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.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7037C>A | CA414790823 | MT-CO1 | c.1134C>A (p.His378Gln) | |
| MT | m.7037C= | CA2573326540 | MT-CO1 | c.1134C= (p.His378=) | |
| MT | m.7037C>G | CA414790825 | MT-CO1 | c.1134C>G (p.His378Gln) | |
| MT | m.7037C>T | CA913182166 | MT-CO1 | c.1134C>T (p.His378=) | |
| MT | m.7038T>A | CA414790829 | MT-CO1 | c.1135T>A (p.Tyr379Asn) | |
| MT | m.7038T>C | CA414790832 | MT-CO1 | c.1135T>C (p.Tyr379His) | |
| MT | m.7038T>G | CA414790835 | MT-CO1 | c.1135T>G (p.Tyr379Asp) | |
| MT | m.7038T= | CA2573326543 | MT-CO1 | c.1135T= (p.Tyr379=) | |
| MT | m.7039A= | CA2573326544 | MT-CO1 | c.1136A= (p.Tyr379=) | |
| MT | m.7039A>C | CA414790837 | MT-CO1 | c.1136A>C (p.Tyr379Ser) | |
| MT | m.7039A>G | CA414790840 | MT-CO1 | c.1136A>G (p.Tyr379Cys) | |
| MT | m.7039A>T | CA414790843 | MT-CO1 | c.1136A>T (p.Tyr379Phe) | |
| MT | m.7040T>A | CA414790846 | MT-CO1 | c.1137T>A (p.Tyr379Ter) | |
| MT | m.7040T>C | CA913182169 | MT-CO1 | c.1137T>C (p.Tyr379=) | |
| MT | m.7040T>G | CA414790847 | MT-CO1 | c.1137T>G (p.Tyr379Ter) | |
| MT | m.7040T= | CA2573326547 | MT-CO1 | c.1137T= (p.Tyr379=) | |
| MT | m.7041G>A | CA414790851 | MT-CO1 | c.1138G>A (p.Val380Ile) | ClinVar dbSNP |
| MT | m.7041G>C | CA414790856 | MT-CO1 | c.1138G>C (p.Val380Leu) | |
| MT | m.7041G= | CA2499564997 | MT-CO1 | c.1138G= (p.Val380=) | |
| MT | m.7041G>T | CA414790854 | MT-CO1 | c.1138G>T (p.Val380Phe) | |
| MT | m.7042T>A | CA414790860 | MT-CO1 | c.1139T>A (p.Val380Asp) | |
| MT | m.7042T>C | CA414790865 | MT-CO1 | c.1139T>C (p.Val380Ala) | COSMIC COSMIC |
| MT | m.7042T>G | CA414790863 | MT-CO1 | c.1139T>G (p.Val380Gly) | |
| MT | m.7042T= | CA2573326555 | MT-CO1 | c.1139T= (p.Val380=) | |
| MT | m.7043C>A | CA913182175 | MT-CO1 | c.1140C>A (p.Val380=) | dbSNP |
| MT | m.7043C= | CA2499564998 | MT-CO1 | c.1140C= (p.Val380=) | |
| MT | m.7043C>G | CA913182174 | MT-CO1 | c.1140C>G (p.Val380=) | |
| MT | m.7043C>T | CA913182172 | MT-CO1 | c.1140C>T (p.Val380=) | dbSNP |
| MT | m.7044C>A | CA414790868 | MT-CO1 | c.1141C>A (p.Leu381Ile) | |
| MT | m.7044C= | CA2499564999 | MT-CO1 | c.1141C= (p.Leu381=) | |
| MT | m.7044C>G | CA414790869 | MT-CO1 | c.1141C>G (p.Leu381Val) | |
| MT | m.7044C>T | CA913182177 | MT-CO1 | c.1141C>T (p.Leu381=) | dbSNP |
| MT | m.7045T>A | CA414790873 | MT-CO1 | c.1142T>A (p.Leu381Gln) | |
| MT | m.7045T>C | CA414790876 | MT-CO1 | c.1142T>C (p.Leu381Pro) | |
| MT | m.7045T>G | CA414790878 | MT-CO1 | c.1142T>G (p.Leu381Arg) | |
| MT | m.7045T= | CA2573326560 | MT-CO1 | c.1142T= (p.Leu381=) | |
| MT | m.7046A= | CA2499565000 | MT-CO1 | c.1143A= (p.Leu381=) | |
| MT | m.7046A>C | CA913182182 | MT-CO1 | c.1143A>C (p.Leu381=) | |
| MT | m.7046A>G | CA913182183 | MT-CO1 | c.1143A>G (p.Leu381=) | dbSNP |
| MT | m.7046A>T | CA913182181 | MT-CO1 | c.1143A>T (p.Leu381=) | |
| MT | m.7047T>A | CA414790881 | MT-CO1 | c.1144T>A (p.Ser382Thr) | |
| MT | m.7047T>C | CA414790883 | MT-CO1 | c.1144T>C (p.Ser382Pro) | |
| MT | m.7047T>G | CA414790886 | MT-CO1 | c.1144T>G (p.Ser382Ala) | |
| MT | m.7047T= | CA2573326563 | MT-CO1 | c.1144T= (p.Ser382=) | |
| MT | m.7048C>A | CA414790889 | MT-CO1 | c.1145C>A (p.Ser382Ter) | |
| MT | m.7048C= | CA2573326564 | MT-CO1 | c.1145C= (p.Ser382=) | |
| MT | m.7048C>G | CA414790891 | MT-CO1 | c.1145C>G (p.Ser382Ter) | |
| MT | m.7048C>T | CA414790894 | MT-CO1 | c.1145C>T (p.Ser382Leu) | |
| MT | m.7049A= | CA2499565001 | MT-CO1 | c.1146A= (p.Ser382=) | |
| MT | m.7049A>C | CA913182186 | MT-CO1 | c.1146A>C (p.Ser382=) | |
