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.6470_15588del | CA645373332 | ClinVar | ||
MT | m.7129_13991del | CA645373333 | ClinVar | ||
MT | m.8839_14895del | CA645373339 | ClinVar | ||
MT | m.9062_16052del | CA2580618296 | |||
MT | m.10106_15067del | CA645373340 | ClinVar | ||
MT | m.10775_14941del | CA2740090229 | ClinVar | ||
MT | m.10950_15540del | CA2580102079 | ClinVar | ||
MT | m.11263_15374del | CA645373341 | ClinVar | ||
MT | m.12114_14420del | CA645373342 | ClinVar | ||
MT | m.13851C>A | CA414819784 | MT-ND5 | c.1515C>A (p.Asn505Lys) | |
MT | m.13851C= | CA2499568200 | MT-ND5 | c.1515C= (p.Asn505=) | |
MT | m.13851C>G | CA414819785 | MT-ND5 | c.1515C>G (p.Asn505Lys) | |
MT | m.13851C>T | CA913171255 | MT-ND5 | c.1515C>T (p.Asn505=) | dbSNP |
MT | m.13852T>A | CA414819789 | MT-ND5 | c.1516T>A (p.Tyr506Asn) | |
MT | m.13852T>C | CA414819792 | MT-ND5 | c.1516T>C (p.Tyr506His) | |
MT | m.13852T>G | CA414819790 | MT-ND5 | c.1516T>G (p.Tyr506Asp) | |
MT | m.13852T= | CA2573325656 | MT-ND5 | c.1516T= (p.Tyr506=) | |
MT | m.13853A= | CA2573325660 | MT-ND5 | c.1517A= (p.Tyr506=) | |
MT | m.13853A>C | CA414819794 | MT-ND5 | c.1517A>C (p.Tyr506Ser) | |
MT | m.13853A>G | CA414819796 | MT-ND5 | c.1517A>G (p.Tyr506Cys) | |
MT | m.13853A>T | CA414819798 | MT-ND5 | c.1517A>T (p.Tyr506Phe) | |
MT | m.13854C>A | CA414819800 | MT-ND5 | c.1518C>A (p.Tyr506Ter) | |
MT | m.13854C= | CA2573325663 | MT-ND5 | c.1518C= (p.Tyr506=) | |
MT | m.13854C>G | CA414819802 | MT-ND5 | c.1518C>G (p.Tyr506Ter) | |
MT | m.13854C>T | CA913171256 | MT-ND5 | c.1518C>T (p.Tyr506=) | dbSNP |
MT | m.13855C>A | CA414819805 | MT-ND5 | c.1519C>A (p.Leu507Ile) | |
MT | m.13855C= | CA2499568201 | MT-ND5 | c.1519C= (p.Leu507=) | |
MT | m.13855C>G | CA414819806 | MT-ND5 | c.1519C>G (p.Leu507Val) | |
MT | m.13855C>T | CA337099833 | MT-ND5 | c.1519C>T (p.Leu507=) | dbSNP |
MT | m.13856T>A | CA414819809 | MT-ND5 | c.1520T>A (p.Leu507Gln) | |
MT | m.13856T>C | CA414819811 | MT-ND5 | c.1520T>C (p.Leu507Pro) | |
MT | m.13856T>G | CA414819812 | MT-ND5 | c.1520T>G (p.Leu507Arg) | |
MT | m.13856T= | CA2573325666 | MT-ND5 | c.1520T= (p.Leu507=) | |
MT | m.13857A= | CA2499568202 | MT-ND5 | c.1521A= (p.Leu507=) | |
MT | m.13857A>C | CA913171257 | MT-ND5 | c.1521A>C (p.Leu507=) | |
MT | m.13857A>G | CA913171258 | MT-ND5 | c.1521A>G (p.Leu507=) | dbSNP |
MT | m.13857A>T | CA913171259 | MT-ND5 | c.1521A>T (p.Leu507=) | |
MT | m.13858A= | CA2573325672 | MT-ND5 | c.1522A= (p.Thr508=) | |
MT | m.13858A>C | CA414819816 | MT-ND5 | c.1522A>C (p.Thr508Pro) | |
MT | m.13858A>G | CA414819818 | MT-ND5 | c.1522A>G (p.Thr508Ala) | |
MT | m.13858A>T | CA414819817 | MT-ND5 | c.1522A>T (p.Thr508Ser) | |
MT | m.13859C>A | CA414819822 | MT-ND5 | c.1523C>A (p.Thr508Asn) | |
MT | m.13859C= | CA2573325675 | MT-ND5 | c.1523C= (p.Thr508=) | |
MT | m.13859C>G | CA414819823 | MT-ND5 | c.1523C>G (p.Thr508Ser) | |
MT | m.13859C>T | CA414819825 | MT-ND5 | c.1523C>T (p.Thr508Ile) | |
MT | m.13860C>A | CA913171260 | MT-ND5 | c.1524C>A (p.Thr508=) | |
MT | m.13860C= | CA2573325678 | MT-ND5 | c.1524C= (p.Thr508=) | |
MT | m.13860C>G | CA913171261 | MT-ND5 | c.1524C>G (p.Thr508=) | |
MT | m.13860C>T | CA913171262 | MT-ND5 | c.1524C>T (p.Thr508=) | |
MT | m.13861A= | CA2573325679 | MT-ND5 | c.1525A= (p.Asn509=) | |
MT | m.13861A>C | CA414819827 | MT-ND5 | c.1525A>C (p.Asn509His) | |
MT | m.13861A>G | CA414819829 | MT-ND5 | c.1525A>G (p.Asn509Asp) | |
MT | m.13861A>T | CA414819831 | MT-ND5 | c.1525A>T (p.Asn509Tyr) | |
MT | m.13862A= | CA2499568203 | MT-ND5 | c.1526A= (p.Asn509=) | |
MT | m.13862A>C | CA414819833 | MT-ND5 | c.1526A>C (p.Asn509Thr) | |
