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.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7731_11256del | CA645373334 | ClinVar | ||
| MT | m.8290_13040del | CA645373335 | ClinVar | ||
| MT | m.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8587_12967del | CA645373337 | ClinVar | ||
| MT | m.8815_13722del | CA645373338 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.8968A= | CA2573330648 | MT-ATP6 | c.442A= (p.Ser148=) | |
| MT | m.8968A>C | CA414801696 | MT-ATP6 | c.442A>C (p.Ser148Arg) | |
| MT | m.8968A>G | CA414801692 | MT-ATP6 | c.442A>G (p.Ser148Gly) | |
| MT | m.8968A>T | CA414801694 | MT-ATP6 | c.442A>T (p.Ser148Cys) | |
| MT | m.8969G>A | CA199769 | MT-ATP6 | c.443G>A (p.Ser148Asn) | ClinVar dbSNP |
| MT | m.8969G>C | CA414801699 | MT-ATP6 | c.443G>C (p.Ser148Thr) | dbSNP |
| MT | m.8969G= | CA2499566020 | MT-ATP6 | c.443G= (p.Ser148=) | |
| MT | m.8969G>T | CA414801701 | MT-ATP6 | c.443G>T (p.Ser148Ile) | |
| MT | m.8970C>A | CA414801703 | MT-ATP6 | c.444C>A (p.Ser148Arg) | |
| MT | m.8970C= | CA2499566021 | MT-ATP6 | c.444C= (p.Ser148=) | |
| MT | m.8970C>G | CA414801705 | MT-ATP6 | c.444C>G (p.Ser148Arg) | |
| MT | m.8970C>T | CA913180938 | MT-ATP6 | c.444C>T (p.Ser148=) | dbSNP |
| MT | m.8971C>A | CA414801707 | MT-ATP6 | c.445C>A (p.Leu149Ile) | |
| MT | m.8971C= | CA2573330656 | MT-ATP6 | c.445C= (p.Leu149=) | |
| MT | m.8971C>G | CA414801709 | MT-ATP6 | c.445C>G (p.Leu149Val) | |
| MT | m.8971C>T | CA913180943 | MT-ATP6 | c.445C>T (p.Leu149=) | |
| MT | m.8972T>A | CA414801711 | MT-ATP6 | c.446T>A (p.Leu149Gln) | |
| MT | m.8972T>C | CA414801712 | MT-ATP6 | c.446T>C (p.Leu149Pro) | ClinVar dbSNP |
| MT | m.8972T>G | CA414801713 | MT-ATP6 | c.446T>G (p.Leu149Arg) | dbSNP |
| MT | m.8972T= | CA2499566022 | MT-ATP6 | c.446T= (p.Leu149=) | |
| MT | m.8972_8973del | CA2573105003 | MT-ATP6 | c.446_447del (p.Leu149ProfsTer14) | |
| MT | m.8973A= | CA2573330662 | MT-ATP6 | c.447A= (p.Leu149=) | |
| MT | m.8973A>C | CA913180947 | MT-ATP6 | c.447A>C (p.Leu149=) | |
| MT | m.8973A>G | CA913180949 | MT-ATP6 | c.447A>G (p.Leu149=) | |
| MT | m.8973A>T | CA913180946 | MT-ATP6 | c.447A>T (p.Leu149=) | |
| MT | m.8974C>A | CA414801716 | MT-ATP6 | c.448C>A (p.Leu150Ile) | |
| MT | m.8974C= | CA2499566023 | MT-ATP6 | c.448C= (p.Leu150=) | |
| MT | m.8974C>G | CA414801715 | MT-ATP6 | c.448C>G (p.Leu150Val) | ClinVar dbSNP |
| MT | m.8974C>T | CA414801714 | MT-ATP6 | c.448C>T (p.Leu150Phe) | dbSNP |
| MT | m.8975T>A | CA414801717 | MT-ATP6 | c.449T>A (p.Leu150His) | |
| MT | m.8975T>C | CA337098132 | MT-ATP6 | c.449T>C (p.Leu150Pro) | ClinVar dbSNP |
| MT | m.8975T>G | CA414801718 | MT-ATP6 | c.449T>G (p.Leu150Arg) | |
| MT | m.8975T= | CA2499566024 | MT-ATP6 | c.449T= (p.Leu150=) | |
| MT | m.8976C>A | CA913180960 | MT-ATP6 | c.450C>A (p.Leu150=) | |
| MT | m.8976C= | CA2499566025 | MT-ATP6 | c.450C= (p.Leu150=) | |
| MT | m.8976C>G | CA913180961 | MT-ATP6 | c.450C>G (p.Leu150=) | |
| MT | m.8976C>T | CA913180958 | MT-ATP6 | c.450C>T (p.Leu150=) | dbSNP |
| MT | m.8977A= | CA2499566026 | MT-ATP6 | c.451A= (p.Ile151=) | |
| MT | m.8977A>C | CA414801719 | MT-ATP6 | c.451A>C (p.Ile151Leu) | |
| MT | m.8977A>G | CA414801720 | MT-ATP6 | c.451A>G (p.Ile151Val) | dbSNP |
| MT | m.8977A>T | CA414801722 | MT-ATP6 | c.451A>T (p.Ile151Phe) | |
| MT | m.8978T>A | CA414801725 | MT-ATP6 | c.452T>A (p.Ile151Asn) | |
| MT | m.8978T>C | CA414801726 | MT-ATP6 | c.452T>C (p.Ile151Thr) | ClinVar dbSNP |
| MT | m.8978T>G | CA414801727 | MT-ATP6 | c.452T>G (p.Ile151Ser) | |
| MT | m.8978T= | CA2499566027 | MT-ATP6 | c.452T= (p.Ile151=) | |
| MT | m.8979T>A | CA913180963 | MT-ATP6 | c.453T>A (p.Ile151=) | |
