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.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.10775_14941del | CA2740090229 | ClinVar | ||
MT | m.10950_15540del | CA2580102079 | ClinVar | ||
MT | m.11263_15374del | CA645373341 | ClinVar | ||
MT | m.12114_14420del | CA645373342 | ClinVar | ||
MT | m.12360_12365dup | CA2740098363 | MT-ND5 | c.24_29dup (p.Leu10_Thr11insThrLeu) | |
MT | m.12365_12366insGACCCT | CA2740098365 | MT-ND5 | c.29_30insGACCCT (p.Leu10_Thr11insThrLeu) | |
MT | m.12365_12366insTACCCT | CA2740098366 | MT-ND5 | c.29_30insTACCCT (p.Leu10_Thr11insThrLeu) | |
MT | m.12366_12367insGCCCTA | CA2740098368 | MT-ND5 | c.30_31insGCCCTA (p.Leu10_Thr11insAlaLeu) | |
MT | m.12364C>A | CA414812827 | MT-ND5 | c.28C>A (p.Leu10Ile) | |
MT | m.12364C= | CA2499567545 | MT-ND5 | c.28C= (p.Leu10=) | |
MT | m.12364C>G | CA414812828 | MT-ND5 | c.28C>G (p.Leu10Val) | |
MT | m.12364C>T | CA913170191 | MT-ND5 | c.28C>T (p.Leu10=) | dbSNP |
MT | m.12365T>A | CA414812831 | MT-ND5 | c.29T>A (p.Leu10Gln) | |
MT | m.12365T>C | CA414812833 | MT-ND5 | c.29T>C (p.Leu10Pro) | |
MT | m.12365T>G | CA414812834 | MT-ND5 | c.29T>G (p.Leu10Arg) | |
MT | m.12365T= | CA2573329388 | MT-ND5 | c.29T= (p.Leu10=) | |
MT | m.12372_12414del | CA2740098370 | MT-ND5 | c.36_78del (p.Ser14LysfsTer9) | |
MT | m.12366A= | CA2499567546 | MT-ND5 | c.30A= (p.Leu10=) | |
MT | m.12366A>C | CA913170193 | MT-ND5 | c.30A>C (p.Leu10=) | |
MT | m.12366A>G | CA913170195 | MT-ND5 | c.30A>G (p.Leu10=) | dbSNP |
MT | m.12366A>T | CA913170197 | MT-ND5 | c.30A>T (p.Leu10=) | |
MT | m.12367A= | CA2499567547 | MT-ND5 | c.31A= (p.Thr11=) | |
MT | m.12367A>C | CA414812837 | MT-ND5 | c.31A>C (p.Thr11Pro) | |
MT | m.12367A>G | CA414812839 | MT-ND5 | c.31A>G (p.Thr11Ala) | ClinVar dbSNP |
MT | m.12367A>T | CA414812841 | MT-ND5 | c.31A>T (p.Thr11Ser) | |
MT | m.12369_12374dup | CA2740098371 | MT-ND5 | c.33_38dup (p.Thr13_Ser14insLeuThr) | |
MT | m.12368C>A | CA414812843 | MT-ND5 | c.32C>A (p.Thr11Asn) | |
MT | m.12368C= | CA2573329395 | MT-ND5 | c.32C= (p.Thr11=) | |
MT | m.12368C>G | CA414812845 | MT-ND5 | c.32C>G (p.Thr11Ser) | |
MT | m.12368C>T | CA414812847 | MT-ND5 | c.32C>T (p.Thr11Ile) | |
MT | m.12369C>A | CA913170201 | MT-ND5 | c.33C>A (p.Thr11=) | |
MT | m.12369C= | CA2573329396 | MT-ND5 | c.33C= (p.Thr11=) | |
MT | m.12369C>G | CA913170200 | MT-ND5 | c.33C>G (p.Thr11=) | |
MT | m.12369C>T | CA913170199 | MT-ND5 | c.33C>T (p.Thr11=) | |
MT | m.12370C>A | CA414812849 | MT-ND5 | c.34C>A (p.Leu12Met) | |
MT | m.12370C= | CA2499567548 | MT-ND5 | c.34C= (p.Leu12=) | |
MT | m.12370C>G | CA414812850 | MT-ND5 | c.34C>G (p.Leu12Val) | |
MT | m.12370C>T | CA913170202 | MT-ND5 | c.34C>T (p.Leu12=) | dbSNP |
MT | m.12371T>A | CA414812852 | MT-ND5 | c.35T>A (p.Leu12Gln) | |
MT | m.12371T>C | CA414812856 | MT-ND5 | c.35T>C (p.Leu12Pro) | |
MT | m.12371T>G | CA414812854 | MT-ND5 | c.35T>G (p.Leu12Arg) | dbSNP |
MT | m.12371T= | CA2499567549 | MT-ND5 | c.35T= (p.Leu12=) | |
MT | m.12372G>A | CA337099467 | MT-ND5 | c.36G>A (p.Leu12=) | ClinVar dbSNP |
MT | m.12372G>C | CA337099466 | MT-ND5 | c.36G>C (p.Leu12=) | |
MT | m.12372G= | CA2499567550 | MT-ND5 | c.36G= (p.Leu12=) | |
MT | m.12372G>T | CA337099464 | MT-ND5 | c.36G>T (p.Leu12=) | |
MT | m.12373A= | CA2499567551 | MT-ND5 | c.37A= (p.Thr13=) | |
MT | m.12373A>C | CA414812863 | MT-ND5 | c.37A>C (p.Thr13Pro) | |
MT | m.12373A>G | CA414812865 | MT-ND5 | c.37A>G (p.Thr13Ala) | ClinVar dbSNP |
MT | m.12373A>T | CA414812866 | MT-ND5 | c.37A>T (p.Thr13Ser) | |
MT | m.12374C>A | CA414812869 | MT-ND5 | c.38C>A (p.Thr13Asn) | |
MT | m.12374C= | CA2573329407 | MT-ND5 | c.38C= (p.Thr13=) | |
