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.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.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.11887G>A | CA913169018 | MT-ND4 | c.1128G>A (p.Leu376=) | dbSNP |
| MT | m.11887G>C | CA913169015 | MT-ND4 | c.1128G>C (p.Leu376=) | |
| MT | m.11887G= | CA2499567316 | MT-ND4 | c.1128G= (p.Leu376=) | |
| MT | m.11887G>T | CA913169017 | MT-ND4 | c.1128G>T (p.Leu376=) | |
| MT | m.11888G>A | CA414811537 | MT-ND4 | c.1129G>A (p.Gly377Arg) | dbSNP |
| MT | m.11888G>C | CA414811536 | MT-ND4 | c.1129G>C (p.Gly377Arg) | |
| MT | m.11888G= | CA2499567317 | MT-ND4 | c.1129G= (p.Gly377=) | |
| MT | m.11888G>T | CA414811534 | MT-ND4 | c.1129G>T (p.Gly377Ter) | |
| MT | m.11889G>A | CA414811540 | MT-ND4 | c.1130G>A (p.Gly377Glu) | |
| MT | m.11889G>C | CA414811543 | MT-ND4 | c.1130G>C (p.Gly377Ala) | |
| MT | m.11889G= | CA2573328514 | MT-ND4 | c.1130G= (p.Gly377=) | |
| MT | m.11889G>T | CA414811541 | MT-ND4 | c.1130G>T (p.Gly377Val) | |
| MT | m.11889_11920del | CA2740098353 | MT-ND4 | c.1130_1161del (p.Gly377ValfsTer?) | |
| MT | m.11890A= | CA2573328515 | MT-ND4 | c.1131A= (p.Gly377=) | |
| MT | m.11890A>C | CA913169024 | MT-ND4 | c.1131A>C (p.Gly377=) | |
| MT | m.11890A>G | CA913169019 | MT-ND4 | c.1131A>G (p.Gly377=) | |
| MT | m.11890A>T | CA913169020 | MT-ND4 | c.1131A>T (p.Gly377=) | |
| MT | m.11891G>A | CA414811546 | MT-ND4 | c.1132G>A (p.Glu378Lys) | |
| MT | m.11891G>C | CA414811547 | MT-ND4 | c.1132G>C (p.Glu378Gln) | |
| MT | m.11891G= | CA2573328516 | MT-ND4 | c.1132G= (p.Glu378=) | |
| MT | m.11891G>T | CA414811548 | MT-ND4 | c.1132G>T (p.Glu378Ter) | |
| MT | m.11892A= | CA2573328517 | MT-ND4 | c.1133A= (p.Glu378=) | |
| MT | m.11892A>C | CA414811551 | MT-ND4 | c.1133A>C (p.Glu378Ala) | |
| MT | m.11892A>G | CA414811553 | MT-ND4 | c.1133A>G (p.Glu378Gly) | |
| MT | m.11892A>T | CA414811555 | MT-ND4 | c.1133A>T (p.Glu378Val) | |
| MT | m.11893A= | CA2499567318 | MT-ND4 | c.1134A= (p.Glu378=) | |
| MT | m.11893A>C | CA414811557 | MT-ND4 | c.1134A>C (p.Glu378Asp) | |
| MT | m.11893A>G | CA337099323 | MT-ND4 | c.1134A>G (p.Glu378=) | dbSNP |
| MT | m.11893A>T | CA414811560 | MT-ND4 | c.1134A>T (p.Glu378Asp) | |
| MT | m.11893_11895delinsACT | CA2499567319 | MT-ND4 | c.1134_1136delinsACT (p.Glu378=) | |
| MT | m.11894C>A | CA414811566 | MT-ND4 | c.1135C>A (p.Leu379Ile) | |
| MT | m.11894C= | CA2573328521 | MT-ND4 | c.1135C= (p.Leu379=) | |
| MT | m.11894C>G | CA414811564 | MT-ND4 | c.1135C>G (p.Leu379Val) | |
| MT | m.11894C>T | CA414811562 | MT-ND4 | c.1135C>T (p.Leu379Phe) | |
