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.11719_11767del | CA2740098351 | MT-ND4 | c.960_1008del (p.Ser323ValfsTer4) | |
| MT | m.11749A= | CA2499567266 | MT-ND4 | c.990A= (p.Ala330=) | |
| MT | m.11749A>C | CA913168483 | MT-ND4 | c.990A>C (p.Ala330=) | |
| MT | m.11749A>G | CA913168484 | MT-ND4 | c.990A>G (p.Ala330=) | dbSNP |
| MT | m.11749A>T | CA913168485 | MT-ND4 | c.990A>T (p.Ala330=) | |
| MT | m.11750A= | CA2573328309 | MT-ND4 | c.991A= (p.Asn331=) | |
| MT | m.11750A>C | CA414810905 | MT-ND4 | c.991A>C (p.Asn331His) | |
| MT | m.11750A>G | CA414810907 | MT-ND4 | c.991A>G (p.Asn331Asp) | |
| MT | m.11750A>T | CA414810908 | MT-ND4 | c.991A>T (p.Asn331Tyr) | |
| MT | m.11751A= | CA2573328312 | MT-ND4 | c.992A= (p.Asn331=) | |
| MT | m.11751A>C | CA414810911 | MT-ND4 | c.992A>C (p.Asn331Thr) | |
| MT | m.11751A>G | CA414810913 | MT-ND4 | c.992A>G (p.Asn331Ser) | |
| MT | m.11751A>T | CA414810914 | MT-ND4 | c.992A>T (p.Asn331Ile) | |
| MT | m.11752C>A | CA414810917 | MT-ND4 | c.993C>A (p.Asn331Lys) | |
| MT | m.11752C= | CA2573328314 | MT-ND4 | c.993C= (p.Asn331=) | |
| MT | m.11752C>G | CA414810919 | MT-ND4 | c.993C>G (p.Asn331Lys) | |
| MT | m.11752C>T | CA913168490 | MT-ND4 | c.993C>T (p.Asn331=) | |
| MT | m.11753T>A | CA414810921 | MT-ND4 | c.994T>A (p.Ser332Thr) | |
| MT | m.11753T>C | CA414810923 | MT-ND4 | c.994T>C (p.Ser332Pro) | |
| MT | m.11753T>G | CA414810925 | MT-ND4 | c.994T>G (p.Ser332Ala) | |
| MT | m.11753T= | CA2573328317 | MT-ND4 | c.994T= (p.Ser332=) | |
| MT | m.11754C>A | CA414810930 | MT-ND4 | c.995C>A (p.Ser332Ter) | |
| MT | m.11754C= | CA2573328320 | MT-ND4 | c.995C= (p.Ser332=) | |
| MT | m.11754C>G | CA414810929 | MT-ND4 | c.995C>G (p.Ser332Ter) | |
| MT | m.11754C>T | CA414810928 | MT-ND4 | c.995C>T (p.Ser332Leu) | |
| MT | m.11755A= | CA2499567267 | MT-ND4 | c.996A= (p.Ser332=) | |
| MT | m.11755A>C | CA913168498 | MT-ND4 | c.996A>C (p.Ser332=) | |
| MT | m.11755A>G | CA913168499 | MT-ND4 | c.996A>G (p.Ser332=) | dbSNP |
| MT | m.11755A>T | CA913168500 | MT-ND4 | c.996A>T (p.Ser332=) | |
| MT | m.11756A= | CA2573328322 | MT-ND4 | c.997A= (p.Asn333=) | |
| MT | m.11756A>C | CA414810933 | MT-ND4 | c.997A>C (p.Asn333His) | |
| MT | m.11756A>G | CA414810935 | MT-ND4 | c.997A>G (p.Asn333Asp) | |
| MT | m.11756A>T | CA414810936 | MT-ND4 | c.997A>T (p.Asn333Tyr) | |
| MT | m.11757A= | CA2573328324 | MT-ND4 | c.998A= (p.Asn333=) | |
| MT | m.11757A>C | CA414810939 | MT-ND4 | c.998A>C (p.Asn333Thr) | |
| MT | m.11757A>G | CA414810940 | MT-ND4 | c.998A>G (p.Asn333Ser) | |
| MT | m.11757A>T | CA414810942 | MT-ND4 | c.998A>T (p.Asn333Ile) | |
| MT | m.11758C>A | CA414810944 | MT-ND4 | c.999C>A (p.Asn333Lys) | |
| MT | m.11758C= | CA2499567268 | MT-ND4 | c.999C= (p.Asn333=) | |
| MT | m.11758C>G | CA337099287 | MT-ND4 | c.999C>G (p.Asn333Lys) | |
| MT | m.11758C>T | CA337099290 | MT-ND4 | c.999C>T (p.Asn333=) | dbSNP |
| MT | m.11759T>A | CA414810948 | MT-ND4 | c.1000T>A (p.Tyr334Asn) | |
| MT | m.11759T>C | CA414810950 | MT-ND4 | c.1000T>C (p.Tyr334His) | |
| MT | m.11759T>G | CA414810951 | MT-ND4 | c.1000T>G (p.Tyr334Asp) | |
| MT | m.11759T= | CA2573328327 | MT-ND4 | c.1000T= (p.Tyr334=) | |
| MT | m.11760A= | CA2573328330 | MT-ND4 | c.1001A= (p.Tyr334=) | |
| MT | m.11760A>C | CA414810956 | MT-ND4 | c.1001A>C (p.Tyr334Ser) | |
| MT | m.11760A>G | CA414810957 | MT-ND4 | c.1001A>G (p.Tyr334Cys) | |
| MT | m.11760A>T | CA414810954 | MT-ND4 | c.1001A>T (p.Tyr334Phe) | |
| MT | m.11761C>A | CA414810961 | MT-ND4 | c.1002C>A (p.Tyr334Ter) | |
| MT | m.11761C= | CA2499567269 | MT-ND4 | c.1002C= (p.Tyr334=) | |