MT | m.12374C>G | CA414812870 | MT-ND5 | c.38C>G (p.Thr13Ser) | |
MT | m.12374C>T | CA414812872 | MT-ND5 | c.38C>T (p.Thr13Ile) | dbSNP |
MT | m.12375T>A | CA913170208 | MT-ND5 | c.39T>A (p.Thr13=) | |
MT | m.12375T>C | CA913170207 | MT-ND5 | c.39T>C (p.Thr13=) | dbSNP |
MT | m.12375T>G | CA913170206 | MT-ND5 | c.39T>G (p.Thr13=) | |
MT | m.12375T= | CA2499567552 | MT-ND5 | c.39T= (p.Thr13=) | |
MT | m.12376T>A | CA414812875 | MT-ND5 | c.40T>A (p.Ser14Thr) | |
MT | m.12376T>C | CA414812876 | MT-ND5 | c.40T>C (p.Ser14Pro) | |
MT | m.12376T>G | CA414812877 | MT-ND5 | c.40T>G (p.Ser14Ala) | |
MT | m.12376T= | CA2573329411 | MT-ND5 | c.40T= (p.Ser14=) | |
MT | m.12377C>A | CA414812880 | MT-ND5 | c.41C>A (p.Ser14Tyr) | |
MT | m.12377C= | CA2573329413 | MT-ND5 | c.41C= (p.Ser14=) | |
MT | m.12377C>G | CA414812884 | MT-ND5 | c.41C>G (p.Ser14Cys) | |
MT | m.12377C>T | CA414812882 | MT-ND5 | c.41C>T (p.Ser14Phe) | |
MT | m.12378C>A | CA913170211 | MT-ND5 | c.42C>A (p.Ser14=) | |
MT | m.12378C= | CA2499567553 | MT-ND5 | c.42C= (p.Ser14=) | |
MT | m.12378C>G | CA913170212 | MT-ND5 | c.42C>G (p.Ser14=) | |
MT | m.12378C>T | CA913170213 | MT-ND5 | c.42C>T (p.Ser14=) | dbSNP |
MT | m.12379C>A | CA414812887 | MT-ND5 | c.43C>A (p.Leu15Ile) | |
MT | m.12379C= | CA2499567554 | MT-ND5 | c.43C= (p.Leu15=) | |
MT | m.12379C>G | CA414812888 | MT-ND5 | c.43C>G (p.Leu15Val) | |
MT | m.12379C>T | CA913170214 | MT-ND5 | c.43C>T (p.Leu15=) | dbSNP |
MT | m.12380T>A | CA414812891 | MT-ND5 | c.44T>A (p.Leu15Gln) | |
MT | m.12380T>C | CA414812893 | MT-ND5 | c.44T>C (p.Leu15Pro) | |
MT | m.12380T>G | CA414812894 | MT-ND5 | c.44T>G (p.Leu15Arg) | |
MT | m.12380T= | CA2573329415 | MT-ND5 | c.44T= (p.Leu15=) | |
MT | m.12380_12384del | CA2573105236 | MT-ND5 | c.44_48del (p.Leu15ProfsTer9) | |
MT | m.12381A= | CA2499567555 | MT-ND5 | c.45A= (p.Leu15=) | |
MT | m.12381A>C | CA913170216 | MT-ND5 | c.45A>C (p.Leu15=) | |
MT | m.12381A>G | CA913170220 | MT-ND5 | c.45A>G (p.Leu15=) | dbSNP |
MT | m.12381A>T | CA913170218 | MT-ND5 | c.45A>T (p.Leu15=) | |
MT | m.12382del | CA2844602420 | MT-ND5 | c.46del (p.Ile16PhefsTer21) | |
MT | m.12382A= | CA2499567556 | MT-ND5 | c.46A= (p.Ile16=) | |
MT | m.12382A>C | CA414812897 | MT-ND5 | c.46A>C (p.Ile16Leu) | |
MT | m.12382A>G | CA414812899 | MT-ND5 | c.46A>G (p.Ile16Val) | ClinVar dbSNP |
MT | m.12382A>T | CA414812900 | MT-ND5 | c.46A>T (p.Ile16Phe) | |
MT | m.12383T>A | CA414812906 | MT-ND5 | c.47T>A (p.Ile16Asn) | |
MT | m.12383T>C | CA414812905 | MT-ND5 | c.47T>C (p.Ile16Thr) | ClinVar dbSNP |
MT | m.12383T>G | CA414812904 | MT-ND5 | c.47T>G (p.Ile16Ser) | |
MT | m.12383T= | CA2499567557 | MT-ND5 | c.47T= (p.Ile16=) | |
MT | m.12384dup | CA2844602436 | MT-ND5 | c.48dup (p.Pro17SerfsTer9) | |
MT | m.12384T>A | CA913170221 | MT-ND5 | c.48T>A (p.Ile16=) | |
MT | m.12384T>C | CA913170222 | MT-ND5 | c.48T>C (p.Ile16=) | dbSNP |
MT | m.12384T>G | CA414812909 | MT-ND5 | c.48T>G (p.Ile16Met) | |
MT | m.12384T= | CA2499567558 | MT-ND5 | c.48T= (p.Ile16=) | |
MT | m.12385C>A | CA414812914 | MT-ND5 | c.49C>A (p.Pro17Thr) | |
MT | m.12385C= | CA2573329423 | MT-ND5 | c.49C= (p.Pro17=) | |
MT | m.12385C>G | CA414812911 | MT-ND5 | c.49C>G (p.Pro17Ala) | |
MT | m.12385C>T | CA414812912 | MT-ND5 | c.49C>T (p.Pro17Ser) | |
MT | m.12390dup | CA2573105237 | MT-ND5 | c.54dup (p.Ile19HisfsTer7) | |
MT | m.12390del | CA2573105238 | MT-ND5 | c.54del (p.Ile19SerfsTer18) | |
MT | m.12386C>A | CA414812917 | MT-ND5 | c.50C>A (p.Pro17His) | |
MT | m.12386C= | CA2499567559 | MT-ND5 | c.50C= (p.Pro17=) | |
MT | m.12386C>G | CA414812918 | MT-ND5 | c.50C>G (p.Pro17Arg) | |
