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.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8815_13722del | CA645373338 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.10106_15067del | CA645373340 | ClinVar | ||
| MT | m.10775_14941del | CA2740090229 | ClinVar | ||
| MT | m.10950_15540del | CA2580102079 | ClinVar | ||
| MT | m.11263_15374del | CA645373341 | ClinVar | ||
| MT | m.12114_14420del | CA645373342 | ClinVar | ||
| MT | m.13414G>A | CA414817896 | MT-ND5 | c.1078G>A (p.Gly360Arg) | |
| MT | m.13414G>C | CA414817898 | MT-ND5 | c.1078G>C (p.Gly360Arg) | |
| MT | m.13414G= | CA2573324289 | MT-ND5 | c.1078G= (p.Gly360=) | |
| MT | m.13414G>T | CA414817899 | MT-ND5 | c.1078G>T (p.Gly360Ter) | |
| MT | m.13415G>A | CA414817902 | MT-ND5 | c.1079G>A (p.Gly360Glu) | ClinVar dbSNP |
| MT | m.13415G>C | CA414817903 | MT-ND5 | c.1079G>C (p.Gly360Ala) | |
| MT | m.13415G= | CA2499567993 | MT-ND5 | c.1079G= (p.Gly360=) | |
| MT | m.13415G>T | CA414817905 | MT-ND5 | c.1079G>T (p.Gly360Val) | |
| MT | m.13416A= | CA2499567994 | MT-ND5 | c.1080A= (p.Gly360=) | |
| MT | m.13416A>C | CA913170947 | MT-ND5 | c.1080A>C (p.Gly360=) | |
| MT | m.13416A>G | CA913170948 | MT-ND5 | c.1080A>G (p.Gly360=) | dbSNP |
| MT | m.13416A>T | CA913170949 | MT-ND5 | c.1080A>T (p.Gly360=) | |
| MT | m.13417G>A | CA414817908 | MT-ND5 | c.1081G>A (p.Gly361Arg) | COSMIC |
| MT | m.13417G>C | CA414817909 | MT-ND5 | c.1081G>C (p.Gly361Arg) | |
| MT | m.13417G= | CA2573324297 | MT-ND5 | c.1081G= (p.Gly361=) | |
| MT | m.13417G>T | CA414817911 | MT-ND5 | c.1081G>T (p.Gly361Ter) | |
| MT | m.13418G>A | CA414817915 | MT-ND5 | c.1082G>A (p.Gly361Glu) | COSMIC |
| MT | m.13418G>C | CA414817916 | MT-ND5 | c.1082G>C (p.Gly361Ala) | |
| MT | m.13418G= | CA2573324302 | MT-ND5 | c.1082G= (p.Gly361=) | |
| MT | m.13418G>T | CA414817913 | MT-ND5 | c.1082G>T (p.Gly361Val) | |
| MT | m.13419A= | CA2499567995 | MT-ND5 | c.1083A= (p.Gly361=) | |
| MT | m.13419A>C | CA913170950 | MT-ND5 | c.1083A>C (p.Gly361=) | |
| MT | m.13419A>G | CA913170951 | MT-ND5 | c.1083A>G (p.Gly361=) | dbSNP |
| MT | m.13419A>T | CA913170952 | MT-ND5 | c.1083A>T (p.Gly361=) | |
| MT | m.13420C>A | CA414817919 | MT-ND5 | c.1084C>A (p.Leu362Ile) | |
| MT | m.13420C= | CA2499567996 | MT-ND5 | c.1084C= (p.Leu362=) | |
| MT | m.13420C>G | CA414817921 | MT-ND5 | c.1084C>G (p.Leu362Val) | |
| MT | m.13420C>T | CA913170953 | MT-ND5 | c.1084C>T (p.Leu362=) | dbSNP |
| MT | m.13421T>A | CA414817923 | MT-ND5 | c.1085T>A (p.Leu362Gln) | |
| MT | m.13421T>C | CA414817925 | MT-ND5 | c.1085T>C (p.Leu362Pro) | |
| MT | m.13421T>G | CA414817927 | MT-ND5 | c.1085T>G (p.Leu362Arg) | |
| MT | m.13421T= | CA2573324306 | MT-ND5 | c.1085T= (p.Leu362=) | |
| MT | m.13422A= | CA2499567997 | MT-ND5 | c.1086A= (p.Leu362=) | |
| MT | m.13422A>C | CA337099682 | MT-ND5 | c.1086A>C (p.Leu362=) | |
| MT | m.13422A>G | CA913170954 | MT-ND5 | c.1086A>G (p.Leu362=) | dbSNP |
| MT | m.13422A>T | CA337099680 | MT-ND5 | c.1086A>T (p.Leu362=) | |
| MT | m.13423C>A | CA414817931 | MT-ND5 | c.1087C>A (p.Leu363Ile) | |
| MT | m.13423C= | CA2499567998 | MT-ND5 | c.1087C= (p.Leu363=) | |
| MT | m.13423C>G | CA414817933 | MT-ND5 | c.1087C>G (p.Leu363Val) | |
| MT | m.13423C>T | CA337099684 | MT-ND5 | c.1087C>T (p.Leu363Phe) | dbSNP |
| MT | m.13424T>A | CA414817936 | MT-ND5 | c.1088T>A (p.Leu363His) | |
| MT | m.13424T>C | CA414817938 | MT-ND5 | c.1088T>C (p.Leu363Pro) | COSMIC |
| MT | m.13424T>G | CA414817940 | MT-ND5 | c.1088T>G (p.Leu363Arg) | |
| MT | m.13424T= | CA2573324312 | MT-ND5 | c.1088T= (p.Leu363=) | |
| MT | m.13425C>A | CA913170957 | MT-ND5 | c.1089C>A (p.Leu363=) | |