| MT | m.11761C>G | CA414810962 | MT-ND4 | c.1002C>G (p.Tyr334Ter) | |
| MT | m.11761C>T | CA913168522 | MT-ND4 | c.1002C>T (p.Tyr334=) | dbSNP |
| MT | m.11762G>A | CA414810965 | MT-ND4 | c.1003G>A (p.Glu335Lys) | |
| MT | m.11762G>C | CA414810967 | MT-ND4 | c.1003G>C (p.Glu335Gln) | |
| MT | m.11762G= | CA2573328335 | MT-ND4 | c.1003G= (p.Glu335=) | |
| MT | m.11762G>T | CA414810968 | MT-ND4 | c.1003G>T (p.Glu335Ter) | |
| MT | m.11763A= | CA2573328336 | MT-ND4 | c.1004A= (p.Glu335=) | |
| MT | m.11763A>C | CA414810971 | MT-ND4 | c.1004A>C (p.Glu335Ala) | |
| MT | m.11763A>G | CA414810972 | MT-ND4 | c.1004A>G (p.Glu335Gly) | |
| MT | m.11763A>T | CA414810974 | MT-ND4 | c.1004A>T (p.Glu335Val) | |
| MT | m.11764A= | CA2499567270 | MT-ND4 | c.1005A= (p.Glu335=) | |
| MT | m.11764A>C | CA414810976 | MT-ND4 | c.1005A>C (p.Glu335Asp) | |
| MT | m.11764A>G | CA913168531 | MT-ND4 | c.1005A>G (p.Glu335=) | dbSNP |
| MT | m.11764A>T | CA414810978 | MT-ND4 | c.1005A>T (p.Glu335Asp) | |
| MT | m.11765C>A | CA414810980 | MT-ND4 | c.1006C>A (p.Arg336Ser) | |
| MT | m.11765C= | CA2573328339 | MT-ND4 | c.1006C= (p.Arg336=) | |
| MT | m.11765C>G | CA414810982 | MT-ND4 | c.1006C>G (p.Arg336Gly) | |
| MT | m.11765C>T | CA414810983 | MT-ND4 | c.1006C>T (p.Arg336Cys) | |
| MT | m.11766G>A | CA414810989 | MT-ND4 | c.1007G>A (p.Arg336His) | |
| MT | m.11766G>C | CA414810988 | MT-ND4 | c.1007G>C (p.Arg336Pro) | |
| MT | m.11766G= | CA2573328341 | MT-ND4 | c.1007G= (p.Arg336=) | |
| MT | m.11766G>T | CA414810986 | MT-ND4 | c.1007G>T (p.Arg336Leu) | |
| MT | m.11767C>A | CA913168546 | MT-ND4 | c.1008C>A (p.Arg336=) | |
| MT | m.11767C= | CA2573328343 | MT-ND4 | c.1008C= (p.Arg336=) | |
| MT | m.11767C>G | CA913168543 | MT-ND4 | c.1008C>G (p.Arg336=) | |
| MT | m.11767C>T | CA913168545 | MT-ND4 | c.1008C>T (p.Arg336=) | dbSNP |
| MT | m.11768A= | CA2573328344 | MT-ND4 | c.1009A= (p.Thr337=) | |
| MT | m.11768A>C | CA414810992 | MT-ND4 | c.1009A>C (p.Thr337Pro) | |
| MT | m.11768A>G | CA414810994 | MT-ND4 | c.1009A>G (p.Thr337Ala) | |
| MT | m.11768A>T | CA414810995 | MT-ND4 | c.1009A>T (p.Thr337Ser) | |
| MT | m.11769C>A | CA414810998 | MT-ND4 | c.1010C>A (p.Thr337Asn) | |
| MT | m.11769C= | CA2513065275 | MT-ND4 | c.1010C= (p.Thr337=) | |
| MT | m.11769C>G | CA414810999 | MT-ND4 | c.1010C>G (p.Thr337Ser) | |
| MT | m.11769C>T | CA414811001 | MT-ND4 | c.1010C>T (p.Thr337Ile) | |
| MT | m.11770T>A | CA913168555 | MT-ND4 | c.1011T>A (p.Thr337=) | |
| MT | m.11770T>C | CA913168551 | MT-ND4 | c.1011T>C (p.Thr337=) | dbSNP |
| MT | m.11770T>G | CA913168553 | MT-ND4 | c.1011T>G (p.Thr337=) | |
| MT | m.11770T= | CA2499567271 | MT-ND4 | c.1011T= (p.Thr337=) | |
| MT | m.11771C>A | CA414811004 | MT-ND4 | c.1012C>A (p.His338Asn) | dbSNP |
| MT | m.11771C= | CA2499567272 | MT-ND4 | c.1012C= (p.His338=) | |
| MT | m.11771C>G | CA414811005 | MT-ND4 | c.1012C>G (p.His338Asp) | |
| MT | m.11771C>T | CA414811007 | MT-ND4 | c.1012C>T (p.His338Tyr) | |
| MT | m.11772A= | CA2573328350 | MT-ND4 | c.1013A= (p.His338=) | |
| MT | m.11772A>C | CA414811010 | MT-ND4 | c.1013A>C (p.His338Pro) | |
| MT | m.11772A>G | CA414811011 | MT-ND4 | c.1013A>G (p.His338Arg) | |
| MT | m.11772A>T | CA414811012 | MT-ND4 | c.1013A>T (p.His338Leu) | |
| MT | m.11773C>A | CA414811017 | MT-ND4 | c.1014C>A (p.His338Gln) | |
| MT | m.11773C= | CA2573328351 | MT-ND4 | c.1014C= (p.His338=) | |
| MT | m.11773C>G | CA414811015 | MT-ND4 | c.1014C>G (p.His338Gln) | |
| MT | m.11773C>T | CA913168563 | MT-ND4 | c.1014C>T (p.His338=) | dbSNP |
