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.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.13620_13622del | CA2573105290 | MT-ND5 | c.1284_1286del (p.Leu429del) | |
| MT | m.13622T>A | CA414818798 | MT-ND5 | c.1286T>A (p.Leu429His) | |
| MT | m.13622T>C | CA414818803 | MT-ND5 | c.1286T>C (p.Leu429Pro) | |
| MT | m.13622T>G | CA414818800 | MT-ND5 | c.1286T>G (p.Leu429Arg) | |
| MT | m.13622T= | CA2573324908 | MT-ND5 | c.1286T= (p.Leu429=) | |
| MT | m.13623C>A | CA913171090 | MT-ND5 | c.1287C>A (p.Leu429=) | |
| MT | m.13623C= | CA2499568083 | MT-ND5 | c.1287C= (p.Leu429=) | |
| MT | m.13623C>G | CA913171089 | MT-ND5 | c.1287C>G (p.Leu429=) | dbSNP |
| MT | m.13623C>T | CA913171088 | MT-ND5 | c.1287C>T (p.Leu429=) | dbSNP |
| MT | m.13624A= | CA2573324914 | MT-ND5 | c.1288A= (p.Thr430=) | |
| MT | m.13624A>C | CA414818805 | MT-ND5 | c.1288A>C (p.Thr430Pro) | |
| MT | m.13624A>G | CA414818806 | MT-ND5 | c.1288A>G (p.Thr430Ala) | |
| MT | m.13624A>T | CA414818808 | MT-ND5 | c.1288A>T (p.Thr430Ser) | |
| MT | m.13625C>A | CA414818810 | MT-ND5 | c.1289C>A (p.Thr430Asn) | |
| MT | m.13625C= | CA2573324918 | MT-ND5 | c.1289C= (p.Thr430=) | |
| MT | m.13625C>G | CA414818811 | MT-ND5 | c.1289C>G (p.Thr430Ser) | |
| MT | m.13625C>T | CA414818812 | MT-ND5 | c.1289C>T (p.Thr430Ile) | |
| MT | m.13626C>A | CA913171092 | MT-ND5 | c.1290C>A (p.Thr430=) | |
| MT | m.13626C= | CA2499568084 | MT-ND5 | c.1290C= (p.Thr430=) | |
| MT | m.13626C>G | CA913171091 | MT-ND5 | c.1290C>G (p.Thr430=) | |
| MT | m.13626C>T | CA337099756 | MT-ND5 | c.1290C>T (p.Thr430=) | dbSNP |
| MT | m.13627C>A | CA414818815 | MT-ND5 | c.1291C>A (p.Leu431Ile) | |
| MT | m.13627C= | CA2499568085 | MT-ND5 | c.1291C= (p.Leu431=) | |
| MT | m.13627C>G | CA414818816 | MT-ND5 | c.1291C>G (p.Leu431Val) | |
| MT | m.13627C>T | CA337099759 | MT-ND5 | c.1291C>T (p.Leu431=) | dbSNP |
| MT | m.13628T>A | CA414818820 | MT-ND5 | c.1292T>A (p.Leu431Gln) | |
| MT | m.13628T>C | CA414818821 | MT-ND5 | c.1292T>C (p.Leu431Pro) | |
| MT | m.13628T>G | CA414818823 | MT-ND5 | c.1292T>G (p.Leu431Arg) | |
| MT | m.13628T= | CA2573324926 | MT-ND5 | c.1292T= (p.Leu431=) | |
| MT | m.13629A= | CA2499568086 | MT-ND5 | c.1293A= (p.Leu431=) | |
| MT | m.13629A>C | CA913171093 | MT-ND5 | c.1293A>C (p.Leu431=) | |
| MT | m.13629A>G | CA913171094 | MT-ND5 | c.1293A>G (p.Leu431=) | dbSNP |
| MT | m.13629A>T | CA913171095 | MT-ND5 | c.1293A>T (p.Leu431=) | |
| MT | m.13630A= | CA2499568087 | MT-ND5 | c.1294A= (p.Thr432=) | |
| MT | m.13630A>C | CA414818826 | MT-ND5 | c.1294A>C (p.Thr432Pro) | dbSNP |
| MT | m.13630A>G | CA414818829 | MT-ND5 | c.1294A>G (p.Thr432Ala) | ClinVar dbSNP |
| MT | m.13630A>T | CA414818827 | MT-ND5 | c.1294A>T (p.Thr432Ser) | |
| MT | m.13631C>A | CA414818832 | MT-ND5 | c.1295C>A (p.Thr432Lys) | |
| MT | m.13631C= | CA2573324966 | MT-ND5 | c.1295C= (p.Thr432=) | |
| MT | m.13631C>G | CA414818833 | MT-ND5 | c.1295C>G (p.Thr432Arg) | |
| MT | m.13631C>T | CA414818835 | MT-ND5 | c.1295C>T (p.Thr432Ile) | |
| MT | m.13632A= | CA2499568088 | MT-ND5 | c.1296A= (p.Thr432=) | |
| MT | m.13632A>C | CA913171096 | MT-ND5 | c.1296A>C (p.Thr432=) | |
| MT | m.13632A>G | CA913171097 | MT-ND5 | c.1296A>G (p.Thr432=) | dbSNP |
| MT | m.13632A>T | CA913171098 | MT-ND5 | c.1296A>T (p.Thr432=) | |
| MT | m.13633G>A | CA414818838 | MT-ND5 | c.1297G>A (p.Gly433Ser) | dbSNP |
| MT | m.13633G>C | CA414818839 | MT-ND5 | c.1297G>C (p.Gly433Arg) | |
| MT | m.13633G= | CA2499568089 | MT-ND5 | c.1297G= (p.Gly433=) | |
| MT | m.13633G>T | CA414818840 | MT-ND5 | c.1297G>T (p.Gly433Cys) | |
| MT | m.13634G>A | CA414818841 | MT-ND5 | c.1298G>A (p.Gly433Asp) | |