| MT | m.13425C= | CA2573324315 | MT-ND5 | c.1089C= (p.Leu363=) | |
| MT | m.13425C>G | CA913170955 | MT-ND5 | c.1089C>G (p.Leu363=) | |
| MT | m.13425C>T | CA913170956 | MT-ND5 | c.1089C>T (p.Leu363=) | |
| MT | m.13426A= | CA2573324319 | MT-ND5 | c.1090A= (p.Lys364=) | |
| MT | m.13426A>C | CA414817942 | MT-ND5 | c.1090A>C (p.Lys364Gln) | |
| MT | m.13426A>G | CA414817946 | MT-ND5 | c.1090A>G (p.Lys364Glu) | |
| MT | m.13426A>T | CA414817944 | MT-ND5 | c.1090A>T (p.Lys364Ter) | |
| MT | m.13427A= | CA2573324322 | MT-ND5 | c.1091A= (p.Lys364=) | |
| MT | m.13427A>C | CA414817948 | MT-ND5 | c.1091A>C (p.Lys364Thr) | |
| MT | m.13427A>G | CA414817950 | MT-ND5 | c.1091A>G (p.Lys364Arg) | |
| MT | m.13427A>T | CA414817952 | MT-ND5 | c.1091A>T (p.Lys364Ile) | |
| MT | m.13428A= | CA2573324327 | MT-ND5 | c.1092A= (p.Lys364=) | |
| MT | m.13428A>C | CA414817954 | MT-ND5 | c.1092A>C (p.Lys364Asn) | |
| MT | m.13428A>G | CA913170958 | MT-ND5 | c.1092A>G (p.Lys364=) | |
| MT | m.13428A>T | CA414817956 | MT-ND5 | c.1092A>T (p.Lys364Asn) | |
| MT | m.13429A= | CA2573324331 | MT-ND5 | c.1093A= (p.Thr365=) | |
| MT | m.13429A>C | CA414817958 | MT-ND5 | c.1093A>C (p.Thr365Pro) | |
| MT | m.13429A>G | CA414817960 | MT-ND5 | c.1093A>G (p.Thr365Ala) | |
| MT | m.13429A>T | CA414817962 | MT-ND5 | c.1093A>T (p.Thr365Ser) | |
| MT | m.13430C>A | CA414817964 | MT-ND5 | c.1094C>A (p.Thr365Asn) | |
| MT | m.13430C= | CA2573324334 | MT-ND5 | c.1094C= (p.Thr365=) | |
| MT | m.13430C>G | CA414817966 | MT-ND5 | c.1094C>G (p.Thr365Ser) | |
| MT | m.13430C>T | CA414817968 | MT-ND5 | c.1094C>T (p.Thr365Ile) | |
| MT | m.13431C>A | CA913170960 | MT-ND5 | c.1095C>A (p.Thr365=) | |
| MT | m.13431C= | CA2499567999 | MT-ND5 | c.1095C= (p.Thr365=) | |
| MT | m.13431C>G | CA913170959 | MT-ND5 | c.1095C>G (p.Thr365=) | |
| MT | m.13431C>T | CA337099686 | MT-ND5 | c.1095C>T (p.Thr365=) | dbSNP |
| MT | m.13432A= | CA2573324339 | MT-ND5 | c.1096A= (p.Ile366=) | |
| MT | m.13432A>C | CA414817973 | MT-ND5 | c.1096A>C (p.Ile366Leu) | |
| MT | m.13432A>G | CA414817972 | MT-ND5 | c.1096A>G (p.Ile366Val) | |
| MT | m.13432A>T | CA414817975 | MT-ND5 | c.1096A>T (p.Ile366Leu) | |
| MT | m.13433T>A | CA414817978 | MT-ND5 | c.1097T>A (p.Ile366Lys) | |
| MT | m.13433T>C | CA414817979 | MT-ND5 | c.1097T>C (p.Ile366Thr) | |
| MT | m.13433T>G | CA414817981 | MT-ND5 | c.1097T>G (p.Ile366Arg) | |
| MT | m.13433T= | CA2573324342 | MT-ND5 | c.1097T= (p.Ile366=) | |
| MT | m.13434A= | CA2499568000 | MT-ND5 | c.1098A= (p.Ile366=) | |
| MT | m.13434A>C | CA913170962 | MT-ND5 | c.1098A>C (p.Ile366=) | |
| MT | m.13434A>G | CA414817983 | MT-ND5 | c.1098A>G (p.Ile366Met) | dbSNP |
| MT | m.13434A>T | CA913170961 | MT-ND5 | c.1098A>T (p.Ile366=) | |
| MT | m.13435C>A | CA414817986 | MT-ND5 | c.1099C>A (p.Pro367Thr) | |
| MT | m.13435C= | CA2573324347 | MT-ND5 | c.1099C= (p.Pro367=) | |
| MT | m.13435C>G | CA414817988 | MT-ND5 | c.1099C>G (p.Pro367Ala) | |
| MT | m.13435C>T | CA414817989 | MT-ND5 | c.1099C>T (p.Pro367Ser) | |
| MT | m.13436C>A | CA414817990 | MT-ND5 | c.1100C>A (p.Pro367His) | ClinVar dbSNP |
| MT | m.13436C= | CA2499568001 | MT-ND5 | c.1100C= (p.Pro367=) | |
| MT | m.13436C>G | CA414817992 | MT-ND5 | c.1100C>G (p.Pro367Arg) | |
| MT | m.13436C>T | CA414817994 | MT-ND5 | c.1100C>T (p.Pro367Leu) | |
| MT | m.13437T>A | CA913170963 | MT-ND5 | c.1101T>A (p.Pro367=) | |
| MT | m.13437T>C | CA337099688 | MT-ND5 | c.1101T>C (p.Pro367=) | dbSNP |
| MT | m.13437T>G | CA913170964 | MT-ND5 | c.1101T>G (p.Pro367=) | |
| MT | m.13437T= | CA2499568002 | MT-ND5 | c.1101T= (p.Pro367=) | |
| MT | m.13438C>A | CA414818001 | MT-ND5 | c.1102C>A (p.Leu368Ile) | ClinVar dbSNP |
