | c.276T>C (p.Val92=) | dbSNP |
| MT | m.14398A>T | CA913171609 | MT-ND6 | c.276T>A (p.Val92=) | |
| MT | m.14399A= | CA2573327040 | MT-ND6 | c.275T= (p.Val92=) | |
| MT | m.14399A>C | CA414822294 | MT-ND6 | c.275T>G (p.Val92Gly) | |
| MT | m.14399A>G | CA414822295 | MT-ND6 | c.275T>C (p.Val92Ala) | |
| MT | m.14399A>T | CA414822297 | MT-ND6 | c.275T>A (p.Val92Asp) | |
| MT | m.14400C>A | CA414822300 | MT-ND6 | c.274G>T (p.Val92Phe) | |
| MT | m.14400C= | CA2499568473 | MT-ND6 | c.274G= (p.Val92=) | |
| MT | m.14400C>G | CA414822301 | MT-ND6 | c.274G>C (p.Val92Leu) | |
| MT | m.14400C>T | CA414822303 | MT-ND6 | c.274G>A (p.Val92Ile) | dbSNP |
| MT | m.14401A= | CA2499568474 | MT-ND6 | c.273T= (p.Ser91=) | |
| MT | m.14401A>C | CA414822305 | MT-ND6 | c.273T>G (p.Ser91Arg) | |
| MT | m.14401A>G | CA913171612 | MT-ND6 | c.273T>C (p.Ser91=) | dbSNP |
| MT | m.14401A>T | CA414822307 | MT-ND6 | c.273T>A (p.Ser91Arg) | |
| MT | m.14402C>A | CA414822308 | MT-ND6 | c.272G>T (p.Ser91Ile) | |
| MT | m.14402C= | CA2573327043 | MT-ND6 | c.272G= (p.Ser91=) | |
| MT | m.14402C>G | CA414822310 | MT-ND6 | c.272G>C (p.Ser91Thr) | |
| MT | m.14402C>T | CA414822312 | MT-ND6 | c.272G>A (p.Ser91Asn) | |
| MT | m.14403T>A | CA414822318 | MT-ND6 | c.271A>T (p.Ser91Cys) | |
| MT | m.14403T>C | CA414822315 | MT-ND6 | c.271A>G (p.Ser91Gly) | dbSNP |
| MT | m.14403T>G | CA414822316 | MT-ND6 | c.271A>C (p.Ser91Arg) | |
| MT | m.14403T= | CA2499568475 | MT-ND6 | c.271A= (p.Ser91=) | |
| MT | m.14404C>A | CA337100038 | MT-ND6 | c.270G>T (p.Val90=) | |
| MT | m.14404C= | CA2499568476 | MT-ND6 | c.270G= (p.Val90=) | |
| MT | m.14404C>G | CA337100040 | MT-ND6 | c.270G>C (p.Val90=) | |
| MT | m.14404C>T | CA913171613 | MT-ND6 | c.270G>A (p.Val90=) | dbSNP |
| MT | m.14405A= | CA2499568477 | MT-ND6 | c.269T= (p.Val90=) | |
| MT | m.14405A>C | CA414822324 | MT-ND6 | c.269T>G (p.Val90Gly) | |
| MT | m.14405A>G | CA414822325 | MT-ND6 | c.269T>C (p.Val90Ala) | ClinVar dbSNP |
| MT | m.14405A>T | CA414822326 | MT-ND6 | c.269T>A (p.Val90Glu) | |
| MT | m.14406C>A | CA414822329 | MT-ND6 | c.268G>T (p.Val90Leu) | |
| MT | m.14406C= | CA2573327056 | MT-ND6 | c.268G= (p.Val90=) | |
| MT | m.14406C>G | CA414822331 | MT-ND6 | c.268G>C (p.Val90Leu) | |
| MT | m.14406C>T | CA414822332 | MT-ND6 | c.268G>A (p.Val90Met) | |
| MT | m.14407C>A | CA414822334 | MT-ND6 | c.267G>T (p.Leu89Phe) | |
| MT | m.14407C= | CA2499568478 | MT-ND6 | c.267G= (p.Leu89=) | |
| MT | m.14407C>G | CA414822336 | MT-ND6 | c.267G>C (p.Leu89Phe) | |
| MT | m.14407C>T | CA913171614 | MT-ND6 | c.267G>A (p.Leu89=) | dbSNP |
| MT | m.14408A= | CA2499568479 | MT-ND6 | c.266T= (p.Leu89=) | |
| MT | m.14408A>C | CA414822340 | MT-ND6 | c.266T>G (p.Leu89Trp) | |
| MT | m.14408A>G | CA414822341 | MT-ND6 | c.266T>C (p.Leu89Ser) | dbSNP |
| MT | m.14408A>T | CA414822338 | MT-ND6 | c.266T>A (p.Leu89Ter) | |
| MT | m.14409A= | CA2499568480 | MT-ND6 | c.265T= (p.Leu89=) | |
| MT | m.14409A>C | CA414822344 | MT-ND6 | c.265T>G (p.Leu89Val) | |
| MT | m.14409A>G | CA337100042 | MT-ND6 | c.265T>C (p.Leu89=) | dbSNP |
| MT | m.14409A>T | CA414822347 | MT-ND6 | c.265T>A (p.Leu89Met) | |
| MT | m.14410G>A | CA645611430 | MT-ND6 | c.264C>T (p.Val88=) | dbSNP COSMIC COSMIC |
| MT | m.14410G>C | CA913171615 | MT-ND6 | c.264C>G (p.Val88=) | |
| MT | m.14410G= | CA2499568481 | MT-ND6 | c.264C= (p.Val88=) | |
