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.3902_3967del | CA2740098101 | MT-ND1 | c.596_661del (p.Asp199_Phe220del) | |
| MT | m.3933A= | CA2499563655 | MT-ND1 | c.627A= (p.Ser209=) | |
| MT | m.3933A>C | CA913176247 | MT-ND1 | c.627A>C (p.Ser209=) | |
| MT | m.3933A>G | CA913176248 | MT-ND1 | c.627A>G (p.Ser209=) | dbSNP |
| MT | m.3933A>T | CA913176250 | MT-ND1 | c.627A>T (p.Ser209=) | |
| MT | m.3934G>A | CA414773830 | MT-ND1 | c.628G>A (p.Gly210Ser) | |
| MT | m.3934G>C | CA414773831 | MT-ND1 | c.628G>C (p.Gly210Arg) | |
| MT | m.3934G= | CA2573328913 | MT-ND1 | c.628G= (p.Gly210=) | |
| MT | m.3934G>T | CA414773832 | MT-ND1 | c.628G>T (p.Gly210Cys) | |
| MT | m.3935G>A | CA414773833 | MT-ND1 | c.629G>A (p.Gly210Asp) | COSMIC COSMIC |
| MT | m.3935G>C | CA414773834 | MT-ND1 | c.629G>C (p.Gly210Ala) | |
| MT | m.3935G= | CA2573328917 | MT-ND1 | c.629G= (p.Gly210=) | |
| MT | m.3935G>T | CA414773835 | MT-ND1 | c.629G>T (p.Gly210Val) | |
| MT | m.3936C>A | CA337096729 | MT-ND1 | c.630C>A (p.Gly210=) | dbSNP |
| MT | m.3936C= | CA2499563656 | MT-ND1 | c.630C= (p.Gly210=) | |
| MT | m.3936C>G | CA913176269 | MT-ND1 | c.630C>G (p.Gly210=) | |
| MT | m.3936C>T | CA913176267 | MT-ND1 | c.630C>T (p.Gly210=) | |
| MT | m.3937T>A | CA414773838 | MT-ND1 | c.631T>A (p.Phe211Ile) | |
| MT | m.3937T>C | CA414773837 | MT-ND1 | c.631T>C (p.Phe211Leu) | ClinVar dbSNP |
| MT | m.3937T>G | CA414773836 | MT-ND1 | c.631T>G (p.Phe211Val) | |
| MT | m.3937T= | CA2499563657 | MT-ND1 | c.631T= (p.Phe211=) | |
| MT | m.3938T>A | CA414773839 | MT-ND1 | c.632T>A (p.Phe211Tyr) | |
| MT | m.3938T>C | CA414773840 | MT-ND1 | c.632T>C (p.Phe211Ser) | |
| MT | m.3938T>G | CA414773841 | MT-ND1 | c.632T>G (p.Phe211Cys) | |
| MT | m.3938T= | CA2573328924 | MT-ND1 | c.632T= (p.Phe211=) | |
| MT | m.3939C>A | CA414773842 | MT-ND1 | c.633C>A (p.Phe211Leu) | |
| MT | m.3939C= | CA2499563658 | MT-ND1 | c.633C= (p.Phe211=) | |
| MT | m.3939C>G | CA414773843 | MT-ND1 | c.633C>G (p.Phe211Leu) | |
| MT | m.3939C>T | CA913176284 | MT-ND1 | c.633C>T (p.Phe211=) | dbSNP |
| MT | m.3940A= | CA2573328929 | MT-ND1 | c.634A= (p.Asn212=) | |
| MT | m.3940A>C | CA414773844 | MT-ND1 | c.634A>C (p.Asn212His) | |
| MT | m.3940A>G | CA414773845 | MT-ND1 | c.634A>G (p.Asn212Asp) | |
| MT | m.3940A>T | CA414773846 | MT-ND1 | c.634A>T (p.Asn212Tyr) | |
| MT | m.3941A= | CA2573328931 | MT-ND1 | c.635A= (p.Asn212=) | |
| MT | m.3941A>C | CA414773847 | MT-ND1 | c.635A>C (p.Asn212Thr) | |
| MT | m.3941A>G | CA414773848 | MT-ND1 | c.635A>G (p.Asn212Ser) | |
| MT | m.3941A>T | CA414773849 | MT-ND1 | c.635A>T (p.Asn212Ile) | |
| MT | m.3942C>A | CA414773851 | MT-ND1 | c.636C>A (p.Asn212Lys) | |
| MT | m.3942C= | CA2573328935 | MT-ND1 | c.636C= (p.Asn212=) | |
| MT | m.3942C>G | CA414773850 | MT-ND1 | c.636C>G (p.Asn212Lys) | |
| MT | m.3942C>T | CA913176295 | MT-ND1 | c.636C>T (p.Asn212=) | |
| MT | m.3943A= | CA2499563659 | MT-ND1 | c.637A= (p.Ile213=) | |
| MT | m.3943A>C | CA414773852 | MT-ND1 | c.637A>C (p.Ile213Leu) | |
| MT | m.3943A>G | CA337096731 | MT-ND1 | c.637A>G (p.Ile213Val) | ClinVar dbSNP |
| MT | m.3943A>T | CA414773853 | MT-ND1 | c.637A>T (p.Ile213Phe) | |
| MT | m.3944T>A | CA414773854 | MT-ND1 | c.638T>A (p.Ile213Asn) | |
| MT | m.3944T>C | CA414773855 | MT-ND1 | c.638T>C (p.Ile213Thr) | dbSNP |
| MT | m.3944T>G | CA414773856 | MT-ND1 | c.638T>G (p.Ile213Ser) | |
| MT | m.3944T= | CA2499563660 | MT-ND1 | c.638T= (p.Ile213=) | |
| MT | m.3945C>A | CA913176322 | MT-ND1 | c.639C>A (p.Ile213=) | |
