SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| 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.13592C>A | CA414818670 | MT-ND5 | c.1256C>A (p.Thr419Lys) | |
| MT | m.13592C= | CA2573324836 | MT-ND5 | c.1256C= (p.Thr419=) | |
| MT | m.13592C>G | CA414818671 | MT-ND5 | c.1256C>G (p.Thr419Arg) | |
| MT | m.13592C>T | CA414818672 | MT-ND5 | c.1256C>T (p.Thr419Ile) | |
| MT | m.13593A= | CA2573324838 | MT-ND5 | c.1257A= (p.Thr419=) | |
| MT | m.13593A>C | CA913171069 | MT-ND5 | c.1257A>C (p.Thr419=) | |
| MT | m.13593A>G | CA913171067 | MT-ND5 | c.1257A>G (p.Thr419=) | |
| MT | m.13593A>T | CA913171068 | MT-ND5 | c.1257A>T (p.Thr419=) | |
| MT | m.13594A= | CA2499568068 | MT-ND5 | c.1258A= (p.Ser420=) | |
| MT | m.13594A>C | CA414818674 | MT-ND5 | c.1258A>C (p.Ser420Arg) | |
| MT | m.13594A>G | CA414818677 | MT-ND5 | c.1258A>G (p.Ser420Gly) | ClinVar dbSNP |
| MT | m.13594A>T | CA414818678 | MT-ND5 | c.1258A>T (p.Ser420Cys) | |
| MT | m.13595G>A | CA414818680 | MT-ND5 | c.1259G>A (p.Ser420Asn) | |
| MT | m.13595G>C | CA414818681 | MT-ND5 | c.1259G>C (p.Ser420Thr) | |
| MT | m.13595G= | CA2573324843 | MT-ND5 | c.1259G= (p.Ser420=) | |
| MT | m.13595G>T | CA414818684 | MT-ND5 | c.1259G>T (p.Ser420Ile) | |
| MT | m.13596C>A | CA414818686 | MT-ND5 | c.1260C>A (p.Ser420Arg) | |
| MT | m.13596C= | CA2499568069 | MT-ND5 | c.1260C= (p.Ser420=) | |
| MT | m.13596C>G | CA414818688 | MT-ND5 | c.1260C>G (p.Ser420Arg) | |
| MT | m.13596C>T | CA913171070 | MT-ND5 | c.1260C>T (p.Ser420=) | dbSNP |
| MT | m.13597G>A | CA414818690 | MT-ND5 | c.1261G>A (p.Ala421Thr) | |
| MT | m.13597G>C | CA414818692 | MT-ND5 | c.1261G>C (p.Ala421Pro) | |
| MT | m.13597G= | CA2573324849 | MT-ND5 | c.1261G= (p.Ala421=) | |
| MT | m.13597G>T | CA414818694 | MT-ND5 | c.1261G>T (p.Ala421Ser) | |
| MT | m.13598C>A | CA414818696 | MT-ND5 | c.1262C>A (p.Ala421Asp) | |
| MT | m.13598C= | CA2573324851 | MT-ND5 | c.1262C= (p.Ala421=) | |
| MT | m.13598C>G | CA414818698 | MT-ND5 | c.1262C>G (p.Ala421Gly) | |
| MT | m.13598C>T | CA414818700 | MT-ND5 | c.1262C>T (p.Ala421Val) | |
| MT | m.13599C>A | CA913171072 | MT-ND5 | c.1263C>A (p.Ala421=) | |
| MT | m.13599C= | CA2499568070 | MT-ND5 | c.1263C= (p.Ala421=) | |
| MT | m.13599C>G | CA913171071 | MT-ND5 | c.1263C>G (p.Ala421=) | |
| MT | m.13599C>T | CA337099746 | MT-ND5 | c.1263C>T (p.Ala421=) | dbSNP |
| MT | m.13600T>A | CA414818703 | MT-ND5 | c.1264T>A (p.Tyr422Asn) | |
| MT | m.13600T>C | CA414818705 | MT-ND5 | c.1264T>C (p.Tyr422His) | |
| MT | m.13600T>G | CA414818707 | MT-ND5 | c.1264T>G (p.Tyr422Asp) | |
| MT | m.13600T= | CA2573324855 | MT-ND5 | c.1264T= (p.Tyr422=) | |
| MT | m.13601A= | CA2573324857 | MT-ND5 | c.1265A= (p.Tyr422=) | |
| MT | m.13601A>C | CA414818709 | MT-ND5 | c.1265A>C (p.Tyr422Ser) | |
| MT | m.13601A>G | CA414818710 | MT-ND5 | c.1265A>G (p.Tyr422Cys) | |
| MT | m.13601A>T | CA414818712 | MT-ND5 | c.1265A>T (p.Tyr422Phe) | |
| MT | m.13602T>A | CA337099750 | MT-ND5 | c.1266T>A (p.Tyr422Ter) | |
| MT | m.13602T>C | CA913171073 | MT-ND5 | c.1266T>C (p.Tyr422=) | dbSNP |