MT | m.12386C>T | CA414812920 | MT-ND5 | c.50C>T (p.Pro17Leu) | ClinVar dbSNP |
MT | m.12387C>A | CA913170223 | MT-ND5 | c.51C>A (p.Pro17=) | |
MT | m.12387C= | CA2499567560 | MT-ND5 | c.51C= (p.Pro17=) | |
MT | m.12387C>G | CA913170224 | MT-ND5 | c.51C>G (p.Pro17=) | |
MT | m.12387C>T | CA913170225 | MT-ND5 | c.51C>T (p.Pro17=) | dbSNP |
MT | m.12388C>A | CA414812922 | MT-ND5 | c.52C>A (p.Pro18Thr) | |
MT | m.12388C= | CA2573329427 | MT-ND5 | c.52C= (p.Pro18=) | |
MT | m.12388C>G | CA414812923 | MT-ND5 | c.52C>G (p.Pro18Ala) | |
MT | m.12388C>T | CA414812925 | MT-ND5 | c.52C>T (p.Pro18Ser) | |
MT | m.12389C>A | CA414812928 | MT-ND5 | c.53C>A (p.Pro18His) | |
MT | m.12389C= | CA2499567561 | MT-ND5 | c.53C= (p.Pro18=) | |
MT | m.12389C>G | CA414812929 | MT-ND5 | c.53C>G (p.Pro18Arg) | |
MT | m.12389C>T | CA414812931 | MT-ND5 | c.53C>T (p.Pro18Leu) | ClinVar dbSNP |
MT | m.12390C>A | CA913170229 | MT-ND5 | c.54C>A (p.Pro18=) | |
MT | m.12390C= | CA2499567562 | MT-ND5 | c.54C= (p.Pro18=) | |
MT | m.12390C>G | CA913170227 | MT-ND5 | c.54C>G (p.Pro18=) | |
MT | m.12390C>T | CA913170228 | MT-ND5 | c.54C>T (p.Pro18=) | dbSNP |
MT | m.12391A= | CA2573329432 | MT-ND5 | c.55A= (p.Ile19=) | |
MT | m.12391A>C | CA414812938 | MT-ND5 | c.55A>C (p.Ile19Leu) | |
MT | m.12391A>G | CA414812934 | MT-ND5 | c.55A>G (p.Ile19Val) | |
MT | m.12391A>T | CA414812936 | MT-ND5 | c.55A>T (p.Ile19Phe) | |
MT | m.12391_12397del | CA2573105239 | MT-ND5 | c.55_61del (p.Ile19ProfsTer16) | |
MT | m.12392T>A | CA414812940 | MT-ND5 | c.56T>A (p.Ile19Asn) | |
MT | m.12392T>C | CA414812942 | MT-ND5 | c.56T>C (p.Ile19Thr) | dbSNP |
MT | m.12392T>G | CA414812944 | MT-ND5 | c.56T>G (p.Ile19Ser) | |
MT | m.12392T= | CA2499567563 | MT-ND5 | c.56T= (p.Ile19=) | |
MT | m.12393C>A | CA913170233 | MT-ND5 | c.57C>A (p.Ile19=) | |
MT | m.12393C= | CA2573329435 | MT-ND5 | c.57C= (p.Ile19=) | |
MT | m.12393C>G | CA414812946 | MT-ND5 | c.57C>G (p.Ile19Met) | |
MT | m.12393C>T | CA913170232 | MT-ND5 | c.57C>T (p.Ile19=) | dbSNP |
MT | m.12394C>A | CA414812949 | MT-ND5 | c.58C>A (p.Leu20Ile) | |
MT | m.12394C= | CA2499567564 | MT-ND5 | c.58C= (p.Leu20=) | |
MT | m.12394C>G | CA414812950 | MT-ND5 | c.58C>G (p.Leu20Val) | |
MT | m.12394C>T | CA337099470 | MT-ND5 | c.58C>T (p.Leu20Phe) | dbSNP |
MT | m.12395T>A | CA414812953 | MT-ND5 | c.59T>A (p.Leu20His) | |
MT | m.12395T>C | CA414812954 | MT-ND5 | c.59T>C (p.Leu20Pro) | |
MT | m.12395T>G | CA414812957 | MT-ND5 | c.59T>G (p.Leu20Arg) | dbSNP |
MT | m.12395T= | CA2499567565 | MT-ND5 | c.59T= (p.Leu20=) | |
MT | m.12396T>A | CA414812961 | MT-ND5 | c.60T>A (p.Leu20=) | |
MT | m.12396T>C | CA913170234 | MT-ND5 | c.60T>C (p.Leu20=) | dbSNP |
MT | m.12396T>G | CA414812959 | MT-ND5 | c.60T>G (p.Leu20=) | |
MT | m.12396T= | CA2499567566 | MT-ND5 | c.60T= (p.Leu20=) | |
MT | m.12397A= | CA2499567567 | MT-ND5 | c.61A= (p.Thr21=) | |
MT | m.12397A>C | CA414812963 | MT-ND5 | c.61A>C (p.Thr21Pro) | |
MT | m.12397A>G | CA254856 | MT-ND5 | c.61A>G (p.Thr21Ala) | ClinVar dbSNP |
MT | m.12397A>T | CA414812966 | MT-ND5 | c.61A>T (p.Thr21Ser) | |
MT | m.12398C>A | CA414812968 | MT-ND5 | c.62C>A (p.Thr21Asn) | |
MT | m.12398C= | CA2499567568 | MT-ND5 | c.62C= (p.Thr21=) | |
MT | m.12398C>G | CA414812970 | MT-ND5 | c.62C>G (p.Thr21Ser) | |
MT | m.12398C>T | CA414812972 | MT-ND5 | c.62C>T (p.Thr21Ile) | dbSNP |
MT | m.12399C>A | CA913170239 | MT-ND5 | c.63C>A (p.Thr21=) | |
MT | m.12399C= | CA2573329440 | MT-ND5 | c.63C= (p.Thr21=) | |
MT | m.12399C>G | CA913170240 | MT-ND5 | c.63C>G (p.Thr21=) | |
MT | m.12399C>T | CA913170241 | MT-ND5 | c.63C>T (p.Thr21=) | |
MT | m.12400A= | CA2499567569 | MT-ND5 | c.64A= (p.Thr22=) | |