| MT | m.13634G>C | CA414818842 | MT-ND5 | c.1298G>C (p.Gly433Ala) | |
| MT | m.13634G= | CA2573324970 | MT-ND5 | c.1298G= (p.Gly433=) | |
| MT | m.13634G>T | CA414818843 | MT-ND5 | c.1298G>T (p.Gly433Val) | |
| MT | m.13635T>A | CA913171099 | MT-ND5 | c.1299T>A (p.Gly433=) | dbSNP |
| MT | m.13635T>C | CA10581370 | MT-ND5 | c.1299T>C (p.Gly433=) | ClinVar dbSNP |
| MT | m.13635T>G | CA913171100 | MT-ND5 | c.1299T>G (p.Gly433=) | |
| MT | m.13635T= | CA2499568090 | MT-ND5 | c.1299T= (p.Gly433=) | |
| MT | m.13636C>A | CA414818844 | MT-ND5 | c.1300C>A (p.Gln434Lys) | |
| MT | m.13636C= | CA2573324976 | MT-ND5 | c.1300C= (p.Gln434=) | |
| MT | m.13636C>G | CA414818849 | MT-ND5 | c.1300C>G (p.Gln434Glu) | |
| MT | m.13636C>T | CA414818847 | MT-ND5 | c.1300C>T (p.Gln434Ter) | |
| MT | m.13637A= | CA2499568091 | MT-ND5 | c.1301A= (p.Gln434=) | |
| MT | m.13637A>C | CA414818850 | MT-ND5 | c.1301A>C (p.Gln434Pro) | |
| MT | m.13637A>G | CA344822 | MT-ND5 | c.1301A>G (p.Gln434Arg) | ClinVar dbSNP |
| MT | m.13637A>T | CA414818852 | MT-ND5 | c.1301A>T (p.Gln434Leu) | |
| MT | m.13638A= | CA2499568092 | MT-ND5 | c.1302A= (p.Gln434=) | |
| MT | m.13638A>C | CA414818856 | MT-ND5 | c.1302A>C (p.Gln434His) | |
| MT | m.13638A>G | CA913171101 | MT-ND5 | c.1302A>G (p.Gln434=) | dbSNP |
| MT | m.13638A>T | CA414818857 | MT-ND5 | c.1302A>T (p.Gln434His) | |
| MT | m.13639C>A | CA414818860 | MT-ND5 | c.1303C>A (p.Pro435Thr) | |
| MT | m.13639C= | CA2573324985 | MT-ND5 | c.1303C= (p.Pro435=) | |
| MT | m.13639C>G | CA414818861 | MT-ND5 | c.1303C>G (p.Pro435Ala) | |
| MT | m.13639C>T | CA414818864 | MT-ND5 | c.1303C>T (p.Pro435Ser) | |
| MT | m.13640C>A | CA414818865 | MT-ND5 | c.1304C>A (p.Pro435His) | |
| MT | m.13640C= | CA2573324989 | MT-ND5 | c.1304C= (p.Pro435=) | |
| MT | m.13640C>G | CA414818867 | MT-ND5 | c.1304C>G (p.Pro435Arg) | |
| MT | m.13640C>T | CA414818869 | MT-ND5 | c.1304C>T (p.Pro435Leu) | |
| MT | m.13641T>A | CA913171102 | MT-ND5 | c.1305T>A (p.Pro435=) | |
| MT | m.13641T>C | CA913171103 | MT-ND5 | c.1305T>C (p.Pro435=) | dbSNP |
| MT | m.13641T>G | CA913171104 | MT-ND5 | c.1305T>G (p.Pro435=) | |
| MT | m.13641T= | CA2499568093 | MT-ND5 | c.1305T= (p.Pro435=) | |
| MT | m.13642C>A | CA414818872 | MT-ND5 | c.1306C>A (p.Arg436Ser) | |
| MT | m.13642C= | CA2573324996 | MT-ND5 | c.1306C= (p.Arg436=) | |
| MT | m.13642C>G | CA414818873 | MT-ND5 | c.1306C>G (p.Arg436Gly) | |
| MT | m.13642C>T | CA414818875 | MT-ND5 | c.1306C>T (p.Arg436Cys) | |
| MT | m.13643G>A | CA414818878 | MT-ND5 | c.1307G>A (p.Arg436His) | |
| MT | m.13643G>C | CA414818881 | MT-ND5 | c.1307G>C (p.Arg436Pro) | |
| MT | m.13643G= | CA2573325003 | MT-ND5 | c.1307G= (p.Arg436=) | |
| MT | m.13643G>T | CA414818880 | MT-ND5 | c.1307G>T (p.Arg436Leu) | |
| MT | m.13644C>A | CA913171107 | MT-ND5 | c.1308C>A (p.Arg436=) | |
| MT | m.13644C= | CA2573325007 | MT-ND5 | c.1308C= (p.Arg436=) | |
| MT | m.13644C>G | CA913171106 | MT-ND5 | c.1308C>G (p.Arg436=) | |
| MT | m.13644C>T | CA913171105 | MT-ND5 | c.1308C>T (p.Arg436=) | |
| MT | m.13645T>A | CA414818884 | MT-ND5 | c.1309T>A (p.Phe437Ile) | ClinVar dbSNP |
| MT | m.13645T>C | CA414818886 | MT-ND5 | c.1309T>C (p.Phe437Leu) | dbSNP |
| MT | m.13645T>G | CA414818887 | MT-ND5 | c.1309T>G (p.Phe437Val) | |
| MT | m.13645T= | CA2499568094 | MT-ND5 | c.1309T= (p.Phe437=) | |
| MT | m.13646T>A | CA414818890 | MT-ND5 | c.1310T>A (p.Phe437Tyr) | |
| MT | m.13646T>C | CA414818891 | MT-ND5 | c.1310T>C (p.Phe437Ser) | |
| MT | m.13646T>G | CA414818893 | MT-ND5 | c.1310T>G (p.Phe437Cys) | |
| MT | m.13646T= | CA2573325014 | MT-ND5 | c.1310T= (p.Phe437=) | |
| MT | m.13647C>A | CA414818895 | MT-ND5 | c.1311C>A (p.Phe437Leu) | |
| MT | m.13647C= | CA2573325017 | MT-ND5 | c.1311C= (p.Phe437=) | |