| MT | m.11898_11899del | CA920603144 | MT-ND4 | c.1139_1140del (p.Ser380CysfsTer?) | dbSNP |
| MT | m.11895T>A | CA414811569 | MT-ND4 | c.1136T>A (p.Leu379His) | |
| MT | m.11895T>C | CA414811571 | MT-ND4 | c.1136T>C (p.Leu379Pro) | |
| MT | m.11895T>G | CA414811572 | MT-ND4 | c.1136T>G (p.Leu379Arg) | |
| MT | m.11895T= | CA2573328522 | MT-ND4 | c.1136T= (p.Leu379=) | |
| MT | m.11896C>A | CA913169041 | MT-ND4 | c.1137C>A (p.Leu379=) | |
| MT | m.11896C= | CA2499567320 | MT-ND4 | c.1137C= (p.Leu379=) | |
| MT | m.11896C>G | CA16040631 | MT-ND4 | c.1137C>G (p.Leu379=) | ClinVar dbSNP |
| MT | m.11896C>T | CA913169039 | MT-ND4 | c.1137C>T (p.Leu379=) | |
| MT | m.11897T>A | CA414811576 | MT-ND4 | c.1138T>A (p.Ser380Thr) | |
| MT | m.11897T>C | CA414811577 | MT-ND4 | c.1138T>C (p.Ser380Pro) | |
| MT | m.11897T>G | CA414811580 | MT-ND4 | c.1138T>G (p.Ser380Ala) | |
| MT | m.11897T= | CA2573328525 | MT-ND4 | c.1138T= (p.Ser380=) | |
| MT | m.11898C>A | CA414811582 | MT-ND4 | c.1139C>A (p.Ser380Tyr) | |
| MT | m.11898C= | CA2513006423 | MT-ND4 | c.1139C= (p.Ser380=) | |
| MT | m.11898C>G | CA414811583 | MT-ND4 | c.1139C>G (p.Ser380Cys) | |
| MT | m.11898C>T | CA414811586 | MT-ND4 | c.1139C>T (p.Ser380Phe) | |
| MT | m.11899T>A | CA913169047 | MT-ND4 | c.1140T>A (p.Ser380=) | |
| MT | m.11899T>C | CA10581275 | MT-ND4 | c.1140T>C (p.Ser380=) | ClinVar dbSNP |
| MT | m.11899T>G | CA913169045 | MT-ND4 | c.1140T>G (p.Ser380=) | |
| MT | m.11899T= | CA2499567321 | MT-ND4 | c.1140T= (p.Ser380=) | |
| MT | m.11900G>A | CA414811592 | MT-ND4 | c.1141G>A (p.Val381Met) | dbSNP COSMIC |
| MT | m.11900G>C | CA337099330 | MT-ND4 | c.1141G>C (p.Val381Leu) | |
| MT | m.11900G= | CA2499567322 | MT-ND4 | c.1141G= (p.Val381=) | |
| MT | m.11900G>T | CA337099328 | MT-ND4 | c.1141G>T (p.Val381Leu) | |
| MT | m.11901T>A | CA414811598 | MT-ND4 | c.1142T>A (p.Val381Glu) | |
| MT | m.11901T>C | CA414811594 | MT-ND4 | c.1142T>C (p.Val381Ala) | |
| MT | m.11901T>G | CA414811596 | MT-ND4 | c.1142T>G (p.Val381Gly) | |
| MT | m.11901T= | CA2573328530 | MT-ND4 | c.1142T= (p.Val381=) | |
| MT | m.11902G>A | CA645611412 | MT-ND4 | c.1143G>A (p.Val381=) | dbSNP COSMIC |
| MT | m.11902G>C | CA913169067 | MT-ND4 | c.1143G>C (p.Val381=) | dbSNP |
| MT | m.11902G= | CA2499567323 | MT-ND4 | c.1143G= (p.Val381=) | |
| MT | m.11902G>T | CA913169066 | MT-ND4 | c.1143G>T (p.Val381=) | |
| MT | m.11903C>A | CA414811600 | MT-ND4 | c.1144C>A (p.Leu382Ile) | |
| MT | m.11903C= | CA2573328532 | MT-ND4 | c.1144C= (p.Leu382=) | |
| MT | m.11903C>G | CA414811602 | MT-ND4 | c.1144C>G (p.Leu382Val) | |
| MT | m.11903C>T | CA913169069 | MT-ND4 | c.1144C>T (p.Leu382=) | dbSNP |