| MT | m.13438C= | CA2499568003 | MT-ND5 | c.1102C= (p.Leu368=) | |
| MT | m.13438C>G | CA414817998 | MT-ND5 | c.1102C>G (p.Leu368Val) | |
| MT | m.13438C>T | CA414818000 | MT-ND5 | c.1102C>T (p.Leu368Phe) | dbSNP |
| MT | m.13439T>A | CA414818003 | MT-ND5 | c.1103T>A (p.Leu368His) | |
| MT | m.13439T>C | CA414818005 | MT-ND5 | c.1103T>C (p.Leu368Pro) | |
| MT | m.13439T>G | CA414818007 | MT-ND5 | c.1103T>G (p.Leu368Arg) | |
| MT | m.13439T= | CA2513667121 | MT-ND5 | c.1103T= (p.Leu368=) | |
| MT | m.13440C>A | CA913170965 | MT-ND5 | c.1104C>A (p.Leu368=) | dbSNP |
| MT | m.13440C= | CA2499568004 | MT-ND5 | c.1104C= (p.Leu368=) | |
| MT | m.13440C>G | CA913170966 | MT-ND5 | c.1104C>G (p.Leu368=) | |
| MT | m.13440C>T | CA337099690 | MT-ND5 | c.1104C>T (p.Leu368=) | dbSNP |
| MT | m.13441A= | CA2573324366 | MT-ND5 | c.1105A= (p.Thr369=) | |
| MT | m.13441A>C | CA414818011 | MT-ND5 | c.1105A>C (p.Thr369Pro) | |
| MT | m.13441A>G | CA414818012 | MT-ND5 | c.1105A>G (p.Thr369Ala) | |
| MT | m.13441A>T | CA414818013 | MT-ND5 | c.1105A>T (p.Thr369Ser) | |
| MT | m.13442C>A | CA414818016 | MT-ND5 | c.1106C>A (p.Thr369Asn) | |
| MT | m.13442C= | CA2573324367 | MT-ND5 | c.1106C= (p.Thr369=) | |
| MT | m.13442C>G | CA414818017 | MT-ND5 | c.1106C>G (p.Thr369Ser) | |
| MT | m.13442C>T | CA414818018 | MT-ND5 | c.1106C>T (p.Thr369Ile) | |
| MT | m.13443T>A | CA913170967 | MT-ND5 | c.1107T>A (p.Thr369=) | |
| MT | m.13443T>C | CA913170968 | MT-ND5 | c.1107T>C (p.Thr369=) | dbSNP |
| MT | m.13443T>G | CA913170969 | MT-ND5 | c.1107T>G (p.Thr369=) | |
| MT | m.13443T= | CA2499568005 | MT-ND5 | c.1107T= (p.Thr369=) | |
| MT | m.13444T>A | CA414818024 | MT-ND5 | c.1108T>A (p.Ser370Thr) | |
| MT | m.13444T>C | CA414818025 | MT-ND5 | c.1108T>C (p.Ser370Pro) | |
| MT | m.13444T>G | CA414818022 | MT-ND5 | c.1108T>G (p.Ser370Ala) | |
| MT | m.13444T= | CA2573324372 | MT-ND5 | c.1108T= (p.Ser370=) | |
| MT | m.13445C>A | CA414818027 | MT-ND5 | c.1109C>A (p.Ser370Ter) | |
| MT | m.13445C= | CA2573324373 | MT-ND5 | c.1109C= (p.Ser370=) | |
| MT | m.13445C>G | CA414818029 | MT-ND5 | c.1109C>G (p.Ser370Ter) | |
| MT | m.13445C>T | CA414818031 | MT-ND5 | c.1109C>T (p.Ser370Leu) | |
| MT | m.13446A= | CA2573324378 | MT-ND5 | c.1110A= (p.Ser370=) | |
| MT | m.13446A>C | CA913170970 | MT-ND5 | c.1110A>C (p.Ser370=) | |
| MT | m.13446A>G | CA913170971 | MT-ND5 | c.1110A>G (p.Ser370=) | |
| MT | m.13446A>T | CA913170972 | MT-ND5 | c.1110A>T (p.Ser370=) | |
| MT | m.13447A= | CA2499568006 | MT-ND5 | c.1111A= (p.Thr371=) | |
| MT | m.13447A>C | CA414818033 | MT-ND5 | c.1111A>C (p.Thr371Pro) | |
| MT | m.13447A>G | CA414818035 | MT-ND5 | c.1111A>G (p.Thr371Ala) | dbSNP |
| MT | m.13447A>T | CA414818037 | MT-ND5 | c.1111A>T (p.Thr371Ser) | |
| MT | m.13448C>A | CA414818040 | MT-ND5 | c.1112C>A (p.Thr371Asn) | |
| MT | m.13448C= | CA2573324383 | MT-ND5 | c.1112C= (p.Thr371=) | |
| MT | m.13448C>G | CA414818041 | MT-ND5 | c.1112C>G (p.Thr371Ser) | |
| MT | m.13448C>T | CA414818043 | MT-ND5 | c.1112C>T (p.Thr371Ile) | |
| MT | m.13449C>A | CA913170973 | MT-ND5 | c.1113C>A (p.Thr371=) | |
| MT | m.13449C= | CA2499568007 | MT-ND5 | c.1113C= (p.Thr371=) | |
| MT | m.13449C>G | CA913170974 | MT-ND5 | c.1113C>G (p.Thr371=) | |
| MT | m.13449C>T | CA913170975 | MT-ND5 | c.1113C>T (p.Thr371=) | dbSNP |
| MT | m.13450T>A | CA414818046 | MT-ND5 | c.1114T>A (p.Ser372Thr) | |
| MT | m.13450T>C | CA414818048 | MT-ND5 | c.1114T>C (p.Ser372Pro) | |
| MT | m.13450T>G | CA414818049 | MT-ND5 | c.1114T>G (p.Ser372Ala) | |
| MT | m.13450T= | CA2573324388 | MT-ND5 | c.1114T= (p.Ser372=) | |
| MT | m.13451C>A | CA414818055 | MT-ND5 | c.1115C>A (p.Ser372Tyr) | |