| MT | m.13647C>G | CA414818896 | MT-ND5 | c.1311C>G (p.Phe437Leu) | |
| MT | m.13647C>T | CA913171108 | MT-ND5 | c.1311C>T (p.Phe437=) | |
| MT | m.13650_13651insCCCCC | CA2573105294 | MT-ND5 | c.1314_1315insCCCCC (p.Thr439ProfsTer15) | |
| MT | m.13650dup | CA2573105293 | MT-ND5 | c.1314dup (p.Thr439HisfsTer4) | |
| MT | m.13648C>A | CA414818901 | MT-ND5 | c.1312C>A (p.Pro438Thr) | |
| MT | m.13648C= | CA2573325020 | MT-ND5 | c.1312C= (p.Pro438=) | |
| MT | m.13648C>G | CA414818903 | MT-ND5 | c.1312C>G (p.Pro438Ala) | |
| MT | m.13648C>T | CA414818900 | MT-ND5 | c.1312C>T (p.Pro438Ser) | |
| MT | m.13649C>A | CA414818906 | MT-ND5 | c.1313C>A (p.Pro438His) | |
| MT | m.13649C= | CA2499568095 | MT-ND5 | c.1313C= (p.Pro438=) | |
| MT | m.13649C>G | CA414818907 | MT-ND5 | c.1313C>G (p.Pro438Arg) | |
| MT | m.13649C>T | CA414818909 | MT-ND5 | c.1313C>T (p.Pro438Leu) | ClinVar dbSNP |
| MT | m.13650C>A | CA913171110 | MT-ND5 | c.1314C>A (p.Pro438=) | |
| MT | m.13650C= | CA2499568096 | MT-ND5 | c.1314C= (p.Pro438=) | |
| MT | m.13650C>G | CA913171109 | MT-ND5 | c.1314C>G (p.Pro438=) | dbSNP |
| MT | m.13650C>T | CA337099764 | MT-ND5 | c.1314C>T (p.Pro438=) | dbSNP COSMIC |
| MT | m.13651A= | CA2499568097 | MT-ND5 | c.1315A= (p.Thr439=) | |
| MT | m.13651A>C | CA414818913 | MT-ND5 | c.1315A>C (p.Thr439Pro) | ClinVar dbSNP |
| MT | m.13651A>G | CA414818915 | MT-ND5 | c.1315A>G (p.Thr439Ala) | ClinVar dbSNP |
| MT | m.13651A>T | CA414818917 | MT-ND5 | c.1315A>T (p.Thr439Ser) | ClinVar dbSNP |
| MT | m.13652C>A | CA414818919 | MT-ND5 | c.1316C>A (p.Thr439Asn) | |
| MT | m.13652C= | CA2573325043 | MT-ND5 | c.1316C= (p.Thr439=) | |
| MT | m.13652C>G | CA414818920 | MT-ND5 | c.1316C>G (p.Thr439Ser) | |
| MT | m.13652C>T | CA414818923 | MT-ND5 | c.1316C>T (p.Thr439Ile) | |
| MT | m.13653C>A | CA913171112 | MT-ND5 | c.1317C>A (p.Thr439=) | |
| MT | m.13653C= | CA2499568098 | MT-ND5 | c.1317C= (p.Thr439=) | |
| MT | m.13653C>G | CA913171111 | MT-ND5 | c.1317C>G (p.Thr439=) | |
| MT | m.13653C>T | CA337099766 | MT-ND5 | c.1317C>T (p.Thr439=) | dbSNP |
| MT | m.13654C>A | CA414818931 | MT-ND5 | c.1318C>A (p.Leu440Ile) | |
| MT | m.13654C= | CA2499568099 | MT-ND5 | c.1318C= (p.Leu440=) | |
| MT | m.13654C>G | CA414818929 | MT-ND5 | c.1318C>G (p.Leu440Val) | |
| MT | m.13654C>T | CA414818927 | MT-ND5 | c.1318C>T (p.Leu440Phe) | dbSNP |
| MT | m.13655T>A | CA414818933 | MT-ND5 | c.1319T>A (p.Leu440His) | |
| MT | m.13655T>C | CA414818935 | MT-ND5 | c.1319T>C (p.Leu440Pro) | |
| MT | m.13655T>G | CA414818937 | MT-ND5 | c.1319T>G (p.Leu440Arg) | |
| MT | m.13655T= | CA2573325051 | MT-ND5 | c.1319T= (p.Leu440=) | |
| MT | m.13656T>A | CA913171113 | MT-ND5 | c.1320T>A (p.Leu440=) | |
| MT | m.13656T>C | CA913171114 | MT-ND5 | c.1320T>C (p.Leu440=) | dbSNP |
| MT | m.13656T>G | CA913171115 | MT-ND5 | c.1320T>G (p.Leu440=) | |
| MT | m.13656T= | CA2499568100 | MT-ND5 | c.1320T= (p.Leu440=) | |
| MT | m.13657A= | CA2573325053 | MT-ND5 | c.1321A= (p.Thr441=) | |
| MT | m.13657A>C | CA414818939 | MT-ND5 | c.1321A>C (p.Thr441Pro) | |
| MT | m.13657A>G | CA414818941 | MT-ND5 | c.1321A>G (p.Thr441Ala) | |
| MT | m.13657A>T | CA414818943 | MT-ND5 | c.1321A>T (p.Thr441Ser) | |
| MT | m.13658C>A | CA414818945 | MT-ND5 | c.1322C>A (p.Thr441Asn) | |
| MT | m.13658C= | CA2499568101 | MT-ND5 | c.1322C= (p.Thr441=) | |
| MT | m.13658C>G | CA414818947 | MT-ND5 | c.1322C>G (p.Thr441Ser) | |
| MT | m.13658C>T | CA414818948 | MT-ND5 | c.1322C>T (p.Thr441Ile) | dbSNP |
| MT | m.13659T>A | CA913171116 | MT-ND5 | c.1323T>A (p.Thr441=) | |
| MT | m.13659T>C | CA913171117 | MT-ND5 | c.1323T>C (p.Thr441=) | dbSNP |