| MT | m.3945C= | CA2499563661 | MT-ND1 | c.639C= (p.Ile213=) | |
| MT | m.3945C>G | CA414773857 | MT-ND1 | c.639C>G (p.Ile213Met) | |
| MT | m.3945C>T | CA913176319 | MT-ND1 | c.639C>T (p.Ile213=) | dbSNP |
| MT | m.3946G>A | CA254862 | MT-ND1 | c.640G>A (p.Glu214Lys) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.3946G>C | CA414773858 | MT-ND1 | c.640G>C (p.Glu214Gln) | |
| MT | m.3946G= | CA2499563662 | MT-ND1 | c.640G= (p.Glu214=) | |
| MT | m.3946G>T | CA414773859 | MT-ND1 | c.640G>T (p.Glu214Ter) | |
| MT | m.3947A= | CA2573328944 | MT-ND1 | c.641A= (p.Glu214=) | |
| MT | m.3947A>C | CA414773860 | MT-ND1 | c.641A>C (p.Glu214Ala) | |
| MT | m.3947A>G | CA414773861 | MT-ND1 | c.641A>G (p.Glu214Gly) | |
| MT | m.3947A>T | CA414773862 | MT-ND1 | c.641A>T (p.Glu214Val) | |
| MT | m.3948A= | CA2499563663 | MT-ND1 | c.642A= (p.Glu214=) | |
| MT | m.3948A>C | CA414773864 | MT-ND1 | c.642A>C (p.Glu214Asp) | |
| MT | m.3948A>G | CA913176336 | MT-ND1 | c.642A>G (p.Glu214=) | dbSNP |
| MT | m.3948A>T | CA414773863 | MT-ND1 | c.642A>T (p.Glu214Asp) | |
| MT | m.3949T>A | CA414773865 | MT-ND1 | c.643T>A (p.Tyr215Asn) | |
| MT | m.3949T>C | CA254863 | MT-ND1 | c.643T>C (p.Tyr215His) | ClinVar dbSNP |
| MT | m.3949T>G | CA414773866 | MT-ND1 | c.643T>G (p.Tyr215Asp) | |
| MT | m.3949T= | CA2499563664 | MT-ND1 | c.643T= (p.Tyr215=) | |
| MT | m.3950A= | CA2573328947 | MT-ND1 | c.644A= (p.Tyr215=) | |
| MT | m.3950A>C | CA414773867 | MT-ND1 | c.644A>C (p.Tyr215Ser) | |
| MT | m.3950A>G | CA414773868 | MT-ND1 | c.644A>G (p.Tyr215Cys) | |
| MT | m.3950A>T | CA414773869 | MT-ND1 | c.644A>T (p.Tyr215Phe) | |
| MT | m.3951C>A | CA337096735 | MT-ND1 | c.645C>A (p.Tyr215Ter) | |
| MT | m.3951C= | CA2499563665 | MT-ND1 | c.645C= (p.Tyr215=) | |
| MT | m.3951C>G | CA337096737 | MT-ND1 | c.645C>G (p.Tyr215Ter) | |
| MT | m.3951C>T | CA913176350 | MT-ND1 | c.645C>T (p.Tyr215=) | dbSNP |
| MT | m.3952G>A | CA414773870 | MT-ND1 | c.646G>A (p.Ala216Thr) | dbSNP |
| MT | m.3952G>C | CA414773871 | MT-ND1 | c.646G>C (p.Ala216Pro) | |
| MT | m.3952G= | CA2499563666 | MT-ND1 | c.646G= (p.Ala216=) | |
| MT | m.3952G>T | CA414773872 | MT-ND1 | c.646G>T (p.Ala216Ser) | |
| MT | m.3953C>A | CA414773874 | MT-ND1 | c.647C>A (p.Ala216Asp) | |
| MT | m.3953C= | CA2573328952 | MT-ND1 | c.647C= (p.Ala216=) | |
| MT | m.3953C>G | CA414773875 | MT-ND1 | c.647C>G (p.Ala216Gly) | |
| MT | m.3953C>T | CA414773873 | MT-ND1 | c.647C>T (p.Ala216Val) | |
| MT | m.3954C>A | CA913176364 | MT-ND1 | c.648C>A (p.Ala216=) | |
| MT | m.3954C= | CA2499563667 | MT-ND1 | c.648C= (p.Ala216=) | |
| MT | m.3954C>G | CA913176362 | MT-ND1 | c.648C>G (p.Ala216=) | |
| MT | m.3954C>T | CA337096739 | MT-ND1 | c.648C>T (p.Ala216=) | dbSNP |
| MT | m.3955G>A | CA337096741 | MT-ND1 | c.649G>A (p.Ala217Thr) | dbSNP |
| MT | m.3955G>C | CA414773876 | MT-ND1 | c.649G>C (p.Ala217Pro) | |
| MT | m.3955G= | CA2499563668 | MT-ND1 | c.649G= (p.Ala217=) | |
| MT | m.3955G>T | CA414773877 | MT-ND1 | c.649G>T (p.Ala217Ser) | |
| MT | m.3956C>A | CA414773880 | MT-ND1 | c.650C>A (p.Ala217Glu) | |
| MT | m.3956C= | CA2573328956 | MT-ND1 | c.650C= (p.Ala217=) | |
| MT | m.3956C>G | CA414773879 | MT-ND1 | c.650C>G (p.Ala217Gly) | |
| MT | m.3956C>T | CA414773878 | MT-ND1 | c.650C>T (p.Ala217Val) | |
| MT | m.3957A= | CA2499563669 | MT-ND1 | c.651A= (p.Ala217=) | |
| MT | m.3957A>C | CA913176378 | MT-ND1 | c.651A>C (p.Ala217=) | |
| MT | m.3957A>G | CA913176377 | MT-ND1 | c.651A>G (p.Ala217=) | dbSNP |
| MT | m.3957A>T | CA913176376 | MT-ND1 | c.651A>T (p.Ala217=) | |
