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.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) | |
| MT | m.3602A= | CA2573328034 | MT-ND1 | c.296A= (p.Asn99=) | |
| MT | m.3602A>C | CA414773123 | MT-ND1 | c.296A>C (p.Asn99Thr) | |
| MT | m.3602A>G | CA414773124 | MT-ND1 | c.296A>G (p.Asn99Ser) | dbSNP |
| MT | m.3602A>T | CA414773125 | MT-ND1 | c.296A>T (p.Asn99Ile) | |
| MT | m.3603C>A | CA414773126 | MT-ND1 | c.297C>A (p.Asn99Lys) | |
| MT | m.3603C= | CA2499563516 | MT-ND1 | c.297C= (p.Asn99=) | |
| MT | m.3603C>G | CA414773127 | MT-ND1 | c.297C>G (p.Asn99Lys) | |
| MT | m.3603C>T | CA913169812 | MT-ND1 | c.297C>T (p.Asn99=) | dbSNP |
| MT | m.3604C>A | CA414773128 | MT-ND1 | c.298C>A (p.Leu100Ile) | dbSNP |
| MT | m.3604C= | CA2499563517 | MT-ND1 | c.298C= (p.Leu100=) | |
| MT | m.3604C>G | CA337096606 | MT-ND1 | c.298C>G (p.Leu100Val) | dbSNP |
| MT | m.3604C>T | CA913169816 | MT-ND1 | c.298C>T (p.Leu100=) | |
| MT | m.3605T>A | CA414773131 | MT-ND1 | c.299T>A (p.Leu100Gln) | |
| MT | m.3605T>C | CA414773130 | MT-ND1 | c.299T>C (p.Leu100Pro) | |
| MT | m.3605T>G | CA414773129 | MT-ND1 | c.299T>G (p.Leu100Arg) | |
| MT | m.3605T= | CA2573328043 | MT-ND1 | c.299T= (p.Leu100=) | |
| MT | m.3606A= | CA2499563518 | MT-ND1 | c.300A= (p.Leu100=) | |
| MT | m.3606A>C | CA913169820 | MT-ND1 | c.300A>C (p.Leu100=) | |
| MT | m.3606A>G | CA337096608 | MT-ND1 | c.300A>G (p.Leu100=) | dbSNP |
| MT | m.3606A>T | CA913169818 | MT-ND1 | c.300A>T (p.Leu100=) | |
| MT | m.3607G>A | CA414773132 | MT-ND1 | c.301G>A (p.Gly101Ser) | ClinVar dbSNP |
| MT | m.3607G>C | CA414773133 | MT-ND1 | c.301G>C (p.Gly101Arg) | |
| MT | m.3607G= | CA2499563519 | MT-ND1 | c.301G= (p.Gly101=) | |
| MT | m.3607G>T | CA414773134 | MT-ND1 | c.301G>T (p.Gly101Cys) | |
| MT | m.3608G>A | CA414773135 | MT-ND1 | c.302G>A (p.Gly101Asp) | |
| MT | m.3608G>C | CA414773136 | MT-ND1 | c.302G>C (p.Gly101Ala) | |
| MT | m.3608G= | CA2573328051 | MT-ND1 | c.302G= (p.Gly101=) | |
| MT | m.3608G>T | CA414773137 | MT-ND1 | c.302G>T (p.Gly101Val) | |
| MT | m.3609C>A | CA913169828 | MT-ND1 | c.303C>A (p.Gly101=) | |
| MT | m.3609C= | CA2499563520 | MT-ND1 | c.303C= (p.Gly101=) | |
| MT | m.3609C>G | CA913169825 | MT-ND1 | c.303C>G (p.Gly101=) | |
| MT | m.3609C>T | CA645608451 | MT-ND1 | c.303C>T (p.Gly101=) | dbSNP COSMIC COSMIC |
| MT | m.3610C>A | CA414773138 | MT-ND1 | c.304C>A (p.Leu102Ile) | |
| MT | m.3610C= | CA2573328056 | MT-ND1 | c.304C= (p.Leu102=) | |
| MT | m.3610C>G | CA414773139 | MT-ND1 | c.304C>G (p.Leu102Val) | |
| MT | m.3610C>T | CA414773140 | MT-ND1 | c.304C>T (p.Leu102Phe) | |
| MT | m.3611T>A | CA414773141 | MT-ND1 | c.305T>A (p.Leu102His) | |
| MT | m.3611T>C | CA414773142 | MT-ND1 | c.305T>C (p.Leu102Pro) | |
| MT | m.3611T>G | CA414773143 | MT-ND1 | c.305T>G (p.Leu102Arg) | |
| MT | m.3611T= | CA2573328060 | MT-ND1 | c.305T= (p.Leu102=) | |
| MT | m.3612C>A | CA913169830 | MT-ND1 | c.306C>A (p.Leu102=) | |
| MT | m.3612C= | CA2499563521 | MT-ND1 | c.306C= (p.Leu102=) | |
| MT | m.3612C>G | CA913169837 | MT-ND1 | c.306C>G (p.Leu102=) | |
| MT | m.3612C>T | CA913169839 | MT-ND1 | c.306C>T (p.Leu102=) | dbSNP |
| MT | m.3613C>A | CA414773144 | MT-ND1 | c.307C>A (p.Leu103Ile) | |
| MT | m.3613C= | CA2499563522 | MT-ND1 | c.307C= (p.Leu103=) | |
| MT | m.3613C>G | CA337096610 | MT-ND1 | c.307C>G (p.Leu103Val) | dbSNP |
| MT | m.3613C>T | CA913169840 | MT-ND1 | c.307C>T (p.Leu103=) | dbSNP |
| MT | m.3614T>A | CA414773145 | MT-ND1 | c.308T>A (p.Leu103Gln) | |