| MT | m.14410G>T | CA913171616 | MT-ND6 | c.264C>A (p.Val88=) | |
| MT | m.14410_14411insC | CA2740098388 | MT-ND6 | c.263_264insG (p.Val90GlyfsTer21) | |
| MT | m.14411A= | CA2573327064 | MT-ND6 | c.263T= (p.Val88=) | |
| MT | m.14411A>C | CA414822349 | MT-ND6 | c.263T>G (p.Val88Gly) | |
| MT | m.14411A>G | CA414822351 | MT-ND6 | c.263T>C (p.Val88Ala) | |
| MT | m.14411A>T | CA414822353 | MT-ND6 | c.263T>A (p.Val88Asp) | |
| MT | m.14412C>A | CA414822355 | MT-ND6 | c.262G>T (p.Val88Phe) | |
| MT | m.14412C= | CA2573327067 | MT-ND6 | c.262G= (p.Val88=) | |
| MT | m.14412C>G | CA414822357 | MT-ND6 | c.262G>C (p.Val88Leu) | |
| MT | m.14412C>T | CA414822359 | MT-ND6 | c.262G>A (p.Val88Ile) | |
| MT | m.14413C>A | CA414822361 | MT-ND6 | c.261G>T (p.Glu87Asp) | |
| MT | m.14413C= | CA2499568482 | MT-ND6 | c.261G= (p.Glu87=) | |
| MT | m.14413C>G | CA414822363 | MT-ND6 | c.261G>C (p.Glu87Asp) | |
| MT | m.14413C>T | CA913171617 | MT-ND6 | c.261G>A (p.Glu87=) | dbSNP |
| MT | m.14414T>A | CA414822369 | MT-ND6 | c.260A>T (p.Glu87Val) | |
| MT | m.14414T>C | CA414822367 | MT-ND6 | c.260A>G (p.Glu87Gly) | |
| MT | m.14414T>G | CA414822365 | MT-ND6 | c.260A>C (p.Glu87Ala) | |
| MT | m.14414T= | CA2573327072 | MT-ND6 | c.260A= (p.Glu87=) | |
| MT | m.14415C>A | CA414822371 | MT-ND6 | c.259G>T (p.Glu87Ter) | |
| MT | m.14415C= | CA2573327075 | MT-ND6 | c.259G= (p.Glu87=) | |
| MT | m.14415C>G | CA414822374 | MT-ND6 | c.259G>C (p.Glu87Gln) | |
| MT | m.14415C>T | CA414822375 | MT-ND6 | c.259G>A (p.Glu87Lys) | |
| MT | m.14416A= | CA2573327077 | MT-ND6 | c.258T= (p.Val86=) | |
| MT | m.14416A>C | CA913171618 | MT-ND6 | c.258T>G (p.Val86=) | |
| MT | m.14416A>G | CA913171619 | MT-ND6 | c.258T>C (p.Val86=) | |
| MT | m.14416A>T | CA913171620 | MT-ND6 | c.258T>A (p.Val86=) | |
| MT | m.14417A= | CA2499568483 | MT-ND6 | c.257T= (p.Val86=) | |
| MT | m.14417A>C | CA414822378 | MT-ND6 | c.257T>G (p.Val86Gly) | |
| MT | m.14417A>G | CA337100044 | MT-ND6 | c.257T>C (p.Val86Ala) | ClinVar dbSNP |
| MT | m.14417A>T | CA414822384 | MT-ND6 | c.257T>A (p.Val86Asp) | |
| MT | m.14418C>A | CA414822386 | MT-ND6 | c.256G>T (p.Val86Phe) | |
| MT | m.14418C= | CA2573327081 | MT-ND6 | c.256G= (p.Val86=) | |
| MT | m.14418C>G | CA414822388 | MT-ND6 | c.256G>C (p.Val86Leu) | |
| MT | m.14418C>T | CA414822390 | MT-ND6 | c.256G>A (p.Val86Ile) | |
| MT | m.14419C>A | CA913171621 | MT-ND6 | c.255G>T (p.Gly85=) | |
| MT | m.14419C= | CA2499568484 | MT-ND6 | c.255G= (p.Gly85=) | |
| MT | m.14419C>G | CA913171622 | MT-ND6 | c.255G>C (p.Gly85=) | |
| MT | m.14419C>T | CA913171623 | MT-ND6 | c.255G>A (p.Gly85=) | dbSNP |
| MT | m.14420C>A | CA414822391 | MT-ND6 | c.254G>T (p.Gly85Val) | |
| MT | m.14420C= | CA2499568485 | MT-ND6 | c.254G= (p.Gly85=) | |
| MT | m.14420C>G | CA414822393 | MT-ND6 | c.254G>C (p.Gly85Ala) | |
| MT | m.14420C>T | CA414822395 | MT-ND6 | c.254G>A (p.Gly85Glu) | ClinVar dbSNP |
| MT | m.14421C>A | CA414822397 | MT-ND6 | c.253G>T (p.Gly85Trp) | |
| MT | m.14421C= | CA2573327083 | MT-ND6 | c.253G= (p.Gly85=) | |
| MT | m.14421C>G | CA414822401 | MT-ND6 | c.253G>C (p.Gly85Arg) | |
| MT | m.14421C>T | CA414822399 | MT-ND6 | c.253G>A (p.Gly85Arg) | |
| MT | m.14422T>A | CA913171626 | MT-ND6 | c.252A>T (p.Ser84=) | |
| MT | m.14422T>C | CA913171625 | MT-ND6 | c.252A>G (p.Ser84=) | dbSNP |
