| 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.7287C>A | CA414792230 | MT-CO1 | c.1384C>A (p.Leu462Ile) | |
| MT | m.7287C= | CA2573327052 | MT-CO1 | c.1384C= (p.Leu462=) | |
| MT | m.7287C>G | CA414792231 | MT-CO1 | c.1384C>G (p.Leu462Val) | |
| MT | m.7287C>T | CA913176891 | MT-CO1 | c.1384C>T (p.Leu462=) | dbSNP |
| MT | m.7288T>A | CA414792233 | MT-CO1 | c.1385T>A (p.Leu462Gln) | |
| MT | m.7288T>C | CA414792235 | MT-CO1 | c.1385T>C (p.Leu462Pro) | |
| MT | m.7288T>G | CA414792237 | MT-CO1 | c.1385T>G (p.Leu462Arg) | |
| MT | m.7288T= | CA2573327054 | MT-CO1 | c.1385T= (p.Leu462=) | |
| MT | m.7289A= | CA2499565103 | MT-CO1 | c.1386A= (p.Leu462=) | |
| MT | m.7289A>C | CA913176892 | MT-CO1 | c.1386A>C (p.Leu462=) | |
| MT | m.7289A>G | CA913176894 | MT-CO1 | c.1386A>G (p.Leu462=) | dbSNP |
| MT | m.7289A>T | CA913176895 | MT-CO1 | c.1386A>T (p.Leu462=) | |
| MT | m.7290A= | CA2499565104 | MT-CO1 | c.1387A= (p.Thr463=) | |
| MT | m.7290A>C | CA414792243 | MT-CO1 | c.1387A>C (p.Thr463Pro) | |
| MT | m.7290A>G | CA414792241 | MT-CO1 | c.1387A>G (p.Thr463Ala) | ClinVar dbSNP |
| MT | m.7290A>T | CA414792239 | MT-CO1 | c.1387A>T (p.Thr463Ser) | |
| MT | m.7291C>A | CA414792245 | MT-CO1 | c.1388C>A (p.Thr463Lys) | |
| MT | m.7291C= | CA2573327059 | MT-CO1 | c.1388C= (p.Thr463=) | |
| MT | m.7291C>G | CA414792247 | MT-CO1 | c.1388C>G (p.Thr463Arg) | |
| MT | m.7291C>T | CA414792248 | MT-CO1 | c.1388C>T (p.Thr463Ile) | |
| MT | m.7292A= | CA2499565105 | MT-CO1 | c.1389A= (p.Thr463=) | |
| MT | m.7292A>C | CA913176896 | MT-CO1 | c.1389A>C (p.Thr463=) | |
| MT | m.7292A>G | CA913176897 | MT-CO1 | c.1389A>G (p.Thr463=) | |
| MT | m.7292A>T | CA913176898 | MT-CO1 | c.1389A>T (p.Thr463=) | dbSNP |
| MT | m.7293G>A | CA414792251 | MT-CO1 | c.1390G>A (p.Ala464Thr) | |
| MT | m.7293G>C | CA414792253 | MT-CO1 | c.1390G>C (p.Ala464Pro) | |
| MT | m.7293G= | CA2573327065 | MT-CO1 | c.1390G= (p.Ala464=) | |
| MT | m.7293G>T | CA414792254 | MT-CO1 | c.1390G>T (p.Ala464Ser) | |
| MT | m.7294C>A | CA414792257 | MT-CO1 | c.1391C>A (p.Ala464Glu) | |
| MT | m.7294C= | CA2573327069 | MT-CO1 | c.1391C= (p.Ala464=) | |
| MT | m.7294C>G | CA414792259 | MT-CO1 | c.1391C>G (p.Ala464Gly) | |
| MT | m.7294C>T | CA414792260 | MT-CO1 | c.1391C>T (p.Ala464Val) | |
| MT | m.7295A= | CA2499565106 | MT-CO1 | c.1392A= (p.Ala464=) | |
| MT | m.7295A>C | CA913176901 | MT-CO1 | c.1392A>C (p.Ala464=) | |
| MT | m.7295A>G | CA913176900 | MT-CO1 | c.1392A>G (p.Ala464=) | dbSNP |
| MT | m.7295A>T | CA913176902 | MT-CO1 | c.1392A>T (p.Ala464=) | |
| MT | m.7296G>A | CA414792263 | MT-CO1 | c.1393G>A (p.Val465Ile) | |
| MT | m.7296G>C | CA337097595 | MT-CO1 | c.1393G>C (p.Val465Leu) | dbSNP |
| MT | m.7296G= | CA2499565107 | MT-CO1 | c.1393G= (p.Val465=) | |
| MT | m.7296G>T | CA414792265 | MT-CO1 | c.1393G>T (p.Val465Leu) | |
| MT | m.7297T>A | CA414792271 | MT-CO1 | c.1394T>A (p.Val465Glu) | |
| MT | m.7297T>C | CA414792267 | MT-CO1 | c.1394T>C (p.Val465Ala) | |
| MT | m.7297T>G | CA414792269 | MT-CO1 | c.1394T>G (p.Val465Gly) | |
| MT | m.7297T= | CA2573327076 | MT-CO1 | c.1394T= (p.Val465=) | |
| MT | m.7298A= | CA2499565108 | MT-CO1 | c.1395A= (p.Val465=) | |
| MT | m.7298A>C | CA913176904 | MT-CO1 | c.1395A>C (p.Val465=) | |
| MT | m.7298A>G | CA913176905 | MT-CO1 | c.1395A>G (p.Val465=) | dbSNP |
| MT | m.7298A>T | CA913176906 | MT-CO1 | c.1395A>T (p.Val465=) | |
| MT | m.7299A= | CA2499565109 | MT-CO1 | c.1396A= (p.Ile466=) | |
| MT | m.7299A>C | CA414792273 | MT-CO1 | c.1396A>C (p.Ile466Leu) | |
| MT | m.7299A>G | CA337097598 | MT-CO1 | c.1396A>G (p.Ile466Val) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.7299A>T | CA414792276 | MT-CO1 | c.1396A>T (p.Ile466Leu) | |
