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.11852G>A | CA337099317 | MT-ND4 | c.1093G>A (p.Ala365Thr) | dbSNP |
| MT | m.11852G>C | CA414811383 | MT-ND4 | c.1093G>C (p.Ala365Pro) | |
| MT | m.11852G= | CA2499567302 | MT-ND4 | c.1093G= (p.Ala365=) | |
| MT | m.11852G>T | CA414811385 | MT-ND4 | c.1093G>T (p.Ala365Ser) | |
| MT | m.11853C>A | CA414811391 | MT-ND4 | c.1094C>A (p.Ala365Asp) | |
| MT | m.11853C= | CA2512985349 | MT-ND4 | c.1094C= (p.Ala365=) | |
| MT | m.11853C>G | CA414811387 | MT-ND4 | c.1094C>G (p.Ala365Gly) | |
| MT | m.11853C>T | CA414811389 | MT-ND4 | c.1094C>T (p.Ala365Val) | |
| MT | m.11854T>A | CA913168931 | MT-ND4 | c.1095T>A (p.Ala365=) | |
| MT | m.11854T>C | CA913168926 | MT-ND4 | c.1095T>C (p.Ala365=) | dbSNP |
| MT | m.11854T>G | CA913168927 | MT-ND4 | c.1095T>G (p.Ala365=) | |
| MT | m.11854T= | CA2499567303 | MT-ND4 | c.1095T= (p.Ala365=) | |
| MT | m.11855A= | CA2573328466 | MT-ND4 | c.1096A= (p.Asn366=) | |
| MT | m.11855A>C | CA414811393 | MT-ND4 | c.1096A>C (p.Asn366His) | |
| MT | m.11855A>G | CA414811395 | MT-ND4 | c.1096A>G (p.Asn366Asp) | |
| MT | m.11855A>T | CA414811397 | MT-ND4 | c.1096A>T (p.Asn366Tyr) | |
| MT | m.11856A= | CA2499567304 | MT-ND4 | c.1097A= (p.Asn366=) | |
| MT | m.11856A>C | CA414811398 | MT-ND4 | c.1097A>C (p.Asn366Thr) | |
| MT | m.11856A>G | CA414811400 | MT-ND4 | c.1097A>G (p.Asn366Ser) | dbSNP |
| MT | m.11856A>T | CA414811402 | MT-ND4 | c.1097A>T (p.Asn366Ile) | |
| MT | m.11857C>A | CA414811404 | MT-ND4 | c.1098C>A (p.Asn366Lys) | |
| MT | m.11857C= | CA2499567305 | MT-ND4 | c.1098C= (p.Asn366=) | |
| MT | m.11857C>G | CA414811406 | MT-ND4 | c.1098C>G (p.Asn366Lys) | |
| MT | m.11857C>T | CA913168938 | MT-ND4 | c.1098C>T (p.Asn366=) | dbSNP |
| MT | m.11858C>A | CA414811409 | MT-ND4 | c.1099C>A (p.Leu367Ile) | |
| MT | m.11858C= | CA2573328471 | MT-ND4 | c.1099C= (p.Leu367=) | |
| MT | m.11858C>G | CA414811410 | MT-ND4 | c.1099C>G (p.Leu367Val) | |
| MT | m.11858C>T | CA414811412 | MT-ND4 | c.1099C>T (p.Leu367Phe) | |
| MT | m.11859T>A | CA414811416 | MT-ND4 | c.1100T>A (p.Leu367His) | |
| MT | m.11859T>C | CA414811418 | MT-ND4 | c.1100T>C (p.Leu367Pro) | |
| MT | m.11859T>G | CA414811414 | MT-ND4 | c.1100T>G (p.Leu367Arg) | |
| MT | m.11859T= | CA2573328474 | MT-ND4 | c.1100T= (p.Leu367=) | |
| MT | m.11860C>A | CA913168951 | MT-ND4 | c.1101C>A (p.Leu367=) | |
| MT | m.11860C= | CA2499567306 | MT-ND4 | c.1101C= (p.Leu367=) | |
| MT | m.11860C>G | CA913168950 | MT-ND4 | c.1101C>G (p.Leu367=) | |
| MT | m.11860C>T | CA913168944 | MT-ND4 | c.1101C>T (p.Leu367=) | dbSNP |
| MT | m.11861G>A | CA414811420 | MT-ND4 | c.1102G>A (p.Ala368Thr) | |
| MT | m.11861G>C | CA414811424 | MT-ND4 | c.1102G>C (p.Ala368Pro) | |
| MT | m.11861G= | CA2573328477 | MT-ND4 | c.1102G= (p.Ala368=) | |
| MT | m.11861G>T | CA414811422 | MT-ND4 | c.1102G>T (p.Ala368Ser) | |
| MT | m.11862C>A | CA414811426 | MT-ND4 | c.1103C>A (p.Ala368Asp) | |
| MT | m.11862C= | CA2573328479 | MT-ND4 | c.1103C= (p.Ala368=) | |
| MT | m.11862C>G | CA414811428 | MT-ND4 | c.1103C>G (p.Ala368Gly) | |
| MT | m.11862C>T | CA414811430 | MT-ND4 | c.1103C>T (p.Ala368Val) | |
| MT | m.11863C>A | CA913168960 | MT-ND4 | c.1104C>A (p.Ala368=) | |
| MT | m.11863C= | CA2573328480 | MT-ND4 | c.1104C= (p.Ala368=) | |
| MT | m.11863C>G | CA913168961 | MT-ND4 | c.1104C>G (p.Ala368=) | |
| MT | m.11863C>T | CA913168962 | MT-ND4 | c.1104C>T (p.Ala368=) | |
| MT | m.11864T>A | CA414811432 | MT-ND4 | c.1105T>A (p.Leu369Ile) | |
