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.3501A= | CA2573327728 | MT-ND1 | c.195A= (p.Thr65=) | |
| MT | m.3501A>C | CA913169448 | MT-ND1 | c.195A>C (p.Thr65=) | |
| MT | m.3501A>G | CA913169447 | MT-ND1 | c.195A>G (p.Thr65=) | |
| MT | m.3501A>T | CA913169446 | MT-ND1 | c.195A>T (p.Thr65=) | |
| MT | m.3502T>A | CA414772917 | MT-ND1 | c.196T>A (p.Ser66Thr) | |
| MT | m.3502T>C | CA414772918 | MT-ND1 | c.196T>C (p.Ser66Pro) | ClinVar dbSNP |
| MT | m.3502T>G | CA414772919 | MT-ND1 | c.196T>G (p.Ser66Ala) | |
| MT | m.3502T= | CA2499563462 | MT-ND1 | c.196T= (p.Ser66=) | |
| MT | m.3503C>A | CA414772920 | MT-ND1 | c.197C>A (p.Ser66Tyr) | |
| MT | m.3503C= | CA2573327735 | MT-ND1 | c.197C= (p.Ser66=) | |
| MT | m.3503C>G | CA414772922 | MT-ND1 | c.197C>G (p.Ser66Cys) | |
| MT | m.3503C>T | CA414772921 | MT-ND1 | c.197C>T (p.Ser66Phe) | |
| MT | m.3504T>A | CA913169452 | MT-ND1 | c.198T>A (p.Ser66=) | |
| MT | m.3504T>C | CA913169451 | MT-ND1 | c.198T>C (p.Ser66=) | ClinVar dbSNP |
| MT | m.3504T>G | CA913169450 | MT-ND1 | c.198T>G (p.Ser66=) | |
| MT | m.3504T= | CA2499563463 | MT-ND1 | c.198T= (p.Ser66=) | |
| MT | m.3505A= | CA2499563464 | MT-ND1 | c.199A= (p.Thr67=) | |
| MT | m.3505A>C | CA414772923 | MT-ND1 | c.199A>C (p.Thr67Pro) | |
| MT | m.3505A>G | CA10586050 | MT-ND1 | c.199A>G (p.Thr67Ala) | ClinVar dbSNP |
| MT | m.3505A>T | CA414772924 | MT-ND1 | c.199A>T (p.Thr67Ser) | |
| MT | m.3506C>A | CA414772925 | MT-ND1 | c.200C>A (p.Thr67Asn) | |
| MT | m.3506C= | CA2573327742 | MT-ND1 | c.200C= (p.Thr67=) | |
| MT | m.3506C>G | CA414772926 | MT-ND1 | c.200C>G (p.Thr67Ser) | |
| MT | m.3506C>T | CA414772927 | MT-ND1 | c.200C>T (p.Thr67Ile) | |
| MT | m.3507C>A | CA337096562 | MT-ND1 | c.201C>A (p.Thr67=) | dbSNP |
| MT | m.3507C= | CA2499563465 | MT-ND1 | c.201C= (p.Thr67=) | |
| MT | m.3507C>G | CA337096564 | MT-ND1 | c.201C>G (p.Thr67=) | dbSNP |
| MT | m.3507C>T | CA913169455 | MT-ND1 | c.201C>T (p.Thr67=) | dbSNP |
| MT | m.3508A= | CA2499563466 | MT-ND1 | c.202A= (p.Ile68=) | |
| MT | m.3508A>C | CA414772928 | MT-ND1 | c.202A>C (p.Ile68Leu) | |
| MT | m.3508A>G | CA414772929 | MT-ND1 | c.202A>G (p.Ile68Val) | ClinVar dbSNP |
| MT | m.3508A>T | CA414772930 | MT-ND1 | c.202A>T (p.Ile68Phe) | |
| MT | m.3508_3509del | CA2573104444 | MT-ND1 | c.202_203del (p.Ile68HisfsTer?) | |
| MT | m.3509T>A | CA414772931 | MT-ND1 | c.203T>A (p.Ile68Asn) | |
| MT | m.3509T>C | CA414772933 | MT-ND1 | c.203T>C (p.Ile68Thr) | ClinVar dbSNP |
| MT | m.3509T>G | CA414772932 | MT-ND1 | c.203T>G (p.Ile68Ser) | |
| MT | m.3509T= | CA2499563467 | MT-ND1 | c.203T= (p.Ile68=) | |
| MT | m.3510C>A | CA913169464 | MT-ND1 | c.204C>A (p.Ile68=) | dbSNP |
| MT | m.3510C= | CA2499563468 | MT-ND1 | c.204C= (p.Ile68=) | |
| MT | m.3510C>G | CA414772934 | MT-ND1 | c.204C>G (p.Ile68Met) | |
| MT | m.3510C>T | CA913169463 | MT-ND1 | c.204C>T (p.Ile68=) | dbSNP |
| MT | m.3511_3512del | CA2739234997 | MT-ND1 | c.205_206del (p.Thr69ProfsTer?) | dbSNP |
| MT | m.3511A= | CA2499563469 | MT-ND1 | c.205A= (p.Thr69=) | |
| MT | m.3511A>C | CA337096566 | MT-ND1 | c.205A>C (p.Thr69Pro) | |
| MT | m.3511A>G | CA414772935 | MT-ND1 | c.205A>G (p.Thr69Ala) | ClinVar dbSNP |
| MT | m.3511A>T | CA337096568 | MT-ND1 | c.205A>T (p.Thr69Ser) | |
| MT | m.3512C>A | CA414772936 | MT-ND1 | c.206C>A (p.Thr69Asn) | |
| MT | m.3512C= | CA2499563470 | MT-ND1 | c.206C= (p.Thr69=) | |
| MT | m.3512C>G | CA414772937 | MT-ND1 | c.206C>G (p.Thr69Ser) | |
| MT | m.3512C>T | CA414772938 | MT-ND1 | c.206C>T (p.Thr69Ile) | dbSNP |
| MT | m.3513C>A | CA913169475 | MT-ND1 | c.207C>A (p.Thr69=) | |