| MT | m.13602T>G | CA337099748 | MT-ND5 | c.1266T>G (p.Tyr422Ter) | |
| MT | m.13602T= | CA2499568071 | MT-ND5 | c.1266T= (p.Tyr422=) | |
| MT | m.13603A= | CA2573324860 | MT-ND5 | c.1267A= (p.Ser423=) | |
| MT | m.13603A>C | CA414818717 | MT-ND5 | c.1267A>C (p.Ser423Arg) | |
| MT | m.13603A>G | CA414818719 | MT-ND5 | c.1267A>G (p.Ser423Gly) | |
| MT | m.13603A>T | CA414818720 | MT-ND5 | c.1267A>T (p.Ser423Cys) | |
| MT | m.13604G>A | CA414818723 | MT-ND5 | c.1268G>A (p.Ser423Asn) | dbSNP |
| MT | m.13604G>C | CA414818724 | MT-ND5 | c.1268G>C (p.Ser423Thr) | dbSNP |
| MT | m.13604G= | CA2499568072 | MT-ND5 | c.1268G= (p.Ser423=) | |
| MT | m.13604G>T | CA414818726 | MT-ND5 | c.1268G>T (p.Ser423Ile) | |
| MT | m.13605C>A | CA414818727 | MT-ND5 | c.1269C>A (p.Ser423Arg) | |
| MT | m.13605C= | CA2499568073 | MT-ND5 | c.1269C= (p.Ser423=) | |
| MT | m.13605C>G | CA414818729 | MT-ND5 | c.1269C>G (p.Ser423Arg) | |
| MT | m.13605C>T | CA913171074 | MT-ND5 | c.1269C>T (p.Ser423=) | dbSNP |
| MT | m.13606A= | CA2499568074 | MT-ND5 | c.1270A= (p.Thr424=) | |
| MT | m.13606A>C | CA414818730 | MT-ND5 | c.1270A>C (p.Thr424Pro) | |
| MT | m.13606A>G | CA414818733 | MT-ND5 | c.1270A>G (p.Thr424Ala) | ClinVar dbSNP |
| MT | m.13606A>T | CA414818734 | MT-ND5 | c.1270A>T (p.Thr424Ser) | |
| MT | m.13607C>A | CA414818741 | MT-ND5 | c.1271C>A (p.Thr424Asn) | |
| MT | m.13607C= | CA2573324866 | MT-ND5 | c.1271C= (p.Thr424=) | |
| MT | m.13607C>G | CA414818738 | MT-ND5 | c.1271C>G (p.Thr424Ser) | |
| MT | m.13607C>T | CA414818736 | MT-ND5 | c.1271C>T (p.Thr424Ile) | |
| MT | m.13608T>A | CA913171075 | MT-ND5 | c.1272T>A (p.Thr424=) | |
| MT | m.13608T>C | CA913171076 | MT-ND5 | c.1272T>C (p.Thr424=) | |
| MT | m.13608T>G | CA913171077 | MT-ND5 | c.1272T>G (p.Thr424=) | |
| MT | m.13608T= | CA2573324868 | MT-ND5 | c.1272T= (p.Thr424=) | |
| MT | m.13609C>A | CA913171078 | MT-ND5 | c.1273C>A (p.Arg425=) | |
| MT | m.13609C= | CA2499568075 | MT-ND5 | c.1273C= (p.Arg425=) | |
| MT | m.13609C>G | CA337099752 | MT-ND5 | c.1273C>G (p.Arg425Gly) | dbSNP |
| MT | m.13609C>T | CA414818744 | MT-ND5 | c.1273C>T (p.Arg425Ter) | |
| MT | m.13610G>A | CA414818746 | MT-ND5 | c.1274G>A (p.Arg425Gln) | |
| MT | m.13610G>C | CA414818747 | MT-ND5 | c.1274G>C (p.Arg425Pro) | |
| MT | m.13610G= | CA2573324874 | MT-ND5 | c.1274G= (p.Arg425=) | |
| MT | m.13610G>T | CA414818750 | MT-ND5 | c.1274G>T (p.Arg425Leu) | |
| MT | m.13611A= | CA2499568076 | MT-ND5 | c.1275A= (p.Arg425=) | |
| MT | m.13611A>C | CA913171079 | MT-ND5 | c.1275A>C (p.Arg425=) | |
| MT | m.13611A>G | CA913171080 | MT-ND5 | c.1275A>G (p.Arg425=) | dbSNP |
| MT | m.13611A>T | CA913171081 | MT-ND5 | c.1275A>T (p.Arg425=) | |
| MT | m.13612A= | CA2499568077 | MT-ND5 | c.1276A= (p.Ile426=) | |
| MT | m.13612A>C | CA414818752 | MT-ND5 | c.1276A>C (p.Ile426Leu) | |
| MT | m.13612A>G | CA414818753 | MT-ND5 | c.1276A>G (p.Ile426Val) | |
| MT | m.13612A>T | CA414818755 | MT-ND5 | c.1276A>T (p.Ile426Leu) | ClinVar dbSNP |
| MT | m.13613T>A | CA414818758 | MT-ND5 | c.1277T>A (p.Ile426Lys) | |