| MT | m.11864T>C | CA337099319 | MT-ND4 | c.1105T>C (p.Leu369=) | dbSNP |
| MT | m.11864T>G | CA414811435 | MT-ND4 | c.1105T>G (p.Leu369Val) | |
| MT | m.11864T= | CA2499567307 | MT-ND4 | c.1105T= (p.Leu369=) | |
| MT | m.11865T>A | CA414811438 | MT-ND4 | c.1106T>A (p.Leu369Ter) | |
| MT | m.11865T>C | CA414811439 | MT-ND4 | c.1106T>C (p.Leu369Ser) | dbSNP |
| MT | m.11865T>G | CA414811441 | MT-ND4 | c.1106T>G (p.Leu369Ter) | |
| MT | m.11865T= | CA2499567308 | MT-ND4 | c.1106T= (p.Leu369=) | |
| MT | m.11866A= | CA2573328482 | MT-ND4 | c.1107A= (p.Leu369=) | |
| MT | m.11866A>C | CA414811444 | MT-ND4 | c.1107A>C (p.Leu369Phe) | |
| MT | m.11866A>G | CA913168966 | MT-ND4 | c.1107A>G (p.Leu369=) | |
| MT | m.11866A>T | CA414811445 | MT-ND4 | c.1107A>T (p.Leu369Phe) | |
| MT | m.11866_11867delinsAC | CA2499567309 | MT-ND4 | c.1107_1108delinsAC (p.Leu369=) | |
| MT | m.11867C>A | CA414811451 | MT-ND4 | c.1108C>A (p.Pro370Thr) | |
| MT | m.11867C= | CA2573328483 | MT-ND4 | c.1108C= (p.Pro370=) | |
| MT | m.11867C>G | CA414811448 | MT-ND4 | c.1108C>G (p.Pro370Ala) | |
| MT | m.11867C>T | CA414811449 | MT-ND4 | c.1108C>T (p.Pro370Ser) | |
| MT | m.11872dup | CA920603134 | MT-ND4 | c.1113dup (p.Thr372HisfsTer3) | dbSNP |
| MT | m.11871_11872dup | CA2740098352 | MT-ND4 | c.1112_1113dup (p.Thr372ProfsTer12) | |
| MT | m.11872del | CA645611410 | MT-ND4 | c.1113del (p.Thr372LeufsTer11) | dbSNP COSMIC COSMIC |
| MT | m.11868C>A | CA414811453 | MT-ND4 | c.1109C>A (p.Pro370His) | |
| MT | m.11868C= | CA2573328486 | MT-ND4 | c.1109C= (p.Pro370=) | |
| MT | m.11868C>G | CA414811455 | MT-ND4 | c.1109C>G (p.Pro370Arg) | |
| MT | m.11868C>T | CA414811457 | MT-ND4 | c.1109C>T (p.Pro370Leu) | |
| MT | m.11869C>A | CA337099321 | MT-ND4 | c.1110C>A (p.Pro370=) | dbSNP |
| MT | m.11869C= | CA2499567310 | MT-ND4 | c.1110C= (p.Pro370=) | |
| MT | m.11869C>G | CA913168978 | MT-ND4 | c.1110C>G (p.Pro370=) | |
| MT | m.11869C>T | CA913168979 | MT-ND4 | c.1110C>T (p.Pro370=) | dbSNP |
| MT | m.11870C>A | CA414811461 | MT-ND4 | c.1111C>A (p.Pro371Thr) | |
| MT | m.11870C= | CA2573328488 | MT-ND4 | c.1111C= (p.Pro371=) | |
| MT | m.11870C>G | CA414811462 | MT-ND4 | c.1111C>G (p.Pro371Ala) | |
| MT | m.11870C>T | CA414811464 | MT-ND4 | c.1111C>T (p.Pro371Ser) | |
| MT | m.11871C>A | CA414811466 | MT-ND4 | c.1112C>A (p.Pro371His) | |
| MT | m.11871C= | CA2573328489 | MT-ND4 | c.1112C= (p.Pro371=) | |
| MT | m.11871C>G | CA414811468 | MT-ND4 | c.1112C>G (p.Pro371Arg) | |
| MT | m.11871C>T | CA414811470 | MT-ND4 | c.1112C>T (p.Pro371Leu) | |
| MT | m.11872C>A | CA913168988 | MT-ND4 | c.1113C>A (p.Pro371=) | |
| MT | m.11872C= | CA2573328490 | MT-ND4 | c.1113C= (p.Pro371=) | |
| MT | m.11872C>G | CA913168986 | MT-ND4 | c.1113C>G (p.Pro371=) | |
| MT | m.11872C>T | CA913168985 | MT-ND4 | c.1113C>T (p.Pro371=) | |
| MT | m.11873A= | CA2573328491 | MT-ND4 | c.1114A= (p.Thr372=) | |
| MT | m.11873A>C | CA414811476 | MT-ND4 | c.1114A>C (p.Thr372Pro) | |
| MT | m.11873A>G | CA414811474 | MT-ND4 | c.1114A>G (p.Thr372Ala) | |
| MT | m.11873A>T | CA414811472 | MT-ND4 | c.1114A>T (p.Thr372Ser) | |
| MT | m.11874C>A | CA414811481 | MT-ND4 | c.1115C>A (p.Thr372Asn) | |
| MT | m.11874C= | CA2573328492 | MT-ND4 | c.1115C= (p.Thr372=) | |
| MT | m.11874C>G | CA414811479 | MT-ND4 | c.1115C>G (p.Thr372Ser) | |
| MT | m.11874C>T | CA414811480 | MT-ND4 | c.1115C>T (p.Thr372Ile) | |
| MT | m.11875T>A | CA913168993 | MT-ND4 | c.1116T>A (p.Thr372=) | |