| MT | m.3958G>A | CA414773881 | MT-ND1 | c.652G>A (p.Gly218Ser) | |
| MT | m.3958G>C | CA414773882 | MT-ND1 | c.652G>C (p.Gly218Arg) | |
| MT | m.3958G= | CA2573328962 | MT-ND1 | c.652G= (p.Gly218=) | |
| MT | m.3958G>T | CA414773883 | MT-ND1 | c.652G>T (p.Gly218Cys) | |
| MT | m.3959G>A | CA414773884 | MT-ND1 | c.653G>A (p.Gly218Asp) | dbSNP |
| MT | m.3959G>C | CA414773885 | MT-ND1 | c.653G>C (p.Gly218Ala) | |
| MT | m.3959G= | CA2499563670 | MT-ND1 | c.653G= (p.Gly218=) | |
| MT | m.3959G>T | CA414773886 | MT-ND1 | c.653G>T (p.Gly218Val) | |
| MT | m.3960C>A | CA913176388 | MT-ND1 | c.654C>A (p.Gly218=) | |
| MT | m.3960C= | CA2499563671 | MT-ND1 | c.654C= (p.Gly218=) | |
| MT | m.3960C>G | CA913176390 | MT-ND1 | c.654C>G (p.Gly218=) | |
| MT | m.3960C>T | CA913176396 | MT-ND1 | c.654C>T (p.Gly218=) | dbSNP |
| MT | m.3961C>A | CA414773887 | MT-ND1 | c.655C>A (p.Pro219Thr) | |
| MT | m.3961C= | CA2499563672 | MT-ND1 | c.655C= (p.Pro219=) | |
| MT | m.3961C>G | CA414773889 | MT-ND1 | c.655C>G (p.Pro219Ala) | |
| MT | m.3961C>T | CA414773888 | MT-ND1 | c.655C>T (p.Pro219Ser) | dbSNP |
| MT | m.3962C>A | CA414773890 | MT-ND1 | c.656C>A (p.Pro219His) | |
| MT | m.3962C= | CA2573328969 | MT-ND1 | c.656C= (p.Pro219=) | |
| MT | m.3962C>G | CA414773891 | MT-ND1 | c.656C>G (p.Pro219Arg) | |
| MT | m.3962C>T | CA414773892 | MT-ND1 | c.656C>T (p.Pro219Leu) | |
| MT | m.3963C>A | CA913176405 | MT-ND1 | c.657C>A (p.Pro219=) | dbSNP |
| MT | m.3963C= | CA2499563673 | MT-ND1 | c.657C= (p.Pro219=) | |
| MT | m.3963C>G | CA913176403 | MT-ND1 | c.657C>G (p.Pro219=) | |
| MT | m.3963C>T | CA913176401 | MT-ND1 | c.657C>T (p.Pro219=) | dbSNP |
| MT | m.3964T>A | CA414773893 | MT-ND1 | c.658T>A (p.Phe220Ile) | |
| MT | m.3964T>C | CA414773894 | MT-ND1 | c.658T>C (p.Phe220Leu) | |
| MT | m.3964T>G | CA414773895 | MT-ND1 | c.658T>G (p.Phe220Val) | |
| MT | m.3964T= | CA2573328970 | MT-ND1 | c.658T= (p.Phe220=) | |
| MT | m.3965T>A | CA414773896 | MT-ND1 | c.659T>A (p.Phe220Tyr) | |
| MT | m.3965T>C | CA414773897 | MT-ND1 | c.659T>C (p.Phe220Ser) | |
| MT | m.3965T>G | CA414773898 | MT-ND1 | c.659T>G (p.Phe220Cys) | |
| MT | m.3965T= | CA2573328971 | MT-ND1 | c.659T= (p.Phe220=) | |
| MT | m.3966C>A | CA414773899 | MT-ND1 | c.660C>A (p.Phe220Leu) | |
| MT | m.3966C= | CA2573328973 | MT-ND1 | c.660C= (p.Phe220=) | |
| MT | m.3966C>G | CA414773900 | MT-ND1 | c.660C>G (p.Phe220Leu) | |
| MT | m.3966C>T | CA913176418 | MT-ND1 | c.660C>T (p.Phe220=) | |
| MT | m.3967G>A | CA414773901 | MT-ND1 | c.661G>A (p.Ala221Thr) | |
| MT | m.3967G>C | CA414773903 | MT-ND1 | c.661G>C (p.Ala221Pro) | |
| MT | m.3967G= | CA2573328976 | MT-ND1 | c.661G= (p.Ala221=) | |
| MT | m.3967G>T | CA414773902 | MT-ND1 | c.661G>T (p.Ala221Ser) | |
| MT | m.3968C>A | CA414773904 | MT-ND1 | c.662C>A (p.Ala221Asp) | |
| MT | m.3968C= | CA2573328978 | MT-ND1 | c.662C= (p.Ala221=) | |
| MT | m.3968C>G | CA414773906 | MT-ND1 | c.662C>G (p.Ala221Gly) | |
| MT | m.3968C>T | CA414773905 | MT-ND1 | c.662C>T (p.Ala221Val) | |
| MT | m.3969C>A | CA913176428 | MT-ND1 | c.663C>A (p.Ala221=) | |
| MT | m.3969C= | CA2499563674 | MT-ND1 | c.663C= (p.Ala221=) | |
| MT | m.3969C>G | CA913176430 | MT-ND1 | c.663C>G (p.Ala221=) | |
| MT | m.3969C>T | CA913176432 | MT-ND1 | c.663C>T (p.Ala221=) | dbSNP |
| MT | m.3970C>A | CA414773907 | MT-ND1 | c.664C>A (p.Leu222Ile) | dbSNP |
| MT | m.3970C= | CA2499563675 | MT-ND1 | c.664C= (p.Leu222=) | |
| MT | m.3970C>G | CA337096743 | MT-ND1 | c.664C>G (p.Leu222Val) | dbSNP |