| MT | m.11774A= | CA2573328352 | MT-ND4 | c.1015A= (p.Ser339=) | |
| MT | m.11774A>C | CA414811019 | MT-ND4 | c.1015A>C (p.Ser339Arg) | |
| MT | m.11774A>G | CA414811021 | MT-ND4 | c.1015A>G (p.Ser339Gly) | |
| MT | m.11774A>T | CA414811023 | MT-ND4 | c.1015A>T (p.Ser339Cys) | |
| MT | m.11775G>A | CA414811025 | MT-ND4 | c.1016G>A (p.Ser339Asn) | COSMIC |
| MT | m.11775G>C | CA414811027 | MT-ND4 | c.1016G>C (p.Ser339Thr) | |
| MT | m.11775G= | CA2573328355 | MT-ND4 | c.1016G= (p.Ser339=) | |
| MT | m.11775G>T | CA414811029 | MT-ND4 | c.1016G>T (p.Ser339Ile) | |
| MT | m.11776T>A | CA414811032 | MT-ND4 | c.1017T>A (p.Ser339Arg) | |
| MT | m.11776T>C | CA913168575 | MT-ND4 | c.1017T>C (p.Ser339=) | dbSNP |
| MT | m.11776T>G | CA337099292 | MT-ND4 | c.1017T>G (p.Ser339Arg) | dbSNP |
| MT | m.11776T= | CA2499567273 | MT-ND4 | c.1017T= (p.Ser339=) | |
| MT | m.11777C>A | CA120636 | MT-ND4 | c.1018C>A (p.Arg340Ser) | ClinVar dbSNP |
| MT | m.11777C= | CA2499567274 | MT-ND4 | c.1018C= (p.Arg340=) | |
| MT | m.11777C>G | CA337099295 | MT-ND4 | c.1018C>G (p.Arg340Gly) | dbSNP |
| MT | m.11777C>T | CA414811036 | MT-ND4 | c.1018C>T (p.Arg340Cys) | |
| MT | m.11778G>A | CA340939 | MT-ND4 | c.1019G>A (p.Arg340His) | ClinVar dbSNP |
| MT | m.11778G>C | CA414811039 | MT-ND4 | c.1019G>C (p.Arg340Pro) | |
| MT | m.11778G= | CA2499567275 | MT-ND4 | c.1019G= (p.Arg340=) | |
| MT | m.11778G>T | CA414811041 | MT-ND4 | c.1019G>T (p.Arg340Leu) | |
| MT | m.11779C>A | CA913168602 | MT-ND4 | c.1020C>A (p.Arg340=) | |
| MT | m.11779C= | CA2573328365 | MT-ND4 | c.1020C= (p.Arg340=) | |
| MT | m.11779C>G | CA913168600 | MT-ND4 | c.1020C>G (p.Arg340=) | |
| MT | m.11779C>T | CA913168603 | MT-ND4 | c.1020C>T (p.Arg340=) | |
| MT | m.11780A= | CA2573328366 | MT-ND4 | c.1021A= (p.Ile341=) | |
| MT | m.11780A>C | CA414811044 | MT-ND4 | c.1021A>C (p.Ile341Leu) | |
| MT | m.11780A>G | CA414811047 | MT-ND4 | c.1021A>G (p.Ile341Val) | |
| MT | m.11780A>T | CA414811046 | MT-ND4 | c.1021A>T (p.Ile341Phe) | |
| MT | m.11781T>A | CA414811050 | MT-ND4 | c.1022T>A (p.Ile341Asn) | |
| MT | m.11781T>C | CA414811052 | MT-ND4 | c.1022T>C (p.Ile341Thr) | ClinVar dbSNP |
| MT | m.11781T>G | CA414811053 | MT-ND4 | c.1022T>G (p.Ile341Ser) | |
| MT | m.11781T= | CA2499567276 | MT-ND4 | c.1022T= (p.Ile341=) | |
| MT | m.11782C>A | CA913168610 | MT-ND4 | c.1023C>A (p.Ile341=) | |
| MT | m.11782C= | CA2499567277 | MT-ND4 | c.1023C= (p.Ile341=) | |
| MT | m.11782C>G | CA414811055 | MT-ND4 | c.1023C>G (p.Ile341Met) | |
| MT | m.11782C>T | CA913168608 | MT-ND4 | c.1023C>T (p.Ile341=) | dbSNP |
| MT | m.11783A= | CA2573328368 | MT-ND4 | c.1024A= (p.Ile342=) | |
| MT | m.11783A>C | CA414811058 | MT-ND4 | c.1024A>C (p.Ile342Leu) | |
| MT | m.11783A>G | CA414811060 | MT-ND4 | c.1024A>G (p.Ile342Val) | |
| MT | m.11783A>T | CA414811061 | MT-ND4 | c.1024A>T (p.Ile342Leu) | |
| MT | m.11784T>A | CA414811064 | MT-ND4 | c.1025T>A (p.Ile342Lys) | |
| MT | m.11784T>C | CA414811066 | MT-ND4 | c.1025T>C (p.Ile342Thr) | |
| MT | m.11784T>G | CA414811068 | MT-ND4 | c.1025T>G (p.Ile342Arg) | |
| MT | m.11784T= | CA2573328370 | MT-ND4 | c.1025T= (p.Ile342=) | |
| MT | m.11785A= | CA2573328372 | MT-ND4 | c.1026A= (p.Ile342=) | |
| MT | m.11785A>C | CA913168624 | MT-ND4 | c.1026A>C (p.Ile342=) | |
| MT | m.11785A>G | CA414811070 | MT-ND4 | c.1026A>G (p.Ile342Met) | |
| MT | m.11785A>T | CA913168623 | MT-ND4 | c.1026A>T (p.Ile342=) | |
| MT | m.11786A= | CA2573328375 | MT-ND4 | c.1027A= (p.Ile343=) | |
| MT | m.11786A>C | CA414811072 | MT-ND4 | c.1027A>C (p.Ile343Leu) | |
| MT | m.11786A>G | CA414811076 | MT-ND4 | c.1027A>G (p.Ile343Val) | |