| MT | m.14422T>G | CA913171624 | MT-ND6 | c.252A>C (p.Ser84=) | |
| MT | m.14422T= | CA2499568486 | MT-ND6 | c.252A= (p.Ser84=) | |
| MT | m.14423G>A | CA414822403 | MT-ND6 | c.251C>T (p.Ser84Leu) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.14423G>C | CA414822407 | MT-ND6 | c.251C>G (p.Ser84Ter) | |
| MT | m.14423G= | CA2499568487 | MT-ND6 | c.251C= (p.Ser84=) | |
| MT | m.14423G>T | CA414822405 | MT-ND6 | c.251C>A (p.Ser84Ter) | |
| MT | m.14424A= | CA2573327089 | MT-ND6 | c.250T= (p.Ser84=) | |
| MT | m.14424A>C | CA414822409 | MT-ND6 | c.250T>G (p.Ser84Ala) | |
| MT | m.14424A>G | CA414822413 | MT-ND6 | c.250T>C (p.Ser84Pro) | |
| MT | m.14424A>T | CA414822411 | MT-ND6 | c.250T>A (p.Ser84Thr) | |
| MT | m.14425C>A | CA913171627 | MT-ND6 | c.249G>T (p.Gly83=) | |
| MT | m.14425C= | CA2499568488 | MT-ND6 | c.249G= (p.Gly83=) | |
| MT | m.14425C>G | CA913171628 | MT-ND6 | c.249G>C (p.Gly83=) | |
| MT | m.14425C>T | CA913171629 | MT-ND6 | c.249G>A (p.Gly83=) | dbSNP |
| MT | m.14429dup | CA2740098389 | MT-ND6 | c.249dup (p.Ser84ValfsTer4) | |
| MT | m.14426_14429del | CA2740098390 | MT-ND6 | c.246_249del (p.Trp82CysfsTer8) | |
| MT | m.14426C>A | CA414822415 | MT-ND6 | c.248G>T (p.Gly83Val) | |
| MT | m.14426C= | CA2573327095 | MT-ND6 | c.248G= (p.Gly83=) | |
| MT | m.14426C>G | CA414822417 | MT-ND6 | c.248G>C (p.Gly83Ala) | |
| MT | m.14426C>T | CA414822420 | MT-ND6 | c.248G>A (p.Gly83Glu) | |
| MT | m.14427C>A | CA414822422 | MT-ND6 | c.247G>T (p.Gly83Trp) | |
| MT | m.14427C= | CA2573327097 | MT-ND6 | c.247G= (p.Gly83=) | |
| MT | m.14427C>G | CA414822424 | MT-ND6 | c.247G>C (p.Gly83Arg) | |
| MT | m.14427C>T | CA414822426 | MT-ND6 | c.247G>A (p.Gly83Arg) | |
| MT | m.14428C>A | CA414822428 | MT-ND6 | c.246G>T (p.Trp82Cys) | |
| MT | m.14428C= | CA2573327100 | MT-ND6 | c.246G= (p.Trp82=) | |
| MT | m.14428C>G | CA414822430 | MT-ND6 | c.246G>C (p.Trp82Cys) | |
| MT | m.14428C>T | CA414822432 | MT-ND6 | c.246G>A (p.Trp82Ter) | |
| MT | m.14429C>A | CA414822438 | MT-ND6 | c.245G>T (p.Trp82Leu) | |
| MT | m.14429C= | CA2573327102 | MT-ND6 | c.245G= (p.Trp82=) | |
| MT | m.14429C>G | CA414822435 | MT-ND6 | c.245G>C (p.Trp82Ser) | |
| MT | m.14429C>T | CA414822436 | MT-ND6 | c.245G>A (p.Trp82Ter) | |
| MT | m.14430A= | CA2573327103 | MT-ND6 | c.244T= (p.Trp82=) | |
| MT | m.14430A>C | CA414822441 | MT-ND6 | c.244T>G (p.Trp82Gly) | |
| MT | m.14430A>G | CA414822442 | MT-ND6 | c.244T>C (p.Trp82Arg) | |
| MT | m.14430A>T | CA414822444 | MT-ND6 | c.244T>A (p.Trp82Arg) | |
| MT | m.14431T>A | CA913171632 | MT-ND6 | c.243A>T (p.Ala81=) | |
| MT | m.14431T>C | CA913171631 | MT-ND6 | c.243A>G (p.Ala81=) | |
| MT | m.14431T>G | CA913171630 | MT-ND6 | c.243A>C (p.Ala81=) | |
| MT | m.14431T= | CA2573327107 | MT-ND6 | c.243A= (p.Ala81=) | |
| MT | m.14432G>A | CA414822447 | MT-ND6 | c.242C>T (p.Ala81Val) | COSMIC COSMIC |
| MT | m.14432G>C | CA414822448 | MT-ND6 | c.242C>G (p.Ala81Gly) | |
| MT | m.14432G= | CA2573327111 | MT-ND6 | c.242C= (p.Ala81=) | |
| MT | m.14432G>T | CA414822451 | MT-ND6 | c.242C>A (p.Ala81Glu) | |
| MT | m.14433C>A | CA414822455 | MT-ND6 | c.241G>T (p.Ala81Ser) | |
| MT | m.14433C= | CA2499568489 | MT-ND6 | c.241G= (p.Ala81=) | |
| MT | m.14433C>G | CA414822456 | MT-ND6 | c.241G>C (p.Ala81Pro) | |
| MT | m.14433C>T | CA414822458 | MT-ND6 | c.241G>A (p.Ala81Thr) | ClinVar dbSNP |
