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.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.11947A= | CA2499567343 | MT-ND4 | c.1188A= (p.Thr396=) | |
| MT | m.11947A>C | CA913169190 | MT-ND4 | c.1188A>C (p.Thr396=) | |
| MT | m.11947A>G | CA337099354 | MT-ND4 | c.1188A>G (p.Thr396=) | dbSNP |
| MT | m.11947A>T | CA913169191 | MT-ND4 | c.1188A>T (p.Thr396=) | |
| MT | m.11948G>A | CA414811804 | MT-ND4 | c.1189G>A (p.Gly397Arg) | COSMIC |
| MT | m.11948G>C | CA414811806 | MT-ND4 | c.1189G>C (p.Gly397Arg) | |
| MT | m.11948G= | CA2573328597 | MT-ND4 | c.1189G= (p.Gly397=) | |
| MT | m.11948G>T | CA414811808 | MT-ND4 | c.1189G>T (p.Gly397Ter) | |
| MT | m.11949G>A | CA414811810 | MT-ND4 | c.1190G>A (p.Gly397Glu) | |
| MT | m.11949G>C | CA414811812 | MT-ND4 | c.1190G>C (p.Gly397Ala) | |
| MT | m.11949G= | CA2573328598 | MT-ND4 | c.1190G= (p.Gly397=) | |
| MT | m.11949G>T | CA414811814 | MT-ND4 | c.1190G>T (p.Gly397Val) | |
| MT | m.11950A= | CA2499567344 | MT-ND4 | c.1191A= (p.Gly397=) | |
| MT | m.11950A>C | CA913169192 | MT-ND4 | c.1191A>C (p.Gly397=) | |
| MT | m.11950A>G | CA913169193 | MT-ND4 | c.1191A>G (p.Gly397=) | dbSNP |
| MT | m.11950A>T | CA913169194 | MT-ND4 | c.1191A>T (p.Gly397=) | |
| MT | m.11951C>A | CA414811820 | MT-ND4 | c.1192C>A (p.Leu398Ile) | |
| MT | m.11951C= | CA2573328602 | MT-ND4 | c.1192C= (p.Leu398=) | |
| MT | m.11951C>G | CA414811818 | MT-ND4 | c.1192C>G (p.Leu398Val) | |
| MT | m.11951C>T | CA414811816 | MT-ND4 | c.1192C>T (p.Leu398Phe) | |
| MT | m.11952T>A | CA414811822 | MT-ND4 | c.1193T>A (p.Leu398His) | |
| MT | m.11952T>C | CA414811824 | MT-ND4 | c.1193T>C (p.Leu398Pro) | |
| MT | m.11952T>G | CA414811826 | MT-ND4 | c.1193T>G (p.Leu398Arg) | |
| MT | m.11952T= | CA2573328605 | MT-ND4 | c.1193T= (p.Leu398=) | |
| MT | m.11953C>A | CA913169200 | MT-ND4 | c.1194C>A (p.Leu398=) | |
| MT | m.11953C= | CA2573328608 | MT-ND4 | c.1194C= (p.Leu398=) | |
| MT | m.11953C>G | CA913169198 | MT-ND4 | c.1194C>G (p.Leu398=) | |
| MT | m.11953C>T | CA913169199 | MT-ND4 | c.1194C>T (p.Leu398=) | dbSNP |
| MT | m.11954A= | CA2573328611 | MT-ND4 | c.1195A= (p.Asn399=) | |
| MT | m.11954A>C | CA414811829 | MT-ND4 | c.1195A>C (p.Asn399His) | |
| MT | m.11954A>G | CA414811830 | MT-ND4 | c.1195A>G (p.Asn399Asp) | |
| MT | m.11954A>T | CA414811831 | MT-ND4 | c.1195A>T (p.Asn399Tyr) | |
| MT | m.11955A= | CA2573328612 | MT-ND4 | c.1196A= (p.Asn399=) | |
| MT | m.11955A>C | CA414811834 | MT-ND4 | c.1196A>C (p.Asn399Thr) | |
| MT | m.11955A>G | CA414811835 | MT-ND4 | c.1196A>G (p.Asn399Ser) | |
| MT | m.11955A>T | CA414811837 | MT-ND4 | c.1196A>T (p.Asn399Ile) | |
| MT | m.11956C>A | CA414811839 | MT-ND4 | c.1197C>A (p.Asn399Lys) | |
| MT | m.11956C= | CA2499567345 | MT-ND4 | c.1197C= (p.Asn399=) | |
| MT | m.11956C>G | CA414811841 | MT-ND4 | c.1197C>G (p.Asn399Lys) | |
| MT | m.11956C>T | CA913169206 | MT-ND4 | c.1197C>T (p.Asn399=) | dbSNP |
| MT | m.11957A= | CA2499567346 | MT-ND4 | c.1198A= (p.Ile400=) | |
| MT | m.11957A>C | CA414811847 | MT-ND4 | c.1198A>C (p.Ile400Leu) | |
| MT | m.11957A>G | CA414811845 | MT-ND4 | c.1198A>G (p.Ile400Val) | ClinVar dbSNP |
| MT | m.11957A>T | CA414811843 | MT-ND4 | c.1198A>T (p.Ile400Leu) | |
| MT | m.11958T>A | CA414811850 | MT-ND4 | c.1199T>A (p.Ile400Lys) | |
| MT | m.11958T>C | CA414811851 | MT-ND4 | c.1199T>C (p.Ile400Thr) | |
| MT | m.11958T>G | CA414811853 | MT-ND4 | c.1199T>G (p.Ile400Arg) | |
| MT | m.11958T= | CA2573328621 | MT-ND4 | c.1199T= (p.Ile400=) | |
| MT | m.11959A= | CA2499567347 | MT-ND4 | c.1200A= (p.Ile400=) | |
| MT | m.11959A>C | CA913169210 | MT-ND4 | c.1200A>C (p.Ile400=) | |
