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.3380G>A | CA414772659 | MT-ND1 | c.74G>A (p.Arg25Gln) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.3380G>C | CA414772660 | MT-ND1 | c.74G>C (p.Arg25Pro) | |
| MT | m.3380G= | CA2499563402 | MT-ND1 | c.74G= (p.Arg25=) | |
| MT | m.3380G>T | CA414772661 | MT-ND1 | c.74G>T (p.Arg25Leu) | |
| MT | m.3381A= | CA2499563403 | MT-ND1 | c.75A= (p.Arg25=) | |
| MT | m.3381A>C | CA913169284 | MT-ND1 | c.75A>C (p.Arg25=) | |
| MT | m.3381A>G | CA913169285 | MT-ND1 | c.75A>G (p.Arg25=) | dbSNP |
| MT | m.3381A>T | CA913169286 | MT-ND1 | c.75A>T (p.Arg25=) | |
| MT | m.3382A= | CA2573327376 | MT-ND1 | c.76A= (p.Lys26=) | |
| MT | m.3382A>C | CA414772664 | MT-ND1 | c.76A>C (p.Lys26Gln) | |
| MT | m.3382A>G | CA414772663 | MT-ND1 | c.76A>G (p.Lys26Glu) | |
| MT | m.3382A>T | CA414772662 | MT-ND1 | c.76A>T (p.Lys26Ter) | |
| MT | m.3383A= | CA2573327378 | MT-ND1 | c.77A= (p.Lys26=) | |
| MT | m.3383A>C | CA414772665 | MT-ND1 | c.77A>C (p.Lys26Thr) | |
| MT | m.3383A>G | CA414772666 | MT-ND1 | c.77A>G (p.Lys26Arg) | |
| MT | m.3383A>T | CA414772667 | MT-ND1 | c.77A>T (p.Lys26Ile) | |
| MT | m.3383_3384insT | CA2573104436 | MT-ND1 | c.77_78insT (p.Lys26AsnfsTer26) | |
| MT | m.3384A= | CA2499563404 | MT-ND1 | c.78A= (p.Lys26=) | |
| MT | m.3384A>C | CA414772668 | MT-ND1 | c.78A>C (p.Lys26Asn) | |
| MT | m.3384A>G | CA337096518 | MT-ND1 | c.78A>G (p.Lys26=) | dbSNP |
| MT | m.3384A>T | CA414772669 | MT-ND1 | c.78A>T (p.Lys26Asn) | |
| MT | m.3385A= | CA2499563405 | MT-ND1 | c.79A= (p.Ile27=) | |
| MT | m.3385A>C | CA414772670 | MT-ND1 | c.79A>C (p.Ile27Leu) | |
| MT | m.3385A>G | CA337096520 | MT-ND1 | c.79A>G (p.Ile27Val) | ClinVar dbSNP |
| MT | m.3385A>T | CA414772671 | MT-ND1 | c.79A>T (p.Ile27Phe) | |
| MT | m.3386T>A | CA414772672 | MT-ND1 | c.80T>A (p.Ile27Asn) | |
| MT | m.3386T>C | CA414772673 | MT-ND1 | c.80T>C (p.Ile27Thr) | |
| MT | m.3386T>G | CA414772674 | MT-ND1 | c.80T>G (p.Ile27Ser) | |
| MT | m.3386T= | CA2573327386 | MT-ND1 | c.80T= (p.Ile27=) | |
| MT | m.3387T>A | CA913169290 | MT-ND1 | c.81T>A (p.Ile27=) | |
| MT | m.3387T>C | CA913169289 | MT-ND1 | c.81T>C (p.Ile27=) | dbSNP |
| MT | m.3387T>G | CA414772675 | MT-ND1 | c.81T>G (p.Ile27Met) | dbSNP |
| MT | m.3387T= | CA2499563406 | MT-ND1 | c.81T= (p.Ile27=) | |
| MT | m.3388C>A | CA259736 | MT-ND1 | c.82C>A (p.Leu28Ile) | ClinVar dbSNP |
| MT | m.3388C= | CA2499563407 | MT-ND1 | c.82C= (p.Leu28=) | |
| MT | m.3388C>G | CA414772676 | MT-ND1 | c.82C>G (p.Leu28Val) | |
| MT | m.3388C>T | CA913169292 | MT-ND1 | c.82C>T (p.Leu28=) | dbSNP |
| MT | m.3389T>A | CA414772677 | MT-ND1 | c.83T>A (p.Leu28Gln) | |
| MT | m.3389T>C | CA414772678 | MT-ND1 | c.83T>C (p.Leu28Pro) | |
| MT | m.3389T>G | CA414772679 | MT-ND1 | c.83T>G (p.Leu28Arg) | |
| MT | m.3389T= | CA2573327394 | MT-ND1 | c.83T= (p.Leu28=) | |
| MT | m.3390A= | CA2499563408 | MT-ND1 | c.84A= (p.Leu28=) | |
| MT | m.3390A>C | CA913169293 | MT-ND1 | c.84A>C (p.Leu28=) | |
| MT | m.3390A>G | CA913169294 | MT-ND1 | c.84A>G (p.Leu28=) | dbSNP |
| MT | m.3390A>T | CA913169295 | MT-ND1 | c.84A>T (p.Leu28=) | |
| MT | m.3391G>A | CA414772680 | MT-ND1 | c.85G>A (p.Gly29Ser) | ClinVar dbSNP |
| MT | m.3391G>C | CA414772681 | MT-ND1 | c.85G>C (p.Gly29Arg) | |
| MT | m.3391G= | CA2499563409 | MT-ND1 | c.85G= (p.Gly29=) | |
| MT | m.3391G>T | CA414772682 | MT-ND1 | c.85G>T (p.Gly29Cys) | |
| MT | m.3392G>A | CA414772683 | MT-ND1 | c.86G>A (p.Gly29Asp) | |
| MT | m.3392G>C | CA414772684 | MT-ND1 | c.86G>C (p.Gly29Ala) | dbSNP |
