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.5774_14768del | CA2580610836 | |||
| MT | m.5780_14107del | CA2580610932 | |||
| MT | m.5782_13922del | CA250413 | ClinVar | ||
| MT | m.5788_13923del | CA2580618295 | |||
| MT | m.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7731_11256del | CA645373334 | ClinVar | ||
| MT | m.8290_13040del | CA645373335 | ClinVar | ||
| MT | m.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8587_12967del | CA645373337 | ClinVar | ||
| MT | m.8815_13722del | CA645373338 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.10106_15067del | CA645373340 | ClinVar | ||
| MT | m.10589G>A | CA337098902 | MT-ND4L | c.120G>A (p.Leu40=) | dbSNP |
| MT | m.10589G>C | CA913163950 | MT-ND4L | c.120G>C (p.Leu40=) | |
| MT | m.10589G= | CA2499566814 | MT-ND4L | c.120G= (p.Leu40=) | |
| MT | m.10589G>T | CA913163951 | MT-ND4L | c.120G>T (p.Leu40=) | |
| MT | m.10590T>A | CA414805965 | MT-ND4L | c.121T>A (p.Phe41Ile) | |
| MT | m.10590T>C | CA414805968 | MT-ND4L | c.121T>C (p.Phe41Leu) | |
| MT | m.10590T>G | CA337098903 | MT-ND4L | c.121T>G (p.Phe41Val) | dbSNP |
| MT | m.10590T= | CA2499566816 | MT-ND4L | c.121T= (p.Phe41=) | |
| MT | m.10591T>A | CA414805971 | MT-ND4L | c.122T>A (p.Phe41Tyr) | |
| MT | m.10591T>C | CA414805972 | MT-ND4L | c.122T>C (p.Phe41Ser) | dbSNP |
| MT | m.10591T>G | CA414805974 | MT-ND4L | c.122T>G (p.Phe41Cys) | |
| MT | m.10591T= | CA2499566817 | MT-ND4L | c.122T= (p.Phe41=) | |
| MT | m.10592C>A | CA414805976 | MT-ND4L | c.123C>A (p.Phe41Leu) | |
| MT | m.10592C= | CA2573326398 | MT-ND4L | c.123C= (p.Phe41=) | |
| MT | m.10592C>G | CA414805977 | MT-ND4L | c.123C>G (p.Phe41Leu) | |
| MT | m.10592C>T | CA913163959 | MT-ND4L | c.123C>T (p.Phe41=) | dbSNP |
| MT | m.10593A= | CA2573326400 | MT-ND4L | c.124A= (p.Ile42=) | |
| MT | m.10593A>C | CA414805981 | MT-ND4L | c.124A>C (p.Ile42Leu) | |
| MT | m.10593A>G | CA414805982 | MT-ND4L | c.124A>G (p.Ile42Val) | |
| MT | m.10593A>T | CA414805984 | MT-ND4L | c.124A>T (p.Ile42Phe) | |
| MT | m.10594T>A | CA414805987 | MT-ND4L | c.125T>A (p.Ile42Asn) | |
| MT | m.10594T>C | CA414805989 | MT-ND4L | c.125T>C (p.Ile42Thr) | dbSNP COSMIC |
| MT | m.10594T>G | CA414805991 | MT-ND4L | c.125T>G (p.Ile42Ser) | |
| MT | m.10594T= | CA2499566818 | MT-ND4L | c.125T= (p.Ile42=) | |
| MT | m.10595T>A | CA913163971 | MT-ND4L | c.126T>A (p.Ile42=) | |
| MT | m.10595T>C | CA913163964 | MT-ND4L | c.126T>C (p.Ile42=) | dbSNP |
| MT | m.10595T>G | CA414805993 | MT-ND4L | c.126T>G (p.Ile42Met) | |
| MT | m.10595T= | CA2499566819 | MT-ND4L | c.126T= (p.Ile42=) | |
| MT | m.10596A= | CA2573326406 | MT-ND4L | c.127A= (p.Ile43=) | |
| MT | m.10596A>C | CA414806000 | MT-ND4L | c.127A>C (p.Ile43Leu) | |
| MT | m.10596A>G | CA414805997 | MT-ND4L | c.127A>G (p.Ile43Val) | |
| MT | m.10596A>T | CA414805998 | MT-ND4L | c.127A>T (p.Ile43Leu) | |
| MT | m.10597T>A | CA414806002 | MT-ND4L | c.128T>A (p.Ile43Lys) | |
| MT | m.10597T>C | CA414806005 | MT-ND4L | c.128T>C (p.Ile43Thr) | COSMIC |
| MT | m.10597T>G | CA414806007 | MT-ND4L | c.128T>G (p.Ile43Arg) | |
| MT | m.10597T= | CA2573326410 | MT-ND4L | c.128T= (p.Ile43=) | |
| MT | m.10598A= | CA2499566821 | MT-ND4L | c.129A= (p.Ile43=) | |
| MT | m.10598A>C | CA913163976 | MT-ND4L | c.129A>C (p.Ile43=) | |
| MT | m.10598A>G | CA414806008 | MT-ND4L | c.129A>G (p.Ile43Met) | dbSNP |
| MT | m.10598A>T | CA913163977 | MT-ND4L | c.129A>T (p.Ile43=) | |
| MT | m.10599G>A | CA414806011 | MT-ND4L | c.130G>A (p.Ala44Thr) | ClinVar dbSNP |
| MT | m.10599G>C | CA414806013 | MT-ND4L | c.130G>C (p.Ala44Pro) | |
| MT | m.10599G= | CA2499566822 | MT-ND4L | c.130G= (p.Ala44=) | |