| MT | m.13613T>C | CA414818760 | MT-ND5 | c.1277T>C (p.Ile426Thr) | |
| MT | m.13613T>G | CA414818759 | MT-ND5 | c.1277T>G (p.Ile426Arg) | |
| MT | m.13613T= | CA2573324885 | MT-ND5 | c.1277T= (p.Ile426=) | |
| MT | m.13614A= | CA2499568078 | MT-ND5 | c.1278A= (p.Ile426=) | |
| MT | m.13614A>C | CA913171082 | MT-ND5 | c.1278A>C (p.Ile426=) | |
| MT | m.13614A>G | CA414818763 | MT-ND5 | c.1278A>G (p.Ile426Met) | dbSNP |
| MT | m.13614A>T | CA913171083 | MT-ND5 | c.1278A>T (p.Ile426=) | |
| MT | m.13615A= | CA2499568079 | MT-ND5 | c.1279A= (p.Ile427=) | |
| MT | m.13615A>C | CA414818765 | MT-ND5 | c.1279A>C (p.Ile427Leu) | |
| MT | m.13615A>G | CA414818768 | MT-ND5 | c.1279A>G (p.Ile427Val) | ClinVar dbSNP |
| MT | m.13615A>T | CA414818770 | MT-ND5 | c.1279A>T (p.Ile427Phe) | |
| MT | m.13616T>A | CA414818772 | MT-ND5 | c.1280T>A (p.Ile427Asn) | |
| MT | m.13616T>C | CA414818776 | MT-ND5 | c.1280T>C (p.Ile427Thr) | ClinVar dbSNP |
| MT | m.13616T>G | CA414818774 | MT-ND5 | c.1280T>G (p.Ile427Ser) | |
| MT | m.13616T= | CA2499568080 | MT-ND5 | c.1280T= (p.Ile427=) | |
| MT | m.13620_13622del | CA2573105290 | MT-ND5 | c.1284_1286del (p.Leu429del) | |
| MT | m.13617T>A | CA913171084 | MT-ND5 | c.1281T>A (p.Ile427=) | |
| MT | m.13617T>C | CA337099754 | MT-ND5 | c.1281T>C (p.Ile427=) | dbSNP |
| MT | m.13617T>G | CA414818779 | MT-ND5 | c.1281T>G (p.Ile427Met) | |
| MT | m.13617T= | CA2499568081 | MT-ND5 | c.1281T= (p.Ile427=) | |
| MT | m.13618C>A | CA414818781 | MT-ND5 | c.1282C>A (p.Leu428Ile) | |
| MT | m.13618C= | CA2573324895 | MT-ND5 | c.1282C= (p.Leu428=) | |
| MT | m.13618C>G | CA414818782 | MT-ND5 | c.1282C>G (p.Leu428Val) | |
| MT | m.13618C>T | CA414818784 | MT-ND5 | c.1282C>T (p.Leu428Phe) | |
| MT | m.13619T>A | CA414818786 | MT-ND5 | c.1283T>A (p.Leu428His) | |
| MT | m.13619T>C | CA414818788 | MT-ND5 | c.1283T>C (p.Leu428Pro) | |
| MT | m.13619T>G | CA414818790 | MT-ND5 | c.1283T>G (p.Leu428Arg) | |
| MT | m.13619T= | CA2573324900 | MT-ND5 | c.1283T= (p.Leu428=) | |
| MT | m.13620T>A | CA913171087 | MT-ND5 | c.1284T>A (p.Leu428=) | |
| MT | m.13620T>C | CA913171085 | MT-ND5 | c.1284T>C (p.Leu428=) | dbSNP |
| MT | m.13620T>G | CA913171086 | MT-ND5 | c.1284T>G (p.Leu428=) | |
| MT | m.13620T= | CA2499568082 | MT-ND5 | c.1284T= (p.Leu428=) | |
| MT | m.13621C>A | CA414818792 | MT-ND5 | c.1285C>A (p.Leu429Ile) | |
| MT | m.13621C= | CA2573324903 | MT-ND5 | c.1285C= (p.Leu429=) | |
| MT | m.13621C>G | CA414818794 | MT-ND5 | c.1285C>G (p.Leu429Val) | |
| MT | m.13621C>T | CA414818796 | MT-ND5 | c.1285C>T (p.Leu429Phe) | |
| 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.13678_13679insA | CA2844600231 | MT-ND5 | c.1342_1343insA (p.Pro448HisfsTer8) | |
| 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.13681_13682insAACACA | CA2844600246 | MT-ND5 | c.1345_1346insAACACA (p.Pro448_Thr449insLysHis) | |
| 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.13691del | CA2844600278 | MT-ND5 | c.1355del (p.Asn452ThrfsTer?) | |
| 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 |