| MT | m.3392G= | CA2499563410 | MT-ND1 | c.86G= (p.Gly29=) | |
| MT | m.3392G>T | CA414772685 | MT-ND1 | c.86G>T (p.Gly29Val) | |
| MT | m.3393C>A | CA913169298 | MT-ND1 | c.87C>A (p.Gly29=) | |
| MT | m.3393C= | CA2499563411 | MT-ND1 | c.87C= (p.Gly29=) | |
| MT | m.3393C>G | CA913169297 | MT-ND1 | c.87C>G (p.Gly29=) | |
| MT | m.3393C>T | CA913169299 | MT-ND1 | c.87C>T (p.Gly29=) | dbSNP |
| MT | m.3394T>A | CA414772686 | MT-ND1 | c.88T>A (p.Tyr30Asn) | |
| MT | m.3394T>C | CA340944 | MT-ND1 | c.88T>C (p.Tyr30His) | ClinVar dbSNP |
| MT | m.3394T>G | CA414772687 | MT-ND1 | c.88T>G (p.Tyr30Asp) | |
| MT | m.3394T= | CA2499563412 | MT-ND1 | c.88T= (p.Tyr30=) | |
| MT | m.3398_3399del | CA2740098094 | MT-ND1 | c.92_93del (p.Ile31ThrfsTer20) | |
| MT | m.3395A= | CA2499563413 | MT-ND1 | c.89A= (p.Tyr30=) | |
| MT | m.3395A>C | CA414772688 | MT-ND1 | c.89A>C (p.Tyr30Ser) | ClinVar dbSNP |
| MT | m.3395A>G | CA414772690 | MT-ND1 | c.89A>G (p.Tyr30Cys) | ClinVar dbSNP |
| MT | m.3395A>T | CA414772689 | MT-ND1 | c.89A>T (p.Tyr30Phe) | |
| MT | m.3396T>A | CA414772691 | MT-ND1 | c.90T>A (p.Tyr30Ter) | |
| MT | m.3396T>C | CA10581299 | MT-ND1 | c.90T>C (p.Tyr30=) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.3396T>G | CA414772692 | MT-ND1 | c.90T>G (p.Tyr30Ter) | |
| MT | m.3396T= | CA2499563414 | MT-ND1 | c.90T= (p.Tyr30=) | |
| MT | m.3397A= | CA2499563415 | MT-ND1 | c.91A= (p.Ile31=) | |
| MT | m.3397A>C | CA414772693 | MT-ND1 | c.91A>C (p.Ile31Leu) | |
| MT | m.3397A>G | CA254859 | MT-ND1 | c.91A>G (p.Ile31Val) | ClinVar dbSNP |
| MT | m.3397A>T | CA414772694 | MT-ND1 | c.91A>T (p.Ile31Leu) | |
| MT | m.3398T>A | CA414772695 | MT-ND1 | c.92T>A (p.Ile31Lys) | |
| MT | m.3398T>C | CA337096526 | MT-ND1 | c.92T>C (p.Ile31Thr) | ClinVar dbSNP |
| MT | m.3398T>G | CA414772696 | MT-ND1 | c.92T>G (p.Ile31Arg) | |
| MT | m.3398T= | CA2499563416 | MT-ND1 | c.92T= (p.Ile31=) | |
| MT | m.3399A= | CA2499563417 | MT-ND1 | c.93A= (p.Ile31=) | |
| MT | m.3399A>C | CA913169300 | MT-ND1 | c.93A>C (p.Ile31=) | dbSNP |
| MT | m.3399A>G | CA414772697 | MT-ND1 | c.93A>G (p.Ile31Met) | dbSNP |
| MT | m.3399A>T | CA337096528 | MT-ND1 | c.93A>T (p.Ile31=) | ClinVar dbSNP |
| MT | m.3400C>A | CA414772700 | MT-ND1 | c.94C>A (p.Gln32Lys) | |
| MT | m.3400C= | CA2573327423 | MT-ND1 | c.94C= (p.Gln32=) | |
| MT | m.3400C>G | CA414772698 | MT-ND1 | c.94C>G (p.Gln32Glu) | |
| MT | m.3400C>T | CA414772699 | MT-ND1 | c.94C>T (p.Gln32Ter) | |
| MT | m.3401A= | CA2573327426 | MT-ND1 | c.95A= (p.Gln32=) | |
| MT | m.3401A>C | CA414772701 | MT-ND1 | c.95A>C (p.Gln32Pro) | |
| MT | m.3401A>G | CA414772702 | MT-ND1 | c.95A>G (p.Gln32Arg) | |
| MT | m.3401A>T | CA414772703 | MT-ND1 | c.95A>T (p.Gln32Leu) | |
| MT | m.3402A= | CA2573327431 | MT-ND1 | c.96A= (p.Gln32=) | |
| MT | m.3402A>C | CA414772704 | MT-ND1 | c.96A>C (p.Gln32His) | |
| MT | m.3402A>G | CA913169304 | MT-ND1 | c.96A>G (p.Gln32=) | |
| MT | m.3402A>T | CA414772705 | MT-ND1 | c.96A>T (p.Gln32His) | |
| MT | m.3403C>A | CA414772706 | MT-ND1 | c.97C>A (p.Leu33Ile) | |
| MT | m.3403C= | CA2573327436 | MT-ND1 | c.97C= (p.Leu33=) | |
| MT | m.3403C>G | CA414772707 | MT-ND1 | c.97C>G (p.Leu33Val) | |
| MT | m.3403C>T | CA913169306 | MT-ND1 | c.97C>T (p.Leu33=) | |
| MT | m.3404T>A | CA414772708 | MT-ND1 | c.98T>A (p.Leu33Gln) | |
| MT | m.3404T>C | CA414772709 | MT-ND1 | c.98T>C (p.Leu33Pro) | |
| MT | m.3404T>G | CA414772710 | MT-ND1 | c.98T>G (p.Leu33Arg) | |
| MT | m.3404T= | CA2573327440 | MT-ND1 | c.98T= (p.Leu33=) | |
| MT | m.3405A= | CA2573327443 | MT-ND1 | c.99A= (p.Leu33=) | |