MT | m.12400A>C | CA414812974 | MT-ND5 | c.64A>C (p.Thr22Pro) | |
MT | m.12400A>G | CA337099473 | MT-ND5 | c.64A>G (p.Thr22Ala) | ClinVar dbSNP |
MT | m.12400A>T | CA414812977 | MT-ND5 | c.64A>T (p.Thr22Ser) | |
MT | m.12401C>A | CA414812980 | MT-ND5 | c.65C>A (p.Thr22Asn) | |
MT | m.12401C= | CA2499567570 | MT-ND5 | c.65C= (p.Thr22=) | |
MT | m.12401C>G | CA414812982 | MT-ND5 | c.65C>G (p.Thr22Ser) | |
MT | m.12401C>T | CA414812983 | MT-ND5 | c.65C>T (p.Thr22Ile) | ClinVar dbSNP |
MT | m.12403del | CA2844602501 | MT-ND5 | c.67del (p.Leu23SerfsTer14) | |
MT | m.12402C>A | CA913170246 | MT-ND5 | c.66C>A (p.Thr22=) | |
MT | m.12402C= | CA2573329445 | MT-ND5 | c.66C= (p.Thr22=) | |
MT | m.12402C>G | CA913170245 | MT-ND5 | c.66C>G (p.Thr22=) | |
MT | m.12402C>T | CA913170244 | MT-ND5 | c.66C>T (p.Thr22=) | |
MT | m.12403C>A | CA414812988 | MT-ND5 | c.67C>A (p.Leu23Ile) | |
MT | m.12403C= | CA2499567571 | MT-ND5 | c.67C= (p.Leu23=) | |
MT | m.12403C>G | CA414812986 | MT-ND5 | c.67C>G (p.Leu23Val) | |
MT | m.12403C>T | CA337099475 | MT-ND5 | c.67C>T (p.Leu23Phe) | ClinVar dbSNP |
MT | m.12404T>A | CA414812991 | MT-ND5 | c.68T>A (p.Leu23His) | |
MT | m.12404T>C | CA414812993 | MT-ND5 | c.68T>C (p.Leu23Pro) | |
MT | m.12404T>G | CA414812994 | MT-ND5 | c.68T>G (p.Leu23Arg) | |
MT | m.12404T= | CA2513183776 | MT-ND5 | c.68T= (p.Leu23=) | |
MT | m.12405C>A | CA913170250 | MT-ND5 | c.69C>A (p.Leu23=) | |
MT | m.12405C= | CA2499567572 | MT-ND5 | c.69C= (p.Leu23=) | |
MT | m.12405C>G | CA913170252 | MT-ND5 | c.69C>G (p.Leu23=) | |
MT | m.12405C>T | CA913170253 | MT-ND5 | c.69C>T (p.Leu23=) | dbSNP |
MT | m.12406G>A | CA337099477 | MT-ND5 | c.70G>A (p.Val24Ile) | ClinVar dbSNP |
MT | m.12406G>C | CA414812997 | MT-ND5 | c.70G>C (p.Val24Leu) | |
MT | m.12406G= | CA2499567573 | MT-ND5 | c.70G= (p.Val24=) | |
MT | m.12406G>T | CA414812999 | MT-ND5 | c.70G>T (p.Val24Phe) | |
MT | m.12407T>A | CA414813002 | MT-ND5 | c.71T>A (p.Val24Asp) | |
MT | m.12407T>C | CA414813004 | MT-ND5 | c.71T>C (p.Val24Ala) | |
MT | m.12407T>G | CA414813006 | MT-ND5 | c.71T>G (p.Val24Gly) | |
MT | m.12407T= | CA2573329451 | MT-ND5 | c.71T= (p.Val24=) | |
MT | m.12408T>A | CA337099480 | MT-ND5 | c.72T>A (p.Val24=) | dbSNP |
MT | m.12408T>C | CA913170254 | MT-ND5 | c.72T>C (p.Val24=) | dbSNP |
MT | m.12408T>G | CA337099481 | MT-ND5 | c.72T>G (p.Val24=) | |
MT | m.12408T= | CA2499567574 | MT-ND5 | c.72T= (p.Val24=) | |
MT | m.12409A= | CA2573329454 | MT-ND5 | c.73A= (p.Asn25=) | |
MT | m.12409A>C | CA414813012 | MT-ND5 | c.73A>C (p.Asn25His) | |
MT | m.12409A>G | CA414813014 | MT-ND5 | c.73A>G (p.Asn25Asp) | |
MT | m.12409A>T | CA414813010 | MT-ND5 | c.73A>T (p.Asn25Tyr) | |
MT | m.12410A= | CA2499567575 | MT-ND5 | c.74A= (p.Asn25=) | |
MT | m.12410A>C | CA414813016 | MT-ND5 | c.74A>C (p.Asn25Thr) | |
MT | m.12410A>G | CA414813018 | MT-ND5 | c.74A>G (p.Asn25Ser) | ClinVar dbSNP |
MT | m.12410A>T | CA414813020 | MT-ND5 | c.74A>T (p.Asn25Ile) | |
MT | m.12411C>A | CA414813022 | MT-ND5 | c.75C>A (p.Asn25Lys) | |
MT | m.12411C= | CA2499567576 | MT-ND5 | c.75C= (p.Asn25=) | |
MT | m.12411C>G | CA414813024 | MT-ND5 | c.75C>G (p.Asn25Lys) | |
MT | m.12411C>T | CA913170256 | MT-ND5 | c.75C>T (p.Asn25=) | dbSNP |
MT | m.12412C>A | CA414813027 | MT-ND5 | c.76C>A (p.Pro26Thr) | |
MT | m.12412C= | CA2573329456 | MT-ND5 | c.76C= (p.Pro26=) | |
MT | m.12412C>G | CA414813028 | MT-ND5 | c.76C>G (p.Pro26Ala) | |
MT | m.12412C>T | CA414813030 | MT-ND5 | c.76C>T (p.Pro26Ser) | |
MT | m.12413C>A | CA414813032 | MT-ND5 | c.77C>A (p.Pro26His) | |
MT | m.12413C= | CA2513089582 | MT-ND5 | c.77C= (p.Pro26=) | |