| MT | m.3970C>T | CA337096745 | MT-ND1 | c.664C>T (p.Leu222=) | dbSNP |
| MT | m.3971T>A | CA414773908 | MT-ND1 | c.665T>A (p.Leu222Gln) | |
| MT | m.3971T>C | CA414773909 | MT-ND1 | c.665T>C (p.Leu222Pro) | |
| MT | m.3971T>G | CA414773910 | MT-ND1 | c.665T>G (p.Leu222Arg) | |
| MT | m.3971T= | CA2573328981 | MT-ND1 | c.665T= (p.Leu222=) | |
| MT | m.3972A= | CA2499563676 | MT-ND1 | c.666A= (p.Leu222=) | |
| MT | m.3972A>C | CA913176455 | MT-ND1 | c.666A>C (p.Leu222=) | |
| MT | m.3972A>G | CA337096747 | MT-ND1 | c.666A>G (p.Leu222=) | dbSNP |
| MT | m.3972A>T | CA913176459 | MT-ND1 | c.666A>T (p.Leu222=) | |
| MT | m.3973T>A | CA414773911 | MT-ND1 | c.667T>A (p.Phe223Ile) | |
| MT | m.3973T>C | CA414773912 | MT-ND1 | c.667T>C (p.Phe223Leu) | |
| MT | m.3973T>G | CA414773913 | MT-ND1 | c.667T>G (p.Phe223Val) | |
| MT | m.3973T= | CA2573328984 | MT-ND1 | c.667T= (p.Phe223=) | |
| MT | m.3974T>A | CA414773914 | MT-ND1 | c.668T>A (p.Phe223Tyr) | |
| MT | m.3974T>C | CA414773915 | MT-ND1 | c.668T>C (p.Phe223Ser) | |
| MT | m.3974T>G | CA414773916 | MT-ND1 | c.668T>G (p.Phe223Cys) | |
| MT | m.3974T= | CA2513152090 | MT-ND1 | c.668T= (p.Phe223=) | |
| MT | m.3975C>A | CA414773918 | MT-ND1 | c.669C>A (p.Phe223Leu) | |
| MT | m.3975C= | CA2499563677 | MT-ND1 | c.669C= (p.Phe223=) | |
| MT | m.3975C>G | CA414773917 | MT-ND1 | c.669C>G (p.Phe223Leu) | |
| MT | m.3975C>T | CA913176471 | MT-ND1 | c.669C>T (p.Phe223=) | dbSNP |
| MT | m.3976T>A | CA414773919 | MT-ND1 | c.670T>A (p.Phe224Ile) | |
| MT | m.3976T>C | CA414773920 | MT-ND1 | c.670T>C (p.Phe224Leu) | |
| MT | m.3976T>G | CA414773921 | MT-ND1 | c.670T>G (p.Phe224Val) | |
| MT | m.3976T= | CA2573328987 | MT-ND1 | c.670T= (p.Phe224=) | |
| MT | m.3977T>A | CA414773922 | MT-ND1 | c.671T>A (p.Phe224Tyr) | |
| MT | m.3977T>C | CA414773923 | MT-ND1 | c.671T>C (p.Phe224Ser) | |
| MT | m.3977T>G | CA414773924 | MT-ND1 | c.671T>G (p.Phe224Cys) | |
| MT | m.3977T= | CA2573328989 | MT-ND1 | c.671T= (p.Phe224=) | |
| MT | m.3978C>A | CA414773925 | MT-ND1 | c.672C>A (p.Phe224Leu) | |
| MT | m.3978C= | CA2573328992 | MT-ND1 | c.672C= (p.Phe224=) | |
| MT | m.3978C>G | CA414773926 | MT-ND1 | c.672C>G (p.Phe224Leu) | |
| MT | m.3978C>T | CA913176495 | MT-ND1 | c.672C>T (p.Phe224=) | |
| MT | m.3979A= | CA2499563678 | MT-ND1 | c.673A= (p.Ile225=) | |
| MT | m.3979A>C | CA414773927 | MT-ND1 | c.673A>C (p.Ile225Leu) | |
| MT | m.3979A>G | CA414773928 | MT-ND1 | c.673A>G (p.Ile225Val) | dbSNP |
| MT | m.3979A>T | CA414773929 | MT-ND1 | c.673A>T (p.Ile225Leu) | |
| MT | m.3980T>A | CA414773932 | MT-ND1 | c.674T>A (p.Ile225Lys) | |
| MT | m.3980T>C | CA414773931 | MT-ND1 | c.674T>C (p.Ile225Thr) | dbSNP |
| MT | m.3980T>G | CA414773930 | MT-ND1 | c.674T>G (p.Ile225Arg) | |
| MT | m.3980T= | CA2499563679 | MT-ND1 | c.674T= (p.Ile225=) | |
| MT | m.3981A= | CA2499563680 | MT-ND1 | c.675A= (p.Ile225=) | |
| MT | m.3981A>C | CA913176602 | MT-ND1 | c.675A>C (p.Ile225=) | |
| MT | m.3981A>G | CA414773933 | MT-ND1 | c.675A>G (p.Ile225Met) | dbSNP |
| MT | m.3981A>T | CA913176603 | MT-ND1 | c.675A>T (p.Ile225=) | |
| MT | m.3982G>A | CA414773934 | MT-ND1 | c.676G>A (p.Ala226Thr) | dbSNP COSMIC COSMIC |
| MT | m.3982G>C | CA414773935 | MT-ND1 | c.676G>C (p.Ala226Pro) | |
| MT | m.3982G= | CA2499563681 | MT-ND1 | c.676G= (p.Ala226=) | |
| MT | m.3982G>T | CA414773936 | MT-ND1 | c.676G>T (p.Ala226Ser) | |
| MT | m.3983C>A | CA414773937 | MT-ND1 | c.677C>A (p.Ala226Asp) | |
| MT | m.3983C= | CA2573328998 | MT-ND1 | c.677C= (p.Ala226=) | |
| MT | m.3983C>G | CA414773938 | MT-ND1 | c.677C>G (p.Ala226Gly) | |