| MT | m.11959A>G | CA337099355 | MT-ND4 | c.1200A>G (p.Ile400Met) | dbSNP |
| MT | m.11959A>T | CA913169209 | MT-ND4 | c.1200A>T (p.Ile400=) | |
| MT | m.11960C>A | CA414811856 | MT-ND4 | c.1201C>A (p.Leu401Ile) | |
| MT | m.11960C= | CA2573328625 | MT-ND4 | c.1201C= (p.Leu401=) | |
| MT | m.11960C>G | CA414811858 | MT-ND4 | c.1201C>G (p.Leu401Val) | |
| MT | m.11960C>T | CA913169212 | MT-ND4 | c.1201C>T (p.Leu401=) | |
| MT | m.11961T>A | CA414811861 | MT-ND4 | c.1202T>A (p.Leu401Gln) | |
| MT | m.11961T>C | CA414811862 | MT-ND4 | c.1202T>C (p.Leu401Pro) | |
| MT | m.11961T>G | CA414811865 | MT-ND4 | c.1202T>G (p.Leu401Arg) | |
| MT | m.11961T= | CA2573328626 | MT-ND4 | c.1202T= (p.Leu401=) | |
| MT | m.11962A= | CA2499567348 | MT-ND4 | c.1203A= (p.Leu401=) | |
| MT | m.11962A>C | CA913169218 | MT-ND4 | c.1203A>C (p.Leu401=) | |
| MT | m.11962A>G | CA913169220 | MT-ND4 | c.1203A>G (p.Leu401=) | dbSNP |
| MT | m.11962A>T | CA913169221 | MT-ND4 | c.1203A>T (p.Leu401=) | |
| MT | m.11963G>A | CA337099357 | MT-ND4 | c.1204G>A (p.Val402Ile) | ClinVar dbSNP |
| MT | m.11963G>C | CA414811868 | MT-ND4 | c.1204G>C (p.Val402Leu) | |
| MT | m.11963G= | CA2499567349 | MT-ND4 | c.1204G= (p.Val402=) | |
| MT | m.11963G>T | CA414811870 | MT-ND4 | c.1204G>T (p.Val402Phe) | |
| MT | m.11964T>A | CA414811876 | MT-ND4 | c.1205T>A (p.Val402Asp) | |
| MT | m.11964T>C | CA414811874 | MT-ND4 | c.1205T>C (p.Val402Ala) | |
| MT | m.11964T>G | CA414811872 | MT-ND4 | c.1205T>G (p.Val402Gly) | ClinVar dbSNP |
| MT | m.11964T= | CA2499567350 | MT-ND4 | c.1205T= (p.Val402=) | |
| MT | m.11965C>A | CA913169224 | MT-ND4 | c.1206C>A (p.Val402=) | |
| MT | m.11965C= | CA2499567351 | MT-ND4 | c.1206C= (p.Val402=) | |
| MT | m.11965C>G | CA913169225 | MT-ND4 | c.1206C>G (p.Val402=) | |
| MT | m.11965C>T | CA913169222 | MT-ND4 | c.1206C>T (p.Val402=) | dbSNP |
| MT | m.11966A= | CA2573328635 | MT-ND4 | c.1207A= (p.Thr403=) | |
| MT | m.11966A>C | CA414811878 | MT-ND4 | c.1207A>C (p.Thr403Pro) | |
| MT | m.11966A>G | CA414811882 | MT-ND4 | c.1207A>G (p.Thr403Ala) | |
| MT | m.11966A>T | CA414811880 | MT-ND4 | c.1207A>T (p.Thr403Ser) | |
| MT | m.11967C>A | CA414811885 | MT-ND4 | c.1208C>A (p.Thr403Lys) | |
| MT | m.11967C= | CA2573328639 | MT-ND4 | c.1208C= (p.Thr403=) | |
| MT | m.11967C>G | CA414811888 | MT-ND4 | c.1208C>G (p.Thr403Arg) | |
| MT | m.11967C>T | CA414811887 | MT-ND4 | c.1208C>T (p.Thr403Ile) | |
| MT | m.11968A= | CA2499567352 | MT-ND4 | c.1209A= (p.Thr403=) | |
| MT | m.11968A>C | CA913169231 | MT-ND4 | c.1209A>C (p.Thr403=) | |
| MT | m.11968A>G | CA913169229 | MT-ND4 | c.1209A>G (p.Thr403=) | |
| MT | m.11968A>T | CA913169228 | MT-ND4 | c.1209A>T (p.Thr403=) | dbSNP |
| MT | m.11969G>A | CA337099359 | MT-ND4 | c.1210G>A (p.Ala404Thr) | ClinVar dbSNP |
| MT | m.11969G>C | CA414811893 | MT-ND4 | c.1210G>C (p.Ala404Pro) | |
| MT | m.11969G= | CA2499567353 | MT-ND4 | c.1210G= (p.Ala404=) | |
| MT | m.11969G>T | CA414811892 | MT-ND4 | c.1210G>T (p.Ala404Ser) | |
| MT | m.11970C>A | CA414811896 | MT-ND4 | c.1211C>A (p.Ala404Asp) | |
| MT | m.11970C= | CA2573328644 | MT-ND4 | c.1211C= (p.Ala404=) | |
| MT | m.11970C>G | CA414811898 | MT-ND4 | c.1211C>G (p.Ala404Gly) | |
| MT | m.11970C>T | CA414811899 | MT-ND4 | c.1211C>T (p.Ala404Val) | |
| MT | m.11971C>A | CA913169234 | MT-ND4 | c.1212C>A (p.Ala404=) | |
| MT | m.11971C= | CA2499567354 | MT-ND4 | c.1212C= (p.Ala404=) | |
| MT | m.11971C>G | CA913169235 | MT-ND4 | c.1212C>G (p.Ala404=) | |
| MT | m.11971C>T | CA913169236 | MT-ND4 | c.1212C>T (p.Ala404=) | dbSNP |
| MT | m.11972C>A | CA414811901 | MT-ND4 | c.1213C>A (p.Leu405Ile) | |
| MT | m.11972C= | CA2573328647 | MT-ND4 | c.1213C= (p.Leu405=) | |