| MT | m.3405A>C | CA913169312 | MT-ND1 | c.99A>C (p.Leu33=) | |
| MT | m.3405A>G | CA913169309 | MT-ND1 | c.99A>G (p.Leu33=) | |
| MT | m.3405A>T | CA913169310 | MT-ND1 | c.99A>T (p.Leu33=) | |
| MT | m.3406C>A | CA414772712 | MT-ND1 | c.100C>A (p.Arg34Ser) | |
| MT | m.3406C= | CA2573327448 | MT-ND1 | c.100C= (p.Arg34=) | |
| MT | m.3406C>G | CA414772713 | MT-ND1 | c.100C>G (p.Arg34Gly) | |
| MT | m.3406C>T | CA414772711 | MT-ND1 | c.100C>T (p.Arg34Cys) | |
| MT | m.3407G>A | CA414772717 | MT-ND1 | c.101G>A (p.Arg34His) | dbSNP |
| MT | m.3407G>C | CA414772715 | MT-ND1 | c.101G>C (p.Arg34Pro) | |
| MT | m.3407G= | CA2499563418 | MT-ND1 | c.101G= (p.Arg34=) | |
| MT | m.3407G>T | CA414772718 | MT-ND1 | c.101G>T (p.Arg34Leu) | |
| MT | m.3408C>A | CA913169317 | MT-ND1 | c.102C>A (p.Arg34=) | |
| MT | m.3408C= | CA2499563419 | MT-ND1 | c.102C= (p.Arg34=) | |
| MT | m.3408C>G | CA913169314 | MT-ND1 | c.102C>G (p.Arg34=) | |
| MT | m.3408C>T | CA913169315 | MT-ND1 | c.102C>T (p.Arg34=) | dbSNP |
| MT | m.3409A= | CA2573327456 | MT-ND1 | c.103A= (p.Lys35=) | |
| MT | m.3409A>C | CA414772719 | MT-ND1 | c.103A>C (p.Lys35Gln) | |
| MT | m.3409A>G | CA414772720 | MT-ND1 | c.103A>G (p.Lys35Glu) | |
| MT | m.3409A>T | CA414772721 | MT-ND1 | c.103A>T (p.Lys35Ter) | |
| MT | m.3411del | CA2573104437 | MT-ND1 | c.105del (p.Gly36AlafsTer5) | |
| MT | m.3410A= | CA2573327460 | MT-ND1 | c.104A= (p.Lys35=) | |
| MT | m.3410A>C | CA414772722 | MT-ND1 | c.104A>C (p.Lys35Thr) | |
| MT | m.3410A>G | CA414772723 | MT-ND1 | c.104A>G (p.Lys35Arg) | |
| MT | m.3410A>T | CA414772724 | MT-ND1 | c.104A>T (p.Lys35Ile) | |
| MT | m.3411A= | CA2499563420 | MT-ND1 | c.105A= (p.Lys35=) | |
| MT | m.3411A>C | CA414772725 | MT-ND1 | c.105A>C (p.Lys35Asn) | |
| MT | m.3411A>G | CA913169320 | MT-ND1 | c.105A>G (p.Lys35=) | dbSNP |
| MT | m.3411A>T | CA414772726 | MT-ND1 | c.105A>T (p.Lys35Asn) | |
| MT | m.3412G>A | CA414772727 | MT-ND1 | c.106G>A (p.Gly36Ser) | |
| MT | m.3412G>C | CA414772728 | MT-ND1 | c.106G>C (p.Gly36Arg) | |
| MT | m.3412G= | CA2573327464 | MT-ND1 | c.106G= (p.Gly36=) | |
| MT | m.3412G>T | CA414772729 | MT-ND1 | c.106G>T (p.Gly36Cys) | |
| MT | m.3413G>A | CA414772730 | MT-ND1 | c.107G>A (p.Gly36Asp) | dbSNP |
| MT | m.3413G>C | CA414772732 | MT-ND1 | c.107G>C (p.Gly36Ala) | |
| MT | m.3413G= | CA2499563421 | MT-ND1 | c.107G= (p.Gly36=) | |
| MT | m.3413G>T | CA414772731 | MT-ND1 | c.107G>T (p.Gly36Val) | |
| MT | m.3414C>A | CA913169323 | MT-ND1 | c.108C>A (p.Gly36=) | |
| MT | m.3414C= | CA2499563422 | MT-ND1 | c.108C= (p.Gly36=) | |
| MT | m.3414C>G | CA913169321 | MT-ND1 | c.108C>G (p.Gly36=) | |
| MT | m.3414C>T | CA913169322 | MT-ND1 | c.108C>T (p.Gly36=) | dbSNP |
| MT | m.3415C>A | CA414772733 | MT-ND1 | c.109C>A (p.Pro37Thr) | |
| MT | m.3415C= | CA2573327470 | MT-ND1 | c.109C= (p.Pro37=) | |
| MT | m.3415C>G | CA414772734 | MT-ND1 | c.109C>G (p.Pro37Ala) | |
| MT | m.3415C>T | CA414772735 | MT-ND1 | c.109C>T (p.Pro37Ser) | |
| MT | m.3416C>A | CA414772736 | MT-ND1 | c.110C>A (p.Pro37His) | |
| MT | m.3416C= | CA2573327474 | MT-ND1 | c.110C= (p.Pro37=) | |
| MT | m.3416C>G | CA414772737 | MT-ND1 | c.110C>G (p.Pro37Arg) | |
| MT | m.3416C>T | CA414772738 | MT-ND1 | c.110C>T (p.Pro37Leu) | |
| MT | m.3417C>A | CA913169329 | MT-ND1 | c.111C>A (p.Pro37=) | |
| MT | m.3417C= | CA2499563423 | MT-ND1 | c.111C= (p.Pro37=) | |
| MT | m.3417C>G | CA913169328 | MT-ND1 | c.111C>G (p.Pro37=) | |
| MT | m.3417C>T | CA913169327 | MT-ND1 | c.111C>T (p.Pro37=) | dbSNP |