| MT | m.8979T>C | CA913180964 | MT-ATP6 | c.453T>C (p.Ile151=) | dbSNP |
| MT | m.8979T>G | CA414801730 | MT-ATP6 | c.453T>G (p.Ile151Met) | |
| MT | m.8979T= | CA2499566028 | MT-ATP6 | c.453T= (p.Ile151=) | |
| MT | m.8980C>A | CA414801732 | MT-ATP6 | c.454C>A (p.Gln152Lys) | ClinVar dbSNP |
| MT | m.8980C= | CA2499566029 | MT-ATP6 | c.454C= (p.Gln152=) | |
| MT | m.8980C>G | CA414801733 | MT-ATP6 | c.454C>G (p.Gln152Glu) | |
| MT | m.8980C>T | CA414801735 | MT-ATP6 | c.454C>T (p.Gln152Ter) | |
| MT | m.8981A= | CA2499566030 | MT-ATP6 | c.455A= (p.Gln152=) | |
| MT | m.8981A>C | CA414801742 | MT-ATP6 | c.455A>C (p.Gln152Pro) | |
| MT | m.8981A>G | CA414801738 | MT-ATP6 | c.455A>G (p.Gln152Arg) | ClinVar dbSNP |
| MT | m.8981A>T | CA414801739 | MT-ATP6 | c.455A>T (p.Gln152Leu) | |
| MT | m.8982A= | CA2573330688 | MT-ATP6 | c.456A= (p.Gln152=) | |
| MT | m.8982A>C | CA414801744 | MT-ATP6 | c.456A>C (p.Gln152His) | |
| MT | m.8982A>G | CA913180969 | MT-ATP6 | c.456A>G (p.Gln152=) | |
| MT | m.8982A>T | CA414801745 | MT-ATP6 | c.456A>T (p.Gln152His) | |
| MT | m.8983C>A | CA414801747 | MT-ATP6 | c.457C>A (p.Pro153Thr) | |
| MT | m.8983C= | CA2573330695 | MT-ATP6 | c.457C= (p.Pro153=) | |
| MT | m.8983C>G | CA414801749 | MT-ATP6 | c.457C>G (p.Pro153Ala) | |
| MT | m.8983C>T | CA414801751 | MT-ATP6 | c.457C>T (p.Pro153Ser) | |
| MT | m.8984C>A | CA414801753 | MT-ATP6 | c.458C>A (p.Pro153Gln) | |
| MT | m.8984C= | CA2573330701 | MT-ATP6 | c.458C= (p.Pro153=) | |
| MT | m.8984C>G | CA414801755 | MT-ATP6 | c.458C>G (p.Pro153Arg) | |
| MT | m.8984C>T | CA414801757 | MT-ATP6 | c.458C>T (p.Pro153Leu) | |
| MT | m.8985A= | CA2573330705 | MT-ATP6 | c.459A= (p.Pro153=) | |
| MT | m.8985A>C | CA913180973 | MT-ATP6 | c.459A>C (p.Pro153=) | |
| MT | m.8985A>G | CA913180972 | MT-ATP6 | c.459A>G (p.Pro153=) | dbSNP |
| MT | m.8985A>T | CA913180974 | MT-ATP6 | c.459A>T (p.Pro153=) | |
| MT | m.8986A= | CA2499566031 | MT-ATP6 | c.460A= (p.Ile154=) | |
| MT | m.8986A>C | CA414801759 | MT-ATP6 | c.460A>C (p.Ile154Leu) | |
| MT | m.8986A>G | CA414801761 | MT-ATP6 | c.460A>G (p.Ile154Val) | ClinVar dbSNP |
| MT | m.8986A>T | CA414801763 | MT-ATP6 | c.460A>T (p.Ile154Leu) | |
| MT | m.8987T>A | CA414801765 | MT-ATP6 | c.461T>A (p.Ile154Lys) | |
| MT | m.8987T>C | CA414801769 | MT-ATP6 | c.461T>C (p.Ile154Thr) | ClinVar dbSNP |
| MT | m.8987T>G | CA414801767 | MT-ATP6 | c.461T>G (p.Ile154Arg) | |
| MT | m.8987T= | CA2499566032 | MT-ATP6 | c.461T= (p.Ile154=) | |
| MT | m.8987dup | CA2740098166 | MT-ATP6 | c.461dup (p.Ala155SerfsTer9) | |
| MT | m.8988A= | CA2499566033 | MT-ATP6 | c.462A= (p.Ile154=) | |
| MT | m.8988A>C | CA913180978 | MT-ATP6 | c.462A>C (p.Ile154=) | |
| MT | m.8988A>G | CA414801771 | MT-ATP6 | c.462A>G (p.Ile154Met) | dbSNP |
| MT | m.8988A>T | CA913180977 | MT-ATP6 | c.462A>T (p.Ile154=) | |
| MT | m.8989G>A | CA414801774 | MT-ATP6 | c.463G>A (p.Ala155Thr) | ClinVar dbSNP |
| MT | m.8989G>C | CA345922 | MT-ATP6 | c.463G>C (p.Ala155Pro) | ClinVar dbSNP |
| MT | m.8989G= | CA2499566034 | MT-ATP6 | c.463G= (p.Ala155=) | |
| MT | m.8989G>T | CA414801775 | MT-ATP6 | c.463G>T (p.Ala155Ser) | |
| MT | m.8990C>A | CA414801778 | MT-ATP6 | c.464C>A (p.Ala155Asp) | |
| MT | m.8990C= | CA2573330716 | MT-ATP6 | c.464C= (p.Ala155=) | |
| MT | m.8990C>G | CA414801780 | MT-ATP6 | c.464C>G (p.Ala155Gly) | |
| MT | m.8990C>T | CA414801781 | MT-ATP6 | c.464C>T (p.Ala155Val) | |
| MT | m.8991C>A | CA913180981 | MT-ATP6 | c.465C>A (p.Ala155=) | |
| MT | m.8991C= | CA2573330718 | MT-ATP6 | c.465C= (p.Ala155=) | |
| MT | m.8991C>G | CA913180979 | MT-ATP6 | c.465C>G (p.Ala155=) | |
| MT | m.8991C>T | CA913180980 | MT-ATP6 | c.465C>T (p.Ala155=) | dbSNP |