| MT | m.11972C>G | CA414811903 | MT-ND4 | c.1213C>G (p.Leu405Val) | |
| MT | m.11972C>T | CA913169238 | MT-ND4 | c.1213C>T (p.Leu405=) | |
| MT | m.11973T>A | CA414811906 | MT-ND4 | c.1214T>A (p.Leu405Gln) | |
| MT | m.11973T>C | CA414811907 | MT-ND4 | c.1214T>C (p.Leu405Pro) | |
| MT | m.11973T>G | CA414811909 | MT-ND4 | c.1214T>G (p.Leu405Arg) | |
| MT | m.11973T= | CA2573328651 | MT-ND4 | c.1214T= (p.Leu405=) | |
| MT | m.11974A= | CA2499567355 | MT-ND4 | c.1215A= (p.Leu405=) | |
| MT | m.11974A>C | CA913169241 | MT-ND4 | c.1215A>C (p.Leu405=) | |
| MT | m.11974A>G | CA913169242 | MT-ND4 | c.1215A>G (p.Leu405=) | dbSNP |
| MT | m.11974A>T | CA913169243 | MT-ND4 | c.1215A>T (p.Leu405=) | |
| MT | m.11975T>A | CA414811911 | MT-ND4 | c.1216T>A (p.Tyr406Asn) | |
| MT | m.11975T>C | CA414811913 | MT-ND4 | c.1216T>C (p.Tyr406His) | |
| MT | m.11975T>G | CA414811915 | MT-ND4 | c.1216T>G (p.Tyr406Asp) | |
| MT | m.11975T= | CA2573328657 | MT-ND4 | c.1216T= (p.Tyr406=) | |
| MT | m.11976A= | CA2573328658 | MT-ND4 | c.1217A= (p.Tyr406=) | |
| MT | m.11976A>C | CA414811917 | MT-ND4 | c.1217A>C (p.Tyr406Ser) | |
| MT | m.11976A>G | CA414811921 | MT-ND4 | c.1217A>G (p.Tyr406Cys) | |
| MT | m.11976A>T | CA414811919 | MT-ND4 | c.1217A>T (p.Tyr406Phe) | |
| MT | m.11977C>A | CA414811923 | MT-ND4 | c.1218C>A (p.Tyr406Ter) | |
| MT | m.11977C= | CA2499567356 | MT-ND4 | c.1218C= (p.Tyr406=) | |
| MT | m.11977C>G | CA414811925 | MT-ND4 | c.1218C>G (p.Tyr406Ter) | |
| MT | m.11977C>T | CA913169244 | MT-ND4 | c.1218C>T (p.Tyr406=) | dbSNP |
| MT | m.11978T>A | CA414811927 | MT-ND4 | c.1219T>A (p.Ser407Thr) | ClinVar dbSNP |
| MT | m.11978T>C | CA414811929 | MT-ND4 | c.1219T>C (p.Ser407Pro) | |
| MT | m.11978T>G | CA414811931 | MT-ND4 | c.1219T>G (p.Ser407Ala) | |
| MT | m.11978T= | CA2499567357 | MT-ND4 | c.1219T= (p.Ser407=) | |
| MT | m.11979C>A | CA414811933 | MT-ND4 | c.1220C>A (p.Ser407Tyr) | |
| MT | m.11979C= | CA2573328664 | MT-ND4 | c.1220C= (p.Ser407=) | |
| MT | m.11979C>G | CA414811935 | MT-ND4 | c.1220C>G (p.Ser407Cys) | |
| MT | m.11979C>T | CA414811937 | MT-ND4 | c.1220C>T (p.Ser407Phe) | |
| MT | m.11980C>A | CA913169249 | MT-ND4 | c.1221C>A (p.Ser407=) | |
| MT | m.11980C= | CA2573328666 | MT-ND4 | c.1221C= (p.Ser407=) | |
| MT | m.11980C>G | CA913169247 | MT-ND4 | c.1221C>G (p.Ser407=) | |
| MT | m.11980C>T | CA913169246 | MT-ND4 | c.1221C>T (p.Ser407=) | |
| MT | m.11981C>A | CA414811942 | MT-ND4 | c.1222C>A (p.Leu408Ile) | |
| MT | m.11981C= | CA2499567358 | MT-ND4 | c.1222C= (p.Leu408=) | |
| MT | m.11981C>G | CA414811941 | MT-ND4 | c.1222C>G (p.Leu408Val) | |
| MT | m.11981C>T | CA337099362 | MT-ND4 | c.1222C>T (p.Leu408Phe) | ClinVar dbSNP |
| MT | m.11982T>A | CA414811945 | MT-ND4 | c.1223T>A (p.Leu408His) | |
| MT | m.11982T>C | CA414811947 | MT-ND4 | c.1223T>C (p.Leu408Pro) | |
| MT | m.11982T>G | CA414811948 | MT-ND4 | c.1223T>G (p.Leu408Arg) | |
| MT | m.11982T= | CA2573328673 | MT-ND4 | c.1223T= (p.Leu408=) | |
| MT | m.11983C>A | CA913169250 | MT-ND4 | c.1224C>A (p.Leu408=) | |
| MT | m.11983C= | CA2513654013 | MT-ND4 | c.1224C= (p.Leu408=) | |
| MT | m.11983C>G | CA913169251 | MT-ND4 | c.1224C>G (p.Leu408=) | |
| MT | m.11983C>T | CA913169252 | MT-ND4 | c.1224C>T (p.Leu408=) | |
| MT | m.11984T>A | CA414811952 | MT-ND4 | c.1225T>A (p.Tyr409Asn) | |
| MT | m.11984T>C | CA345917 | MT-ND4 | c.1225T>C (p.Tyr409His) | ClinVar dbSNP |
| MT | m.11984T>G | CA414811954 | MT-ND4 | c.1225T>G (p.Tyr409Asp) | |
| MT | m.11984T= | CA2499567359 | MT-ND4 | c.1225T= (p.Tyr409=) | |
| MT | m.11985A= | CA2573328681 | MT-ND4 | c.1226A= (p.Tyr409=) | |