MT | m.13862A>G | CA414819834 | MT-ND5 | c.1526A>G (p.Asn509Ser) | ClinVar dbSNP |
MT | m.13862A>T | CA414819836 | MT-ND5 | c.1526A>T (p.Asn509Ile) | |
MT | m.13863C>A | CA414819839 | MT-ND5 | c.1527C>A (p.Asn509Lys) | |
MT | m.13863C= | CA2499568204 | MT-ND5 | c.1527C= (p.Asn509=) | |
MT | m.13863C>G | CA414819841 | MT-ND5 | c.1527C>G (p.Asn509Lys) | |
MT | m.13863C>T | CA913171263 | MT-ND5 | c.1527C>T (p.Asn509=) | dbSNP |
MT | m.13864A= | CA2573325689 | MT-ND5 | c.1528A= (p.Lys510=) | |
MT | m.13864A>C | CA414819847 | MT-ND5 | c.1528A>C (p.Lys510Gln) | |
MT | m.13864A>G | CA414819845 | MT-ND5 | c.1528A>G (p.Lys510Glu) | |
MT | m.13864A>T | CA414819844 | MT-ND5 | c.1528A>T (p.Lys510Ter) | |
MT | m.13865A= | CA2573325692 | MT-ND5 | c.1529A= (p.Lys510=) | |
MT | m.13865A>C | CA414819850 | MT-ND5 | c.1529A>C (p.Lys510Thr) | |
MT | m.13865A>G | CA414819851 | MT-ND5 | c.1529A>G (p.Lys510Arg) | |
MT | m.13865A>T | CA414819853 | MT-ND5 | c.1529A>T (p.Lys510Ile) | |
MT | m.13866A= | CA2499568205 | MT-ND5 | c.1530A= (p.Lys510=) | |
MT | m.13866A>C | CA414819856 | MT-ND5 | c.1530A>C (p.Lys510Asn) | |
MT | m.13866A>G | CA913171264 | MT-ND5 | c.1530A>G (p.Lys510=) | dbSNP |
MT | m.13866A>T | CA414819857 | MT-ND5 | c.1530A>T (p.Lys510Asn) | |
MT | m.13867C>A | CA414819860 | MT-ND5 | c.1531C>A (p.Leu511Ile) | |
MT | m.13867C= | CA2573325697 | MT-ND5 | c.1531C= (p.Leu511=) | |
MT | m.13867C>G | CA414819861 | MT-ND5 | c.1531C>G (p.Leu511Val) | |
MT | m.13867C>T | CA414819863 | MT-ND5 | c.1531C>T (p.Leu511Phe) | |
MT | m.13868T>A | CA414819865 | MT-ND5 | c.1532T>A (p.Leu511His) | |
MT | m.13868T>C | CA414819867 | MT-ND5 | c.1532T>C (p.Leu511Pro) | |
MT | m.13868T>G | CA414819868 | MT-ND5 | c.1532T>G (p.Leu511Arg) | |
MT | m.13868T= | CA2573325700 | MT-ND5 | c.1532T= (p.Leu511=) | |
MT | m.13868_13869del | CA2740098379 | MT-ND5 | c.1532_1533del (p.Leu511GlnfsTer20) | |
MT | m.13869T>A | CA913171265 | MT-ND5 | c.1533T>A (p.Leu511=) | |
MT | m.13869T>C | CA913171266 | MT-ND5 | c.1533T>C (p.Leu511=) | dbSNP |
MT | m.13869T>G | CA913171267 | MT-ND5 | c.1533T>G (p.Leu511=) | |
MT | m.13869T= | CA2499568206 | MT-ND5 | c.1533T= (p.Leu511=) | |
MT | m.13870A= | CA2573325705 | MT-ND5 | c.1534A= (p.Lys512=) | |
MT | m.13870A>C | CA414819875 | MT-ND5 | c.1534A>C (p.Lys512Gln) | |
MT | m.13870A>G | CA414819873 | MT-ND5 | c.1534A>G (p.Lys512Glu) | |
MT | m.13870A>T | CA414819871 | MT-ND5 | c.1534A>T (p.Lys512Ter) | |
MT | m.13871A= | CA2573325706 | MT-ND5 | c.1535A= (p.Lys512=) | |
MT | m.13871A>C | CA414819877 | MT-ND5 | c.1535A>C (p.Lys512Thr) | |
MT | m.13871A>G | CA414819881 | MT-ND5 | c.1535A>G (p.Lys512Arg) | |
MT | m.13871A>T | CA414819879 | MT-ND5 | c.1535A>T (p.Lys512Ile) | |
MT | m.13872A= | CA2499568207 | MT-ND5 | c.1536A= (p.Lys512=) | |
MT | m.13872A>C | CA414819883 | MT-ND5 | c.1536A>C (p.Lys512Asn) | |
MT | m.13872A>G | CA913171268 | MT-ND5 | c.1536A>G (p.Lys512=) | dbSNP |
MT | m.13872A>T | CA414819884 | MT-ND5 | c.1536A>T (p.Lys512Asn) | |
MT | m.13873A= | CA2573325710 | MT-ND5 | c.1537A= (p.Ile513=) | |
MT | m.13873A>C | CA414819887 | MT-ND5 | c.1537A>C (p.Ile513Leu) | |
MT | m.13873A>G | CA414819891 | MT-ND5 | c.1537A>G (p.Ile513Val) | |
MT | m.13873A>T | CA414819889 | MT-ND5 | c.1537A>T (p.Ile513Leu) | |
MT | m.13874T>A | CA414819893 | MT-ND5 | c.1538T>A (p.Ile513Lys) | |
MT | m.13874T>C | CA414819897 | MT-ND5 | c.1538T>C (p.Ile513Thr) | ClinVar dbSNP |
MT | m.13874T>G | CA414819895 | MT-ND5 | c.1538T>G (p.Ile513Arg) | |
MT | m.13874T= | CA2499568208 | MT-ND5 | c.1538T= (p.Ile513=) | |
MT | m.13875A= | CA2573325716 | MT-ND5 | c.1539A= (p.Ile513=) | |