| MT | m.7049A>G | CA913182185 | MT-CO1 | c.1146A>G (p.Ser382=) | dbSNP |
| MT | m.7049A>T | CA913182184 | MT-CO1 | c.1146A>T (p.Ser382=) | |
| MT | m.7050A= | CA2573326570 | MT-CO1 | c.1147A= (p.Ile383=) | |
| MT | m.7050A>C | CA414790902 | MT-CO1 | c.1147A>C (p.Ile383Leu) | |
| MT | m.7050A>G | CA414790899 | MT-CO1 | c.1147A>G (p.Ile383Val) | |
| MT | m.7050A>T | CA414790900 | MT-CO1 | c.1147A>T (p.Ile383Leu) | |
| MT | m.7051T>A | CA414790904 | MT-CO1 | c.1148T>A (p.Ile383Lys) | |
| MT | m.7051T>C | CA414790906 | MT-CO1 | c.1148T>C (p.Ile383Thr) | ClinVar dbSNP |
| MT | m.7051T>G | CA414790908 | MT-CO1 | c.1148T>G (p.Ile383Arg) | |
| MT | m.7051T= | CA2499565002 | MT-CO1 | c.1148T= (p.Ile383=) | |
| MT | m.7052A= | CA2499565003 | MT-CO1 | c.1149A= (p.Ile383=) | |
| MT | m.7052A>C | CA913182190 | MT-CO1 | c.1149A>C (p.Ile383=) | |
| MT | m.7052A>G | CA414790911 | MT-CO1 | c.1149A>G (p.Ile383Met) | dbSNP |
| MT | m.7052A>T | CA913182189 | MT-CO1 | c.1149A>T (p.Ile383=) | |
| MT | m.7053G>A | CA414790915 | MT-CO1 | c.1150G>A (p.Gly384Arg) | ClinVar dbSNP |
| MT | m.7053G>C | CA414790916 | MT-CO1 | c.1150G>C (p.Gly384Arg) | |
| MT | m.7053G= | CA2499565004 | MT-CO1 | c.1150G= (p.Gly384=) | |
| MT | m.7053G>T | CA414790920 | MT-CO1 | c.1150G>T (p.Gly384Ter) | |
| MT | m.7054G>A | CA414790923 | MT-CO1 | c.1151G>A (p.Gly384Glu) | |
| MT | m.7054G>C | CA414790927 | MT-CO1 | c.1151G>C (p.Gly384Ala) | |
| MT | m.7054G= | CA2512995892 | MT-CO1 | c.1151G= (p.Gly384=) | |
| MT | m.7054G>T | CA414790929 | MT-CO1 | c.1151G>T (p.Gly384Val) | |
| MT | m.7055A= | CA2499565005 | MT-CO1 | c.1152A= (p.Gly384=) | |
| MT | m.7055A>C | CA913182193 | MT-CO1 | c.1152A>C (p.Gly384=) | |
| MT | m.7055A>G | CA337097545 | MT-CO1 | c.1152A>G (p.Gly384=) | dbSNP |
| MT | m.7055A>T | CA913182192 | MT-CO1 | c.1152A>T (p.Gly384=) | |
| MT | m.7056G>A | CA414790939 | MT-CO1 | c.1153G>A (p.Ala385Thr) | dbSNP |
| MT | m.7056G>C | CA414790934 | MT-CO1 | c.1153G>C (p.Ala385Pro) | |
| MT | m.7056G= | CA2499565006 | MT-CO1 | c.1153G= (p.Ala385=) | |
| MT | m.7056G>T | CA414790937 | MT-CO1 | c.1153G>T (p.Ala385Ser) | |
| MT | m.7057C>A | CA414790941 | MT-CO1 | c.1154C>A (p.Ala385Asp) | |
| MT | m.7057C= | CA2573326583 | MT-CO1 | c.1154C= (p.Ala385=) | |
| MT | m.7057C>G | CA414790944 | MT-CO1 | c.1154C>G (p.Ala385Gly) | |
| MT | m.7057C>T | CA414790946 | MT-CO1 | c.1154C>T (p.Ala385Val) | |
| MT | m.7058T>A | CA913182197 | MT-CO1 | c.1155T>A (p.Ala385=) | |
| MT | m.7058T>C | CA913182201 | MT-CO1 | c.1155T>C (p.Ala385=) | dbSNP |
| MT | m.7058T>G | CA913182200 | MT-CO1 | c.1155T>G (p.Ala385=) | |
| MT | m.7058T= | CA2499565007 | MT-CO1 | c.1155T= (p.Ala385=) | |
| MT | m.7059G>A | CA414790949 | MT-CO1 | c.1156G>A (p.Val386Ile) | |
| MT | m.7059G>C | CA414790951 | MT-CO1 | c.1156G>C (p.Val386Leu) | |
| MT | m.7059G= | CA2573326588 | MT-CO1 | c.1156G= (p.Val386=) | |
| MT | m.7059G>T | CA414790955 | MT-CO1 | c.1156G>T (p.Val386Leu) | |
| MT | m.7060T>A | CA414790957 | MT-CO1 | c.1157T>A (p.Val386Glu) | |
| MT | m.7060T>C | CA414790959 | MT-CO1 | c.1157T>C (p.Val386Ala) | |
| MT | m.7060T>G | CA414790962 | MT-CO1 | c.1157T>G (p.Val386Gly) | |
| MT | m.7060T= | CA2573326593 | MT-CO1 | c.1157T= (p.Val386=) | |
| MT | m.7061A= | CA2499565008 | MT-CO1 | c.1158A= (p.Val386=) | |
| MT | m.7061A>C | CA913182207 | MT-CO1 | c.1158A>C (p.Val386=) | |
| MT | m.7061A>G | CA913182206 | MT-CO1 | c.1158A>G (p.Val386=) | dbSNP |
| MT | m.7061A>T | CA913182205 | MT-CO1 | c.1158A>T (p.Val386=) | |
| MT | m.7062T>A | CA414790971 | MT-CO1 | c.1159T>A (p.Phe387Ile) | |