| MT | m.3983C>T | CA414773939 | MT-ND1 | c.677C>T (p.Ala226Val) | |
| MT | m.3984C>A | CA913176622 | MT-ND1 | c.678C>A (p.Ala226=) | |
| MT | m.3984C= | CA2499563682 | MT-ND1 | c.678C= (p.Ala226=) | |
| MT | m.3984C>G | CA913176621 | MT-ND1 | c.678C>G (p.Ala226=) | |
| MT | m.3984C>T | CA913176620 | MT-ND1 | c.678C>T (p.Ala226=) | dbSNP |
| MT | m.3985G>A | CA414773940 | MT-ND1 | c.679G>A (p.Glu227Lys) | |
| MT | m.3985G>C | CA414773941 | MT-ND1 | c.679G>C (p.Glu227Gln) | |
| MT | m.3985G= | CA2573329003 | MT-ND1 | c.679G= (p.Glu227=) | |
| MT | m.3985G>T | CA414773942 | MT-ND1 | c.679G>T (p.Glu227Ter) | |
| MT | m.3986A= | CA2573329005 | MT-ND1 | c.680A= (p.Glu227=) | |
| MT | m.3986A>C | CA414773943 | MT-ND1 | c.680A>C (p.Glu227Ala) | |
| MT | m.3986A>G | CA414773944 | MT-ND1 | c.680A>G (p.Glu227Gly) | |
| MT | m.3986A>T | CA414773945 | MT-ND1 | c.680A>T (p.Glu227Val) | |
| MT | m.3987A= | CA2499563683 | MT-ND1 | c.681A= (p.Glu227=) | |
| MT | m.3987A>C | CA414773947 | MT-ND1 | c.681A>C (p.Glu227Asp) | |
| MT | m.3987A>G | CA913176624 | MT-ND1 | c.681A>G (p.Glu227=) | dbSNP |
| MT | m.3987A>T | CA414773946 | MT-ND1 | c.681A>T (p.Glu227Asp) | |
| MT | m.3988T>A | CA414773948 | MT-ND1 | c.682T>A (p.Tyr228Asn) | |
| MT | m.3988T>C | CA414773949 | MT-ND1 | c.682T>C (p.Tyr228His) | |
| MT | m.3988T>G | CA414773950 | MT-ND1 | c.682T>G (p.Tyr228Asp) | |
| MT | m.3988T= | CA2573329010 | MT-ND1 | c.682T= (p.Tyr228=) | |
| MT | m.3989A= | CA2573329012 | MT-ND1 | c.683A= (p.Tyr228=) | |
| MT | m.3989A>C | CA414773951 | MT-ND1 | c.683A>C (p.Tyr228Ser) | |
| MT | m.3989A>G | CA414773952 | MT-ND1 | c.683A>G (p.Tyr228Cys) | |
| MT | m.3989A>T | CA414773953 | MT-ND1 | c.683A>T (p.Tyr228Phe) | |
| MT | m.3992_3993del | CA2573104404 | MT-ND1 | c.686_687del (p.Thr229LysfsTer19) | |
| MT | m.3990C>A | CA414773954 | MT-ND1 | c.684C>A (p.Tyr228Ter) | |
| MT | m.3990C= | CA2499563684 | MT-ND1 | c.684C= (p.Tyr228=) | |
| MT | m.3990C>G | CA414773955 | MT-ND1 | c.684C>G (p.Tyr228Ter) | |
| MT | m.3990C>T | CA10581270 | MT-ND1 | c.684C>T (p.Tyr228=) | ClinVar dbSNP |
| MT | m.3991A= | CA2499563685 | MT-ND1 | c.685A= (p.Thr229=) | |
| MT | m.3991A>C | CA414773956 | MT-ND1 | c.685A>C (p.Thr229Pro) | |
| MT | m.3991A>G | CA414773957 | MT-ND1 | c.685A>G (p.Thr229Ala) | ClinVar dbSNP |
| MT | m.3991A>T | CA414773958 | MT-ND1 | c.685A>T (p.Thr229Ser) | |
| MT | m.3992C>A | CA414773959 | MT-ND1 | c.686C>A (p.Thr229Lys) | |
| MT | m.3992C= | CA2499563686 | MT-ND1 | c.686C= (p.Thr229=) | |
| MT | m.3992C>G | CA414773960 | MT-ND1 | c.686C>G (p.Thr229Arg) | |
| MT | m.3992C>T | CA337096751 | MT-ND1 | c.686C>T (p.Thr229Ile) | ClinVar dbSNP |
| MT | m.3993A= | CA2499563687 | MT-ND1 | c.687A= (p.Thr229=) | |
| MT | m.3993A>C | CA913176674 | MT-ND1 | c.687A>C (p.Thr229=) | |
| MT | m.3993A>G | CA913176666 | MT-ND1 | c.687A>G (p.Thr229=) | dbSNP |
| MT | m.3993A>T | CA913176664 | MT-ND1 | c.687A>T (p.Thr229=) | |
| MT | m.3994A= | CA2573329022 | MT-ND1 | c.688A= (p.Asn230=) | |
| MT | m.3994A>C | CA414773961 | MT-ND1 | c.688A>C (p.Asn230His) | |
| MT | m.3994A>G | CA414773963 | MT-ND1 | c.688A>G (p.Asn230Asp) | |
| MT | m.3994A>T | CA414773962 | MT-ND1 | c.688A>T (p.Asn230Tyr) | |
| MT | m.3995A= | CA2499563688 | MT-ND1 | c.689A= (p.Asn230=) | |
| MT | m.3995A>C | CA414773964 | MT-ND1 | c.689A>C (p.Asn230Thr) | dbSNP |
| MT | m.3995A>G | CA414773965 | MT-ND1 | c.689A>G (p.Asn230Ser) | ClinVar dbSNP |
| MT | m.3995A>T | CA414773966 | MT-ND1 | c.689A>T (p.Asn230Ile) | |