| MT | m.3418A= | CA2499563424 | MT-ND1 | c.112A= (p.Asn38=) | |
| MT | m.3418A>C | CA414772739 | MT-ND1 | c.112A>C (p.Asn38His) | |
| MT | m.3418A>G | CA414772740 | MT-ND1 | c.112A>G (p.Asn38Asp) | dbSNP |
| MT | m.3418A>T | CA414772741 | MT-ND1 | c.112A>T (p.Asn38Tyr) | |
| MT | m.3419A= | CA2499563425 | MT-ND1 | c.113A= (p.Asn38=) | |
| MT | m.3419A>C | CA414772743 | MT-ND1 | c.113A>C (p.Asn38Thr) | |
| MT | m.3419A>G | CA414772744 | MT-ND1 | c.113A>G (p.Asn38Ser) | ClinVar dbSNP |
| MT | m.3419A>T | CA414772742 | MT-ND1 | c.113A>T (p.Asn38Ile) | |
| MT | m.3420C>A | CA414772745 | MT-ND1 | c.114C>A (p.Asn38Lys) | |
| MT | m.3420C= | CA2499563426 | MT-ND1 | c.114C= (p.Asn38=) | |
| MT | m.3420C>G | CA414772746 | MT-ND1 | c.114C>G (p.Asn38Lys) | |
| MT | m.3420C>T | CA913169331 | MT-ND1 | c.114C>T (p.Asn38=) | dbSNP |
| MT | m.3421G>A | CA414772747 | MT-ND1 | c.115G>A (p.Val39Ile) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.3421G>C | CA414772748 | MT-ND1 | c.115G>C (p.Val39Leu) | |
| MT | m.3421G= | CA2499563427 | MT-ND1 | c.115G= (p.Val39=) | |
| MT | m.3421G>T | CA414772749 | MT-ND1 | c.115G>T (p.Val39Phe) | |
| MT | m.3422T>A | CA414772750 | MT-ND1 | c.116T>A (p.Val39Asp) | |
| MT | m.3422T>C | CA414772751 | MT-ND1 | c.116T>C (p.Val39Ala) | |
| MT | m.3422T>G | CA414772752 | MT-ND1 | c.116T>G (p.Val39Gly) | |
| MT | m.3422T= | CA2573327492 | MT-ND1 | c.116T= (p.Val39=) | |
| MT | m.3423T>A | CA913169334 | MT-ND1 | c.117T>A (p.Val39=) | |
| MT | m.3423T>C | CA913169333 | MT-ND1 | c.117T>C (p.Val39=) | dbSNP |
| MT | m.3423T>G | CA913169332 | MT-ND1 | c.117T>G (p.Val39=) | dbSNP |
| MT | m.3423T= | CA2499563428 | MT-ND1 | c.117T= (p.Val39=) | |
| MT | m.3424G>A | CA414772753 | MT-ND1 | c.118G>A (p.Val40Ile) | dbSNP |
| MT | m.3424G>C | CA414772754 | MT-ND1 | c.118G>C (p.Val40Leu) | |
| MT | m.3424G= | CA2499563429 | MT-ND1 | c.118G= (p.Val40=) | |
| MT | m.3424G>T | CA414772755 | MT-ND1 | c.118G>T (p.Val40Leu) | |
| MT | m.3425del | CA2573104438 | MT-ND1 | c.119del (p.Val40GlufsTer14) | |
| MT | m.3425T>A | CA414772758 | MT-ND1 | c.119T>A (p.Val40Glu) | |
| MT | m.3425T>C | CA414772756 | MT-ND1 | c.119T>C (p.Val40Ala) | |
| MT | m.3425T>G | CA414772757 | MT-ND1 | c.119T>G (p.Val40Gly) | |
| MT | m.3425T= | CA2573327498 | MT-ND1 | c.119T= (p.Val40=) | |
| MT | m.3426A= | CA2499563430 | MT-ND1 | c.120A= (p.Val40=) | |
| MT | m.3426A>C | CA913169338 | MT-ND1 | c.120A>C (p.Val40=) | dbSNP |
| MT | m.3426A>G | CA913169339 | MT-ND1 | c.120A>G (p.Val40=) | dbSNP |
| MT | m.3426A>T | CA913169340 | MT-ND1 | c.120A>T (p.Val40=) | |
| MT | m.3427G>A | CA414772759 | MT-ND1 | c.121G>A (p.Gly41Ser) | ClinVar dbSNP |
| MT | m.3427G>C | CA414772760 | MT-ND1 | c.121G>C (p.Gly41Arg) | |
| MT | m.3427G= | CA2499563431 | MT-ND1 | c.121G= (p.Gly41=) | |
| MT | m.3427G>T | CA414772761 | MT-ND1 | c.121G>T (p.Gly41Cys) | |
| MT | m.3428G>A | CA414772762 | MT-ND1 | c.122G>A (p.Gly41Asp) | |
| MT | m.3428G>C | CA414772763 | MT-ND1 | c.122G>C (p.Gly41Ala) | |
| MT | m.3428G= | CA2573327507 | MT-ND1 | c.122G= (p.Gly41=) | |
| MT | m.3428G>T | CA414772764 | MT-ND1 | c.122G>T (p.Gly41Val) | |
| MT | m.3429C>A | CA913169344 | MT-ND1 | c.123C>A (p.Gly41=) | |
| MT | m.3429C= | CA2499563432 | MT-ND1 | c.123C= (p.Gly41=) | |
| MT | m.3429C>G | CA913169345 | MT-ND1 | c.123C>G (p.Gly41=) | |
| MT | m.3429C>T | CA913169346 | MT-ND1 | c.123C>T (p.Gly41=) | dbSNP |
| MT | m.3432dup | CA2573104439 | MT-ND1 | c.126dup (p.Tyr43LeufsTer9) | |
| MT | m.3430C>A | CA414772765 | MT-ND1 | c.124C>A (p.Pro42Thr) | |