| MT | m.11875T>C | CA645611411 | MT-ND4 | c.1116T>C (p.Thr372=) | dbSNP COSMIC |
| MT | m.11875T>G | CA913168994 | MT-ND4 | c.1116T>G (p.Thr372=) | |
| MT | m.11875T= | CA2499567311 | MT-ND4 | c.1116T= (p.Thr372=) | |
| MT | m.11876A= | CA2573328496 | MT-ND4 | c.1117A= (p.Ile373=) | |
| MT | m.11876A>C | CA414811485 | MT-ND4 | c.1117A>C (p.Ile373Leu) | |
| MT | m.11876A>G | CA414811486 | MT-ND4 | c.1117A>G (p.Ile373Val) | |
| MT | m.11876A>T | CA414811488 | MT-ND4 | c.1117A>T (p.Ile373Phe) | |
| MT | m.11877T>A | CA414811491 | MT-ND4 | c.1118T>A (p.Ile373Asn) | |
| MT | m.11877T>C | CA414811492 | MT-ND4 | c.1118T>C (p.Ile373Thr) | |
| MT | m.11877T>G | CA414811493 | MT-ND4 | c.1118T>G (p.Ile373Ser) | |
| MT | m.11877T= | CA2573328498 | MT-ND4 | c.1118T= (p.Ile373=) | |
| MT | m.11878T>A | CA913168998 | MT-ND4 | c.1119T>A (p.Ile373=) | |
| MT | m.11878T>C | CA913169000 | MT-ND4 | c.1119T>C (p.Ile373=) | dbSNP |
| MT | m.11878T>G | CA414811496 | MT-ND4 | c.1119T>G (p.Ile373Met) | |
| MT | m.11878T= | CA2499567312 | MT-ND4 | c.1119T= (p.Ile373=) | |
| MT | m.11879A= | CA2573328501 | MT-ND4 | c.1120A= (p.Asn374=) | |
| MT | m.11879A>C | CA414811498 | MT-ND4 | c.1120A>C (p.Asn374His) | |
| MT | m.11879A>G | CA414811500 | MT-ND4 | c.1120A>G (p.Asn374Asp) | |
| MT | m.11879A>T | CA414811502 | MT-ND4 | c.1120A>T (p.Asn374Tyr) | |
| MT | m.11880A= | CA2573328504 | MT-ND4 | c.1121A= (p.Asn374=) | |
| MT | m.11880A>C | CA414811508 | MT-ND4 | c.1121A>C (p.Asn374Thr) | |
| MT | m.11880A>G | CA414811504 | MT-ND4 | c.1121A>G (p.Asn374Ser) | |
| MT | m.11880A>T | CA414811506 | MT-ND4 | c.1121A>T (p.Asn374Ile) | |
| MT | m.11880_11881insACCC | CA2573105226 | MT-ND4 | c.1121_1122insACCC (p.Asn374LysfsTer?) | |
| MT | m.11881C>A | CA414811509 | MT-ND4 | c.1122C>A (p.Asn374Lys) | |
| MT | m.11881C= | CA2499567313 | MT-ND4 | c.1122C= (p.Asn374=) | |
| MT | m.11881C>G | CA414811512 | MT-ND4 | c.1122C>G (p.Asn374Lys) | |
| MT | m.11881C>T | CA913169002 | MT-ND4 | c.1122C>T (p.Asn374=) | dbSNP |
| MT | m.11882C>A | CA414811514 | MT-ND4 | c.1123C>A (p.Leu375Ile) | |
| MT | m.11882C= | CA2573328507 | MT-ND4 | c.1123C= (p.Leu375=) | |
| MT | m.11882C>G | CA414811516 | MT-ND4 | c.1123C>G (p.Leu375Val) | |
| MT | m.11882C>T | CA913169006 | MT-ND4 | c.1123C>T (p.Leu375=) | |
| MT | m.11883T>A | CA414811518 | MT-ND4 | c.1124T>A (p.Leu375Gln) | |
| MT | m.11883T>C | CA414811520 | MT-ND4 | c.1124T>C (p.Leu375Pro) | |
| MT | m.11883T>G | CA414811522 | MT-ND4 | c.1124T>G (p.Leu375Arg) | |
| MT | m.11883T= | CA2573328509 | MT-ND4 | c.1124T= (p.Leu375=) | |
| MT | m.11884A= | CA2499567314 | MT-ND4 | c.1125A= (p.Leu375=) | |
| MT | m.11884A>C | CA913169009 | MT-ND4 | c.1125A>C (p.Leu375=) | |
| MT | m.11884A>G | CA913169008 | MT-ND4 | c.1125A>G (p.Leu375=) | dbSNP |
| MT | m.11884A>T | CA913169007 | MT-ND4 | c.1125A>T (p.Leu375=) | |
| MT | m.11885C>A | CA414811524 | MT-ND4 | c.1126C>A (p.Leu376Met) | |
| MT | m.11885C= | CA2499567315 | MT-ND4 | c.1126C= (p.Leu376=) | |
| MT | m.11885C>G | CA414811525 | MT-ND4 | c.1126C>G (p.Leu376Val) | |
| MT | m.11885C>T | CA913169010 | MT-ND4 | c.1126C>T (p.Leu376=) | dbSNP |
| MT | m.11886T>A | CA414811528 | MT-ND4 | c.1127T>A (p.Leu376Gln) | |
| MT | m.11886T>C | CA414811530 | MT-ND4 | c.1127T>C (p.Leu376Pro) | |
| MT | m.11886T>G | CA414811531 | MT-ND4 | c.1127T>G (p.Leu376Arg) | |
| MT | m.11886T= | CA2573328511 | MT-ND4 | c.1127T= (p.Leu376=) | |
| MT | m.11887G>A | CA913169018 | MT-ND4 | c.1128G>A (p.Leu376=) | dbSNP |