| MT | m.11786A>T | CA414811074 | MT-ND4 | c.1027A>T (p.Ile343Phe) | |
| MT | m.11787T>A | CA414811078 | MT-ND4 | c.1028T>A (p.Ile343Asn) | |
| MT | m.11787T>C | CA414811082 | MT-ND4 | c.1028T>C (p.Ile343Thr) | dbSNP |
| MT | m.11787T>G | CA414811080 | MT-ND4 | c.1028T>G (p.Ile343Ser) | |
| MT | m.11787T= | CA2513284667 | MT-ND4 | c.1028T= (p.Ile343=) | |
| MT | m.11788C>A | CA913168634 | MT-ND4 | c.1029C>A (p.Ile343=) | |
| MT | m.11788C= | CA2499567278 | MT-ND4 | c.1029C= (p.Ile343=) | |
| MT | m.11788C>G | CA414811084 | MT-ND4 | c.1029C>G (p.Ile343Met) | |
| MT | m.11788C>T | CA913168641 | MT-ND4 | c.1029C>T (p.Ile343=) | dbSNP |
| MT | m.11789C>A | CA414811086 | MT-ND4 | c.1030C>A (p.Leu344Ile) | |
| MT | m.11789C= | CA2573328378 | MT-ND4 | c.1030C= (p.Leu344=) | |
| MT | m.11789C>G | CA414811088 | MT-ND4 | c.1030C>G (p.Leu344Val) | |
| MT | m.11789C>T | CA414811090 | MT-ND4 | c.1030C>T (p.Leu344Phe) | |
| MT | m.11790T>A | CA414811092 | MT-ND4 | c.1031T>A (p.Leu344His) | |
| MT | m.11790T>C | CA414811094 | MT-ND4 | c.1031T>C (p.Leu344Pro) | |
| MT | m.11790T>G | CA414811096 | MT-ND4 | c.1031T>G (p.Leu344Arg) | |
| MT | m.11790T= | CA2573328379 | MT-ND4 | c.1031T= (p.Leu344=) | |
| MT | m.11791C>A | CA913168648 | MT-ND4 | c.1032C>A (p.Leu344=) | |
| MT | m.11791C= | CA2499567279 | MT-ND4 | c.1032C= (p.Leu344=) | |
| MT | m.11791C>G | CA913168650 | MT-ND4 | c.1032C>G (p.Leu344=) | |
| MT | m.11791C>T | CA913168647 | MT-ND4 | c.1032C>T (p.Leu344=) | dbSNP |
| MT | m.11792T>A | CA414811099 | MT-ND4 | c.1033T>A (p.Ser345Thr) | |
| MT | m.11792T>C | CA414811100 | MT-ND4 | c.1033T>C (p.Ser345Pro) | |
| MT | m.11792T>G | CA414811102 | MT-ND4 | c.1033T>G (p.Ser345Ala) | ClinVar dbSNP |
| MT | m.11792T= | CA2499567280 | MT-ND4 | c.1033T= (p.Ser345=) | |
| MT | m.11793C>A | CA414811108 | MT-ND4 | c.1034C>A (p.Ser345Tyr) | |
| MT | m.11793C= | CA2573328381 | MT-ND4 | c.1034C= (p.Ser345=) | |
| MT | m.11793C>G | CA414811106 | MT-ND4 | c.1034C>G (p.Ser345Cys) | |
| MT | m.11793C>T | CA414811104 | MT-ND4 | c.1034C>T (p.Ser345Phe) | |
| MT | m.11794T>A | CA913168665 | MT-ND4 | c.1035T>A (p.Ser345=) | |
| MT | m.11794T>C | CA913168667 | MT-ND4 | c.1035T>C (p.Ser345=) | dbSNP |
| MT | m.11794T>G | CA913168670 | MT-ND4 | c.1035T>G (p.Ser345=) | |
| MT | m.11794T= | CA2499567281 | MT-ND4 | c.1035T= (p.Ser345=) | |
| MT | m.11795C>A | CA414811111 | MT-ND4 | c.1036C>A (p.Gln346Lys) | |
| MT | m.11795C= | CA2573328384 | MT-ND4 | c.1036C= (p.Gln346=) | |
| MT | m.11795C>G | CA414811112 | MT-ND4 | c.1036C>G (p.Gln346Glu) | |
| MT | m.11795C>T | CA414811114 | MT-ND4 | c.1036C>T (p.Gln346Ter) | |
| MT | m.11796A= | CA2573328386 | MT-ND4 | c.1037A= (p.Gln346=) | |
| MT | m.11796A>C | CA414811116 | MT-ND4 | c.1037A>C (p.Gln346Pro) | |
| MT | m.11796A>G | CA414811118 | MT-ND4 | c.1037A>G (p.Gln346Arg) | |
| MT | m.11796A>T | CA414811119 | MT-ND4 | c.1037A>T (p.Gln346Leu) | |
| MT | m.11797A= | CA2499567282 | MT-ND4 | c.1038A= (p.Gln346=) | |
| MT | m.11797A>C | CA414811122 | MT-ND4 | c.1038A>C (p.Gln346His) | |
| MT | m.11797A>G | CA913168684 | MT-ND4 | c.1038A>G (p.Gln346=) | dbSNP |
| MT | m.11797A>T | CA414811124 | MT-ND4 | c.1038A>T (p.Gln346His) | |
| MT | m.11798G>A | CA414811127 | MT-ND4 | c.1039G>A (p.Gly347Arg) | |
| MT | m.11798G>C | CA414811128 | MT-ND4 | c.1039G>C (p.Gly347Arg) | |
| MT | m.11798G= | CA2573328389 | MT-ND4 | c.1039G= (p.Gly347=) | |
| MT | m.11798G>T | CA414811131 | MT-ND4 | c.1039G>T (p.Gly347Ter) | |
| MT | m.11799G>A | CA414811137 | MT-ND4 | c.1040G>A (p.Gly347Glu) | |