| MT | m.3430C= | CA2573327514 | MT-ND1 | c.124C= (p.Pro42=) | |
| MT | m.3430C>G | CA414772766 | MT-ND1 | c.124C>G (p.Pro42Ala) | |
| MT | m.3430C>T | CA414772767 | MT-ND1 | c.124C>T (p.Pro42Ser) | |
| MT | m.3431C>A | CA414772768 | MT-ND1 | c.125C>A (p.Pro42His) | |
| MT | m.3431C= | CA2573327517 | MT-ND1 | c.125C= (p.Pro42=) | |
| MT | m.3431C>G | CA414772769 | MT-ND1 | c.125C>G (p.Pro42Arg) | |
| MT | m.3431C>T | CA414772770 | MT-ND1 | c.125C>T (p.Pro42Leu) | |
| MT | m.3432C>A | CA913169352 | MT-ND1 | c.126C>A (p.Pro42=) | |
| MT | m.3432C= | CA2573327521 | MT-ND1 | c.126C= (p.Pro42=) | |
| MT | m.3432C>G | CA913169354 | MT-ND1 | c.126C>G (p.Pro42=) | |
| MT | m.3432C>T | CA913169348 | MT-ND1 | c.126C>T (p.Pro42=) | |
| MT | m.3433T>A | CA414772772 | MT-ND1 | c.127T>A (p.Tyr43Asn) | |
| MT | m.3433T>C | CA414772773 | MT-ND1 | c.127T>C (p.Tyr43His) | |
| MT | m.3433T>G | CA414772771 | MT-ND1 | c.127T>G (p.Tyr43Asp) | |
| MT | m.3433T= | CA2573327523 | MT-ND1 | c.127T= (p.Tyr43=) | |
| MT | m.3434A= | CA2499563433 | MT-ND1 | c.128A= (p.Tyr43=) | |
| MT | m.3434A>C | CA414772774 | MT-ND1 | c.128A>C (p.Tyr43Ser) | |
| MT | m.3434A>G | CA337096530 | MT-ND1 | c.128A>G (p.Tyr43Cys) | ClinVar dbSNP |
| MT | m.3434A>T | CA414772775 | MT-ND1 | c.128A>T (p.Tyr43Phe) | |
| MT | m.3435C>A | CA414772776 | MT-ND1 | c.129C>A (p.Tyr43Ter) | |
| MT | m.3435C= | CA2499563434 | MT-ND1 | c.129C= (p.Tyr43=) | |
| MT | m.3435C>G | CA414772777 | MT-ND1 | c.129C>G (p.Tyr43Ter) | |
| MT | m.3435C>T | CA913169358 | MT-ND1 | c.129C>T (p.Tyr43=) | dbSNP |
| MT | m.3436G>A | CA337096533 | MT-ND1 | c.130G>A (p.Gly44Arg) | dbSNP |
| MT | m.3436G>C | CA414772779 | MT-ND1 | c.130G>C (p.Gly44Arg) | |
| MT | m.3436G= | CA2499563435 | MT-ND1 | c.130G= (p.Gly44=) | |
| MT | m.3436G>T | CA414772778 | MT-ND1 | c.130G>T (p.Gly44Trp) | |
| MT | m.3437G>A | CA414772780 | MT-ND1 | c.131G>A (p.Gly44Glu) | |
| MT | m.3437G>C | CA414772781 | MT-ND1 | c.131G>C (p.Gly44Ala) | |
| MT | m.3437G= | CA2573327531 | MT-ND1 | c.131G= (p.Gly44=) | |
| MT | m.3437G>T | CA414772782 | MT-ND1 | c.131G>T (p.Gly44Val) | |
| MT | m.3438G>A | CA337096535 | MT-ND1 | c.132G>A (p.Gly44=) | dbSNP |
| MT | m.3438G>C | CA913169360 | MT-ND1 | c.132G>C (p.Gly44=) | |
| MT | m.3438G= | CA2499563436 | MT-ND1 | c.132G= (p.Gly44=) | |
| MT | m.3438G>T | CA913169361 | MT-ND1 | c.132G>T (p.Gly44=) | |
| MT | m.3439C>A | CA414772783 | MT-ND1 | c.133C>A (p.Leu45Ile) | |
| MT | m.3439C= | CA2573327540 | MT-ND1 | c.133C= (p.Leu45=) | |
| MT | m.3439C>G | CA414772784 | MT-ND1 | c.133C>G (p.Leu45Val) | |
| MT | m.3439C>T | CA913169362 | MT-ND1 | c.133C>T (p.Leu45=) | |
| MT | m.3440T>A | CA414772785 | MT-ND1 | c.134T>A (p.Leu45Gln) | |
| MT | m.3440T>C | CA414772787 | MT-ND1 | c.134T>C (p.Leu45Pro) | |
| MT | m.3440T>G | CA414772786 | MT-ND1 | c.134T>G (p.Leu45Arg) | |
| MT | m.3440T= | CA2573327545 | MT-ND1 | c.134T= (p.Leu45=) | |
| MT | m.3441A= | CA2499563437 | MT-ND1 | c.135A= (p.Leu45=) | |
| MT | m.3441A>C | CA913169366 | MT-ND1 | c.135A>C (p.Leu45=) | |
| MT | m.3441A>G | CA913169365 | MT-ND1 | c.135A>G (p.Leu45=) | dbSNP |
| MT | m.3441A>T | CA913169364 | MT-ND1 | c.135A>T (p.Leu45=) | |
| MT | m.3442C>A | CA414772788 | MT-ND1 | c.136C>A (p.Leu46Ile) | |
| MT | m.3442C= | CA2573327550 | MT-ND1 | c.136C= (p.Leu46=) | |
| MT | m.3442C>G | CA414772789 | MT-ND1 | c.136C>G (p.Leu46Val) | |
| MT | m.3442C>T | CA913169367 | MT-ND1 | c.136C>T (p.Leu46=) | dbSNP |
| MT | m.3443T>A | CA414772790 | MT-ND1 | c.137T>A (p.Leu46Gln) | |