| MT | m.3614T>C | CA414773146 | MT-ND1 | c.308T>C (p.Leu103Pro) | |
| MT | m.3614T>G | CA414773147 | MT-ND1 | c.308T>G (p.Leu103Arg) | |
| MT | m.3614T= | CA2573328065 | MT-ND1 | c.308T= (p.Leu103=) | |
| MT | m.3615A= | CA2573328068 | MT-ND1 | c.309A= (p.Leu103=) | |
| MT | m.3615A>C | CA913169851 | MT-ND1 | c.309A>C (p.Leu103=) | |
| MT | m.3615A>G | CA913169852 | MT-ND1 | c.309A>G (p.Leu103=) | dbSNP |
| MT | m.3615A>T | CA913169853 | MT-ND1 | c.309A>T (p.Leu103=) | |
| MT | m.3616T>A | CA414773148 | MT-ND1 | c.310T>A (p.Phe104Ile) | |
| MT | m.3616T>C | CA414773149 | MT-ND1 | c.310T>C (p.Phe104Leu) | |
| MT | m.3616T>G | CA414773150 | MT-ND1 | c.310T>G (p.Phe104Val) | |
| MT | m.3616T= | CA2573328071 | MT-ND1 | c.310T= (p.Phe104=) | |
| MT | m.3617T>A | CA414773153 | MT-ND1 | c.311T>A (p.Phe104Tyr) | |
| MT | m.3617T>C | CA414773151 | MT-ND1 | c.311T>C (p.Phe104Ser) | |
| MT | m.3617T>G | CA414773152 | MT-ND1 | c.311T>G (p.Phe104Cys) | |
| MT | m.3617T= | CA2573328075 | MT-ND1 | c.311T= (p.Phe104=) | |
| MT | m.3618T>A | CA414773154 | MT-ND1 | c.312T>A (p.Phe104Leu) | |
| MT | m.3618T>C | CA913169865 | MT-ND1 | c.312T>C (p.Phe104=) | dbSNP |
| MT | m.3618T>G | CA414773155 | MT-ND1 | c.312T>G (p.Phe104Leu) | |
| MT | m.3618T= | CA2499563523 | MT-ND1 | c.312T= (p.Phe104=) | |
| MT | m.3619A= | CA2573328079 | MT-ND1 | c.313A= (p.Ile105=) | |
| MT | m.3619A>C | CA414773156 | MT-ND1 | c.313A>C (p.Ile105Leu) | |
| MT | m.3619A>G | CA414773157 | MT-ND1 | c.313A>G (p.Ile105Val) | |
| MT | m.3619A>T | CA414773158 | MT-ND1 | c.313A>T (p.Ile105Phe) | |
| MT | m.3620T>A | CA414773159 | MT-ND1 | c.314T>A (p.Ile105Asn) | |
| MT | m.3620T>C | CA414773161 | MT-ND1 | c.314T>C (p.Ile105Thr) | |
| MT | m.3620T>G | CA414773160 | MT-ND1 | c.314T>G (p.Ile105Ser) | |
| MT | m.3620T= | CA2573328085 | MT-ND1 | c.314T= (p.Ile105=) | |
| MT | m.3621T>A | CA913169870 | MT-ND1 | c.315T>A (p.Ile105=) | |
| MT | m.3621T>C | CA337096612 | MT-ND1 | c.315T>C (p.Ile105=) | dbSNP |
| MT | m.3621T>G | CA414773162 | MT-ND1 | c.315T>G (p.Ile105Met) | |
| MT | m.3621T= | CA2499563524 | MT-ND1 | c.315T= (p.Ile105=) | |
| MT | m.3628_3637del | CA2573104450 | MT-ND1 | c.322_331del (p.Thr108Ter) | |
| MT | m.3622C>A | CA414773163 | MT-ND1 | c.316C>A (p.Leu106Ile) | ClinVar dbSNP |
| MT | m.3622C= | CA2499563525 | MT-ND1 | c.316C= (p.Leu106=) | |
| MT | m.3622C>G | CA414773164 | MT-ND1 | c.316C>G (p.Leu106Val) | |
| MT | m.3622C>T | CA913169876 | MT-ND1 | c.316C>T (p.Leu106=) | |
| MT | m.3623T>A | CA414773165 | MT-ND1 | c.317T>A (p.Leu106Gln) | |
| MT | m.3623T>C | CA414773166 | MT-ND1 | c.317T>C (p.Leu106Pro) | |
| MT | m.3623T>G | CA414773167 | MT-ND1 | c.317T>G (p.Leu106Arg) | |
| MT | m.3623T= | CA2573328096 | MT-ND1 | c.317T= (p.Leu106=) | |
| MT | m.3624A= | CA2499563526 | MT-ND1 | c.318A= (p.Leu106=) | |
| MT | m.3624A>C | CA913169883 | MT-ND1 | c.318A>C (p.Leu106=) | |
| MT | m.3624A>G | CA16040646 | MT-ND1 | c.318A>G (p.Leu106=) | ClinVar dbSNP |
| MT | m.3624A>T | CA913169882 | MT-ND1 | c.318A>T (p.Leu106=) | |
| MT | m.3625G>A | CA414773168 | MT-ND1 | c.319G>A (p.Ala107Thr) | |
| MT | m.3625G>C | CA414773169 | MT-ND1 | c.319G>C (p.Ala107Pro) | |
| MT | m.3625G= | CA2573328097 | MT-ND1 | c.319G= (p.Ala107=) | |
| MT | m.3625G>T | CA414773170 | MT-ND1 | c.319G>T (p.Ala107Ser) | |
| MT | m.3626C>A | CA414773173 | MT-ND1 | c.320C>A (p.Ala107Asp) | |
| MT | m.3626C= | CA2573328100 | MT-ND1 | c.320C= (p.Ala107=) | |