| MT | m.11799G>C | CA414811135 | MT-ND4 | c.1040G>C (p.Gly347Ala) | |
| MT | m.11799G= | CA2513060305 | MT-ND4 | c.1040G= (p.Gly347=) | |
| MT | m.11799G>T | CA414811133 | MT-ND4 | c.1040G>T (p.Gly347Val) | |
| MT | m.11800A= | CA2499567283 | MT-ND4 | c.1041A= (p.Gly347=) | |
| MT | m.11800A>C | CA913168695 | MT-ND4 | c.1041A>C (p.Gly347=) | |
| MT | m.11800A>G | CA913168696 | MT-ND4 | c.1041A>G (p.Gly347=) | dbSNP |
| MT | m.11800A>T | CA913168701 | MT-ND4 | c.1041A>T (p.Gly347=) | |
| MT | m.11801C>A | CA414811139 | MT-ND4 | c.1042C>A (p.Leu348Ile) | |
| MT | m.11801C= | CA2573328395 | MT-ND4 | c.1042C= (p.Leu348=) | |
| MT | m.11801C>G | CA414811140 | MT-ND4 | c.1042C>G (p.Leu348Val) | |
| MT | m.11801C>T | CA414811143 | MT-ND4 | c.1042C>T (p.Leu348Phe) | |
| MT | m.11802T>A | CA414811145 | MT-ND4 | c.1043T>A (p.Leu348His) | |
| MT | m.11802T>C | CA414811146 | MT-ND4 | c.1043T>C (p.Leu348Pro) | |
| MT | m.11802T>G | CA414811148 | MT-ND4 | c.1043T>G (p.Leu348Arg) | |
| MT | m.11802T= | CA2573328396 | MT-ND4 | c.1043T= (p.Leu348=) | |
| MT | m.11803T>A | CA913168711 | MT-ND4 | c.1044T>A (p.Leu348=) | |
| MT | m.11803T>C | CA913168713 | MT-ND4 | c.1044T>C (p.Leu348=) | dbSNP |
| MT | m.11803T>G | CA913168714 | MT-ND4 | c.1044T>G (p.Leu348=) | |
| MT | m.11803T= | CA2499567284 | MT-ND4 | c.1044T= (p.Leu348=) | |
| MT | m.11804C>A | CA414811150 | MT-ND4 | c.1045C>A (p.Gln349Lys) | |
| MT | m.11804C= | CA2573328399 | MT-ND4 | c.1045C= (p.Gln349=) | |
| MT | m.11804C>G | CA414811152 | MT-ND4 | c.1045C>G (p.Gln349Glu) | |
| MT | m.11804C>T | CA414811154 | MT-ND4 | c.1045C>T (p.Gln349Ter) | |
| MT | m.11805A= | CA2573328402 | MT-ND4 | c.1046A= (p.Gln349=) | |
| MT | m.11805A>C | CA414811156 | MT-ND4 | c.1046A>C (p.Gln349Pro) | |
| MT | m.11805A>G | CA414811158 | MT-ND4 | c.1046A>G (p.Gln349Arg) | |
| MT | m.11805A>T | CA414811160 | MT-ND4 | c.1046A>T (p.Gln349Leu) | |
| MT | m.11806A= | CA2573328405 | MT-ND4 | c.1047A= (p.Gln349=) | |
| MT | m.11806A>C | CA414811164 | MT-ND4 | c.1047A>C (p.Gln349His) | |
| MT | m.11806A>G | CA913168721 | MT-ND4 | c.1047A>G (p.Gln349=) | |
| MT | m.11806A>T | CA414811162 | MT-ND4 | c.1047A>T (p.Gln349His) | |
| MT | m.11807A= | CA2499567285 | MT-ND4 | c.1048A= (p.Thr350=) | |
| MT | m.11807A>C | CA414811167 | MT-ND4 | c.1048A>C (p.Thr350Pro) | |
| MT | m.11807A>G | CA414811168 | MT-ND4 | c.1048A>G (p.Thr350Ala) | ClinVar dbSNP |
| MT | m.11807A>T | CA414811170 | MT-ND4 | c.1048A>T (p.Thr350Ser) | |
| MT | m.11808C>A | CA414811173 | MT-ND4 | c.1049C>A (p.Thr350Asn) | |
| MT | m.11808C= | CA2513268984 | MT-ND4 | c.1049C= (p.Thr350=) | |
| MT | m.11808C>G | CA414811174 | MT-ND4 | c.1049C>G (p.Thr350Ser) | |
| MT | m.11808C>T | CA414811176 | MT-ND4 | c.1049C>T (p.Thr350Ile) | |
| MT | m.11809T>A | CA913168729 | MT-ND4 | c.1050T>A (p.Thr350=) | |
| MT | m.11809T>C | CA913168726 | MT-ND4 | c.1050T>C (p.Thr350=) | dbSNP |
| MT | m.11809T>G | CA913168725 | MT-ND4 | c.1050T>G (p.Thr350=) | |
| MT | m.11809T= | CA2499567286 | MT-ND4 | c.1050T= (p.Thr350=) | |
| MT | m.11810C>A | CA414811178 | MT-ND4 | c.1051C>A (p.Leu351Ile) | |
| MT | m.11810C= | CA2573328409 | MT-ND4 | c.1051C= (p.Leu351=) | |
| MT | m.11810C>G | CA414811180 | MT-ND4 | c.1051C>G (p.Leu351Val) | |
| MT | m.11810C>T | CA913168735 | MT-ND4 | c.1051C>T (p.Leu351=) | |
| MT | m.11811T>A | CA414811183 | MT-ND4 | c.1052T>A (p.Leu351Gln) | |
| MT | m.11811T>C | CA414811184 | MT-ND4 | c.1052T>C (p.Leu351Pro) | |
| MT | m.11811T>G | CA414811186 | MT-ND4 | c.1052T>G (p.Leu351Arg) | |
| MT | m.11811T= | CA2573328412 | MT-ND4 | c.1052T= (p.Leu351=) | |