| MT | m.8992C>A | CA414801784 | MT-ATP6 | c.466C>A (p.Leu156Met) | |
| MT | m.8992C= | CA2499566035 | MT-ATP6 | c.466C= (p.Leu156=) | |
| MT | m.8992C>G | CA414801786 | MT-ATP6 | c.466C>G (p.Leu156Val) | |
| MT | m.8992C>T | CA913180985 | MT-ATP6 | c.466C>T (p.Leu156=) | dbSNP |
| MT | m.8993T>A | CA414801787 | MT-ATP6 | c.467T>A (p.Leu156Gln) | |
| MT | m.8993T>C | CA120596 | MT-ATP6 | c.467T>C (p.Leu156Pro) | ClinVar dbSNP |
| MT | m.8993T>G | CA250380 | MT-ATP6 | c.467T>G (p.Leu156Arg) | ClinVar dbSNP |
| MT | m.8993T= | CA2499566036 | MT-ATP6 | c.467T= (p.Leu156=) | |
| MT | m.8993_8994delinsCA | CA915952057 | MT-ATP6 | c.467_468delinsCA (p.Leu156Pro) | ClinVar |
| MT | m.8994G>A | CA337098137 | MT-ATP6 | c.468G>A (p.Leu156=) | dbSNP |
| MT | m.8994G>C | CA913180986 | MT-ATP6 | c.468G>C (p.Leu156=) | |
| MT | m.8994G= | CA2499566037 | MT-ATP6 | c.468G= (p.Leu156=) | |
| MT | m.8994G>T | CA913180988 | MT-ATP6 | c.468G>T (p.Leu156=) | dbSNP |
| MT | m.8995G>A | CA414801793 | MT-ATP6 | c.469G>A (p.Ala157Thr) | dbSNP |
| MT | m.8995G>C | CA414801795 | MT-ATP6 | c.469G>C (p.Ala157Pro) | dbSNP COSMIC COSMIC |
| MT | m.8995G= | CA2499566038 | MT-ATP6 | c.469G= (p.Ala157=) | |
| MT | m.8995G>T | CA414801796 | MT-ATP6 | c.469G>T (p.Ala157Ser) | |
| MT | m.8996C>A | CA414801799 | MT-ATP6 | c.470C>A (p.Ala157Asp) | |
| MT | m.8996C= | CA2573330746 | MT-ATP6 | c.470C= (p.Ala157=) | |
| MT | m.8996C>G | CA414801800 | MT-ATP6 | c.470C>G (p.Ala157Gly) | |
| MT | m.8996C>T | CA414801802 | MT-ATP6 | c.470C>T (p.Ala157Val) | |
| MT | m.8997C>A | CA913180996 | MT-ATP6 | c.471C>A (p.Ala157=) | |
| MT | m.8997C= | CA2573330753 | MT-ATP6 | c.471C= (p.Ala157=) | |
| MT | m.8997C>G | CA913180993 | MT-ATP6 | c.471C>G (p.Ala157=) | |
| MT | m.8997C>T | CA913180995 | MT-ATP6 | c.471C>T (p.Ala157=) | |
| MT | m.8998G>A | CA337098139 | MT-ATP6 | c.472G>A (p.Val158Ile) | ClinVar dbSNP |
| MT | m.8998G>C | CA414801805 | MT-ATP6 | c.472G>C (p.Val158Leu) | |
| MT | m.8998G= | CA2499566039 | MT-ATP6 | c.472G= (p.Val158=) | |
| MT | m.8998G>T | CA414801807 | MT-ATP6 | c.472G>T (p.Val158Leu) | |
| MT | m.8999T>A | CA414801809 | MT-ATP6 | c.473T>A (p.Val158Glu) | |
| MT | m.8999T>C | CA414801811 | MT-ATP6 | c.473T>C (p.Val158Ala) | ClinVar dbSNP |
| MT | m.8999T>G | CA414801813 | MT-ATP6 | c.473T>G (p.Val158Gly) | |
| MT | m.8999T= | CA2499566040 | MT-ATP6 | c.473T= (p.Val158=) | |
| MT | m.9000A= | CA2499566041 | MT-ATP6 | c.474A= (p.Val158=) | |
| MT | m.9000A>C | CA913180998 | MT-ATP6 | c.474A>C (p.Val158=) | |
| MT | m.9000A>G | CA913181000 | MT-ATP6 | c.474A>G (p.Val158=) | dbSNP |
| MT | m.9000A>T | CA913180999 | MT-ATP6 | c.474A>T (p.Val158=) | |
| MT | m.9001C>A | CA414801818 | MT-ATP6 | c.475C>A (p.Arg159Ser) | |
| MT | m.9001C= | CA2573330767 | MT-ATP6 | c.475C= (p.Arg159=) | |
| MT | m.9001C>G | CA414801817 | MT-ATP6 | c.475C>G (p.Arg159Gly) | |
| MT | m.9001C>T | CA414801816 | MT-ATP6 | c.475C>T (p.Arg159Cys) | |
| MT | m.9002G>A | CA414801823 | MT-ATP6 | c.476G>A (p.Arg159His) | dbSNP |
| MT | m.9002G>C | CA414801821 | MT-ATP6 | c.476G>C (p.Arg159Pro) | |
| MT | m.9002G= | CA2573330768 | MT-ATP6 | c.476G= (p.Arg159=) | |
| MT | m.9002G>T | CA414801824 | MT-ATP6 | c.476G>T (p.Arg159Leu) | |
| MT | m.9003C>A | CA913181006 | MT-ATP6 | c.477C>A (p.Arg159=) | |
| MT | m.9003C= | CA2573330769 | MT-ATP6 | c.477C= (p.Arg159=) | |
| MT | m.9003C>G | CA913181005 | MT-ATP6 | c.477C>G (p.Arg159=) | |
| MT | m.9003C>T | CA913181004 | MT-ATP6 | c.477C>T (p.Arg159=) | |
| MT | m.9004C>A | CA414801826 | MT-ATP6 | c.478C>A (p.Leu160Ile) | |
| MT | m.9004C= | CA2499566042 | MT-ATP6 | c.478C= (p.Leu160=) | |