MT | m.12413C>G | CA414813034 | MT-ND5 | c.77C>G (p.Pro26Arg) | |
MT | m.12413C>T | CA414813035 | MT-ND5 | c.77C>T (p.Pro26Leu) | |
MT | m.12414T>A | CA913170257 | MT-ND5 | c.78T>A (p.Pro26=) | |
MT | m.12414T>C | CA337099483 | MT-ND5 | c.78T>C (p.Pro26=) | dbSNP |
MT | m.12414T>G | CA913170258 | MT-ND5 | c.78T>G (p.Pro26=) | |
MT | m.12414T= | CA2499567577 | MT-ND5 | c.78T= (p.Pro26=) | |
MT | m.12415A= | CA2573329459 | MT-ND5 | c.79A= (p.Asn27=) | |
MT | m.12415A>C | CA414813043 | MT-ND5 | c.79A>C (p.Asn27His) | |
MT | m.12415A>G | CA414813042 | MT-ND5 | c.79A>G (p.Asn27Asp) | dbSNP |
MT | m.12415A>T | CA414813040 | MT-ND5 | c.79A>T (p.Asn27Tyr) | |
MT | m.12416A= | CA2573329461 | MT-ND5 | c.80A= (p.Asn27=) | |
MT | m.12416A>C | CA414813046 | MT-ND5 | c.80A>C (p.Asn27Thr) | |
MT | m.12416A>G | CA414813048 | MT-ND5 | c.80A>G (p.Asn27Ser) | |
MT | m.12416A>T | CA414813049 | MT-ND5 | c.80A>T (p.Asn27Ile) | |
MT | m.12417C>A | CA414813052 | MT-ND5 | c.81C>A (p.Asn27Lys) | dbSNP |
MT | m.12417C= | CA2499567578 | MT-ND5 | c.81C= (p.Asn27=) | |
MT | m.12417C>G | CA414813053 | MT-ND5 | c.81C>G (p.Asn27Lys) | |
MT | m.12417C>T | CA913170262 | MT-ND5 | c.81C>T (p.Asn27=) | dbSNP |
MT | m.12417_12418delinsCA | CA2499567579 | MT-ND5 | c.81_82delinsCA (p.Asn27=) | |
MT | m.12418A= | CA2573329464 | MT-ND5 | c.82A= (p.Lys28=) | |
MT | m.12418A>C | CA414813056 | MT-ND5 | c.82A>C (p.Lys28Gln) | |
MT | m.12418A>G | CA414813057 | MT-ND5 | c.82A>G (p.Lys28Glu) | |
MT | m.12418A>T | CA414813059 | MT-ND5 | c.82A>T (p.Lys28Ter) | |
MT | m.12425dup | CA920603152 | MT-ND5 | c.89dup (p.Asn30LysfsTer?) | dbSNP |
MT | m.12424_12425dup | CA2844602552 | MT-ND5 | c.88_89dup (p.Asn30LysfsTer8) | |
MT | m.12425del | CA915952147 | MT-ND5 | c.89del (p.Asn30ThrfsTer7) | ClinVar dbSNP |
MT | m.12419A= | CA2573329465 | MT-ND5 | c.83A= (p.Lys28=) | |
MT | m.12419A>C | CA414813061 | MT-ND5 | c.83A>C (p.Lys28Thr) | |
MT | m.12419A>G | CA414813063 | MT-ND5 | c.83A>G (p.Lys28Arg) | |
MT | m.12419A>T | CA414813065 | MT-ND5 | c.83A>T (p.Lys28Ile) | |
MT | m.12420A= | CA2573329467 | MT-ND5 | c.84A= (p.Lys28=) | |
MT | m.12420A>C | CA414813068 | MT-ND5 | c.84A>C (p.Lys28Asn) | |
MT | m.12420A>G | CA913170264 | MT-ND5 | c.84A>G (p.Lys28=) | |
MT | m.12420A>T | CA414813069 | MT-ND5 | c.84A>T (p.Lys28Asn) | |
MT | m.12421A= | CA2573329468 | MT-ND5 | c.85A= (p.Lys29=) | |
MT | m.12421A>C | CA414813074 | MT-ND5 | c.85A>C (p.Lys29Gln) | |
MT | m.12421A>G | CA414813075 | MT-ND5 | c.85A>G (p.Lys29Glu) | |
MT | m.12421A>T | CA414813072 | MT-ND5 | c.85A>T (p.Lys29Ter) | |
MT | m.12422A= | CA2573329469 | MT-ND5 | c.86A= (p.Lys29=) | |
MT | m.12422A>C | CA414813077 | MT-ND5 | c.86A>C (p.Lys29Thr) | |
MT | m.12422A>G | CA414813079 | MT-ND5 | c.86A>G (p.Lys29Arg) | |
MT | m.12422A>T | CA414813081 | MT-ND5 | c.86A>T (p.Lys29Ile) | |
MT | m.12423A= | CA2499567580 | MT-ND5 | c.87A= (p.Lys29=) | |
MT | m.12423A>C | CA414813083 | MT-ND5 | c.87A>C (p.Lys29Asn) | |
MT | m.12423A>G | CA913170268 | MT-ND5 | c.87A>G (p.Lys29=) | dbSNP |
MT | m.12423A>T | CA414813085 | MT-ND5 | c.87A>T (p.Lys29Asn) | |
MT | m.12424A= | CA2499567581 | MT-ND5 | c.88A= (p.Asn30=) | |
MT | m.12424A>C | CA414813087 | MT-ND5 | c.88A>C (p.Asn30His) | |
MT | m.12424A>G | CA414813089 | MT-ND5 | c.88A>G (p.Asn30Asp) | ClinVar dbSNP |
MT | m.12424A>T | CA414813091 | MT-ND5 | c.88A>T (p.Asn30Tyr) | |
MT | m.12425_12426insACACCAAACACACCCAA | CA2844602567 | MT-ND5 | c.89_90insACACCAAACACACCCAA (p.Asn30LysfsTer13) | |
MT | m.12426_12427insAACCCAAACACACCCAAC | CA2844602568 | MT-ND5 | c.90_91insAACCCAAACACACCCAAC (p.Asn30_Ser31insAsnProAsnThrProAsn) | |
MT | m.12425A= | CA2499567582 | MT-ND5 | c.89A= (p.Asn30=) | |