MT | m.13875A>C | CA913171270 | MT-ND5 | c.1539A>C (p.Ile513=) | |
MT | m.13875A>G | CA414819899 | MT-ND5 | c.1539A>G (p.Ile513Met) | |
MT | m.13875A>T | CA913171269 | MT-ND5 | c.1539A>T (p.Ile513=) | |
MT | m.13876A= | CA2573325720 | MT-ND5 | c.1540A= (p.Lys514=) | |
MT | m.13876A>C | CA414819902 | MT-ND5 | c.1540A>C (p.Lys514Gln) | |
MT | m.13876A>G | CA414819903 | MT-ND5 | c.1540A>G (p.Lys514Glu) | |
MT | m.13876A>T | CA414819906 | MT-ND5 | c.1540A>T (p.Lys514Ter) | |
MT | m.13877A= | CA2573325724 | MT-ND5 | c.1541A= (p.Lys514=) | |
MT | m.13877A>C | CA414819908 | MT-ND5 | c.1541A>C (p.Lys514Thr) | |
MT | m.13877A>G | CA414819910 | MT-ND5 | c.1541A>G (p.Lys514Arg) | |
MT | m.13877A>T | CA414819912 | MT-ND5 | c.1541A>T (p.Lys514Ile) | |
MT | m.13878A= | CA2499568209 | MT-ND5 | c.1542A= (p.Lys514=) | |
MT | m.13878A>C | CA414819914 | MT-ND5 | c.1542A>C (p.Lys514Asn) | |
MT | m.13878A>G | CA913171271 | MT-ND5 | c.1542A>G (p.Lys514=) | dbSNP |
MT | m.13878A>T | CA414819915 | MT-ND5 | c.1542A>T (p.Lys514Asn) | |
MT | m.13879T>A | CA414819920 | MT-ND5 | c.1543T>A (p.Ser515Thr) | ClinVar dbSNP |
MT | m.13879T>C | CA337099835 | MT-ND5 | c.1543T>C (p.Ser515Pro) | ClinVar dbSNP |
MT | m.13879T>G | CA414819919 | MT-ND5 | c.1543T>G (p.Ser515Ala) | |
MT | m.13879T= | CA2499568210 | MT-ND5 | c.1543T= (p.Ser515=) | |
MT | m.13880C>A | CA337099838 | MT-ND5 | c.1544C>A (p.Ser515Tyr) | ClinVar dbSNP |
MT | m.13880C= | CA2499568211 | MT-ND5 | c.1544C= (p.Ser515=) | |
MT | m.13880C>G | CA337099840 | MT-ND5 | c.1544C>G (p.Ser515Cys) | |
MT | m.13880C>T | CA337099842 | MT-ND5 | c.1544C>T (p.Ser515Phe) | |
MT | m.13881C>A | CA913171272 | MT-ND5 | c.1545C>A (p.Ser515=) | |
MT | m.13881C= | CA2499568212 | MT-ND5 | c.1545C= (p.Ser515=) | |
MT | m.13881C>G | CA913171273 | MT-ND5 | c.1545C>G (p.Ser515=) | |
MT | m.13881C>T | CA913171274 | MT-ND5 | c.1545C>T (p.Ser515=) | dbSNP |
MT | m.13882C>A | CA414819928 | MT-ND5 | c.1546C>A (p.Pro516Thr) | |
MT | m.13882C= | CA2573325744 | MT-ND5 | c.1546C= (p.Pro516=) | |
MT | m.13882C>G | CA414819929 | MT-ND5 | c.1546C>G (p.Pro516Ala) | |
MT | m.13882C>T | CA414819930 | MT-ND5 | c.1546C>T (p.Pro516Ser) | |
MT | m.13883C>A | CA414819933 | MT-ND5 | c.1547C>A (p.Pro516Gln) | |
MT | m.13883C= | CA2573325747 | MT-ND5 | c.1547C= (p.Pro516=) | |
MT | m.13883C>G | CA414819935 | MT-ND5 | c.1547C>G (p.Pro516Arg) | |
MT | m.13883C>T | CA414819937 | MT-ND5 | c.1547C>T (p.Pro516Leu) | |
MT | m.13884A= | CA2499568213 | MT-ND5 | c.1548A= (p.Pro516=) | |
MT | m.13884A>C | CA913171275 | MT-ND5 | c.1548A>C (p.Pro516=) | |
MT | m.13884A>G | CA913171276 | MT-ND5 | c.1548A>G (p.Pro516=) | dbSNP |
MT | m.13884A>T | CA913171277 | MT-ND5 | c.1548A>T (p.Pro516=) | |
MT | m.13885C>A | CA414819941 | MT-ND5 | c.1549C>A (p.Leu517Ile) | ClinVar dbSNP |
MT | m.13885C= | CA2499568214 | MT-ND5 | c.1549C= (p.Leu517=) | |
MT | m.13885C>G | CA414819939 | MT-ND5 | c.1549C>G (p.Leu517Val) | |
MT | m.13885C>T | CA913171278 | MT-ND5 | c.1549C>T (p.Leu517=) | |
MT | m.13886T>A | CA414819943 | MT-ND5 | c.1550T>A (p.Leu517Gln) | |
MT | m.13886T>C | CA337099844 | MT-ND5 | c.1550T>C (p.Leu517Pro) | ClinVar dbSNP |
MT | m.13886T>G | CA414819946 | MT-ND5 | c.1550T>G (p.Leu517Arg) | |
MT | m.13886T= | CA2499568215 | MT-ND5 | c.1550T= (p.Leu517=) | |
MT | m.13887_13888del | CA2573105281 | MT-ND5 | c.1551_1552del (p.Cys518HisfsTer13) | |
MT | m.13887A= | CA2499568216 | MT-ND5 | c.1551A= (p.Leu517=) | |
MT | m.13887A>C | CA913171279 | MT-ND5 | c.1551A>C (p.Leu517=) | |
MT | m.13887A>G | CA913171280 | MT-ND5 | c.1551A>G (p.Leu517=) | dbSNP |
MT | m.13887A>T | CA913171281 | MT-ND5 | c.1551A>T (p.Leu517=) | |