| MT | m.9004C>G | CA414801828 | MT-ATP6 | c.478C>G (p.Leu160Val) | |
| MT | m.9004C>T | CA913181007 | MT-ATP6 | c.478C>T (p.Leu160=) | dbSNP |
| MT | m.9005T>A | CA414801830 | MT-ATP6 | c.479T>A (p.Leu160Gln) | |
| MT | m.9005T>C | CA414801832 | MT-ATP6 | c.479T>C (p.Leu160Pro) | ClinVar dbSNP |
| MT | m.9005T>G | CA414801834 | MT-ATP6 | c.479T>G (p.Leu160Arg) | |
| MT | m.9005T= | CA2499566043 | MT-ATP6 | c.479T= (p.Leu160=) | |
| MT | m.9006A= | CA2499566044 | MT-ATP6 | c.480A= (p.Leu160=) | |
| MT | m.9006A>C | CA913181009 | MT-ATP6 | c.480A>C (p.Leu160=) | |
| MT | m.9006A>G | CA658653722 | MT-ATP6 | c.480A>G (p.Leu160=) | ClinVar dbSNP |
| MT | m.9006A>T | CA913181010 | MT-ATP6 | c.480A>T (p.Leu160=) | |
| MT | m.9007A= | CA2499566045 | MT-ATP6 | c.481A= (p.Thr161=) | |
| MT | m.9007A>C | CA414801840 | MT-ATP6 | c.481A>C (p.Thr161Pro) | |
| MT | m.9007A>G | CA414801839 | MT-ATP6 | c.481A>G (p.Thr161Ala) | ClinVar dbSNP |
| MT | m.9007A>T | CA414801836 | MT-ATP6 | c.481A>T (p.Thr161Ser) | ClinVar dbSNP |
| MT | m.9008C>A | CA414801842 | MT-ATP6 | c.482C>A (p.Thr161Asn) | |
| MT | m.9008C= | CA2573330773 | MT-ATP6 | c.482C= (p.Thr161=) | |
| MT | m.9008C>G | CA414801844 | MT-ATP6 | c.482C>G (p.Thr161Ser) | |
| MT | m.9008C>T | CA414801846 | MT-ATP6 | c.482C>T (p.Thr161Ile) | |
| MT | m.9009C>A | CA913181015 | MT-ATP6 | c.483C>A (p.Thr161=) | |
| MT | m.9009C= | CA2573330776 | MT-ATP6 | c.483C= (p.Thr161=) | |
| MT | m.9009C>G | CA913181017 | MT-ATP6 | c.483C>G (p.Thr161=) | |
| MT | m.9009C>T | CA913181018 | MT-ATP6 | c.483C>T (p.Thr161=) | |
| MT | m.9010G>A | CA414801848 | MT-ATP6 | c.484G>A (p.Ala162Thr) | ClinVar dbSNP |
| MT | m.9010G>C | CA414801850 | MT-ATP6 | c.484G>C (p.Ala162Pro) | |
| MT | m.9010G= | CA2499566046 | MT-ATP6 | c.484G= (p.Ala162=) | |
| MT | m.9010G>T | CA414801852 | MT-ATP6 | c.484G>T (p.Ala162Ser) | |
| MT | m.9011C>A | CA414801854 | MT-ATP6 | c.485C>A (p.Ala162Asp) | |
| MT | m.9011C= | CA2499566047 | MT-ATP6 | c.485C= (p.Ala162=) | |
| MT | m.9011C>G | CA414801858 | MT-ATP6 | c.485C>G (p.Ala162Gly) | |
| MT | m.9011C>T | CA414801856 | MT-ATP6 | c.485C>T (p.Ala162Val) | dbSNP |
| MT | m.9012T>A | CA913181022 | MT-ATP6 | c.486T>A (p.Ala162=) | |
| MT | m.9012T>C | CA913181021 | MT-ATP6 | c.486T>C (p.Ala162=) | dbSNP |
| MT | m.9012T>G | CA913181023 | MT-ATP6 | c.486T>G (p.Ala162=) | |
| MT | m.9012T= | CA2499566048 | MT-ATP6 | c.486T= (p.Ala162=) | |
| MT | m.9013A= | CA2573330785 | MT-ATP6 | c.487A= (p.Asn163=) | |
| MT | m.9013A>C | CA414801859 | MT-ATP6 | c.487A>C (p.Asn163His) | |
| MT | m.9013A>G | CA414801861 | MT-ATP6 | c.487A>G (p.Asn163Asp) | |
| MT | m.9013A>T | CA414801863 | MT-ATP6 | c.487A>T (p.Asn163Tyr) | |
| MT | m.9014A= | CA2499566049 | MT-ATP6 | c.488A= (p.Asn163=) | |
| MT | m.9014A>C | CA414801865 | MT-ATP6 | c.488A>C (p.Asn163Thr) | |
| MT | m.9014A>G | CA414801867 | MT-ATP6 | c.488A>G (p.Asn163Ser) | ClinVar dbSNP |
| MT | m.9014A>T | CA414801869 | MT-ATP6 | c.488A>T (p.Asn163Ile) | |
| MT | m.9015C>A | CA414801871 | MT-ATP6 | c.489C>A (p.Asn163Lys) | |
| MT | m.9015C= | CA2499566050 | MT-ATP6 | c.489C= (p.Asn163=) | |
| MT | m.9015C>G | CA414801873 | MT-ATP6 | c.489C>G (p.Asn163Lys) | |
| MT | m.9015C>T | CA913181025 | MT-ATP6 | c.489C>T (p.Asn163=) | dbSNP |
| MT | m.9016A= | CA2499566051 | MT-ATP6 | c.490A= (p.Ile164=) | |
| MT | m.9016A>C | CA414801874 | MT-ATP6 | c.490A>C (p.Ile164Leu) | |
| MT | m.9016A>G | CA414801876 | MT-ATP6 | c.490A>G (p.Ile164Val) | ClinVar dbSNP |
| MT | m.9016A>T | CA414801878 | MT-ATP6 | c.490A>T (p.Ile164Phe) | |
| MT | m.9017T>A | CA414801881 | MT-ATP6 | c.491T>A (p.Ile164Asn) | |
| MT | m.9017T>C | CA414801885 | MT-ATP6 | c.491T>C (p.Ile164Thr) | dbSNP |