| MT | m.13659T>G | CA913171118 | MT-ND5 | c.1323T>G (p.Thr441=) | |
| MT | m.13659T= | CA2499568102 | MT-ND5 | c.1323T= (p.Thr441=) | |
| MT | m.13660A= | CA2499568103 | MT-ND5 | c.1324A= (p.Asn442=) | |
| MT | m.13660A>C | CA414818952 | MT-ND5 | c.1324A>C (p.Asn442His) | |
| MT | m.13660A>G | CA414818953 | MT-ND5 | c.1324A>G (p.Asn442Asp) | dbSNP |
| MT | m.13660A>T | CA414818954 | MT-ND5 | c.1324A>T (p.Asn442Tyr) | |
| MT | m.13661A= | CA2499568104 | MT-ND5 | c.1325A= (p.Asn442=) | |
| MT | m.13661A>C | CA414818957 | MT-ND5 | c.1325A>C (p.Asn442Thr) | |
| MT | m.13661A>G | CA414818961 | MT-ND5 | c.1325A>G (p.Asn442Ser) | ClinVar dbSNP |
| MT | m.13661A>T | CA414818959 | MT-ND5 | c.1325A>T (p.Asn442Ile) | |
| MT | m.13662C>A | CA414818963 | MT-ND5 | c.1326C>A (p.Asn442Lys) | |
| MT | m.13662C= | CA2499568105 | MT-ND5 | c.1326C= (p.Asn442=) | |
| MT | m.13662C>G | CA414818965 | MT-ND5 | c.1326C>G (p.Asn442Lys) | |
| MT | m.13662C>T | CA913171119 | MT-ND5 | c.1326C>T (p.Asn442=) | dbSNP |
| MT | m.13663A= | CA2573325067 | MT-ND5 | c.1327A= (p.Ile443=) | |
| MT | m.13663A>C | CA414818967 | MT-ND5 | c.1327A>C (p.Ile443Leu) | |
| MT | m.13663A>G | CA414818971 | MT-ND5 | c.1327A>G (p.Ile443Val) | |
| MT | m.13663A>T | CA414818969 | MT-ND5 | c.1327A>T (p.Ile443Phe) | |
| MT | m.13664T>A | CA414818973 | MT-ND5 | c.1328T>A (p.Ile443Asn) | |
| MT | m.13664T>C | CA414818977 | MT-ND5 | c.1328T>C (p.Ile443Thr) | ClinVar dbSNP |
| MT | m.13664T>G | CA414818974 | MT-ND5 | c.1328T>G (p.Ile443Ser) | |
| MT | m.13664T= | CA2499568106 | MT-ND5 | c.1328T= (p.Ile443=) | |
| MT | m.13665T>A | CA913171120 | MT-ND5 | c.1329T>A (p.Ile443=) | |
| MT | m.13665T>C | CA913171121 | MT-ND5 | c.1329T>C (p.Ile443=) | dbSNP |
| MT | m.13665T>G | CA414818979 | MT-ND5 | c.1329T>G (p.Ile443Met) | |
| MT | m.13665T= | CA2499568107 | MT-ND5 | c.1329T= (p.Ile443=) | |
| MT | m.13666A= | CA2573325080 | MT-ND5 | c.1330A= (p.Asn444=) | |
| MT | m.13666A>C | CA414818983 | MT-ND5 | c.1330A>C (p.Asn444His) | |
| MT | m.13666A>G | CA414818981 | MT-ND5 | c.1330A>G (p.Asn444Asp) | |
| MT | m.13666A>T | CA414818985 | MT-ND5 | c.1330A>T (p.Asn444Tyr) | |
| MT | m.13667A= | CA2573325084 | MT-ND5 | c.1331A= (p.Asn444=) | |
| MT | m.13667A>C | CA414818987 | MT-ND5 | c.1331A>C (p.Asn444Thr) | |
| MT | m.13667A>G | CA414818989 | MT-ND5 | c.1331A>G (p.Asn444Ser) | |
| MT | m.13667A>T | CA414818990 | MT-ND5 | c.1331A>T (p.Asn444Ile) | |
| MT | m.13668C>A | CA414818993 | MT-ND5 | c.1332C>A (p.Asn444Lys) | |
| MT | m.13668C= | CA2499568108 | MT-ND5 | c.1332C= (p.Asn444=) | |
| MT | m.13668C>G | CA414818995 | MT-ND5 | c.1332C>G (p.Asn444Lys) | |
| MT | m.13668C>T | CA337099768 | MT-ND5 | c.1332C>T (p.Asn444=) | dbSNP |
| MT | m.13669G>A | CA414818998 | MT-ND5 | c.1333G>A (p.Glu445Lys) | |
| MT | m.13669G>C | CA414819000 | MT-ND5 | c.1333G>C (p.Glu445Gln) | |
| MT | m.13669G= | CA2573325091 | MT-ND5 | c.1333G= (p.Glu445=) | |
| MT | m.13669G>T | CA414819001 | MT-ND5 | c.1333G>T (p.Glu445Ter) | |
| MT | m.13670A= | CA2573325094 | MT-ND5 | c.1334A= (p.Glu445=) | |
| MT | m.13670A>C | CA414819007 | MT-ND5 | c.1334A>C (p.Glu445Ala) | |
| MT | m.13670A>G | CA414819006 | MT-ND5 | c.1334A>G (p.Glu445Gly) | |
| MT | m.13670A>T | CA414819004 | MT-ND5 | c.1334A>T (p.Glu445Val) | |
| MT | m.13671A= | CA2499568109 | MT-ND5 | c.1335A= (p.Glu445=) | |
| MT | m.13671A>C | CA414819010 | MT-ND5 | c.1335A>C (p.Glu445Asp) | |
| MT | m.13671A>G | CA913171122 | MT-ND5 | c.1335A>G (p.Glu445=) | dbSNP |
| MT | m.13671A>T | CA414819012 | MT-ND5 | c.1335A>T (p.Glu445Asp) | |
| MT | m.13672A= | CA2573325098 | MT-ND5 | c.1336A= (p.Asn446=) | |
| MT | m.13672A>C | CA414819015 | MT-ND5 | c.1336A>C (p.Asn446His) | |