| MT | m.11887G>C | CA913169015 | MT-ND4 | c.1128G>C (p.Leu376=) | |
| MT | m.11887G= | CA2499567316 | MT-ND4 | c.1128G= (p.Leu376=) | |
| MT | m.11887G>T | CA913169017 | MT-ND4 | c.1128G>T (p.Leu376=) | |
| MT | m.11888G>A | CA414811537 | MT-ND4 | c.1129G>A (p.Gly377Arg) | dbSNP |
| MT | m.11888G>C | CA414811536 | MT-ND4 | c.1129G>C (p.Gly377Arg) | |
| MT | m.11888G= | CA2499567317 | MT-ND4 | c.1129G= (p.Gly377=) | |
| MT | m.11888G>T | CA414811534 | MT-ND4 | c.1129G>T (p.Gly377Ter) | |
| MT | m.11889G>A | CA414811540 | MT-ND4 | c.1130G>A (p.Gly377Glu) | |
| MT | m.11889G>C | CA414811543 | MT-ND4 | c.1130G>C (p.Gly377Ala) | |
| MT | m.11889G= | CA2573328514 | MT-ND4 | c.1130G= (p.Gly377=) | |
| MT | m.11889G>T | CA414811541 | MT-ND4 | c.1130G>T (p.Gly377Val) | |
| MT | m.11889_11920del | CA2740098353 | MT-ND4 | c.1130_1161del (p.Gly377ValfsTer?) | |
| MT | m.11890A= | CA2573328515 | MT-ND4 | c.1131A= (p.Gly377=) | |
| MT | m.11890A>C | CA913169024 | MT-ND4 | c.1131A>C (p.Gly377=) | |
| MT | m.11890A>G | CA913169019 | MT-ND4 | c.1131A>G (p.Gly377=) | |
| MT | m.11890A>T | CA913169020 | MT-ND4 | c.1131A>T (p.Gly377=) | |
| MT | m.11891G>A | CA414811546 | MT-ND4 | c.1132G>A (p.Glu378Lys) | |
| MT | m.11891G>C | CA414811547 | MT-ND4 | c.1132G>C (p.Glu378Gln) | |
| MT | m.11891G= | CA2573328516 | MT-ND4 | c.1132G= (p.Glu378=) | |
| MT | m.11891G>T | CA414811548 | MT-ND4 | c.1132G>T (p.Glu378Ter) | |
| MT | m.11892A= | CA2573328517 | MT-ND4 | c.1133A= (p.Glu378=) | |
| MT | m.11892A>C | CA414811551 | MT-ND4 | c.1133A>C (p.Glu378Ala) | |
| MT | m.11892A>G | CA414811553 | MT-ND4 | c.1133A>G (p.Glu378Gly) | |
| MT | m.11892A>T | CA414811555 | MT-ND4 | c.1133A>T (p.Glu378Val) | |
| MT | m.11893A= | CA2499567318 | MT-ND4 | c.1134A= (p.Glu378=) | |
| MT | m.11893A>C | CA414811557 | MT-ND4 | c.1134A>C (p.Glu378Asp) | |
| MT | m.11893A>G | CA337099323 | MT-ND4 | c.1134A>G (p.Glu378=) | dbSNP |
| MT | m.11893A>T | CA414811560 | MT-ND4 | c.1134A>T (p.Glu378Asp) | |
| MT | m.11893_11895delinsACT | CA2499567319 | MT-ND4 | c.1134_1136delinsACT (p.Glu378=) | |
| MT | m.11894C>A | CA414811566 | MT-ND4 | c.1135C>A (p.Leu379Ile) | |
| MT | m.11894C= | CA2573328521 | MT-ND4 | c.1135C= (p.Leu379=) | |
| MT | m.11894C>G | CA414811564 | MT-ND4 | c.1135C>G (p.Leu379Val) | |
| MT | m.11894C>T | CA414811562 | MT-ND4 | c.1135C>T (p.Leu379Phe) | |
| MT | m.11898_11899del | CA920603144 | MT-ND4 | c.1139_1140del (p.Ser380CysfsTer?) | dbSNP |
| MT | m.11895T>A | CA414811569 | MT-ND4 | c.1136T>A (p.Leu379His) | |
| MT | m.11895T>C | CA414811571 | MT-ND4 | c.1136T>C (p.Leu379Pro) | |
| MT | m.11895T>G | CA414811572 | MT-ND4 | c.1136T>G (p.Leu379Arg) | |
| MT | m.11895T= | CA2573328522 | MT-ND4 | c.1136T= (p.Leu379=) | |
| MT | m.11896C>A | CA913169041 | MT-ND4 | c.1137C>A (p.Leu379=) | |
| MT | m.11896C= | CA2499567320 | MT-ND4 | c.1137C= (p.Leu379=) | |
| MT | m.11896C>G | CA16040631 | MT-ND4 | c.1137C>G (p.Leu379=) | ClinVar dbSNP |
| MT | m.11896C>T | CA913169039 | MT-ND4 | c.1137C>T (p.Leu379=) | |
| MT | m.11897T>A | CA414811576 | MT-ND4 | c.1138T>A (p.Ser380Thr) | |
| MT | m.11897T>C | CA414811577 | MT-ND4 | c.1138T>C (p.Ser380Pro) | |
| MT | m.11897T>G | CA414811580 | MT-ND4 | c.1138T>G (p.Ser380Ala) | |
| MT | m.11897T= | CA2573328525 | MT-ND4 | c.1138T= (p.Ser380=) | |
| MT | m.11898C>A | CA414811582 | MT-ND4 | c.1139C>A (p.Ser380Tyr) | |
| MT | m.11898C= | CA2513006423 | MT-ND4 | c.1139C= (p.Ser380=) | |