| MT | m.14434C>A | CA414822461 | MT-ND6 | c.240G>T (p.Glu80Asp) | |
| MT | m.14434C= | CA2499568490 | MT-ND6 | c.240G= (p.Glu80=) | |
| MT | m.14434C>G | CA414822463 | MT-ND6 | c.240G>C (p.Glu80Asp) | |
| MT | m.14434C>T | CA337100046 | MT-ND6 | c.240G>A (p.Glu80=) | dbSNP |
| MT | m.14435T>A | CA414822466 | MT-ND6 | c.239A>T (p.Glu80Val) | |
| MT | m.14435T>C | CA414822467 | MT-ND6 | c.239A>G (p.Glu80Gly) | |
| MT | m.14435T>G | CA414822469 | MT-ND6 | c.239A>C (p.Glu80Ala) | |
| MT | m.14435T= | CA2573327121 | MT-ND6 | c.239A= (p.Glu80=) | |
| MT | m.14436C>A | CA414822472 | MT-ND6 | c.238G>T (p.Glu80Ter) | |
| MT | m.14436C= | CA2573327123 | MT-ND6 | c.238G= (p.Glu80=) | |
| MT | m.14436C>G | CA414822473 | MT-ND6 | c.238G>C (p.Glu80Gln) | |
| MT | m.14436C>T | CA414822475 | MT-ND6 | c.238G>A (p.Glu80Lys) | |
| MT | m.14437A= | CA2573327125 | MT-ND6 | c.237T= (p.Pro79=) | |
| MT | m.14437A>C | CA913171633 | MT-ND6 | c.237T>G (p.Pro79=) | |
| MT | m.14437A>G | CA913171634 | MT-ND6 | c.237T>C (p.Pro79=) | |
| MT | m.14437A>T | CA913171635 | MT-ND6 | c.237T>A (p.Pro79=) | |
| MT | m.14438G>A | CA414822478 | MT-ND6 | c.236C>T (p.Pro79Leu) | dbSNP |
| MT | m.14438G>C | CA414822479 | MT-ND6 | c.236C>G (p.Pro79Arg) | |
| MT | m.14438G= | CA2573327128 | MT-ND6 | c.236C= (p.Pro79=) | |
| MT | m.14438G>T | CA414822480 | MT-ND6 | c.236C>A (p.Pro79His) | |
| MT | m.14439G>A | CA414822484 | MT-ND6 | c.235C>T (p.Pro79Ser) | |
| MT | m.14439G>C | CA414822485 | MT-ND6 | c.235C>G (p.Pro79Ala) | |
| MT | m.14439G= | CA2513146959 | MT-ND6 | c.235C= (p.Pro79=) | |
| MT | m.14439G>T | CA414822487 | MT-ND6 | c.235C>A (p.Pro79Thr) | |
| MT | m.14440A= | CA2573327131 | MT-ND6 | c.234T= (p.Tyr78=) | |
| MT | m.14440A>C | CA414822489 | MT-ND6 | c.234T>G (p.Tyr78Ter) | |
| MT | m.14440A>G | CA913171636 | MT-ND6 | c.234T>C (p.Tyr78=) | dbSNP |
| MT | m.14440A>T | CA414822490 | MT-ND6 | c.234T>A (p.Tyr78Ter) | |
| MT | m.14441T>A | CA414822494 | MT-ND6 | c.233A>T (p.Tyr78Phe) | |
| MT | m.14441T>C | CA414822495 | MT-ND6 | c.233A>G (p.Tyr78Cys) | |
| MT | m.14441T>G | CA414822496 | MT-ND6 | c.233A>C (p.Tyr78Ser) | |
| MT | m.14441T= | CA2573327133 | MT-ND6 | c.233A= (p.Tyr78=) | |
| MT | m.14442A= | CA2573327135 | MT-ND6 | c.232T= (p.Tyr78=) | |
| MT | m.14442A>C | CA414822499 | MT-ND6 | c.232T>G (p.Tyr78Asp) | |
| MT | m.14442A>G | CA414822501 | MT-ND6 | c.232T>C (p.Tyr78His) | |
| MT | m.14442A>T | CA414822502 | MT-ND6 | c.232T>A (p.Tyr78Asn) | |
| MT | m.14443C>A | CA414822505 | MT-ND6 | c.231G>T (p.Glu77Asp) | |
| MT | m.14443C= | CA2499568491 | MT-ND6 | c.231G= (p.Glu77=) | |
| MT | m.14443C>G | CA414822507 | MT-ND6 | c.231G>C (p.Glu77Asp) | |
| MT | m.14443C>T | CA913171637 | MT-ND6 | c.231G>A (p.Glu77=) | dbSNP |
| MT | m.14444T>A | CA414822509 | MT-ND6 | c.230A>T (p.Glu77Val) | |
| MT | m.14444T>C | CA414822510 | MT-ND6 | c.230A>G (p.Glu77Gly) | ClinVar dbSNP |
| MT | m.14444T>G | CA414822513 | MT-ND6 | c.230A>C (p.Glu77Ala) | |
| MT | m.14444T= | CA2499568492 | MT-ND6 | c.230A= (p.Glu77=) | |
| MT | m.14445C>A | CA414822517 | MT-ND6 | c.229G>T (p.Glu77Ter) | |
| MT | m.14445C= | CA2573327146 | MT-ND6 | c.229G= (p.Glu77=) | |
| MT | m.14445C>G | CA414822519 | MT-ND6 | c.229G>C (p.Glu77Gln) | |
| MT | m.14445C>T | CA414822515 | MT-ND6 | c.229G>A (p.Glu77Lys) | |