| MT | m.9017T>G | CA414801883 | MT-ATP6 | c.491T>G (p.Ile164Ser) | |
| MT | m.9017T= | CA2499566052 | MT-ATP6 | c.491T= (p.Ile164=) | |
| MT | m.9018T>A | CA913181032 | MT-ATP6 | c.492T>A (p.Ile164=) | |
| MT | m.9018T>C | CA337098142 | MT-ATP6 | c.492T>C (p.Ile164=) | dbSNP |
| MT | m.9018T>G | CA414801887 | MT-ATP6 | c.492T>G (p.Ile164Met) | |
| MT | m.9018T= | CA2499566053 | MT-ATP6 | c.492T= (p.Ile164=) | |
| MT | m.9019A= | CA2499566054 | MT-ATP6 | c.493A= (p.Thr165=) | |
| MT | m.9019A>C | CA414801890 | MT-ATP6 | c.493A>C (p.Thr165Pro) | |
| MT | m.9019A>G | CA414801891 | MT-ATP6 | c.493A>G (p.Thr165Ala) | ClinVar dbSNP |
| MT | m.9019A>T | CA414801893 | MT-ATP6 | c.493A>T (p.Thr165Ser) | |
| MT | m.9020C>A | CA414801896 | MT-ATP6 | c.494C>A (p.Thr165Asn) | |
| MT | m.9020C= | CA2573330809 | MT-ATP6 | c.494C= (p.Thr165=) | |
| MT | m.9020C>G | CA414801897 | MT-ATP6 | c.494C>G (p.Thr165Ser) | |
| MT | m.9020C>T | CA414801899 | MT-ATP6 | c.494C>T (p.Thr165Ile) | |
| MT | m.9021T>A | CA913181040 | MT-ATP6 | c.495T>A (p.Thr165=) | |
| MT | m.9021T>C | CA913181039 | MT-ATP6 | c.495T>C (p.Thr165=) | |
| MT | m.9021T>G | CA913181036 | MT-ATP6 | c.495T>G (p.Thr165=) | |
| MT | m.9021T= | CA2573330811 | MT-ATP6 | c.495T= (p.Thr165=) | |
| MT | m.9022G>A | CA414801902 | MT-ATP6 | c.496G>A (p.Ala166Thr) | dbSNP |
| MT | m.9022G>C | CA414801903 | MT-ATP6 | c.496G>C (p.Ala166Pro) | |
| MT | m.9022G= | CA2499566055 | MT-ATP6 | c.496G= (p.Ala166=) | |
| MT | m.9022G>T | CA414801904 | MT-ATP6 | c.496G>T (p.Ala166Ser) | |
| MT | m.9023C>A | CA414801910 | MT-ATP6 | c.497C>A (p.Ala166Glu) | |
| MT | m.9023C= | CA2573330819 | MT-ATP6 | c.497C= (p.Ala166=) | |
| MT | m.9023C>G | CA414801909 | MT-ATP6 | c.497C>G (p.Ala166Gly) | |
| MT | m.9023C>T | CA414801907 | MT-ATP6 | c.497C>T (p.Ala166Val) | |
| MT | m.9024A= | CA2499566056 | MT-ATP6 | c.498A= (p.Ala166=) | |
| MT | m.9024A>C | CA913181044 | MT-ATP6 | c.498A>C (p.Ala166=) | |
| MT | m.9024A>G | CA913181043 | MT-ATP6 | c.498A>G (p.Ala166=) | dbSNP |
| MT | m.9024A>T | CA913181045 | MT-ATP6 | c.498A>T (p.Ala166=) | |
| MT | m.9025G>A | CA337098144 | MT-ATP6 | c.499G>A (p.Gly167Ser) | ClinVar dbSNP |
| MT | m.9025G>C | CA414801913 | MT-ATP6 | c.499G>C (p.Gly167Arg) | |
| MT | m.9025G= | CA2499566057 | MT-ATP6 | c.499G= (p.Gly167=) | |
| MT | m.9025G>T | CA414801915 | MT-ATP6 | c.499G>T (p.Gly167Cys) | |
| MT | m.9026G>A | CA414801916 | MT-ATP6 | c.500G>A (p.Gly167Asp) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.9026G>C | CA414801918 | MT-ATP6 | c.500G>C (p.Gly167Ala) | |
| MT | m.9026G= | CA2499566058 | MT-ATP6 | c.500G= (p.Gly167=) | |
| MT | m.9026G>T | CA414801920 | MT-ATP6 | c.500G>T (p.Gly167Val) | |
| MT | m.9027C>A | CA913181052 | MT-ATP6 | c.501C>A (p.Gly167=) | |
| MT | m.9027C= | CA2573330828 | MT-ATP6 | c.501C= (p.Gly167=) | |
| MT | m.9027C>G | CA913181049 | MT-ATP6 | c.501C>G (p.Gly167=) | |
| MT | m.9027C>T | CA913181046 | MT-ATP6 | c.501C>T (p.Gly167=) | |
| MT | m.9028C>A | CA414801922 | MT-ATP6 | c.502C>A (p.His168Asn) | |
| MT | m.9028C= | CA2499566059 | MT-ATP6 | c.502C= (p.His168=) | |
| MT | m.9028C>G | CA414801924 | MT-ATP6 | c.502C>G (p.His168Asp) | |
| MT | m.9028C>T | CA414801926 | MT-ATP6 | c.502C>T (p.His168Tyr) | ClinVar dbSNP |
| MT | m.9029A= | CA2499566060 | MT-ATP6 | c.503A= (p.His168=) | |
| MT | m.9029A>C | CA414801928 | MT-ATP6 | c.503A>C (p.His168Pro) | |
| MT | m.9029A>G | CA414801930 | MT-ATP6 | c.503A>G (p.His168Arg) | ClinVar dbSNP |
| MT | m.9029A>T | CA414801932 | MT-ATP6 | c.503A>T (p.His168Leu) | |
| MT | m.9030C>A | CA414801933 | MT-ATP6 | c.504C>A (p.His168Gln) | |
| MT | m.9030C= | CA2573320920 | MT-ATP6 | c.504C= (p.His168=) | |