| MT | m.10599G>T | CA414806014 | MT-ND4L | c.130G>T (p.Ala44Ser) | |
| MT | m.10600C>A | CA414806017 | MT-ND4L | c.131C>A (p.Ala44Asp) | |
| MT | m.10600C= | CA2499566824 | MT-ND4L | c.131C= (p.Ala44=) | |
| MT | m.10600C>G | CA414806019 | MT-ND4L | c.131C>G (p.Ala44Gly) | |
| MT | m.10600C>T | CA414806021 | MT-ND4L | c.131C>T (p.Ala44Val) | ClinVar dbSNP |
| MT | m.10601T>A | CA913163981 | MT-ND4L | c.132T>A (p.Ala44=) | dbSNP |
| MT | m.10601T>C | CA337098905 | MT-ND4L | c.132T>C (p.Ala44=) | dbSNP |
| MT | m.10601T>G | CA913163980 | MT-ND4L | c.132T>G (p.Ala44=) | |
| MT | m.10601T= | CA2499566826 | MT-ND4L | c.132T= (p.Ala44=) | |
| MT | m.10602A= | CA2499566828 | MT-ND4L | c.133A= (p.Thr45=) | |
| MT | m.10602A>C | CA414806024 | MT-ND4L | c.133A>C (p.Thr45Pro) | |
| MT | m.10602A>G | CA414806028 | MT-ND4L | c.133A>G (p.Thr45Ala) | ClinVar dbSNP |
| MT | m.10602A>T | CA414806026 | MT-ND4L | c.133A>T (p.Thr45Ser) | |
| MT | m.10603C>A | CA414806031 | MT-ND4L | c.134C>A (p.Thr45Asn) | |
| MT | m.10603C= | CA2513065033 | MT-ND4L | c.134C= (p.Thr45=) | |
| MT | m.10603C>G | CA414806032 | MT-ND4L | c.134C>G (p.Thr45Ser) | |
| MT | m.10603C>T | CA414806034 | MT-ND4L | c.134C>T (p.Thr45Ile) | |
| MT | m.10604T>A | CA913163990 | MT-ND4L | c.135T>A (p.Thr45=) | |
| MT | m.10604T>C | CA913163991 | MT-ND4L | c.135T>C (p.Thr45=) | dbSNP |
| MT | m.10604T>G | CA913163992 | MT-ND4L | c.135T>G (p.Thr45=) | |
| MT | m.10604T= | CA2499566829 | MT-ND4L | c.135T= (p.Thr45=) | |
| MT | m.10605C>A | CA414806036 | MT-ND4L | c.136C>A (p.Leu46Ile) | |
| MT | m.10605C= | CA2573326427 | MT-ND4L | c.136C= (p.Leu46=) | |
| MT | m.10605C>G | CA414806038 | MT-ND4L | c.136C>G (p.Leu46Val) | |
| MT | m.10605C>T | CA414806040 | MT-ND4L | c.136C>T (p.Leu46Phe) | |
| MT | m.10606T>A | CA414806043 | MT-ND4L | c.137T>A (p.Leu46His) | |
| MT | m.10606T>C | CA414806044 | MT-ND4L | c.137T>C (p.Leu46Pro) | |
| MT | m.10606T>G | CA414806045 | MT-ND4L | c.137T>G (p.Leu46Arg) | |
| MT | m.10606T= | CA2513251995 | MT-ND4L | c.137T= (p.Leu46=) | |
| MT | m.10607C>A | CA913164005 | MT-ND4L | c.138C>A (p.Leu46=) | |
| MT | m.10607C= | CA2499566831 | MT-ND4L | c.138C= (p.Leu46=) | |
| MT | m.10607C>G | CA913164003 | MT-ND4L | c.138C>G (p.Leu46=) | |
| MT | m.10607C>T | CA337098906 | MT-ND4L | c.138C>T (p.Leu46=) | dbSNP |
| MT | m.10608A= | CA2573326434 | MT-ND4L | c.139A= (p.Ile47=) | |
| MT | m.10608A>C | CA414806048 | MT-ND4L | c.139A>C (p.Ile47Leu) | |
| MT | m.10608A>G | CA414806052 | MT-ND4L | c.139A>G (p.Ile47Val) | |
| MT | m.10608A>T | CA414806049 | MT-ND4L | c.139A>T (p.Ile47Leu) | |
| MT | m.10609T>A | CA414806054 | MT-ND4L | c.140T>A (p.Ile47Lys) | |
| MT | m.10609T>C | CA337098910 | MT-ND4L | c.140T>C (p.Ile47Thr) | ClinVar dbSNP |
| MT | m.10609T>G | CA414806057 | MT-ND4L | c.140T>G (p.Ile47Arg) | |
| MT | m.10609T= | CA2499566833 | MT-ND4L | c.140T= (p.Ile47=) | |
| MT | m.10610A= | CA2499566835 | MT-ND4L | c.141A= (p.Ile47=) | |
| MT | m.10610A>C | CA913164006 | MT-ND4L | c.141A>C (p.Ile47=) | |
| MT | m.10610A>G | CA414806059 | MT-ND4L | c.141A>G (p.Ile47Met) | dbSNP |
| MT | m.10610A>T | CA913164008 | MT-ND4L | c.141A>T (p.Ile47=) | |
| MT | m.10611del | CA2573105064 | MT-ND4L | c.142del (p.Thr48ProfsTer8) | |
| MT | m.10611A= | CA2499566836 | MT-ND4L | c.142A= (p.Thr48=) | |
| MT | m.10611A>C | CA337098912 | MT-ND4L | c.142A>C (p.Thr48Pro) | |
| MT | m.10611A>G | CA414806063 | MT-ND4L | c.142A>G (p.Thr48Ala) | dbSNP |
| MT | m.10611A>T | CA337098916 | MT-ND4L | c.142A>T (p.Thr48Ser) | |
| MT | m.10612C>A | CA414806067 | MT-ND4L | c.143C>A (p.Thr48Asn) | |
| MT | m.10612C= | CA2573326441 | MT-ND4L | c.143C= (p.Thr48=) | |