| MT | m.3996C>A | CA414773967 | MT-ND1 | c.690C>A (p.Asn230Lys) | |
| MT | m.3996C= | CA2499563689 | MT-ND1 | c.690C= (p.Asn230=) | |
| MT | m.3996C>G | CA414773968 | MT-ND1 | c.690C>G (p.Asn230Lys) | |
| MT | m.3996C>T | CA913176688 | MT-ND1 | c.690C>T (p.Asn230=) | dbSNP |
| MT | m.3997A= | CA2573329038 | MT-ND1 | c.691A= (p.Ile231=) | |
| MT | m.3997A>C | CA414773969 | MT-ND1 | c.691A>C (p.Ile231Leu) | |
| MT | m.3997A>G | CA414773970 | MT-ND1 | c.691A>G (p.Ile231Val) | |
| MT | m.3997A>T | CA414773971 | MT-ND1 | c.691A>T (p.Ile231Phe) | |
| MT | m.4002_4004del | CA2573104408 | MT-ND1 | c.696_698del (p.Ile233del) | |
| MT | m.3998T>A | CA414773972 | MT-ND1 | c.692T>A (p.Ile231Asn) | |
| MT | m.3998T>C | CA414773973 | MT-ND1 | c.692T>C (p.Ile231Thr) | dbSNP |
| MT | m.3998T>G | CA414773974 | MT-ND1 | c.692T>G (p.Ile231Ser) | |
| MT | m.3998T= | CA2499563690 | MT-ND1 | c.692T= (p.Ile231=) | |
| MT | m.3999T>A | CA913176696 | MT-ND1 | c.693T>A (p.Ile231=) | |
| MT | m.3999T>C | CA913176694 | MT-ND1 | c.693T>C (p.Ile231=) | |
| MT | m.3999T>G | CA414773975 | MT-ND1 | c.693T>G (p.Ile231Met) | |
| MT | m.3999T= | CA2573329040 | MT-ND1 | c.693T= (p.Ile231=) | |
| MT | m.4000A= | CA2573329042 | MT-ND1 | c.694A= (p.Ile232=) | |
| MT | m.4000A>C | CA414773976 | MT-ND1 | c.694A>C (p.Ile232Leu) | |
| MT | m.4000A>G | CA414773977 | MT-ND1 | c.694A>G (p.Ile232Val) | |
| MT | m.4000A>T | CA414773978 | MT-ND1 | c.694A>T (p.Ile232Phe) | |
| MT | m.4001T>A | CA414773979 | MT-ND1 | c.695T>A (p.Ile232Asn) | |
| MT | m.4001T>C | CA414773980 | MT-ND1 | c.695T>C (p.Ile232Thr) | dbSNP |
| MT | m.4001T>G | CA414773981 | MT-ND1 | c.695T>G (p.Ile232Ser) | |
| MT | m.4001T= | CA2499563691 | MT-ND1 | c.695T= (p.Ile232=) | |
| MT | m.4002T>A | CA913176704 | MT-ND1 | c.696T>A (p.Ile232=) | |
| MT | m.4002T>C | CA913176703 | MT-ND1 | c.696T>C (p.Ile232=) | dbSNP |
| MT | m.4002T>G | CA414773982 | MT-ND1 | c.696T>G (p.Ile232Met) | |
| MT | m.4002T= | CA2499563692 | MT-ND1 | c.696T= (p.Ile232=) | |
| MT | m.4003A= | CA2573329046 | MT-ND1 | c.697A= (p.Ile233=) | |
| MT | m.4003A>C | CA414773983 | MT-ND1 | c.697A>C (p.Ile233Leu) | |
| MT | m.4003A>G | CA414773984 | MT-ND1 | c.697A>G (p.Ile233Val) | |
| MT | m.4003A>T | CA414773985 | MT-ND1 | c.697A>T (p.Ile233Leu) | |
| MT | m.4004T>A | CA414773988 | MT-ND1 | c.698T>A (p.Ile233Lys) | |
| MT | m.4004T>C | CA414773987 | MT-ND1 | c.698T>C (p.Ile233Thr) | |
| MT | m.4004T>G | CA414773986 | MT-ND1 | c.698T>G (p.Ile233Arg) | |
| MT | m.4004T= | CA2573329048 | MT-ND1 | c.698T= (p.Ile233=) | |
| MT | m.4005A= | CA2499563693 | MT-ND1 | c.699A= (p.Ile233=) | |
| MT | m.4005A>C | CA913176709 | MT-ND1 | c.699A>C (p.Ile233=) | |
| MT | m.4005A>G | CA414773989 | MT-ND1 | c.699A>G (p.Ile233Met) | dbSNP |
| MT | m.4005A>T | CA913176708 | MT-ND1 | c.699A>T (p.Ile233=) | |
| MT | m.4006A= | CA2573329051 | MT-ND1 | c.700A= (p.Ile234=) | |
| MT | m.4006A>C | CA414773990 | MT-ND1 | c.700A>C (p.Ile234Leu) | |
| MT | m.4006A>G | CA414773991 | MT-ND1 | c.700A>G (p.Ile234Val) | |
| MT | m.4006A>T | CA414773992 | MT-ND1 | c.700A>T (p.Ile234Leu) | |
| MT | m.4007T>A | CA414773993 | MT-ND1 | c.701T>A (p.Ile234Lys) | |
| MT | m.4007T>C | CA414773994 | MT-ND1 | c.701T>C (p.Ile234Thr) | |
| MT | m.4007T>G | CA414773995 | MT-ND1 | c.701T>G (p.Ile234Arg) | |
| MT | m.4007T= | CA2573329053 | MT-ND1 | c.701T= (p.Ile234=) | |
| MT | m.4008A= | CA2573329054 | MT-ND1 | c.702A= (p.Ile234=) | |
| MT | m.4008A>C | CA913176716 | MT-ND1 | c.702A>C (p.Ile234=) | |
| MT | m.4008A>G | CA414773996 | MT-ND1 | c.702A>G (p.Ile234Met) | |