| MT | m.11904T>A | CA414811604 | MT-ND4 | c.1145T>A (p.Leu382Gln) | |
| MT | m.11904T>C | CA414811605 | MT-ND4 | c.1145T>C (p.Leu382Pro) | |
| MT | m.11904T>G | CA414811608 | MT-ND4 | c.1145T>G (p.Leu382Arg) | |
| MT | m.11904T= | CA2573328534 | MT-ND4 | c.1145T= (p.Leu382=) | |
| MT | m.11905A= | CA2573328536 | MT-ND4 | c.1146A= (p.Leu382=) | |
| MT | m.11905A>C | CA913169071 | MT-ND4 | c.1146A>C (p.Leu382=) | |
| MT | m.11905A>G | CA913169072 | MT-ND4 | c.1146A>G (p.Leu382=) | |
| MT | m.11905A>T | CA913169073 | MT-ND4 | c.1146A>T (p.Leu382=) | |
| MT | m.11906G>A | CA414811610 | MT-ND4 | c.1147G>A (p.Val383Ile) | ClinVar dbSNP |
| MT | m.11906G>C | CA414811612 | MT-ND4 | c.1147G>C (p.Val383Leu) | |
| MT | m.11906G= | CA2499567324 | MT-ND4 | c.1147G= (p.Val383=) | |
| MT | m.11906G>T | CA414811614 | MT-ND4 | c.1147G>T (p.Val383Leu) | |
| MT | m.11907T>A | CA414811616 | MT-ND4 | c.1148T>A (p.Val383Glu) | |
| MT | m.11907T>C | CA414811618 | MT-ND4 | c.1148T>C (p.Val383Ala) | dbSNP |
| MT | m.11907T>G | CA414811620 | MT-ND4 | c.1148T>G (p.Val383Gly) | |
| MT | m.11907T= | CA2499567325 | MT-ND4 | c.1148T= (p.Val383=) | |
| MT | m.11908A= | CA2499567326 | MT-ND4 | c.1149A= (p.Val383=) | |
| MT | m.11908A>C | CA913169077 | MT-ND4 | c.1149A>C (p.Val383=) | |
| MT | m.11908A>G | CA337099332 | MT-ND4 | c.1149A>G (p.Val383=) | dbSNP |
| MT | m.11908A>T | CA913169080 | MT-ND4 | c.1149A>T (p.Val383=) | dbSNP |
| MT | m.11909A= | CA2499567327 | MT-ND4 | c.1150A= (p.Thr384=) | |
| MT | m.11909A>C | CA414811624 | MT-ND4 | c.1150A>C (p.Thr384Pro) | |
| MT | m.11909A>G | CA414811626 | MT-ND4 | c.1150A>G (p.Thr384Ala) | dbSNP COSMIC COSMIC |
| MT | m.11909A>T | CA414811628 | MT-ND4 | c.1150A>T (p.Thr384Ser) | |
| MT | m.11910C>A | CA414811630 | MT-ND4 | c.1151C>A (p.Thr384Asn) | |
| MT | m.11910C= | CA2573328546 | MT-ND4 | c.1151C= (p.Thr384=) | |
| MT | m.11910C>G | CA414811632 | MT-ND4 | c.1151C>G (p.Thr384Ser) | |
| MT | m.11910C>T | CA414811634 | MT-ND4 | c.1151C>T (p.Thr384Ile) | |
| MT | m.11911C>A | CA913169085 | MT-ND4 | c.1152C>A (p.Thr384=) | |
| MT | m.11911C= | CA2499567328 | MT-ND4 | c.1152C= (p.Thr384=) | |
| MT | m.11911C>G | CA913169084 | MT-ND4 | c.1152C>G (p.Thr384=) | |
| MT | m.11911C>T | CA913169086 | MT-ND4 | c.1152C>T (p.Thr384=) | dbSNP |
| MT | m.11912A= | CA2573328547 | MT-ND4 | c.1153A= (p.Thr385=) | |
| MT | m.11912A>C | CA414811636 | MT-ND4 | c.1153A>C (p.Thr385Pro) | |
| MT | m.11912A>G | CA414811638 | MT-ND4 | c.1153A>G (p.Thr385Ala) | |
| MT | m.11912A>T | CA414811640 | MT-ND4 | c.1153A>T (p.Thr385Ser) | |
| MT | m.11913C>A | CA414811642 | MT-ND4 | c.1154C>A (p.Thr385Lys) | |