| MT | m.3626C>G | CA414773171 | MT-ND1 | c.320C>G (p.Ala107Gly) | |
| MT | m.3626C>T | CA414773172 | MT-ND1 | c.320C>T (p.Ala107Val) | |
| MT | m.3627C>A | CA913169916 | MT-ND1 | c.321C>A (p.Ala107=) | |
| MT | m.3627C= | CA2573328101 | MT-ND1 | c.321C= (p.Ala107=) | |
| MT | m.3627C>G | CA913169912 | MT-ND1 | c.321C>G (p.Ala107=) | |
| MT | m.3627C>T | CA913169910 | MT-ND1 | c.321C>T (p.Ala107=) | |
| MT | m.3628A= | CA2499563527 | MT-ND1 | c.322A= (p.Thr108=) | |
| MT | m.3628A>C | CA414773174 | MT-ND1 | c.322A>C (p.Thr108Pro) | |
| MT | m.3628A>G | CA414773175 | MT-ND1 | c.322A>G (p.Thr108Ala) | dbSNP |
| MT | m.3628A>T | CA414773176 | MT-ND1 | c.322A>T (p.Thr108Ser) | ClinVar dbSNP |
| MT | m.3629C>A | CA414773177 | MT-ND1 | c.323C>A (p.Thr108Asn) | |
| MT | m.3629C= | CA2573328109 | MT-ND1 | c.323C= (p.Thr108=) | |
| MT | m.3629C>G | CA414773178 | MT-ND1 | c.323C>G (p.Thr108Ser) | |
| MT | m.3629C>T | CA414773179 | MT-ND1 | c.323C>T (p.Thr108Ile) | |
| MT | m.3630C>A | CA913169923 | MT-ND1 | c.324C>A (p.Thr108=) | |
| MT | m.3630C= | CA2499563528 | MT-ND1 | c.324C= (p.Thr108=) | |
| MT | m.3630C>G | CA913169922 | MT-ND1 | c.324C>G (p.Thr108=) | |
| MT | m.3630C>T | CA913169924 | MT-ND1 | c.324C>T (p.Thr108=) | dbSNP |
| MT | m.3631T>A | CA414773180 | MT-ND1 | c.325T>A (p.Ser109Thr) | |
| MT | m.3631T>C | CA414773181 | MT-ND1 | c.325T>C (p.Ser109Pro) | dbSNP |
| MT | m.3631T>G | CA414773182 | MT-ND1 | c.325T>G (p.Ser109Ala) | |
| MT | m.3631T= | CA2499563529 | MT-ND1 | c.325T= (p.Ser109=) | |
| MT | m.3632C>A | CA414773183 | MT-ND1 | c.326C>A (p.Ser109Tyr) | |
| MT | m.3632C= | CA2573328112 | MT-ND1 | c.326C= (p.Ser109=) | |
| MT | m.3632C>G | CA414773184 | MT-ND1 | c.326C>G (p.Ser109Cys) | |
| MT | m.3632C>T | CA414773185 | MT-ND1 | c.326C>T (p.Ser109Phe) | |
| MT | m.3633T>A | CA913169928 | MT-ND1 | c.327T>A (p.Ser109=) | |
| MT | m.3633T>C | CA913169927 | MT-ND1 | c.327T>C (p.Ser109=) | dbSNP |
| MT | m.3633T>G | CA913169926 | MT-ND1 | c.327T>G (p.Ser109=) | |
| MT | m.3633T= | CA2499563530 | MT-ND1 | c.327T= (p.Ser109=) | |
| MT | m.3634A= | CA2499563531 | MT-ND1 | c.328A= (p.Ser110=) | |
| MT | m.3634A>C | CA414773187 | MT-ND1 | c.328A>C (p.Ser110Arg) | |
| MT | m.3634A>G | CA337096615 | MT-ND1 | c.328A>G (p.Ser110Gly) | dbSNP |
| MT | m.3634A>T | CA414773186 | MT-ND1 | c.328A>T (p.Ser110Cys) | |
| MT | m.3635G>A | CA344827 | MT-ND1 | c.329G>A (p.Ser110Asn) | ClinVar dbSNP |
| MT | m.3635G>C | CA414773188 | MT-ND1 | c.329G>C (p.Ser110Thr) | |
| MT | m.3635G= | CA2499563532 | MT-ND1 | c.329G= (p.Ser110=) | |
| MT | m.3635G>T | CA414773189 | MT-ND1 | c.329G>T (p.Ser110Ile) | |
| MT | m.3636C>A | CA414773190 | MT-ND1 | c.330C>A (p.Ser110Arg) | |
| MT | m.3636C= | CA2499563533 | MT-ND1 | c.330C= (p.Ser110=) | |
| MT | m.3636C>G | CA414773191 | MT-ND1 | c.330C>G (p.Ser110Arg) | |
| MT | m.3636C>T | CA913169941 | MT-ND1 | c.330C>T (p.Ser110=) | dbSNP |
| MT | m.3637C>A | CA414773192 | MT-ND1 | c.331C>A (p.Leu111Ile) | |
| MT | m.3637C= | CA2499563534 | MT-ND1 | c.331C= (p.Leu111=) | |
| MT | m.3637C>G | CA414773193 | MT-ND1 | c.331C>G (p.Leu111Val) | |
| MT | m.3637C>T | CA337096618 | MT-ND1 | c.331C>T (p.Leu111=) | dbSNP |
| MT | m.3638T>A | CA414773194 | MT-ND1 | c.332T>A (p.Leu111Gln) | |
| MT | m.3638T>C | CA414773195 | MT-ND1 | c.332T>C (p.Leu111Pro) | |
| MT | m.3638T>G | CA414773196 | MT-ND1 | c.332T>G (p.Leu111Arg) | |
| MT | m.3638T= | CA2573328127 | MT-ND1 | c.332T= (p.Leu111=) | |
