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.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) | |
| MT | m.3481G>A | CA345910 | MT-ND1 | c.175G>A (p.Glu59Lys) | ClinVar dbSNP |
| MT | m.3481G>C | CA414772875 | MT-ND1 | c.175G>C (p.Glu59Gln) | |
| MT | m.3481G= | CA2499563452 | MT-ND1 | c.175G= (p.Glu59=) | |
| MT | m.3481G>T | CA414772876 | MT-ND1 | c.175G>T (p.Glu59Ter) | |
| MT | m.3482A= | CA2513082043 | MT-ND1 | c.176A= (p.Glu59=) | |
| MT | m.3482A>C | CA414772877 | MT-ND1 | c.176A>C (p.Glu59Ala) | |
| MT | m.3482A>G | CA414772878 | MT-ND1 | c.176A>G (p.Glu59Gly) | |
| MT | m.3482A>T | CA414772879 | MT-ND1 | c.176A>T (p.Glu59Val) | |
| MT | m.3483G>A | CA337096552 | MT-ND1 | c.177G>A (p.Glu59=) | dbSNP |
| MT | m.3483G>C | CA414772881 | MT-ND1 | c.177G>C (p.Glu59Asp) | |
| MT | m.3483G= | CA2499563453 | MT-ND1 | c.177G= (p.Glu59=) | |
| MT | m.3483G>T | CA414772880 | MT-ND1 | c.177G>T (p.Glu59Asp) | |
| MT | m.3484C>A | CA414772882 | MT-ND1 | c.178C>A (p.Pro60Thr) | |
| MT | m.3484C= | CA2573327678 | MT-ND1 | c.178C= (p.Pro60=) | |
| MT | m.3484C>G | CA414772884 | MT-ND1 | c.178C>G (p.Pro60Ala) | |
| MT | m.3484C>T | CA414772883 | MT-ND1 | c.178C>T (p.Pro60Ser) | |
| MT | m.3485C>A | CA414772885 | MT-ND1 | c.179C>A (p.Pro60His) | |
| MT | m.3485C= | CA2573327682 | MT-ND1 | c.179C= (p.Pro60=) | |
| MT | m.3485C>G | CA414772886 | MT-ND1 | c.179C>G (p.Pro60Arg) | |
| MT | m.3485C>T | CA414772887 | MT-ND1 | c.179C>T (p.Pro60Leu) | |
| MT | m.3486C>A | CA913169423 | MT-ND1 | c.180C>A (p.Pro60=) | |
| MT | m.3486C= | CA2499563454 | MT-ND1 | c.180C= (p.Pro60=) | |
| MT | m.3486C>G | CA913169424 | MT-ND1 | c.180C>G (p.Pro60=) | |
| MT | m.3486C>T | CA337096554 | MT-ND1 | c.180C>T (p.Pro60=) | dbSNP |
| MT | m.3487C>A | CA414772888 | MT-ND1 | c.181C>A (p.Leu61Ile) | |
| MT | m.3487C= | CA2499563455 | MT-ND1 | c.181C= (p.Leu61=) | |
| MT | m.3487C>G | CA414772889 | MT-ND1 | c.181C>G (p.Leu61Val) | |
| MT | m.3487C>T | CA913169427 | MT-ND1 | c.181C>T (p.Leu61=) | dbSNP |
| MT | m.3488del | CA2739234974 | MT-ND1 | c.182del (p.Leu61GlnfsTer17) | dbSNP |
| MT | m.3488T>A | CA414772890 | MT-ND1 | c.182T>A (p.Leu61Gln) | |
| MT | m.3488T>C | CA414772891 | MT-ND1 | c.182T>C (p.Leu61Pro) | ClinVar dbSNP |
| MT | m.3488T>G | CA414772892 | MT-ND1 | c.182T>G (p.Leu61Arg) | |
| MT | m.3488T= | CA2499563456 | MT-ND1 | c.182T= (p.Leu61=) | |
| MT | m.3488_3492del | CA2573104441 | MT-ND1 | c.182_186del (p.Leu61ProfsTer?) | |
| MT | m.3489A= | CA2573327691 | MT-ND1 | c.183A= (p.Leu61=) | |
| MT | m.3489A>C | CA913169428 | MT-ND1 | c.183A>C (p.Leu61=) | |
| MT | m.3489A>G | CA913169429 | MT-ND1 | c.183A>G (p.Leu61=) | |
| MT | m.3489A>T | CA913169430 | MT-ND1 | c.183A>T (p.Leu61=) | |
| MT | m.3492del | CA2573104442 | MT-ND1 | c.186del (p.Lys62AsnfsTer16) | |
| MT | m.3490A= | CA2573327695 | MT-ND1 | c.184A= (p.Lys62=) | |
| MT | m.3490A>C | CA414772895 | MT-ND1 | c.184A>C (p.Lys62Gln) | |
| MT | m.3490A>G | CA414772894 | MT-ND1 | c.184A>G (p.Lys62Glu) | |