| MT | m.4008A>T | CA913176717 | MT-ND1 | c.702A>T (p.Ile234=) | |
| MT | m.4009A= | CA2573329057 | MT-ND1 | c.703A= (p.Asn235=) | |
| MT | m.4009A>C | CA414773997 | MT-ND1 | c.703A>C (p.Asn235His) | |
| MT | m.4009A>G | CA414773998 | MT-ND1 | c.703A>G (p.Asn235Asp) | |
| MT | m.4009A>T | CA414773999 | MT-ND1 | c.703A>T (p.Asn235Tyr) | |
| MT | m.4010A= | CA2573329059 | MT-ND1 | c.704A= (p.Asn235=) | |
| MT | m.4010A>C | CA414774002 | MT-ND1 | c.704A>C (p.Asn235Thr) | |
| MT | m.4010A>G | CA414774000 | MT-ND1 | c.704A>G (p.Asn235Ser) | |
| MT | m.4010A>T | CA414774001 | MT-ND1 | c.704A>T (p.Asn235Ile) | |
| MT | m.4011C>A | CA414774003 | MT-ND1 | c.705C>A (p.Asn235Lys) | |
| MT | m.4011C= | CA2499563694 | MT-ND1 | c.705C= (p.Asn235=) | |
| MT | m.4011C>G | CA414774004 | MT-ND1 | c.705C>G (p.Asn235Lys) | |
| MT | m.4011C>T | CA913176726 | MT-ND1 | c.705C>T (p.Asn235=) | dbSNP |
| MT | m.4012A= | CA2499563695 | MT-ND1 | c.706A= (p.Thr236=) | |
| MT | m.4012A>C | CA414774005 | MT-ND1 | c.706A>C (p.Thr236Pro) | |
| MT | m.4012A>G | CA337096753 | MT-ND1 | c.706A>G (p.Thr236Ala) | ClinVar dbSNP |
| MT | m.4012A>T | CA414774006 | MT-ND1 | c.706A>T (p.Thr236Ser) | |
| MT | m.4013C>A | CA414774007 | MT-ND1 | c.707C>A (p.Thr236Asn) | |
| MT | m.4013C= | CA2499563696 | MT-ND1 | c.707C= (p.Thr236=) | |
| MT | m.4013C>G | CA414774008 | MT-ND1 | c.707C>G (p.Thr236Ser) | |
| MT | m.4013C>T | CA414774009 | MT-ND1 | c.707C>T (p.Thr236Ile) | ClinVar dbSNP |
| MT | m.4014C>A | CA913176753 | MT-ND1 | c.708C>A (p.Thr236=) | |
| MT | m.4014C= | CA2573329065 | MT-ND1 | c.708C= (p.Thr236=) | |
| MT | m.4014C>G | CA913176747 | MT-ND1 | c.708C>G (p.Thr236=) | |
| MT | m.4014C>T | CA913176738 | MT-ND1 | c.708C>T (p.Thr236=) | |
| MT | m.4015C>A | CA414774010 | MT-ND1 | c.709C>A (p.Leu237Ile) | |
| MT | m.4015C= | CA2573329067 | MT-ND1 | c.709C= (p.Leu237=) | |
| MT | m.4015C>G | CA414774011 | MT-ND1 | c.709C>G (p.Leu237Val) | |
| MT | m.4015C>T | CA414774012 | MT-ND1 | c.709C>T (p.Leu237Phe) | |
| MT | m.4016T>A | CA414774014 | MT-ND1 | c.710T>A (p.Leu237His) | |
| MT | m.4016T>C | CA414774015 | MT-ND1 | c.710T>C (p.Leu237Pro) | |
| MT | m.4016T>G | CA414774013 | MT-ND1 | c.710T>G (p.Leu237Arg) | |
| MT | m.4016T= | CA2513618319 | MT-ND1 | c.710T= (p.Leu237=) | |
| MT | m.4017C>A | CA337096755 | MT-ND1 | c.711C>A (p.Leu237=) | |
| MT | m.4017C= | CA2499563697 | MT-ND1 | c.711C= (p.Leu237=) | |
| MT | m.4017C>G | CA337096757 | MT-ND1 | c.711C>G (p.Leu237=) | |
| MT | m.4017C>T | CA913176772 | MT-ND1 | c.711C>T (p.Leu237=) | dbSNP |
| MT | m.4018A= | CA2573329074 | MT-ND1 | c.712A= (p.Thr238=) | |
| MT | m.4018A>C | CA414774018 | MT-ND1 | c.712A>C (p.Thr238Pro) | |
| MT | m.4018A>G | CA414774016 | MT-ND1 | c.712A>G (p.Thr238Ala) | |
| MT | m.4018A>T | CA414774017 | MT-ND1 | c.712A>T (p.Thr238Ser) | |
| MT | m.4019C>A | CA414774019 | MT-ND1 | c.713C>A (p.Thr238Asn) | |
| MT | m.4019C= | CA2573329076 | MT-ND1 | c.713C= (p.Thr238=) | |
| MT | m.4019C>G | CA414774020 | MT-ND1 | c.713C>G (p.Thr238Ser) | |
| MT | m.4019C>T | CA414774021 | MT-ND1 | c.713C>T (p.Thr238Ile) | |
| MT | m.4020C>A | CA913176774 | MT-ND1 | c.714C>A (p.Thr238=) | |
| MT | m.4020C= | CA2573329078 | MT-ND1 | c.714C= (p.Thr238=) | |
| MT | m.4020C>G | CA913176775 | MT-ND1 | c.714C>G (p.Thr238=) | |
| MT | m.4020C>T | CA913176776 | MT-ND1 | c.714C>T (p.Thr238=) | dbSNP |
| MT | m.4021A= | CA2499563698 | MT-ND1 | c.715A= (p.Thr239=) | |
| MT | m.4021A>C | CA414774022 | MT-ND1 | c.715A>C (p.Thr239Pro) | |