| MT | m.11985A>C | CA414811957 | MT-ND4 | c.1226A>C (p.Tyr409Ser) | |
| MT | m.11985A>G | CA414811958 | MT-ND4 | c.1226A>G (p.Tyr409Cys) | |
| MT | m.11985A>T | CA414811960 | MT-ND4 | c.1226A>T (p.Tyr409Phe) | |
| MT | m.11986C>A | CA414811962 | MT-ND4 | c.1227C>A (p.Tyr409Ter) | |
| MT | m.11986C= | CA2499567360 | MT-ND4 | c.1227C= (p.Tyr409=) | |
| MT | m.11986C>G | CA414811964 | MT-ND4 | c.1227C>G (p.Tyr409Ter) | |
| MT | m.11986C>T | CA913169256 | MT-ND4 | c.1227C>T (p.Tyr409=) | dbSNP |
| MT | m.11987A= | CA2573328683 | MT-ND4 | c.1228A= (p.Ile410=) | |
| MT | m.11987A>C | CA414811970 | MT-ND4 | c.1228A>C (p.Ile410Leu) | |
| MT | m.11987A>G | CA414811967 | MT-ND4 | c.1228A>G (p.Ile410Val) | |
| MT | m.11987A>T | CA414811968 | MT-ND4 | c.1228A>T (p.Ile410Leu) | |
| MT | m.11989_11990del | CA2573105227 | MT-ND4 | c.1230_1231del (p.Phe411TyrfsTer13) | |
| MT | m.11988T>A | CA414811973 | MT-ND4 | c.1229T>A (p.Ile410Lys) | |
| MT | m.11988T>C | CA414811974 | MT-ND4 | c.1229T>C (p.Ile410Thr) | |
| MT | m.11988T>G | CA414811976 | MT-ND4 | c.1229T>G (p.Ile410Arg) | |
| MT | m.11988T= | CA2573328686 | MT-ND4 | c.1229T= (p.Ile410=) | |
| MT | m.11989A= | CA2573328689 | MT-ND4 | c.1230A= (p.Ile410=) | |
| MT | m.11989A>C | CA913169260 | MT-ND4 | c.1230A>C (p.Ile410=) | |
| MT | m.11989A>G | CA414811978 | MT-ND4 | c.1230A>G (p.Ile410Met) | |
| MT | m.11989A>T | CA913169259 | MT-ND4 | c.1230A>T (p.Ile410=) | |
| MT | m.11990T>A | CA414811980 | MT-ND4 | c.1231T>A (p.Phe411Ile) | |
| MT | m.11990T>C | CA414811982 | MT-ND4 | c.1231T>C (p.Phe411Leu) | ClinVar dbSNP |
| MT | m.11990T>G | CA414811984 | MT-ND4 | c.1231T>G (p.Phe411Val) | |
| MT | m.11990T= | CA2499567361 | MT-ND4 | c.1231T= (p.Phe411=) | |
| MT | m.11991T>A | CA414811986 | MT-ND4 | c.1232T>A (p.Phe411Tyr) | |
| MT | m.11991T>C | CA414811988 | MT-ND4 | c.1232T>C (p.Phe411Ser) | COSMIC |
| MT | m.11991T>G | CA414811990 | MT-ND4 | c.1232T>G (p.Phe411Cys) | |
| MT | m.11991T= | CA2573328694 | MT-ND4 | c.1232T= (p.Phe411=) | |
| MT | m.11992T>A | CA414811994 | MT-ND4 | c.1233T>A (p.Phe411Leu) | |
| MT | m.11992T>C | CA645611413 | MT-ND4 | c.1233T>C (p.Phe411=) | dbSNP COSMIC COSMIC |
| MT | m.11992T>G | CA414811993 | MT-ND4 | c.1233T>G (p.Phe411Leu) | |
| MT | m.11992T= | CA2499567362 | MT-ND4 | c.1233T= (p.Phe411=) | |
| MT | m.11993A= | CA2573328698 | MT-ND4 | c.1234A= (p.Thr412=) | |
| MT | m.11993A>C | CA414811997 | MT-ND4 | c.1234A>C (p.Thr412Pro) | |
| MT | m.11993A>G | CA414812000 | MT-ND4 | c.1234A>G (p.Thr412Ala) | |
| MT | m.11993A>T | CA414811998 | MT-ND4 | c.1234A>T (p.Thr412Ser) | |
| MT | m.11994C>A | CA414812003 | MT-ND4 | c.1235C>A (p.Thr412Asn) | |
| MT | m.11994C= | CA2573328699 | MT-ND4 | c.1235C= (p.Thr412=) | |
| MT | m.11994C>G | CA414812004 | MT-ND4 | c.1235C>G (p.Thr412Ser) | |
| MT | m.11994C>T | CA414812006 | MT-ND4 | c.1235C>T (p.Thr412Ile) | |
| MT | m.11994_11995insAAGAG | CA2740098354 | MT-ND4 | c.1235_1236insAAGAG (p.Thr413ArgfsTer16) | |
| MT | m.11995C>A | CA913169268 | MT-ND4 | c.1236C>A (p.Thr412=) | |
| MT | m.11995C= | CA2499567363 | MT-ND4 | c.1236C= (p.Thr412=) | |
| MT | m.11995C>G | CA913169267 | MT-ND4 | c.1236C>G (p.Thr412=) | |
| MT | m.11995C>T | CA913169266 | MT-ND4 | c.1236C>T (p.Thr412=) | dbSNP |
| MT | m.11996A= | CA2573328700 | MT-ND4 | c.1237A= (p.Thr413=) | |
| MT | m.11996A>C | CA414812009 | MT-ND4 | c.1237A>C (p.Thr413Pro) | |
| MT | m.11996A>G | CA414812011 | MT-ND4 | c.1237A>G (p.Thr413Ala) | |
| MT | m.11996A>T | CA414812012 | MT-ND4 | c.1237A>T (p.Thr413Ser) | |
| MT | m.11997C>A | CA414812015 | MT-ND4 | c.1238C>A (p.Thr413Lys) | |
| MT | m.11997C= | CA2573328703 | MT-ND4 | c.1238C= (p.Thr413=) | |