| MT | m.7300T>A | CA414792278 | MT-CO1 | c.1397T>A (p.Ile466Lys) | |
| MT | m.7300T>C | CA414792279 | MT-CO1 | c.1397T>C (p.Ile466Thr) | ClinVar dbSNP |
| MT | m.7300T>G | CA414792281 | MT-CO1 | c.1397T>G (p.Ile466Arg) | |
| MT | m.7300T= | CA2499565110 | MT-CO1 | c.1397T= (p.Ile466=) | |
| MT | m.7301A= | CA2499565111 | MT-CO1 | c.1398A= (p.Ile466=) | |
| MT | m.7301A>C | CA913176910 | MT-CO1 | c.1398A>C (p.Ile466=) | |
| MT | m.7301A>G | CA414792283 | MT-CO1 | c.1398A>G (p.Ile466Met) | dbSNP |
| MT | m.7301A>T | CA913176911 | MT-CO1 | c.1398A>T (p.Ile466=) | |
| MT | m.7302T>A | CA414792285 | MT-CO1 | c.1399T>A (p.Leu467Ile) | |
| MT | m.7302T>C | CA913176912 | MT-CO1 | c.1399T>C (p.Leu467=) | dbSNP |
| MT | m.7302T>G | CA414792287 | MT-CO1 | c.1399T>G (p.Leu467Val) | |
| MT | m.7302T= | CA2499565112 | MT-CO1 | c.1399T= (p.Leu467=) | |
| MT | m.7303T>A | CA414792289 | MT-CO1 | c.1400T>A (p.Leu467Ter) | |
| MT | m.7303T>C | CA414792291 | MT-CO1 | c.1400T>C (p.Leu467Ser) | |
| MT | m.7303T>G | CA414792293 | MT-CO1 | c.1400T>G (p.Leu467Ter) | |
| MT | m.7303T= | CA2573327085 | MT-CO1 | c.1400T= (p.Leu467=) | |
| MT | m.7304A= | CA2499565113 | MT-CO1 | c.1401A= (p.Leu467=) | |
| MT | m.7304A>C | CA414792295 | MT-CO1 | c.1401A>C (p.Leu467Phe) | |
| MT | m.7304A>G | CA913176913 | MT-CO1 | c.1401A>G (p.Leu467=) | dbSNP |
| MT | m.7304A>T | CA414792296 | MT-CO1 | c.1401A>T (p.Leu467Phe) | |
| MT | m.7305A= | CA2573327087 | MT-CO1 | c.1402A= (p.Ile468=) | |
| MT | m.7305A>C | CA414792299 | MT-CO1 | c.1402A>C (p.Ile468Leu) | |
| MT | m.7305A>G | CA414792302 | MT-CO1 | c.1402A>G (p.Ile468Val) | |
| MT | m.7305A>T | CA414792301 | MT-CO1 | c.1402A>T (p.Ile468Leu) | |
| MT | m.7306T>A | CA414792304 | MT-CO1 | c.1403T>A (p.Ile468Lys) | |
| MT | m.7306T>C | CA414792306 | MT-CO1 | c.1403T>C (p.Ile468Thr) | |
| MT | m.7306T>G | CA414792308 | MT-CO1 | c.1403T>G (p.Ile468Arg) | |
| MT | m.7306T= | CA2573327090 | MT-CO1 | c.1403T= (p.Ile468=) | |
| MT | m.7307A= | CA2573327093 | MT-CO1 | c.1404A= (p.Ile468=) | |
| MT | m.7307A>C | CA913176915 | MT-CO1 | c.1404A>C (p.Ile468=) | |
| MT | m.7307A>G | CA414792310 | MT-CO1 | c.1404A>G (p.Ile468Met) | |
| MT | m.7307A>T | CA913176914 | MT-CO1 | c.1404A>T (p.Ile468=) | |
| MT | m.7308A= | CA2499565114 | MT-CO1 | c.1405A= (p.Ile469=) | |
| MT | m.7308A>C | CA414792313 | MT-CO1 | c.1405A>C (p.Ile469Leu) | |
| MT | m.7308A>G | CA414792314 | MT-CO1 | c.1405A>G (p.Ile469Val) | dbSNP |
| MT | m.7308A>T | CA414792316 | MT-CO1 | c.1405A>T (p.Ile469Phe) | dbSNP |
| MT | m.7309T>A | CA414792319 | MT-CO1 | c.1406T>A (p.Ile469Asn) | |
| MT | m.7309T>C | CA414792320 | MT-CO1 | c.1406T>C (p.Ile469Thr) | ClinVar dbSNP |
| MT | m.7309T>G | CA414792322 | MT-CO1 | c.1406T>G (p.Ile469Ser) | |
| MT | m.7309T= | CA2499565115 | MT-CO1 | c.1406T= (p.Ile469=) | |
| MT | m.7310T>A | CA913176916 | MT-CO1 | c.1407T>A (p.Ile469=) | |
| MT | m.7310T>C | CA913176917 | MT-CO1 | c.1407T>C (p.Ile469=) | dbSNP |
| MT | m.7310T>G | CA414792324 | MT-CO1 | c.1407T>G (p.Ile469Met) | |
| MT | m.7310T= | CA2499565116 | MT-CO1 | c.1407T= (p.Ile469=) | |
| MT | m.7311T>A | CA414792326 | MT-CO1 | c.1408T>A (p.Phe470Ile) | |
| MT | m.7311T>C | CA414792331 | MT-CO1 | c.1408T>C (p.Phe470Leu) | |
| MT | m.7311T>G | CA414792328 | MT-CO1 | c.1408T>G (p.Phe470Val) | |
| MT | m.7311T= | CA2573327106 | MT-CO1 | c.1408T= (p.Phe470=) | |
| MT | m.7312T>A | CA414792333 | MT-CO1 | c.1409T>A (p.Phe470Tyr) | |
| MT | m.7312T>C | CA414792335 | MT-CO1 | c.1409T>C (p.Phe470Ser) | |
| MT | m.7312T>G | CA414792336 | MT-CO1 | c.1409T>G (p.Phe470Cys) | |