| MT | m.3639A= | CA2499563535 | MT-ND1 | c.333A= (p.Leu111=) | |
| MT | m.3639A>C | CA913169948 | MT-ND1 | c.333A>C (p.Leu111=) | |
| MT | m.3639A>G | CA913169949 | MT-ND1 | c.333A>G (p.Leu111=) | dbSNP |
| MT | m.3639A>T | CA913169947 | MT-ND1 | c.333A>T (p.Leu111=) | |
| MT | m.3640G>A | CA414773197 | MT-ND1 | c.334G>A (p.Ala112Thr) | ClinVar dbSNP |
| MT | m.3640G>C | CA414773199 | MT-ND1 | c.334G>C (p.Ala112Pro) | |
| MT | m.3640G= | CA2499563536 | MT-ND1 | c.334G= (p.Ala112=) | |
| MT | m.3640G>T | CA414773198 | MT-ND1 | c.334G>T (p.Ala112Ser) | |
| MT | m.3641C>A | CA414773200 | MT-ND1 | c.335C>A (p.Ala112Asp) | |
| MT | m.3641C= | CA2573328142 | MT-ND1 | c.335C= (p.Ala112=) | |
| MT | m.3641C>G | CA414773201 | MT-ND1 | c.335C>G (p.Ala112Gly) | |
| MT | m.3641C>T | CA414773202 | MT-ND1 | c.335C>T (p.Ala112Val) | |
| MT | m.3642C>A | CA913169966 | MT-ND1 | c.336C>A (p.Ala112=) | |
| MT | m.3642C= | CA2573328145 | MT-ND1 | c.336C= (p.Ala112=) | |
| MT | m.3642C>G | CA913169967 | MT-ND1 | c.336C>G (p.Ala112=) | |
| MT | m.3642C>T | CA913169968 | MT-ND1 | c.336C>T (p.Ala112=) | |
| MT | m.3643G>A | CA414773203 | MT-ND1 | c.337G>A (p.Val113Ile) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.3643G>C | CA414773204 | MT-ND1 | c.337G>C (p.Val113Leu) | |
| MT | m.3643G= | CA2499563537 | MT-ND1 | c.337G= (p.Val113=) | |
| MT | m.3643G>T | CA414773205 | MT-ND1 | c.337G>T (p.Val113Phe) | |
| MT | m.3644T>A | CA414773206 | MT-ND1 | c.338T>A (p.Val113Asp) | |
| MT | m.3644T>C | CA337096620 | MT-ND1 | c.338T>C (p.Val113Ala) | ClinVar dbSNP |
| MT | m.3644T>G | CA414773207 | MT-ND1 | c.338T>G (p.Val113Gly) | |
| MT | m.3644T= | CA2499563538 | MT-ND1 | c.338T= (p.Val113=) | |
| MT | m.3645T>A | CA913169981 | MT-ND1 | c.339T>A (p.Val113=) | |
| MT | m.3645T>C | CA337096622 | MT-ND1 | c.339T>C (p.Val113=) | dbSNP |
| MT | m.3645T>G | CA913169982 | MT-ND1 | c.339T>G (p.Val113=) | |
| MT | m.3645T= | CA2499563539 | MT-ND1 | c.339T= (p.Val113=) | |
| MT | m.3646T>A | CA414773208 | MT-ND1 | c.340T>A (p.Tyr114Asn) | |
| MT | m.3646T>C | CA337096624 | MT-ND1 | c.340T>C (p.Tyr114His) | dbSNP |
| MT | m.3646T>G | CA414773209 | MT-ND1 | c.340T>G (p.Tyr114Asp) | |
| MT | m.3646T= | CA2499563540 | MT-ND1 | c.340T= (p.Tyr114=) | |
| MT | m.3647A= | CA2573328166 | MT-ND1 | c.341A= (p.Tyr114=) | |
| MT | m.3647A>C | CA414773212 | MT-ND1 | c.341A>C (p.Tyr114Ser) | |
| MT | m.3647A>G | CA414773210 | MT-ND1 | c.341A>G (p.Tyr114Cys) | |
| MT | m.3647A>T | CA414773211 | MT-ND1 | c.341A>T (p.Tyr114Phe) | |
| MT | m.3648C>A | CA414773213 | MT-ND1 | c.342C>A (p.Tyr114Ter) | |
| MT | m.3648C= | CA2499563541 | MT-ND1 | c.342C= (p.Tyr114=) | |
| MT | m.3648C>G | CA414773214 | MT-ND1 | c.342C>G (p.Tyr114Ter) | |
| MT | m.3648C>T | CA913169987 | MT-ND1 | c.342C>T (p.Tyr114=) | dbSNP |
| MT | m.3649T>A | CA414773215 | MT-ND1 | c.343T>A (p.Ser115Thr) | |
| MT | m.3649T>C | CA414773216 | MT-ND1 | c.343T>C (p.Ser115Pro) | |
| MT | m.3649T>G | CA414773217 | MT-ND1 | c.343T>G (p.Ser115Ala) | |
| MT | m.3649T= | CA2573328174 | MT-ND1 | c.343T= (p.Ser115=) | |
| MT | m.3650C>A | CA414773218 | MT-ND1 | c.344C>A (p.Ser115Ter) | |
| MT | m.3650C= | CA2573328176 | MT-ND1 | c.344C= (p.Ser115=) | |
| MT | m.3650C>G | CA414773219 | MT-ND1 | c.344C>G (p.Ser115Ter) | |
| MT | m.3650C>T | CA414773220 | MT-ND1 | c.344C>T (p.Ser115Leu) | |
| MT | m.3651A= | CA2573328181 | MT-ND1 | c.345A= (p.Ser115=) | |
| MT | m.3651A>C | CA913170008 | MT-ND1 | c.345A>C (p.Ser115=) | |