| MT | m.11997C>G | CA414812017 | MT-ND4 | c.1238C>G (p.Thr413Arg) | |
| MT | m.11997C>T | CA414812019 | MT-ND4 | c.1238C>T (p.Thr413Ile) | |
| MT | m.11998A= | CA2573328704 | MT-ND4 | c.1239A= (p.Thr413=) | |
| MT | m.11998A>C | CA913169270 | MT-ND4 | c.1239A>C (p.Thr413=) | |
| MT | m.11998A>G | CA913169269 | MT-ND4 | c.1239A>G (p.Thr413=) | |
| MT | m.11998A>T | CA913169271 | MT-ND4 | c.1239A>T (p.Thr413=) | |
| MT | m.11999A= | CA2573328707 | MT-ND4 | c.1240A= (p.Thr414=) | |
| MT | m.11999A>C | CA414812021 | MT-ND4 | c.1240A>C (p.Thr414Pro) | |
| MT | m.11999A>G | CA414812023 | MT-ND4 | c.1240A>G (p.Thr414Ala) | |
| MT | m.11999A>T | CA414812025 | MT-ND4 | c.1240A>T (p.Thr414Ser) | |
| MT | m.12000C>A | CA414812027 | MT-ND4 | c.1241C>A (p.Thr414Lys) | |
| MT | m.12000C= | CA2573328709 | MT-ND4 | c.1241C= (p.Thr414=) | |
| MT | m.12000C>G | CA414812031 | MT-ND4 | c.1241C>G (p.Thr414Arg) | |
| MT | m.12000C>T | CA414812029 | MT-ND4 | c.1241C>T (p.Thr414Ile) | |
| MT | m.12001A= | CA2573328711 | MT-ND4 | c.1242A= (p.Thr414=) | |
| MT | m.12001A>C | CA913169278 | MT-ND4 | c.1242A>C (p.Thr414=) | dbSNP |
| MT | m.12001A>G | CA913169277 | MT-ND4 | c.1242A>G (p.Thr414=) | |
| MT | m.12001A>T | CA913169276 | MT-ND4 | c.1242A>T (p.Thr414=) | |
| MT | m.12002C>A | CA414812033 | MT-ND4 | c.1243C>A (p.Gln415Lys) | |
| MT | m.12002C= | CA2573328712 | MT-ND4 | c.1243C= (p.Gln415=) | |
| MT | m.12002C>G | CA414812035 | MT-ND4 | c.1243C>G (p.Gln415Glu) | |
| MT | m.12002C>T | CA414812037 | MT-ND4 | c.1243C>T (p.Gln415Ter) | |
| MT | m.12003A= | CA2573328715 | MT-ND4 | c.1244A= (p.Gln415=) | |
| MT | m.12003A>C | CA414812039 | MT-ND4 | c.1244A>C (p.Gln415Pro) | |
| MT | m.12003A>G | CA414812041 | MT-ND4 | c.1244A>G (p.Gln415Arg) | |
| MT | m.12003A>T | CA414812043 | MT-ND4 | c.1244A>T (p.Gln415Leu) | |
| MT | m.12004A= | CA2499567364 | MT-ND4 | c.1245A= (p.Gln415=) | |
| MT | m.12004A>C | CA414812045 | MT-ND4 | c.1245A>C (p.Gln415His) | |
| MT | m.12004A>G | CA913169281 | MT-ND4 | c.1245A>G (p.Gln415=) | dbSNP |
| MT | m.12004A>T | CA414812047 | MT-ND4 | c.1245A>T (p.Gln415His) | |
| MT | m.12005T>A | CA414812053 | MT-ND4 | c.1246T>A (p.Trp416Arg) | |
| MT | m.12005T>C | CA414812051 | MT-ND4 | c.1246T>C (p.Trp416Arg) | COSMIC COSMIC |
| MT | m.12005T>G | CA414812049 | MT-ND4 | c.1246T>G (p.Trp416Gly) | |
| MT | m.12005T= | CA2573328719 | MT-ND4 | c.1246T= (p.Trp416=) | |
| MT | m.12006G>A | CA414812056 | MT-ND4 | c.1247G>A (p.Trp416Ter) | dbSNP |
| MT | m.12006G>C | CA414812057 | MT-ND4 | c.1247G>C (p.Trp416Ser) | |
| MT | m.12006G= | CA2499567365 | MT-ND4 | c.1247G= (p.Trp416=) | |
| MT | m.12006G>T | CA414812059 | MT-ND4 | c.1247G>T (p.Trp416Leu) | |
| MT | m.12007G>A | CA337099365 | MT-ND4 | c.1248G>A (p.Trp416Ter) | ClinVar dbSNP |
| MT | m.12007G>C | CA414812062 | MT-ND4 | c.1248G>C (p.Trp416Cys) | |
| MT | m.12007G= | CA2499567366 | MT-ND4 | c.1248G= (p.Trp416=) | |
| MT | m.12007G>T | CA414812064 | MT-ND4 | c.1248G>T (p.Trp416Cys) | |
| MT | m.12008G>A | CA414812067 | MT-ND4 | c.1249G>A (p.Gly417Ser) | dbSNP |
| MT | m.12008G>C | CA414812068 | MT-ND4 | c.1249G>C (p.Gly417Arg) | |
| MT | m.12008G= | CA2499567367 | MT-ND4 | c.1249G= (p.Gly417=) | |
| MT | m.12008G>T | CA414812070 | MT-ND4 | c.1249G>T (p.Gly417Cys) | |
| MT | m.12009G>A | CA414812073 | MT-ND4 | c.1250G>A (p.Gly417Asp) | COSMIC COSMIC |
| MT | m.12009G>C | CA414812074 | MT-ND4 | c.1250G>C (p.Gly417Ala) | |
| MT | m.12009G= | CA2573328722 | MT-ND4 | c.1250G= (p.Gly417=) | |
| MT | m.12009G>T | CA414812076 | MT-ND4 | c.1250G>T (p.Gly417Val) | |
| MT | m.12010C>A | CA913169287 | MT-ND4 | c.1251C>A (p.Gly417=) | |
| MT | m.12010C= | CA2499567368 | MT-ND4 | c.1251C= (p.Gly417=) | |