| MT | m.7062T>C | CA414790965 | MT-CO1 | c.1159T>C (p.Phe387Leu) | |
| MT | m.7062T>G | CA414790968 | MT-CO1 | c.1159T>G (p.Phe387Val) | |
| MT | m.7062T= | CA2573326597 | MT-CO1 | c.1159T= (p.Phe387=) | |
| MT | m.7063T>A | CA414790979 | MT-CO1 | c.1160T>A (p.Phe387Tyr) | |
| MT | m.7063T>C | CA414790982 | MT-CO1 | c.1160T>C (p.Phe387Ser) | |
| MT | m.7063T>G | CA414790986 | MT-CO1 | c.1160T>G (p.Phe387Cys) | |
| MT | m.7063T= | CA2573326599 | MT-CO1 | c.1160T= (p.Phe387=) | |
| MT | m.7064T>A | CA414790989 | MT-CO1 | c.1161T>A (p.Phe387Leu) | |
| MT | m.7064T>C | CA913182208 | MT-CO1 | c.1161T>C (p.Phe387=) | dbSNP |
| MT | m.7064T>G | CA414790992 | MT-CO1 | c.1161T>G (p.Phe387Leu) | |
| MT | m.7064T= | CA2499565009 | MT-CO1 | c.1161T= (p.Phe387=) | |
| MT | m.7065G>A | CA414790994 | MT-CO1 | c.1162G>A (p.Ala388Thr) | |
| MT | m.7065G>C | CA414790996 | MT-CO1 | c.1162G>C (p.Ala388Pro) | |
| MT | m.7065G= | CA2573326602 | MT-CO1 | c.1162G= (p.Ala388=) | |
| MT | m.7065G>T | CA414790999 | MT-CO1 | c.1162G>T (p.Ala388Ser) | |
| MT | m.7066C>A | CA414791002 | MT-CO1 | c.1163C>A (p.Ala388Asp) | |
| MT | m.7066C= | CA2573326604 | MT-CO1 | c.1163C= (p.Ala388=) | |
| MT | m.7066C>G | CA414791005 | MT-CO1 | c.1163C>G (p.Ala388Gly) | |
| MT | m.7066C>T | CA414791007 | MT-CO1 | c.1163C>T (p.Ala388Val) | |
| MT | m.7067C>A | CA913182212 | MT-CO1 | c.1164C>A (p.Ala388=) | |
| MT | m.7067C= | CA2573326605 | MT-CO1 | c.1164C= (p.Ala388=) | |
| MT | m.7067C>G | CA913182214 | MT-CO1 | c.1164C>G (p.Ala388=) | |
| MT | m.7067C>T | CA913182213 | MT-CO1 | c.1164C>T (p.Ala388=) | dbSNP |
| MT | m.7068A= | CA2573326606 | MT-CO1 | c.1165A= (p.Ile389=) | |
| MT | m.7068A>C | CA414791013 | MT-CO1 | c.1165A>C (p.Ile389Leu) | |
| MT | m.7068A>G | CA414791016 | MT-CO1 | c.1165A>G (p.Ile389Val) | |
| MT | m.7068A>T | CA414791010 | MT-CO1 | c.1165A>T (p.Ile389Phe) | |
| MT | m.7069T>A | CA414791022 | MT-CO1 | c.1166T>A (p.Ile389Asn) | |
| MT | m.7069T>C | CA414791020 | MT-CO1 | c.1166T>C (p.Ile389Thr) | dbSNP |
| MT | m.7069T>G | CA414791025 | MT-CO1 | c.1166T>G (p.Ile389Ser) | |
| MT | m.7069T= | CA2499565010 | MT-CO1 | c.1166T= (p.Ile389=) | |
| MT | m.7070C>A | CA913182216 | MT-CO1 | c.1167C>A (p.Ile389=) | |
| MT | m.7070C= | CA2573326608 | MT-CO1 | c.1167C= (p.Ile389=) | |
| MT | m.7070C>G | CA414791029 | MT-CO1 | c.1167C>G (p.Ile389Met) | |
| MT | m.7070C>T | CA913182217 | MT-CO1 | c.1167C>T (p.Ile389=) | |
| MT | m.7071A= | CA2573326610 | MT-CO1 | c.1168A= (p.Ile390=) | |
| MT | m.7071A>C | CA414791030 | MT-CO1 | c.1168A>C (p.Ile390Leu) | |
| MT | m.7071A>G | CA414791034 | MT-CO1 | c.1168A>G (p.Ile390Val) | |
| MT | m.7071A>T | CA414791037 | MT-CO1 | c.1168A>T (p.Ile390Leu) | |
| MT | m.7072T>A | CA414791040 | MT-CO1 | c.1169T>A (p.Ile390Lys) | |
| MT | m.7072T>C | CA414791042 | MT-CO1 | c.1169T>C (p.Ile390Thr) | dbSNP COSMIC COSMIC |
| MT | m.7072T>G | CA414791044 | MT-CO1 | c.1169T>G (p.Ile390Arg) | |
| MT | m.7072T= | CA2499565011 | MT-CO1 | c.1169T= (p.Ile390=) | |
| MT | m.7073A= | CA2499565012 | MT-CO1 | c.1170A= (p.Ile390=) | |
| MT | m.7073A>C | CA913182219 | MT-CO1 | c.1170A>C (p.Ile390=) | |
| MT | m.7073A>G | CA414791048 | MT-CO1 | c.1170A>G (p.Ile390Met) | dbSNP |
| MT | m.7073A>T | CA913182218 | MT-CO1 | c.1170A>T (p.Ile390=) | |
| MT | m.7074G>A | CA414791051 | MT-CO1 | c.1171G>A (p.Gly391Arg) | |
| MT | m.7074G>C | CA414791053 | MT-CO1 | c.1171G>C (p.Gly391Arg) | |
| MT | m.7074G= | CA2573326617 | MT-CO1 | c.1171G= (p.Gly391=) | |
| MT | m.7074G>T | CA414791054 | MT-CO1 | c.1171G>T (p.Gly391Ter) | |