| MT | m.13672A>G | CA414819016 | MT-ND5 | c.1336A>G (p.Asn446Asp) | |
| MT | m.13672A>T | CA414819017 | MT-ND5 | c.1336A>T (p.Asn446Tyr) | |
| MT | m.13673A= | CA2573325101 | MT-ND5 | c.1337A= (p.Asn446=) | |
| MT | m.13673A>C | CA414819020 | MT-ND5 | c.1337A>C (p.Asn446Thr) | |
| MT | m.13673A>G | CA414819022 | MT-ND5 | c.1337A>G (p.Asn446Ser) | |
| MT | m.13673A>T | CA414819023 | MT-ND5 | c.1337A>T (p.Asn446Ile) | |
| MT | m.13674T>A | CA414819026 | MT-ND5 | c.1338T>A (p.Asn446Lys) | |
| MT | m.13674T>C | CA913171123 | MT-ND5 | c.1338T>C (p.Asn446=) | dbSNP |
| MT | m.13674T>G | CA414819028 | MT-ND5 | c.1338T>G (p.Asn446Lys) | |
| MT | m.13674T= | CA2499568110 | MT-ND5 | c.1338T= (p.Asn446=) | |
| MT | m.13675A= | CA2573325106 | MT-ND5 | c.1339A= (p.Asn447=) | |
| MT | m.13675A>C | CA414819034 | MT-ND5 | c.1339A>C (p.Asn447His) | |
| MT | m.13675A>G | CA414819032 | MT-ND5 | c.1339A>G (p.Asn447Asp) | |
| MT | m.13675A>T | CA414819031 | MT-ND5 | c.1339A>T (p.Asn447Tyr) | |
| MT | m.13676A= | CA2499568111 | MT-ND5 | c.1340A= (p.Asn447=) | |
| MT | m.13676A>C | CA414819037 | MT-ND5 | c.1340A>C (p.Asn447Thr) | |
| MT | m.13676A>G | CA414819038 | MT-ND5 | c.1340A>G (p.Asn447Ser) | ClinVar dbSNP COSMIC |
| MT | m.13676A>T | CA414819040 | MT-ND5 | c.1340A>T (p.Asn447Ile) | |
| MT | m.13680_13684del | CA2740098357 | MT-ND5 | c.1344_1348del (p.Leu450LysfsTer4) | |
| MT | m.13677C>A | CA414819042 | MT-ND5 | c.1341C>A (p.Asn447Lys) | |
| MT | m.13677C= | CA2499568112 | MT-ND5 | c.1341C= (p.Asn447=) | |
| MT | m.13677C>G | CA414819043 | MT-ND5 | c.1341C>G (p.Asn447Lys) | |
| MT | m.13677C>T | CA913171124 | MT-ND5 | c.1341C>T (p.Asn447=) | dbSNP |
| MT | m.13678C>A | CA414819047 | MT-ND5 | c.1342C>A (p.Pro448Thr) | |
| MT | m.13678C= | CA2573325115 | MT-ND5 | c.1342C= (p.Pro448=) | |
| MT | m.13678C>G | CA414819048 | MT-ND5 | c.1342C>G (p.Pro448Ala) | |
| MT | m.13678C>T | CA414819049 | MT-ND5 | c.1342C>T (p.Pro448Ser) | |
| MT | m.13679C>A | CA414819052 | MT-ND5 | c.1343C>A (p.Pro448His) | |
| MT | m.13679C= | CA2573325119 | MT-ND5 | c.1343C= (p.Pro448=) | |
| MT | m.13679C>G | CA414819054 | MT-ND5 | c.1343C>G (p.Pro448Arg) | |
| MT | m.13679C>T | CA414819055 | MT-ND5 | c.1343C>T (p.Pro448Leu) | |
| MT | m.13680C>A | CA913171125 | MT-ND5 | c.1344C>A (p.Pro448=) | |
| MT | m.13680C= | CA2499568113 | MT-ND5 | c.1344C= (p.Pro448=) | |
| MT | m.13680C>G | CA913171126 | MT-ND5 | c.1344C>G (p.Pro448=) | |
| MT | m.13680C>T | CA645611420 | MT-ND5 | c.1344C>T (p.Pro448=) | dbSNP COSMIC |
| MT | m.13681A= | CA2499568114 | MT-ND5 | c.1345A= (p.Thr449=) | |
| MT | m.13681A>C | CA337099770 | MT-ND5 | c.1345A>C (p.Thr449Pro) | |
| MT | m.13681A>G | CA414819058 | MT-ND5 | c.1345A>G (p.Thr449Ala) | ClinVar dbSNP |
| MT | m.13681A>T | CA337099772 | MT-ND5 | c.1345A>T (p.Thr449Ser) | ClinVar dbSNP |
| MT | m.13682C>A | CA414819062 | MT-ND5 | c.1346C>A (p.Thr449Asn) | |
| MT | m.13682C= | CA2573325133 | MT-ND5 | c.1346C= (p.Thr449=) | |
| MT | m.13682C>G | CA414819063 | MT-ND5 | c.1346C>G (p.Thr449Ser) | |
| MT | m.13682C>T | CA414819066 | MT-ND5 | c.1346C>T (p.Thr449Ile) | |
| MT | m.13683C>A | CA913171127 | MT-ND5 | c.1347C>A (p.Thr449=) | |
| MT | m.13683C= | CA2499568115 | MT-ND5 | c.1347C= (p.Thr449=) | |
| MT | m.13683C>G | CA913171128 | MT-ND5 | c.1347C>G (p.Thr449=) | dbSNP |
| MT | m.13683C>T | CA913171129 | MT-ND5 | c.1347C>T (p.Thr449=) | dbSNP |
| MT | m.13684C>A | CA414819068 | MT-ND5 | c.1348C>A (p.Leu450Ile) | |
| MT | m.13684C= | CA2573325137 | MT-ND5 | c.1348C= (p.Leu450=) | |
| MT | m.13684C>G | CA414819069 | MT-ND5 | c.1348C>G (p.Leu450Val) | |
| MT | m.13684C>T | CA913171130 | MT-ND5 | c.1348C>T (p.Leu450=) | |
| MT | m.13685T>A | CA414819072 | MT-ND5 | c.1349T>A (p.Leu450Gln) | |