MT | m.13888T>A | CA414819948 | MT-ND5 | c.1552T>A (p.Cys518Ser) | |
MT | m.13888T>C | CA414819950 | MT-ND5 | c.1552T>C (p.Cys518Arg) | ClinVar dbSNP |
MT | m.13888T>G | CA414819951 | MT-ND5 | c.1552T>G (p.Cys518Gly) | |
MT | m.13888T= | CA2499568217 | MT-ND5 | c.1552T= (p.Cys518=) | |
MT | m.13889G>A | CA414819954 | MT-ND5 | c.1553G>A (p.Cys518Tyr) | ClinVar dbSNP |
MT | m.13889G>C | CA414819955 | MT-ND5 | c.1553G>C (p.Cys518Ser) | dbSNP |
MT | m.13889G= | CA2499568218 | MT-ND5 | c.1553G= (p.Cys518=) | |
MT | m.13889G>T | CA414819957 | MT-ND5 | c.1553G>T (p.Cys518Phe) | |
MT | m.13890C>A | CA414819959 | MT-ND5 | c.1554C>A (p.Cys518Ter) | |
MT | m.13890C= | CA2499568219 | MT-ND5 | c.1554C= (p.Cys518=) | |
MT | m.13890C>G | CA414819961 | MT-ND5 | c.1554C>G (p.Cys518Trp) | |
MT | m.13890C>T | CA913171282 | MT-ND5 | c.1554C>T (p.Cys518=) | dbSNP |
MT | m.13892_13893del | CA2573105282 | MT-ND5 | c.1556_1557del (p.Thr519IlefsTer12) | |
MT | m.13891A= | CA2573325774 | MT-ND5 | c.1555A= (p.Thr519=) | |
MT | m.13891A>C | CA414819967 | MT-ND5 | c.1555A>C (p.Thr519Pro) | |
MT | m.13891A>G | CA414819964 | MT-ND5 | c.1555A>G (p.Thr519Ala) | |
MT | m.13891A>T | CA414819965 | MT-ND5 | c.1555A>T (p.Thr519Ser) | |
MT | m.13892C>A | CA414819970 | MT-ND5 | c.1556C>A (p.Thr519Lys) | |
MT | m.13892C= | CA2573325776 | MT-ND5 | c.1556C= (p.Thr519=) | |
MT | m.13892C>G | CA414819972 | MT-ND5 | c.1556C>G (p.Thr519Arg) | |
MT | m.13892C>T | CA414819973 | MT-ND5 | c.1556C>T (p.Thr519Ile) | |
MT | m.13892_13894del | CA2573105283 | MT-ND5 | c.1556_1558del (p.Thr519_Phe520delinsIle) | |
MT | m.13893A= | CA2573325779 | MT-ND5 | c.1557A= (p.Thr519=) | |
MT | m.13893A>C | CA913171283 | MT-ND5 | c.1557A>C (p.Thr519=) | |
MT | m.13893A>G | CA913171284 | MT-ND5 | c.1557A>G (p.Thr519=) | dbSNP |
MT | m.13893A>T | CA913171285 | MT-ND5 | c.1557A>T (p.Thr519=) | |
MT | m.13894T>A | CA414819975 | MT-ND5 | c.1558T>A (p.Phe520Ile) | |
MT | m.13894T>C | CA414819977 | MT-ND5 | c.1558T>C (p.Phe520Leu) | |
MT | m.13894T>G | CA414819979 | MT-ND5 | c.1558T>G (p.Phe520Val) | |
MT | m.13894T= | CA2573325785 | MT-ND5 | c.1558T= (p.Phe520=) | |
MT | m.13895_13897del | CA2573105284 | MT-ND5 | c.1559_1561del (p.Phe520del) | |
MT | m.13895T>A | CA414819981 | MT-ND5 | c.1559T>A (p.Phe520Tyr) | |
MT | m.13895T>C | CA414819983 | MT-ND5 | c.1559T>C (p.Phe520Ser) | |
MT | m.13895T>G | CA414819985 | MT-ND5 | c.1559T>G (p.Phe520Cys) | |
MT | m.13895T= | CA2573325787 | MT-ND5 | c.1559T= (p.Phe520=) | |
MT | m.13896T>A | CA414819987 | MT-ND5 | c.1560T>A (p.Phe520Leu) | |
MT | m.13896T>C | CA645611423 | MT-ND5 | c.1560T>C (p.Phe520=) | dbSNP COSMIC |
MT | m.13896T>G | CA414819989 | MT-ND5 | c.1560T>G (p.Phe520Leu) | |
MT | m.13896T= | CA2499568220 | MT-ND5 | c.1560T= (p.Phe520=) | |
MT | m.13897T>A | CA414819993 | MT-ND5 | c.1561T>A (p.Tyr521Asn) | |
MT | m.13897T>C | CA414819995 | MT-ND5 | c.1561T>C (p.Tyr521His) | |
MT | m.13897T>G | CA414819991 | MT-ND5 | c.1561T>G (p.Tyr521Asp) | |
MT | m.13897T= | CA2573325795 | MT-ND5 | c.1561T= (p.Tyr521=) | |
MT | m.13898A= | CA2573325797 | MT-ND5 | c.1562A= (p.Tyr521=) | |
MT | m.13898A>C | CA414820001 | MT-ND5 | c.1562A>C (p.Tyr521Ser) | |
MT | m.13898A>G | CA414819997 | MT-ND5 | c.1562A>G (p.Tyr521Cys) | |
MT | m.13898A>T | CA414819999 | MT-ND5 | c.1562A>T (p.Tyr521Phe) | |
MT | m.13899T>A | CA414820003 | MT-ND5 | c.1563T>A (p.Tyr521Ter) | |
MT | m.13899T>C | CA337099846 | MT-ND5 | c.1563T>C (p.Tyr521=) | dbSNP |
MT | m.13899T>G | CA414820006 | MT-ND5 | c.1563T>G (p.Tyr521Ter) | |
MT | m.13899T= | CA2499568221 | MT-ND5 | c.1563T= (p.Tyr521=) | |