| MT | m.7075G>A | CA414791064 | MT-CO1 | c.1172G>A (p.Gly391Glu) | dbSNP |
| MT | m.7075G>C | CA414791062 | MT-CO1 | c.1172G>C (p.Gly391Ala) | |
| MT | m.7075G= | CA2499565013 | MT-CO1 | c.1172G= (p.Gly391=) | |
| MT | m.7075G>T | CA414791060 | MT-CO1 | c.1172G>T (p.Gly391Val) | |
| MT | m.7076A= | CA2499565014 | MT-CO1 | c.1173A= (p.Gly391=) | |
| MT | m.7076A>C | CA913182224 | MT-CO1 | c.1173A>C (p.Gly391=) | |
| MT | m.7076A>G | CA337097547 | MT-CO1 | c.1173A>G (p.Gly391=) | dbSNP |
| MT | m.7076A>T | CA913182223 | MT-CO1 | c.1173A>T (p.Gly391=) | |
| MT | m.7077G>A | CA414791071 | MT-CO1 | c.1174G>A (p.Gly392Ser) | ClinVar dbSNP |
| MT | m.7077G>C | CA414791073 | MT-CO1 | c.1174G>C (p.Gly392Arg) | |
| MT | m.7077G= | CA2499565015 | MT-CO1 | c.1174G= (p.Gly392=) | |
| MT | m.7077G>T | CA414791076 | MT-CO1 | c.1174G>T (p.Gly392Cys) | |
| MT | m.7078G>A | CA414791080 | MT-CO1 | c.1175G>A (p.Gly392Asp) | COSMIC COSMIC |
| MT | m.7078G>C | CA414791082 | MT-CO1 | c.1175G>C (p.Gly392Ala) | |
| MT | m.7078G= | CA2573326628 | MT-CO1 | c.1175G= (p.Gly392=) | |
| MT | m.7078G>T | CA414791084 | MT-CO1 | c.1175G>T (p.Gly392Val) | |
| MT | m.7079C>A | CA913182227 | MT-CO1 | c.1176C>A (p.Gly392=) | |
| MT | m.7079C= | CA2499565016 | MT-CO1 | c.1176C= (p.Gly392=) | |
| MT | m.7079C>G | CA913182228 | MT-CO1 | c.1176C>G (p.Gly392=) | |
| MT | m.7079C>T | CA913182229 | MT-CO1 | c.1176C>T (p.Gly392=) | dbSNP |
| MT | m.7080T>A | CA414791089 | MT-CO1 | c.1177T>A (p.Phe393Ile) | |
| MT | m.7080T>C | CA414791094 | MT-CO1 | c.1177T>C (p.Phe393Leu) | ClinVar dbSNP |
| MT | m.7080T>G | CA414791096 | MT-CO1 | c.1177T>G (p.Phe393Val) | |
| MT | m.7080T= | CA2499565017 | MT-CO1 | c.1177T= (p.Phe393=) | |
| MT | m.7081T>A | CA414791100 | MT-CO1 | c.1178T>A (p.Phe393Tyr) | |
| MT | m.7081T>C | CA414791102 | MT-CO1 | c.1178T>C (p.Phe393Ser) | |
| MT | m.7081T>G | CA414791104 | MT-CO1 | c.1178T>G (p.Phe393Cys) | |
| MT | m.7081T= | CA2573326639 | MT-CO1 | c.1178T= (p.Phe393=) | |
| MT | m.7082C>A | CA414791108 | MT-CO1 | c.1179C>A (p.Phe393Leu) | ClinVar dbSNP |
| MT | m.7082C= | CA2499565018 | MT-CO1 | c.1179C= (p.Phe393=) | |
| MT | m.7082C>G | CA414791110 | MT-CO1 | c.1179C>G (p.Phe393Leu) | |
| MT | m.7082C>T | CA913182231 | MT-CO1 | c.1179C>T (p.Phe393=) | |
| MT | m.7083A= | CA2499565019 | MT-CO1 | c.1180A= (p.Ile394=) | |
| MT | m.7083A>C | CA414791112 | MT-CO1 | c.1180A>C (p.Ile394Leu) | |
| MT | m.7083A>G | CA414791114 | MT-CO1 | c.1180A>G (p.Ile394Val) | ClinVar dbSNP |
| MT | m.7083A>T | CA414791119 | MT-CO1 | c.1180A>T (p.Ile394Phe) | |
| MT | m.7084T>A | CA414791121 | MT-CO1 | c.1181T>A (p.Ile394Asn) | |
| MT | m.7084T>C | CA337097549 | MT-CO1 | c.1181T>C (p.Ile394Thr) | ClinVar dbSNP |
| MT | m.7084T>G | CA414791126 | MT-CO1 | c.1181T>G (p.Ile394Ser) | |
| MT | m.7084T= | CA2499565020 | MT-CO1 | c.1181T= (p.Ile394=) | |
| MT | m.7085T>A | CA913182235 | MT-CO1 | c.1182T>A (p.Ile394=) | |
| MT | m.7085T>C | CA913182236 | MT-CO1 | c.1182T>C (p.Ile394=) | dbSNP |
| MT | m.7085T>G | CA414791129 | MT-CO1 | c.1182T>G (p.Ile394Met) | |
| MT | m.7085T= | CA2499565021 | MT-CO1 | c.1182T= (p.Ile394=) | |
| MT | m.7086C>A | CA414791134 | MT-CO1 | c.1183C>A (p.His395Asn) | |
| MT | m.7086C= | CA2573326650 | MT-CO1 | c.1183C= (p.His395=) | |
| MT | m.7086C>G | CA414791135 | MT-CO1 | c.1183C>G (p.His395Asp) | |
| MT | m.7086C>T | CA414791138 | MT-CO1 | c.1183C>T (p.His395Tyr) | |
| MT | m.7087A= | CA2573326652 | MT-CO1 | c.1184A= (p.His395=) | |
| MT | m.7087A>C | CA414791141 | MT-CO1 | c.1184A>C (p.His395Pro) | |
| MT | m.7087A>G | CA414791144 | MT-CO1 | c.1184A>G (p.His395Arg) | |