| MT | m.11812A= | CA2499567287 | MT-ND4 | c.1053A= (p.Leu351=) | |
| MT | m.11812A>C | CA337099298 | MT-ND4 | c.1053A>C (p.Leu351=) | dbSNP |
| MT | m.11812A>G | CA337099300 | MT-ND4 | c.1053A>G (p.Leu351=) | dbSNP |
| MT | m.11812A>T | CA337099302 | MT-ND4 | c.1053A>T (p.Leu351=) | |
| MT | m.11813C>A | CA414811192 | MT-ND4 | c.1054C>A (p.Leu352Ile) | |
| MT | m.11813C= | CA2499567288 | MT-ND4 | c.1054C= (p.Leu352=) | |
| MT | m.11813C>G | CA414811194 | MT-ND4 | c.1054C>G (p.Leu352Val) | |
| MT | m.11813C>T | CA414811196 | MT-ND4 | c.1054C>T (p.Leu352Phe) | dbSNP |
| MT | m.11814T>A | CA414811198 | MT-ND4 | c.1055T>A (p.Leu352His) | |
| MT | m.11814T>C | CA414811200 | MT-ND4 | c.1055T>C (p.Leu352Pro) | dbSNP COSMIC |
| MT | m.11814T>G | CA414811202 | MT-ND4 | c.1055T>G (p.Leu352Arg) | |
| MT | m.11814T= | CA2499567289 | MT-ND4 | c.1055T= (p.Leu352=) | |
| MT | m.11815C>A | CA913168763 | MT-ND4 | c.1056C>A (p.Leu352=) | dbSNP |
| MT | m.11815C= | CA2499567290 | MT-ND4 | c.1056C= (p.Leu352=) | |
| MT | m.11815C>G | CA16040630 | MT-ND4 | c.1056C>G (p.Leu352=) | ClinVar dbSNP |
| MT | m.11815C>T | CA337099305 | MT-ND4 | c.1056C>T (p.Leu352=) | dbSNP |
| MT | m.11816C>A | CA414811207 | MT-ND4 | c.1057C>A (p.Pro353Thr) | |
| MT | m.11816C= | CA2573328416 | MT-ND4 | c.1057C= (p.Pro353=) | |
| MT | m.11816C>G | CA414811209 | MT-ND4 | c.1057C>G (p.Pro353Ala) | |
| MT | m.11816C>T | CA414811210 | MT-ND4 | c.1057C>T (p.Pro353Ser) | |
| MT | m.11817C>A | CA414811212 | MT-ND4 | c.1058C>A (p.Pro353Gln) | |
| MT | m.11817C= | CA2573328418 | MT-ND4 | c.1058C= (p.Pro353=) | |
| MT | m.11817C>G | CA414811214 | MT-ND4 | c.1058C>G (p.Pro353Arg) | |
| MT | m.11817C>T | CA414811216 | MT-ND4 | c.1058C>T (p.Pro353Leu) | |
| MT | m.11818A= | CA2499567291 | MT-ND4 | c.1059A= (p.Pro353=) | |
| MT | m.11818A>C | CA913168770 | MT-ND4 | c.1059A>C (p.Pro353=) | |
| MT | m.11818A>G | CA913168771 | MT-ND4 | c.1059A>G (p.Pro353=) | dbSNP |
| MT | m.11818A>T | CA913168774 | MT-ND4 | c.1059A>T (p.Pro353=) | |
| MT | m.11819C>A | CA414811219 | MT-ND4 | c.1060C>A (p.Leu354Ile) | |
| MT | m.11819C= | CA2499567292 | MT-ND4 | c.1060C= (p.Leu354=) | |
| MT | m.11819C>G | CA337099307 | MT-ND4 | c.1060C>G (p.Leu354Val) | dbSNP |
| MT | m.11819C>T | CA913168783 | MT-ND4 | c.1060C>T (p.Leu354=) | |
| MT | m.11820T>A | CA414811222 | MT-ND4 | c.1061T>A (p.Leu354Gln) | |
| MT | m.11820T>C | CA414811223 | MT-ND4 | c.1061T>C (p.Leu354Pro) | |
| MT | m.11820T>G | CA414811225 | MT-ND4 | c.1061T>G (p.Leu354Arg) | |
| MT | m.11820T= | CA2573328422 | MT-ND4 | c.1061T= (p.Leu354=) | |
| MT | m.11821A= | CA2499567293 | MT-ND4 | c.1062A= (p.Leu354=) | |
| MT | m.11821A>C | CA913168787 | MT-ND4 | c.1062A>C (p.Leu354=) | dbSNP |
| MT | m.11821A>G | CA913168788 | MT-ND4 | c.1062A>G (p.Leu354=) | dbSNP |
| MT | m.11821A>T | CA913168792 | MT-ND4 | c.1062A>T (p.Leu354=) | dbSNP |
| MT | m.11822A= | CA2573328425 | MT-ND4 | c.1063A= (p.Ile355=) | |
| MT | m.11822A>C | CA414811228 | MT-ND4 | c.1063A>C (p.Ile355Leu) | |
| MT | m.11822A>G | CA414811229 | MT-ND4 | c.1063A>G (p.Ile355Val) | |
| MT | m.11822A>T | CA414811231 | MT-ND4 | c.1063A>T (p.Ile355Leu) | |
| MT | m.11823T>A | CA414811234 | MT-ND4 | c.1064T>A (p.Ile355Lys) | |
| MT | m.11823T>C | CA414811235 | MT-ND4 | c.1064T>C (p.Ile355Thr) | |
| MT | m.11823T>G | CA414811237 | MT-ND4 | c.1064T>G (p.Ile355Arg) | |
| MT | m.11823T= | CA2573328428 | MT-ND4 | c.1064T= (p.Ile355=) | |
| MT | m.11824A= | CA2499567294 | MT-ND4 | c.1065A= (p.Ile355=) | |
| MT | m.11824A>C | CA913168809 | MT-ND4 | c.1065A>C (p.Ile355=) | |