MT | m.13900T>A | CA414820009 | MT-ND5 | c.1564T>A (p.Phe522Ile) | |
MT | m.13900T>C | CA414820010 | MT-ND5 | c.1564T>C (p.Phe522Leu) | |
MT | m.13900T>G | CA414820012 | MT-ND5 | c.1564T>G (p.Phe522Val) | |
MT | m.13900T= | CA2573325806 | MT-ND5 | c.1564T= (p.Phe522=) | |
MT | m.13901T>A | CA414820014 | MT-ND5 | c.1565T>A (p.Phe522Tyr) | |
MT | m.13901T>C | CA414820016 | MT-ND5 | c.1565T>C (p.Phe522Ser) | |
MT | m.13901T>G | CA414820018 | MT-ND5 | c.1565T>G (p.Phe522Cys) | |
MT | m.13901T= | CA2573325813 | MT-ND5 | c.1565T= (p.Phe522=) | |
MT | m.13902C>A | CA414820022 | MT-ND5 | c.1566C>A (p.Phe522Leu) | |
MT | m.13902C= | CA2499568222 | MT-ND5 | c.1566C= (p.Phe522=) | |
MT | m.13902C>G | CA414820020 | MT-ND5 | c.1566C>G (p.Phe522Leu) | |
MT | m.13902C>T | CA913171286 | MT-ND5 | c.1566C>T (p.Phe522=) | dbSNP |
MT | m.13903T>A | CA414820024 | MT-ND5 | c.1567T>A (p.Ser523Thr) | |
MT | m.13903T>C | CA414820026 | MT-ND5 | c.1567T>C (p.Ser523Pro) | |
MT | m.13903T>G | CA414820028 | MT-ND5 | c.1567T>G (p.Ser523Ala) | |
MT | m.13903T= | CA2573325821 | MT-ND5 | c.1567T= (p.Ser523=) | |
MT | m.13904C>A | CA414820030 | MT-ND5 | c.1568C>A (p.Ser523Tyr) | |
MT | m.13904C= | CA2573325826 | MT-ND5 | c.1568C= (p.Ser523=) | |
MT | m.13904C>G | CA414820032 | MT-ND5 | c.1568C>G (p.Ser523Cys) | |
MT | m.13904C>T | CA414820034 | MT-ND5 | c.1568C>T (p.Ser523Phe) | |
MT | m.13905C>A | CA913171287 | MT-ND5 | c.1569C>A (p.Ser523=) | |
MT | m.13905C= | CA2573325831 | MT-ND5 | c.1569C= (p.Ser523=) | |
MT | m.13905C>G | CA913171288 | MT-ND5 | c.1569C>G (p.Ser523=) | |
MT | m.13905C>T | CA913171289 | MT-ND5 | c.1569C>T (p.Ser523=) | |
MT | m.13906A= | CA2573325834 | MT-ND5 | c.1570A= (p.Asn524=) | |
MT | m.13906A>C | CA414820035 | MT-ND5 | c.1570A>C (p.Asn524His) | |
MT | m.13906A>G | CA414820037 | MT-ND5 | c.1570A>G (p.Asn524Asp) | |
MT | m.13906A>T | CA414820039 | MT-ND5 | c.1570A>T (p.Asn524Tyr) | |
MT | m.13907A= | CA2499568223 | MT-ND5 | c.1571A= (p.Asn524=) | |
MT | m.13907A>C | CA414820041 | MT-ND5 | c.1571A>C (p.Asn524Thr) | |
MT | m.13907A>G | CA414820043 | MT-ND5 | c.1571A>G (p.Asn524Ser) | ClinVar dbSNP |
MT | m.13907A>T | CA414820045 | MT-ND5 | c.1571A>T (p.Asn524Ile) | |
MT | m.13908C>A | CA414820050 | MT-ND5 | c.1572C>A (p.Asn524Lys) | |
MT | m.13908C= | CA2499568224 | MT-ND5 | c.1572C= (p.Asn524=) | |
MT | m.13908C>G | CA414820048 | MT-ND5 | c.1572C>G (p.Asn524Lys) | |
MT | m.13908C>T | CA913171290 | MT-ND5 | c.1572C>T (p.Asn524=) | dbSNP |
MT | m.13909A= | CA2573325844 | MT-ND5 | c.1573A= (p.Ile525=) | |
MT | m.13909A>C | CA414820051 | MT-ND5 | c.1573A>C (p.Ile525Leu) | |
MT | m.13909A>G | CA414820053 | MT-ND5 | c.1573A>G (p.Ile525Val) | |
MT | m.13909A>T | CA414820056 | MT-ND5 | c.1573A>T (p.Ile525Leu) | |
MT | m.13910T>A | CA414820058 | MT-ND5 | c.1574T>A (p.Ile525Lys) | |
MT | m.13910T>C | CA414820060 | MT-ND5 | c.1574T>C (p.Ile525Thr) | |
MT | m.13910T>G | CA414820062 | MT-ND5 | c.1574T>G (p.Ile525Arg) | |
MT | m.13910T= | CA2573325848 | MT-ND5 | c.1574T= (p.Ile525=) | |
MT | m.13911A= | CA2499568225 | MT-ND5 | c.1575A= (p.Ile525=) | |
MT | m.13911A>C | CA913171291 | MT-ND5 | c.1575A>C (p.Ile525=) | |
MT | m.13911A>G | CA414820063 | MT-ND5 | c.1575A>G (p.Ile525Met) | dbSNP |
MT | m.13911A>T | CA913171292 | MT-ND5 | c.1575A>T (p.Ile525=) | |
MT | m.13912C>A | CA414820066 | MT-ND5 | c.1576C>A (p.Leu526Ile) | |
MT | m.13912C= | CA2573325855 | MT-ND5 | c.1576C= (p.Leu526=) | |
MT | m.13912C>G | CA414820068 | MT-ND5 | c.1576C>G (p.Leu526Val) | |
MT | m.13912C>T | CA414820069 | MT-ND5 | c.1576C>T (p.Leu526Phe) | ClinVar dbSNP |
MT | m.13913T>A | CA414820072 | MT-ND5 | c.1577T>A (p.Leu526His) | |