| MT | m.3443T>C | CA414772791 | MT-ND1 | c.137T>C (p.Leu46Pro) | |
| MT | m.3443T>G | CA414772792 | MT-ND1 | c.137T>G (p.Leu46Arg) | |
| MT | m.3443T= | CA2573327554 | MT-ND1 | c.137T= (p.Leu46=) | |
| MT | m.3444A= | CA2499563438 | MT-ND1 | c.138A= (p.Leu46=) | |
| MT | m.3444A>C | CA913169370 | MT-ND1 | c.138A>C (p.Leu46=) | |
| MT | m.3444A>G | CA913169371 | MT-ND1 | c.138A>G (p.Leu46=) | dbSNP |
| MT | m.3444A>T | CA913169372 | MT-ND1 | c.138A>T (p.Leu46=) | |
| MT | m.3445C>A | CA414772793 | MT-ND1 | c.139C>A (p.Gln47Lys) | |
| MT | m.3445C= | CA2573327560 | MT-ND1 | c.139C= (p.Gln47=) | |
| MT | m.3445C>G | CA414772794 | MT-ND1 | c.139C>G (p.Gln47Glu) | |
| MT | m.3445C>T | CA414772795 | MT-ND1 | c.139C>T (p.Gln47Ter) | |
| MT | m.3446A= | CA2573327564 | MT-ND1 | c.140A= (p.Gln47=) | |
| MT | m.3446A>C | CA414772796 | MT-ND1 | c.140A>C (p.Gln47Pro) | |
| MT | m.3446A>G | CA414772797 | MT-ND1 | c.140A>G (p.Gln47Arg) | |
| MT | m.3446A>T | CA414772798 | MT-ND1 | c.140A>T (p.Gln47Leu) | |
| MT | m.3447A= | CA2499563439 | MT-ND1 | c.141A= (p.Gln47=) | |
| MT | m.3447A>C | CA414772799 | MT-ND1 | c.141A>C (p.Gln47His) | |
| MT | m.3447A>G | CA10581369 | MT-ND1 | c.141A>G (p.Gln47=) | ClinVar dbSNP |
| MT | m.3447A>T | CA414772800 | MT-ND1 | c.141A>T (p.Gln47His) | |
| MT | m.3448C>A | CA414772801 | MT-ND1 | c.142C>A (p.Pro48Thr) | |
| MT | m.3448C= | CA2573327575 | MT-ND1 | c.142C= (p.Pro48=) | |
| MT | m.3448C>G | CA414772802 | MT-ND1 | c.142C>G (p.Pro48Ala) | |
| MT | m.3448C>T | CA414772803 | MT-ND1 | c.142C>T (p.Pro48Ser) | |
| MT | m.3449C>A | CA414772804 | MT-ND1 | c.143C>A (p.Pro48His) | |
| MT | m.3449C= | CA2573327580 | MT-ND1 | c.143C= (p.Pro48=) | |
| MT | m.3449C>G | CA414772805 | MT-ND1 | c.143C>G (p.Pro48Arg) | |
| MT | m.3449C>T | CA414772806 | MT-ND1 | c.143C>T (p.Pro48Leu) | |
| MT | m.3450C>A | CA913169377 | MT-ND1 | c.144C>A (p.Pro48=) | |
| MT | m.3450C= | CA2499563440 | MT-ND1 | c.144C= (p.Pro48=) | |
| MT | m.3450C>G | CA913169378 | MT-ND1 | c.144C>G (p.Pro48=) | |
| MT | m.3450C>T | CA337096537 | MT-ND1 | c.144C>T (p.Pro48=) | dbSNP |
| MT | m.3451T>A | CA414772807 | MT-ND1 | c.145T>A (p.Phe49Ile) | |
| MT | m.3451T>C | CA414772808 | MT-ND1 | c.145T>C (p.Phe49Leu) | |
| MT | m.3451T>G | CA414772809 | MT-ND1 | c.145T>G (p.Phe49Val) | |
| MT | m.3451T= | CA2573327585 | MT-ND1 | c.145T= (p.Phe49=) | |
| MT | m.3452T>A | CA414772810 | MT-ND1 | c.146T>A (p.Phe49Tyr) | |
| MT | m.3452T>C | CA414772811 | MT-ND1 | c.146T>C (p.Phe49Ser) | |
| MT | m.3452T>G | CA414772812 | MT-ND1 | c.146T>G (p.Phe49Cys) | |
| MT | m.3452T= | CA2573327591 | MT-ND1 | c.146T= (p.Phe49=) | |
| MT | m.3453C>A | CA337096542 | MT-ND1 | c.147C>A (p.Phe49Leu) | |
| MT | m.3453C= | CA2499563441 | MT-ND1 | c.147C= (p.Phe49=) | |
| MT | m.3453C>G | CA337096540 | MT-ND1 | c.147C>G (p.Phe49Leu) | |
| MT | m.3453C>T | CA913169379 | MT-ND1 | c.147C>T (p.Phe49=) | dbSNP |
| MT | m.3454G>A | CA414772813 | MT-ND1 | c.148G>A (p.Ala50Thr) | COSMIC COSMIC |
| MT | m.3454G>C | CA414772814 | MT-ND1 | c.148G>C (p.Ala50Pro) | |
| MT | m.3454G= | CA2573327600 | MT-ND1 | c.148G= (p.Ala50=) | |
| MT | m.3454G>T | CA414772815 | MT-ND1 | c.148G>T (p.Ala50Ser) | |
| MT | m.3455C>A | CA414772816 | MT-ND1 | c.149C>A (p.Ala50Asp) | |
| MT | m.3455C= | CA2573327602 | MT-ND1 | c.149C= (p.Ala50=) | |
| MT | m.3455C>G | CA414772817 | MT-ND1 | c.149C>G (p.Ala50Gly) | |
| MT | m.3455C>T | CA414772818 | MT-ND1 | c.149C>T (p.Ala50Val) | |
| MT | m.3456T>A | CA913169381 | MT-ND1 | c.150T>A (p.Ala50=) | |
| MT | m.3456T>C | CA337096544 | MT-ND1 | c.150T>C (p.Ala50=) | dbSNP |