| MT | m.7087A>T | CA414791147 | MT-CO1 | c.1184A>T (p.His395Leu) | |
| MT | m.7088C>A | CA414791151 | MT-CO1 | c.1185C>A (p.His395Gln) | |
| MT | m.7088C= | CA2499565022 | MT-CO1 | c.1185C= (p.His395=) | |
| MT | m.7088C>G | CA414791149 | MT-CO1 | c.1185C>G (p.His395Gln) | |
| MT | m.7088C>T | CA913182238 | MT-CO1 | c.1185C>T (p.His395=) | dbSNP |
| MT | m.7089T>A | CA414791156 | MT-CO1 | c.1186T>A (p.Ter396Arg) | |
| MT | m.7089T>C | CA414791158 | MT-CO1 | c.1186T>C (p.Ter396Arg) | |
| MT | m.7089T>G | CA414791161 | MT-CO1 | c.1186T>G (p.Ter396Gly) | |
| MT | m.7089T= | CA414791165 | MT-CO1 | c.1186T= (p.Ter396=) | |
| MT | m.7090G>A | CA414791168 | MT-CO1 | c.1187G>A (p.Ter396=) | |
| MT | m.7090G>C | CA414791171 | MT-CO1 | c.1187G>C (p.Ter396Ser) | |
| MT | m.7090G= | CA414791172 | MT-CO1 | c.1187G= (p.Ter396=) | |
| MT | m.7090G>T | CA414791175 | MT-CO1 | c.1187G>T (p.Ter396Leu) | |
| MT | m.7091A= | CA414791180 | MT-CO1 | c.1188A= (p.Ter396=) | |
| MT | m.7091A>C | CA414791189 | MT-CO1 | c.1188A>C (p.Ter396Cys) | |
| MT | m.7091A>G | CA414791192 | MT-CO1 | c.1188A>G (p.Ter396Trp) | dbSNP |
| MT | m.7091A>T | CA414791195 | MT-CO1 | c.1188A>T (p.Ter396Cys) | |
| MT | m.7092T>A | CA414791202 | MT-CO1 | c.1189T>A (p.Phe397Ile) | |
| MT | m.7092T>C | CA414791198 | MT-CO1 | c.1189T>C (p.Phe397Leu) | ClinVar dbSNP |
| MT | m.7092T>G | CA414791199 | MT-CO1 | c.1189T>G (p.Phe397Val) | |
| MT | m.7092T= | CA2573326662 | MT-CO1 | c.1189T= (p.Phe397=) | |
| MT | m.7094dup | CA2573104837 | MT-CO1 | c.1191dup (p.Pro398SerfsTer?) | |
| MT | m.7093T>A | CA414791205 | MT-CO1 | c.1190T>A (p.Phe397Tyr) | |
| MT | m.7093T>C | CA414791208 | MT-CO1 | c.1190T>C (p.Phe397Ser) | |
| MT | m.7093T>G | CA414791209 | MT-CO1 | c.1190T>G (p.Phe397Cys) | |
| MT | m.7093T= | CA2573326665 | MT-CO1 | c.1190T= (p.Phe397=) | |
| MT | m.7094T>A | CA414791212 | MT-CO1 | c.1191T>A (p.Phe397Leu) | |
| MT | m.7094T>C | CA913182242 | MT-CO1 | c.1191T>C (p.Phe397=) | dbSNP |
| MT | m.7094T>G | CA414791215 | MT-CO1 | c.1191T>G (p.Phe397Leu) | |
| MT | m.7094T= | CA2499565023 | MT-CO1 | c.1191T= (p.Phe397=) | |
| MT | m.7094_7095insTCC | CA2573104838 | MT-CO1 | c.1191_1192insTCC (p.Phe397_Pro398insSer) | |
| MT | m.7095C>A | CA414791218 | MT-CO1 | c.1192C>A (p.Pro398Thr) | |
| MT | m.7095C= | CA2573326669 | MT-CO1 | c.1192C= (p.Pro398=) | |
| MT | m.7095C>G | CA414791221 | MT-CO1 | c.1192C>G (p.Pro398Ala) | |
| MT | m.7095C>T | CA414791223 | MT-CO1 | c.1192C>T (p.Pro398Ser) | |
| MT | m.7096C>A | CA414791225 | MT-CO1 | c.1193C>A (p.Pro398His) | |
| MT | m.7096C= | CA2573326670 | MT-CO1 | c.1193C= (p.Pro398=) | |
| MT | m.7096C>G | CA414791226 | MT-CO1 | c.1193C>G (p.Pro398Arg) | |
| MT | m.7096C>T | CA414791231 | MT-CO1 | c.1193C>T (p.Pro398Leu) | |
| MT | m.7097C>A | CA913182249 | MT-CO1 | c.1194C>A (p.Pro398=) | dbSNP |
| MT | m.7097C= | CA2499565024 | MT-CO1 | c.1194C= (p.Pro398=) | |
| MT | m.7097C>G | CA913182246 | MT-CO1 | c.1194C>G (p.Pro398=) | |
| MT | m.7097C>T | CA913182245 | MT-CO1 | c.1194C>T (p.Pro398=) | |
| MT | m.7098C>A | CA414791233 | MT-CO1 | c.1195C>A (p.Leu399Ile) | |
| MT | m.7098C= | CA2573326673 | MT-CO1 | c.1195C= (p.Leu399=) | |
| MT | m.7098C>G | CA414791234 | MT-CO1 | c.1195C>G (p.Leu399Val) | |
| MT | m.7098C>T | CA913182251 | MT-CO1 | c.1195C>T (p.Leu399=) | |
| MT | m.7099T>A | CA414791238 | MT-CO1 | c.1196T>A (p.Leu399Gln) | |
| MT | m.7099T>C | CA414791235 | MT-CO1 | c.1196T>C (p.Leu399Pro) | |
| MT | m.7099T>G | CA414791237 | MT-CO1 | c.1196T>G (p.Leu399Arg) | |
| MT | m.7099T= | CA2573326677 | MT-CO1 | c.1196T= (p.Leu399=) | |