| MT | m.3513C= | CA2499563471 | MT-ND1 | c.207C= (p.Thr69=) | |
| MT | m.3513C>G | CA913169473 | MT-ND1 | c.207C>G (p.Thr69=) | |
| MT | m.3513C>T | CA337096570 | MT-ND1 | c.207C>T (p.Thr69=) | ClinVar dbSNP |
| MT | m.3514C>A | CA414772939 | MT-ND1 | c.208C>A (p.Leu70Ile) | |
| MT | m.3514C= | CA2573327770 | MT-ND1 | c.208C= (p.Leu70=) | |
| MT | m.3514C>G | CA414772940 | MT-ND1 | c.208C>G (p.Leu70Val) | |
| MT | m.3514C>T | CA414772941 | MT-ND1 | c.208C>T (p.Leu70Phe) | |
| MT | m.3515T>A | CA414772942 | MT-ND1 | c.209T>A (p.Leu70His) | |
| MT | m.3515T>C | CA414772943 | MT-ND1 | c.209T>C (p.Leu70Pro) | |
| MT | m.3515T>G | CA414772944 | MT-ND1 | c.209T>G (p.Leu70Arg) | |
| MT | m.3515T= | CA2573327776 | MT-ND1 | c.209T= (p.Leu70=) | |
| MT | m.3516C>A | CA337096572 | MT-ND1 | c.210C>A (p.Leu70=) | dbSNP |
| MT | m.3516C= | CA2499563472 | MT-ND1 | c.210C= (p.Leu70=) | |
| MT | m.3516C>G | CA337096574 | MT-ND1 | c.210C>G (p.Leu70=) | |
| MT | m.3516C>T | CA337096576 | MT-ND1 | c.210C>T (p.Leu70=) | dbSNP |
| MT | m.3517T>A | CA414772945 | MT-ND1 | c.211T>A (p.Tyr71Asn) | |
| MT | m.3517T>C | CA414772946 | MT-ND1 | c.211T>C (p.Tyr71His) | |
| MT | m.3517T>G | CA414772947 | MT-ND1 | c.211T>G (p.Tyr71Asp) | |
| MT | m.3517T= | CA2573327783 | MT-ND1 | c.211T= (p.Tyr71=) | |
| MT | m.3517_3521del | CA2573104445 | MT-ND1 | c.211_215del (p.Tyr71HisfsTer?) | |
| MT | m.3518A= | CA2573327787 | MT-ND1 | c.212A= (p.Tyr71=) | |
| MT | m.3518A>C | CA414772948 | MT-ND1 | c.212A>C (p.Tyr71Ser) | |
| MT | m.3518A>G | CA414772949 | MT-ND1 | c.212A>G (p.Tyr71Cys) | |
| MT | m.3518A>T | CA414772950 | MT-ND1 | c.212A>T (p.Tyr71Phe) | |
| MT | m.3519C>A | CA414772951 | MT-ND1 | c.213C>A (p.Tyr71Ter) | |
| MT | m.3519C= | CA2573327790 | MT-ND1 | c.213C= (p.Tyr71=) | |
| MT | m.3519C>G | CA414772952 | MT-ND1 | c.213C>G (p.Tyr71Ter) | |
| MT | m.3519C>T | CA913169493 | MT-ND1 | c.213C>T (p.Tyr71=) | |
| MT | m.3520A= | CA2499563473 | MT-ND1 | c.214A= (p.Ile72=) | |
| MT | m.3520A>C | CA414772953 | MT-ND1 | c.214A>C (p.Ile72Leu) | |
| MT | m.3520A>G | CA414772954 | MT-ND1 | c.214A>G (p.Ile72Val) | ClinVar dbSNP |
| MT | m.3520A>T | CA414772955 | MT-ND1 | c.214A>T (p.Ile72Phe) | |
| MT | m.3521T>A | CA414772958 | MT-ND1 | c.215T>A (p.Ile72Asn) | |
| MT | m.3521T>C | CA414772957 | MT-ND1 | c.215T>C (p.Ile72Thr) | |
| MT | m.3521T>G | CA414772956 | MT-ND1 | c.215T>G (p.Ile72Ser) | |
| MT | m.3521T= | CA2573327800 | MT-ND1 | c.215T= (p.Ile72=) | |
| MT | m.3522C>A | CA913169501 | MT-ND1 | c.216C>A (p.Ile72=) | |
| MT | m.3522C= | CA2573327805 | MT-ND1 | c.216C= (p.Ile72=) | |
| MT | m.3522C>G | CA414772959 | MT-ND1 | c.216C>G (p.Ile72Met) | |
| MT | m.3522C>T | CA913169500 | MT-ND1 | c.216C>T (p.Ile72=) | |
| MT | m.3523A= | CA2499563474 | MT-ND1 | c.217A= (p.Thr73=) | |
| MT | m.3523A>C | CA414772960 | MT-ND1 | c.217A>C (p.Thr73Pro) | |
| MT | m.3523A>G | CA414772961 | MT-ND1 | c.217A>G (p.Thr73Ala) | ClinVar dbSNP |
| MT | m.3523A>T | CA337096578 | MT-ND1 | c.217A>T (p.Thr73Ser) | dbSNP |
| MT | m.3524C>A | CA414772962 | MT-ND1 | c.218C>A (p.Thr73Asn) | |
| MT | m.3524C= | CA2573327812 | MT-ND1 | c.218C= (p.Thr73=) | |
| MT | m.3524C>G | CA414772963 | MT-ND1 | c.218C>G (p.Thr73Ser) | |
| MT | m.3524C>T | CA414772964 | MT-ND1 | c.218C>T (p.Thr73Ile) | |
| MT | m.3525C>A | CA913169508 | MT-ND1 | c.219C>A (p.Thr73=) | dbSNP |
| MT | m.3525C= | CA2499563475 | MT-ND1 | c.219C= (p.Thr73=) | |
| MT | m.3525C>G | CA913169506 | MT-ND1 | c.219C>G (p.Thr73=) | |
| MT | m.3525C>T | CA913169504 | MT-ND1 | c.219C>T (p.Thr73=) | dbSNP |