| MT | m.11898C>G | CA414811583 | MT-ND4 | c.1139C>G (p.Ser380Cys) | |
| MT | m.11898C>T | CA414811586 | MT-ND4 | c.1139C>T (p.Ser380Phe) | |
| MT | m.11899T>A | CA913169047 | MT-ND4 | c.1140T>A (p.Ser380=) | |
| MT | m.11899T>C | CA10581275 | MT-ND4 | c.1140T>C (p.Ser380=) | ClinVar dbSNP |
| MT | m.11899T>G | CA913169045 | MT-ND4 | c.1140T>G (p.Ser380=) | |
| MT | m.11899T= | CA2499567321 | MT-ND4 | c.1140T= (p.Ser380=) | |
| MT | m.11900G>A | CA414811592 | MT-ND4 | c.1141G>A (p.Val381Met) | dbSNP COSMIC |
| MT | m.11900G>C | CA337099330 | MT-ND4 | c.1141G>C (p.Val381Leu) | |
| MT | m.11900G= | CA2499567322 | MT-ND4 | c.1141G= (p.Val381=) | |
| MT | m.11900G>T | CA337099328 | MT-ND4 | c.1141G>T (p.Val381Leu) | |
| MT | m.11901T>A | CA414811598 | MT-ND4 | c.1142T>A (p.Val381Glu) | |
| MT | m.11901T>C | CA414811594 | MT-ND4 | c.1142T>C (p.Val381Ala) | |
| MT | m.11901T>G | CA414811596 | MT-ND4 | c.1142T>G (p.Val381Gly) | |
| MT | m.11901T= | CA2573328530 | MT-ND4 | c.1142T= (p.Val381=) | |
| MT | m.11902G>A | CA645611412 | MT-ND4 | c.1143G>A (p.Val381=) | dbSNP COSMIC |
| MT | m.11902G>C | CA913169067 | MT-ND4 | c.1143G>C (p.Val381=) | dbSNP |
| MT | m.11902G= | CA2499567323 | MT-ND4 | c.1143G= (p.Val381=) | |
| MT | m.11902G>T | CA913169066 | MT-ND4 | c.1143G>T (p.Val381=) | |
| MT | m.11903C>A | CA414811600 | MT-ND4 | c.1144C>A (p.Leu382Ile) | |
| MT | m.11903C= | CA2573328532 | MT-ND4 | c.1144C= (p.Leu382=) | |
| MT | m.11903C>G | CA414811602 | MT-ND4 | c.1144C>G (p.Leu382Val) | |
| MT | m.11903C>T | CA913169069 | MT-ND4 | c.1144C>T (p.Leu382=) | dbSNP |
| MT | m.11904T>A | CA414811604 | MT-ND4 | c.1145T>A (p.Leu382Gln) | |
| MT | m.11904T>C | CA414811605 | MT-ND4 | c.1145T>C (p.Leu382Pro) | |
| MT | m.11904T>G | CA414811608 | MT-ND4 | c.1145T>G (p.Leu382Arg) | |
| MT | m.11904T= | CA2573328534 | MT-ND4 | c.1145T= (p.Leu382=) | |
| MT | m.11905A= | CA2573328536 | MT-ND4 | c.1146A= (p.Leu382=) | |
| MT | m.11905A>C | CA913169071 | MT-ND4 | c.1146A>C (p.Leu382=) | |
| MT | m.11905A>G | CA913169072 | MT-ND4 | c.1146A>G (p.Leu382=) | |
| MT | m.11905A>T | CA913169073 | MT-ND4 | c.1146A>T (p.Leu382=) | |
| MT | m.11906G>A | CA414811610 | MT-ND4 | c.1147G>A (p.Val383Ile) | ClinVar dbSNP |
| MT | m.11906G>C | CA414811612 | MT-ND4 | c.1147G>C (p.Val383Leu) | |
| MT | m.11906G= | CA2499567324 | MT-ND4 | c.1147G= (p.Val383=) | |
| MT | m.11906G>T | CA414811614 | MT-ND4 | c.1147G>T (p.Val383Leu) | |
| MT | m.11907T>A | CA414811616 | MT-ND4 | c.1148T>A (p.Val383Glu) | |
| MT | m.11907T>C | CA414811618 | MT-ND4 | c.1148T>C (p.Val383Ala) | dbSNP |
| MT | m.11907T>G | CA414811620 | MT-ND4 | c.1148T>G (p.Val383Gly) | |
| MT | m.11907T= | CA2499567325 | MT-ND4 | c.1148T= (p.Val383=) | |
| MT | m.11908A= | CA2499567326 | MT-ND4 | c.1149A= (p.Val383=) | |
| MT | m.11908A>C | CA913169077 | MT-ND4 | c.1149A>C (p.Val383=) | |
| MT | m.11908A>G | CA337099332 | MT-ND4 | c.1149A>G (p.Val383=) | dbSNP |
| MT | m.11908A>T | CA913169080 | MT-ND4 | c.1149A>T (p.Val383=) | dbSNP |
| MT | m.11909A= | CA2499567327 | MT-ND4 | c.1150A= (p.Thr384=) | |
| MT | m.11909A>C | CA414811624 | MT-ND4 | c.1150A>C (p.Thr384Pro) | |
| MT | m.11909A>G | CA414811626 | MT-ND4 | c.1150A>G (p.Thr384Ala) | dbSNP COSMIC COSMIC |
| MT | m.11909A>T | CA414811628 | MT-ND4 | c.1150A>T (p.Thr384Ser) | |
| MT | m.11910C>A | CA414811630 | MT-ND4 | c.1151C>A (p.Thr384Asn) | |
| MT | m.11910C= | CA2573328546 | MT-ND4 | c.1151C= (p.Thr384=) | |
| MT | m.11910C>G | CA414811632 | MT-ND4 | c.1151C>G (p.Thr384Ser) | |