| MT | m.13451C= | CA2573324391 | MT-ND5 | c.1115C= (p.Ser372=) | |
| MT | m.13451C>G | CA414818052 | MT-ND5 | c.1115C>G (p.Ser372Cys) | |
| MT | m.13451C>T | CA414818054 | MT-ND5 | c.1115C>T (p.Ser372Phe) | |
| MT | m.13452C>A | CA913170978 | MT-ND5 | c.1116C>A (p.Ser372=) | |
| MT | m.13452C= | CA2499568008 | MT-ND5 | c.1116C= (p.Ser372=) | |
| MT | m.13452C>G | CA913170976 | MT-ND5 | c.1116C>G (p.Ser372=) | |
| MT | m.13452C>T | CA913170977 | MT-ND5 | c.1116C>T (p.Ser372=) | dbSNP |
| MT | m.13453C>A | CA414818057 | MT-ND5 | c.1117C>A (p.Leu373Ile) | |
| MT | m.13453C= | CA2573324396 | MT-ND5 | c.1117C= (p.Leu373=) | |
| MT | m.13453C>G | CA414818059 | MT-ND5 | c.1117C>G (p.Leu373Val) | |
| MT | m.13453C>T | CA414818061 | MT-ND5 | c.1117C>T (p.Leu373Phe) | |
| MT | m.13454T>A | CA414818063 | MT-ND5 | c.1118T>A (p.Leu373His) | |
| MT | m.13454T>C | CA414818065 | MT-ND5 | c.1118T>C (p.Leu373Pro) | |
| MT | m.13454T>G | CA414818067 | MT-ND5 | c.1118T>G (p.Leu373Arg) | |
| MT | m.13454T= | CA2573324400 | MT-ND5 | c.1118T= (p.Leu373=) | |
| MT | m.13455C>A | CA913170979 | MT-ND5 | c.1119C>A (p.Leu373=) | |
| MT | m.13455C= | CA2499568009 | MT-ND5 | c.1119C= (p.Leu373=) | |
| MT | m.13455C>G | CA913170980 | MT-ND5 | c.1119C>G (p.Leu373=) | |
| MT | m.13455C>T | CA913170981 | MT-ND5 | c.1119C>T (p.Leu373=) | dbSNP |
| MT | m.13456A= | CA2573324405 | MT-ND5 | c.1120A= (p.Thr374=) | |
| MT | m.13456A>C | CA414818069 | MT-ND5 | c.1120A>C (p.Thr374Pro) | |
| MT | m.13456A>G | CA414818071 | MT-ND5 | c.1120A>G (p.Thr374Ala) | |
| MT | m.13456A>T | CA414818073 | MT-ND5 | c.1120A>T (p.Thr374Ser) | |
| MT | m.13457C>A | CA414818075 | MT-ND5 | c.1121C>A (p.Thr374Asn) | |
| MT | m.13457C= | CA2573324412 | MT-ND5 | c.1121C= (p.Thr374=) | |
| MT | m.13457C>G | CA414818077 | MT-ND5 | c.1121C>G (p.Thr374Ser) | |
| MT | m.13457C>T | CA414818079 | MT-ND5 | c.1121C>T (p.Thr374Ile) | |
| MT | m.13458C>A | CA913170982 | MT-ND5 | c.1122C>A (p.Thr374=) | |
| MT | m.13458C= | CA2573324415 | MT-ND5 | c.1122C= (p.Thr374=) | |
| MT | m.13458C>G | CA913170983 | MT-ND5 | c.1122C>G (p.Thr374=) | |
| MT | m.13458C>T | CA913170984 | MT-ND5 | c.1122C>T (p.Thr374=) | |
| MT | m.13459A= | CA2573324423 | MT-ND5 | c.1123A= (p.Ile375=) | |
| MT | m.13459A>C | CA414818085 | MT-ND5 | c.1123A>C (p.Ile375Leu) | |
| MT | m.13459A>G | CA414818081 | MT-ND5 | c.1123A>G (p.Ile375Val) | |
| MT | m.13459A>T | CA414818084 | MT-ND5 | c.1123A>T (p.Ile375Phe) | |
| MT | m.13460T>A | CA414818088 | MT-ND5 | c.1124T>A (p.Ile375Asn) | |
| MT | m.13460T>C | CA414818091 | MT-ND5 | c.1124T>C (p.Ile375Thr) | |
| MT | m.13460T>G | CA414818089 | MT-ND5 | c.1124T>G (p.Ile375Ser) | |
| MT | m.13460T= | CA2573324427 | MT-ND5 | c.1124T= (p.Ile375=) | |
| MT | m.13461T>A | CA913170985 | MT-ND5 | c.1125T>A (p.Ile375=) | |
| MT | m.13461T>C | CA913170986 | MT-ND5 | c.1125T>C (p.Ile375=) | dbSNP |
| MT | m.13461T>G | CA414818094 | MT-ND5 | c.1125T>G (p.Ile375Met) | |
| MT | m.13461T= | CA2499568010 | MT-ND5 | c.1125T= (p.Ile375=) | |
| MT | m.13462G>A | CA414818099 | MT-ND5 | c.1126G>A (p.Gly376Ser) | dbSNP |
| MT | m.13462G>C | CA414818095 | MT-ND5 | c.1126G>C (p.Gly376Arg) | |
| MT | m.13462G= | CA2573324432 | MT-ND5 | c.1126G= (p.Gly376=) | |
| MT | m.13462G>T | CA414818097 | MT-ND5 | c.1126G>T (p.Gly376Cys) | |
| MT | m.13463G>A | CA414818102 | MT-ND5 | c.1127G>A (p.Gly376Asp) | ClinVar dbSNP COSMIC |
| MT | m.13463G>C | CA414818103 | MT-ND5 | c.1127G>C (p.Gly376Ala) | |
| MT | m.13463G= | CA2499568011 | MT-ND5 | c.1127G= (p.Gly376=) | |
| MT | m.13463G>T | CA414818105 | MT-ND5 | c.1127G>T (p.Gly376Val) | |
| MT | m.13464C>A | CA913170987 | MT-ND5 | c.1128C>A (p.Gly376=) | |