| MT | m.14446C>A | CA414822521 | MT-ND6 | c.228G>T (p.Glu76Asp) | |
| MT | m.14446C= | CA2573327148 | MT-ND6 | c.228G= (p.Glu76=) | |
| MT | m.14446C>G | CA414822523 | MT-ND6 | c.228G>C (p.Glu76Asp) | |
| MT | m.14446C>T | CA913171638 | MT-ND6 | c.228G>A (p.Glu76=) | |
| MT | m.14447T>A | CA414822525 | MT-ND6 | c.227A>T (p.Glu76Val) | |
| MT | m.14447T>C | CA414822526 | MT-ND6 | c.227A>G (p.Glu76Gly) | |
| MT | m.14447T>G | CA414822529 | MT-ND6 | c.227A>C (p.Glu76Ala) | |
| MT | m.14447T= | CA2573327152 | MT-ND6 | c.227A= (p.Glu76=) | |
| MT | m.14448C>A | CA414822530 | MT-ND6 | c.226G>T (p.Glu76Ter) | |
| MT | m.14448C= | CA2573327154 | MT-ND6 | c.226G= (p.Glu76=) | |
| MT | m.14448C>G | CA414822532 | MT-ND6 | c.226G>C (p.Glu76Gln) | |
| MT | m.14448C>T | CA414822534 | MT-ND6 | c.226G>A (p.Glu76Lys) | |
| MT | m.14449A= | CA2573327156 | MT-ND6 | c.225T= (p.Ile75=) | |
| MT | m.14449A>C | CA414822536 | MT-ND6 | c.225T>G (p.Ile75Met) | |
| MT | m.14449A>G | CA913171639 | MT-ND6 | c.225T>C (p.Ile75=) | |
| MT | m.14449A>T | CA913171640 | MT-ND6 | c.225T>A (p.Ile75=) | |
| MT | m.14450A= | CA2573327158 | MT-ND6 | c.224T= (p.Ile75=) | |
| MT | m.14450A>C | CA414822539 | MT-ND6 | c.224T>G (p.Ile75Ser) | |
| MT | m.14450A>G | CA414822540 | MT-ND6 | c.224T>C (p.Ile75Thr) | |
| MT | m.14450A>T | CA414822542 | MT-ND6 | c.224T>A (p.Ile75Asn) | |
| MT | m.14451T>A | CA414822548 | MT-ND6 | c.223A>T (p.Ile75Phe) | |
| MT | m.14451T>C | CA414822546 | MT-ND6 | c.223A>G (p.Ile75Val) | |
| MT | m.14451T>G | CA414822545 | MT-ND6 | c.223A>C (p.Ile75Leu) | |
| MT | m.14451T= | CA2573327161 | MT-ND6 | c.223A= (p.Ile75=) | |
| MT | m.14452A= | CA2499568493 | MT-ND6 | c.222T= (p.Ala74=) | |
| MT | m.14452A>C | CA913171641 | MT-ND6 | c.222T>G (p.Ala74=) | |
| MT | m.14452A>G | CA337100048 | MT-ND6 | c.222T>C (p.Ala74=) | dbSNP |
| MT | m.14452A>T | CA913171642 | MT-ND6 | c.222T>A (p.Ala74=) | |
| MT | m.14453G>A | CA254853 | MT-ND6 | c.221C>T (p.Ala74Val) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.14453G>C | CA414822552 | MT-ND6 | c.221C>G (p.Ala74Gly) | |
| MT | m.14453G= | CA2499568494 | MT-ND6 | c.221C= (p.Ala74=) | |
| MT | m.14453G>T | CA414822554 | MT-ND6 | c.221C>A (p.Ala74Asp) | |
| MT | m.14454C>A | CA414822556 | MT-ND6 | c.220G>T (p.Ala74Ser) | |
| MT | m.14454C= | CA2573327165 | MT-ND6 | c.220G= (p.Ala74=) | |
| MT | m.14454C>G | CA414822557 | MT-ND6 | c.220G>C (p.Ala74Pro) | |
| MT | m.14454C>T | CA414822559 | MT-ND6 | c.220G>A (p.Ala74Thr) | |
| MT | m.14455C>A | CA414822562 | MT-ND6 | c.219G>T (p.Met73Ile) | |
| MT | m.14455C= | CA2499568495 | MT-ND6 | c.219G= (p.Met73=) | |
| MT | m.14455C>G | CA414822563 | MT-ND6 | c.219G>C (p.Met73Ile) | |
| MT | m.14455C>T | CA414822566 | MT-ND6 | c.219G>A (p.Met73Ile) | dbSNP |
| MT | m.14456A= | CA2573327167 | MT-ND6 | c.218T= (p.Met73=) | |
| MT | m.14456A>C | CA414822568 | MT-ND6 | c.218T>G (p.Met73Arg) | |
| MT | m.14456A>G | CA414822569 | MT-ND6 | c.218T>C (p.Met73Thr) | |
| MT | m.14456A>T | CA414822571 | MT-ND6 | c.218T>A (p.Met73Lys) | |
| MT | m.14457T>A | CA414822575 | MT-ND6 | c.217A>T (p.Met73Leu) | |
| MT | m.14457T>C | CA414822576 | MT-ND6 | c.217A>G (p.Met73Val) | |
| MT | m.14457T>G | CA414822574 | MT-ND6 | c.217A>C (p.Met73Leu) | |
| MT | m.14457T= | CA2573327169 | MT-ND6 | c.217A= (p.Met73=) | |
| MT | m.14458C>A | CA913171643 | MT-ND6 | c.216G>T (p.Ala72=) | |