MT | m.12425A>C | CA414813093 | MT-ND5 | c.89A>C (p.Asn30Thr) | |
MT | m.12425A>G | CA414813095 | MT-ND5 | c.89A>G (p.Asn30Ser) | ClinVar dbSNP |
MT | m.12425A>T | CA414813097 | MT-ND5 | c.89A>T (p.Asn30Ile) | |
MT | m.12426C>A | CA414813102 | MT-ND5 | c.90C>A (p.Asn30Lys) | ClinVar dbSNP |
MT | m.12426C= | CA2499567583 | MT-ND5 | c.90C= (p.Asn30=) | |
MT | m.12426C>G | CA337099487 | MT-ND5 | c.90C>G (p.Asn30Lys) | |
MT | m.12426C>T | CA337099485 | MT-ND5 | c.90C>T (p.Asn30=) | |
MT | m.12427T>A | CA414813105 | MT-ND5 | c.91T>A (p.Ser31Thr) | |
MT | m.12427T>C | CA414813106 | MT-ND5 | c.91T>C (p.Ser31Pro) | dbSNP |
MT | m.12427T>G | CA414813107 | MT-ND5 | c.91T>G (p.Ser31Ala) | |
MT | m.12427T= | CA2499567584 | MT-ND5 | c.91T= (p.Ser31=) | |
MT | m.12428C>A | CA414813111 | MT-ND5 | c.92C>A (p.Ser31Ter) | |
MT | m.12428C= | CA2573329479 | MT-ND5 | c.92C= (p.Ser31=) | |
MT | m.12428C>G | CA414813112 | MT-ND5 | c.92C>G (p.Ser31Ter) | |
MT | m.12428C>T | CA414813114 | MT-ND5 | c.92C>T (p.Ser31Leu) | |
MT | m.12429A= | CA2499567585 | MT-ND5 | c.93A= (p.Ser31=) | |
MT | m.12429A>C | CA913170269 | MT-ND5 | c.93A>C (p.Ser31=) | |
MT | m.12429A>G | CA913170270 | MT-ND5 | c.93A>G (p.Ser31=) | dbSNP |
MT | m.12429A>T | CA913170274 | MT-ND5 | c.93A>T (p.Ser31=) | |
MT | m.12430T>A | CA414813116 | MT-ND5 | c.94T>A (p.Tyr32Asn) | |
MT | m.12430T>C | CA414813118 | MT-ND5 | c.94T>C (p.Tyr32His) | |
MT | m.12430T>G | CA414813119 | MT-ND5 | c.94T>G (p.Tyr32Asp) | |
MT | m.12430T= | CA2573329483 | MT-ND5 | c.94T= (p.Tyr32=) | |
MT | m.12431A= | CA2573329484 | MT-ND5 | c.95A= (p.Tyr32=) | |
MT | m.12431A>C | CA414813122 | MT-ND5 | c.95A>C (p.Tyr32Ser) | |
MT | m.12431A>G | CA414813124 | MT-ND5 | c.95A>G (p.Tyr32Cys) | |
MT | m.12431A>T | CA414813125 | MT-ND5 | c.95A>T (p.Tyr32Phe) | |
MT | m.12432C>A | CA414813128 | MT-ND5 | c.96C>A (p.Tyr32Ter) | |
MT | m.12432C= | CA2499567586 | MT-ND5 | c.96C= (p.Tyr32=) | |
MT | m.12432C>G | CA414813130 | MT-ND5 | c.96C>G (p.Tyr32Ter) | |
MT | m.12432C>T | CA10581323 | MT-ND5 | c.96C>T (p.Tyr32=) | ClinVar dbSNP |
MT | m.12436dup | CA2740098377 | MT-ND5 | c.100dup (p.His34ProfsTer?) | |
MT | m.12436del | CA2739234597 | MT-ND5 | c.100del (p.His34IlefsTer3) | dbSNP |
MT | m.12433C>A | CA414813133 | MT-ND5 | c.97C>A (p.Pro33Thr) | |
MT | m.12433C= | CA2573329487 | MT-ND5 | c.97C= (p.Pro33=) | |
MT | m.12433C>G | CA414813134 | MT-ND5 | c.97C>G (p.Pro33Ala) | |
MT | m.12433C>T | CA414813136 | MT-ND5 | c.97C>T (p.Pro33Ser) | |
MT | m.12434C>A | CA414813138 | MT-ND5 | c.98C>A (p.Pro33His) | |
MT | m.12434C= | CA2573329489 | MT-ND5 | c.98C= (p.Pro33=) | |
MT | m.12434C>G | CA414813140 | MT-ND5 | c.98C>G (p.Pro33Arg) | |
MT | m.12434C>T | CA414813142 | MT-ND5 | c.98C>T (p.Pro33Leu) | |
MT | m.12435C>A | CA913170277 | MT-ND5 | c.99C>A (p.Pro33=) | |
MT | m.12435C= | CA2573329491 | MT-ND5 | c.99C= (p.Pro33=) | |
MT | m.12435C>G | CA913170278 | MT-ND5 | c.99C>G (p.Pro33=) | |
MT | m.12435C>T | CA913170279 | MT-ND5 | c.99C>T (p.Pro33=) | |
MT | m.12436C>A | CA414813148 | MT-ND5 | c.100C>A (p.His34Asn) | |
MT | m.12436C= | CA2499567587 | MT-ND5 | c.100C= (p.His34=) | |
MT | m.12436C>G | CA414813144 | MT-ND5 | c.100C>G (p.His34Asp) | |
MT | m.12436C>T | CA414813146 | MT-ND5 | c.100C>T (p.His34Tyr) | ClinVar dbSNP |
MT | m.12437A= | CA2499567588 | MT-ND5 | c.101A= (p.His34=) | |
MT | m.12437A>C | CA414813151 | MT-ND5 | c.101A>C (p.His34Pro) | |
MT | m.12437A>G | CA414813153 | MT-ND5 | c.101A>G (p.His34Arg) | ClinVar dbSNP |
MT | m.12437A>T | CA414813155 | MT-ND5 | c.101A>T (p.His34Leu) | |
MT | m.12438T>A | CA414813158 | MT-ND5 | c.102T>A (p.His34Gln) | dbSNP |