| MT | m.10612C>G | CA414806069 | MT-ND4L | c.143C>G (p.Thr48Ser) | |
| MT | m.10612C>T | CA414806070 | MT-ND4L | c.143C>T (p.Thr48Ile) | |
| MT | m.10613C>A | CA913164026 | MT-ND4L | c.144C>A (p.Thr48=) | |
| MT | m.10613C= | CA2573326443 | MT-ND4L | c.144C= (p.Thr48=) | |
| MT | m.10613C>G | CA913164025 | MT-ND4L | c.144C>G (p.Thr48=) | |
| MT | m.10613C>T | CA913164023 | MT-ND4L | c.144C>T (p.Thr48=) | |
| MT | m.10614C>A | CA414806073 | MT-ND4L | c.145C>A (p.Leu49Ile) | |
| MT | m.10614C= | CA2573326446 | MT-ND4L | c.145C= (p.Leu49=) | |
| MT | m.10614C>G | CA414806074 | MT-ND4L | c.145C>G (p.Leu49Val) | |
| MT | m.10614C>T | CA414806076 | MT-ND4L | c.145C>T (p.Leu49Phe) | |
| MT | m.10615T>A | CA414806082 | MT-ND4L | c.146T>A (p.Leu49His) | |
| MT | m.10615T>C | CA414806078 | MT-ND4L | c.146T>C (p.Leu49Pro) | |
| MT | m.10615T>G | CA414806080 | MT-ND4L | c.146T>G (p.Leu49Arg) | |
| MT | m.10615T= | CA2573326448 | MT-ND4L | c.146T= (p.Leu49=) | |
| MT | m.10616C>A | CA913164032 | MT-ND4L | c.147C>A (p.Leu49=) | |
| MT | m.10616C= | CA2573326450 | MT-ND4L | c.147C= (p.Leu49=) | |
| MT | m.10616C>G | CA913164035 | MT-ND4L | c.147C>G (p.Leu49=) | |
| MT | m.10616C>T | CA913164033 | MT-ND4L | c.147C>T (p.Leu49=) | |
| MT | m.10617A= | CA2573326452 | MT-ND4L | c.148A= (p.Asn50=) | |
| MT | m.10617A>C | CA414806084 | MT-ND4L | c.148A>C (p.Asn50His) | |
| MT | m.10617A>G | CA414806086 | MT-ND4L | c.148A>G (p.Asn50Asp) | |
| MT | m.10617A>T | CA414806088 | MT-ND4L | c.148A>T (p.Asn50Tyr) | |
| MT | m.10618A= | CA2573326454 | MT-ND4L | c.149A= (p.Asn50=) | |
| MT | m.10618A>C | CA414806091 | MT-ND4L | c.149A>C (p.Asn50Thr) | |
| MT | m.10618A>G | CA414806093 | MT-ND4L | c.149A>G (p.Asn50Ser) | |
| MT | m.10618A>T | CA414806094 | MT-ND4L | c.149A>T (p.Asn50Ile) | |
| MT | m.10619C>A | CA414806097 | MT-ND4L | c.150C>A (p.Asn50Lys) | |
| MT | m.10619C= | CA2499566838 | MT-ND4L | c.150C= (p.Asn50=) | |
| MT | m.10619C>G | CA414806099 | MT-ND4L | c.150C>G (p.Asn50Lys) | |
| MT | m.10619C>T | CA913164044 | MT-ND4L | c.150C>T (p.Asn50=) | dbSNP |
| MT | m.10620A= | CA2499566839 | MT-ND4L | c.151A= (p.Thr51=) | |
| MT | m.10620A>C | CA414806102 | MT-ND4L | c.151A>C (p.Thr51Pro) | |
| MT | m.10620A>G | CA414806104 | MT-ND4L | c.151A>G (p.Thr51Ala) | ClinVar dbSNP |
| MT | m.10620A>T | CA414806105 | MT-ND4L | c.151A>T (p.Thr51Ser) | |
| MT | m.10621C>A | CA414806108 | MT-ND4L | c.152C>A (p.Thr51Asn) | |
| MT | m.10621C= | CA2573326459 | MT-ND4L | c.152C= (p.Thr51=) | |
| MT | m.10621C>G | CA414806112 | MT-ND4L | c.152C>G (p.Thr51Ser) | |
| MT | m.10621C>T | CA414806110 | MT-ND4L | c.152C>T (p.Thr51Ile) | |
| MT | m.10622C>A | CA913164050 | MT-ND4L | c.153C>A (p.Thr51=) | |
| MT | m.10622C= | CA2573326462 | MT-ND4L | c.153C= (p.Thr51=) | |
| MT | m.10622C>G | CA913164049 | MT-ND4L | c.153C>G (p.Thr51=) | |
| MT | m.10622C>T | CA913164046 | MT-ND4L | c.153C>T (p.Thr51=) | |
| MT | m.10623C>A | CA414806114 | MT-ND4L | c.154C>A (p.His52Asn) | |
| MT | m.10623C= | CA2573326464 | MT-ND4L | c.154C= (p.His52=) | |
| MT | m.10623C>G | CA414806116 | MT-ND4L | c.154C>G (p.His52Asp) | |
| MT | m.10623C>T | CA414806118 | MT-ND4L | c.154C>T (p.His52Tyr) | |
| MT | m.10624A= | CA2573326467 | MT-ND4L | c.155A= (p.His52=) | |
| MT | m.10624A>C | CA414806120 | MT-ND4L | c.155A>C (p.His52Pro) | |
| MT | m.10624A>G | CA414806122 | MT-ND4L | c.155A>G (p.His52Arg) | |
| MT | m.10624A>T | CA414806124 | MT-ND4L | c.155A>T (p.His52Leu) | |
| MT | m.10625C>A | CA414806125 | MT-ND4L | c.156C>A (p.His52Gln) | |
| MT | m.10625C= | CA2573326469 | MT-ND4L | c.156C= (p.His52=) | |
| MT | m.10625C>G | CA414806127 | MT-ND4L | c.156C>G (p.His52Gln) | |