| MT | m.11824A>G | CA414811240 | MT-ND4 | c.1065A>G (p.Ile355Met) | dbSNP |
| MT | m.11824A>T | CA913168810 | MT-ND4 | c.1065A>T (p.Ile355=) | |
| MT | m.11825G>A | CA337099309 | MT-ND4 | c.1066G>A (p.Ala356Thr) | ClinVar dbSNP |
| MT | m.11825G>C | CA414811243 | MT-ND4 | c.1066G>C (p.Ala356Pro) | |
| MT | m.11825G= | CA2499567295 | MT-ND4 | c.1066G= (p.Ala356=) | |
| MT | m.11825G>T | CA414811244 | MT-ND4 | c.1066G>T (p.Ala356Ser) | |
| MT | m.11826C>A | CA414811248 | MT-ND4 | c.1067C>A (p.Ala356Asp) | |
| MT | m.11826C= | CA2513149651 | MT-ND4 | c.1067C= (p.Ala356=) | |
| MT | m.11826C>G | CA414811251 | MT-ND4 | c.1067C>G (p.Ala356Gly) | |
| MT | m.11826C>T | CA414811249 | MT-ND4 | c.1067C>T (p.Ala356Val) | |
| MT | m.11827T>A | CA913168818 | MT-ND4 | c.1068T>A (p.Ala356=) | |
| MT | m.11827T>C | CA337099311 | MT-ND4 | c.1068T>C (p.Ala356=) | dbSNP |
| MT | m.11827T>G | CA913168821 | MT-ND4 | c.1068T>G (p.Ala356=) | |
| MT | m.11827T= | CA2499567296 | MT-ND4 | c.1068T= (p.Ala356=) | |
| MT | m.11828T>A | CA414811255 | MT-ND4 | c.1069T>A (p.Phe357Ile) | |
| MT | m.11828T>C | CA414811257 | MT-ND4 | c.1069T>C (p.Phe357Leu) | |
| MT | m.11828T>G | CA414811258 | MT-ND4 | c.1069T>G (p.Phe357Val) | |
| MT | m.11828T= | CA2573328432 | MT-ND4 | c.1069T= (p.Phe357=) | |
| MT | m.11829T>A | CA414811261 | MT-ND4 | c.1070T>A (p.Phe357Tyr) | |
| MT | m.11829T>C | CA414811263 | MT-ND4 | c.1070T>C (p.Phe357Ser) | dbSNP |
| MT | m.11829T>G | CA414811265 | MT-ND4 | c.1070T>G (p.Phe357Cys) | |
| MT | m.11829T= | CA2499567297 | MT-ND4 | c.1070T= (p.Phe357=) | |
| MT | m.11830T>A | CA414811266 | MT-ND4 | c.1071T>A (p.Phe357Leu) | |
| MT | m.11830T>C | CA913168836 | MT-ND4 | c.1071T>C (p.Phe357=) | dbSNP |
| MT | m.11830T>G | CA414811268 | MT-ND4 | c.1071T>G (p.Phe357Leu) | |
| MT | m.11830T= | CA2499567298 | MT-ND4 | c.1071T= (p.Phe357=) | |
| MT | m.11831T>A | CA414811271 | MT-ND4 | c.1072T>A (p.Ter358Arg) | |
| MT | m.11831T>C | CA414811272 | MT-ND4 | c.1072T>C (p.Ter358Arg) | |
| MT | m.11831T>G | CA414811274 | MT-ND4 | c.1072T>G (p.Ter358Gly) | |
| MT | m.11831T= | CA414811276 | MT-ND4 | c.1072T= (p.Ter358=) | |
| MT | m.11832G>A | CA414811278 | MT-ND4 | c.1073G>A (p.Ter358=) | |
| MT | m.11832G>C | CA414811284 | MT-ND4 | c.1073G>C (p.Ter358Ser) | |
| MT | m.11832G= | CA414811282 | MT-ND4 | c.1073G= (p.Ter358=) | |
| MT | m.11832G>T | CA414811281 | MT-ND4 | c.1073G>T (p.Ter358Leu) | |
| MT | m.11833A= | CA414811287 | MT-ND4 | c.1074A= (p.Ter358=) | |
| MT | m.11833A>C | CA414811288 | MT-ND4 | c.1074A>C (p.Ter358Cys) | |
| MT | m.11833A>G | CA414811291 | MT-ND4 | c.1074A>G (p.Ter358Trp) | |
| MT | m.11833A>T | CA414811293 | MT-ND4 | c.1074A>T (p.Ter358Cys) | |
| MT | m.11834T>A | CA414811296 | MT-ND4 | c.1075T>A (p.Ter359Arg) | |
| MT | m.11834T>C | CA414811297 | MT-ND4 | c.1075T>C (p.Ter359Arg) | |
| MT | m.11834T>G | CA414811299 | MT-ND4 | c.1075T>G (p.Ter359Gly) | |
| MT | m.11834T= | CA414811301 | MT-ND4 | c.1075T= (p.Ter359=) | |
| MT | m.11835G>A | CA414811303 | MT-ND4 | c.1076G>A (p.Ter359=) | |
| MT | m.11835G>C | CA414811307 | MT-ND4 | c.1076G>C (p.Ter359Ser) | |
| MT | m.11835G= | CA414811309 | MT-ND4 | c.1076G= (p.Ter359=) | |
| MT | m.11835G>T | CA414811304 | MT-ND4 | c.1076G>T (p.Ter359Leu) | |
| MT | m.11836A= | CA414811317 | MT-ND4 | c.1077A= (p.Ter359=) | |
| MT | m.11836A>C | CA414811311 | MT-ND4 | c.1077A>C (p.Ter359Cys) | |
| MT | m.11836A>G | CA414811313 | MT-ND4 | c.1077A>G (p.Ter359Trp) | dbSNP |
| MT | m.11836A>T | CA414811315 | MT-ND4 | c.1077A>T (p.Ter359Cys) | |
| MT | m.11837C>A | CA414811319 | MT-ND4 | c.1078C>A (p.Leu360Ile) | |