| MT | m.3526G>A | CA414772965 | MT-ND1 | c.220G>A (p.Ala74Thr) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.3526G>C | CA414772966 | MT-ND1 | c.220G>C (p.Ala74Pro) | |
| MT | m.3526G= | CA2499563476 | MT-ND1 | c.220G= (p.Ala74=) | |
| MT | m.3526G>T | CA414772967 | MT-ND1 | c.220G>T (p.Ala74Ser) | |
| MT | m.3527C>A | CA414772968 | MT-ND1 | c.221C>A (p.Ala74Asp) | |
| MT | m.3527C= | CA2573327830 | MT-ND1 | c.221C= (p.Ala74=) | |
| MT | m.3527C>G | CA414772969 | MT-ND1 | c.221C>G (p.Ala74Gly) | |
| MT | m.3527C>T | CA414772970 | MT-ND1 | c.221C>T (p.Ala74Val) | |
| MT | m.3528C>A | CA913169527 | MT-ND1 | c.222C>A (p.Ala74=) | |
| MT | m.3528C= | CA2499563477 | MT-ND1 | c.222C= (p.Ala74=) | |
| MT | m.3528C>G | CA913169532 | MT-ND1 | c.222C>G (p.Ala74=) | |
| MT | m.3528C>T | CA913169525 | MT-ND1 | c.222C>T (p.Ala74=) | dbSNP |
| MT | m.3529C>A | CA414772971 | MT-ND1 | c.223C>A (p.Pro75Thr) | |
| MT | m.3529C= | CA2573327833 | MT-ND1 | c.223C= (p.Pro75=) | |
| MT | m.3529C>G | CA414772973 | MT-ND1 | c.223C>G (p.Pro75Ala) | |
| MT | m.3529C>T | CA414772972 | MT-ND1 | c.223C>T (p.Pro75Ser) | |
| MT | m.3530C>A | CA414772974 | MT-ND1 | c.224C>A (p.Pro75Gln) | |
| MT | m.3530C= | CA2573327836 | MT-ND1 | c.224C= (p.Pro75=) | |
| MT | m.3530C>G | CA414772975 | MT-ND1 | c.224C>G (p.Pro75Arg) | |
| MT | m.3530C>T | CA414772976 | MT-ND1 | c.224C>T (p.Pro75Leu) | |
| MT | m.3530_3531insACACT | CA2740098095 | MT-ND1 | c.224_225insACACT (p.Thr76HisfsTer2) | |
| MT | m.3531G>A | CA337096580 | MT-ND1 | c.225G>A (p.Pro75=) | dbSNP COSMIC COSMIC |
| MT | m.3531G>C | CA913169543 | MT-ND1 | c.225G>C (p.Pro75=) | |
| MT | m.3531G= | CA2499563478 | MT-ND1 | c.225G= (p.Pro75=) | |
| MT | m.3531G>T | CA913169552 | MT-ND1 | c.225G>T (p.Pro75=) | |
| MT | m.3532A= | CA2499563479 | MT-ND1 | c.226A= (p.Thr76=) | |
| MT | m.3532A>C | CA414772977 | MT-ND1 | c.226A>C (p.Thr76Pro) | |
| MT | m.3532A>G | CA414772978 | MT-ND1 | c.226A>G (p.Thr76Ala) | dbSNP |
| MT | m.3532A>T | CA414772979 | MT-ND1 | c.226A>T (p.Thr76Ser) | |
| MT | m.3533C>A | CA414772980 | MT-ND1 | c.227C>A (p.Thr76Asn) | |
| MT | m.3533C= | CA2499563480 | MT-ND1 | c.227C= (p.Thr76=) | |
| MT | m.3533C>G | CA414772981 | MT-ND1 | c.227C>G (p.Thr76Ser) | |
| MT | m.3533C>T | CA337096583 | MT-ND1 | c.227C>T (p.Thr76Ile) | ClinVar dbSNP |
| MT | m.3534C>A | CA913169556 | MT-ND1 | c.228C>A (p.Thr76=) | |
| MT | m.3534C= | CA2499563481 | MT-ND1 | c.228C= (p.Thr76=) | |
| MT | m.3534C>G | CA913169557 | MT-ND1 | c.228C>G (p.Thr76=) | |
| MT | m.3534C>T | CA913169559 | MT-ND1 | c.228C>T (p.Thr76=) | dbSNP |
| MT | m.3534_3536del | CA2740098096 | MT-ND1 | c.228_230del (p.Leu77del) | |
| MT | m.3535T>A | CA414772982 | MT-ND1 | c.229T>A (p.Leu77Ile) | ClinVar dbSNP |
| MT | m.3535T>C | CA645608449 | MT-ND1 | c.229T>C (p.Leu77=) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.3535T>G | CA414772983 | MT-ND1 | c.229T>G (p.Leu77Val) | |
| MT | m.3535T= | CA2499563482 | MT-ND1 | c.229T= (p.Leu77=) | |
| MT | m.3536T>A | CA414772984 | MT-ND1 | c.230T>A (p.Leu77Ter) | |
| MT | m.3536T>C | CA414772986 | MT-ND1 | c.230T>C (p.Leu77Ser) | |
| MT | m.3536T>G | CA414772985 | MT-ND1 | c.230T>G (p.Leu77Ter) | |
| MT | m.3536T= | CA2573327854 | MT-ND1 | c.230T= (p.Leu77=) | |
| MT | m.3537A= | CA2499563483 | MT-ND1 | c.231A= (p.Leu77=) | |
| MT | m.3537A>C | CA414772987 | MT-ND1 | c.231A>C (p.Leu77Phe) | |
| MT | m.3537A>G | CA337096584 | MT-ND1 | c.231A>G (p.Leu77=) | dbSNP |
| MT | m.3537A>T | CA414772988 | MT-ND1 | c.231A>T (p.Leu77Phe) | |
| MT | m.3538G>A | CA414772989 | MT-ND1 | c.232G>A (p.Ala78Thr) | COSMIC COSMIC |
| MT | m.3538G>C | CA414772990 | MT-ND1 | c.232G>C (p.Ala78Pro) | |