| MT | m.13464C= | CA2499568012 | MT-ND5 | c.1128C= (p.Gly376=) | |
| MT | m.13464C>G | CA913170988 | MT-ND5 | c.1128C>G (p.Gly376=) | |
| MT | m.13464C>T | CA645611418 | MT-ND5 | c.1128C>T (p.Gly376=) | dbSNP COSMIC |
| MT | m.13465A= | CA2573324445 | MT-ND5 | c.1129A= (p.Ser377=) | |
| MT | m.13465A>C | CA414818108 | MT-ND5 | c.1129A>C (p.Ser377Arg) | |
| MT | m.13465A>G | CA414818110 | MT-ND5 | c.1129A>G (p.Ser377Gly) | |
| MT | m.13465A>T | CA414818111 | MT-ND5 | c.1129A>T (p.Ser377Cys) | |
| MT | m.13466G>A | CA337099693 | MT-ND5 | c.1130G>A (p.Ser377Asn) | ClinVar dbSNP |
| MT | m.13466G>C | CA414818114 | MT-ND5 | c.1130G>C (p.Ser377Thr) | ClinVar dbSNP |
| MT | m.13466G= | CA2499568013 | MT-ND5 | c.1130G= (p.Ser377=) | |
| MT | m.13466G>T | CA414818116 | MT-ND5 | c.1130G>T (p.Ser377Ile) | |
| MT | m.13467C>A | CA414818118 | MT-ND5 | c.1131C>A (p.Ser377Arg) | |
| MT | m.13467C= | CA2573324459 | MT-ND5 | c.1131C= (p.Ser377=) | |
| MT | m.13467C>G | CA414818120 | MT-ND5 | c.1131C>G (p.Ser377Arg) | |
| MT | m.13467C>T | CA913170989 | MT-ND5 | c.1131C>T (p.Ser377=) | dbSNP |
| MT | m.13468C>A | CA414818123 | MT-ND5 | c.1132C>A (p.Leu378Ile) | ClinVar dbSNP |
| MT | m.13468C= | CA2499568014 | MT-ND5 | c.1132C= (p.Leu378=) | |
| MT | m.13468C>G | CA337099695 | MT-ND5 | c.1132C>G (p.Leu378Val) | dbSNP |
| MT | m.13468C>T | CA337099697 | MT-ND5 | c.1132C>T (p.Leu378=) | |
| MT | m.13469T>A | CA414818127 | MT-ND5 | c.1133T>A (p.Leu378Gln) | |
| MT | m.13469T>C | CA414818128 | MT-ND5 | c.1133T>C (p.Leu378Pro) | |
| MT | m.13469T>G | CA414818130 | MT-ND5 | c.1133T>G (p.Leu378Arg) | |
| MT | m.13469T= | CA2573324468 | MT-ND5 | c.1133T= (p.Leu378=) | |
| MT | m.13470A= | CA2499568015 | MT-ND5 | c.1134A= (p.Leu378=) | |
| MT | m.13470A>C | CA913170991 | MT-ND5 | c.1134A>C (p.Leu378=) | |
| MT | m.13470A>G | CA337099699 | MT-ND5 | c.1134A>G (p.Leu378=) | dbSNP |
| MT | m.13470A>T | CA913170990 | MT-ND5 | c.1134A>T (p.Leu378=) | |
| MT | m.13471G>A | CA414818135 | MT-ND5 | c.1135G>A (p.Ala379Thr) | ClinVar dbSNP |
| MT | m.13471G>C | CA414818137 | MT-ND5 | c.1135G>C (p.Ala379Pro) | |
| MT | m.13471G= | CA2499568016 | MT-ND5 | c.1135G= (p.Ala379=) | |
| MT | m.13471G>T | CA414818138 | MT-ND5 | c.1135G>T (p.Ala379Ser) | |
| MT | m.13472C>A | CA414818142 | MT-ND5 | c.1136C>A (p.Ala379Glu) | |
| MT | m.13472C= | CA2573324479 | MT-ND5 | c.1136C= (p.Ala379=) | |
| MT | m.13472C>G | CA414818143 | MT-ND5 | c.1136C>G (p.Ala379Gly) | |
| MT | m.13472C>T | CA414818140 | MT-ND5 | c.1136C>T (p.Ala379Val) | |
| MT | m.13472_13473insCTGTCATG | CA2740098393 | MT-ND5 | c.1136_1137insCTGTCATG (p.Leu380CysfsTer4) | |
| MT | m.13473A= | CA2499568017 | MT-ND5 | c.1137A= (p.Ala379=) | |
| MT | m.13473A>C | CA913170992 | MT-ND5 | c.1137A>C (p.Ala379=) | |
| MT | m.13473A>G | CA913170993 | MT-ND5 | c.1137A>G (p.Ala379=) | dbSNP |
| MT | m.13473A>T | CA913170994 | MT-ND5 | c.1137A>T (p.Ala379=) | |
| MT | m.13474T>A | CA414818146 | MT-ND5 | c.1138T>A (p.Leu380Ile) | |
| MT | m.13474T>C | CA337099700 | MT-ND5 | c.1138T>C (p.Leu380=) | dbSNP |
| MT | m.13474T>G | CA414818148 | MT-ND5 | c.1138T>G (p.Leu380Val) | |
| MT | m.13474T= | CA2499568018 | MT-ND5 | c.1138T= (p.Leu380=) | |
| MT | m.13475T>A | CA414818151 | MT-ND5 | c.1139T>A (p.Leu380Ter) | |
| MT | m.13475T>C | CA414818153 | MT-ND5 | c.1139T>C (p.Leu380Ser) | |
| MT | m.13475T>G | CA414818154 | MT-ND5 | c.1139T>G (p.Leu380Ter) | |
| MT | m.13475T= | CA2573324488 | MT-ND5 | c.1139T= (p.Leu380=) | |
| MT | m.13476A= | CA2513109847 | MT-ND5 | c.1140A= (p.Leu380=) | |
| MT | m.13476A>C | CA414818157 | MT-ND5 | c.1140A>C (p.Leu380Phe) | |