MT | m.13913T>C | CA414820074 | MT-ND5 | c.1577T>C (p.Leu526Pro) | ClinVar dbSNP |
MT | m.13913T>G | CA414820075 | MT-ND5 | c.1577T>G (p.Leu526Arg) | |
MT | m.13913T= | CA2499568226 | MT-ND5 | c.1577T= (p.Leu526=) | |
MT | m.13914C>A | CA913171295 | MT-ND5 | c.1578C>A (p.Leu526=) | dbSNP |
MT | m.13914C= | CA2499568227 | MT-ND5 | c.1578C= (p.Leu526=) | |
MT | m.13914C>G | CA913171293 | MT-ND5 | c.1578C>G (p.Leu526=) | |
MT | m.13914C>T | CA913171294 | MT-ND5 | c.1578C>T (p.Leu526=) | |
MT | m.13915G>A | CA414820078 | MT-ND5 | c.1579G>A (p.Gly527Arg) | |
MT | m.13915G>C | CA414820081 | MT-ND5 | c.1579G>C (p.Gly527Arg) | |
MT | m.13915G= | CA2573325866 | MT-ND5 | c.1579G= (p.Gly527=) | |
MT | m.13915G>T | CA414820079 | MT-ND5 | c.1579G>T (p.Gly527Ter) | |
MT | m.13916G>A | CA414820084 | MT-ND5 | c.1580G>A (p.Gly527Glu) | dbSNP |
MT | m.13916G>C | CA414820085 | MT-ND5 | c.1580G>C (p.Gly527Ala) | |
MT | m.13916G= | CA2499568228 | MT-ND5 | c.1580G= (p.Gly527=) | |
MT | m.13916G>T | CA414820086 | MT-ND5 | c.1580G>T (p.Gly527Val) | |
MT | m.13917A= | CA2573325870 | MT-ND5 | c.1581A= (p.Gly527=) | |
MT | m.13917A>C | CA913171298 | MT-ND5 | c.1581A>C (p.Gly527=) | |
MT | m.13917A>G | CA913171297 | MT-ND5 | c.1581A>G (p.Gly527=) | |
MT | m.13917A>T | CA913171296 | MT-ND5 | c.1581A>T (p.Gly527=) | |
MT | m.13918T>A | CA414820089 | MT-ND5 | c.1582T>A (p.Phe528Ile) | |
MT | m.13918T>C | CA414820091 | MT-ND5 | c.1582T>C (p.Phe528Leu) | dbSNP |
MT | m.13918T>G | CA414820092 | MT-ND5 | c.1582T>G (p.Phe528Val) | |
MT | m.13918T= | CA2499568229 | MT-ND5 | c.1582T= (p.Phe528=) | |
MT | m.13919T>A | CA414820095 | MT-ND5 | c.1583T>A (p.Phe528Tyr) | ClinVar dbSNP |
MT | m.13919T>C | CA414820097 | MT-ND5 | c.1583T>C (p.Phe528Ser) | ClinVar dbSNP |
MT | m.13919T>G | CA414820099 | MT-ND5 | c.1583T>G (p.Phe528Cys) | |
MT | m.13919T= | CA2499568230 | MT-ND5 | c.1583T= (p.Phe528=) | |
MT | m.13920C>A | CA414820102 | MT-ND5 | c.1584C>A (p.Phe528Leu) | |
MT | m.13920C= | CA2499568231 | MT-ND5 | c.1584C= (p.Phe528=) | |
MT | m.13920C>G | CA414820103 | MT-ND5 | c.1584C>G (p.Phe528Leu) | |
MT | m.13920C>T | CA913171299 | MT-ND5 | c.1584C>T (p.Phe528=) | dbSNP |
MT | m.13921T>A | CA414820107 | MT-ND5 | c.1585T>A (p.Tyr529Asn) | |
MT | m.13921T>C | CA414820110 | MT-ND5 | c.1585T>C (p.Tyr529His) | |
MT | m.13921T>G | CA414820106 | MT-ND5 | c.1585T>G (p.Tyr529Asp) | |
MT | m.13921T= | CA2573325882 | MT-ND5 | c.1585T= (p.Tyr529=) | |
MT | m.13922A= | CA2573325885 | MT-ND5 | c.1586A= (p.Tyr529=) | |
MT | m.13922A>C | CA414820116 | MT-ND5 | c.1586A>C (p.Tyr529Ser) | |
MT | m.13922A>G | CA414820112 | MT-ND5 | c.1586A>G (p.Tyr529Cys) | |
MT | m.13922A>T | CA414820114 | MT-ND5 | c.1586A>T (p.Tyr529Phe) | |
MT | m.13923C>A | CA414820119 | MT-ND5 | c.1587C>A (p.Tyr529Ter) | |
MT | m.13923C= | CA2499568232 | MT-ND5 | c.1587C= (p.Tyr529=) | |
MT | m.13923C>G | CA414820120 | MT-ND5 | c.1587C>G (p.Tyr529Ter) | |
MT | m.13923C>T | CA337099848 | MT-ND5 | c.1587C>T (p.Tyr529=) | dbSNP |
MT | m.13924C>A | CA414820123 | MT-ND5 | c.1588C>A (p.Pro530Thr) | |
MT | m.13924C= | CA2499568233 | MT-ND5 | c.1588C= (p.Pro530=) | |
MT | m.13924C>G | CA414820125 | MT-ND5 | c.1588C>G (p.Pro530Ala) | |
MT | m.13924C>T | CA337099850 | MT-ND5 | c.1588C>T (p.Pro530Ser) | ClinVar dbSNP |
MT | m.13925C>A | CA414820129 | MT-ND5 | c.1589C>A (p.Pro530His) | |
MT | m.13925C= | CA2573325893 | MT-ND5 | c.1589C= (p.Pro530=) | |
MT | m.13925C>G | CA414820131 | MT-ND5 | c.1589C>G (p.Pro530Arg) | |
MT | m.13925C>T | CA414820132 | MT-ND5 | c.1589C>T (p.Pro530Leu) | |
MT | m.13926T>A | CA913171300 | MT-ND5 | c.1590T>A (p.Pro530=) | |