| MT | m.3538G= | CA2573327860 | MT-ND1 | c.232G= (p.Ala78=) | |
| MT | m.3538G>T | CA414772991 | MT-ND1 | c.232G>T (p.Ala78Ser) | |
| MT | m.3539C>A | CA414772992 | MT-ND1 | c.233C>A (p.Ala78Asp) | |
| MT | m.3539C= | CA2573327865 | MT-ND1 | c.233C= (p.Ala78=) | |
| MT | m.3539C>G | CA414772993 | MT-ND1 | c.233C>G (p.Ala78Gly) | |
| MT | m.3539C>T | CA414772994 | MT-ND1 | c.233C>T (p.Ala78Val) | |
| MT | m.3540T>A | CA913169580 | MT-ND1 | c.234T>A (p.Ala78=) | |
| MT | m.3540T>C | CA913169574 | MT-ND1 | c.234T>C (p.Ala78=) | dbSNP |
| MT | m.3540T>G | CA913169578 | MT-ND1 | c.234T>G (p.Ala78=) | dbSNP |
| MT | m.3540T= | CA2499563484 | MT-ND1 | c.234T= (p.Ala78=) | |
| MT | m.3541C>A | CA414772995 | MT-ND1 | c.235C>A (p.Leu79Ile) | |
| MT | m.3541C= | CA2573327869 | MT-ND1 | c.235C= (p.Leu79=) | |
| MT | m.3541C>G | CA414772996 | MT-ND1 | c.235C>G (p.Leu79Val) | |
| MT | m.3541C>T | CA414772997 | MT-ND1 | c.235C>T (p.Leu79Phe) | |
| MT | m.3542T>A | CA414772998 | MT-ND1 | c.236T>A (p.Leu79His) | |
| MT | m.3542T>C | CA414773000 | MT-ND1 | c.236T>C (p.Leu79Pro) | |
| MT | m.3542T>G | CA414772999 | MT-ND1 | c.236T>G (p.Leu79Arg) | |
| MT | m.3542T= | CA2573327871 | MT-ND1 | c.236T= (p.Leu79=) | |
| MT | m.3543C>A | CA913169595 | MT-ND1 | c.237C>A (p.Leu79=) | dbSNP |
| MT | m.3543C= | CA2499563485 | MT-ND1 | c.237C= (p.Leu79=) | |
| MT | m.3543C>G | CA913169598 | MT-ND1 | c.237C>G (p.Leu79=) | |
| MT | m.3543C>T | CA913169599 | MT-ND1 | c.237C>T (p.Leu79=) | dbSNP |
| MT | m.3544A= | CA2573327874 | MT-ND1 | c.238A= (p.Thr80=) | |
| MT | m.3544A>C | CA414773001 | MT-ND1 | c.238A>C (p.Thr80Pro) | |
| MT | m.3544A>G | CA414773002 | MT-ND1 | c.238A>G (p.Thr80Ala) | |
| MT | m.3544A>T | CA414773003 | MT-ND1 | c.238A>T (p.Thr80Ser) | |
| MT | m.3545C>A | CA414773004 | MT-ND1 | c.239C>A (p.Thr80Asn) | |
| MT | m.3545C= | CA2573327876 | MT-ND1 | c.239C= (p.Thr80=) | |
| MT | m.3545C>G | CA414773005 | MT-ND1 | c.239C>G (p.Thr80Ser) | |
| MT | m.3545C>T | CA414773006 | MT-ND1 | c.239C>T (p.Thr80Ile) | |
| MT | m.3546C>A | CA913169604 | MT-ND1 | c.240C>A (p.Thr80=) | dbSNP |
| MT | m.3546C= | CA2499563486 | MT-ND1 | c.240C= (p.Thr80=) | |
| MT | m.3546C>G | CA913169606 | MT-ND1 | c.240C>G (p.Thr80=) | |
| MT | m.3546C>T | CA913169607 | MT-ND1 | c.240C>T (p.Thr80=) | dbSNP |
| MT | m.3547A= | CA2499563487 | MT-ND1 | c.241A= (p.Ile81=) | |
| MT | m.3547A>C | CA414773007 | MT-ND1 | c.241A>C (p.Ile81Leu) | |
| MT | m.3547A>G | CA337096586 | MT-ND1 | c.241A>G (p.Ile81Val) | ClinVar dbSNP |
| MT | m.3547A>T | CA414773008 | MT-ND1 | c.241A>T (p.Ile81Phe) | |
| MT | m.3548T>A | CA414773010 | MT-ND1 | c.242T>A (p.Ile81Asn) | |
| MT | m.3548T>C | CA10581196 | MT-ND1 | c.242T>C (p.Ile81Thr) | ClinVar dbSNP |
| MT | m.3548T>G | CA414773009 | MT-ND1 | c.242T>G (p.Ile81Ser) | |
| MT | m.3548T= | CA2499563488 | MT-ND1 | c.242T= (p.Ile81=) | |
| MT | m.3549C>A | CA913169628 | MT-ND1 | c.243C>A (p.Ile81=) | |
| MT | m.3549C= | CA2499563489 | MT-ND1 | c.243C= (p.Ile81=) | |
| MT | m.3549C>G | CA414773011 | MT-ND1 | c.243C>G (p.Ile81Met) | |
| MT | m.3549C>T | CA913169629 | MT-ND1 | c.243C>T (p.Ile81=) | dbSNP |
| MT | m.3550G>A | CA414773012 | MT-ND1 | c.244G>A (p.Ala82Thr) | |
| MT | m.3550G>C | CA414773013 | MT-ND1 | c.244G>C (p.Ala82Pro) | |
| MT | m.3550G= | CA2499563490 | MT-ND1 | c.244G= (p.Ala82=) | |
| MT | m.3550G>T | CA414773014 | MT-ND1 | c.244G>T (p.Ala82Ser) | dbSNP |
| MT | m.3551C>A | CA414773015 | MT-ND1 | c.245C>A (p.Ala82Asp) | |
| MT | m.3551C= | CA2513641671 | MT-ND1 | c.245C= (p.Ala82=) | |
| MT | m.3551C>G | CA414773016 | MT-ND1 | c.245C>G (p.Ala82Gly) | |