| MT | m.3651A>G | CA913170003 | MT-ND1 | c.345A>G (p.Ser115=) | |
| MT | m.3651A>T | CA913170001 | MT-ND1 | c.345A>T (p.Ser115=) | |
| MT | m.3652A= | CA2499563542 | MT-ND1 | c.346A= (p.Ile116=) | |
| MT | m.3652A>C | CA414773221 | MT-ND1 | c.346A>C (p.Ile116Leu) | |
| MT | m.3652A>G | CA414773222 | MT-ND1 | c.346A>G (p.Ile116Val) | ClinVar dbSNP |
| MT | m.3652A>T | CA414773223 | MT-ND1 | c.346A>T (p.Ile116Phe) | |
| MT | m.3653T>A | CA414773224 | MT-ND1 | c.347T>A (p.Ile116Asn) | |
| MT | m.3653T>C | CA414773226 | MT-ND1 | c.347T>C (p.Ile116Thr) | ClinVar dbSNP |
| MT | m.3653T>G | CA414773225 | MT-ND1 | c.347T>G (p.Ile116Ser) | |
| MT | m.3653T= | CA2499563543 | MT-ND1 | c.347T= (p.Ile116=) | |
| MT | m.3654C>A | CA913170018 | MT-ND1 | c.348C>A (p.Ile116=) | |
| MT | m.3654C= | CA2499563544 | MT-ND1 | c.348C= (p.Ile116=) | |
| MT | m.3654C>G | CA414773227 | MT-ND1 | c.348C>G (p.Ile116Met) | |
| MT | m.3654C>T | CA913170019 | MT-ND1 | c.348C>T (p.Ile116=) | dbSNP |
| MT | m.3655C>A | CA414773228 | MT-ND1 | c.349C>A (p.Leu117Ile) | |
| MT | m.3655C= | CA2573328191 | MT-ND1 | c.349C= (p.Leu117=) | |
| MT | m.3655C>G | CA414773229 | MT-ND1 | c.349C>G (p.Leu117Val) | |
| MT | m.3655C>T | CA414773230 | MT-ND1 | c.349C>T (p.Leu117Phe) | |
| MT | m.3656T>A | CA414773231 | MT-ND1 | c.350T>A (p.Leu117His) | |
| MT | m.3656T>C | CA414773232 | MT-ND1 | c.350T>C (p.Leu117Pro) | |
| MT | m.3656T>G | CA414773233 | MT-ND1 | c.350T>G (p.Leu117Arg) | |
| MT | m.3656T= | CA2573328194 | MT-ND1 | c.350T= (p.Leu117=) | |
| MT | m.3657C>A | CA913170024 | MT-ND1 | c.351C>A (p.Leu117=) | |
| MT | m.3657C= | CA2573328197 | MT-ND1 | c.351C= (p.Leu117=) | |
| MT | m.3657C>G | CA913170027 | MT-ND1 | c.351C>G (p.Leu117=) | |
| MT | m.3657C>T | CA913170025 | MT-ND1 | c.351C>T (p.Leu117=) | |
| MT | m.3658T>A | CA414773234 | MT-ND1 | c.352T>A (p.Ter118Arg) | |
| MT | m.3658T>C | CA414773235 | MT-ND1 | c.352T>C (p.Ter118Arg) | |
| MT | m.3658T>G | CA414773236 | MT-ND1 | c.352T>G (p.Ter118Gly) | |
| MT | m.3658T= | CA414773237 | MT-ND1 | c.352T= (p.Ter118=) | |
| MT | m.3659G>A | CA414773241 | MT-ND1 | c.353G>A (p.Ter118=) | |
| MT | m.3659G>C | CA414773238 | MT-ND1 | c.353G>C (p.Ter118Ser) | |
| MT | m.3659G= | CA414773240 | MT-ND1 | c.353G= (p.Ter118=) | |
| MT | m.3659G>T | CA414773239 | MT-ND1 | c.353G>T (p.Ter118Leu) | |
| MT | m.3660A= | CA414773242 | MT-ND1 | c.354A= (p.Ter118=) | |
| MT | m.3660A>C | CA414773243 | MT-ND1 | c.354A>C (p.Ter118Cys) | |
| MT | m.3660A>G | CA414773244 | MT-ND1 | c.354A>G (p.Ter118Trp) | |
| MT | m.3660A>T | CA414773245 | MT-ND1 | c.354A>T (p.Ter118Cys) | |
| MT | m.3661T>A | CA414773246 | MT-ND1 | c.355T>A (p.Ser119Thr) | |
| MT | m.3661T>C | CA414773247 | MT-ND1 | c.355T>C (p.Ser119Pro) | |
| MT | m.3661T>G | CA414773248 | MT-ND1 | c.355T>G (p.Ser119Ala) | ClinVar dbSNP |
| MT | m.3661T= | CA2499563545 | MT-ND1 | c.355T= (p.Ser119=) | |
| MT | m.3662C>A | CA414773249 | MT-ND1 | c.356C>A (p.Ser119Ter) | |
| MT | m.3662C= | CA2573328215 | MT-ND1 | c.356C= (p.Ser119=) | |
| MT | m.3662C>G | CA414773250 | MT-ND1 | c.356C>G (p.Ser119Ter) | |
| MT | m.3662C>T | CA414773251 | MT-ND1 | c.356C>T (p.Ser119Leu) | |
| MT | m.3663A= | CA2499563546 | MT-ND1 | c.357A= (p.Ser119=) | |
| MT | m.3663A>C | CA913170055 | MT-ND1 | c.357A>C (p.Ser119=) | |
| MT | m.3663A>G | CA913170054 | MT-ND1 | c.357A>G (p.Ser119=) | dbSNP |
| MT | m.3663A>T | CA913170053 | MT-ND1 | c.357A>T (p.Ser119=) | |
| MT | m.3664G>A | CA414773253 | MT-ND1 | c.358G>A (p.Gly120Arg) | |