| MT | m.9030C>G | CA414801936 | MT-ATP6 | c.504C>G (p.His168Gln) | |
| MT | m.9030C>T | CA913181056 | MT-ATP6 | c.504C>T (p.His168=) | |
| MT | m.9031C>A | CA414801938 | MT-ATP6 | c.505C>A (p.Leu169Ile) | |
| MT | m.9031C= | CA2499566061 | MT-ATP6 | c.505C= (p.Leu169=) | |
| MT | m.9031C>G | CA414801940 | MT-ATP6 | c.505C>G (p.Leu169Val) | |
| MT | m.9031C>T | CA913181060 | MT-ATP6 | c.505C>T (p.Leu169=) | dbSNP |
| MT | m.9032T>A | CA414801942 | MT-ATP6 | c.506T>A (p.Leu169Gln) | |
| MT | m.9032T>C | CA414801944 | MT-ATP6 | c.506T>C (p.Leu169Pro) | ClinVar dbSNP |
| MT | m.9032T>G | CA414801946 | MT-ATP6 | c.506T>G (p.Leu169Arg) | |
| MT | m.9032T= | CA2499566062 | MT-ATP6 | c.506T= (p.Leu169=) | |
| MT | m.9033A= | CA2499566063 | MT-ATP6 | c.507A= (p.Leu169=) | |
| MT | m.9033A>C | CA913181064 | MT-ATP6 | c.507A>C (p.Leu169=) | |
| MT | m.9033A>G | CA913181062 | MT-ATP6 | c.507A>G (p.Leu169=) | dbSNP |
| MT | m.9033A>T | CA913181061 | MT-ATP6 | c.507A>T (p.Leu169=) | |
| MT | m.9034C>A | CA414801948 | MT-ATP6 | c.508C>A (p.Leu170Ile) | dbSNP |
| MT | m.9034C= | CA2499566064 | MT-ATP6 | c.508C= (p.Leu170=) | |
| MT | m.9034C>G | CA414801949 | MT-ATP6 | c.508C>G (p.Leu170Val) | |
| MT | m.9034C>T | CA414801951 | MT-ATP6 | c.508C>T (p.Leu170Phe) | dbSNP |
| MT | m.9035T>A | CA414801954 | MT-ATP6 | c.509T>A (p.Leu170His) | |
| MT | m.9035T>C | CA414801955 | MT-ATP6 | c.509T>C (p.Leu170Pro) | ClinVar dbSNP |
| MT | m.9035T>G | CA414801957 | MT-ATP6 | c.509T>G (p.Leu170Arg) | |
| MT | m.9035T= | CA2499566065 | MT-ATP6 | c.509T= (p.Leu170=) | |
| MT | m.9036C>A | CA913181070 | MT-ATP6 | c.510C>A (p.Leu170=) | |
| MT | m.9036C= | CA2573320961 | MT-ATP6 | c.510C= (p.Leu170=) | |
| MT | m.9036C>G | CA913181069 | MT-ATP6 | c.510C>G (p.Leu170=) | |
| MT | m.9036C>T | CA913181068 | MT-ATP6 | c.510C>T (p.Leu170=) | |
| MT | m.9037A= | CA2499566066 | MT-ATP6 | c.511A= (p.Met171=) | |
| MT | m.9037A>C | CA414801959 | MT-ATP6 | c.511A>C (p.Met171Leu) | |
| MT | m.9037A>G | CA414801961 | MT-ATP6 | c.511A>G (p.Met171Val) | dbSNP |
| MT | m.9037A>T | CA414801963 | MT-ATP6 | c.511A>T (p.Met171Leu) | |
| MT | m.9038T>A | CA414801966 | MT-ATP6 | c.512T>A (p.Met171Lys) | |
| MT | m.9038T>C | CA414801969 | MT-ATP6 | c.512T>C (p.Met171Thr) | ClinVar dbSNP |
| MT | m.9038T>G | CA414801968 | MT-ATP6 | c.512T>G (p.Met171Arg) | |
| MT | m.9038T= | CA2499566067 | MT-ATP6 | c.512T= (p.Met171=) | |
| MT | m.9039G>A | CA414801972 | MT-ATP6 | c.513G>A (p.Met171Ile) | dbSNP |
| MT | m.9039G>C | CA414801973 | MT-ATP6 | c.513G>C (p.Met171Ile) | |
| MT | m.9039G= | CA2499566068 | MT-ATP6 | c.513G= (p.Met171=) | |
| MT | m.9039G>T | CA414801975 | MT-ATP6 | c.513G>T (p.Met171Ile) | |
| MT | m.9040C>A | CA414801977 | MT-ATP6 | c.514C>A (p.His172Asn) | |
| MT | m.9040C= | CA2573320991 | MT-ATP6 | c.514C= (p.His172=) | |
| MT | m.9040C>G | CA414801979 | MT-ATP6 | c.514C>G (p.His172Asp) | |
| MT | m.9040C>T | CA414801980 | MT-ATP6 | c.514C>T (p.His172Tyr) | |
| MT | m.9041A= | CA2499566069 | MT-ATP6 | c.515A= (p.His172=) | |
| MT | m.9041A>C | CA414801984 | MT-ATP6 | c.515A>C (p.His172Pro) | |
| MT | m.9041A>G | CA337098147 | MT-ATP6 | c.515A>G (p.His172Arg) | ClinVar dbSNP |
| MT | m.9041A>T | CA414801986 | MT-ATP6 | c.515A>T (p.His172Leu) | |
| MT | m.9042C>A | CA414801990 | MT-ATP6 | c.516C>A (p.His172Gln) | |
| MT | m.9042C= | CA2499566070 | MT-ATP6 | c.516C= (p.His172=) | |
| MT | m.9042C>G | CA414801991 | MT-ATP6 | c.516C>G (p.His172Gln) | |
| MT | m.9042C>T | CA337098151 | MT-ATP6 | c.516C>T (p.His172=) | dbSNP |
| MT | m.9043C>A | CA414801993 | MT-ATP6 | c.517C>A (p.Leu173Ile) | |
| MT | m.9043C= | CA2573321008 | MT-ATP6 | c.517C= (p.Leu173=) | |