| MT | m.11910C>T | CA414811634 | MT-ND4 | c.1151C>T (p.Thr384Ile) | |
| MT | m.11911C>A | CA913169085 | MT-ND4 | c.1152C>A (p.Thr384=) | |
| MT | m.11911C= | CA2499567328 | MT-ND4 | c.1152C= (p.Thr384=) | |
| MT | m.11911C>G | CA913169084 | MT-ND4 | c.1152C>G (p.Thr384=) | |
| MT | m.11911C>T | CA913169086 | MT-ND4 | c.1152C>T (p.Thr384=) | dbSNP |
| MT | m.11912A= | CA2573328547 | MT-ND4 | c.1153A= (p.Thr385=) | |
| MT | m.11912A>C | CA414811636 | MT-ND4 | c.1153A>C (p.Thr385Pro) | |
| MT | m.11912A>G | CA414811638 | MT-ND4 | c.1153A>G (p.Thr385Ala) | |
| MT | m.11912A>T | CA414811640 | MT-ND4 | c.1153A>T (p.Thr385Ser) | |
| MT | m.11913C>A | CA414811642 | MT-ND4 | c.1154C>A (p.Thr385Lys) | |
| MT | m.11913C= | CA2499567329 | MT-ND4 | c.1154C= (p.Thr385=) | |
| MT | m.11913C>G | CA414811644 | MT-ND4 | c.1154C>G (p.Thr385Arg) | |
| MT | m.11913C>T | CA414811646 | MT-ND4 | c.1154C>T (p.Thr385Met) | ClinVar dbSNP |
| MT | m.11914G>A | CA337099334 | MT-ND4 | c.1155G>A (p.Thr385=) | dbSNP COSMIC |
| MT | m.11914G>C | CA337099336 | MT-ND4 | c.1155G>C (p.Thr385=) | dbSNP |
| MT | m.11914G= | CA2499567330 | MT-ND4 | c.1155G= (p.Thr385=) | |
| MT | m.11914G>T | CA337099338 | MT-ND4 | c.1155G>T (p.Thr385=) | |
| MT | m.11915T>A | CA414811652 | MT-ND4 | c.1156T>A (p.Phe386Ile) | |
| MT | m.11915T>C | CA414811655 | MT-ND4 | c.1156T>C (p.Phe386Leu) | |
| MT | m.11915T>G | CA414811654 | MT-ND4 | c.1156T>G (p.Phe386Val) | |
| MT | m.11915T= | CA2573328552 | MT-ND4 | c.1156T= (p.Phe386=) | |
| MT | m.11916T>A | CA414811658 | MT-ND4 | c.1157T>A (p.Phe386Tyr) | |
| MT | m.11916T>C | CA414811660 | MT-ND4 | c.1157T>C (p.Phe386Ser) | dbSNP |
| MT | m.11916T>G | CA414811661 | MT-ND4 | c.1157T>G (p.Phe386Cys) | |
| MT | m.11916T= | CA2573328556 | MT-ND4 | c.1157T= (p.Phe386=) | |
| MT | m.11917C>A | CA414811664 | MT-ND4 | c.1158C>A (p.Phe386Leu) | |
| MT | m.11917C= | CA2573328558 | MT-ND4 | c.1158C= (p.Phe386=) | |
| MT | m.11917C>G | CA414811665 | MT-ND4 | c.1158C>G (p.Phe386Leu) | |
| MT | m.11917C>T | CA913169091 | MT-ND4 | c.1158C>T (p.Phe386=) | |
| MT | m.11918T>A | CA414811668 | MT-ND4 | c.1159T>A (p.Ser387Thr) | |
| MT | m.11918T>C | CA414811670 | MT-ND4 | c.1159T>C (p.Ser387Pro) | dbSNP |
| MT | m.11918T>G | CA414811671 | MT-ND4 | c.1159T>G (p.Ser387Ala) | |
| MT | m.11918T= | CA2499567331 | MT-ND4 | c.1159T= (p.Ser387=) | |
| MT | m.11919C>A | CA414811674 | MT-ND4 | c.1160C>A (p.Ser387Tyr) | |
| MT | m.11919C= | CA2573328562 | MT-ND4 | c.1160C= (p.Ser387=) | |
| MT | m.11919C>G | CA414811676 | MT-ND4 | c.1160C>G (p.Ser387Cys) | |
| MT | m.11919C>T | CA414811678 | MT-ND4 | c.1160C>T (p.Ser387Phe) | |
| MT | m.11920C>A | CA913169094 | MT-ND4 | c.1161C>A (p.Ser387=) | |
| MT | m.11920C= | CA2499567332 | MT-ND4 | c.1161C= (p.Ser387=) | |
| MT | m.11920C>G | CA913169092 | MT-ND4 | c.1161C>G (p.Ser387=) | |
| MT | m.11920C>T | CA913169097 | MT-ND4 | c.1161C>T (p.Ser387=) | dbSNP |
| MT | m.11921T>A | CA414811686 | MT-ND4 | c.1162T>A (p.Ter388Arg) | |
| MT | m.11921T>C | CA414811684 | MT-ND4 | c.1162T>C (p.Ter388Arg) | |
| MT | m.11921T>G | CA414811680 | MT-ND4 | c.1162T>G (p.Ter388Gly) | |
| MT | m.11921T= | CA414811683 | MT-ND4 | c.1162T= (p.Ter388=) | |
| MT | m.11922G>A | CA414811688 | MT-ND4 | c.1163G>A (p.Ter388=) | COSMIC |
| MT | m.11922G>C | CA414811690 | MT-ND4 | c.1163G>C (p.Ter388Ser) | |
| MT | m.11922G= | CA414811692 | MT-ND4 | c.1163G= (p.Ter388=) | |