| MT | m.3664G>C | CA414773254 | MT-ND1 | c.358G>C (p.Gly120Arg) | |
| MT | m.3664G= | CA2573328223 | MT-ND1 | c.358G= (p.Gly120=) | |
| MT | m.3664G>T | CA414773252 | MT-ND1 | c.358G>T (p.Gly120Trp) | |
| MT | m.3665G>A | CA414773256 | MT-ND1 | c.359G>A (p.Gly120Glu) | |
| MT | m.3665G>C | CA414773255 | MT-ND1 | c.359G>C (p.Gly120Ala) | |
| MT | m.3665G= | CA2573328227 | MT-ND1 | c.359G= (p.Gly120=) | |
| MT | m.3665G>T | CA414773257 | MT-ND1 | c.359G>T (p.Gly120Val) | |
| MT | m.3666G>A | CA337096626 | MT-ND1 | c.360G>A (p.Gly120=) | dbSNP |
| MT | m.3666G>C | CA913170062 | MT-ND1 | c.360G>C (p.Gly120=) | dbSNP |
| MT | m.3666G= | CA2499563547 | MT-ND1 | c.360G= (p.Gly120=) | |
| MT | m.3666G>T | CA913170063 | MT-ND1 | c.360G>T (p.Gly120=) | |
| MT | m.3667T>A | CA414773258 | MT-ND1 | c.361T>A (p.Ter121Arg) | |
| MT | m.3667T>C | CA414773259 | MT-ND1 | c.361T>C (p.Ter121Arg) | |
| MT | m.3667T>G | CA414773260 | MT-ND1 | c.361T>G (p.Ter121Gly) | |
| MT | m.3667T= | CA414773261 | MT-ND1 | c.361T= (p.Ter121=) | |
| MT | m.3668G>A | CA414773262 | MT-ND1 | c.362G>A (p.Ter121=) | |
| MT | m.3668G>C | CA414773263 | MT-ND1 | c.362G>C (p.Ter121Ser) | |
| MT | m.3668G= | CA414773264 | MT-ND1 | c.362G= (p.Ter121=) | |
| MT | m.3668G>T | CA414773265 | MT-ND1 | c.362G>T (p.Ter121Leu) | |
| MT | m.3669A= | CA414773266 | MT-ND1 | c.363A= (p.Ter121=) | |
| MT | m.3669A>C | CA414773267 | MT-ND1 | c.363A>C (p.Ter121Cys) | |
| MT | m.3669A>G | CA337096628 | MT-ND1 | c.363A>G (p.Ter121Trp) | ClinVar dbSNP |
| MT | m.3669A>T | CA414773268 | MT-ND1 | c.363A>T (p.Ter121Cys) | |
| MT | m.3670G>A | CA414773271 | MT-ND1 | c.364G>A (p.Ala122Thr) | ClinVar dbSNP |
| MT | m.3670G>C | CA414773269 | MT-ND1 | c.364G>C (p.Ala122Pro) | |
| MT | m.3670G= | CA2499563548 | MT-ND1 | c.364G= (p.Ala122=) | |
| MT | m.3670G>T | CA414773270 | MT-ND1 | c.364G>T (p.Ala122Ser) | |
| MT | m.3671C>A | CA414773272 | MT-ND1 | c.365C>A (p.Ala122Glu) | |
| MT | m.3671C= | CA2573328247 | MT-ND1 | c.365C= (p.Ala122=) | |
| MT | m.3671C>G | CA414773273 | MT-ND1 | c.365C>G (p.Ala122Gly) | |
| MT | m.3671C>T | CA414773274 | MT-ND1 | c.365C>T (p.Ala122Val) | |
| MT | m.3672A= | CA2499563549 | MT-ND1 | c.366A= (p.Ala122=) | |
| MT | m.3672A>C | CA913170080 | MT-ND1 | c.366A>C (p.Ala122=) | |
| MT | m.3672A>G | CA913170081 | MT-ND1 | c.366A>G (p.Ala122=) | dbSNP |
| MT | m.3672A>T | CA913170082 | MT-ND1 | c.366A>T (p.Ala122=) | dbSNP |
| MT | m.3673T>A | CA414773275 | MT-ND1 | c.367T>A (p.Ser123Thr) | |
| MT | m.3673T>C | CA414773276 | MT-ND1 | c.367T>C (p.Ser123Pro) | |
| MT | m.3673T>G | CA414773277 | MT-ND1 | c.367T>G (p.Ser123Ala) | |
| MT | m.3673T= | CA2573328252 | MT-ND1 | c.367T= (p.Ser123=) | |
| MT | m.3674C>A | CA414773278 | MT-ND1 | c.368C>A (p.Ser123Ter) | |
| MT | m.3674C= | CA2573328253 | MT-ND1 | c.368C= (p.Ser123=) | |
| MT | m.3674C>G | CA414773279 | MT-ND1 | c.368C>G (p.Ser123Ter) | |
| MT | m.3674C>T | CA414773280 | MT-ND1 | c.368C>T (p.Ser123Leu) | |
| MT | m.3675A= | CA2573328254 | MT-ND1 | c.369A= (p.Ser123=) | |
| MT | m.3675A>C | CA913170086 | MT-ND1 | c.369A>C (p.Ser123=) | |
| MT | m.3675A>G | CA913170087 | MT-ND1 | c.369A>G (p.Ser123=) | |
| MT | m.3675A>T | CA913170088 | MT-ND1 | c.369A>T (p.Ser123=) | |
| MT | m.3676A= | CA2573328257 | MT-ND1 | c.370A= (p.Asn124=) | |
| MT | m.3676A>C | CA414773281 | MT-ND1 | c.370A>C (p.Asn124His) | |
| MT | m.3676A>G | CA414773282 | MT-ND1 | c.370A>G (p.Asn124Asp) | |
| MT | m.3676A>T | CA414773283 | MT-ND1 | c.370A>T (p.Asn124Tyr) | |