| MT | m.9043C>G | CA414801995 | MT-ATP6 | c.517C>G (p.Leu173Val) | |
| MT | m.9043C>T | CA645611400 | MT-ATP6 | c.517C>T (p.Leu173=) | dbSNP COSMIC COSMIC |
| MT | m.9044T>A | CA414801997 | MT-ATP6 | c.518T>A (p.Leu173Gln) | |
| MT | m.9044T>C | CA414801998 | MT-ATP6 | c.518T>C (p.Leu173Pro) | |
| MT | m.9044T>G | CA414802001 | MT-ATP6 | c.518T>G (p.Leu173Arg) | |
| MT | m.9044T= | CA2573321019 | MT-ATP6 | c.518T= (p.Leu173=) | |
| MT | m.9045A= | CA2573321024 | MT-ATP6 | c.519A= (p.Leu173=) | |
| MT | m.9045A>C | CA913181081 | MT-ATP6 | c.519A>C (p.Leu173=) | |
| MT | m.9045A>G | CA913181080 | MT-ATP6 | c.519A>G (p.Leu173=) | |
| MT | m.9045A>T | CA913181079 | MT-ATP6 | c.519A>T (p.Leu173=) | |
| MT | m.9046A= | CA2573321029 | MT-ATP6 | c.520A= (p.Ile174=) | |
| MT | m.9046A>C | CA414802006 | MT-ATP6 | c.520A>C (p.Ile174Leu) | |
| MT | m.9046A>G | CA414802002 | MT-ATP6 | c.520A>G (p.Ile174Val) | |
| MT | m.9046A>T | CA414802004 | MT-ATP6 | c.520A>T (p.Ile174Phe) | |
| MT | m.9047T>A | CA414802008 | MT-ATP6 | c.521T>A (p.Ile174Asn) | |
| MT | m.9047T>C | CA414802010 | MT-ATP6 | c.521T>C (p.Ile174Thr) | ClinVar dbSNP |
| MT | m.9047T>G | CA414802012 | MT-ATP6 | c.521T>G (p.Ile174Ser) | |
| MT | m.9047T= | CA2499566071 | MT-ATP6 | c.521T= (p.Ile174=) | |
| MT | m.9048T>A | CA337098153 | MT-ATP6 | c.522T>A (p.Ile174=) | |
| MT | m.9048T>C | CA913181086 | MT-ATP6 | c.522T>C (p.Ile174=) | dbSNP |
| MT | m.9048T>G | CA337098156 | MT-ATP6 | c.522T>G (p.Ile174Met) | |
| MT | m.9048T= | CA2499566072 | MT-ATP6 | c.522T= (p.Ile174=) | |
| MT | m.9049G>A | CA414802017 | MT-ATP6 | c.523G>A (p.Gly175Arg) | ClinVar dbSNP |
| MT | m.9049G>C | CA414802021 | MT-ATP6 | c.523G>C (p.Gly175Arg) | |
| MT | m.9049G= | CA2499566073 | MT-ATP6 | c.523G= (p.Gly175=) | |
| MT | m.9049G>T | CA414802019 | MT-ATP6 | c.523G>T (p.Gly175Ter) | |
| MT | m.9050del | CA2573105023 | MT-ATP6 | c.524del (p.Gly175GlufsTer5) | |
| MT | m.9050G>A | CA414802022 | MT-ATP6 | c.524G>A (p.Gly175Glu) | dbSNP |
| MT | m.9050G>C | CA414802024 | MT-ATP6 | c.524G>C (p.Gly175Ala) | |
| MT | m.9050G= | CA2513607391 | MT-ATP6 | c.524G= (p.Gly175=) | |
| MT | m.9050G>T | CA414802026 | MT-ATP6 | c.524G>T (p.Gly175Val) | |
| MT | m.9051A= | CA2573321061 | MT-ATP6 | c.525A= (p.Gly175=) | |
| MT | m.9051A>C | CA913181096 | MT-ATP6 | c.525A>C (p.Gly175=) | |
| MT | m.9051A>G | CA913181095 | MT-ATP6 | c.525A>G (p.Gly175=) | dbSNP |
| MT | m.9051A>T | CA913181094 | MT-ATP6 | c.525A>T (p.Gly175=) | |
| MT | m.9052A= | CA2499566074 | MT-ATP6 | c.526A= (p.Ser176=) | |
| MT | m.9052A>C | CA414802028 | MT-ATP6 | c.526A>C (p.Ser176Arg) | |
| MT | m.9052A>G | CA414802029 | MT-ATP6 | c.526A>G (p.Ser176Gly) | ClinVar dbSNP |
| MT | m.9052A>T | CA414802031 | MT-ATP6 | c.526A>T (p.Ser176Cys) | |
| MT | m.9053G>A | CA337098159 | MT-ATP6 | c.527G>A (p.Ser176Asn) | ClinVar dbSNP |
| MT | m.9053G>C | CA414802034 | MT-ATP6 | c.527G>C (p.Ser176Thr) | dbSNP |
| MT | m.9053G= | CA2499566075 | MT-ATP6 | c.527G= (p.Ser176=) | |
| MT | m.9053G>T | CA414802036 | MT-ATP6 | c.527G>T (p.Ser176Ile) | |
| MT | m.9054C>A | CA414802038 | MT-ATP6 | c.528C>A (p.Ser176Arg) | |
| MT | m.9054C= | CA2573321072 | MT-ATP6 | c.528C= (p.Ser176=) | |
| MT | m.9054C>G | CA414802039 | MT-ATP6 | c.528C>G (p.Ser176Arg) | |
| MT | m.9054C>T | CA913181099 | MT-ATP6 | c.528C>T (p.Ser176=) | |
| MT | m.9055G>A | CA337098169 | MT-ATP6 | c.529G>A (p.Ala177Thr) | ClinVar dbSNP |
| MT | m.9055G>C | CA337098166 | MT-ATP6 | c.529G>C (p.Ala177Pro) | |
| MT | m.9055G= | CA2499566076 | MT-ATP6 | c.529G= (p.Ala177=) | |
| MT | m.9055G>T | CA337098163 | MT-ATP6 | c.529G>T (p.Ala177Ser) | |
| MT | m.9056C>A | CA414802045 | MT-ATP6 | c.530C>A (p.Ala177Asp) | |