| MT | m.13476A>G | CA913170995 | MT-ND5 | c.1140A>G (p.Leu380=) | |
| MT | m.13476A>T | CA414818158 | MT-ND5 | c.1140A>T (p.Leu380Phe) | |
| MT | m.13477G>A | CA337099702 | MT-ND5 | c.1141G>A (p.Ala381Thr) | ClinVar dbSNP |
| MT | m.13477G>C | CA414818162 | MT-ND5 | c.1141G>C (p.Ala381Pro) | |
| MT | m.13477G= | CA2499568019 | MT-ND5 | c.1141G= (p.Ala381=) | |
| MT | m.13477G>T | CA414818164 | MT-ND5 | c.1141G>T (p.Ala381Ser) | |
| MT | m.13478C>A | CA414818169 | MT-ND5 | c.1142C>A (p.Ala381Glu) | |
| MT | m.13478C= | CA2499568020 | MT-ND5 | c.1142C= (p.Ala381=) | |
| MT | m.13478C>G | CA414818166 | MT-ND5 | c.1142C>G (p.Ala381Gly) | |
| MT | m.13478C>T | CA414818168 | MT-ND5 | c.1142C>T (p.Ala381Val) | ClinVar dbSNP |
| MT | m.13479A= | CA2573324500 | MT-ND5 | c.1143A= (p.Ala381=) | |
| MT | m.13479A>C | CA913170996 | MT-ND5 | c.1143A>C (p.Ala381=) | |
| MT | m.13479A>G | CA913170997 | MT-ND5 | c.1143A>G (p.Ala381=) | |
| MT | m.13479A>T | CA913170998 | MT-ND5 | c.1143A>T (p.Ala381=) | |
| MT | m.13480G>A | CA414818172 | MT-ND5 | c.1144G>A (p.Gly382Arg) | |
| MT | m.13480G>C | CA414818173 | MT-ND5 | c.1144G>C (p.Gly382Arg) | |
| MT | m.13480G= | CA2573324504 | MT-ND5 | c.1144G= (p.Gly382=) | |
| MT | m.13480G>T | CA414818174 | MT-ND5 | c.1144G>T (p.Gly382Ter) | |
| MT | m.13481G>A | CA414818175 | MT-ND5 | c.1145G>A (p.Gly382Glu) | |
| MT | m.13481G>C | CA414818177 | MT-ND5 | c.1145G>C (p.Gly382Ala) | |
| MT | m.13481G= | CA2573324508 | MT-ND5 | c.1145G= (p.Gly382=) | |
| MT | m.13481G>T | CA414818179 | MT-ND5 | c.1145G>T (p.Gly382Val) | |
| MT | m.13482A= | CA2499568021 | MT-ND5 | c.1146A= (p.Gly382=) | |
| MT | m.13482A>C | CA913170999 | MT-ND5 | c.1146A>C (p.Gly382=) | |
| MT | m.13482A>G | CA913171000 | MT-ND5 | c.1146A>G (p.Gly382=) | dbSNP |
| MT | m.13482A>T | CA913171001 | MT-ND5 | c.1146A>T (p.Gly382=) | |
| MT | m.13483A= | CA2573324530 | MT-ND5 | c.1147A= (p.Ile383=) | |
| MT | m.13483A>C | CA414818182 | MT-ND5 | c.1147A>C (p.Ile383Leu) | |
| MT | m.13483A>G | CA414818183 | MT-ND5 | c.1147A>G (p.Ile383Val) | |
| MT | m.13483A>T | CA414818185 | MT-ND5 | c.1147A>T (p.Ile383Leu) | |
| MT | m.13484T>A | CA414818188 | MT-ND5 | c.1148T>A (p.Ile383Lys) | |
| MT | m.13484T>C | CA414818189 | MT-ND5 | c.1148T>C (p.Ile383Thr) | ClinVar dbSNP |
| MT | m.13484T>G | CA414818190 | MT-ND5 | c.1148T>G (p.Ile383Arg) | |
| MT | m.13484T= | CA2499568022 | MT-ND5 | c.1148T= (p.Ile383=) | |
| MT | m.13485A= | CA2499568023 | MT-ND5 | c.1149A= (p.Ile383=) | |
| MT | m.13485A>C | CA337099704 | MT-ND5 | c.1149A>C (p.Ile383=) | |
| MT | m.13485A>G | CA10581355 | MT-ND5 | c.1149A>G (p.Ile383Met) | ClinVar dbSNP |
| MT | m.13485A>T | CA337099707 | MT-ND5 | c.1149A>T (p.Ile383=) | |
| MT | m.13486C>A | CA414818198 | MT-ND5 | c.1150C>A (p.Pro384Thr) | |
| MT | m.13486C= | CA2573324549 | MT-ND5 | c.1150C= (p.Pro384=) | |
| MT | m.13486C>G | CA414818196 | MT-ND5 | c.1150C>G (p.Pro384Ala) | |
| MT | m.13486C>T | CA414818200 | MT-ND5 | c.1150C>T (p.Pro384Ser) | |
| MT | m.13487C>A | CA414818202 | MT-ND5 | c.1151C>A (p.Pro384His) | |
| MT | m.13487C= | CA2573324550 | MT-ND5 | c.1151C= (p.Pro384=) | |
| MT | m.13487C>G | CA414818203 | MT-ND5 | c.1151C>G (p.Pro384Arg) | |
| MT | m.13487C>T | CA414818206 | MT-ND5 | c.1151C>T (p.Pro384Leu) | |
| MT | m.13488T>A | CA913171003 | MT-ND5 | c.1152T>A (p.Pro384=) | |
| MT | m.13488T>C | CA10581327 | MT-ND5 | c.1152T>C (p.Pro384=) | ClinVar dbSNP |
| MT | m.13488T>G | CA913171002 | MT-ND5 | c.1152T>G (p.Pro384=) | |
| MT | m.13488T= | CA2499568024 | MT-ND5 | c.1152T= (p.Pro384=) | |
| MT | m.13490del | CA2573105287 | MT-ND5 | c.1154del (p.Phe385SerfsTer?) | |
| MT | m.13489T>A | CA414818209 | MT-ND5 | c.1153T>A (p.Phe385Ile) | |