| MT | m.7099_7111del | CA2573104839 | MT-CO1 | c.1196_1208del (p.Leu399ProfsTer3) | |
| MT | m.7100A= | CA2499565025 | MT-CO1 | c.1197A= (p.Leu399=) | |
| MT | m.7100A>C | CA913182253 | MT-CO1 | c.1197A>C (p.Leu399=) | |
| MT | m.7100A>G | CA913182252 | MT-CO1 | c.1197A>G (p.Leu399=) | dbSNP |
| MT | m.7100A>T | CA913182254 | MT-CO1 | c.1197A>T (p.Leu399=) | |
| MT | m.7101T>A | CA414791242 | MT-CO1 | c.1198T>A (p.Phe400Ile) | |
| MT | m.7101T>C | CA414791244 | MT-CO1 | c.1198T>C (p.Phe400Leu) | |
| MT | m.7101T>G | CA414791249 | MT-CO1 | c.1198T>G (p.Phe400Val) | |
| MT | m.7101T= | CA2573326681 | MT-CO1 | c.1198T= (p.Phe400=) | |
| MT | m.7102T>A | CA414791251 | MT-CO1 | c.1199T>A (p.Phe400Tyr) | |
| MT | m.7102T>C | CA414791254 | MT-CO1 | c.1199T>C (p.Phe400Ser) | |
| MT | m.7102T>G | CA414791256 | MT-CO1 | c.1199T>G (p.Phe400Cys) | |
| MT | m.7102T= | CA2573326684 | MT-CO1 | c.1199T= (p.Phe400=) | |
| MT | m.7103C>A | CA414791260 | MT-CO1 | c.1200C>A (p.Phe400Leu) | |
| MT | m.7103C= | CA2499565026 | MT-CO1 | c.1200C= (p.Phe400=) | |
| MT | m.7103C>G | CA414791264 | MT-CO1 | c.1200C>G (p.Phe400Leu) | |
| MT | m.7103C>T | CA337097551 | MT-CO1 | c.1200C>T (p.Phe400=) | dbSNP |
| MT | m.7104T>A | CA414791268 | MT-CO1 | c.1201T>A (p.Ser401Thr) | |
| MT | m.7104T>C | CA414791271 | MT-CO1 | c.1201T>C (p.Ser401Pro) | |
| MT | m.7104T>G | CA414791274 | MT-CO1 | c.1201T>G (p.Ser401Ala) | |
| MT | m.7104T= | CA2573326688 | MT-CO1 | c.1201T= (p.Ser401=) | |
| MT | m.7105C>A | CA414791276 | MT-CO1 | c.1202C>A (p.Ser401Ter) | |
| MT | m.7105C= | CA2573326690 | MT-CO1 | c.1202C= (p.Ser401=) | |
| MT | m.7105C>G | CA414791281 | MT-CO1 | c.1202C>G (p.Ser401Ter) | |
| MT | m.7105C>T | CA414791278 | MT-CO1 | c.1202C>T (p.Ser401Leu) | |
| MT | m.7106A= | CA2573326692 | MT-CO1 | c.1203A= (p.Ser401=) | |
| MT | m.7106A>C | CA913182260 | MT-CO1 | c.1203A>C (p.Ser401=) | |
| MT | m.7106A>G | CA913182259 | MT-CO1 | c.1203A>G (p.Ser401=) | |
| MT | m.7106A>T | CA913182258 | MT-CO1 | c.1203A>T (p.Ser401=) | |
| MT | m.7107G>A | CA414791284 | MT-CO1 | c.1204G>A (p.Gly402Ser) | |
| MT | m.7107G>C | CA414791286 | MT-CO1 | c.1204G>C (p.Gly402Arg) | |
| MT | m.7107G= | CA2573326694 | MT-CO1 | c.1204G= (p.Gly402=) | |
| MT | m.7107G>T | CA414791289 | MT-CO1 | c.1204G>T (p.Gly402Cys) | |
| MT | m.7108G>A | CA414791292 | MT-CO1 | c.1205G>A (p.Gly402Asp) | COSMIC COSMIC |
| MT | m.7108G>C | CA414791296 | MT-CO1 | c.1205G>C (p.Gly402Ala) | |
| MT | m.7108G= | CA2573326697 | MT-CO1 | c.1205G= (p.Gly402=) | |
| MT | m.7108G>T | CA414791298 | MT-CO1 | c.1205G>T (p.Gly402Val) | |
| MT | m.7109C>A | CA913182264 | MT-CO1 | c.1206C>A (p.Gly402=) | |
| MT | m.7109C= | CA2499565027 | MT-CO1 | c.1206C= (p.Gly402=) | |
| MT | m.7109C>G | CA913182263 | MT-CO1 | c.1206C>G (p.Gly402=) | |
| MT | m.7109C>T | CA913182265 | MT-CO1 | c.1206C>T (p.Gly402=) | dbSNP |
| MT | m.7110T>A | CA414791302 | MT-CO1 | c.1207T>A (p.Tyr403Asn) | |
| MT | m.7110T>C | CA414791303 | MT-CO1 | c.1207T>C (p.Tyr403His) | |
| MT | m.7110T>G | CA414791306 | MT-CO1 | c.1207T>G (p.Tyr403Asp) | |
| MT | m.7110T= | CA2573326699 | MT-CO1 | c.1207T= (p.Tyr403=) | |
| MT | m.7111A= | CA2573326702 | MT-CO1 | c.1208A= (p.Tyr403=) | |
| MT | m.7111A>C | CA414791310 | MT-CO1 | c.1208A>C (p.Tyr403Ser) | |
| MT | m.7111A>G | CA414791312 | MT-CO1 | c.1208A>G (p.Tyr403Cys) | |
| MT | m.7111A>T | CA414791315 | MT-CO1 | c.1208A>T (p.Tyr403Phe) | |
| MT | m.7112C>A | CA414791323 | MT-CO1 | c.1209C>A (p.Tyr403Ter) | |
| MT | m.7112C= | CA2499565028 | MT-CO1 | c.1209C= (p.Tyr403=) | |