| MT | m.4021A>G | CA337096759 | MT-ND1 | c.715A>G (p.Thr239Ala) | ClinVar dbSNP |
| MT | m.4021A>T | CA414774023 | MT-ND1 | c.715A>T (p.Thr239Ser) | |
| MT | m.4023_4025del | CA2573104412 | MT-ND1 | c.717_719del (p.Thr240del) | |
| MT | m.4022C>A | CA414774024 | MT-ND1 | c.716C>A (p.Thr239Asn) | |
| MT | m.4022C= | CA2573329082 | MT-ND1 | c.716C= (p.Thr239=) | |
| MT | m.4022C>G | CA414774025 | MT-ND1 | c.716C>G (p.Thr239Ser) | |
| MT | m.4022C>T | CA414774026 | MT-ND1 | c.716C>T (p.Thr239Ile) | |
| MT | m.4023T>A | CA913176799 | MT-ND1 | c.717T>A (p.Thr239=) | |
| MT | m.4023T>C | CA10581309 | MT-ND1 | c.717T>C (p.Thr239=) | ClinVar dbSNP |
| MT | m.4023T>G | CA913176801 | MT-ND1 | c.717T>G (p.Thr239=) | |
| MT | m.4023T= | CA2499563699 | MT-ND1 | c.717T= (p.Thr239=) | |
| MT | m.4024A= | CA2499563700 | MT-ND1 | c.718A= (p.Thr240=) | |
| MT | m.4024A>C | CA414774028 | MT-ND1 | c.718A>C (p.Thr240Pro) | |
| MT | m.4024A>G | CA337096762 | MT-ND1 | c.718A>G (p.Thr240Ala) | ClinVar dbSNP |
| MT | m.4024A>T | CA414774027 | MT-ND1 | c.718A>T (p.Thr240Ser) | |
| MT | m.4025C>A | CA337096766 | MT-ND1 | c.719C>A (p.Thr240Lys) | |
| MT | m.4025C= | CA2499563701 | MT-ND1 | c.719C= (p.Thr240=) | |
| MT | m.4025C>G | CA337096764 | MT-ND1 | c.719C>G (p.Thr240Arg) | |
| MT | m.4025C>T | CA344829 | MT-ND1 | c.719C>T (p.Thr240Ile) | ClinVar dbSNP |
| MT | m.4026A= | CA2499563702 | MT-ND1 | c.720A= (p.Thr240=) | |
| MT | m.4026A>C | CA913176804 | MT-ND1 | c.720A>C (p.Thr240=) | |
| MT | m.4026A>G | CA913176805 | MT-ND1 | c.720A>G (p.Thr240=) | dbSNP |
| MT | m.4026A>T | CA913176806 | MT-ND1 | c.720A>T (p.Thr240=) | |
| MT | m.4027A= | CA2573329094 | MT-ND1 | c.721A= (p.Ile241=) | |
| MT | m.4027A>C | CA414774029 | MT-ND1 | c.721A>C (p.Ile241Leu) | |
| MT | m.4027A>G | CA414774030 | MT-ND1 | c.721A>G (p.Ile241Val) | |
| MT | m.4027A>T | CA414774031 | MT-ND1 | c.721A>T (p.Ile241Phe) | |
| MT | m.4028T>A | CA414774032 | MT-ND1 | c.722T>A (p.Ile241Asn) | |
| MT | m.4028T>C | CA414774033 | MT-ND1 | c.722T>C (p.Ile241Thr) | dbSNP |
| MT | m.4028T>G | CA414774034 | MT-ND1 | c.722T>G (p.Ile241Ser) | |
| MT | m.4028T= | CA2499563703 | MT-ND1 | c.722T= (p.Ile241=) | |
| MT | m.4029C>A | CA913176820 | MT-ND1 | c.723C>A (p.Ile241=) | ClinVar dbSNP |
| MT | m.4029C= | CA2499563704 | MT-ND1 | c.723C= (p.Ile241=) | |
| MT | m.4029C>G | CA414774035 | MT-ND1 | c.723C>G (p.Ile241Met) | |
| MT | m.4029C>T | CA913176821 | MT-ND1 | c.723C>T (p.Ile241=) | dbSNP |
| MT | m.4030T>A | CA414774038 | MT-ND1 | c.724T>A (p.Phe242Ile) | |
| MT | m.4030T>C | CA414774037 | MT-ND1 | c.724T>C (p.Phe242Leu) | |
| MT | m.4030T>G | CA414774036 | MT-ND1 | c.724T>G (p.Phe242Val) | |
| MT | m.4030T= | CA2573329101 | MT-ND1 | c.724T= (p.Phe242=) | |
| MT | m.4031T>A | CA414774039 | MT-ND1 | c.725T>A (p.Phe242Tyr) | |
| MT | m.4031T>C | CA414774040 | MT-ND1 | c.725T>C (p.Phe242Ser) | |
| MT | m.4031T>G | CA414774041 | MT-ND1 | c.725T>G (p.Phe242Cys) | |
| MT | m.4031T= | CA2573329104 | MT-ND1 | c.725T= (p.Phe242=) | |
| MT | m.4032C>A | CA414774042 | MT-ND1 | c.726C>A (p.Phe242Leu) | |
| MT | m.4032C= | CA2573329107 | MT-ND1 | c.726C= (p.Phe242=) | |
| MT | m.4032C>G | CA414774043 | MT-ND1 | c.726C>G (p.Phe242Leu) | |
| MT | m.4032C>T | CA913176836 | MT-ND1 | c.726C>T (p.Phe242=) | |
| MT | m.4033C>A | CA414774044 | MT-ND1 | c.727C>A (p.Leu243Ile) | |
| MT | m.4033C= | CA2499563705 | MT-ND1 | c.727C= (p.Leu243=) | |
| MT | m.4033C>G | CA414774045 | MT-ND1 | c.727C>G (p.Leu243Val) | |
| MT | m.4033C>T | CA913176837 | MT-ND1 | c.727C>T (p.Leu243=) | dbSNP |