| MT | m.7312T= | CA2573327110 | MT-CO1 | c.1409T= (p.Phe470=) | |
| MT | m.7313C>A | CA414792339 | MT-CO1 | c.1410C>A (p.Phe470Leu) | |
| MT | m.7313C= | CA2573327113 | MT-CO1 | c.1410C= (p.Phe470=) | |
| MT | m.7313C>G | CA414792340 | MT-CO1 | c.1410C>G (p.Phe470Leu) | |
| MT | m.7313C>T | CA913176922 | MT-CO1 | c.1410C>T (p.Phe470=) | |
| MT | m.7314A= | CA2573327116 | MT-CO1 | c.1411A= (p.Met471=) | |
| MT | m.7314A>C | CA414792342 | MT-CO1 | c.1411A>C (p.Met471Leu) | |
| MT | m.7314A>G | CA414792344 | MT-CO1 | c.1411A>G (p.Met471Val) | |
| MT | m.7314A>T | CA414792346 | MT-CO1 | c.1411A>T (p.Met471Leu) | |
| MT | m.7315T>A | CA414792348 | MT-CO1 | c.1412T>A (p.Met471Lys) | |
| MT | m.7315T>C | CA414792349 | MT-CO1 | c.1412T>C (p.Met471Thr) | |
| MT | m.7315T>G | CA414792351 | MT-CO1 | c.1412T>G (p.Met471Arg) | |
| MT | m.7315T= | CA2573327119 | MT-CO1 | c.1412T= (p.Met471=) | |
| MT | m.7316G>A | CA337097600 | MT-CO1 | c.1413G>A (p.Met471Ile) | dbSNP |
| MT | m.7316G>C | CA414792355 | MT-CO1 | c.1413G>C (p.Met471Ile) | |
| MT | m.7316G= | CA2499565117 | MT-CO1 | c.1413G= (p.Met471=) | |
| MT | m.7316G>T | CA414792354 | MT-CO1 | c.1413G>T (p.Met471Ile) | |
| MT | m.7317A= | CA2499565118 | MT-CO1 | c.1414A= (p.Ile472=) | |
| MT | m.7317A>C | CA414792359 | MT-CO1 | c.1414A>C (p.Ile472Leu) | |
| MT | m.7317A>G | CA414792360 | MT-CO1 | c.1414A>G (p.Ile472Val) | dbSNP |
| MT | m.7317A>T | CA414792362 | MT-CO1 | c.1414A>T (p.Ile472Phe) | |
| MT | m.7318T>A | CA414792365 | MT-CO1 | c.1415T>A (p.Ile472Asn) | |
| MT | m.7318T>C | CA414792366 | MT-CO1 | c.1415T>C (p.Ile472Thr) | |
| MT | m.7318T>G | CA414792368 | MT-CO1 | c.1415T>G (p.Ile472Ser) | |
| MT | m.7318T= | CA2573327127 | MT-CO1 | c.1415T= (p.Ile472=) | |
| MT | m.7319T>A | CA913176926 | MT-CO1 | c.1416T>A (p.Ile472=) | |
| MT | m.7319T>C | CA913176927 | MT-CO1 | c.1416T>C (p.Ile472=) | dbSNP |
| MT | m.7319T>G | CA414792371 | MT-CO1 | c.1416T>G (p.Ile472Met) | |
| MT | m.7319T= | CA2499565119 | MT-CO1 | c.1416T= (p.Ile472=) | |
| MT | m.7320T>A | CA414792372 | MT-CO1 | c.1417T>A (p.Ter473Arg) | |
| MT | m.7320T>C | CA414792374 | MT-CO1 | c.1417T>C (p.Ter473Arg) | |
| MT | m.7320T>G | CA414792376 | MT-CO1 | c.1417T>G (p.Ter473Gly) | |
| MT | m.7320T= | CA414792378 | MT-CO1 | c.1417T= (p.Ter473=) | |
| MT | m.7321G>A | CA414792386 | MT-CO1 | c.1418G>A (p.Ter473=) | |
| MT | m.7321G>C | CA414792381 | MT-CO1 | c.1418G>C (p.Ter473Ser) | |
| MT | m.7321G= | CA414792384 | MT-CO1 | c.1418G= (p.Ter473=) | |
| MT | m.7321G>T | CA414792383 | MT-CO1 | c.1418G>T (p.Ter473Leu) | |
| MT | m.7321_7322insT | CA2573104841 | MT-CO1 | c.1418_1419insT (p.Ter473CysextTer?) | |
| MT | m.7322A= | CA414792390 | MT-CO1 | c.1419A= (p.Ter473=) | |
| MT | m.7322A>C | CA414792389 | MT-CO1 | c.1419A>C (p.Ter473Cys) | |
| MT | m.7322A>G | CA414792394 | MT-CO1 | c.1419A>G (p.Ter473Trp) | |
| MT | m.7322A>T | CA414792392 | MT-CO1 | c.1419A>T (p.Ter473Cys) | |
| MT | m.7323G>A | CA414792396 | MT-CO1 | c.1420G>A (p.Glu474Lys) | |
| MT | m.7323G>C | CA414792398 | MT-CO1 | c.1420G>C (p.Glu474Gln) | |
| MT | m.7323G= | CA2573327140 | MT-CO1 | c.1420G= (p.Glu474=) | |
| MT | m.7323G>T | CA414792397 | MT-CO1 | c.1420G>T (p.Glu474Ter) | |
| MT | m.7324A= | CA2573327143 | MT-CO1 | c.1421A= (p.Glu474=) | |
| MT | m.7324A>C | CA414792401 | MT-CO1 | c.1421A>C (p.Glu474Ala) | |
| MT | m.7324A>G | CA414792403 | MT-CO1 | c.1421A>G (p.Glu474Gly) | |
| MT | m.7324A>T | CA414792404 | MT-CO1 | c.1421A>T (p.Glu474Val) | |
| MT | m.7325A= | CA2499565120 | MT-CO1 | c.1422A= (p.Glu474=) | |
| MT | m.7325A>C | CA414792407 | MT-CO1 | c.1422A>C (p.Glu474Asp) | |