| MT | m.10625C>T | CA913164056 | MT-ND4L | c.156C>T (p.His52=) | |
| MT | m.10626T>A | CA414806130 | MT-ND4L | c.157T>A (p.Ser53Thr) | |
| MT | m.10626T>C | CA414806131 | MT-ND4L | c.157T>C (p.Ser53Pro) | |
| MT | m.10626T>G | CA414806133 | MT-ND4L | c.157T>G (p.Ser53Ala) | |
| MT | m.10626T= | CA2573326471 | MT-ND4L | c.157T= (p.Ser53=) | |
| MT | m.10627C>A | CA414806139 | MT-ND4L | c.158C>A (p.Ser53Tyr) | |
| MT | m.10627C= | CA2573326472 | MT-ND4L | c.158C= (p.Ser53=) | |
| MT | m.10627C>G | CA414806136 | MT-ND4L | c.158C>G (p.Ser53Cys) | |
| MT | m.10627C>T | CA414806137 | MT-ND4L | c.158C>T (p.Ser53Phe) | |
| MT | m.10628C>A | CA913164072 | MT-ND4L | c.159C>A (p.Ser53=) | |
| MT | m.10628C= | CA2573326475 | MT-ND4L | c.159C= (p.Ser53=) | |
| MT | m.10628C>G | CA913164066 | MT-ND4L | c.159C>G (p.Ser53=) | |
| MT | m.10628C>T | CA913164063 | MT-ND4L | c.159C>T (p.Ser53=) | |
| MT | m.10629C>A | CA414806142 | MT-ND4L | c.160C>A (p.Leu54Ile) | |
| MT | m.10629C= | CA2573326477 | MT-ND4L | c.160C= (p.Leu54=) | |
| MT | m.10629C>G | CA414806143 | MT-ND4L | c.160C>G (p.Leu54Val) | |
| MT | m.10629C>T | CA414806145 | MT-ND4L | c.160C>T (p.Leu54Phe) | |
| MT | m.10630T>A | CA414806148 | MT-ND4L | c.161T>A (p.Leu54His) | |
| MT | m.10630T>C | CA414806149 | MT-ND4L | c.161T>C (p.Leu54Pro) | ClinVar dbSNP |
| MT | m.10630T>G | CA414806151 | MT-ND4L | c.161T>G (p.Leu54Arg) | |
| MT | m.10630T= | CA2499566841 | MT-ND4L | c.161T= (p.Leu54=) | |
| MT | m.10631C>A | CA913164083 | MT-ND4L | c.162C>A (p.Leu54=) | |
| MT | m.10631C= | CA2499566844 | MT-ND4L | c.162C= (p.Leu54=) | |
| MT | m.10631C>G | CA913164082 | MT-ND4L | c.162C>G (p.Leu54=) | |
| MT | m.10631C>T | CA913164081 | MT-ND4L | c.162C>T (p.Leu54=) | dbSNP |
| MT | m.10632T>A | CA414806154 | MT-ND4L | c.163T>A (p.Leu55Ile) | |
| MT | m.10632T>C | CA16603200 | MT-ND4L | c.163T>C (p.Leu55=) | ClinVar dbSNP |
| MT | m.10632T>G | CA414806156 | MT-ND4L | c.163T>G (p.Leu55Val) | |
| MT | m.10632T= | CA2499566846 | MT-ND4L | c.163T= (p.Leu55=) | |
| MT | m.10633T>A | CA414806161 | MT-ND4L | c.164T>A (p.Leu55Ter) | |
| MT | m.10633T>C | CA414806160 | MT-ND4L | c.164T>C (p.Leu55Ser) | |
| MT | m.10633T>G | CA414806159 | MT-ND4L | c.164T>G (p.Leu55Ter) | |
| MT | m.10633T= | CA2573326483 | MT-ND4L | c.164T= (p.Leu55=) | |
| MT | m.10634A= | CA2499566848 | MT-ND4L | c.165A= (p.Leu55=) | |
| MT | m.10634A>C | CA414806164 | MT-ND4L | c.165A>C (p.Leu55Phe) | |
| MT | m.10634A>G | CA913164096 | MT-ND4L | c.165A>G (p.Leu55=) | dbSNP |
| MT | m.10634A>T | CA414806166 | MT-ND4L | c.165A>T (p.Leu55Phe) | |
| MT | m.10635G>A | CA414806169 | MT-ND4L | c.166G>A (p.Ala56Thr) | ClinVar dbSNP |
| MT | m.10635G>C | CA414806172 | MT-ND4L | c.166G>C (p.Ala56Pro) | |
| MT | m.10635G= | CA2499566850 | MT-ND4L | c.166G= (p.Ala56=) | |
| MT | m.10635G>T | CA414806171 | MT-ND4L | c.166G>T (p.Ala56Ser) | |
| MT | m.10636C>A | CA414806175 | MT-ND4L | c.167C>A (p.Ala56Asp) | |
| MT | m.10636C= | CA2573326488 | MT-ND4L | c.167C= (p.Ala56=) | |
| MT | m.10636C>G | CA414806178 | MT-ND4L | c.167C>G (p.Ala56Gly) | |
| MT | m.10636C>T | CA414806176 | MT-ND4L | c.167C>T (p.Ala56Val) | |
| MT | m.10637C>A | CA913164109 | MT-ND4L | c.168C>A (p.Ala56=) | |
| MT | m.10637C= | CA2499566852 | MT-ND4L | c.168C= (p.Ala56=) | |
| MT | m.10637C>G | CA913164107 | MT-ND4L | c.168C>G (p.Ala56=) | |
| MT | m.10637C>T | CA913164110 | MT-ND4L | c.168C>T (p.Ala56=) | dbSNP |
| MT | m.10638A= | CA2573326490 | MT-ND4L | c.169A= (p.Asn57=) | |
| MT | m.10638A>C | CA414806180 | MT-ND4L | c.169A>C (p.Asn57His) | |
| MT | m.10638A>G | CA414806184 | MT-ND4L | c.169A>G (p.Asn57Asp) | |