| MT | m.12010C>G | CA913169288 | MT-ND4 | c.1251C>G (p.Gly417=) | |
| MT | m.12010C>T | CA16040632 | MT-ND4 | c.1251C>T (p.Gly417=) | ClinVar dbSNP |
| MT | m.12015_12018del | CA2740098355 | MT-ND4 | c.1256_1259del (p.Leu419ProfsTer7) | |
| MT | m.12011T>A | CA414812081 | MT-ND4 | c.1252T>A (p.Ser418Thr) | |
| MT | m.12011T>C | CA337099368 | MT-ND4 | c.1252T>C (p.Ser418Pro) | ClinVar dbSNP |
| MT | m.12011T>G | CA414812083 | MT-ND4 | c.1252T>G (p.Ser418Ala) | ClinVar dbSNP |
| MT | m.12011T= | CA2499567369 | MT-ND4 | c.1252T= (p.Ser418=) | |
| MT | m.12012C>A | CA414812086 | MT-ND4 | c.1253C>A (p.Ser418Ter) | |
| MT | m.12012C= | CA2573328730 | MT-ND4 | c.1253C= (p.Ser418=) | |
| MT | m.12012C>G | CA414812088 | MT-ND4 | c.1253C>G (p.Ser418Ter) | |
| MT | m.12012C>T | CA414812089 | MT-ND4 | c.1253C>T (p.Ser418Leu) | |
| MT | m.12013A= | CA2499567370 | MT-ND4 | c.1254A= (p.Ser418=) | |
| MT | m.12013A>C | CA913169296 | MT-ND4 | c.1254A>C (p.Ser418=) | |
| MT | m.12013A>G | CA16040633 | MT-ND4 | c.1254A>G (p.Ser418=) | ClinVar dbSNP |
| MT | m.12013A>T | CA913169291 | MT-ND4 | c.1254A>T (p.Ser418=) | |
| MT | m.12014C>A | CA414812093 | MT-ND4 | c.1255C>A (p.Leu419Ile) | |
| MT | m.12014C= | CA2499567371 | MT-ND4 | c.1255C= (p.Leu419=) | |
| MT | m.12014C>G | CA414812094 | MT-ND4 | c.1255C>G (p.Leu419Val) | |
| MT | m.12014C>T | CA414812096 | MT-ND4 | c.1255C>T (p.Leu419Phe) | ClinVar dbSNP |
| MT | m.12015T>A | CA414812099 | MT-ND4 | c.1256T>A (p.Leu419His) | |
| MT | m.12015T>C | CA414812101 | MT-ND4 | c.1256T>C (p.Leu419Pro) | ClinVar dbSNP COSMIC |
| MT | m.12015T>G | CA414812103 | MT-ND4 | c.1256T>G (p.Leu419Arg) | |
| MT | m.12015T= | CA2499567372 | MT-ND4 | c.1256T= (p.Leu419=) | |
| MT | m.12016C>A | CA913169301 | MT-ND4 | c.1257C>A (p.Leu419=) | |
| MT | m.12016C= | CA2573328734 | MT-ND4 | c.1257C= (p.Leu419=) | |
| MT | m.12016C>G | CA913169303 | MT-ND4 | c.1257C>G (p.Leu419=) | |
| MT | m.12016C>T | CA913169302 | MT-ND4 | c.1257C>T (p.Leu419=) | |
| MT | m.12017A= | CA2499567373 | MT-ND4 | c.1258A= (p.Thr420=) | |
| MT | m.12017A>C | CA414812108 | MT-ND4 | c.1258A>C (p.Thr420Pro) | |
| MT | m.12017A>G | CA337099371 | MT-ND4 | c.1258A>G (p.Thr420Ala) | ClinVar dbSNP |
| MT | m.12017A>T | CA414812105 | MT-ND4 | c.1258A>T (p.Thr420Ser) | |
| MT | m.12017_12018insTTA | CA2740098356 | MT-ND4 | c.1258_1259insTTA (p.Leu419_Thr420insIle) | |
| MT | m.12018C>A | CA414812112 | MT-ND4 | c.1259C>A (p.Thr420Asn) | |
| MT | m.12018C= | CA2499567374 | MT-ND4 | c.1259C= (p.Thr420=) | |
| MT | m.12018C>G | CA16040634 | MT-ND4 | c.1259C>G (p.Thr420Ser) | ClinVar dbSNP |
| MT | m.12018C>T | CA414812113 | MT-ND4 | c.1259C>T (p.Thr420Ile) | |
| MT | m.12019C>A | CA913169305 | MT-ND4 | c.1260C>A (p.Thr420=) | |
| MT | m.12019C= | CA2499567375 | MT-ND4 | c.1260C= (p.Thr420=) | |
| MT | m.12019C>G | CA913169307 | MT-ND4 | c.1260C>G (p.Thr420=) | |
| MT | m.12019C>T | CA913169308 | MT-ND4 | c.1260C>T (p.Thr420=) | dbSNP |
| MT | m.12020C>A | CA414812116 | MT-ND4 | c.1261C>A (p.His421Asn) | |
| MT | m.12020C= | CA2499567376 | MT-ND4 | c.1261C= (p.His421=) | |
| MT | m.12020C>G | CA414812119 | MT-ND4 | c.1261C>G (p.His421Asp) | |
| MT | m.12020C>T | CA414812118 | MT-ND4 | c.1261C>T (p.His421Tyr) | ClinVar dbSNP |
| MT | m.12021A= | CA2499567377 | MT-ND4 | c.1262A= (p.His421=) | |
| MT | m.12021A>C | CA414812122 | MT-ND4 | c.1262A>C (p.His421Pro) | dbSNP |
| MT | m.12021A>G | CA414812124 | MT-ND4 | c.1262A>G (p.His421Arg) | |
| MT | m.12021A>T | CA414812125 | MT-ND4 | c.1262A>T (p.His421Leu) | |
| MT | m.12022C>A | CA414812128 | MT-ND4 | c.1263C>A (p.His421Gln) | |