| MT | m.7325A>G | CA913176932 | MT-CO1 | c.1422A>G (p.Glu474=) | dbSNP |
| MT | m.7325A>T | CA414792409 | MT-CO1 | c.1422A>T (p.Glu474Asp) | |
| MT | m.7326G>A | CA414792411 | MT-CO1 | c.1423G>A (p.Ala475Thr) | |
| MT | m.7326G>C | CA414792413 | MT-CO1 | c.1423G>C (p.Ala475Pro) | |
| MT | m.7326G= | CA2573327145 | MT-CO1 | c.1423G= (p.Ala475=) | |
| MT | m.7326G>T | CA414792415 | MT-CO1 | c.1423G>T (p.Ala475Ser) | |
| MT | m.7327C>A | CA414792417 | MT-CO1 | c.1424C>A (p.Ala475Asp) | |
| MT | m.7327C= | CA2573327147 | MT-CO1 | c.1424C= (p.Ala475=) | |
| MT | m.7327C>G | CA414792419 | MT-CO1 | c.1424C>G (p.Ala475Gly) | |
| MT | m.7327C>T | CA414792421 | MT-CO1 | c.1424C>T (p.Ala475Val) | |
| MT | m.7328C>A | CA913176933 | MT-CO1 | c.1425C>A (p.Ala475=) | |
| MT | m.7328C= | CA2573327150 | MT-CO1 | c.1425C= (p.Ala475=) | |
| MT | m.7328C>G | CA913176934 | MT-CO1 | c.1425C>G (p.Ala475=) | |
| MT | m.7328C>T | CA913176935 | MT-CO1 | c.1425C>T (p.Ala475=) | |
| MT | m.7329T>A | CA414792423 | MT-CO1 | c.1426T>A (p.Phe476Ile) | |
| MT | m.7329T>C | CA414792427 | MT-CO1 | c.1426T>C (p.Phe476Leu) | dbSNP |
| MT | m.7329T>G | CA414792425 | MT-CO1 | c.1426T>G (p.Phe476Val) | |
| MT | m.7329T= | CA2499565121 | MT-CO1 | c.1426T= (p.Phe476=) | |
| MT | m.7330T>A | CA414792429 | MT-CO1 | c.1427T>A (p.Phe476Tyr) | |
| MT | m.7330T>C | CA414792431 | MT-CO1 | c.1427T>C (p.Phe476Ser) | |
| MT | m.7330T>G | CA414792433 | MT-CO1 | c.1427T>G (p.Phe476Cys) | |
| MT | m.7330T= | CA2573327155 | MT-CO1 | c.1427T= (p.Phe476=) | |
| MT | m.7331C>A | CA414792434 | MT-CO1 | c.1428C>A (p.Phe476Leu) | |
| MT | m.7331C= | CA2573327157 | MT-CO1 | c.1428C= (p.Phe476=) | |
| MT | m.7331C>G | CA414792436 | MT-CO1 | c.1428C>G (p.Phe476Leu) | |
| MT | m.7331C>T | CA913176936 | MT-CO1 | c.1428C>T (p.Phe476=) | dbSNP |
| MT | m.7332G>A | CA414792439 | MT-CO1 | c.1429G>A (p.Ala477Thr) | ClinVar dbSNP |
| MT | m.7332G>C | CA414792440 | MT-CO1 | c.1429G>C (p.Ala477Pro) | |
| MT | m.7332G= | CA2499565122 | MT-CO1 | c.1429G= (p.Ala477=) | |
| MT | m.7332G>T | CA414792442 | MT-CO1 | c.1429G>T (p.Ala477Ser) | |
| MT | m.7333C>A | CA414792448 | MT-CO1 | c.1430C>A (p.Ala477Asp) | |
| MT | m.7333C= | CA2573327162 | MT-CO1 | c.1430C= (p.Ala477=) | |
| MT | m.7333C>G | CA414792446 | MT-CO1 | c.1430C>G (p.Ala477Gly) | |
| MT | m.7333C>T | CA414792445 | MT-CO1 | c.1430C>T (p.Ala477Val) | |
| MT | m.7334T>A | CA913176937 | MT-CO1 | c.1431T>A (p.Ala477=) | |
| MT | m.7334T>C | CA913176938 | MT-CO1 | c.1431T>C (p.Ala477=) | dbSNP |
| MT | m.7334T>G | CA913176939 | MT-CO1 | c.1431T>G (p.Ala477=) | |
| MT | m.7334T= | CA2499565123 | MT-CO1 | c.1431T= (p.Ala477=) | |
| MT | m.7335T>A | CA414792451 | MT-CO1 | c.1432T>A (p.Ser478Thr) | |
| MT | m.7335T>C | CA414792452 | MT-CO1 | c.1432T>C (p.Ser478Pro) | |
| MT | m.7335T>G | CA414792454 | MT-CO1 | c.1432T>G (p.Ser478Ala) | |
| MT | m.7335T= | CA2573327164 | MT-CO1 | c.1432T= (p.Ser478=) | |
| MT | m.7336C>A | CA414792457 | MT-CO1 | c.1433C>A (p.Ser478Ter) | |
| MT | m.7336C= | CA2573327166 | MT-CO1 | c.1433C= (p.Ser478=) | |
| MT | m.7336C>G | CA414792458 | MT-CO1 | c.1433C>G (p.Ser478Trp) | |
| MT | m.7336C>T | CA414792460 | MT-CO1 | c.1433C>T (p.Ser478Leu) | |
| MT | m.7336_7337insA | CA2573104842 | MT-CO1 | c.1433_1434insA (p.Lys479GlufsTer?) | |
| MT | m.7337G>A | CA337097602 | MT-CO1 | c.1434G>A (p.Ser478=) | dbSNP |
| MT | m.7337G>C | CA913176942 | MT-CO1 | c.1434G>C (p.Ser478=) | |
| MT | m.7337G= | CA2499565124 | MT-CO1 | c.1434G= (p.Ser478=) | |
| MT | m.7337G>T | CA913176940 | MT-CO1 | c.1434G>T (p.Ser478=) | dbSNP |
| MT | m.7337dup | CA2573104843 | MT-CO1 | c.1434dup (p.Lys479GlufsTer?) | |