MT | m.13926T>C | CA10581324 | MT-ND5 | c.1590T>C (p.Pro530=) | ClinVar dbSNP |
MT | m.13926T>G | CA913171301 | MT-ND5 | c.1590T>G (p.Pro530=) | |
MT | m.13926T= | CA2499568234 | MT-ND5 | c.1590T= (p.Pro530=) | |
MT | m.13927A= | CA2573325899 | MT-ND5 | c.1591A= (p.Ser531=) | |
MT | m.13927A>C | CA414820139 | MT-ND5 | c.1591A>C (p.Ser531Arg) | |
MT | m.13927A>G | CA414820137 | MT-ND5 | c.1591A>G (p.Ser531Gly) | |
MT | m.13927A>T | CA414820136 | MT-ND5 | c.1591A>T (p.Ser531Cys) | dbSNP |
MT | m.13928G>A | CA337099854 | MT-ND5 | c.1592G>A (p.Ser531Asn) | ClinVar dbSNP |
MT | m.13928G>C | CA337099856 | MT-ND5 | c.1592G>C (p.Ser531Thr) | ClinVar dbSNP |
MT | m.13928G= | CA2499568235 | MT-ND5 | c.1592G= (p.Ser531=) | |
MT | m.13928G>T | CA414820143 | MT-ND5 | c.1592G>T (p.Ser531Ile) | dbSNP |
MT | m.13929C>A | CA414820146 | MT-ND5 | c.1593C>A (p.Ser531Arg) | |
MT | m.13929C= | CA2573325912 | MT-ND5 | c.1593C= (p.Ser531=) | |
MT | m.13929C>G | CA414820147 | MT-ND5 | c.1593C>G (p.Ser531Arg) | |
MT | m.13929C>T | CA913171302 | MT-ND5 | c.1593C>T (p.Ser531=) | |
MT | m.13930A= | CA2573325915 | MT-ND5 | c.1594A= (p.Ile532=) | |
MT | m.13930A>C | CA414820150 | MT-ND5 | c.1594A>C (p.Ile532Leu) | |
MT | m.13930A>G | CA414820152 | MT-ND5 | c.1594A>G (p.Ile532Val) | |
MT | m.13930A>T | CA414820153 | MT-ND5 | c.1594A>T (p.Ile532Phe) | |
MT | m.13931T>A | CA414820156 | MT-ND5 | c.1595T>A (p.Ile532Asn) | |
MT | m.13931T>C | CA414820158 | MT-ND5 | c.1595T>C (p.Ile532Thr) | |
MT | m.13931T>G | CA414820159 | MT-ND5 | c.1595T>G (p.Ile532Ser) | |
MT | m.13931T= | CA2573325919 | MT-ND5 | c.1595T= (p.Ile532=) | |
MT | m.13932C>A | CA913171303 | MT-ND5 | c.1596C>A (p.Ile532=) | |
MT | m.13932C= | CA2499568236 | MT-ND5 | c.1596C= (p.Ile532=) | |
MT | m.13932C>G | CA414820161 | MT-ND5 | c.1596C>G (p.Ile532Met) | |
MT | m.13932C>T | CA913171304 | MT-ND5 | c.1596C>T (p.Ile532=) | dbSNP |
MT | m.13937_13938dup | CA2573105286 | MT-ND5 | c.1601_1602dup (p.Arg535ThrfsTer7) | |
MT | m.13933A= | CA2499568237 | MT-ND5 | c.1597A= (p.Thr533=) | |
MT | m.13933A>C | CA414820163 | MT-ND5 | c.1597A>C (p.Thr533Pro) | |
MT | m.13933A>G | CA337099858 | MT-ND5 | c.1597A>G (p.Thr533Ala) | ClinVar dbSNP |
MT | m.13933A>T | CA414820165 | MT-ND5 | c.1597A>T (p.Thr533Ser) | |
MT | m.13934C>A | CA337099862 | MT-ND5 | c.1598C>A (p.Thr533Lys) | |
MT | m.13934C= | CA2499568238 | MT-ND5 | c.1598C= (p.Thr533=) | |
MT | m.13934C>G | CA337099860 | MT-ND5 | c.1598C>G (p.Thr533Arg) | |
MT | m.13934C>T | CA337099863 | MT-ND5 | c.1598C>T (p.Thr533Ile) | ClinVar dbSNP |
MT | m.13935A= | CA2573325934 | MT-ND5 | c.1599A= (p.Thr533=) | |
MT | m.13935A>C | CA913171305 | MT-ND5 | c.1599A>C (p.Thr533=) | |
MT | m.13935A>G | CA913171306 | MT-ND5 | c.1599A>G (p.Thr533=) | |
MT | m.13935A>T | CA913171307 | MT-ND5 | c.1599A>T (p.Thr533=) | |
MT | m.13936C>A | CA414820173 | MT-ND5 | c.1600C>A (p.His534Asn) | |
MT | m.13936C= | CA2573325940 | MT-ND5 | c.1600C= (p.His534=) | |
MT | m.13936C>G | CA414820174 | MT-ND5 | c.1600C>G (p.His534Asp) | |
MT | m.13936C>T | CA414820176 | MT-ND5 | c.1600C>T (p.His534Tyr) | |
MT | m.13937A= | CA2573325946 | MT-ND5 | c.1601A= (p.His534=) | |
MT | m.13937A>C | CA414820179 | MT-ND5 | c.1601A>C (p.His534Pro) | |
MT | m.13937A>G | CA414820180 | MT-ND5 | c.1601A>G (p.His534Arg) | |
MT | m.13937A>T | CA414820182 | MT-ND5 | c.1601A>T (p.His534Leu) | |
MT | m.13938C>A | CA414820185 | MT-ND5 | c.1602C>A (p.His534Gln) | |
MT | m.13938C= | CA2499568239 | MT-ND5 | c.1602C= (p.His534=) | |
MT | m.13938C>G | CA414820186 | MT-ND5 | c.1602C>G (p.His534Gln) | |
MT | m.13938C>T | CA337099865 | MT-ND5 | c.1602C>T (p.His534=) | dbSNP |