| MT | m.3456T>G | CA913169382 | MT-ND1 | c.150T>G (p.Ala50=) | |
| MT | m.3456T= | CA2499563442 | MT-ND1 | c.150T= (p.Ala50=) | |
| MT | m.3457G>A | CA414772819 | MT-ND1 | c.151G>A (p.Asp51Asn) | |
| MT | m.3457G>C | CA414772820 | MT-ND1 | c.151G>C (p.Asp51His) | |
| MT | m.3457G= | CA2573327608 | MT-ND1 | c.151G= (p.Asp51=) | |
| MT | m.3457G>T | CA414772821 | MT-ND1 | c.151G>T (p.Asp51Tyr) | |
| MT | m.3458A= | CA2573327611 | MT-ND1 | c.152A= (p.Asp51=) | |
| MT | m.3458A>C | CA414772824 | MT-ND1 | c.152A>C (p.Asp51Ala) | |
| MT | m.3458A>G | CA414772823 | MT-ND1 | c.152A>G (p.Asp51Gly) | |
| MT | m.3458A>T | CA414772822 | MT-ND1 | c.152A>T (p.Asp51Val) | |
| MT | m.3459C>A | CA414772825 | MT-ND1 | c.153C>A (p.Asp51Glu) | |
| MT | m.3459C= | CA2499563443 | MT-ND1 | c.153C= (p.Asp51=) | |
| MT | m.3459C>G | CA414772826 | MT-ND1 | c.153C>G (p.Asp51Glu) | |
| MT | m.3459C>T | CA337096546 | MT-ND1 | c.153C>T (p.Asp51=) | dbSNP |
| MT | m.3460G>A | CA120646 | MT-ND1 | c.154G>A (p.Ala52Thr) | ClinVar dbSNP |
| MT | m.3460G>C | CA414772827 | MT-ND1 | c.154G>C (p.Ala52Pro) | |
| MT | m.3460G= | CA2499563444 | MT-ND1 | c.154G= (p.Ala52=) | |
| MT | m.3460G>T | CA414772828 | MT-ND1 | c.154G>T (p.Ala52Ser) | |
| MT | m.3461C>A | CA414772829 | MT-ND1 | c.155C>A (p.Ala52Asp) | |
| MT | m.3461C= | CA2573327618 | MT-ND1 | c.155C= (p.Ala52=) | |
| MT | m.3461C>G | CA414772830 | MT-ND1 | c.155C>G (p.Ala52Gly) | |
| MT | m.3461C>T | CA414772831 | MT-ND1 | c.155C>T (p.Ala52Val) | |
| MT | m.3462C>A | CA913169388 | MT-ND1 | c.156C>A (p.Ala52=) | |
| MT | m.3462C= | CA2499563445 | MT-ND1 | c.156C= (p.Ala52=) | |
| MT | m.3462C>G | CA913169389 | MT-ND1 | c.156C>G (p.Ala52=) | |
| MT | m.3462C>T | CA913169387 | MT-ND1 | c.156C>T (p.Ala52=) | dbSNP |
| MT | m.3463A= | CA2573327623 | MT-ND1 | c.157A= (p.Ile53=) | |
| MT | m.3463A>C | CA414772832 | MT-ND1 | c.157A>C (p.Ile53Leu) | |
| MT | m.3463A>G | CA414772833 | MT-ND1 | c.157A>G (p.Ile53Val) | |
| MT | m.3463A>T | CA414772834 | MT-ND1 | c.157A>T (p.Ile53Leu) | |
| MT | m.3464T>A | CA414772835 | MT-ND1 | c.158T>A (p.Ile53Lys) | |
| MT | m.3464T>C | CA414772836 | MT-ND1 | c.158T>C (p.Ile53Thr) | |
| MT | m.3464T>G | CA414772837 | MT-ND1 | c.158T>G (p.Ile53Arg) | |
| MT | m.3464T= | CA2573327628 | MT-ND1 | c.158T= (p.Ile53=) | |
| MT | m.3465A= | CA2573327631 | MT-ND1 | c.159A= (p.Ile53=) | |
| MT | m.3465A>C | CA913169392 | MT-ND1 | c.159A>C (p.Ile53=) | |
| MT | m.3465A>G | CA414772838 | MT-ND1 | c.159A>G (p.Ile53Met) | dbSNP |
| MT | m.3465A>T | CA913169396 | MT-ND1 | c.159A>T (p.Ile53=) | |
| MT | m.3466A= | CA2573327635 | MT-ND1 | c.160A= (p.Lys54=) | |
| MT | m.3466A>C | CA414772839 | MT-ND1 | c.160A>C (p.Lys54Gln) | |
| MT | m.3466A>G | CA414772840 | MT-ND1 | c.160A>G (p.Lys54Glu) | |
| MT | m.3466A>T | CA414772841 | MT-ND1 | c.160A>T (p.Lys54Ter) | |
| MT | m.3467A= | CA2573327636 | MT-ND1 | c.161A= (p.Lys54=) | |
| MT | m.3467A>C | CA414772842 | MT-ND1 | c.161A>C (p.Lys54Thr) | |
| MT | m.3467A>G | CA414772843 | MT-ND1 | c.161A>G (p.Lys54Arg) | |
| MT | m.3467A>T | CA414772844 | MT-ND1 | c.161A>T (p.Lys54Ile) | |
| MT | m.3468A= | CA2499563446 | MT-ND1 | c.162A= (p.Lys54=) | |
| MT | m.3468A>C | CA414772845 | MT-ND1 | c.162A>C (p.Lys54Asn) | |
| MT | m.3468A>G | CA913169399 | MT-ND1 | c.162A>G (p.Lys54=) | dbSNP |
| MT | m.3468A>T | CA414772846 | MT-ND1 | c.162A>T (p.Lys54Asn) | |
| MT | m.3469C>A | CA414772847 | MT-ND1 | c.163C>A (p.Leu55Ile) | |
| MT | m.3469C= | CA2573327642 | MT-ND1 | c.163C= (p.Leu55=) | |