| MT | m.3677A= | CA2573328261 | MT-ND1 | c.371A= (p.Asn124=) | |
| MT | m.3677A>C | CA414773286 | MT-ND1 | c.371A>C (p.Asn124Thr) | |
| MT | m.3677A>G | CA414773284 | MT-ND1 | c.371A>G (p.Asn124Ser) | |
| MT | m.3677A>T | CA414773285 | MT-ND1 | c.371A>T (p.Asn124Ile) | |
| MT | m.3678C>A | CA414773287 | MT-ND1 | c.372C>A (p.Asn124Lys) | |
| MT | m.3678C= | CA2573328266 | MT-ND1 | c.372C= (p.Asn124=) | |
| MT | m.3678C>G | CA414773288 | MT-ND1 | c.372C>G (p.Asn124Lys) | |
| MT | m.3678C>T | CA913170106 | MT-ND1 | c.372C>T (p.Asn124=) | |
| MT | m.3679T>A | CA414773289 | MT-ND1 | c.373T>A (p.Ser125Thr) | |
| MT | m.3679T>C | CA414773290 | MT-ND1 | c.373T>C (p.Ser125Pro) | |
| MT | m.3679T>G | CA414773291 | MT-ND1 | c.373T>G (p.Ser125Ala) | |
| MT | m.3679T= | CA2573328270 | MT-ND1 | c.373T= (p.Ser125=) | |
| MT | m.3680C>A | CA414773292 | MT-ND1 | c.374C>A (p.Ser125Ter) | |
| MT | m.3680C= | CA2573328272 | MT-ND1 | c.374C= (p.Ser125=) | |
| MT | m.3680C>G | CA414773293 | MT-ND1 | c.374C>G (p.Ser125Ter) | |
| MT | m.3680C>T | CA414773294 | MT-ND1 | c.374C>T (p.Ser125Leu) | |
| MT | m.3681A= | CA2573328274 | MT-ND1 | c.375A= (p.Ser125=) | |
| MT | m.3681A>C | CA913170113 | MT-ND1 | c.375A>C (p.Ser125=) | |
| MT | m.3681A>G | CA913170114 | MT-ND1 | c.375A>G (p.Ser125=) | |
| MT | m.3681A>T | CA913170116 | MT-ND1 | c.375A>T (p.Ser125=) | |
| MT | m.3682A= | CA2573328276 | MT-ND1 | c.376A= (p.Asn126=) | |
| MT | m.3682A>C | CA414773295 | MT-ND1 | c.376A>C (p.Asn126His) | |
| MT | m.3682A>G | CA414773296 | MT-ND1 | c.376A>G (p.Asn126Asp) | |
| MT | m.3682A>T | CA414773297 | MT-ND1 | c.376A>T (p.Asn126Tyr) | |
| MT | m.3683A= | CA2573328278 | MT-ND1 | c.377A= (p.Asn126=) | |
| MT | m.3683A>C | CA414773298 | MT-ND1 | c.377A>C (p.Asn126Thr) | |
| MT | m.3683A>G | CA414773299 | MT-ND1 | c.377A>G (p.Asn126Ser) | |
| MT | m.3683A>T | CA414773300 | MT-ND1 | c.377A>T (p.Asn126Ile) | |
| MT | m.3684C>A | CA414773301 | MT-ND1 | c.378C>A (p.Asn126Lys) | |
| MT | m.3684C= | CA2499563550 | MT-ND1 | c.378C= (p.Asn126=) | |
| MT | m.3684C>G | CA414773302 | MT-ND1 | c.378C>G (p.Asn126Lys) | |
| MT | m.3684C>T | CA913170146 | MT-ND1 | c.378C>T (p.Asn126=) | dbSNP |
| MT | m.3685T>A | CA414773303 | MT-ND1 | c.379T>A (p.Tyr127Asn) | |
| MT | m.3685T>C | CA414773304 | MT-ND1 | c.379T>C (p.Tyr127His) | ClinVar dbSNP |
| MT | m.3685T>G | CA414773305 | MT-ND1 | c.379T>G (p.Tyr127Asp) | |
| MT | m.3685T= | CA2499563551 | MT-ND1 | c.379T= (p.Tyr127=) | |
| MT | m.3686A= | CA2573328286 | MT-ND1 | c.380A= (p.Tyr127=) | |
| MT | m.3686A>C | CA414773306 | MT-ND1 | c.380A>C (p.Tyr127Ser) | |
| MT | m.3686A>G | CA414773307 | MT-ND1 | c.380A>G (p.Tyr127Cys) | |
| MT | m.3686A>T | CA414773308 | MT-ND1 | c.380A>T (p.Tyr127Phe) | |
| MT | m.3687C>A | CA414773309 | MT-ND1 | c.381C>A (p.Tyr127Ter) | |
| MT | m.3687C= | CA2499563552 | MT-ND1 | c.381C= (p.Tyr127=) | |
| MT | m.3687C>G | CA414773310 | MT-ND1 | c.381C>G (p.Tyr127Ter) | |
| MT | m.3687C>T | CA913170149 | MT-ND1 | c.381C>T (p.Tyr127=) | dbSNP |
| MT | m.3688G>A | CA414773311 | MT-ND1 | c.382G>A (p.Ala128Thr) | COSMIC COSMIC |
| MT | m.3688G>C | CA337096630 | MT-ND1 | c.382G>C (p.Ala128Pro) | dbSNP |
| MT | m.3688G= | CA2499563553 | MT-ND1 | c.382G= (p.Ala128=) | |
| MT | m.3688G>T | CA414773312 | MT-ND1 | c.382G>T (p.Ala128Ser) | |
| MT | m.3689C>A | CA414773313 | MT-ND1 | c.383C>A (p.Ala128Asp) | |
| MT | m.3689C= | CA2573328292 | MT-ND1 | c.383C= (p.Ala128=) | |