MT | m.12438T>C | CA913170280 | MT-ND5 | c.102T>C (p.His34=) | dbSNP |
MT | m.12438T>G | CA414813159 | MT-ND5 | c.102T>G (p.His34Gln) | |
MT | m.12438T= | CA2499567589 | MT-ND5 | c.102T= (p.His34=) | |
MT | m.12439T>A | CA414813161 | MT-ND5 | c.103T>A (p.Tyr35Asn) | |
MT | m.12439T>C | CA414813165 | MT-ND5 | c.103T>C (p.Tyr35His) | dbSNP |
MT | m.12439T>G | CA414813163 | MT-ND5 | c.103T>G (p.Tyr35Asp) | |
MT | m.12439T= | CA2499567590 | MT-ND5 | c.103T= (p.Tyr35=) | |
MT | m.12440A= | CA2573329499 | MT-ND5 | c.104A= (p.Tyr35=) | |
MT | m.12440A>C | CA414813167 | MT-ND5 | c.104A>C (p.Tyr35Ser) | |
MT | m.12440A>G | CA414813169 | MT-ND5 | c.104A>G (p.Tyr35Cys) | |
MT | m.12440A>T | CA414813171 | MT-ND5 | c.104A>T (p.Tyr35Phe) | |
MT | m.12441T>A | CA414813174 | MT-ND5 | c.105T>A (p.Tyr35Ter) | |
MT | m.12441T>C | CA913170283 | MT-ND5 | c.105T>C (p.Tyr35=) | dbSNP |
MT | m.12441T>G | CA414813175 | MT-ND5 | c.105T>G (p.Tyr35Ter) | |
MT | m.12441T= | CA2499567591 | MT-ND5 | c.105T= (p.Tyr35=) | |
MT | m.12442G>A | CA414813178 | MT-ND5 | c.106G>A (p.Val36Ile) | dbSNP |
MT | m.12442G>C | CA414813180 | MT-ND5 | c.106G>C (p.Val36Leu) | |
MT | m.12442G= | CA2499567592 | MT-ND5 | c.106G= (p.Val36=) | |
MT | m.12442G>T | CA414813181 | MT-ND5 | c.106G>T (p.Val36Leu) | |
MT | m.12443T>A | CA414813184 | MT-ND5 | c.107T>A (p.Val36Glu) | |
MT | m.12443T>C | CA414813186 | MT-ND5 | c.107T>C (p.Val36Ala) | |
MT | m.12443T>G | CA414813187 | MT-ND5 | c.107T>G (p.Val36Gly) | |
MT | m.12443T= | CA2573329505 | MT-ND5 | c.107T= (p.Val36=) | |
MT | m.12444A= | CA2499567593 | MT-ND5 | c.108A= (p.Val36=) | |
MT | m.12444A>C | CA913170284 | MT-ND5 | c.108A>C (p.Val36=) | |
MT | m.12444A>G | CA913170286 | MT-ND5 | c.108A>G (p.Val36=) | dbSNP |
MT | m.12444A>T | CA913170285 | MT-ND5 | c.108A>T (p.Val36=) | |
MT | m.12445A= | CA2573329509 | MT-ND5 | c.109A= (p.Lys37=) | |
MT | m.12445A>C | CA414813190 | MT-ND5 | c.109A>C (p.Lys37Gln) | |
MT | m.12445A>G | CA414813194 | MT-ND5 | c.109A>G (p.Lys37Glu) | |
MT | m.12445A>T | CA414813192 | MT-ND5 | c.109A>T (p.Lys37Ter) | |
MT | m.12446A= | CA2573329514 | MT-ND5 | c.110A= (p.Lys37=) | |
MT | m.12446A>C | CA414813196 | MT-ND5 | c.110A>C (p.Lys37Thr) | |
MT | m.12446A>G | CA414813197 | MT-ND5 | c.110A>G (p.Lys37Arg) | |
MT | m.12446A>T | CA414813199 | MT-ND5 | c.110A>T (p.Lys37Ile) | |
MT | m.12447A= | CA2499567594 | MT-ND5 | c.111A= (p.Lys37=) | |
MT | m.12447A>C | CA414813202 | MT-ND5 | c.111A>C (p.Lys37Asn) | |
MT | m.12447A>G | CA913170292 | MT-ND5 | c.111A>G (p.Lys37=) | dbSNP |
MT | m.12447A>T | CA414813203 | MT-ND5 | c.111A>T (p.Lys37Asn) | |
MT | m.12448T>A | CA414813206 | MT-ND5 | c.112T>A (p.Ser38Thr) | ClinVar dbSNP |
MT | m.12448T>C | CA414813208 | MT-ND5 | c.112T>C (p.Ser38Pro) | ClinVar dbSNP |
MT | m.12448T>G | CA414813210 | MT-ND5 | c.112T>G (p.Ser38Ala) | |
MT | m.12448T= | CA2499567595 | MT-ND5 | c.112T= (p.Ser38=) | |
MT | m.12449C>A | CA414813212 | MT-ND5 | c.113C>A (p.Ser38Tyr) | |
MT | m.12449C= | CA2573329523 | MT-ND5 | c.113C= (p.Ser38=) | |
MT | m.12449C>G | CA414813214 | MT-ND5 | c.113C>G (p.Ser38Cys) | |
MT | m.12449C>T | CA414813216 | MT-ND5 | c.113C>T (p.Ser38Phe) | |
MT | m.12450C>A | CA913170293 | MT-ND5 | c.114C>A (p.Ser38=) | |
MT | m.12450C= | CA2573329528 | MT-ND5 | c.114C= (p.Ser38=) | |
MT | m.12450C>G | CA913170295 | MT-ND5 | c.114C>G (p.Ser38=) | |
MT | m.12450C>T | CA913170296 | MT-ND5 | c.114C>T (p.Ser38=) | |
MT | m.12451A= | CA2499567596 | MT-ND5 | c.115A= (p.Ile39=) | |
MT | m.12451A>C | CA414813222 | MT-ND5 | c.115A>C (p.Ile39Leu) | |
MT | m.12451A>G | CA414813218 | MT-ND5 | c.115A>G (p.Ile39Val) | ClinVar dbSNP |