| MT | m.7338A= | CA2573327170 | MT-CO1 | c.1435A= (p.Lys479=) | |
| MT | m.7338A>C | CA414792464 | MT-CO1 | c.1435A>C (p.Lys479Gln) | |
| MT | m.7338A>G | CA414792466 | MT-CO1 | c.1435A>G (p.Lys479Glu) | |
| MT | m.7338A>T | CA414792468 | MT-CO1 | c.1435A>T (p.Lys479Ter) | |
| MT | m.7339A= | CA2573327172 | MT-CO1 | c.1436A= (p.Lys479=) | |
| MT | m.7339A>C | CA414792474 | MT-CO1 | c.1436A>C (p.Lys479Thr) | |
| MT | m.7339A>G | CA414792472 | MT-CO1 | c.1436A>G (p.Lys479Arg) | |
| MT | m.7339A>T | CA414792471 | MT-CO1 | c.1436A>T (p.Lys479Met) | |
| MT | m.7340G>A | CA337097604 | MT-CO1 | c.1437G>A (p.Lys479=) | dbSNP |
| MT | m.7340G>C | CA414792478 | MT-CO1 | c.1437G>C (p.Lys479Asn) | |
| MT | m.7340G= | CA2499565125 | MT-CO1 | c.1437G= (p.Lys479=) | |
| MT | m.7340G>T | CA414792479 | MT-CO1 | c.1437G>T (p.Lys479Asn) | |
| MT | m.7341C>A | CA913176945 | MT-CO1 | c.1438C>A (p.Arg480=) | |
| MT | m.7341C= | CA2573327175 | MT-CO1 | c.1438C= (p.Arg480=) | |
| MT | m.7341C>G | CA414792482 | MT-CO1 | c.1438C>G (p.Arg480Gly) | |
| MT | m.7341C>T | CA414792483 | MT-CO1 | c.1438C>T (p.Arg480Ter) | |
| MT | m.7342G>A | CA414792485 | MT-CO1 | c.1439G>A (p.Arg480Gln) | dbSNP |
| MT | m.7342G>C | CA414792487 | MT-CO1 | c.1439G>C (p.Arg480Pro) | |
| MT | m.7342G= | CA2499565126 | MT-CO1 | c.1439G= (p.Arg480=) | |
| MT | m.7342G>T | CA414792489 | MT-CO1 | c.1439G>T (p.Arg480Leu) | |
| MT | m.7343A= | CA2573327178 | MT-CO1 | c.1440A= (p.Arg480=) | |
| MT | m.7343A>C | CA913176949 | MT-CO1 | c.1440A>C (p.Arg480=) | |
| MT | m.7343A>G | CA913176951 | MT-CO1 | c.1440A>G (p.Arg480=) | |
| MT | m.7343A>T | CA913176947 | MT-CO1 | c.1440A>T (p.Arg480=) | |
| MT | m.7346dup | CA2573104844 | MT-CO1 | c.1443dup (p.Val482SerfsTer?) | |
| MT | m.7346del | CA2573104845 | MT-CO1 | c.1443del (p.Val482SerfsTer2) | |
| MT | m.7344A= | CA2573327179 | MT-CO1 | c.1441A= (p.Lys481=) | |
| MT | m.7344A>C | CA414792490 | MT-CO1 | c.1441A>C (p.Lys481Gln) | |
| MT | m.7344A>G | CA414792492 | MT-CO1 | c.1441A>G (p.Lys481Glu) | |
| MT | m.7344A>T | CA414792494 | MT-CO1 | c.1441A>T (p.Lys481Ter) | |
| MT | m.7345A= | CA2573327180 | MT-CO1 | c.1442A= (p.Lys481=) | |
| MT | m.7345A>C | CA414792499 | MT-CO1 | c.1442A>C (p.Lys481Thr) | |
| MT | m.7345A>G | CA414792497 | MT-CO1 | c.1442A>G (p.Lys481Arg) | |
| MT | m.7345A>T | CA414792496 | MT-CO1 | c.1442A>T (p.Lys481Ile) | |
| MT | m.7346A= | CA2573327183 | MT-CO1 | c.1443A= (p.Lys481=) | |
| MT | m.7346A>C | CA414792501 | MT-CO1 | c.1443A>C (p.Lys481Asn) | |
| MT | m.7346A>G | CA913176955 | MT-CO1 | c.1443A>G (p.Lys481=) | dbSNP |
| MT | m.7346A>T | CA414792503 | MT-CO1 | c.1443A>T (p.Lys481Asn) | |
| MT | m.7347G>A | CA414792505 | MT-CO1 | c.1444G>A (p.Val482Ile) | ClinVar dbSNP |
| MT | m.7347G>C | CA414792507 | MT-CO1 | c.1444G>C (p.Val482Leu) | |
| MT | m.7347G= | CA2499565127 | MT-CO1 | c.1444G= (p.Val482=) | |
| MT | m.7347G>T | CA414792509 | MT-CO1 | c.1444G>T (p.Val482Phe) | |
| MT | m.7348T>A | CA414792511 | MT-CO1 | c.1445T>A (p.Val482Asp) | |
| MT | m.7348T>C | CA414792512 | MT-CO1 | c.1445T>C (p.Val482Ala) | dbSNP |
| MT | m.7348T>G | CA414792514 | MT-CO1 | c.1445T>G (p.Val482Gly) | |
| MT | m.7348T= | CA2499565128 | MT-CO1 | c.1445T= (p.Val482=) | |
| MT | m.7349C>A | CA913176956 | MT-CO1 | c.1446C>A (p.Val482=) | dbSNP |
| MT | m.7349C= | CA2499565129 | MT-CO1 | c.1446C= (p.Val482=) | |
| MT | m.7349C>G | CA913176957 | MT-CO1 | c.1446C>G (p.Val482=) | |
| MT | m.7349C>T | CA913176958 | MT-CO1 | c.1446C>T (p.Val482=) | dbSNP |
| MT | m.7350C>A | CA414792516 | MT-CO1 | c.1447C>A (p.Leu483Ile) | |
| MT | m.7350C= | CA2573327191 | MT-CO1 | c.1447C= (p.Leu483=) | |