| MT | m.14458C= | CA2573327171 | MT-ND6 | c.216G= (p.Ala72=) | |
| MT | m.14458C>G | CA913171644 | MT-ND6 | c.216G>C (p.Ala72=) | |
| MT | m.14458C>T | CA913171645 | MT-ND6 | c.216G>A (p.Ala72=) | |
| MT | m.14459G>A | CA120625 | MT-ND6 | c.215C>T (p.Ala72Val) | ClinVar dbSNP |
| MT | m.14459G>C | CA414822580 | MT-ND6 | c.215C>G (p.Ala72Gly) | |
| MT | m.14459G= | CA2499568496 | MT-ND6 | c.215C= (p.Ala72=) | |
| MT | m.14459G>T | CA414822581 | MT-ND6 | c.215C>A (p.Ala72Glu) | |
| MT | m.14460C>A | CA414822585 | MT-ND6 | c.214G>T (p.Ala72Ser) | |
| MT | m.14460C= | CA2513056905 | MT-ND6 | c.214G= (p.Ala72=) | |
| MT | m.14460C>G | CA414822586 | MT-ND6 | c.214G>C (p.Ala72Pro) | |
| MT | m.14460C>T | CA414822588 | MT-ND6 | c.214G>A (p.Ala72Thr) | |
| MT | m.14461T>A | CA913171646 | MT-ND6 | c.213A>T (p.Thr71=) | dbSNP |
| MT | m.14461T>C | CA913171647 | MT-ND6 | c.213A>G (p.Thr71=) | dbSNP |
| MT | m.14461T>G | CA913171648 | MT-ND6 | c.213A>C (p.Thr71=) | |
| MT | m.14461T= | CA2499568497 | MT-ND6 | c.213A= (p.Thr71=) | |
| MT | m.14462G>A | CA414822590 | MT-ND6 | c.212C>T (p.Thr71Ile) | ClinVar dbSNP |
| MT | m.14462G>C | CA414822591 | MT-ND6 | c.212C>G (p.Thr71Arg) | |
| MT | m.14462G= | CA2499568498 | MT-ND6 | c.212C= (p.Thr71=) | |
| MT | m.14462G>T | CA414822594 | MT-ND6 | c.212C>A (p.Thr71Lys) | |
| MT | m.14463T>A | CA414822596 | MT-ND6 | c.211A>T (p.Thr71Ser) | |
| MT | m.14463T>C | CA414822597 | MT-ND6 | c.211A>G (p.Thr71Ala) | |
| MT | m.14463T>G | CA414822599 | MT-ND6 | c.211A>C (p.Thr71Pro) | |
| MT | m.14463T= | CA2573327181 | MT-ND6 | c.211A= (p.Thr71=) | |
| MT | m.14464A= | CA2573327182 | MT-ND6 | c.210T= (p.Thr70=) | |
| MT | m.14464A>C | CA913171649 | MT-ND6 | c.210T>G (p.Thr70=) | |
| MT | m.14464A>G | CA913171650 | MT-ND6 | c.210T>C (p.Thr70=) | dbSNP |
| MT | m.14464A>T | CA913171651 | MT-ND6 | c.210T>A (p.Thr70=) | |
| MT | m.14465G>A | CA414822605 | MT-ND6 | c.209C>T (p.Thr70Ile) | ClinVar dbSNP |
| MT | m.14465G>C | CA414822601 | MT-ND6 | c.209C>G (p.Thr70Ser) | |
| MT | m.14465G= | CA2499568499 | MT-ND6 | c.209C= (p.Thr70=) | |
| MT | m.14465G>T | CA414822603 | MT-ND6 | c.209C>A (p.Thr70Asn) | COSMIC COSMIC |
| MT | m.14466T>A | CA414822607 | MT-ND6 | c.208A>T (p.Thr70Ser) | |
| MT | m.14466T>C | CA414822609 | MT-ND6 | c.208A>G (p.Thr70Ala) | ClinVar dbSNP |
| MT | m.14466T>G | CA414822611 | MT-ND6 | c.208A>C (p.Thr70Pro) | |
| MT | m.14466T= | CA2499568500 | MT-ND6 | c.208A= (p.Thr70=) | |
| MT | m.14467A= | CA2499568501 | MT-ND6 | c.207T= (p.Tyr69=) | |
| MT | m.14467A>C | CA414822613 | MT-ND6 | c.207T>G (p.Tyr69Ter) | |
| MT | m.14467A>G | CA913171652 | MT-ND6 | c.207T>C (p.Tyr69=) | dbSNP |
| MT | m.14467A>T | CA414822614 | MT-ND6 | c.207T>A (p.Tyr69Ter) | |
| MT | m.14468T>A | CA414822617 | MT-ND6 | c.206A>T (p.Tyr69Phe) | |
| MT | m.14468T>C | CA414822619 | MT-ND6 | c.206A>G (p.Tyr69Cys) | ClinVar dbSNP |
| MT | m.14468T>G | CA414822620 | MT-ND6 | c.206A>C (p.Tyr69Ser) | |
| MT | m.14468T= | CA2499568502 | MT-ND6 | c.206A= (p.Tyr69=) | |
| MT | m.14469A= | CA2513272137 | MT-ND6 | c.205T= (p.Tyr69=) | |
| MT | m.14469A>C | CA414822623 | MT-ND6 | c.205T>G (p.Tyr69Asp) | |
| MT | m.14469A>G | CA414822624 | MT-ND6 | c.205T>C (p.Tyr69His) | COSMIC COSMIC |
| MT | m.14469A>T | CA414822626 | MT-ND6 | c.205T>A (p.Tyr69Asn) | |
| MT | m.14470T>A | CA10581362 | MT-ND6 | c.204A>T (p.Gly68=) | ClinVar dbSNP |