| MT | m.13685T>C | CA414819074 | MT-ND5 | c.1349T>C (p.Leu450Pro) | |
| MT | m.13685T>G | CA414819075 | MT-ND5 | c.1349T>G (p.Leu450Arg) | |
| MT | m.13685T= | CA2573325141 | MT-ND5 | c.1349T= (p.Leu450=) | |
| MT | m.13686A= | CA2573325146 | MT-ND5 | c.1350A= (p.Leu450=) | |
| MT | m.13686A>C | CA913171131 | MT-ND5 | c.1350A>C (p.Leu450=) | |
| MT | m.13686A>G | CA913171132 | MT-ND5 | c.1350A>G (p.Leu450=) | |
| MT | m.13686A>T | CA913171133 | MT-ND5 | c.1350A>T (p.Leu450=) | |
| MT | m.13687C>A | CA414819076 | MT-ND5 | c.1351C>A (p.Leu451Ile) | |
| MT | m.13687C= | CA2573325151 | MT-ND5 | c.1351C= (p.Leu451=) | |
| MT | m.13687C>G | CA414819079 | MT-ND5 | c.1351C>G (p.Leu451Val) | |
| MT | m.13687C>T | CA913171134 | MT-ND5 | c.1351C>T (p.Leu451=) | dbSNP |
| MT | m.13688T>A | CA414819083 | MT-ND5 | c.1352T>A (p.Leu451Gln) | |
| MT | m.13688T>C | CA414819085 | MT-ND5 | c.1352T>C (p.Leu451Pro) | COSMIC |
| MT | m.13688T>G | CA414819081 | MT-ND5 | c.1352T>G (p.Leu451Arg) | |
| MT | m.13688T= | CA2573325154 | MT-ND5 | c.1352T= (p.Leu451=) | |
| MT | m.13689A= | CA2573325159 | MT-ND5 | c.1353A= (p.Leu451=) | |
| MT | m.13689A>C | CA913171135 | MT-ND5 | c.1353A>C (p.Leu451=) | |
| MT | m.13689A>G | CA913171136 | MT-ND5 | c.1353A>G (p.Leu451=) | |
| MT | m.13689A>T | CA913171137 | MT-ND5 | c.1353A>T (p.Leu451=) | |
| MT | m.13690A= | CA2573325162 | MT-ND5 | c.1354A= (p.Asn452=) | |
| MT | m.13690A>C | CA414819091 | MT-ND5 | c.1354A>C (p.Asn452His) | |
| MT | m.13690A>G | CA414819088 | MT-ND5 | c.1354A>G (p.Asn452Asp) | |
| MT | m.13690A>T | CA414819090 | MT-ND5 | c.1354A>T (p.Asn452Tyr) | |
| MT | m.13691A= | CA2573325165 | MT-ND5 | c.1355A= (p.Asn452=) | |
| MT | m.13691A>C | CA414819093 | MT-ND5 | c.1355A>C (p.Asn452Thr) | |
| MT | m.13691A>G | CA414819094 | MT-ND5 | c.1355A>G (p.Asn452Ser) | |
| MT | m.13691A>T | CA414819096 | MT-ND5 | c.1355A>T (p.Asn452Ile) | |
| MT | m.13692C>A | CA414819099 | MT-ND5 | c.1356C>A (p.Asn452Lys) | |
| MT | m.13692C= | CA2499568116 | MT-ND5 | c.1356C= (p.Asn452=) | |
| MT | m.13692C>G | CA414819100 | MT-ND5 | c.1356C>G (p.Asn452Lys) | |
| MT | m.13692C>T | CA913171138 | MT-ND5 | c.1356C>T (p.Asn452=) | dbSNP |
| MT | m.13693C>A | CA414819102 | MT-ND5 | c.1357C>A (p.Pro453Thr) | |
| MT | m.13693C= | CA2573325172 | MT-ND5 | c.1357C= (p.Pro453=) | |
| MT | m.13693C>G | CA414819104 | MT-ND5 | c.1357C>G (p.Pro453Ala) | |
| MT | m.13693C>T | CA414819106 | MT-ND5 | c.1357C>T (p.Pro453Ser) | |
| MT | m.13694C>A | CA414819113 | MT-ND5 | c.1358C>A (p.Pro453His) | |
| MT | m.13694C= | CA2573325173 | MT-ND5 | c.1358C= (p.Pro453=) | |
| MT | m.13694C>G | CA414819108 | MT-ND5 | c.1358C>G (p.Pro453Arg) | |
| MT | m.13694C>T | CA414819110 | MT-ND5 | c.1358C>T (p.Pro453Leu) | |
| MT | m.13695C>A | CA913171141 | MT-ND5 | c.1359C>A (p.Pro453=) | |
| MT | m.13695C= | CA2573325175 | MT-ND5 | c.1359C= (p.Pro453=) | |
| MT | m.13695C>G | CA913171139 | MT-ND5 | c.1359C>G (p.Pro453=) | |
| MT | m.13695C>T | CA913171140 | MT-ND5 | c.1359C>T (p.Pro453=) | |
| MT | m.13696A= | CA2573325179 | MT-ND5 | c.1360A= (p.Ile454=) | |
| MT | m.13696A>C | CA414819115 | MT-ND5 | c.1360A>C (p.Ile454Leu) | |
| MT | m.13696A>G | CA414819116 | MT-ND5 | c.1360A>G (p.Ile454Val) | |
| MT | m.13696A>T | CA414819118 | MT-ND5 | c.1360A>T (p.Ile454Phe) | |
| MT | m.13697T>A | CA414819121 | MT-ND5 | c.1361T>A (p.Ile454Asn) | |
| MT | m.13697T>C | CA414819123 | MT-ND5 | c.1361T>C (p.Ile454Thr) | |
| MT | m.13697T>G | CA414819125 | MT-ND5 | c.1361T>G (p.Ile454Ser) | |
| MT | m.13697T= | CA2573325183 | MT-ND5 | c.1361T= (p.Ile454=) | |
| MT | m.13698T>A | CA913171143 | MT-ND5 | c.1362T>A (p.Ile454=) | |