| MT | m.3469C>G | CA414772848 | MT-ND1 | c.163C>G (p.Leu55Val) | |
| MT | m.3469C>T | CA414772849 | MT-ND1 | c.163C>T (p.Leu55Phe) | |
| MT | m.3469_3488del | CA2573104440 | MT-ND1 | c.163_182del (p.Leu55LysfsTer?) | |
| MT | m.3470T>A | CA414772850 | MT-ND1 | c.164T>A (p.Leu55His) | |
| MT | m.3470T>C | CA414772851 | MT-ND1 | c.164T>C (p.Leu55Pro) | dbSNP |
| MT | m.3470T>G | CA414772852 | MT-ND1 | c.164T>G (p.Leu55Arg) | |
| MT | m.3470T= | CA2573327647 | MT-ND1 | c.164T= (p.Leu55=) | |
| MT | m.3471C>A | CA913169401 | MT-ND1 | c.165C>A (p.Leu55=) | dbSNP |
| MT | m.3471C= | CA2499563447 | MT-ND1 | c.165C= (p.Leu55=) | |
| MT | m.3471C>G | CA913169402 | MT-ND1 | c.165C>G (p.Leu55=) | |
| MT | m.3471C>T | CA913169400 | MT-ND1 | c.165C>T (p.Leu55=) | dbSNP |
| MT | m.3472T>A | CA414772853 | MT-ND1 | c.166T>A (p.Phe56Ile) | |
| MT | m.3472T>C | CA414772855 | MT-ND1 | c.166T>C (p.Phe56Leu) | ClinVar dbSNP |
| MT | m.3472T>G | CA414772854 | MT-ND1 | c.166T>G (p.Phe56Val) | |
| MT | m.3472T= | CA2499563448 | MT-ND1 | c.166T= (p.Phe56=) | |
| MT | m.3473T>A | CA414772856 | MT-ND1 | c.167T>A (p.Phe56Tyr) | |
| MT | m.3473T>C | CA414772857 | MT-ND1 | c.167T>C (p.Phe56Ser) | dbSNP |
| MT | m.3473T>G | CA414772858 | MT-ND1 | c.167T>G (p.Phe56Cys) | |
| MT | m.3473T= | CA2499563449 | MT-ND1 | c.167T= (p.Phe56=) | |
| MT | m.3474C>A | CA414772859 | MT-ND1 | c.168C>A (p.Phe56Leu) | |
| MT | m.3474C= | CA2573327658 | MT-ND1 | c.168C= (p.Phe56=) | |
| MT | m.3474C>G | CA414772860 | MT-ND1 | c.168C>G (p.Phe56Leu) | |
| MT | m.3474C>T | CA913169404 | MT-ND1 | c.168C>T (p.Phe56=) | |
| MT | m.3475_3476del | CA2739234965 | MT-ND1 | c.169_170del (p.Thr57GlnfsTer?) | dbSNP |
| MT | m.3474_3475insCTG | CA2741808799 | MT-ND1 | c.168_169insCTG (p.Phe56_Thr57insLeu) | |
| MT | m.3475A= | CA2573327661 | MT-ND1 | c.169A= (p.Thr57=) | |
| MT | m.3475A>C | CA414772861 | MT-ND1 | c.169A>C (p.Thr57Pro) | |
| MT | m.3475A>G | CA414772862 | MT-ND1 | c.169A>G (p.Thr57Ala) | |
| MT | m.3475A>T | CA414772863 | MT-ND1 | c.169A>T (p.Thr57Ser) | |
| MT | m.3476C>A | CA414772864 | MT-ND1 | c.170C>A (p.Thr57Asn) | |
| MT | m.3476C= | CA2573327663 | MT-ND1 | c.170C= (p.Thr57=) | |
| MT | m.3476C>G | CA414772865 | MT-ND1 | c.170C>G (p.Thr57Ser) | |
| MT | m.3476C>T | CA414772866 | MT-ND1 | c.170C>T (p.Thr57Ile) | |
| MT | m.3476_3477insT | CA2741808800 | MT-ND1 | c.170_171insT (p.Lys58GlnfsTer?) | |
| MT | m.3477C>A | CA913169414 | MT-ND1 | c.171C>A (p.Thr57=) | |
| MT | m.3477C= | CA2499563450 | MT-ND1 | c.171C= (p.Thr57=) | |
| MT | m.3477C>G | CA913169415 | MT-ND1 | c.171C>G (p.Thr57=) | |
| MT | m.3477C>T | CA913169416 | MT-ND1 | c.171C>T (p.Thr57=) | dbSNP |
| MT | m.3478A= | CA2573327667 | MT-ND1 | c.172A= (p.Lys58=) | |
| MT | m.3478A>C | CA414772869 | MT-ND1 | c.172A>C (p.Lys58Gln) | |
| MT | m.3478A>G | CA414772868 | MT-ND1 | c.172A>G (p.Lys58Glu) | |
| MT | m.3478A>T | CA414772867 | MT-ND1 | c.172A>T (p.Lys58Ter) | |
| MT | m.3479A= | CA2573327668 | MT-ND1 | c.173A= (p.Lys58=) | |
| MT | m.3479A>C | CA414772870 | MT-ND1 | c.173A>C (p.Lys58Thr) | |
| MT | m.3479A>G | CA414772871 | MT-ND1 | c.173A>G (p.Lys58Arg) | |
| MT | m.3479A>T | CA414772872 | MT-ND1 | c.173A>T (p.Lys58Ile) | |
| MT | m.3479_3483del | CA2741808801 | MT-ND1 | c.173_177del (p.Lys58ThrfsTer?) | |
| MT | m.3480A= | CA2499563451 | MT-ND1 | c.174A= (p.Lys58=) | |
| MT | m.3480A>C | CA414772873 | MT-ND1 | c.174A>C (p.Lys58Asn) | |
| MT | m.3480A>G | CA337096549 | MT-ND1 | c.174A>G (p.Lys58=) | dbSNP |
| MT | m.3480A>T | CA414772874 | MT-ND1 | c.174A>T (p.Lys58Asn) |