| MT | m.14470T>C | CA337100052 | MT-ND6 | c.204A>G (p.Gly68=) | dbSNP |
| MT | m.14470T>G | CA913171653 | MT-ND6 | c.204A>C (p.Gly68=) | dbSNP |
| MT | m.14470T= | CA2499568503 | MT-ND6 | c.204A= (p.Gly68=) | |
| MT | m.14471C>A | CA414822631 | MT-ND6 | c.203G>T (p.Gly68Val) | |
| MT | m.14471C= | CA2573327203 | MT-ND6 | c.203G= (p.Gly68=) | |
| MT | m.14471C>G | CA414822634 | MT-ND6 | c.203G>C (p.Gly68Ala) | |
| MT | m.14471C>T | CA414822633 | MT-ND6 | c.203G>A (p.Gly68Glu) | |
| MT | m.14472C>A | CA414822637 | MT-ND6 | c.202G>T (p.Gly68Ter) | |
| MT | m.14472C= | CA2573327204 | MT-ND6 | c.202G= (p.Gly68=) | |
| MT | m.14472C>G | CA414822640 | MT-ND6 | c.202G>C (p.Gly68Arg) | |
| MT | m.14472C>T | CA414822638 | MT-ND6 | c.202G>A (p.Gly68Arg) | |
| MT | m.14473A= | CA2573327207 | MT-ND6 | c.201T= (p.Phe67=) | |
| MT | m.14473A>C | CA414822643 | MT-ND6 | c.201T>G (p.Phe67Leu) | |
| MT | m.14473A>G | CA913171654 | MT-ND6 | c.201T>C (p.Phe67=) | |
| MT | m.14473A>T | CA414822644 | MT-ND6 | c.201T>A (p.Phe67Leu) | |
| MT | m.14474A= | CA2573327210 | MT-ND6 | c.200T= (p.Phe67=) | |
| MT | m.14474A>C | CA414822646 | MT-ND6 | c.200T>G (p.Phe67Cys) | |
| MT | m.14474A>G | CA414822648 | MT-ND6 | c.200T>C (p.Phe67Ser) | |
| MT | m.14474A>T | CA414822650 | MT-ND6 | c.200T>A (p.Phe67Tyr) | |
| MT | m.14475A= | CA2513612904 | MT-ND6 | c.199T= (p.Phe67=) | |
| MT | m.14475A>C | CA414822651 | MT-ND6 | c.199T>G (p.Phe67Val) | |
| MT | m.14475A>G | CA414822654 | MT-ND6 | c.199T>C (p.Phe67Leu) | |
| MT | m.14475A>T | CA414822656 | MT-ND6 | c.199T>A (p.Phe67Ile) | |
| MT | m.14476G>A | CA16603228 | MT-ND6 | c.198C>T (p.Val66=) | ClinVar dbSNP |
| MT | m.14476G>C | CA913171655 | MT-ND6 | c.198C>G (p.Val66=) | |
| MT | m.14476G= | CA2499568504 | MT-ND6 | c.198C= (p.Val66=) | |
| MT | m.14476G>T | CA913171656 | MT-ND6 | c.198C>A (p.Val66=) | dbSNP |
| MT | m.14477A= | CA2499568505 | MT-ND6 | c.197T= (p.Val66=) | |
| MT | m.14477A>C | CA414822657 | MT-ND6 | c.197T>G (p.Val66Gly) | |
| MT | m.14477A>G | CA414822659 | MT-ND6 | c.197T>C (p.Val66Ala) | ClinVar dbSNP |
| MT | m.14477A>T | CA414822661 | MT-ND6 | c.197T>A (p.Val66Asp) | |
| MT | m.14478C>A | CA414822664 | MT-ND6 | c.196G>T (p.Val66Phe) | |
| MT | m.14478C= | CA2573327217 | MT-ND6 | c.196G= (p.Val66=) | |
| MT | m.14478C>G | CA414822666 | MT-ND6 | c.196G>C (p.Val66Leu) | |
| MT | m.14478C>T | CA414822668 | MT-ND6 | c.196G>A (p.Val66Ile) | |
| MT | m.14479A= | CA2573327218 | MT-ND6 | c.195T= (p.Val65=) | |
| MT | m.14479A>C | CA913171657 | MT-ND6 | c.195T>G (p.Val65=) | |
| MT | m.14479A>G | CA913171658 | MT-ND6 | c.195T>C (p.Val65=) | |
| MT | m.14479A>T | CA913171659 | MT-ND6 | c.195T>A (p.Val65=) | |
| MT | m.14480A= | CA2573327221 | MT-ND6 | c.194T= (p.Val65=) | |
| MT | m.14480A>C | CA414822674 | MT-ND6 | c.194T>G (p.Val65Gly) | |
| MT | m.14480A>G | CA414822672 | MT-ND6 | c.194T>C (p.Val65Ala) | |
| MT | m.14480A>T | CA414822670 | MT-ND6 | c.194T>A (p.Val65Asp) | |
| MT | m.14481C>A | CA414822676 | MT-ND6 | c.193G>T (p.Val65Phe) | |
| MT | m.14481C= | CA2573327222 | MT-ND6 | c.193G= (p.Val65=) | |
| MT | m.14481C>G | CA414822678 | MT-ND6 | c.193G>C (p.Val65Leu) | |
| MT | m.14481C>T | CA414822680 | MT-ND6 | c.193G>A (p.Val65Ile) | |
| MT | m.14482C>A | CA340934 | MT-ND6 | c.192G>T (p.Met64Ile) | ClinVar dbSNP |