| MT | m.3551C>T | CA414773017 | MT-ND1 | c.245C>T (p.Ala82Val) | |
| MT | m.3552T>A | CA337096589 | MT-ND1 | c.246T>A (p.Ala82=) | ClinVar dbSNP |
| MT | m.3552T>C | CA337096591 | MT-ND1 | c.246T>C (p.Ala82=) | dbSNP |
| MT | m.3552T>G | CA913169633 | MT-ND1 | c.246T>G (p.Ala82=) | |
| MT | m.3552T= | CA2499563491 | MT-ND1 | c.246T= (p.Ala82=) | |
| MT | m.3553C>A | CA414773018 | MT-ND1 | c.247C>A (p.Leu83Ile) | |
| MT | m.3553C= | CA2573327897 | MT-ND1 | c.247C= (p.Leu83=) | |
| MT | m.3553C>G | CA414773019 | MT-ND1 | c.247C>G (p.Leu83Val) | |
| MT | m.3553C>T | CA414773020 | MT-ND1 | c.247C>T (p.Leu83Phe) | |
| MT | m.3554T>A | CA414773023 | MT-ND1 | c.248T>A (p.Leu83His) | |
| MT | m.3554T>C | CA414773021 | MT-ND1 | c.248T>C (p.Leu83Pro) | dbSNP |
| MT | m.3554T>G | CA414773022 | MT-ND1 | c.248T>G (p.Leu83Arg) | |
| MT | m.3554T= | CA2499563492 | MT-ND1 | c.248T= (p.Leu83=) | |
| MT | m.3555T>A | CA913169638 | MT-ND1 | c.249T>A (p.Leu83=) | |
| MT | m.3555T>C | CA913169637 | MT-ND1 | c.249T>C (p.Leu83=) | ClinVar dbSNP |
| MT | m.3555T>G | CA913169636 | MT-ND1 | c.249T>G (p.Leu83=) | |
| MT | m.3555T= | CA2499563493 | MT-ND1 | c.249T= (p.Leu83=) | |
| MT | m.3556_3560del | CA2573104446 | MT-ND1 | c.250_254del (p.Leu84MetfsTer25) | |
| MT | m.3556C>A | CA414773024 | MT-ND1 | c.250C>A (p.Leu84Ile) | |
| MT | m.3556C= | CA2573327906 | MT-ND1 | c.250C= (p.Leu84=) | |
| MT | m.3556C>G | CA414773025 | MT-ND1 | c.250C>G (p.Leu84Val) | |
| MT | m.3556C>T | CA913169640 | MT-ND1 | c.250C>T (p.Leu84=) | |
| MT | m.3557T>A | CA414773026 | MT-ND1 | c.251T>A (p.Leu84Gln) | |
| MT | m.3557T>C | CA414773027 | MT-ND1 | c.251T>C (p.Leu84Pro) | |
| MT | m.3557T>G | CA414773028 | MT-ND1 | c.251T>G (p.Leu84Arg) | |
| MT | m.3557T= | CA2573327910 | MT-ND1 | c.251T= (p.Leu84=) | |
| MT | m.3558A= | CA2573327912 | MT-ND1 | c.252A= (p.Leu84=) | |
| MT | m.3558A>C | CA913169645 | MT-ND1 | c.252A>C (p.Leu84=) | |
| MT | m.3558A>G | CA913169650 | MT-ND1 | c.252A>G (p.Leu84=) | dbSNP |
| MT | m.3558A>T | CA913169648 | MT-ND1 | c.252A>T (p.Leu84=) | |
| MT | m.3559C>A | CA414773029 | MT-ND1 | c.253C>A (p.Leu85Ile) | |
| MT | m.3559C= | CA2499563494 | MT-ND1 | c.253C= (p.Leu85=) | |
| MT | m.3559C>G | CA414773030 | MT-ND1 | c.253C>G (p.Leu85Val) | |
| MT | m.3559C>T | CA913169651 | MT-ND1 | c.253C>T (p.Leu85=) | dbSNP |
| MT | m.3560T>A | CA414773031 | MT-ND1 | c.254T>A (p.Leu85Gln) | |
| MT | m.3560T>C | CA414773032 | MT-ND1 | c.254T>C (p.Leu85Pro) | |
| MT | m.3560T>G | CA414773033 | MT-ND1 | c.254T>G (p.Leu85Arg) | |
| MT | m.3560T= | CA2573327917 | MT-ND1 | c.254T= (p.Leu85=) | |
| MT | m.3561A= | CA2573327918 | MT-ND1 | c.255A= (p.Leu85=) | |
| MT | m.3561A>C | CA913169660 | MT-ND1 | c.255A>C (p.Leu85=) | |
| MT | m.3561A>G | CA913169659 | MT-ND1 | c.255A>G (p.Leu85=) | |
| MT | m.3561A>T | CA913169658 | MT-ND1 | c.255A>T (p.Leu85=) | |
| MT | m.3562T>A | CA414773034 | MT-ND1 | c.256T>A (p.Ter86Arg) | |
| MT | m.3562T>C | CA414773036 | MT-ND1 | c.256T>C (p.Ter86Arg) | |
| MT | m.3562T>G | CA414773037 | MT-ND1 | c.256T>G (p.Ter86Gly) | |
| MT | m.3562T= | CA414773035 | MT-ND1 | c.256T= (p.Ter86=) | |
| MT | m.3563G>A | CA414773041 | MT-ND1 | c.257G>A (p.Ter86=) | |
| MT | m.3563G>C | CA414773038 | MT-ND1 | c.257G>C (p.Ter86Ser) | |
| MT | m.3563G= | CA414773039 | MT-ND1 | c.257G= (p.Ter86=) | |
| MT | m.3563G>T | CA414773040 | MT-ND1 | c.257G>T (p.Ter86Leu) | |
| MT | m.3564A= | CA414773042 | MT-ND1 | c.258A= (p.Ter86=) | |
| MT | m.3564A>C | CA414773043 | MT-ND1 | c.258A>C (p.Ter86Cys) | |
| MT | m.3564A>G | CA414773044 | MT-ND1 | c.258A>G (p.Ter86Trp) | dbSNP |
| MT | m.3564A>T | CA414773045 | MT-ND1 | c.258A>T (p.Ter86Cys) | |