| MT | m.12022C= | CA2573328744 | MT-ND4 | c.1263C= (p.His421=) | |
| MT | m.12022C>G | CA414812130 | MT-ND4 | c.1263C>G (p.His421Gln) | |
| MT | m.12022C>T | CA913169311 | MT-ND4 | c.1263C>T (p.His421=) | dbSNP |
| MT | m.12023C>A | CA414812132 | MT-ND4 | c.1264C>A (p.His422Asn) | |
| MT | m.12023C= | CA2573328746 | MT-ND4 | c.1264C= (p.His422=) | |
| MT | m.12023C>G | CA414812134 | MT-ND4 | c.1264C>G (p.His422Asp) | |
| MT | m.12023C>T | CA414812136 | MT-ND4 | c.1264C>T (p.His422Tyr) | |
| MT | m.12024A= | CA2573328750 | MT-ND4 | c.1265A= (p.His422=) | |
| MT | m.12024A>C | CA414812138 | MT-ND4 | c.1265A>C (p.His422Pro) | |
| MT | m.12024A>G | CA414812140 | MT-ND4 | c.1265A>G (p.His422Arg) | |
| MT | m.12024A>T | CA414812142 | MT-ND4 | c.1265A>T (p.His422Leu) | |
| MT | m.12025C>A | CA414812146 | MT-ND4 | c.1266C>A (p.His422Gln) | |
| MT | m.12025C= | CA2573328754 | MT-ND4 | c.1266C= (p.His422=) | |
| MT | m.12025C>G | CA414812144 | MT-ND4 | c.1266C>G (p.His422Gln) | |
| MT | m.12025C>T | CA913169313 | MT-ND4 | c.1266C>T (p.His422=) | |
| MT | m.12026A= | CA2499567378 | MT-ND4 | c.1267A= (p.Ile423=) | |
| MT | m.12026A>C | CA414812148 | MT-ND4 | c.1267A>C (p.Ile423Leu) | |
| MT | m.12026A>G | CA337099374 | MT-ND4 | c.1267A>G (p.Ile423Val) | ClinVar dbSNP |
| MT | m.12026A>T | CA414812151 | MT-ND4 | c.1267A>T (p.Ile423Phe) | |
| MT | m.12027T>A | CA414812153 | MT-ND4 | c.1268T>A (p.Ile423Asn) | |
| MT | m.12027T>C | CA414812155 | MT-ND4 | c.1268T>C (p.Ile423Thr) | dbSNP |
| MT | m.12027T>G | CA414812157 | MT-ND4 | c.1268T>G (p.Ile423Ser) | |
| MT | m.12027T= | CA2499567379 | MT-ND4 | c.1268T= (p.Ile423=) | |
| MT | m.12028T>A | CA913169318 | MT-ND4 | c.1269T>A (p.Ile423=) | |
| MT | m.12028T>C | CA913169316 | MT-ND4 | c.1269T>C (p.Ile423=) | dbSNP |
| MT | m.12028T>G | CA414812159 | MT-ND4 | c.1269T>G (p.Ile423Met) | |
| MT | m.12028T= | CA2499567380 | MT-ND4 | c.1269T= (p.Ile423=) | |
| MT | m.12029A= | CA2573328760 | MT-ND4 | c.1270A= (p.Asn424=) | |
| MT | m.12029A>C | CA414812161 | MT-ND4 | c.1270A>C (p.Asn424His) | |
| MT | m.12029A>G | CA414812163 | MT-ND4 | c.1270A>G (p.Asn424Asp) | |
| MT | m.12029A>T | CA414812165 | MT-ND4 | c.1270A>T (p.Asn424Tyr) | |
| MT | m.12030A= | CA2499567381 | MT-ND4 | c.1271A= (p.Asn424=) | |
| MT | m.12030A>C | CA414812171 | MT-ND4 | c.1271A>C (p.Asn424Thr) | |
| MT | m.12030A>G | CA414812169 | MT-ND4 | c.1271A>G (p.Asn424Ser) | ClinVar dbSNP |
| MT | m.12030A>T | CA414812168 | MT-ND4 | c.1271A>T (p.Asn424Ile) | |
| MT | m.12031C>A | CA414812174 | MT-ND4 | c.1272C>A (p.Asn424Lys) | ClinVar dbSNP |
| MT | m.12031C= | CA2499567382 | MT-ND4 | c.1272C= (p.Asn424=) | |
| MT | m.12031C>G | CA414812176 | MT-ND4 | c.1272C>G (p.Asn424Lys) | |
| MT | m.12031C>T | CA913169319 | MT-ND4 | c.1272C>T (p.Asn424=) | dbSNP |
| MT | m.12032A= | CA2573328765 | MT-ND4 | c.1273A= (p.Asn425=) | |
| MT | m.12032A>C | CA414812178 | MT-ND4 | c.1273A>C (p.Asn425His) | |
| MT | m.12032A>G | CA414812180 | MT-ND4 | c.1273A>G (p.Asn425Asp) | |
| MT | m.12032A>T | CA414812182 | MT-ND4 | c.1273A>T (p.Asn425Tyr) | |
| MT | m.12033A= | CA2499567383 | MT-ND4 | c.1274A= (p.Asn425=) | |
| MT | m.12033A>C | CA414812185 | MT-ND4 | c.1274A>C (p.Asn425Thr) | |
| MT | m.12033A>G | CA414812186 | MT-ND4 | c.1274A>G (p.Asn425Ser) | ClinVar dbSNP |
| MT | m.12033A>T | CA414812188 | MT-ND4 | c.1274A>T (p.Asn425Ile) | |
| MT | m.12034C>A | CA414812191 | MT-ND4 | c.1275C>A (p.Asn425Lys) | |
| MT | m.12034C= | CA2499567384 | MT-ND4 | c.1275C= (p.Asn425=) | |
| MT | m.12034C>G | CA414812192 | MT-ND4 | c.1275C>G (p.Asn425Lys) | |
| MT | m.12034C>T | CA913169324 | MT-ND4 | c.1275C>T (p.Asn425=) | dbSNP |