| MT | m.14482C= | CA2499568506 | MT-ND6 | c.192G= (p.Met64=) | |
| MT | m.14482C>G | CA344824 | MT-ND6 | c.192G>C (p.Met64Ile) | ClinVar dbSNP |
| MT | m.14482C>T | CA414822684 | MT-ND6 | c.192G>A (p.Met64Ile) | dbSNP |
| MT | m.14483A= | CA2499568507 | MT-ND6 | c.191T= (p.Met64=) | |
| MT | m.14483A>C | CA414822687 | MT-ND6 | c.191T>G (p.Met64Arg) | |
| MT | m.14483A>G | CA414822689 | MT-ND6 | c.191T>C (p.Met64Thr) | dbSNP |
| MT | m.14483A>T | CA414822690 | MT-ND6 | c.191T>A (p.Met64Lys) | |
| MT | m.14484T>A | CA414822693 | MT-ND6 | c.190A>T (p.Met64Leu) | |
| MT | m.14484T>C | CA340932 | MT-ND6 | c.190A>G (p.Met64Val) | ClinVar dbSNP |
| MT | m.14484T>G | CA414822695 | MT-ND6 | c.190A>C (p.Met64Leu) | ClinVar dbSNP |
| MT | m.14484T= | CA2499568508 | MT-ND6 | c.190A= (p.Met64=) | |
| MT | m.14485C>A | CA337100059 | MT-ND6 | c.189G>T (p.Met63Ile) | |
| MT | m.14485C= | CA2499568509 | MT-ND6 | c.189G= (p.Met63=) | |
| MT | m.14485C>G | CA337100066 | MT-ND6 | c.189G>C (p.Met63Ile) | |
| MT | m.14485C>T | CA414822699 | MT-ND6 | c.189G>A (p.Met63Ile) | dbSNP |
| MT | m.14486A= | CA2573327232 | MT-ND6 | c.188T= (p.Met63=) | |
| MT | m.14486A>C | CA414822703 | MT-ND6 | c.188T>G (p.Met63Arg) | |
| MT | m.14486A>G | CA414822704 | MT-ND6 | c.188T>C (p.Met63Thr) | |
| MT | m.14486A>T | CA414822706 | MT-ND6 | c.188T>A (p.Met63Lys) | |
| MT | m.14487T>A | CA414822709 | MT-ND6 | c.187A>T (p.Met63Leu) | |
| MT | m.14487T>C | CA120627 | MT-ND6 | c.187A>G (p.Met63Val) | ClinVar dbSNP |
| MT | m.14487T>G | CA414822712 | MT-ND6 | c.187A>C (p.Met63Leu) | |
| MT | m.14487T= | CA2499568510 | MT-ND6 | c.187A= (p.Met63=) | |
| MT | m.14488T>A | CA913171660 | MT-ND6 | c.186A>T (p.Gly62=) | |
| MT | m.14488T>C | CA913171661 | MT-ND6 | c.186A>G (p.Gly62=) | dbSNP |
| MT | m.14488T>G | CA913171662 | MT-ND6 | c.186A>C (p.Gly62=) | |
| MT | m.14488T= | CA2499568511 | MT-ND6 | c.186A= (p.Gly62=) | |
| MT | m.14489C>A | CA414822714 | MT-ND6 | c.185G>T (p.Gly62Val) | |
| MT | m.14489C= | CA2573327236 | MT-ND6 | c.185G= (p.Gly62=) | |
| MT | m.14489C>G | CA414822716 | MT-ND6 | c.185G>C (p.Gly62Ala) | |
| MT | m.14489C>T | CA414822718 | MT-ND6 | c.185G>A (p.Gly62Glu) | |
| MT | m.14493dup | CA2573105303 | MT-ND6 | c.185dup (p.Met63AsnfsTer14) | |
| MT | m.14490C>A | CA414822721 | MT-ND6 | c.184G>T (p.Gly62Ter) | |
| MT | m.14490C= | CA2573327238 | MT-ND6 | c.184G= (p.Gly62=) | |
| MT | m.14490C>G | CA414822722 | MT-ND6 | c.184G>C (p.Gly62Arg) | |
| MT | m.14490C>T | CA414822724 | MT-ND6 | c.184G>A (p.Gly62Arg) | |
| MT | m.14491C>A | CA913171665 | MT-ND6 | c.183G>T (p.Gly61=) | |
| MT | m.14491C= | CA2573327241 | MT-ND6 | c.183G= (p.Gly61=) | |
| MT | m.14491C>G | CA913171664 | MT-ND6 | c.183G>C (p.Gly61=) | |
| MT | m.14491C>T | CA913171663 | MT-ND6 | c.183G>A (p.Gly61=) | |
| MT | m.14492C>A | CA414822725 | MT-ND6 | c.182G>T (p.Gly61Val) | |
| MT | m.14492C= | CA2573327243 | MT-ND6 | c.182G= (p.Gly61=) | |
| MT | m.14492C>G | CA414822729 | MT-ND6 | c.182G>C (p.Gly61Ala) | |
| MT | m.14492C>T | CA414822727 | MT-ND6 | c.182G>A (p.Gly61Glu) | |
| MT | m.14493C>A | CA414822731 | MT-ND6 | c.181G>T (p.Gly61Trp) | |
| MT | m.14493C= | CA2573327246 | MT-ND6 | c.181G= (p.Gly61=) | |
| MT | m.14493C>G | CA414822733 | MT-ND6 | c.181G>C (p.Gly61Arg) | |
| MT | m.14493C>T | CA414822735 | MT-ND6 | c.181G>A (p.Gly61Arg) |