| MT | m.3565A= | CA913169665 | MT-ND1 | c.259A= (p.Thr87=) | |
| MT | m.3565A>C | CA414773046 | MT-ND1 | c.259A>C (p.Thr87Pro) | |
| MT | m.3565A>G | CA337096593 | MT-ND1 | c.259A>G (p.Thr87Ala) | ClinVar dbSNP |
| MT | m.3565A>T | CA414773047 | MT-ND1 | c.259A>T (p.Thr87Ser) | |
| MT | m.3565_3566delinsAC | CA2499563495 | MT-ND1 | c.259_260delinsAC (p.Thr87=) | |
| MT | m.3566C>A | CA414773048 | MT-ND1 | c.260C>A (p.Thr87Asn) | |
| MT | m.3566C= | CA2573327926 | MT-ND1 | c.260C= (p.Thr87=) | |
| MT | m.3566C>G | CA414773049 | MT-ND1 | c.260C>G (p.Thr87Ser) | |
| MT | m.3566C>T | CA414773050 | MT-ND1 | c.260C>T (p.Thr87Ile) | |
| MT | m.3571dup | CA920599313 | MT-ND1 | c.265dup (p.Leu89ProfsTer22) | dbSNP |
| MT | m.3571del | CA915952197 | MT-ND1 | c.265del (p.Leu89SerfsTer12) | ClinVar dbSNP |
| MT | m.3567C>A | CA913169674 | MT-ND1 | c.261C>A (p.Thr87=) | dbSNP |
| MT | m.3567C= | CA2499563496 | MT-ND1 | c.261C= (p.Thr87=) | |
| MT | m.3567C>G | CA913169682 | MT-ND1 | c.261C>G (p.Thr87=) | |
| MT | m.3567C>T | CA913169672 | MT-ND1 | c.261C>T (p.Thr87=) | dbSNP |
| MT | m.3568C>A | CA414773053 | MT-ND1 | c.262C>A (p.Pro88Thr) | |
| MT | m.3568C= | CA2499563497 | MT-ND1 | c.262C= (p.Pro88=) | |
| MT | m.3568C>G | CA414773051 | MT-ND1 | c.262C>G (p.Pro88Ala) | |
| MT | m.3568C>T | CA414773052 | MT-ND1 | c.262C>T (p.Pro88Ser) | dbSNP |
| MT | m.3569C>A | CA414773054 | MT-ND1 | c.263C>A (p.Pro88His) | |
| MT | m.3569C= | CA2499563498 | MT-ND1 | c.263C= (p.Pro88=) | |
| MT | m.3569C>G | CA414773055 | MT-ND1 | c.263C>G (p.Pro88Arg) | |
| MT | m.3569C>T | CA414773056 | MT-ND1 | c.263C>T (p.Pro88Leu) | ClinVar dbSNP |
| MT | m.3570C>A | CA913169686 | MT-ND1 | c.264C>A (p.Pro88=) | |
| MT | m.3570C= | CA2499563499 | MT-ND1 | c.264C= (p.Pro88=) | |
| MT | m.3570C>G | CA913169689 | MT-ND1 | c.264C>G (p.Pro88=) | |
| MT | m.3570C>T | CA913169687 | MT-ND1 | c.264C>T (p.Pro88=) | dbSNP |
| MT | m.3571C>A | CA414773057 | MT-ND1 | c.265C>A (p.Leu89Ile) | |
| MT | m.3571C= | CA2499563500 | MT-ND1 | c.265C= (p.Leu89=) | |
| MT | m.3571C>G | CA414773058 | MT-ND1 | c.265C>G (p.Leu89Val) | |
| MT | m.3571C>T | CA337096595 | MT-ND1 | c.265C>T (p.Leu89Phe) | ClinVar dbSNP |
| MT | m.3572T>A | CA414773059 | MT-ND1 | c.266T>A (p.Leu89His) | |
| MT | m.3572T>C | CA414773060 | MT-ND1 | c.266T>C (p.Leu89Pro) | |
| MT | m.3572T>G | CA414773061 | MT-ND1 | c.266T>G (p.Leu89Arg) | |
| MT | m.3572T= | CA2573327944 | MT-ND1 | c.266T= (p.Leu89=) | |
| MT | m.3573C>A | CA913169695 | MT-ND1 | c.267C>A (p.Leu89=) | dbSNP |
| MT | m.3573C= | CA2499563501 | MT-ND1 | c.267C= (p.Leu89=) | |
| MT | m.3573C>G | CA913169694 | MT-ND1 | c.267C>G (p.Leu89=) | |
| MT | m.3573C>T | CA913169693 | MT-ND1 | c.267C>T (p.Leu89=) | dbSNP |
| MT | m.3574C>A | CA414773062 | MT-ND1 | c.268C>A (p.Pro90Thr) | |
| MT | m.3574C= | CA2573327950 | MT-ND1 | c.268C= (p.Pro90=) | |
| MT | m.3574C>G | CA414773063 | MT-ND1 | c.268C>G (p.Pro90Ala) | |
| MT | m.3574C>T | CA414773064 | MT-ND1 | c.268C>T (p.Pro90Ser) | |
| MT | m.3575C>A | CA414773065 | MT-ND1 | c.269C>A (p.Pro90His) | |
| MT | m.3575C= | CA2573327952 | MT-ND1 | c.269C= (p.Pro90=) | |
| MT | m.3575C>G | CA414773067 | MT-ND1 | c.269C>G (p.Pro90Arg) | |
| MT | m.3575C>T | CA414773066 | MT-ND1 | c.269C>T (p.Pro90Leu) | |
| MT | m.3576C>A | CA913169697 | MT-ND1 | c.270C>A (p.Pro90=) | |
| MT | m.3576C= | CA2499563502 | MT-ND1 | c.270C= (p.Pro90=) | |
| MT | m.3576C>G | CA913169698 | MT-ND1 | c.270C>G (p.Pro90=) | |
| MT | m.3576C>T | CA913169699 | MT-ND1 | c.270C>T (p.Pro90=) | dbSNP |
| MT | m.3577A= | CA2573327957 | MT-ND1 | c.271A= (p.Ile91=) | |