| MT | m.13698T>C | CA913171142 | MT-ND5 | c.1362T>C (p.Ile454=) | |
| MT | m.13698T>G | CA414819127 | MT-ND5 | c.1362T>G (p.Ile454Met) | |
| MT | m.13698T= | CA2573325187 | MT-ND5 | c.1362T= (p.Ile454=) | |
| MT | m.13699A= | CA2573325190 | MT-ND5 | c.1363A= (p.Lys455=) | |
| MT | m.13699A>C | CA414819130 | MT-ND5 | c.1363A>C (p.Lys455Gln) | |
| MT | m.13699A>G | CA414819132 | MT-ND5 | c.1363A>G (p.Lys455Glu) | |
| MT | m.13699A>T | CA414819133 | MT-ND5 | c.1363A>T (p.Lys455Ter) | |
| MT | m.13700A= | CA2573325193 | MT-ND5 | c.1364A= (p.Lys455=) | |
| MT | m.13700A>C | CA414819138 | MT-ND5 | c.1364A>C (p.Lys455Thr) | |
| MT | m.13700A>G | CA414819139 | MT-ND5 | c.1364A>G (p.Lys455Arg) | |
| MT | m.13700A>T | CA414819136 | MT-ND5 | c.1364A>T (p.Lys455Ile) | |
| MT | m.13701A= | CA2499568117 | MT-ND5 | c.1365A= (p.Lys455=) | |
| MT | m.13701A>C | CA414819141 | MT-ND5 | c.1365A>C (p.Lys455Asn) | |
| MT | m.13701A>G | CA645611421 | MT-ND5 | c.1365A>G (p.Lys455=) | dbSNP COSMIC |
| MT | m.13701A>T | CA414819143 | MT-ND5 | c.1365A>T (p.Lys455Asn) | |
| MT | m.13702C>A | CA414819145 | MT-ND5 | c.1366C>A (p.Arg456Ser) | |
| MT | m.13702C= | CA2499568118 | MT-ND5 | c.1366C= (p.Arg456=) | |
| MT | m.13702C>G | CA337099774 | MT-ND5 | c.1366C>G (p.Arg456Gly) | dbSNP |
| MT | m.13702C>T | CA414819148 | MT-ND5 | c.1366C>T (p.Arg456Cys) | |
| MT | m.13703G>A | CA414819155 | MT-ND5 | c.1367G>A (p.Arg456His) | COSMIC |
| MT | m.13703G>C | CA414819151 | MT-ND5 | c.1367G>C (p.Arg456Pro) | |
| MT | m.13703G= | CA2573325200 | MT-ND5 | c.1367G= (p.Arg456=) | |
| MT | m.13703G>T | CA414819153 | MT-ND5 | c.1367G>T (p.Arg456Leu) | |
| MT | m.13704C>A | CA913171144 | MT-ND5 | c.1368C>A (p.Arg456=) | |
| MT | m.13704C= | CA2573325202 | MT-ND5 | c.1368C= (p.Arg456=) | |
| MT | m.13704C>G | CA913171145 | MT-ND5 | c.1368C>G (p.Arg456=) | |
| MT | m.13704C>T | CA913171146 | MT-ND5 | c.1368C>T (p.Arg456=) | |
| MT | m.13705C>A | CA414819157 | MT-ND5 | c.1369C>A (p.Leu457Met) | |
| MT | m.13705C= | CA2573325206 | MT-ND5 | c.1369C= (p.Leu457=) | |
| MT | m.13705C>G | CA414819159 | MT-ND5 | c.1369C>G (p.Leu457Val) | |
| MT | m.13705C>T | CA913171147 | MT-ND5 | c.1369C>T (p.Leu457=) | dbSNP |
| MT | m.13706T>A | CA414819161 | MT-ND5 | c.1370T>A (p.Leu457Gln) | |
| MT | m.13706T>C | CA414819162 | MT-ND5 | c.1370T>C (p.Leu457Pro) | |
| MT | m.13706T>G | CA414819164 | MT-ND5 | c.1370T>G (p.Leu457Arg) | |
| MT | m.13706T= | CA2573325211 | MT-ND5 | c.1370T= (p.Leu457=) | |
| MT | m.13707G>A | CA913171148 | MT-ND5 | c.1371G>A (p.Leu457=) | dbSNP |
| MT | m.13707G>C | CA913171149 | MT-ND5 | c.1371G>C (p.Leu457=) | |
| MT | m.13707G= | CA2499568119 | MT-ND5 | c.1371G= (p.Leu457=) | |
| MT | m.13707G>T | CA913171150 | MT-ND5 | c.1371G>T (p.Leu457=) | |
| MT | m.13708G>A | CA340935 | MT-ND5 | c.1372G>A (p.Ala458Thr) | ClinVar dbSNP |
| MT | m.13708G>C | CA414819169 | MT-ND5 | c.1372G>C (p.Ala458Pro) | |
| MT | m.13708G= | CA2499568120 | MT-ND5 | c.1372G= (p.Ala458=) | |
| MT | m.13708G>T | CA414819167 | MT-ND5 | c.1372G>T (p.Ala458Ser) | |
| MT | m.13708_13755del | CA2740098359 | MT-ND5 | c.1372_1419del (p.Ala458_Ser473del) | |
| MT | m.13709C>A | CA414819171 | MT-ND5 | c.1373C>A (p.Ala458Glu) | |
| MT | m.13709C= | CA2573325219 | MT-ND5 | c.1373C= (p.Ala458=) | |
| MT | m.13709C>G | CA414819173 | MT-ND5 | c.1373C>G (p.Ala458Gly) | |
| MT | m.13709C>T | CA414819175 | MT-ND5 | c.1373C>T (p.Ala458Val) | |
| MT | m.13709_13713del | CA2740098360 | MT-ND5 | c.1373_1377del (p.Ala458GlyfsTer11) | |
| MT | m.13710A= | CA2499568121 | MT-ND5 | c.1374A= (p.Ala458=) | |
| MT | m.13710A>C | CA337099776 | MT-ND5 | c.1374A>C (p.Ala458=) | dbSNP |
| MT | m.13710A>G | CA645611422 | MT-ND5 | c.1374A>G (p.Ala458=) | dbSNP COSMIC |