| MT | m.11837C= | CA2573328440 | MT-ND4 | c.1078C= (p.Leu360=) | |
| MT | m.11837C>G | CA414811321 | MT-ND4 | c.1078C>G (p.Leu360Val) | |
| MT | m.11837C>T | CA414811322 | MT-ND4 | c.1078C>T (p.Leu360Phe) | |
| MT | m.11838T>A | CA414811325 | MT-ND4 | c.1079T>A (p.Leu360His) | |
| MT | m.11838T>C | CA414811326 | MT-ND4 | c.1079T>C (p.Leu360Pro) | |
| MT | m.11838T>G | CA414811328 | MT-ND4 | c.1079T>G (p.Leu360Arg) | |
| MT | m.11838T= | CA2573328442 | MT-ND4 | c.1079T= (p.Leu360=) | |
| MT | m.11839T>A | CA913168873 | MT-ND4 | c.1080T>A (p.Leu360=) | |
| MT | m.11839T>C | CA913168870 | MT-ND4 | c.1080T>C (p.Leu360=) | |
| MT | m.11839T>G | CA913168869 | MT-ND4 | c.1080T>G (p.Leu360=) | |
| MT | m.11839T= | CA2513643924 | MT-ND4 | c.1080T= (p.Leu360=) | |
| MT | m.11840C>A | CA414811331 | MT-ND4 | c.1081C>A (p.Leu361Ile) | |
| MT | m.11840C= | CA2499567299 | MT-ND4 | c.1081C= (p.Leu361=) | |
| MT | m.11840C>G | CA414811333 | MT-ND4 | c.1081C>G (p.Leu361Val) | |
| MT | m.11840C>T | CA337099313 | MT-ND4 | c.1081C>T (p.Leu361=) | dbSNP |
| MT | m.11841T>A | CA414811336 | MT-ND4 | c.1082T>A (p.Leu361Gln) | |
| MT | m.11841T>C | CA414811340 | MT-ND4 | c.1082T>C (p.Leu361Pro) | dbSNP |
| MT | m.11841T>G | CA414811338 | MT-ND4 | c.1082T>G (p.Leu361Arg) | |
| MT | m.11841T= | CA2573328447 | MT-ND4 | c.1082T= (p.Leu361=) | |
| MT | m.11842A= | CA2499567300 | MT-ND4 | c.1083A= (p.Leu361=) | |
| MT | m.11842A>C | CA913168877 | MT-ND4 | c.1083A>C (p.Leu361=) | |
| MT | m.11842A>G | CA913168879 | MT-ND4 | c.1083A>G (p.Leu361=) | dbSNP |
| MT | m.11842A>T | CA913168878 | MT-ND4 | c.1083A>T (p.Leu361=) | |
| MT | m.11843G>A | CA337099315 | MT-ND4 | c.1084G>A (p.Ala362Thr) | dbSNP |
| MT | m.11843G>C | CA414811344 | MT-ND4 | c.1084G>C (p.Ala362Pro) | |
| MT | m.11843G= | CA2499567301 | MT-ND4 | c.1084G= (p.Ala362=) | |
| MT | m.11843G>T | CA414811345 | MT-ND4 | c.1084G>T (p.Ala362Ser) | |
| MT | m.11844C>A | CA414811348 | MT-ND4 | c.1085C>A (p.Ala362Glu) | |
| MT | m.11844C= | CA2573328450 | MT-ND4 | c.1085C= (p.Ala362=) | |
| MT | m.11844C>G | CA414811350 | MT-ND4 | c.1085C>G (p.Ala362Gly) | |
| MT | m.11844C>T | CA414811352 | MT-ND4 | c.1085C>T (p.Ala362Val) | |
| MT | m.11845A= | CA2573328453 | MT-ND4 | c.1086A= (p.Ala362=) | |
| MT | m.11845A>C | CA913168885 | MT-ND4 | c.1086A>C (p.Ala362=) | |
| MT | m.11845A>G | CA913168883 | MT-ND4 | c.1086A>G (p.Ala362=) | |
| MT | m.11845A>T | CA913168884 | MT-ND4 | c.1086A>T (p.Ala362=) | |
| MT | m.11846A= | CA2573328454 | MT-ND4 | c.1087A= (p.Ser363=) | |
| MT | m.11846A>C | CA414811354 | MT-ND4 | c.1087A>C (p.Ser363Arg) | |
| MT | m.11846A>G | CA414811356 | MT-ND4 | c.1087A>G (p.Ser363Gly) | |
| MT | m.11846A>T | CA414811358 | MT-ND4 | c.1087A>T (p.Ser363Cys) | |
| MT | m.11847G>A | CA414811363 | MT-ND4 | c.1088G>A (p.Ser363Asn) | |
| MT | m.11847G>C | CA414811362 | MT-ND4 | c.1088G>C (p.Ser363Thr) | |
| MT | m.11847G= | CA2573328456 | MT-ND4 | c.1088G= (p.Ser363=) | |
| MT | m.11847G>T | CA414811360 | MT-ND4 | c.1088G>T (p.Ser363Ile) | |
| MT | m.11848C>A | CA414811366 | MT-ND4 | c.1089C>A (p.Ser363Arg) | |
| MT | m.11848C= | CA2573328458 | MT-ND4 | c.1089C= (p.Ser363=) | |
| MT | m.11848C>G | CA414811368 | MT-ND4 | c.1089C>G (p.Ser363Arg) | |
| MT | m.11848C>T | CA913168891 | MT-ND4 | c.1089C>T (p.Ser363=) | |
| MT | m.11849C>A | CA414811370 | MT-ND4 | c.1090C>A (p.Leu364Ile) | |
| MT | m.11849C= | CA2573328460 | MT-ND4 | c.1090C= (p.Leu364=) | |
| MT | m.11849C>G | CA414811372 | MT-ND4 | c.1090C>G (p.Leu364Val) | |
| MT | m.11849C>T | CA414811374 | MT-ND4 | c.1090C>T (p.Leu364Phe) |