| MT | m.3689C>G | CA414773315 | MT-ND1 | c.383C>G (p.Ala128Gly) | |
| MT | m.3689C>T | CA414773314 | MT-ND1 | c.383C>T (p.Ala128Val) | |
| MT | m.3690C>A | CA913170157 | MT-ND1 | c.384C>A (p.Ala128=) | |
| MT | m.3690C= | CA2499563554 | MT-ND1 | c.384C= (p.Ala128=) | |
| MT | m.3690C>G | CA913170158 | MT-ND1 | c.384C>G (p.Ala128=) | |
| MT | m.3690C>T | CA913170159 | MT-ND1 | c.384C>T (p.Ala128=) | dbSNP |
| MT | m.3691C>A | CA414773316 | MT-ND1 | c.385C>A (p.Leu129Met) | |
| MT | m.3691C= | CA2573328297 | MT-ND1 | c.385C= (p.Leu129=) | |
| MT | m.3691C>G | CA414773317 | MT-ND1 | c.385C>G (p.Leu129Val) | |
| MT | m.3691C>T | CA913170160 | MT-ND1 | c.385C>T (p.Leu129=) | |
| MT | m.3692T>A | CA414773318 | MT-ND1 | c.386T>A (p.Leu129Gln) | |
| MT | m.3692T>C | CA414773319 | MT-ND1 | c.386T>C (p.Leu129Pro) | |
| MT | m.3692T>G | CA414773320 | MT-ND1 | c.386T>G (p.Leu129Arg) | |
| MT | m.3692T= | CA2573328302 | MT-ND1 | c.386T= (p.Leu129=) | |
| MT | m.3693G>A | CA337096632 | MT-ND1 | c.387G>A (p.Leu129=) | ClinVar dbSNP |
| MT | m.3693G>C | CA337096634 | MT-ND1 | c.387G>C (p.Leu129=) | dbSNP |
| MT | m.3693G= | CA2499563555 | MT-ND1 | c.387G= (p.Leu129=) | |
| MT | m.3693G>T | CA337096636 | MT-ND1 | c.387G>T (p.Leu129=) | |
| MT | m.3694A= | CA2573328310 | MT-ND1 | c.388A= (p.Ile130=) | |
| MT | m.3694A>C | CA414773321 | MT-ND1 | c.388A>C (p.Ile130Leu) | |
| MT | m.3694A>G | CA414773322 | MT-ND1 | c.388A>G (p.Ile130Val) | |
| MT | m.3694A>T | CA414773323 | MT-ND1 | c.388A>T (p.Ile130Phe) | |
| MT | m.3695T>A | CA414773326 | MT-ND1 | c.389T>A (p.Ile130Asn) | |
| MT | m.3695T>C | CA414773325 | MT-ND1 | c.389T>C (p.Ile130Thr) | |
| MT | m.3695T>G | CA414773324 | MT-ND1 | c.389T>G (p.Ile130Ser) | |
| MT | m.3695T= | CA2573328313 | MT-ND1 | c.389T= (p.Ile130=) | |
| MT | m.3696C>A | CA913170164 | MT-ND1 | c.390C>A (p.Ile130=) | |
| MT | m.3696C= | CA2499563556 | MT-ND1 | c.390C= (p.Ile130=) | |
| MT | m.3696C>G | CA414773327 | MT-ND1 | c.390C>G (p.Ile130Met) | |
| MT | m.3696C>T | CA337096638 | MT-ND1 | c.390C>T (p.Ile130=) | dbSNP |
| MT | m.3697G>A | CA120647 | MT-ND1 | c.391G>A (p.Gly131Ser) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.3697G>C | CA414773328 | MT-ND1 | c.391G>C (p.Gly131Arg) | |
| MT | m.3697G= | CA2499563557 | MT-ND1 | c.391G= (p.Gly131=) | |
| MT | m.3697G>T | CA414773329 | MT-ND1 | c.391G>T (p.Gly131Cys) | |
| MT | m.3698G>A | CA414773330 | MT-ND1 | c.392G>A (p.Gly131Asp) | |
| MT | m.3698G>C | CA414773331 | MT-ND1 | c.392G>C (p.Gly131Ala) | |
| MT | m.3698G= | CA2573328325 | MT-ND1 | c.392G= (p.Gly131=) | |
| MT | m.3698G>T | CA414773332 | MT-ND1 | c.392G>T (p.Gly131Val) | |
| MT | m.3699C>A | CA913170166 | MT-ND1 | c.393C>A (p.Gly131=) | |
| MT | m.3699C= | CA2499563558 | MT-ND1 | c.393C= (p.Gly131=) | |
| MT | m.3699C>G | CA913170167 | MT-ND1 | c.393C>G (p.Gly131=) | dbSNP |
| MT | m.3699C>T | CA913170165 | MT-ND1 | c.393C>T (p.Gly131=) | |
| MT | m.3700G>A | CA344828 | MT-ND1 | c.394G>A (p.Ala132Thr) | ClinVar dbSNP |
| MT | m.3700G>C | CA414773333 | MT-ND1 | c.394G>C (p.Ala132Pro) | |
| MT | m.3700G= | CA2499563559 | MT-ND1 | c.394G= (p.Ala132=) | |
| MT | m.3700G>T | CA414773334 | MT-ND1 | c.394G>T (p.Ala132Ser) | |
| MT | m.3701C>A | CA414773336 | MT-ND1 | c.395C>A (p.Ala132Glu) | |
| MT | m.3701C= | CA2499563560 | MT-ND1 | c.395C= (p.Ala132=) | |
| MT | m.3701C>G | CA414773337 | MT-ND1 | c.395C>G (p.Ala132Gly) | |
| MT | m.3701C>T | CA414773335 | MT-ND1 | c.395C>T (p.Ala132Val) | ClinVar dbSNP |