| MT | m.7350C>G | CA414792518 | MT-CO1 | c.1447C>G (p.Leu483Val) | |
| MT | m.7350C>T | CA913176959 | MT-CO1 | c.1447C>T (p.Leu483=) | |
| MT | m.7351T>A | CA414792520 | MT-CO1 | c.1448T>A (p.Leu483Gln) | |
| MT | m.7351T>C | CA414792522 | MT-CO1 | c.1448T>C (p.Leu483Pro) | |
| MT | m.7351T>G | CA414792524 | MT-CO1 | c.1448T>G (p.Leu483Arg) | |
| MT | m.7351T= | CA2573327194 | MT-CO1 | c.1448T= (p.Leu483=) | |
| MT | m.7352A= | CA2499565130 | MT-CO1 | c.1449A= (p.Leu483=) | |
| MT | m.7352A>C | CA913176962 | MT-CO1 | c.1449A>C (p.Leu483=) | |
| MT | m.7352A>G | CA913176961 | MT-CO1 | c.1449A>G (p.Leu483=) | dbSNP |
| MT | m.7352A>T | CA913176960 | MT-CO1 | c.1449A>T (p.Leu483=) | dbSNP |
| MT | m.7353A= | CA2499565131 | MT-CO1 | c.1450A= (p.Ile484=) | |
| MT | m.7353A>C | CA414792530 | MT-CO1 | c.1450A>C (p.Ile484Leu) | |
| MT | m.7353A>G | CA414792526 | MT-CO1 | c.1450A>G (p.Ile484Val) | dbSNP |
| MT | m.7353A>T | CA414792528 | MT-CO1 | c.1450A>T (p.Ile484Leu) | |
| MT | m.7354T>A | CA414792532 | MT-CO1 | c.1451T>A (p.Ile484Lys) | |
| MT | m.7354T>C | CA414792534 | MT-CO1 | c.1451T>C (p.Ile484Thr) | dbSNP |
| MT | m.7354T>G | CA414792536 | MT-CO1 | c.1451T>G (p.Ile484Arg) | |
| MT | m.7354T= | CA2499565132 | MT-CO1 | c.1451T= (p.Ile484=) | |
| MT | m.7357_7359del | CA2573104846 | MT-CO1 | c.1454_1456del (p.Val485del) | |
| MT | m.7355A= | CA2573327200 | MT-CO1 | c.1452A= (p.Ile484=) | |
| MT | m.7355A>C | CA913176965 | MT-CO1 | c.1452A>C (p.Ile484=) | |
| MT | m.7355A>G | CA414792537 | MT-CO1 | c.1452A>G (p.Ile484Met) | |
| MT | m.7355A>T | CA913176966 | MT-CO1 | c.1452A>T (p.Ile484=) | |
| MT | m.7356G>A | CA414792540 | MT-CO1 | c.1453G>A (p.Val485Ile) | ClinVar dbSNP |
| MT | m.7356G>C | CA414792542 | MT-CO1 | c.1453G>C (p.Val485Leu) | |
| MT | m.7356G= | CA2499565133 | MT-CO1 | c.1453G= (p.Val485=) | |
| MT | m.7356G>T | CA414792543 | MT-CO1 | c.1453G>T (p.Val485Leu) | |
| MT | m.7357T>A | CA414792546 | MT-CO1 | c.1454T>A (p.Val485Glu) | |
| MT | m.7357T>C | CA414792548 | MT-CO1 | c.1454T>C (p.Val485Ala) | ClinVar dbSNP |
| MT | m.7357T>G | CA414792549 | MT-CO1 | c.1454T>G (p.Val485Gly) | |
| MT | m.7357T= | CA2499565134 | MT-CO1 | c.1454T= (p.Val485=) | |
| MT | m.7358A= | CA2499565135 | MT-CO1 | c.1455A= (p.Val485=) | |
| MT | m.7358A>C | CA913176970 | MT-CO1 | c.1455A>C (p.Val485=) | |
| MT | m.7358A>G | CA913176969 | MT-CO1 | c.1455A>G (p.Val485=) | dbSNP |
| MT | m.7358A>T | CA913176968 | MT-CO1 | c.1455A>T (p.Val485=) | |
| MT | m.7359G>A | CA414792555 | MT-CO1 | c.1456G>A (p.Glu486Lys) | |
| MT | m.7359G>C | CA414792553 | MT-CO1 | c.1456G>C (p.Glu486Gln) | |
| MT | m.7359G= | CA2573327211 | MT-CO1 | c.1456G= (p.Glu486=) | |
| MT | m.7359G>T | CA414792551 | MT-CO1 | c.1456G>T (p.Glu486Ter) | |
| MT | m.7360A= | CA2573327212 | MT-CO1 | c.1457A= (p.Glu486=) | |
| MT | m.7360A>C | CA414792557 | MT-CO1 | c.1457A>C (p.Glu486Ala) | |
| MT | m.7360A>G | CA414792559 | MT-CO1 | c.1457A>G (p.Glu486Gly) | |
| MT | m.7360A>T | CA414792561 | MT-CO1 | c.1457A>T (p.Glu486Val) | |
| MT | m.7361A= | CA2573327214 | MT-CO1 | c.1458A= (p.Glu486=) | |
| MT | m.7361A>C | CA414792563 | MT-CO1 | c.1458A>C (p.Glu486Asp) | |
| MT | m.7361A>G | CA913176971 | MT-CO1 | c.1458A>G (p.Glu486=) | |
| MT | m.7361A>T | CA414792565 | MT-CO1 | c.1458A>T (p.Glu486Asp) | |
| MT | m.7362G>A | CA414792567 | MT-CO1 | c.1459G>A (p.Glu487Lys) | ClinVar dbSNP |
| MT | m.7362G>C | CA414792568 | MT-CO1 | c.1459G>C (p.Glu487Gln) | |
| MT | m.7362G= | CA2499565136 | MT-CO1 | c.1459G= (p.Glu487=) | |
| MT | m.7362G>T | CA414792570 | MT-CO1 | c.1459G>T (p.Glu487Ter) | |
| MT | m.7363A= | CA2499565137 | MT-CO1 | c.1460A= (p.Glu487=) | |