| MT | m.7112C>G | CA414791321 | MT-CO1 | c.1209C>G (p.Tyr403Ter) | |
| MT | m.7112C>T | CA913182269 | MT-CO1 | c.1209C>T (p.Tyr403=) | dbSNP |
| MT | m.7113A= | CA2573326706 | MT-CO1 | c.1210A= (p.Thr404=) | |
| MT | m.7113A>C | CA414791326 | MT-CO1 | c.1210A>C (p.Thr404Pro) | |
| MT | m.7113A>G | CA414791327 | MT-CO1 | c.1210A>G (p.Thr404Ala) | |
| MT | m.7113A>T | CA414791328 | MT-CO1 | c.1210A>T (p.Thr404Ser) | |
| MT | m.7114C>A | CA414791329 | MT-CO1 | c.1211C>A (p.Thr404Asn) | |
| MT | m.7114C= | CA2499565029 | MT-CO1 | c.1211C= (p.Thr404=) | |
| MT | m.7114C>G | CA414791330 | MT-CO1 | c.1211C>G (p.Thr404Ser) | |
| MT | m.7114C>T | CA414791332 | MT-CO1 | c.1211C>T (p.Thr404Ile) | dbSNP |
| MT | m.7115C>A | CA913182274 | MT-CO1 | c.1212C>A (p.Thr404=) | |
| MT | m.7115C= | CA2573326710 | MT-CO1 | c.1212C= (p.Thr404=) | |
| MT | m.7115C>G | CA913182273 | MT-CO1 | c.1212C>G (p.Thr404=) | |
| MT | m.7115C>T | CA913182272 | MT-CO1 | c.1212C>T (p.Thr404=) | |
| MT | m.7116C>A | CA414791334 | MT-CO1 | c.1213C>A (p.Leu405Ile) | |
| MT | m.7116C= | CA2499565030 | MT-CO1 | c.1213C= (p.Leu405=) | |
| MT | m.7116C>G | CA414791338 | MT-CO1 | c.1213C>G (p.Leu405Val) | |
| MT | m.7116C>T | CA913182275 | MT-CO1 | c.1213C>T (p.Leu405=) | dbSNP |
| MT | m.7117T>A | CA414791341 | MT-CO1 | c.1214T>A (p.Leu405Gln) | |
| MT | m.7117T>C | CA414791342 | MT-CO1 | c.1214T>C (p.Leu405Pro) | |
| MT | m.7117T>G | CA414791344 | MT-CO1 | c.1214T>G (p.Leu405Arg) | |
| MT | m.7117T= | CA2573326716 | MT-CO1 | c.1214T= (p.Leu405=) | |
| MT | m.7118A= | CA2499565031 | MT-CO1 | c.1215A= (p.Leu405=) | |
| MT | m.7118A>C | CA913182279 | MT-CO1 | c.1215A>C (p.Leu405=) | |
| MT | m.7118A>G | CA913182278 | MT-CO1 | c.1215A>G (p.Leu405=) | dbSNP |
| MT | m.7118A>T | CA913182277 | MT-CO1 | c.1215A>T (p.Leu405=) | |
| MT | m.7119G>A | CA414791351 | MT-CO1 | c.1216G>A (p.Asp406Asn) | ClinVar dbSNP |
| MT | m.7119G>C | CA414791347 | MT-CO1 | c.1216G>C (p.Asp406His) | |
| MT | m.7119G= | CA2499565032 | MT-CO1 | c.1216G= (p.Asp406=) | |
| MT | m.7119G>T | CA414791350 | MT-CO1 | c.1216G>T (p.Asp406Tyr) | |
| MT | m.7120A= | CA2573326722 | MT-CO1 | c.1217A= (p.Asp406=) | |
| MT | m.7120A>C | CA414791356 | MT-CO1 | c.1217A>C (p.Asp406Ala) | |
| MT | m.7120A>G | CA414791358 | MT-CO1 | c.1217A>G (p.Asp406Gly) | |
| MT | m.7120A>T | CA414791359 | MT-CO1 | c.1217A>T (p.Asp406Val) | |
| MT | m.7121C>A | CA414791360 | MT-CO1 | c.1218C>A (p.Asp406Glu) | |
| MT | m.7121C= | CA2573326725 | MT-CO1 | c.1218C= (p.Asp406=) | |
| MT | m.7121C>G | CA414791361 | MT-CO1 | c.1218C>G (p.Asp406Glu) | |
| MT | m.7121C>T | CA913182281 | MT-CO1 | c.1218C>T (p.Asp406=) | |
| MT | m.7122C>A | CA414791364 | MT-CO1 | c.1219C>A (p.Gln407Lys) | |
| MT | m.7122C= | CA2573326728 | MT-CO1 | c.1219C= (p.Gln407=) | |
| MT | m.7122C>G | CA414791366 | MT-CO1 | c.1219C>G (p.Gln407Glu) | |
| MT | m.7122C>T | CA414791368 | MT-CO1 | c.1219C>T (p.Gln407Ter) | |
| MT | m.7123A= | CA2573326730 | MT-CO1 | c.1220A= (p.Gln407=) | |
| MT | m.7123A>C | CA414791372 | MT-CO1 | c.1220A>C (p.Gln407Pro) | |
| MT | m.7123A>G | CA414791375 | MT-CO1 | c.1220A>G (p.Gln407Arg) | |
| MT | m.7123A>T | CA414791378 | MT-CO1 | c.1220A>T (p.Gln407Leu) | |
| MT | m.7124A= | CA2499565033 | MT-CO1 | c.1221A= (p.Gln407=) | |
| MT | m.7124A>C | CA414791383 | MT-CO1 | c.1221A>C (p.Gln407His) | |
| MT | m.7124A>G | CA913182284 | MT-CO1 | c.1221A>G (p.Gln407=) | dbSNP |
| MT | m.7124A>T | CA414791386 | MT-CO1 | c.1221A>T (p.Gln407His) | |
| MT | m.7125A= | CA2499565034 | MT-CO1 | c.1222A= (p.Thr408=) | |