| MT | m.10638A>T | CA414806182 | MT-ND4L | c.169A>T (p.Asn57Tyr) | |
| MT | m.10639A= | CA2499566854 | MT-ND4L | c.170A= (p.Asn57=) | |
| MT | m.10639A>C | CA414806186 | MT-ND4L | c.170A>C (p.Asn57Thr) | |
| MT | m.10639A>G | CA414806188 | MT-ND4L | c.170A>G (p.Asn57Ser) | ClinVar dbSNP |
| MT | m.10639A>T | CA414806190 | MT-ND4L | c.170A>T (p.Asn57Ile) | |
| MT | m.10640T>A | CA337098921 | MT-ND4L | c.171T>A (p.Asn57Lys) | |
| MT | m.10640T>C | CA337098924 | MT-ND4L | c.171T>C (p.Asn57=) | dbSNP |
| MT | m.10640T>G | CA337098927 | MT-ND4L | c.171T>G (p.Asn57Lys) | |
| MT | m.10640T= | CA2499566856 | MT-ND4L | c.171T= (p.Asn57=) | |
| MT | m.10641A= | CA2573326496 | MT-ND4L | c.172A= (p.Ile58=) | |
| MT | m.10641A>C | CA414806197 | MT-ND4L | c.172A>C (p.Ile58Leu) | |
| MT | m.10641A>G | CA414806198 | MT-ND4L | c.172A>G (p.Ile58Val) | |
| MT | m.10641A>T | CA414806200 | MT-ND4L | c.172A>T (p.Ile58Phe) | |
| MT | m.10642T>A | CA414806202 | MT-ND4L | c.173T>A (p.Ile58Asn) | |
| MT | m.10642T>C | CA414806204 | MT-ND4L | c.173T>C (p.Ile58Thr) | |
| MT | m.10642T>G | CA414806205 | MT-ND4L | c.173T>G (p.Ile58Ser) | |
| MT | m.10642T= | CA2573326497 | MT-ND4L | c.173T= (p.Ile58=) | |
| MT | m.10643T>A | CA913164132 | MT-ND4L | c.174T>A (p.Ile58=) | |
| MT | m.10643T>C | CA913164131 | MT-ND4L | c.174T>C (p.Ile58=) | dbSNP |
| MT | m.10643T>G | CA414806207 | MT-ND4L | c.174T>G (p.Ile58Met) | |
| MT | m.10643T= | CA2499566858 | MT-ND4L | c.174T= (p.Ile58=) | |
| MT | m.10644G>A | CA414806210 | MT-ND4L | c.175G>A (p.Val59Met) | ClinVar dbSNP |
| MT | m.10644G>C | CA414806213 | MT-ND4L | c.175G>C (p.Val59Leu) | |
| MT | m.10644G= | CA2499566860 | MT-ND4L | c.175G= (p.Val59=) | |
| MT | m.10644G>T | CA414806211 | MT-ND4L | c.175G>T (p.Val59Leu) | |
| MT | m.10645T>A | CA414806216 | MT-ND4L | c.176T>A (p.Val59Glu) | |
| MT | m.10645T>C | CA414806217 | MT-ND4L | c.176T>C (p.Val59Ala) | |
| MT | m.10645T>G | CA414806219 | MT-ND4L | c.176T>G (p.Val59Gly) | |
| MT | m.10645T= | CA2573326503 | MT-ND4L | c.176T= (p.Val59=) | |
| MT | m.10646G>A | CA337098930 | MT-ND4L | c.177G>A (p.Val59=) | dbSNP |
| MT | m.10646G>C | CA913164139 | MT-ND4L | c.177G>C (p.Val59=) | dbSNP |
| MT | m.10646G= | CA2499566862 | MT-ND4L | c.177G= (p.Val59=) | |
| MT | m.10646G>T | CA913164141 | MT-ND4L | c.177G>T (p.Val59=) | |
| MT | m.10647C>A | CA414806223 | MT-ND4L | c.178C>A (p.Pro60Thr) | |
| MT | m.10647C= | CA2573326506 | MT-ND4L | c.178C= (p.Pro60=) | |
| MT | m.10647C>G | CA414806225 | MT-ND4L | c.178C>G (p.Pro60Ala) | |
| MT | m.10647C>T | CA414806226 | MT-ND4L | c.178C>T (p.Pro60Ser) | |
| MT | m.10648C>A | CA414806229 | MT-ND4L | c.179C>A (p.Pro60His) | |
| MT | m.10648C= | CA2573326508 | MT-ND4L | c.179C= (p.Pro60=) | |
| MT | m.10648C>G | CA414806231 | MT-ND4L | c.179C>G (p.Pro60Arg) | |
| MT | m.10648C>T | CA414806232 | MT-ND4L | c.179C>T (p.Pro60Leu) | |
| MT | m.10649T>A | CA913164153 | MT-ND4L | c.180T>A (p.Pro60=) | |
| MT | m.10649T>C | CA913164152 | MT-ND4L | c.180T>C (p.Pro60=) | dbSNP |
| MT | m.10649T>G | CA913164156 | MT-ND4L | c.180T>G (p.Pro60=) | dbSNP |
| MT | m.10649T= | CA2499566864 | MT-ND4L | c.180T= (p.Pro60=) | |
| MT | m.10650A= | CA2499566865 | MT-ND4L | c.181A= (p.Ile61=) | |
| MT | m.10650A>C | CA414806238 | MT-ND4L | c.181A>C (p.Ile61Leu) | |
| MT | m.10650A>G | CA414806234 | MT-ND4L | c.181A>G (p.Ile61Val) | dbSNP |
| MT | m.10650A>T | CA414806236 | MT-ND4L | c.181A>T (p.Ile61Phe) | |
| MT | m.10651T>A | CA414806240 | MT-ND4L | c.182T>A (p.Ile61Asn) | |
| MT | m.10651T>C | CA414806242 | MT-ND4L | c.182T>C (p.Ile61Thr) | |
| MT | m.10651T>G | CA414806244 | MT-ND4L | c.182T>G (p.Ile61Ser) | |