| MT | m.11922G>T | CA414811694 | MT-ND4 | c.1163G>T (p.Ter388Leu) | |
| MT | m.11923A= | CA414811696 | MT-ND4 | c.1164A= (p.Ter388=) | |
| MT | m.11923A>C | CA337099340 | MT-ND4 | c.1164A>C (p.Ter388Cys) | |
| MT | m.11923A>G | CA337099343 | MT-ND4 | c.1164A>G (p.Ter388Trp) | dbSNP |
| MT | m.11923A>T | CA337099344 | MT-ND4 | c.1164A>T (p.Ter388Cys) | |
| MT | m.11924T>A | CA414811702 | MT-ND4 | c.1165T>A (p.Ser389Thr) | |
| MT | m.11924T>C | CA414811703 | MT-ND4 | c.1165T>C (p.Ser389Pro) | |
| MT | m.11924T>G | CA414811705 | MT-ND4 | c.1165T>G (p.Ser389Ala) | |
| MT | m.11924T= | CA2573328565 | MT-ND4 | c.1165T= (p.Ser389=) | |
| MT | m.11925C>A | CA414811708 | MT-ND4 | c.1166C>A (p.Ser389Ter) | |
| MT | m.11925C= | CA2573328566 | MT-ND4 | c.1166C= (p.Ser389=) | |
| MT | m.11925C>G | CA414811711 | MT-ND4 | c.1166C>G (p.Ser389Ter) | |
| MT | m.11925C>T | CA414811709 | MT-ND4 | c.1166C>T (p.Ser389Leu) | |
| MT | m.11926A= | CA2573328567 | MT-ND4 | c.1167A= (p.Ser389=) | |
| MT | m.11926A>C | CA913169107 | MT-ND4 | c.1167A>C (p.Ser389=) | |
| MT | m.11926A>G | CA913169108 | MT-ND4 | c.1167A>G (p.Ser389=) | |
| MT | m.11926A>T | CA913169109 | MT-ND4 | c.1167A>T (p.Ser389=) | dbSNP |
| MT | m.11927A= | CA2573328568 | MT-ND4 | c.1168A= (p.Asn390=) | |
| MT | m.11927A>C | CA414811713 | MT-ND4 | c.1168A>C (p.Asn390His) | |
| MT | m.11927A>G | CA414811715 | MT-ND4 | c.1168A>G (p.Asn390Asp) | |
| MT | m.11927A>T | CA414811717 | MT-ND4 | c.1168A>T (p.Asn390Tyr) | |
| MT | m.11928A= | CA2499567333 | MT-ND4 | c.1169A= (p.Asn390=) | |
| MT | m.11928A>C | CA414811719 | MT-ND4 | c.1169A>C (p.Asn390Thr) | |
| MT | m.11928A>G | CA414811721 | MT-ND4 | c.1169A>G (p.Asn390Ser) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.11928A>T | CA414811723 | MT-ND4 | c.1169A>T (p.Asn390Ile) | |
| MT | m.11929T>A | CA414811725 | MT-ND4 | c.1170T>A (p.Asn390Lys) | |
| MT | m.11929T>C | CA913169118 | MT-ND4 | c.1170T>C (p.Asn390=) | dbSNP |
| MT | m.11929T>G | CA337099346 | MT-ND4 | c.1170T>G (p.Asn390Lys) | dbSNP |
| MT | m.11929T= | CA2499567334 | MT-ND4 | c.1170T= (p.Asn390=) | |
| MT | m.11930A= | CA2499567335 | MT-ND4 | c.1171A= (p.Ile391=) | |
| MT | m.11930A>C | CA414811728 | MT-ND4 | c.1171A>C (p.Ile391Leu) | |
| MT | m.11930A>G | CA414811731 | MT-ND4 | c.1171A>G (p.Ile391Val) | ClinVar dbSNP |
| MT | m.11930A>T | CA414811732 | MT-ND4 | c.1171A>T (p.Ile391Phe) | |
| MT | m.11931T>A | CA414811738 | MT-ND4 | c.1172T>A (p.Ile391Asn) | |
| MT | m.11931T>C | CA414811734 | MT-ND4 | c.1172T>C (p.Ile391Thr) | ClinVar dbSNP |
| MT | m.11931T>G | CA414811736 | MT-ND4 | c.1172T>G (p.Ile391Ser) | |
| MT | m.11931T= | CA2499567336 | MT-ND4 | c.1172T= (p.Ile391=) | |
| MT | m.11932C>A | CA913169127 | MT-ND4 | c.1173C>A (p.Ile391=) | |
| MT | m.11932C= | CA2499567337 | MT-ND4 | c.1173C= (p.Ile391=) | |
| MT | m.11932C>G | CA414811741 | MT-ND4 | c.1173C>G (p.Ile391Met) | |
| MT | m.11932C>T | CA913169129 | MT-ND4 | c.1173C>T (p.Ile391=) | dbSNP |
| MT | m.11933A= | CA2573328578 | MT-ND4 | c.1174A= (p.Thr392=) | |
| MT | m.11933A>C | CA414811743 | MT-ND4 | c.1174A>C (p.Thr392Pro) | |
| MT | m.11933A>G | CA414811745 | MT-ND4 | c.1174A>G (p.Thr392Ala) | |
| MT | m.11933A>T | CA414811747 | MT-ND4 | c.1174A>T (p.Thr392Ser) | |
| MT | m.11934C>A | CA414811750 | MT-ND4 | c.1175C>A (p.Thr392Asn) | |
| MT | m.11934C= | CA2513054600 | MT-ND4 | c.1175C= (p.Thr392=) | |
| MT | m.11934C>G | CA414811751 | MT-ND4 | c.1175C>G (p.Thr392Ser) | |
| MT | m.11934C>T | CA414811752 | MT-ND4 | c.1175C>T (p.Thr392Ile) | |