| MT | m.7363A>C | CA414792572 | MT-CO1 | c.1460A>C (p.Glu487Ala) | |
| MT | m.7363A>G | CA414792574 | MT-CO1 | c.1460A>G (p.Glu487Gly) | ClinVar dbSNP |
| MT | m.7363A>T | CA414792576 | MT-CO1 | c.1460A>T (p.Glu487Val) | |
| MT | m.7364A= | CA2499565138 | MT-CO1 | c.1461A= (p.Glu487=) | |
| MT | m.7364A>C | CA414792580 | MT-CO1 | c.1461A>C (p.Glu487Asp) | |
| MT | m.7364A>G | CA337097606 | MT-CO1 | c.1461A>G (p.Glu487=) | dbSNP COSMIC COSMIC |
| MT | m.7364A>T | CA414792578 | MT-CO1 | c.1461A>T (p.Glu487Asp) | |
| MT | m.7365C>A | CA414792583 | MT-CO1 | c.1462C>A (p.Pro488Thr) | ClinVar dbSNP |
| MT | m.7365C= | CA2499565139 | MT-CO1 | c.1462C= (p.Pro488=) | |
| MT | m.7365C>G | CA414792584 | MT-CO1 | c.1462C>G (p.Pro488Ala) | |
| MT | m.7365C>T | CA414792585 | MT-CO1 | c.1462C>T (p.Pro488Ser) | dbSNP |
| MT | m.7366C>A | CA414792588 | MT-CO1 | c.1463C>A (p.Pro488His) | |
| MT | m.7366C= | CA2573327224 | MT-CO1 | c.1463C= (p.Pro488=) | |
| MT | m.7366C>G | CA414792590 | MT-CO1 | c.1463C>G (p.Pro488Arg) | |
| MT | m.7366C>T | CA414792591 | MT-CO1 | c.1463C>T (p.Pro488Leu) | |
| MT | m.7367C>A | CA913176973 | MT-CO1 | c.1464C>A (p.Pro488=) | |
| MT | m.7367C= | CA2573327227 | MT-CO1 | c.1464C= (p.Pro488=) | |
| MT | m.7367C>G | CA913176974 | MT-CO1 | c.1464C>G (p.Pro488=) | |
| MT | m.7367C>T | CA913176975 | MT-CO1 | c.1464C>T (p.Pro488=) | |
| MT | m.7368T>A | CA414792594 | MT-CO1 | c.1465T>A (p.Ser489Thr) | |
| MT | m.7368T>C | CA414792595 | MT-CO1 | c.1465T>C (p.Ser489Pro) | |
| MT | m.7368T>G | CA414792597 | MT-CO1 | c.1465T>G (p.Ser489Ala) | |
| MT | m.7368T= | CA2573327228 | MT-CO1 | c.1465T= (p.Ser489=) | |
| MT | m.7369C>A | CA414792599 | MT-CO1 | c.1466C>A (p.Ser489Tyr) | |
| MT | m.7369C= | CA2499565140 | MT-CO1 | c.1466C= (p.Ser489=) | |
| MT | m.7369C>G | CA414792601 | MT-CO1 | c.1466C>G (p.Ser489Cys) | dbSNP |
| MT | m.7369C>T | CA414792603 | MT-CO1 | c.1466C>T (p.Ser489Phe) | |
| MT | m.7370C>A | CA913176980 | MT-CO1 | c.1467C>A (p.Ser489=) | |
| MT | m.7370C= | CA2573327229 | MT-CO1 | c.1467C= (p.Ser489=) | |
| MT | m.7370C>G | CA913176978 | MT-CO1 | c.1467C>G (p.Ser489=) | |
| MT | m.7370C>T | CA913176979 | MT-CO1 | c.1467C>T (p.Ser489=) | dbSNP |
| MT | m.7371A= | CA2499565141 | MT-CO1 | c.1468A= (p.Ile490=) | |
| MT | m.7371A>C | CA414792607 | MT-CO1 | c.1468A>C (p.Ile490Leu) | |
| MT | m.7371A>G | CA414792609 | MT-CO1 | c.1468A>G (p.Ile490Val) | dbSNP |
| MT | m.7371A>T | CA414792605 | MT-CO1 | c.1468A>T (p.Ile490Leu) | |
| MT | m.7372T>A | CA414792611 | MT-CO1 | c.1469T>A (p.Ile490Lys) | |
| MT | m.7372T>C | CA414792614 | MT-CO1 | c.1469T>C (p.Ile490Thr) | dbSNP |
| MT | m.7372T>G | CA414792612 | MT-CO1 | c.1469T>G (p.Ile490Arg) | |
| MT | m.7372T= | CA2499565142 | MT-CO1 | c.1469T= (p.Ile490=) | |
| MT | m.7372_7373insC | CA2573104847 | MT-CO1 | c.1469_1470insC (p.Asn491LysfsTer24) | |
| MT | m.7373A= | CA2499565143 | MT-CO1 | c.1470A= (p.Ile490=) | |
| MT | m.7373A>C | CA913176987 | MT-CO1 | c.1470A>C (p.Ile490=) | |
| MT | m.7373A>G | CA16040648 | MT-CO1 | c.1470A>G (p.Ile490Met) | ClinVar dbSNP |
| MT | m.7373A>T | CA913176984 | MT-CO1 | c.1470A>T (p.Ile490=) | |
| MT | m.7374A= | CA2499565144 | MT-CO1 | c.1471A= (p.Asn491=) | |
| MT | m.7374A>C | CA414792617 | MT-CO1 | c.1471A>C (p.Asn491His) | |
| MT | m.7374A>G | CA414792616 | MT-CO1 | c.1471A>G (p.Asn491Asp) | ClinVar dbSNP |
| MT | m.7374A>T | CA414792619 | MT-CO1 | c.1471A>T (p.Asn491Tyr) | |
| MT | m.7375A= | CA2499565145 | MT-CO1 | c.1472A= (p.Asn491=) | |
| MT | m.7375A>C | CA414792622 | MT-CO1 | c.1472A>C (p.Asn491Thr) | |
| MT | m.7375A>G | CA414792623 | MT-CO1 | c.1472A>G (p.Asn491Ser) | dbSNP |