| MT | m.10651T= | CA2573326512 | MT-ND4L | c.182T= (p.Ile61=) | |
| MT | m.10652T>A | CA913164164 | MT-ND4L | c.183T>A (p.Ile61=) | |
| MT | m.10652T>C | CA913164166 | MT-ND4L | c.183T>C (p.Ile61=) | dbSNP |
| MT | m.10652T>G | CA414806245 | MT-ND4L | c.183T>G (p.Ile61Met) | |
| MT | m.10652T= | CA2499566867 | MT-ND4L | c.183T= (p.Ile61=) | |
| MT | m.10653G>A | CA414806248 | MT-ND4L | c.184G>A (p.Ala62Thr) | ClinVar dbSNP |
| MT | m.10653G>C | CA337098933 | MT-ND4L | c.184G>C (p.Ala62Pro) | |
| MT | m.10653G= | CA2499566868 | MT-ND4L | c.184G= (p.Ala62=) | |
| MT | m.10653G>T | CA337098936 | MT-ND4L | c.184G>T (p.Ala62Ser) | |
| MT | m.10654C>A | CA414806253 | MT-ND4L | c.185C>A (p.Ala62Asp) | |
| MT | m.10654C= | CA2499566870 | MT-ND4L | c.185C= (p.Ala62=) | |
| MT | m.10654C>G | CA414806255 | MT-ND4L | c.185C>G (p.Ala62Gly) | |
| MT | m.10654C>T | CA414806256 | MT-ND4L | c.185C>T (p.Ala62Val) | ClinVar dbSNP |
| MT | m.10655C>A | CA913164172 | MT-ND4L | c.186C>A (p.Ala62=) | |
| MT | m.10655C= | CA2499566872 | MT-ND4L | c.186C= (p.Ala62=) | |
| MT | m.10655C>G | CA913164174 | MT-ND4L | c.186C>G (p.Ala62=) | |
| MT | m.10655C>T | CA913164175 | MT-ND4L | c.186C>T (p.Ala62=) | dbSNP |
| MT | m.10656A= | CA2499566874 | MT-ND4L | c.187A= (p.Ile63=) | |
| MT | m.10656A>C | CA414806259 | MT-ND4L | c.187A>C (p.Ile63Leu) | |
| MT | m.10656A>G | CA337098939 | MT-ND4L | c.187A>G (p.Ile63Val) | dbSNP |
| MT | m.10656A>T | CA414806261 | MT-ND4L | c.187A>T (p.Ile63Leu) | |
| MT | m.10657T>A | CA414806264 | MT-ND4L | c.188T>A (p.Ile63Lys) | |
| MT | m.10657T>C | CA414806267 | MT-ND4L | c.188T>C (p.Ile63Thr) | |
| MT | m.10657T>G | CA414806265 | MT-ND4L | c.188T>G (p.Ile63Arg) | |
| MT | m.10657T= | CA2573326519 | MT-ND4L | c.188T= (p.Ile63=) | |
| MT | m.10658A= | CA2499566875 | MT-ND4L | c.189A= (p.Ile63=) | |
| MT | m.10658A>C | CA913164185 | MT-ND4L | c.189A>C (p.Ile63=) | |
| MT | m.10658A>G | CA337098942 | MT-ND4L | c.189A>G (p.Ile63Met) | dbSNP |
| MT | m.10658A>T | CA913164184 | MT-ND4L | c.189A>T (p.Ile63=) | |
| MT | m.10659C>A | CA414806272 | MT-ND4L | c.190C>A (p.Leu64Ile) | |
| MT | m.10659C= | CA2573326524 | MT-ND4L | c.190C= (p.Leu64=) | |
| MT | m.10659C>G | CA414806273 | MT-ND4L | c.190C>G (p.Leu64Val) | |
| MT | m.10659C>T | CA913164190 | MT-ND4L | c.190C>T (p.Leu64=) | |
| MT | m.10660T>A | CA414806275 | MT-ND4L | c.191T>A (p.Leu64Gln) | |
| MT | m.10660T>C | CA414806277 | MT-ND4L | c.191T>C (p.Leu64Pro) | |
| MT | m.10660T>G | CA414806278 | MT-ND4L | c.191T>G (p.Leu64Arg) | |
| MT | m.10660T= | CA2573326526 | MT-ND4L | c.191T= (p.Leu64=) | |
| MT | m.10661A= | CA2573326528 | MT-ND4L | c.192A= (p.Leu64=) | |
| MT | m.10661A>C | CA913164193 | MT-ND4L | c.192A>C (p.Leu64=) | |
| MT | m.10661A>G | CA913164192 | MT-ND4L | c.192A>G (p.Leu64=) | |
| MT | m.10661A>T | CA913164191 | MT-ND4L | c.192A>T (p.Leu64=) | |
| MT | m.10662G>A | CA414806281 | MT-ND4L | c.193G>A (p.Val65Ile) | dbSNP |
| MT | m.10662G>C | CA414806282 | MT-ND4L | c.193G>C (p.Val65Leu) | |
| MT | m.10662G= | CA2499566876 | MT-ND4L | c.193G= (p.Val65=) | |
| MT | m.10662G>T | CA414806284 | MT-ND4L | c.193G>T (p.Val65Phe) | |
| MT | m.10663T>A | CA414806287 | MT-ND4L | c.194T>A (p.Val65Asp) | |
| MT | m.10663T>C | CA340938 | MT-ND4L | c.194T>C (p.Val65Ala) | ClinVar dbSNP |
| MT | m.10663T>G | CA414806288 | MT-ND4L | c.194T>G (p.Val65Gly) | |
| MT | m.10663T= | CA2499566877 | MT-ND4L | c.194T= (p.Val65=) | |
| MT | m.10664C>A | CA913164203 | MT-ND4L | c.195C>A (p.Val65=) | dbSNP |
| MT | m.10664C= | CA2499566879 | MT-ND4L | c.195C= (p.Val65=) | |
| MT | m.10664C>G | CA913164206 | MT-ND4L | c.195C>G (p.Val65=) | |
| MT | m.10664C>T | CA414806291 | MT-ND4L | c.195C>T (p.Val65=) | dbSNP |