| MT | m.7125A>C | CA414791394 | MT-CO1 | c.1222A>C (p.Thr408Pro) | |
| MT | m.7125A>G | CA414791390 | MT-CO1 | c.1222A>G (p.Thr408Ala) | ClinVar dbSNP |
| MT | m.7125A>T | CA414791391 | MT-CO1 | c.1222A>T (p.Thr408Ser) | |
| MT | m.7126C>A | CA414791398 | MT-CO1 | c.1223C>A (p.Thr408Asn) | |
| MT | m.7126C= | CA2573326736 | MT-CO1 | c.1223C= (p.Thr408=) | |
| MT | m.7126C>G | CA414791400 | MT-CO1 | c.1223C>G (p.Thr408Ser) | |
| MT | m.7126C>T | CA414791404 | MT-CO1 | c.1223C>T (p.Thr408Ile) | |
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7127C>A | CA913182289 | MT-CO1 | c.1224C>A (p.Thr408=) | |
| MT | m.7127C= | CA2499565035 | MT-CO1 | c.1224C= (p.Thr408=) | |
| MT | m.7127C>G | CA913182288 | MT-CO1 | c.1224C>G (p.Thr408=) | |
| MT | m.7127C>T | CA337097553 | MT-CO1 | c.1224C>T (p.Thr408=) | dbSNP |
| MT | m.7128T>A | CA414791409 | MT-CO1 | c.1225T>A (p.Tyr409Asn) | |
| MT | m.7128T>C | CA414791412 | MT-CO1 | c.1225T>C (p.Tyr409His) | |
| MT | m.7128T>G | CA414791413 | MT-CO1 | c.1225T>G (p.Tyr409Asp) | |
| MT | m.7128T= | CA2573326739 | MT-CO1 | c.1225T= (p.Tyr409=) | |
| MT | m.7129A= | CA2499565036 | MT-CO1 | c.1226A= (p.Tyr409=) | |
| MT | m.7129A>C | CA414791418 | MT-CO1 | c.1226A>C (p.Tyr409Ser) | |
| MT | m.7129A>G | CA414791420 | MT-CO1 | c.1226A>G (p.Tyr409Cys) | ClinVar dbSNP |
| MT | m.7129A>T | CA414791422 | MT-CO1 | c.1226A>T (p.Tyr409Phe) | |
| MT | m.7130C>A | CA414791427 | MT-CO1 | c.1227C>A (p.Tyr409Ter) | |
| MT | m.7130C= | CA2499565037 | MT-CO1 | c.1227C= (p.Tyr409=) | |
| MT | m.7130C>G | CA414791428 | MT-CO1 | c.1227C>G (p.Tyr409Ter) | |
| MT | m.7130C>T | CA913182295 | MT-CO1 | c.1227C>T (p.Tyr409=) | dbSNP |
| MT | m.7131G>A | CA414791437 | MT-CO1 | c.1228G>A (p.Ala410Thr) | |
| MT | m.7131G>C | CA414791433 | MT-CO1 | c.1228G>C (p.Ala410Pro) | |
| MT | m.7131G= | CA2573326743 | MT-CO1 | c.1228G= (p.Ala410=) | |
| MT | m.7131G>T | CA414791435 | MT-CO1 | c.1228G>T (p.Ala410Ser) | |
| MT | m.7132C>A | CA414791441 | MT-CO1 | c.1229C>A (p.Ala410Asp) | |
| MT | m.7132C= | CA2573326745 | MT-CO1 | c.1229C= (p.Ala410=) | |
| MT | m.7132C>G | CA414791444 | MT-CO1 | c.1229C>G (p.Ala410Gly) | |
| MT | m.7132C>T | CA414791445 | MT-CO1 | c.1229C>T (p.Ala410Val) | |
| MT | m.7133C>A | CA913182298 | MT-CO1 | c.1230C>A (p.Ala410=) | |
| MT | m.7133C= | CA2499565038 | MT-CO1 | c.1230C= (p.Ala410=) | |
| MT | m.7133C>G | CA913182300 | MT-CO1 | c.1230C>G (p.Ala410=) | |
| MT | m.7133C>T | CA913182299 | MT-CO1 | c.1230C>T (p.Ala410=) | dbSNP |
| MT | m.7134A= | CA2573326750 | MT-CO1 | c.1231A= (p.Lys411=) | |
| MT | m.7134A>C | CA414791449 | MT-CO1 | c.1231A>C (p.Lys411Gln) | |
| MT | m.7134A>G | CA414791451 | MT-CO1 | c.1231A>G (p.Lys411Glu) | |
| MT | m.7134A>T | CA414791454 | MT-CO1 | c.1231A>T (p.Lys411Ter) | |
| MT | m.7135A= | CA2573326753 | MT-CO1 | c.1232A= (p.Lys411=) | |
| MT | m.7135A>C | CA414791459 | MT-CO1 | c.1232A>C (p.Lys411Thr) | |
| MT | m.7135A>G | CA414791455 | MT-CO1 | c.1232A>G (p.Lys411Arg) | |
| MT | m.7135A>T | CA414791456 | MT-CO1 | c.1232A>T (p.Lys411Ile) | |
| MT | m.7136A= | CA2573326756 | MT-CO1 | c.1233A= (p.Lys411=) | |
| MT | m.7136A>C | CA414791463 | MT-CO1 | c.1233A>C (p.Lys411Asn) | |
| MT | m.7136A>G | CA913182301 | MT-CO1 | c.1233A>G (p.Lys411=) | |
| MT | m.7136A>T | CA414791465 | MT-CO1 | c.1233A>T (p.Lys411Asn) | |
| MT | m.7137A= | CA2573326758 | MT-CO1 | c.1234A= (p.Ile412=) | |
| MT | m.7137A>C | CA414791469 | MT-CO1 | c.1234A>C (p.Ile412Leu) | |
| MT | m.7137A>G | CA414791472 | MT-CO1 | c.1234A>G (p.Ile412Val) | |
| MT | m.7137A>T | CA414791474 | MT-CO1 | c.1234A>T (p.Ile412Phe) |