| MT | m.3577A>C | CA414773068 | MT-ND1 | c.271A>C (p.Ile91Leu) | |
| MT | m.3577A>G | CA414773069 | MT-ND1 | c.271A>G (p.Ile91Val) | |
| MT | m.3577A>T | CA414773070 | MT-ND1 | c.271A>T (p.Ile91Leu) | |
| MT | m.3578T>A | CA414773071 | MT-ND1 | c.272T>A (p.Ile91Lys) | |
| MT | m.3578T>C | CA414773072 | MT-ND1 | c.272T>C (p.Ile91Thr) | dbSNP |
| MT | m.3578T>G | CA414773073 | MT-ND1 | c.272T>G (p.Ile91Arg) | |
| MT | m.3578T= | CA2499563503 | MT-ND1 | c.272T= (p.Ile91=) | |
| MT | m.3579A= | CA2499563504 | MT-ND1 | c.273A= (p.Ile91=) | |
| MT | m.3579A>C | CA913169709 | MT-ND1 | c.273A>C (p.Ile91=) | |
| MT | m.3579A>G | CA414773074 | MT-ND1 | c.273A>G (p.Ile91Met) | dbSNP |
| MT | m.3579A>T | CA913169710 | MT-ND1 | c.273A>T (p.Ile91=) | |
| MT | m.3580C>A | CA414773075 | MT-ND1 | c.274C>A (p.Pro92Thr) | |
| MT | m.3580C= | CA2573327967 | MT-ND1 | c.274C= (p.Pro92=) | |
| MT | m.3580C>G | CA414773076 | MT-ND1 | c.274C>G (p.Pro92Ala) | |
| MT | m.3580C>T | CA414773077 | MT-ND1 | c.274C>T (p.Pro92Ser) | |
| MT | m.3581C>A | CA414773078 | MT-ND1 | c.275C>A (p.Pro92His) | |
| MT | m.3581C= | CA2573327972 | MT-ND1 | c.275C= (p.Pro92=) | |
| MT | m.3581C>G | CA414773079 | MT-ND1 | c.275C>G (p.Pro92Arg) | |
| MT | m.3581C>T | CA414773080 | MT-ND1 | c.275C>T (p.Pro92Leu) | |
| MT | m.3582C>A | CA913169715 | MT-ND1 | c.276C>A (p.Pro92=) | |
| MT | m.3582C= | CA2499563505 | MT-ND1 | c.276C= (p.Pro92=) | |
| MT | m.3582C>G | CA913169717 | MT-ND1 | c.276C>G (p.Pro92=) | |
| MT | m.3582C>T | CA10581344 | MT-ND1 | c.276C>T (p.Pro92=) | ClinVar dbSNP |
| MT | m.3583A= | CA2573327981 | MT-ND1 | c.277A= (p.Asn93=) | |
| MT | m.3583A>C | CA414773081 | MT-ND1 | c.277A>C (p.Asn93His) | |
| MT | m.3583A>G | CA414773082 | MT-ND1 | c.277A>G (p.Asn93Asp) | |
| MT | m.3583A>T | CA414773083 | MT-ND1 | c.277A>T (p.Asn93Tyr) | |
| MT | m.3583_3584del | CA2573104447 | MT-ND1 | c.277_278del (p.Asn93ProfsTer17) | |
| MT | m.3584del | CA2740098097 | MT-ND1 | c.278del (p.Asn93ThrfsTer8) | |
| MT | m.3583_3584insCCTTTCCCTGC | CA2740098098 | MT-ND1 | c.277_278insCCTTTCCCTGC (p.Asn93ThrfsTer12) | |
| MT | m.3584A= | CA2573327983 | MT-ND1 | c.278A= (p.Asn93=) | |
| MT | m.3584A>C | CA414773084 | MT-ND1 | c.278A>C (p.Asn93Thr) | |
| MT | m.3584A>G | CA414773085 | MT-ND1 | c.278A>G (p.Asn93Ser) | dbSNP |
| MT | m.3584A>T | CA414773086 | MT-ND1 | c.278A>T (p.Asn93Ile) | |
| MT | m.3585C>A | CA414773087 | MT-ND1 | c.279C>A (p.Asn93Lys) | |
| MT | m.3585C= | CA2499563506 | MT-ND1 | c.279C= (p.Asn93=) | |
| MT | m.3585C>G | CA414773088 | MT-ND1 | c.279C>G (p.Asn93Lys) | |
| MT | m.3585C>T | CA913169724 | MT-ND1 | c.279C>T (p.Asn93=) | dbSNP |
| MT | m.3589dup | CA2573104448 | MT-ND1 | c.283dup (p.Leu95ProfsTer16) | |
| MT | m.3585_3586insACCTT | CA2740098099 | MT-ND1 | c.279_280insACCTT (p.Pro94ThrfsTer9) | |
| MT | m.3586C>A | CA414773089 | MT-ND1 | c.280C>A (p.Pro94Thr) | |
| MT | m.3586C= | CA2573327990 | MT-ND1 | c.280C= (p.Pro94=) | |
| MT | m.3586C>G | CA414773090 | MT-ND1 | c.280C>G (p.Pro94Ala) | |
| MT | m.3586C>T | CA414773091 | MT-ND1 | c.280C>T (p.Pro94Ser) | |
| MT | m.3587C>A | CA414773092 | MT-ND1 | c.281C>A (p.Pro94His) | |
| MT | m.3587C= | CA2573327992 | MT-ND1 | c.281C= (p.Pro94=) | |
| MT | m.3587C>G | CA414773094 | MT-ND1 | c.281C>G (p.Pro94Arg) | |
| MT | m.3587C>T | CA414773093 | MT-ND1 | c.281C>T (p.Pro94Leu) | |
| MT | m.3588C>A | CA913169737 | MT-ND1 | c.282C>A (p.Pro94=) | |
| MT | m.3588C= | CA2499563507 | MT-ND1 | c.282C= (p.Pro94=) | |
| MT | m.3588C>G | CA913169735 | MT-ND1 | c.282C>G (p.Pro94=) | |
| MT | m.3588C>T | CA337096598 | MT-ND1 | c.282C>T (p.Pro94=) | dbSNP |