| MT | m.10665T>A | CA414806297 | MT-ND4L | c.196T>A (p.Phe66Ile) | |
| MT | m.10665T>C | CA414806293 | MT-ND4L | c.196T>C (p.Phe66Leu) | |
| MT | m.10665T>G | CA414806295 | MT-ND4L | c.196T>G (p.Phe66Val) | |
| MT | m.10665T= | CA2573326535 | MT-ND4L | c.196T= (p.Phe66=) | |
| MT | m.10666T>A | CA414806299 | MT-ND4L | c.197T>A (p.Phe66Tyr) | |
| MT | m.10666T>C | CA414806301 | MT-ND4L | c.197T>C (p.Phe66Ser) | |
| MT | m.10666T>G | CA414806302 | MT-ND4L | c.197T>G (p.Phe66Cys) | |
| MT | m.10666T= | CA2573326537 | MT-ND4L | c.197T= (p.Phe66=) | |
| MT | m.10667T>A | CA414806305 | MT-ND4L | c.198T>A (p.Phe66Leu) | |
| MT | m.10667T>C | CA913164220 | MT-ND4L | c.198T>C (p.Phe66=) | dbSNP |
| MT | m.10667T>G | CA414806306 | MT-ND4L | c.198T>G (p.Phe66Leu) | |
| MT | m.10667T= | CA2499566881 | MT-ND4L | c.198T= (p.Phe66=) | |
| MT | m.10667_10669del | CA2739235966 | MT-ND4L | c.198_200del (p.Ala67del) | dbSNP |
| MT | m.10668G>A | CA414806308 | MT-ND4L | c.199G>A (p.Ala67Thr) | dbSNP |
| MT | m.10668G>C | CA414806310 | MT-ND4L | c.199G>C (p.Ala67Pro) | |
| MT | m.10668G= | CA2499566882 | MT-ND4L | c.199G= (p.Ala67=) | |
| MT | m.10668G>T | CA414806312 | MT-ND4L | c.199G>T (p.Ala67Ser) | |
| MT | m.10669C>A | CA414806318 | MT-ND4L | c.200C>A (p.Ala67Asp) | |
| MT | m.10669C= | CA2573326542 | MT-ND4L | c.200C= (p.Ala67=) | |
| MT | m.10669C>G | CA414806316 | MT-ND4L | c.200C>G (p.Ala67Gly) | |
| MT | m.10669C>T | CA414806314 | MT-ND4L | c.200C>T (p.Ala67Val) | |
| MT | m.10670C>A | CA913164226 | MT-ND4L | c.201C>A (p.Ala67=) | |
| MT | m.10670C= | CA2499566884 | MT-ND4L | c.201C= (p.Ala67=) | |
| MT | m.10670C>G | CA913164224 | MT-ND4L | c.201C>G (p.Ala67=) | |
| MT | m.10670C>T | CA337098946 | MT-ND4L | c.201C>T (p.Ala67=) | dbSNP |
| MT | m.10671G>A | CA414806322 | MT-ND4L | c.202G>A (p.Ala68Thr) | |
| MT | m.10671G>C | CA414806324 | MT-ND4L | c.202G>C (p.Ala68Pro) | |
| MT | m.10671G= | CA2573326546 | MT-ND4L | c.202G= (p.Ala68=) | |
| MT | m.10671G>T | CA414806326 | MT-ND4L | c.202G>T (p.Ala68Ser) | |
| MT | m.10672C>A | CA414806328 | MT-ND4L | c.203C>A (p.Ala68Asp) | |
| MT | m.10672C= | CA2573326548 | MT-ND4L | c.203C= (p.Ala68=) | |
| MT | m.10672C>G | CA414806329 | MT-ND4L | c.203C>G (p.Ala68Gly) | |
| MT | m.10672C>T | CA414806332 | MT-ND4L | c.203C>T (p.Ala68Val) | |
| MT | m.10672_10673insT | CA2573105065 | MT-ND4L | c.203_204insT (p.Cys69LeufsTer24) | |
| MT | m.10673C>A | CA913164236 | MT-ND4L | c.204C>A (p.Ala68=) | dbSNP |
| MT | m.10673C= | CA2499566885 | MT-ND4L | c.204C= (p.Ala68=) | |
| MT | m.10673C>G | CA913164235 | MT-ND4L | c.204C>G (p.Ala68=) | |
| MT | m.10673C>T | CA913164232 | MT-ND4L | c.204C>T (p.Ala68=) | dbSNP |
| MT | m.10674T>A | CA414806334 | MT-ND4L | c.205T>A (p.Cys69Ser) | |
| MT | m.10674T>C | CA414806335 | MT-ND4L | c.205T>C (p.Cys69Arg) | |
| MT | m.10674T>G | CA414806337 | MT-ND4L | c.205T>G (p.Cys69Gly) | |
| MT | m.10674T= | CA2573326551 | MT-ND4L | c.205T= (p.Cys69=) | |
| MT | m.10674_10675insTTTTTAATGATACG | CA2573105066 | MT-ND4L | c.205_206insTTTTTAATGATACG (p.Cys69PhefsTer12) | |
| MT | m.10675G>A | CA414806343 | MT-ND4L | c.206G>A (p.Cys69Tyr) | |
| MT | m.10675G>C | CA414806341 | MT-ND4L | c.206G>C (p.Cys69Ser) | |
| MT | m.10675G= | CA2573326553 | MT-ND4L | c.206G= (p.Cys69=) | |
| MT | m.10675G>T | CA414806340 | MT-ND4L | c.206G>T (p.Cys69Phe) | |
| MT | m.10676C>A | CA414806346 | MT-ND4L | c.207C>A (p.Cys69Ter) | |
| MT | m.10676C= | CA2499566887 | MT-ND4L | c.207C= (p.Cys69=) | |
| MT | m.10676C>G | CA414806348 | MT-ND4L | c.207C>G (p.Cys69Trp) | |
| MT | m.10676C>T | CA913164243 | MT-ND4L | c.207C>T (p.Cys69=) | dbSNP |