| MT | m.13489T>C | CA414818211 | MT-ND5 | c.1153T>C (p.Phe385Leu) | |
| MT | m.13489T>G | CA414818213 | MT-ND5 | c.1153T>G (p.Phe385Val) | |
| MT | m.13489T= | CA2573324558 | MT-ND5 | c.1153T= (p.Phe385=) | |
| MT | m.13490T>A | CA414818215 | MT-ND5 | c.1154T>A (p.Phe385Tyr) | |
| MT | m.13490T>C | CA414818217 | MT-ND5 | c.1154T>C (p.Phe385Ser) | |
| MT | m.13490T>G | CA414818218 | MT-ND5 | c.1154T>G (p.Phe385Cys) | |
| MT | m.13490T= | CA2573324562 | MT-ND5 | c.1154T= (p.Phe385=) | |
| MT | m.13491C>A | CA414818221 | MT-ND5 | c.1155C>A (p.Phe385Leu) | |
| MT | m.13491C= | CA2573324565 | MT-ND5 | c.1155C= (p.Phe385=) | |
| MT | m.13491C>G | CA414818223 | MT-ND5 | c.1155C>G (p.Phe385Leu) | |
| MT | m.13491C>T | CA913171004 | MT-ND5 | c.1155C>T (p.Phe385=) | |
| MT | m.13492C>A | CA414818226 | MT-ND5 | c.1156C>A (p.Leu386Ile) | |
| MT | m.13492C= | CA2499568025 | MT-ND5 | c.1156C= (p.Leu386=) | |
| MT | m.13492C>G | CA337099709 | MT-ND5 | c.1156C>G (p.Leu386Val) | dbSNP |
| MT | m.13492C>T | CA414818227 | MT-ND5 | c.1156C>T (p.Leu386Phe) | |
| MT | m.13493T>A | CA414818231 | MT-ND5 | c.1157T>A (p.Leu386His) | |
| MT | m.13493T>C | CA414818232 | MT-ND5 | c.1157T>C (p.Leu386Pro) | |
| MT | m.13493T>G | CA414818234 | MT-ND5 | c.1157T>G (p.Leu386Arg) | |
| MT | m.13493T= | CA2573324572 | MT-ND5 | c.1157T= (p.Leu386=) | |
| MT | m.13494C>A | CA913171005 | MT-ND5 | c.1158C>A (p.Leu386=) | |
| MT | m.13494C= | CA2499568026 | MT-ND5 | c.1158C= (p.Leu386=) | |
| MT | m.13494C>G | CA913171006 | MT-ND5 | c.1158C>G (p.Leu386=) | |
| MT | m.13494C>T | CA913171007 | MT-ND5 | c.1158C>T (p.Leu386=) | dbSNP |
| MT | m.13495A= | CA2499568027 | MT-ND5 | c.1159A= (p.Thr387=) | |
| MT | m.13495A>C | CA414818237 | MT-ND5 | c.1159A>C (p.Thr387Pro) | |
| MT | m.13495A>G | CA414818239 | MT-ND5 | c.1159A>G (p.Thr387Ala) | ClinVar dbSNP |
| MT | m.13495A>T | CA414818240 | MT-ND5 | c.1159A>T (p.Thr387Ser) | |
| MT | m.13496C>A | CA414818242 | MT-ND5 | c.1160C>A (p.Thr387Lys) | |
| MT | m.13496C= | CA2573324582 | MT-ND5 | c.1160C= (p.Thr387=) | |
| MT | m.13496C>G | CA414818243 | MT-ND5 | c.1160C>G (p.Thr387Arg) | |
| MT | m.13496C>T | CA414818244 | MT-ND5 | c.1160C>T (p.Thr387Ile) | |
| MT | m.13497A= | CA2499568028 | MT-ND5 | c.1161A= (p.Thr387=) | |
| MT | m.13497A>C | CA913171008 | MT-ND5 | c.1161A>C (p.Thr387=) | |
| MT | m.13497A>G | CA913171009 | MT-ND5 | c.1161A>G (p.Thr387=) | dbSNP |
| MT | m.13497A>T | CA913171010 | MT-ND5 | c.1161A>T (p.Thr387=) | |
| MT | m.13498G>A | CA414818249 | MT-ND5 | c.1162G>A (p.Gly388Ser) | dbSNP |
| MT | m.13498G>C | CA414818251 | MT-ND5 | c.1162G>C (p.Gly388Arg) | |
| MT | m.13498G= | CA2499568029 | MT-ND5 | c.1162G= (p.Gly388=) | |
| MT | m.13498G>T | CA414818247 | MT-ND5 | c.1162G>T (p.Gly388Cys) | |
| MT | m.13499G>A | CA414818253 | MT-ND5 | c.1163G>A (p.Gly388Asp) | COSMIC |
| MT | m.13499G>C | CA414818255 | MT-ND5 | c.1163G>C (p.Gly388Ala) | |
| MT | m.13499G= | CA2573324589 | MT-ND5 | c.1163G= (p.Gly388=) | |
| MT | m.13499G>T | CA414818257 | MT-ND5 | c.1163G>T (p.Gly388Val) | |
| MT | m.13500T>A | CA913171011 | MT-ND5 | c.1164T>A (p.Gly388=) | |
| MT | m.13500T>C | CA337099711 | MT-ND5 | c.1164T>C (p.Gly388=) | dbSNP |
| MT | m.13500T>G | CA913171012 | MT-ND5 | c.1164T>G (p.Gly388=) | |
| MT | m.13500T= | CA2499568030 | MT-ND5 | c.1164T= (p.Gly388=) | |
| MT | m.13501T>A | CA414818261 | MT-ND5 | c.1165T>A (p.Phe389Ile) | |
| MT | m.13501T>C | CA414818263 | MT-ND5 | c.1165T>C (p.Phe389Leu) | |
| MT | m.13501T>G | CA414818264 | MT-ND5 | c.1165T>G (p.Phe389Val) | |
| MT | m.13501T= | CA2573324590 | MT-ND5 | c.1165T= (p.Phe389=) | |