| MT | m.7375A>T | CA414792625 | MT-CO1 | c.1472A>T (p.Asn491Ile) | |
| MT | m.7376C>A | CA414792627 | MT-CO1 | c.1473C>A (p.Asn491Lys) | |
| MT | m.7376C= | CA2499565146 | MT-CO1 | c.1473C= (p.Asn491=) | |
| MT | m.7376C>G | CA414792629 | MT-CO1 | c.1473C>G (p.Asn491Lys) | |
| MT | m.7376C>T | CA913176989 | MT-CO1 | c.1473C>T (p.Asn491=) | dbSNP |
| MT | m.7377C>A | CA414792630 | MT-CO1 | c.1474C>A (p.Leu492Met) | |
| MT | m.7377C= | CA2573327237 | MT-CO1 | c.1474C= (p.Leu492=) | |
| MT | m.7377C>G | CA414792632 | MT-CO1 | c.1474C>G (p.Leu492Val) | |
| MT | m.7377C>T | CA913176990 | MT-CO1 | c.1474C>T (p.Leu492=) | |
| MT | m.7378T>A | CA414792634 | MT-CO1 | c.1475T>A (p.Leu492Gln) | |
| MT | m.7378T>C | CA414792636 | MT-CO1 | c.1475T>C (p.Leu492Pro) | |
| MT | m.7378T>G | CA414792637 | MT-CO1 | c.1475T>G (p.Leu492Arg) | |
| MT | m.7378T= | CA2573327240 | MT-CO1 | c.1475T= (p.Leu492=) | |
| MT | m.7379G>A | CA913176992 | MT-CO1 | c.1476G>A (p.Leu492=) | dbSNP |
| MT | m.7379G>C | CA913176991 | MT-CO1 | c.1476G>C (p.Leu492=) | |
| MT | m.7379G= | CA2499565147 | MT-CO1 | c.1476G= (p.Leu492=) | |
| MT | m.7379G>T | CA913176993 | MT-CO1 | c.1476G>T (p.Leu492=) | |
| MT | m.7379_7380insTTTTT | CA2573104848 | MT-CO1 | c.1476_1477insTTTTT (p.Glu493PhefsTer21) | |
| MT | m.7380G>A | CA414792643 | MT-CO1 | c.1477G>A (p.Glu493Lys) | dbSNP |
| MT | m.7380G>C | CA414792640 | MT-CO1 | c.1477G>C (p.Glu493Gln) | |
| MT | m.7380G= | CA2499565148 | MT-CO1 | c.1477G= (p.Glu493=) | |
| MT | m.7380G>T | CA414792642 | MT-CO1 | c.1477G>T (p.Glu493Ter) | |
| MT | m.7381A= | CA2573327247 | MT-CO1 | c.1478A= (p.Glu493=) | |
| MT | m.7381A>C | CA414792645 | MT-CO1 | c.1478A>C (p.Glu493Ala) | |
| MT | m.7381A>G | CA414792647 | MT-CO1 | c.1478A>G (p.Glu493Gly) | |
| MT | m.7381A>T | CA414792649 | MT-CO1 | c.1478A>T (p.Glu493Val) | |
| MT | m.7382G>A | CA913176995 | MT-CO1 | c.1479G>A (p.Glu493=) | dbSNP |
| MT | m.7382G>C | CA414792651 | MT-CO1 | c.1479G>C (p.Glu493Asp) | |
| MT | m.7382G= | CA2499565149 | MT-CO1 | c.1479G= (p.Glu493=) | |
| MT | m.7382G>T | CA414792652 | MT-CO1 | c.1479G>T (p.Glu493Asp) | |
| MT | m.7383T>A | CA414792654 | MT-CO1 | c.1480T>A (p.Ter494Arg) | |
| MT | m.7383T>C | CA414792656 | MT-CO1 | c.1480T>C (p.Ter494Arg) | |
| MT | m.7383T>G | CA414792658 | MT-CO1 | c.1480T>G (p.Ter494Gly) | |
| MT | m.7383T= | CA414792660 | MT-CO1 | c.1480T= (p.Ter494=) | |
| MT | m.7384G>A | CA414792665 | MT-CO1 | c.1481G>A (p.Ter494=) | |
| MT | m.7384G>C | CA414792664 | MT-CO1 | c.1481G>C (p.Ter494Ser) | |
| MT | m.7384G= | CA414792666 | MT-CO1 | c.1481G= (p.Ter494=) | |
| MT | m.7384G>T | CA414792662 | MT-CO1 | c.1481G>T (p.Ter494Leu) | |
| MT | m.7385A= | CA414792668 | MT-CO1 | c.1482A= (p.Ter494=) | |
| MT | m.7385A>C | CA414792670 | MT-CO1 | c.1482A>C (p.Ter494Cys) | |
| MT | m.7385A>G | CA414792672 | MT-CO1 | c.1482A>G (p.Ter494Trp) | dbSNP |
| MT | m.7385A>T | CA414792673 | MT-CO1 | c.1482A>T (p.Ter494Cys) | |
| MT | m.7386_7388del | CA2573104849 | MT-CO1 | c.1483_1485del (p.Leu495del) | |
| MT | m.7386C>A | CA414792675 | MT-CO1 | c.1483C>A (p.Leu495Ile) | |
| MT | m.7386C= | CA2573327253 | MT-CO1 | c.1483C= (p.Leu495=) | |
| MT | m.7386C>G | CA414792677 | MT-CO1 | c.1483C>G (p.Leu495Val) | |
| MT | m.7386C>T | CA913176998 | MT-CO1 | c.1483C>T (p.Leu495=) | |
| MT | m.7387T>A | CA414792679 | MT-CO1 | c.1484T>A (p.Leu495Gln) | |
| MT | m.7387T>C | CA414792680 | MT-CO1 | c.1484T>C (p.Leu495Pro) | |
| MT | m.7387T>G | CA414792682 | MT-CO1 | c.1484T>G (p.Leu495Arg) | |
| MT | m.7387T= | CA2573327255 | MT-CO1 | c.1484T= (p.Leu495=) | |
| MT | m.7390_7391del | CA2573104850 | MT-CO1 | c.1487_1488del (p.Tyr496TrpfsTer18) |