| MT | m.10677G>A | CA414806350 | MT-ND4L | c.208G>A (p.Glu70Lys) | ClinVar dbSNP |
| MT | m.10677G>C | CA414806352 | MT-ND4L | c.208G>C (p.Glu70Gln) | |
| MT | m.10677G= | CA2499566888 | MT-ND4L | c.208G= (p.Glu70=) | |
| MT | m.10677G>T | CA414806353 | MT-ND4L | c.208G>T (p.Glu70Ter) | |
| MT | m.10678A= | CA2573326559 | MT-ND4L | c.209A= (p.Glu70=) | |
| MT | m.10678A>C | CA414806356 | MT-ND4L | c.209A>C (p.Glu70Ala) | |
| MT | m.10678A>G | CA414806357 | MT-ND4L | c.209A>G (p.Glu70Gly) | |
| MT | m.10678A>T | CA414806358 | MT-ND4L | c.209A>T (p.Glu70Val) | |
| MT | m.10679A= | CA2499566890 | MT-ND4L | c.210A= (p.Glu70=) | |
| MT | m.10679A>C | CA414806362 | MT-ND4L | c.210A>C (p.Glu70Asp) | |
| MT | m.10679A>G | CA337098950 | MT-ND4L | c.210A>G (p.Glu70=) | dbSNP |
| MT | m.10679A>T | CA414806364 | MT-ND4L | c.210A>T (p.Glu70Asp) | |
| MT | m.10680G>A | CA414806371 | MT-ND4L | c.211G>A (p.Ala71Thr) | ClinVar dbSNP |
| MT | m.10680G>C | CA414806367 | MT-ND4L | c.211G>C (p.Ala71Pro) | |
| MT | m.10680G= | CA2499566891 | MT-ND4L | c.211G= (p.Ala71=) | |
| MT | m.10680G>T | CA414806369 | MT-ND4L | c.211G>T (p.Ala71Ser) | |
| MT | m.10681C>A | CA414806373 | MT-ND4L | c.212C>A (p.Ala71Glu) | |
| MT | m.10681C= | CA2573326566 | MT-ND4L | c.212C= (p.Ala71=) | |
| MT | m.10681C>G | CA414806375 | MT-ND4L | c.212C>G (p.Ala71Gly) | |
| MT | m.10681C>T | CA414806377 | MT-ND4L | c.212C>T (p.Ala71Val) | |
| MT | m.10682A= | CA2573326567 | MT-ND4L | c.213A= (p.Ala71=) | |
| MT | m.10682A>C | CA913164253 | MT-ND4L | c.213A>C (p.Ala71=) | |
| MT | m.10682A>G | CA913164254 | MT-ND4L | c.213A>G (p.Ala71=) | |
| MT | m.10682A>T | CA913164255 | MT-ND4L | c.213A>T (p.Ala71=) | |
| MT | m.10683G>A | CA414806380 | MT-ND4L | c.214G>A (p.Ala72Thr) | |
| MT | m.10683G>C | CA414806381 | MT-ND4L | c.214G>C (p.Ala72Pro) | |
| MT | m.10683G= | CA2573326569 | MT-ND4L | c.214G= (p.Ala72=) | |
| MT | m.10683G>T | CA414806383 | MT-ND4L | c.214G>T (p.Ala72Ser) | |
| MT | m.10684C>A | CA414806386 | MT-ND4L | c.215C>A (p.Ala72Glu) | |
| MT | m.10684C= | CA2573326571 | MT-ND4L | c.215C= (p.Ala72=) | |
| MT | m.10684C>G | CA414806388 | MT-ND4L | c.215C>G (p.Ala72Gly) | |
| MT | m.10684C>T | CA414806389 | MT-ND4L | c.215C>T (p.Ala72Val) | |
| MT | m.10685G>A | CA337098953 | MT-ND4L | c.216G>A (p.Ala72=) | dbSNP |
| MT | m.10685G>C | CA913164269 | MT-ND4L | c.216G>C (p.Ala72=) | |
| MT | m.10685G= | CA2499566893 | MT-ND4L | c.216G= (p.Ala72=) | |
| MT | m.10685G>T | CA913164268 | MT-ND4L | c.216G>T (p.Ala72=) | |
| MT | m.10686G>A | CA414806395 | MT-ND4L | c.217G>A (p.Val73Met) | ClinVar dbSNP COSMIC |
| MT | m.10686G>C | CA414806397 | MT-ND4L | c.217G>C (p.Val73Leu) | |
| MT | m.10686G= | CA2499566895 | MT-ND4L | c.217G= (p.Val73=) | |
| MT | m.10686G>T | CA414806393 | MT-ND4L | c.217G>T (p.Val73Leu) | |
| MT | m.10687T>A | CA414806401 | MT-ND4L | c.218T>A (p.Val73Glu) | |
| MT | m.10687T>C | CA414806400 | MT-ND4L | c.218T>C (p.Val73Ala) | |
| MT | m.10687T>G | CA414806403 | MT-ND4L | c.218T>G (p.Val73Gly) | |
| MT | m.10687T= | CA2573326575 | MT-ND4L | c.218T= (p.Val73=) | |
| MT | m.10688G>A | CA337098956 | MT-ND4L | c.219G>A (p.Val73=) | dbSNP |
| MT | m.10688G>C | CA913164281 | MT-ND4L | c.219G>C (p.Val73=) | dbSNP |
| MT | m.10688G= | CA2499566897 | MT-ND4L | c.219G= (p.Val73=) | |
| MT | m.10688G>T | CA913164280 | MT-ND4L | c.219G>T (p.Val73=) | |
| MT | m.10689G>A | CA337098959 | MT-ND4L | c.220G>A (p.Gly74Ser) | dbSNP |
| MT | m.10689G>C | CA414806407 | MT-ND4L | c.220G>C (p.Gly74Arg) | |
| MT | m.10689G= | CA2499566898 | MT-ND4L | c.220G= (p.Gly74=) | |
| MT | m.10689G>T | CA414806409 | MT-ND4L | c.220G>T (p.Gly74Cys) |