| MT | m.13502T>A | CA414818267 | MT-ND5 | c.1166T>A (p.Phe389Tyr) | |
| MT | m.13502T>C | CA414818269 | MT-ND5 | c.1166T>C (p.Phe389Ser) | |
| MT | m.13502T>G | CA414818271 | MT-ND5 | c.1166T>G (p.Phe389Cys) | |
| MT | m.13502T= | CA2573324591 | MT-ND5 | c.1166T= (p.Phe389=) | |
| MT | m.13503C>A | CA414818272 | MT-ND5 | c.1167C>A (p.Phe389Leu) | |
| MT | m.13503C= | CA2573324592 | MT-ND5 | c.1167C= (p.Phe389=) | |
| MT | m.13503C>G | CA414818274 | MT-ND5 | c.1167C>G (p.Phe389Leu) | |
| MT | m.13503C>T | CA913171013 | MT-ND5 | c.1167C>T (p.Phe389=) | |
| MT | m.13504T>A | CA414818280 | MT-ND5 | c.1168T>A (p.Tyr390Asn) | |
| MT | m.13504T>C | CA414818276 | MT-ND5 | c.1168T>C (p.Tyr390His) | |
| MT | m.13504T>G | CA414818278 | MT-ND5 | c.1168T>G (p.Tyr390Asp) | |
| MT | m.13504T= | CA2573324593 | MT-ND5 | c.1168T= (p.Tyr390=) | |
| MT | m.13505A= | CA2573324594 | MT-ND5 | c.1169A= (p.Tyr390=) | |
| MT | m.13505A>C | CA414818282 | MT-ND5 | c.1169A>C (p.Tyr390Ser) | |
| MT | m.13505A>G | CA414818284 | MT-ND5 | c.1169A>G (p.Tyr390Cys) | |
| MT | m.13505A>T | CA414818286 | MT-ND5 | c.1169A>T (p.Tyr390Phe) | |
| MT | m.13506C>A | CA414818288 | MT-ND5 | c.1170C>A (p.Tyr390Ter) | |
| MT | m.13506C= | CA2499568031 | MT-ND5 | c.1170C= (p.Tyr390=) | |
| MT | m.13506C>G | CA414818291 | MT-ND5 | c.1170C>G (p.Tyr390Ter) | |
| MT | m.13506C>T | CA337099713 | MT-ND5 | c.1170C>T (p.Tyr390=) | dbSNP |
| MT | m.13507T>A | CA414818294 | MT-ND5 | c.1171T>A (p.Ser391Thr) | |
| MT | m.13507T>C | CA414818296 | MT-ND5 | c.1171T>C (p.Ser391Pro) | ClinVar dbSNP |
| MT | m.13507T>G | CA414818297 | MT-ND5 | c.1171T>G (p.Ser391Ala) | |
| MT | m.13507T= | CA2499568032 | MT-ND5 | c.1171T= (p.Ser391=) | |
| MT | m.13508C>A | CA414818300 | MT-ND5 | c.1172C>A (p.Ser391Tyr) | |
| MT | m.13508C= | CA2573324602 | MT-ND5 | c.1172C= (p.Ser391=) | |
| MT | m.13508C>G | CA414818301 | MT-ND5 | c.1172C>G (p.Ser391Cys) | |
| MT | m.13508C>T | CA414818303 | MT-ND5 | c.1172C>T (p.Ser391Phe) | |
| MT | m.13509C>A | CA913171015 | MT-ND5 | c.1173C>A (p.Ser391=) | |
| MT | m.13509C= | CA2573324606 | MT-ND5 | c.1173C= (p.Ser391=) | |
| MT | m.13509C>G | CA913171016 | MT-ND5 | c.1173C>G (p.Ser391=) | |
| MT | m.13509C>T | CA913171014 | MT-ND5 | c.1173C>T (p.Ser391=) | dbSNP |
| MT | m.13510A= | CA2573324608 | MT-ND5 | c.1174A= (p.Lys392=) | |
| MT | m.13510A>C | CA414818307 | MT-ND5 | c.1174A>C (p.Lys392Gln) | |
| MT | m.13510A>G | CA414818309 | MT-ND5 | c.1174A>G (p.Lys392Glu) | |
| MT | m.13510A>T | CA414818306 | MT-ND5 | c.1174A>T (p.Lys392Ter) | |
| MT | m.13511A= | CA2573324611 | MT-ND5 | c.1175A= (p.Lys392=) | |
| MT | m.13511A>C | CA414818312 | MT-ND5 | c.1175A>C (p.Lys392Thr) | |
| MT | m.13511A>G | CA414818316 | MT-ND5 | c.1175A>G (p.Lys392Arg) | |
| MT | m.13511A>T | CA414818314 | MT-ND5 | c.1175A>T (p.Lys392Ile) | |
| MT | m.13512A= | CA2499568033 | MT-ND5 | c.1176A= (p.Lys392=) | |
| MT | m.13512A>C | CA414818318 | MT-ND5 | c.1176A>C (p.Lys392Asn) | |
| MT | m.13512A>G | CA337099714 | MT-ND5 | c.1176A>G (p.Lys392=) | dbSNP |
| MT | m.13512A>T | CA414818319 | MT-ND5 | c.1176A>T (p.Lys392Asn) | |
| MT | m.13513G>A | CA120632 | MT-ND5 | c.1177G>A (p.Asp393Asn) | ClinVar dbSNP |
| MT | m.13513G>C | CA414818324 | MT-ND5 | c.1177G>C (p.Asp393His) | dbSNP |
| MT | m.13513G= | CA2499568034 | MT-ND5 | c.1177G= (p.Asp393=) | |
| MT | m.13513G>T | CA414818326 | MT-ND5 | c.1177G>T (p.Asp393Tyr) | |
| MT | m.13514A= | CA2499568035 | MT-ND5 | c.1178A= (p.Asp393=) | |
| MT | m.13514A>C | CA414818329 | MT-ND5 | c.1178A>C (p.Asp393Ala) | |
| MT | m.13514A>G | CA345918 | MT-ND5 | c.1178A>G (p.Asp393Gly) | ClinVar dbSNP |
| MT | m.13514A>T | CA414818331 | MT-ND5 | c.1178A>T (p.Asp393Val) |