MT | m.12451A>T | CA414813220 | MT-ND5 | c.115A>T (p.Ile39Phe) | |
MT | m.12452T>A | CA414813225 | MT-ND5 | c.116T>A (p.Ile39Asn) | |
MT | m.12452T>C | CA414813227 | MT-ND5 | c.116T>C (p.Ile39Thr) | |
MT | m.12452T>G | CA414813228 | MT-ND5 | c.116T>G (p.Ile39Ser) | |
MT | m.12452T= | CA2573329532 | MT-ND5 | c.116T= (p.Ile39=) | |
MT | m.12453T>A | CA913170300 | MT-ND5 | c.117T>A (p.Ile39=) | |
MT | m.12453T>C | CA913170299 | MT-ND5 | c.117T>C (p.Ile39=) | dbSNP |
MT | m.12453T>G | CA414813230 | MT-ND5 | c.117T>G (p.Ile39Met) | |
MT | m.12453T= | CA2499567597 | MT-ND5 | c.117T= (p.Ile39=) | |
MT | m.12454G>A | CA337099490 | MT-ND5 | c.118G>A (p.Val40Ile) | ClinVar dbSNP |
MT | m.12454G>C | CA414813234 | MT-ND5 | c.118G>C (p.Val40Leu) | |
MT | m.12454G= | CA2499567598 | MT-ND5 | c.118G= (p.Val40=) | |
MT | m.12454G>T | CA414813236 | MT-ND5 | c.118G>T (p.Val40Phe) | |
MT | m.12455T>A | CA414813238 | MT-ND5 | c.119T>A (p.Val40Asp) | |
MT | m.12455T>C | CA414813240 | MT-ND5 | c.119T>C (p.Val40Ala) | |
MT | m.12455T>G | CA414813242 | MT-ND5 | c.119T>G (p.Val40Gly) | |
MT | m.12455T= | CA2573329537 | MT-ND5 | c.119T= (p.Val40=) | |
MT | m.12456C>A | CA913170304 | MT-ND5 | c.120C>A (p.Val40=) | |
MT | m.12456C= | CA2573329540 | MT-ND5 | c.120C= (p.Val40=) | |
MT | m.12456C>G | CA913170305 | MT-ND5 | c.120C>G (p.Val40=) | |
MT | m.12456C>T | CA913170306 | MT-ND5 | c.120C>T (p.Val40=) | |
MT | m.12457_12458del | CA2844602640 | MT-ND5 | c.121_122del (p.Ala41IlefsTer?) | |
MT | m.12457G>A | CA414813249 | MT-ND5 | c.121G>A (p.Ala41Thr) | ClinVar dbSNP COSMIC |
MT | m.12457G>C | CA414813246 | MT-ND5 | c.121G>C (p.Ala41Pro) | |
MT | m.12457G= | CA2499567599 | MT-ND5 | c.121G= (p.Ala41=) | |
MT | m.12457G>T | CA414813244 | MT-ND5 | c.121G>T (p.Ala41Ser) | |
MT | m.12458C>A | CA414813251 | MT-ND5 | c.122C>A (p.Ala41Glu) | |
MT | m.12458C= | CA2499567600 | MT-ND5 | c.122C= (p.Ala41=) | |
MT | m.12458C>G | CA414813254 | MT-ND5 | c.122C>G (p.Ala41Gly) | |
MT | m.12458C>T | CA414813253 | MT-ND5 | c.122C>T (p.Ala41Val) | ClinVar dbSNP |
MT | m.12459A= | CA2573329545 | MT-ND5 | c.123A= (p.Ala41=) | |
MT | m.12459A>C | CA913170307 | MT-ND5 | c.123A>C (p.Ala41=) | |
MT | m.12459A>G | CA913170309 | MT-ND5 | c.123A>G (p.Ala41=) | |
MT | m.12459A>T | CA913170310 | MT-ND5 | c.123A>T (p.Ala41=) | |
MT | m.12460T>A | CA414813257 | MT-ND5 | c.124T>A (p.Ser42Thr) | |
MT | m.12460T>C | CA414813260 | MT-ND5 | c.124T>C (p.Ser42Pro) | |
MT | m.12460T>G | CA414813259 | MT-ND5 | c.124T>G (p.Ser42Ala) | |
MT | m.12460T= | CA2573329548 | MT-ND5 | c.124T= (p.Ser42=) | |
MT | m.12461C>A | CA414813263 | MT-ND5 | c.125C>A (p.Ser42Tyr) | |
MT | m.12461C= | CA2573329550 | MT-ND5 | c.125C= (p.Ser42=) | |
MT | m.12461C>G | CA414813266 | MT-ND5 | c.125C>G (p.Ser42Cys) | |
MT | m.12461C>T | CA414813265 | MT-ND5 | c.125C>T (p.Ser42Phe) | |
MT | m.12462C>A | CA913170311 | MT-ND5 | c.126C>A (p.Ser42=) | |
MT | m.12462C= | CA2573329552 | MT-ND5 | c.126C= (p.Ser42=) | |
MT | m.12462C>G | CA913170314 | MT-ND5 | c.126C>G (p.Ser42=) | |
MT | m.12462C>T | CA913170313 | MT-ND5 | c.126C>T (p.Ser42=) | |
MT | m.12463A= | CA2573329555 | MT-ND5 | c.127A= (p.Thr43=) | |
MT | m.12463A>C | CA414813269 | MT-ND5 | c.127A>C (p.Thr43Pro) | |
MT | m.12463A>G | CA414813271 | MT-ND5 | c.127A>G (p.Thr43Ala) | |
MT | m.12463A>T | CA414813273 | MT-ND5 | c.127A>T (p.Thr43Ser) | |
MT | m.12464C>A | CA414813276 | MT-ND5 | c.128C>A (p.Thr43Asn) | |
MT | m.12464C= | CA2573329558 | MT-ND5 | c.128C= (p.Thr43=) | |
MT | m.12464C>G | CA414813277 | MT-ND5 | c.128C>G (p.Thr43Ser) | |
MT | m.12464C>T | CA414813280 | MT-ND5 | c.128C>T (p.Thr43Ile) |