| MT | m.12035A= | CA2573328768 | MT-ND4 | c.1276A= (p.Ile426=) | |
| MT | m.12035A>C | CA414812195 | MT-ND4 | c.1276A>C (p.Ile426Leu) | |
| MT | m.12035A>G | CA414812197 | MT-ND4 | c.1276A>G (p.Ile426Val) | |
| MT | m.12035A>T | CA414812198 | MT-ND4 | c.1276A>T (p.Ile426Leu) | |
| MT | m.12036T>A | CA414812201 | MT-ND4 | c.1277T>A (p.Ile426Lys) | |
| MT | m.12036T>C | CA414812205 | MT-ND4 | c.1277T>C (p.Ile426Thr) | |
| MT | m.12036T>G | CA414812203 | MT-ND4 | c.1277T>G (p.Ile426Arg) | |
| MT | m.12036T= | CA2573328771 | MT-ND4 | c.1277T= (p.Ile426=) | |
| MT | m.12037A= | CA2573328772 | MT-ND4 | c.1278A= (p.Ile426=) | |
| MT | m.12037A>C | CA913169326 | MT-ND4 | c.1278A>C (p.Ile426=) | |
| MT | m.12037A>G | CA414812207 | MT-ND4 | c.1278A>G (p.Ile426Met) | |
| MT | m.12037A>T | CA913169325 | MT-ND4 | c.1278A>T (p.Ile426=) | |
| MT | m.12038A= | CA2573328775 | MT-ND4 | c.1279A= (p.Lys427=) | |
| MT | m.12038A>C | CA414812210 | MT-ND4 | c.1279A>C (p.Lys427Gln) | |
| MT | m.12038A>G | CA414812211 | MT-ND4 | c.1279A>G (p.Lys427Glu) | |
| MT | m.12038A>T | CA414812213 | MT-ND4 | c.1279A>T (p.Lys427Ter) | |
| MT | m.12039A= | CA2573328777 | MT-ND4 | c.1280A= (p.Lys427=) | |
| MT | m.12039A>C | CA414812215 | MT-ND4 | c.1280A>C (p.Lys427Thr) | |
| MT | m.12039A>G | CA414812217 | MT-ND4 | c.1280A>G (p.Lys427Arg) | |
| MT | m.12039A>T | CA414812219 | MT-ND4 | c.1280A>T (p.Lys427Ile) | |
| MT | m.12040A= | CA2499567385 | MT-ND4 | c.1281A= (p.Lys427=) | |
| MT | m.12040A>C | CA414812221 | MT-ND4 | c.1281A>C (p.Lys427Asn) | dbSNP |
| MT | m.12040A>G | CA913169330 | MT-ND4 | c.1281A>G (p.Lys427=) | dbSNP |
| MT | m.12040A>T | CA414812223 | MT-ND4 | c.1281A>T (p.Lys427Asn) | ClinVar dbSNP |
| MT | m.12041C>A | CA414812229 | MT-ND4 | c.1282C>A (p.Pro428Thr) | |
| MT | m.12041C= | CA2573328782 | MT-ND4 | c.1282C= (p.Pro428=) | |
| MT | m.12041C>G | CA414812227 | MT-ND4 | c.1282C>G (p.Pro428Ala) | |
| MT | m.12041C>T | CA414812226 | MT-ND4 | c.1282C>T (p.Pro428Ser) | |
| MT | m.12042C>A | CA414812232 | MT-ND4 | c.1283C>A (p.Pro428His) | |
| MT | m.12042C= | CA2573328785 | MT-ND4 | c.1283C= (p.Pro428=) | |
| MT | m.12042C>G | CA414812233 | MT-ND4 | c.1283C>G (p.Pro428Arg) | |
| MT | m.12042C>T | CA414812235 | MT-ND4 | c.1283C>T (p.Pro428Leu) | |
| MT | m.12043C>A | CA913169337 | MT-ND4 | c.1284C>A (p.Pro428=) | |
| MT | m.12043C= | CA2573328787 | MT-ND4 | c.1284C= (p.Pro428=) | |
| MT | m.12043C>G | CA913169336 | MT-ND4 | c.1284C>G (p.Pro428=) | |
| MT | m.12043C>T | CA913169335 | MT-ND4 | c.1284C>T (p.Pro428=) | |
| MT | m.12044T>A | CA414812238 | MT-ND4 | c.1285T>A (p.Ser429Thr) | |
| MT | m.12044T>C | CA414812239 | MT-ND4 | c.1285T>C (p.Ser429Pro) | |
| MT | m.12044T>G | CA414812241 | MT-ND4 | c.1285T>G (p.Ser429Ala) | |
| MT | m.12044T= | CA2573328789 | MT-ND4 | c.1285T= (p.Ser429=) | |
| MT | m.12045C>A | CA414812244 | MT-ND4 | c.1286C>A (p.Ser429Ter) | |
| MT | m.12045C= | CA2573328791 | MT-ND4 | c.1286C= (p.Ser429=) | |
| MT | m.12045C>G | CA414812245 | MT-ND4 | c.1286C>G (p.Ser429Ter) | |
| MT | m.12045C>T | CA414812247 | MT-ND4 | c.1286C>T (p.Ser429Leu) | |
| MT | m.12046A= | CA2573328793 | MT-ND4 | c.1287A= (p.Ser429=) | |
| MT | m.12046A>C | CA913169341 | MT-ND4 | c.1287A>C (p.Ser429=) | |
| MT | m.12046A>G | CA913169342 | MT-ND4 | c.1287A>G (p.Ser429=) | dbSNP |
| MT | m.12046A>T | CA913169343 | MT-ND4 | c.1287A>T (p.Ser429=) | |
| MT | m.12047T>A | CA414812250 | MT-ND4 | c.1288T>A (p.Phe430Ile) | |
| MT | m.12047T>C | CA414812252 | MT-ND4 | c.1288T>C (p.Phe430Leu) | dbSNP |
| MT | m.12047T>G | CA414812254 | MT-ND4 | c.1288T>G (p.Phe430Val) | |
| MT | m.12047T= | CA2573328795 | MT-ND4 | c.1288T= (p.Phe430=) |