| MT | m.3490A>T | CA414772893 | MT-ND1 | c.184A>T (p.Lys62Ter) | |
| MT | m.3491A= | CA2573327697 | MT-ND1 | c.185A= (p.Lys62=) | |
| MT | m.3491A>C | CA414772896 | MT-ND1 | c.185A>C (p.Lys62Thr) | |
| MT | m.3491A>G | CA414772897 | MT-ND1 | c.185A>G (p.Lys62Arg) | |
| MT | m.3491A>T | CA414772898 | MT-ND1 | c.185A>T (p.Lys62Ile) | |
| MT | m.3492A= | CA2499563457 | MT-ND1 | c.186A= (p.Lys62=) | |
| MT | m.3492A>C | CA337096556 | MT-ND1 | c.186A>C (p.Lys62Asn) | ClinVar dbSNP |
| MT | m.3492A>G | CA913169432 | MT-ND1 | c.186A>G (p.Lys62=) | dbSNP |
| MT | m.3492A>T | CA414772899 | MT-ND1 | c.186A>T (p.Lys62Asn) | |
| MT | m.3493C>A | CA414772900 | MT-ND1 | c.187C>A (p.Pro63Thr) | |
| MT | m.3493C= | CA2573327707 | MT-ND1 | c.187C= (p.Pro63=) | |
| MT | m.3493C>G | CA414772901 | MT-ND1 | c.187C>G (p.Pro63Ala) | |
| MT | m.3493C>T | CA414772902 | MT-ND1 | c.187C>T (p.Pro63Ser) | |
| MT | m.3495dup | CA2573104443 | MT-ND1 | c.189dup (p.Ala64ArgfsTer?) | |
| MT | m.3494C>A | CA414772903 | MT-ND1 | c.188C>A (p.Pro63His) | |
| MT | m.3494C= | CA2573327708 | MT-ND1 | c.188C= (p.Pro63=) | |
| MT | m.3494C>G | CA414772904 | MT-ND1 | c.188C>G (p.Pro63Arg) | |
| MT | m.3494C>T | CA414772905 | MT-ND1 | c.188C>T (p.Pro63Leu) | |
| MT | m.3495C>A | CA913169433 | MT-ND1 | c.189C>A (p.Pro63=) | dbSNP |
| MT | m.3495C= | CA2499563458 | MT-ND1 | c.189C= (p.Pro63=) | |
| MT | m.3495C>G | CA913169435 | MT-ND1 | c.189C>G (p.Pro63=) | |
| MT | m.3495C>T | CA913169436 | MT-ND1 | c.189C>T (p.Pro63=) | dbSNP |
| MT | m.3496G>A | CA414772907 | MT-ND1 | c.190G>A (p.Ala64Thr) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.3496G>C | CA414772908 | MT-ND1 | c.190G>C (p.Ala64Pro) | |
| MT | m.3496G= | CA2499563459 | MT-ND1 | c.190G= (p.Ala64=) | |
| MT | m.3496G>T | CA414772906 | MT-ND1 | c.190G>T (p.Ala64Ser) | dbSNP |
| MT | m.3497C>A | CA414772909 | MT-ND1 | c.191C>A (p.Ala64Asp) | |
| MT | m.3497C= | CA2499563460 | MT-ND1 | c.191C= (p.Ala64=) | |
| MT | m.3497C>G | CA414772910 | MT-ND1 | c.191C>G (p.Ala64Gly) | |
| MT | m.3497C>T | CA337096558 | MT-ND1 | c.191C>T (p.Ala64Val) | ClinVar dbSNP |
| MT | m.3498C>A | CA913169440 | MT-ND1 | c.192C>A (p.Ala64=) | |
| MT | m.3498C= | CA2499563461 | MT-ND1 | c.192C= (p.Ala64=) | |
| MT | m.3498C>G | CA913169438 | MT-ND1 | c.192C>G (p.Ala64=) | dbSNP |
| MT | m.3498C>T | CA16603335 | MT-ND1 | c.192C>T (p.Ala64=) | ClinVar dbSNP |
| MT | m.3499A= | CA2573327724 | MT-ND1 | c.193A= (p.Thr65=) | |
| MT | m.3499A>C | CA414772913 | MT-ND1 | c.193A>C (p.Thr65Pro) | |
| MT | m.3499A>G | CA414772912 | MT-ND1 | c.193A>G (p.Thr65Ala) | |
| MT | m.3499A>T | CA414772911 | MT-ND1 | c.193A>T (p.Thr65Ser) | |
| MT | m.3500C>A | CA414772914 | MT-ND1 | c.194C>A (p.Thr65Lys) | |
| MT | m.3500C= | CA2573327726 | MT-ND1 | c.194C= (p.Thr65=) | |
| MT | m.3500C>G | CA414772915 | MT-ND1 | c.194C>G (p.Thr65Arg) | |
| MT | m.3500C>T | CA414772916 | MT-ND1 | c.194C>T (p.Thr65Ile) | |
| 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 |