| MT | m.9056C= | CA2499566077 | MT-ATP6 | c.530C= (p.Ala177=) | |
| MT | m.9056C>G | CA414802049 | MT-ATP6 | c.530C>G (p.Ala177Gly) | |
| MT | m.9056C>T | CA414802048 | MT-ATP6 | c.530C>T (p.Ala177Val) | ClinVar dbSNP |
| MT | m.9057C>A | CA913181109 | MT-ATP6 | c.531C>A (p.Ala177=) | |
| MT | m.9057C= | CA2573321080 | MT-ATP6 | c.531C= (p.Ala177=) | |
| MT | m.9057C>G | CA913181108 | MT-ATP6 | c.531C>G (p.Ala177=) | |
| MT | m.9057C>T | CA913181106 | MT-ATP6 | c.531C>T (p.Ala177=) | |
| MT | m.9058A= | CA2499566078 | MT-ATP6 | c.532A= (p.Thr178=) | |
| MT | m.9058A>C | CA414802051 | MT-ATP6 | c.532A>C (p.Thr178Pro) | ClinVar dbSNP |
| MT | m.9058A>G | CA414802055 | MT-ATP6 | c.532A>G (p.Thr178Ala) | ClinVar dbSNP |
| MT | m.9058A>T | CA414802053 | MT-ATP6 | c.532A>T (p.Thr178Ser) | |
| MT | m.9059C>A | CA414802057 | MT-ATP6 | c.533C>A (p.Thr178Asn) | |
| MT | m.9059C= | CA2573321087 | MT-ATP6 | c.533C= (p.Thr178=) | |
| MT | m.9059C>G | CA414802059 | MT-ATP6 | c.533C>G (p.Thr178Ser) | |
| MT | m.9059C>T | CA414802060 | MT-ATP6 | c.533C>T (p.Thr178Ile) | |
| MT | m.9060C>A | CA913181112 | MT-ATP6 | c.534C>A (p.Thr178=) | |
| MT | m.9060C= | CA2573321088 | MT-ATP6 | c.534C= (p.Thr178=) | |
| MT | m.9060C>G | CA913181111 | MT-ATP6 | c.534C>G (p.Thr178=) | |
| MT | m.9060C>T | CA913181110 | MT-ATP6 | c.534C>T (p.Thr178=) | |
| MT | m.9061C>A | CA414802063 | MT-ATP6 | c.535C>A (p.Leu179Ile) | |
| MT | m.9061C= | CA2499566079 | MT-ATP6 | c.535C= (p.Leu179=) | |
| MT | m.9061C>G | CA414802065 | MT-ATP6 | c.535C>G (p.Leu179Val) | |
| MT | m.9061C>T | CA337098172 | MT-ATP6 | c.535C>T (p.Leu179=) | dbSNP |
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.9062T>A | CA414802068 | MT-ATP6 | c.536T>A (p.Leu179Gln) | |
| MT | m.9062T>C | CA414802069 | MT-ATP6 | c.536T>C (p.Leu179Pro) | COSMIC COSMIC |
| MT | m.9062T>G | CA414802071 | MT-ATP6 | c.536T>G (p.Leu179Arg) | |
| MT | m.9062T= | CA2573321089 | MT-ATP6 | c.536T= (p.Leu179=) | |
| MT | m.9063A= | CA2499566080 | MT-ATP6 | c.537A= (p.Leu179=) | |
| MT | m.9063A>C | CA913181116 | MT-ATP6 | c.537A>C (p.Leu179=) | |
| MT | m.9063A>G | CA337098173 | MT-ATP6 | c.537A>G (p.Leu179=) | dbSNP |
| MT | m.9063A>T | CA913181115 | MT-ATP6 | c.537A>T (p.Leu179=) | |
| MT | m.9064G>A | CA337098175 | MT-ATP6 | c.538G>A (p.Ala180Thr) | ClinVar dbSNP |
| MT | m.9064G>C | CA337098177 | MT-ATP6 | c.538G>C (p.Ala180Pro) | |
| MT | m.9064G= | CA2499566081 | MT-ATP6 | c.538G= (p.Ala180=) | |
| MT | m.9064G>T | CA337098180 | MT-ATP6 | c.538G>T (p.Ala180Ser) | |
| MT | m.9065C>A | CA414802078 | MT-ATP6 | c.539C>A (p.Ala180Glu) | |
| MT | m.9065C= | CA2573321106 | MT-ATP6 | c.539C= (p.Ala180=) | |
| MT | m.9065C>G | CA414802080 | MT-ATP6 | c.539C>G (p.Ala180Gly) | |
| MT | m.9065C>T | CA414802081 | MT-ATP6 | c.539C>T (p.Ala180Val) | |
| MT | m.9066A= | CA2499566082 | MT-ATP6 | c.540A= (p.Ala180=) | |
| MT | m.9066A>C | CA913181122 | MT-ATP6 | c.540A>C (p.Ala180=) | |
| MT | m.9066A>G | CA913181119 | MT-ATP6 | c.540A>G (p.Ala180=) | dbSNP |
| MT | m.9066A>T | CA913181121 | MT-ATP6 | c.540A>T (p.Ala180=) | |
| MT | m.9067A= | CA2499566083 | MT-ATP6 | c.541A= (p.Ile181=) | |
| MT | m.9067A>C | CA414802084 | MT-ATP6 | c.541A>C (p.Ile181Leu) | |
| MT | m.9067A>G | CA414802085 | MT-ATP6 | c.541A>G (p.Ile181Val) | ClinVar dbSNP |
| MT | m.9067A>T | CA414802087 | MT-ATP6 | c.541A>T (p.Ile181Leu) | |
| MT | m.9068T>A | CA414802089 | MT-ATP6 | c.542T>A (p.Ile181Lys) | |
| MT | m.9068T>C | CA414802091 | MT-ATP6 | c.542T>C (p.Ile181Thr) | dbSNP |
| MT | m.9068T>G | CA414802093 | MT-ATP6 | c.542T>G (p.Ile181Arg) | |
| MT | m.9068T= | CA2499566084 | MT-ATP6 | c.542T= (p.Ile181=) |