| MT | m.13710A>T | CA913171151 | MT-ND5 | c.1374A>T (p.Ala458=) | |
| MT | m.13711G>A | CA337099778 | MT-ND5 | c.1375G>A (p.Ala459Thr) | ClinVar dbSNP COSMIC |
| MT | m.13711G>C | CA414819179 | MT-ND5 | c.1375G>C (p.Ala459Pro) | |
| MT | m.13711G= | CA2499568122 | MT-ND5 | c.1375G= (p.Ala459=) | |
| MT | m.13711G>T | CA414819181 | MT-ND5 | c.1375G>T (p.Ala459Ser) | |
| MT | m.13712C>A | CA414819183 | MT-ND5 | c.1376C>A (p.Ala459Asp) | |
| MT | m.13712C= | CA2499568123 | MT-ND5 | c.1376C= (p.Ala459=) | |
| MT | m.13712C>G | CA414819185 | MT-ND5 | c.1376C>G (p.Ala459Gly) | |
| MT | m.13712C>T | CA414819187 | MT-ND5 | c.1376C>T (p.Ala459Val) | ClinVar dbSNP |
| MT | m.13713C>A | CA16040635 | MT-ND5 | c.1377C>A (p.Ala459=) | ClinVar dbSNP |
| MT | m.13713C= | CA2499568124 | MT-ND5 | c.1377C= (p.Ala459=) | |
| MT | m.13713C>G | CA913171152 | MT-ND5 | c.1377C>G (p.Ala459=) | |
| MT | m.13713C>T | CA913171153 | MT-ND5 | c.1377C>T (p.Ala459=) | dbSNP |
| MT | m.13714G>A | CA414819192 | MT-ND5 | c.1378G>A (p.Gly460Arg) | |
| MT | m.13714G>C | CA414819194 | MT-ND5 | c.1378G>C (p.Gly460Arg) | |
| MT | m.13714G= | CA2573325243 | MT-ND5 | c.1378G= (p.Gly460=) | |
| MT | m.13714G>T | CA414819190 | MT-ND5 | c.1378G>T (p.Gly460Ter) | |
| MT | m.13715G>A | CA414819200 | MT-ND5 | c.1379G>A (p.Gly460Glu) | |
| MT | m.13715G>C | CA414819196 | MT-ND5 | c.1379G>C (p.Gly460Ala) | |
| MT | m.13715G= | CA2573325246 | MT-ND5 | c.1379G= (p.Gly460=) | |
| MT | m.13715G>T | CA414819198 | MT-ND5 | c.1379G>T (p.Gly460Val) | |
| MT | m.13716A= | CA2499568125 | MT-ND5 | c.1380A= (p.Gly460=) | |
| MT | m.13716A>C | CA913171154 | MT-ND5 | c.1380A>C (p.Gly460=) | |
| MT | m.13716A>G | CA913171155 | MT-ND5 | c.1380A>G (p.Gly460=) | dbSNP |
| MT | m.13716A>T | CA913171156 | MT-ND5 | c.1380A>T (p.Gly460=) | |
| MT | m.13716_13720del | CA2740098361 | MT-ND5 | c.1380_1384del (p.Ser461IlefsTer8) | |
| MT | m.13717A= | CA2499568126 | MT-ND5 | c.1381A= (p.Ser461=) | |
| MT | m.13717A>C | CA414819202 | MT-ND5 | c.1381A>C (p.Ser461Arg) | |
| MT | m.13717A>G | CA414819204 | MT-ND5 | c.1381A>G (p.Ser461Gly) | dbSNP |
| MT | m.13717A>T | CA414819206 | MT-ND5 | c.1381A>T (p.Ser461Cys) | |
| MT | m.13718G>A | CA414819208 | MT-ND5 | c.1382G>A (p.Ser461Asn) | |
| MT | m.13718G>C | CA414819210 | MT-ND5 | c.1382G>C (p.Ser461Thr) | dbSNP |
| MT | m.13718G= | CA2499568127 | MT-ND5 | c.1382G= (p.Ser461=) | |
| MT | m.13718G>T | CA414819212 | MT-ND5 | c.1382G>T (p.Ser461Ile) | |
| MT | m.13719C>A | CA414819214 | MT-ND5 | c.1383C>A (p.Ser461Arg) | |
| MT | m.13719C= | CA2499568128 | MT-ND5 | c.1383C= (p.Ser461=) | |
| MT | m.13719C>G | CA414819215 | MT-ND5 | c.1383C>G (p.Ser461Arg) | |
| MT | m.13719C>T | CA913171157 | MT-ND5 | c.1383C>T (p.Ser461=) | dbSNP |
| MT | m.13720C>A | CA414819218 | MT-ND5 | c.1384C>A (p.Leu462Ile) | |
| MT | m.13720C= | CA2499568129 | MT-ND5 | c.1384C= (p.Leu462=) | |
| MT | m.13720C>G | CA414819219 | MT-ND5 | c.1384C>G (p.Leu462Val) | |
| MT | m.13720C>T | CA913171158 | MT-ND5 | c.1384C>T (p.Leu462=) | dbSNP |
| MT | m.13721T>A | CA414819225 | MT-ND5 | c.1385T>A (p.Leu462Gln) | |
| MT | m.13721T>C | CA414819221 | MT-ND5 | c.1385T>C (p.Leu462Pro) | |
| MT | m.13721T>G | CA414819223 | MT-ND5 | c.1385T>G (p.Leu462Arg) | |
| MT | m.13721T= | CA2573325257 | MT-ND5 | c.1385T= (p.Leu462=) | |
| MT | m.13722del | CA2740098362 | MT-ND5 | c.1386del (p.Phe463SerfsTer24) | |
| MT | m.13722A= | CA2499568130 | MT-ND5 | c.1386A= (p.Leu462=) | |
| MT | m.13722A>C | CA337099781 | MT-ND5 | c.1386A>C (p.Leu462=) | |
| MT | m.13722A>G | CA16603314 | MT-ND5 | c.1386A>G (p.Leu462=) | ClinVar dbSNP |
| MT | m.13722A>T | CA337099783 | MT-ND5 | c.1386A>T (p.Leu462=) |