| MT | m.3589C>A | CA414773096 | MT-ND1 | c.283C>A (p.Leu95Met) | |
| MT | m.3589C= | CA2499563508 | MT-ND1 | c.283C= (p.Leu95=) | |
| MT | m.3589C>G | CA414773095 | MT-ND1 | c.283C>G (p.Leu95Val) | |
| MT | m.3589C>T | CA337096600 | MT-ND1 | c.283C>T (p.Leu95=) | dbSNP |
| MT | m.3590del | CA2573104449 | MT-ND1 | c.284del (p.Leu95ArgfsTer6) | |
| MT | m.3590T>A | CA414773097 | MT-ND1 | c.284T>A (p.Leu95Gln) | |
| MT | m.3590T>C | CA414773098 | MT-ND1 | c.284T>C (p.Leu95Pro) | dbSNP |
| MT | m.3590T>G | CA414773099 | MT-ND1 | c.284T>G (p.Leu95Arg) | |
| MT | m.3590T= | CA2499563509 | MT-ND1 | c.284T= (p.Leu95=) | |
| MT | m.3591G>A | CA645608450 | MT-ND1 | c.285G>A (p.Leu95=) | dbSNP COSMIC COSMIC |
| MT | m.3591G>C | CA913169751 | MT-ND1 | c.285G>C (p.Leu95=) | |
| MT | m.3591G= | CA2499563510 | MT-ND1 | c.285G= (p.Leu95=) | |
| MT | m.3591G>T | CA913169755 | MT-ND1 | c.285G>T (p.Leu95=) | |
| MT | m.3592G>A | CA414773100 | MT-ND1 | c.286G>A (p.Val96Ile) | ClinVar dbSNP |
| MT | m.3592G>C | CA414773101 | MT-ND1 | c.286G>C (p.Val96Leu) | |
| MT | m.3592G= | CA2499563511 | MT-ND1 | c.286G= (p.Val96=) | |
| MT | m.3592G>T | CA414773102 | MT-ND1 | c.286G>T (p.Val96Phe) | |
| MT | m.3593T>A | CA414773103 | MT-ND1 | c.287T>A (p.Val96Asp) | |
| MT | m.3593T>C | CA337096602 | MT-ND1 | c.287T>C (p.Val96Ala) | ClinVar dbSNP |
| MT | m.3593T>G | CA414773104 | MT-ND1 | c.287T>G (p.Val96Gly) | |
| MT | m.3593T= | CA2499563512 | MT-ND1 | c.287T= (p.Val96=) | |
| MT | m.3594C>A | CA913169774 | MT-ND1 | c.288C>A (p.Val96=) | |
| MT | m.3594C= | CA2499563513 | MT-ND1 | c.288C= (p.Val96=) | |
| MT | m.3594C>G | CA913169772 | MT-ND1 | c.288C>G (p.Val96=) | |
| MT | m.3594C>T | CA337096604 | MT-ND1 | c.288C>T (p.Val96=) | dbSNP |
| MT | m.3595A= | CA2499563514 | MT-ND1 | c.289A= (p.Asn97=) | |
| MT | m.3595A>C | CA414773105 | MT-ND1 | c.289A>C (p.Asn97His) | |
| MT | m.3595A>G | CA414773106 | MT-ND1 | c.289A>G (p.Asn97Asp) | dbSNP |
| MT | m.3595A>T | CA414773107 | MT-ND1 | c.289A>T (p.Asn97Tyr) | |
| MT | m.3596A= | CA2573328013 | MT-ND1 | c.290A= (p.Asn97=) | |
| MT | m.3596A>C | CA414773108 | MT-ND1 | c.290A>C (p.Asn97Thr) | |
| MT | m.3596A>G | CA414773109 | MT-ND1 | c.290A>G (p.Asn97Ser) | |
| MT | m.3596A>T | CA414773110 | MT-ND1 | c.290A>T (p.Asn97Ile) | |
| MT | m.3597C>A | CA414773112 | MT-ND1 | c.291C>A (p.Asn97Lys) | |
| MT | m.3597C= | CA2573328018 | MT-ND1 | c.291C= (p.Asn97=) | |
| MT | m.3597C>G | CA414773113 | MT-ND1 | c.291C>G (p.Asn97Lys) | |
| MT | m.3597C>T | CA913169789 | MT-ND1 | c.291C>T (p.Asn97=) | |
| MT | m.3598C>A | CA414773114 | MT-ND1 | c.292C>A (p.Leu98Ile) | |
| MT | m.3598C= | CA2573328021 | MT-ND1 | c.292C= (p.Leu98=) | |
| MT | m.3598C>G | CA414773115 | MT-ND1 | c.292C>G (p.Leu98Val) | |
| MT | m.3598C>T | CA414773116 | MT-ND1 | c.292C>T (p.Leu98Phe) | |
| MT | m.3599T>A | CA414773118 | MT-ND1 | c.293T>A (p.Leu98His) | |
| MT | m.3599T>C | CA414773119 | MT-ND1 | c.293T>C (p.Leu98Pro) | |
| MT | m.3599T>G | CA414773117 | MT-ND1 | c.293T>G (p.Leu98Arg) | |
| MT | m.3599T= | CA2573328026 | MT-ND1 | c.293T= (p.Leu98=) | |
| MT | m.3600C>A | CA913169807 | MT-ND1 | c.294C>A (p.Leu98=) | dbSNP |
| MT | m.3600C= | CA2499563515 | MT-ND1 | c.294C= (p.Leu98=) | |
| MT | m.3600C>G | CA913169808 | MT-ND1 | c.294C>G (p.Leu98=) | |
| MT | m.3600C>T | CA913169809 | MT-ND1 | c.294C>T (p.Leu98=) | |
| MT | m.3601A= | CA2573328030 | MT-ND1 | c.295A= (p.Asn99=) | |
| MT | m.3601A>C | CA414773120 | MT-ND1 | c.295A>C (p.Asn99His) | |
| MT | m.3601A>G | CA414773121 | MT-ND1 | c.295A>G (p.Asn99Asp) | |
| MT | m.3601A>T | CA414773122 | MT-ND1 | c.295A>T (p.Asn99Tyr) |