MT | m.13939C>A | CA414820189 | MT-ND5 | c.1603C>A (p.Arg535Ser) | |
MT | m.13939C= | CA2573325953 | MT-ND5 | c.1603C= (p.Arg535=) | |
MT | m.13939C>G | CA414820192 | MT-ND5 | c.1603C>G (p.Arg535Gly) | |
MT | m.13939C>T | CA414820190 | MT-ND5 | c.1603C>T (p.Arg535Cys) | |
MT | m.13940G>A | CA414820195 | MT-ND5 | c.1604G>A (p.Arg535His) | |
MT | m.13940G>C | CA414820196 | MT-ND5 | c.1604G>C (p.Arg535Pro) | |
MT | m.13940G= | CA2573325958 | MT-ND5 | c.1604G= (p.Arg535=) | |
MT | m.13940G>T | CA414820198 | MT-ND5 | c.1604G>T (p.Arg535Leu) | |
MT | m.13941C>A | CA913171310 | MT-ND5 | c.1605C>A (p.Arg535=) | |
MT | m.13941C= | CA2499568240 | MT-ND5 | c.1605C= (p.Arg535=) | |
MT | m.13941C>G | CA913171308 | MT-ND5 | c.1605C>G (p.Arg535=) | |
MT | m.13941C>T | CA913171309 | MT-ND5 | c.1605C>T (p.Arg535=) | dbSNP |
MT | m.13942A= | CA2499568241 | MT-ND5 | c.1606A= (p.Thr536=) | |
MT | m.13942A>C | CA414820200 | MT-ND5 | c.1606A>C (p.Thr536Pro) | |
MT | m.13942A>G | CA337099867 | MT-ND5 | c.1606A>G (p.Thr536Ala) | dbSNP |
MT | m.13942A>T | CA414820203 | MT-ND5 | c.1606A>T (p.Thr536Ser) | |
MT | m.13943C>A | CA414820205 | MT-ND5 | c.1607C>A (p.Thr536Lys) | |
MT | m.13943C= | CA2499568242 | MT-ND5 | c.1607C= (p.Thr536=) | |
MT | m.13943C>G | CA414820207 | MT-ND5 | c.1607C>G (p.Thr536Arg) | |
MT | m.13943C>T | CA414820209 | MT-ND5 | c.1607C>T (p.Thr536Ile) | ClinVar dbSNP |
MT | m.13944A= | CA2573325967 | MT-ND5 | c.1608A= (p.Thr536=) | |
MT | m.13944A>C | CA913171313 | MT-ND5 | c.1608A>C (p.Thr536=) | |
MT | m.13944A>G | CA913171312 | MT-ND5 | c.1608A>G (p.Thr536=) | |
MT | m.13944A>T | CA913171311 | MT-ND5 | c.1608A>T (p.Thr536=) | |
MT | m.13945A= | CA2499568243 | MT-ND5 | c.1609A= (p.Ile537=) | |
MT | m.13945A>C | CA414820213 | MT-ND5 | c.1609A>C (p.Ile537Leu) | |
MT | m.13945A>G | CA414820215 | MT-ND5 | c.1609A>G (p.Ile537Val) | dbSNP |
MT | m.13945A>T | CA414820211 | MT-ND5 | c.1609A>T (p.Ile537Phe) | |
MT | m.13946T>A | CA414820221 | MT-ND5 | c.1610T>A (p.Ile537Asn) | |
MT | m.13946T>C | CA414820217 | MT-ND5 | c.1610T>C (p.Ile537Thr) | ClinVar dbSNP |
MT | m.13946T>G | CA414820219 | MT-ND5 | c.1610T>G (p.Ile537Ser) | |
MT | m.13946T= | CA2499568244 | MT-ND5 | c.1610T= (p.Ile537=) | |
MT | m.13947C>A | CA913171315 | MT-ND5 | c.1611C>A (p.Ile537=) | |
MT | m.13947C= | CA2499568245 | MT-ND5 | c.1611C= (p.Ile537=) | |
MT | m.13947C>G | CA414820223 | MT-ND5 | c.1611C>G (p.Ile537Met) | |
MT | m.13947C>T | CA913171316 | MT-ND5 | c.1611C>T (p.Ile537=) | dbSNP |
MT | m.13948C>A | CA414820226 | MT-ND5 | c.1612C>A (p.Pro538Thr) | |
MT | m.13948C= | CA2499568246 | MT-ND5 | c.1612C= (p.Pro538=) | |
MT | m.13948C>G | CA414820228 | MT-ND5 | c.1612C>G (p.Pro538Ala) | |
MT | m.13948C>T | CA337099869 | MT-ND5 | c.1612C>T (p.Pro538Ser) | ClinVar dbSNP |
MT | m.13949C>A | CA414820232 | MT-ND5 | c.1613C>A (p.Pro538His) | |
MT | m.13949C= | CA2573325987 | MT-ND5 | c.1613C= (p.Pro538=) | |
MT | m.13949C>G | CA414820234 | MT-ND5 | c.1613C>G (p.Pro538Arg) | |
MT | m.13949C>T | CA414820235 | MT-ND5 | c.1613C>T (p.Pro538Leu) | |
MT | m.13950C>A | CA913171317 | MT-ND5 | c.1614C>A (p.Pro538=) | |
MT | m.13950C= | CA2573325990 | MT-ND5 | c.1614C= (p.Pro538=) | |
MT | m.13950C>G | CA913171318 | MT-ND5 | c.1614C>G (p.Pro538=) | |
MT | m.13950C>T | CA913171319 | MT-ND5 | c.1614C>T (p.Pro538=) | dbSNP |
MT | m.13951T>A | CA414820238 | MT-ND5 | c.1615T>A (p.Tyr539Asn) | |
MT | m.13951T>C | CA414820240 | MT-ND5 | c.1615T>C (p.Tyr539His) | |
MT | m.13951T>G | CA414820241 | MT-ND5 | c.1615T>G (p.Tyr539Asp) | |
MT | m.13951T= | CA2573325993 | MT-ND5 | c.1615T= (p.Tyr539=) |