| MT | m.11935T>A | CA913169134 | MT-ND4 | c.1176T>A (p.Thr392=) | |
| MT | m.11935T>C | CA913169136 | MT-ND4 | c.1176T>C (p.Thr392=) | dbSNP |
| MT | m.11935T>G | CA913169135 | MT-ND4 | c.1176T>G (p.Thr392=) | |
| MT | m.11935T= | CA2499567338 | MT-ND4 | c.1176T= (p.Thr392=) | |
| MT | m.11936C>A | CA414811755 | MT-ND4 | c.1177C>A (p.Leu393Ile) | |
| MT | m.11936C= | CA2573328579 | MT-ND4 | c.1177C= (p.Leu393=) | |
| MT | m.11936C>G | CA414811757 | MT-ND4 | c.1177C>G (p.Leu393Val) | |
| MT | m.11936C>T | CA414811758 | MT-ND4 | c.1177C>T (p.Leu393Phe) | |
| MT | m.11937T>A | CA414811764 | MT-ND4 | c.1178T>A (p.Leu393His) | |
| MT | m.11937T>C | CA414811763 | MT-ND4 | c.1178T>C (p.Leu393Pro) | |
| MT | m.11937T>G | CA414811761 | MT-ND4 | c.1178T>G (p.Leu393Arg) | |
| MT | m.11937T= | CA2573328580 | MT-ND4 | c.1178T= (p.Leu393=) | |
| MT | m.11938C>A | CA913169142 | MT-ND4 | c.1179C>A (p.Leu393=) | |
| MT | m.11938C= | CA2499567339 | MT-ND4 | c.1179C= (p.Leu393=) | |
| MT | m.11938C>G | CA913169141 | MT-ND4 | c.1179C>G (p.Leu393=) | |
| MT | m.11938C>T | CA913169140 | MT-ND4 | c.1179C>T (p.Leu393=) | dbSNP |
| MT | m.11939C>A | CA414811768 | MT-ND4 | c.1180C>A (p.Leu394Ile) | |
| MT | m.11939C= | CA2573328581 | MT-ND4 | c.1180C= (p.Leu394=) | |
| MT | m.11939C>G | CA414811767 | MT-ND4 | c.1180C>G (p.Leu394Val) | |
| MT | m.11939C>T | CA913169145 | MT-ND4 | c.1180C>T (p.Leu394=) | |
| MT | m.11940T>A | CA414811774 | MT-ND4 | c.1181T>A (p.Leu394Gln) | |
| MT | m.11940T>C | CA414811771 | MT-ND4 | c.1181T>C (p.Leu394Pro) | |
| MT | m.11940T>G | CA414811773 | MT-ND4 | c.1181T>G (p.Leu394Arg) | |
| MT | m.11940T= | CA2573328583 | MT-ND4 | c.1181T= (p.Leu394=) | |
| MT | m.11941A= | CA2499567340 | MT-ND4 | c.1182A= (p.Leu394=) | |
| MT | m.11941A>C | CA913169184 | MT-ND4 | c.1182A>C (p.Leu394=) | |
| MT | m.11941A>G | CA913169183 | MT-ND4 | c.1182A>G (p.Leu394=) | dbSNP |
| MT | m.11941A>T | CA913169182 | MT-ND4 | c.1182A>T (p.Leu394=) | |
| MT | m.11942C>A | CA414811777 | MT-ND4 | c.1183C>A (p.Leu395Ile) | |
| MT | m.11942C= | CA2573328586 | MT-ND4 | c.1183C= (p.Leu395=) | |
| MT | m.11942C>G | CA414811779 | MT-ND4 | c.1183C>G (p.Leu395Val) | |
| MT | m.11942C>T | CA414811781 | MT-ND4 | c.1183C>T (p.Leu395Phe) | |
| MT | m.11943T>A | CA414811783 | MT-ND4 | c.1184T>A (p.Leu395His) | |
| MT | m.11943T>C | CA414811785 | MT-ND4 | c.1184T>C (p.Leu395Pro) | |
| MT | m.11943T>G | CA414811786 | MT-ND4 | c.1184T>G (p.Leu395Arg) | |
| MT | m.11943T= | CA2573328588 | MT-ND4 | c.1184T= (p.Leu395=) | |
| MT | m.11944T>A | CA337099352 | MT-ND4 | c.1185T>A (p.Leu395=) | dbSNP |
| MT | m.11944T>C | CA337099350 | MT-ND4 | c.1185T>C (p.Leu395=) | dbSNP |
| MT | m.11944T>G | CA337099348 | MT-ND4 | c.1185T>G (p.Leu395=) | dbSNP |
| MT | m.11944T= | CA2499567341 | MT-ND4 | c.1185T= (p.Leu395=) | |
| MT | m.11945A= | CA2573328591 | MT-ND4 | c.1186A= (p.Thr396=) | |
| MT | m.11945A>C | CA414811795 | MT-ND4 | c.1186A>C (p.Thr396Pro) | |
| MT | m.11945A>G | CA414811792 | MT-ND4 | c.1186A>G (p.Thr396Ala) | |
| MT | m.11945A>T | CA414811793 | MT-ND4 | c.1186A>T (p.Thr396Ser) | |
| MT | m.11946C>A | CA414811798 | MT-ND4 | c.1187C>A (p.Thr396Lys) | |
| MT | m.11946C= | CA2499567342 | MT-ND4 | c.1187C= (p.Thr396=) | |
| MT | m.11946C>G | CA414811799 | MT-ND4 | c.1187C>G (p.Thr396Arg) | |
| MT | m.11946C>T | CA414811801 | MT-ND4 | c.1187C>T (p.Thr396Ile) | ClinVar dbSNP |
| 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=) |