| MT | m.11913C= | CA2499567329 | MT-ND4 | c.1154C= (p.Thr385=) | |
| MT | m.11913C>G | CA414811644 | MT-ND4 | c.1154C>G (p.Thr385Arg) | |
| MT | m.11913C>T | CA414811646 | MT-ND4 | c.1154C>T (p.Thr385Met) | ClinVar dbSNP |
| MT | m.11914G>A | CA337099334 | MT-ND4 | c.1155G>A (p.Thr385=) | dbSNP COSMIC |
| MT | m.11914G>C | CA337099336 | MT-ND4 | c.1155G>C (p.Thr385=) | dbSNP |
| MT | m.11914G= | CA2499567330 | MT-ND4 | c.1155G= (p.Thr385=) | |
| MT | m.11914G>T | CA337099338 | MT-ND4 | c.1155G>T (p.Thr385=) | |
| MT | m.11915T>A | CA414811652 | MT-ND4 | c.1156T>A (p.Phe386Ile) | |
| MT | m.11915T>C | CA414811655 | MT-ND4 | c.1156T>C (p.Phe386Leu) | |
| MT | m.11915T>G | CA414811654 | MT-ND4 | c.1156T>G (p.Phe386Val) | |
| MT | m.11915T= | CA2573328552 | MT-ND4 | c.1156T= (p.Phe386=) | |
| MT | m.11916T>A | CA414811658 | MT-ND4 | c.1157T>A (p.Phe386Tyr) | |
| MT | m.11916T>C | CA414811660 | MT-ND4 | c.1157T>C (p.Phe386Ser) | dbSNP |
| MT | m.11916T>G | CA414811661 | MT-ND4 | c.1157T>G (p.Phe386Cys) | |
| MT | m.11916T= | CA2573328556 | MT-ND4 | c.1157T= (p.Phe386=) | |
| MT | m.11917C>A | CA414811664 | MT-ND4 | c.1158C>A (p.Phe386Leu) | |
| MT | m.11917C= | CA2573328558 | MT-ND4 | c.1158C= (p.Phe386=) | |
| MT | m.11917C>G | CA414811665 | MT-ND4 | c.1158C>G (p.Phe386Leu) | |
| MT | m.11917C>T | CA913169091 | MT-ND4 | c.1158C>T (p.Phe386=) | |
| MT | m.11918T>A | CA414811668 | MT-ND4 | c.1159T>A (p.Ser387Thr) | |
| MT | m.11918T>C | CA414811670 | MT-ND4 | c.1159T>C (p.Ser387Pro) | dbSNP |
| MT | m.11918T>G | CA414811671 | MT-ND4 | c.1159T>G (p.Ser387Ala) | |
| MT | m.11918T= | CA2499567331 | MT-ND4 | c.1159T= (p.Ser387=) | |
| MT | m.11919C>A | CA414811674 | MT-ND4 | c.1160C>A (p.Ser387Tyr) | |
| MT | m.11919C= | CA2573328562 | MT-ND4 | c.1160C= (p.Ser387=) | |
| MT | m.11919C>G | CA414811676 | MT-ND4 | c.1160C>G (p.Ser387Cys) | |
| MT | m.11919C>T | CA414811678 | MT-ND4 | c.1160C>T (p.Ser387Phe) | |
| MT | m.11920C>A | CA913169094 | MT-ND4 | c.1161C>A (p.Ser387=) | |
| MT | m.11920C= | CA2499567332 | MT-ND4 | c.1161C= (p.Ser387=) | |
| MT | m.11920C>G | CA913169092 | MT-ND4 | c.1161C>G (p.Ser387=) | |
| MT | m.11920C>T | CA913169097 | MT-ND4 | c.1161C>T (p.Ser387=) | dbSNP |
| MT | m.11921T>A | CA414811686 | MT-ND4 | c.1162T>A (p.Ter388Arg) | |
| MT | m.11921T>C | CA414811684 | MT-ND4 | c.1162T>C (p.Ter388Arg) | |
| MT | m.11921T>G | CA414811680 | MT-ND4 | c.1162T>G (p.Ter388Gly) | |
| MT | m.11921T= | CA414811683 | MT-ND4 | c.1162T= (p.Ter388=) | |
| MT | m.11922G>A | CA414811688 | MT-ND4 | c.1163G>A (p.Ter388=) | COSMIC |
| MT | m.11922G>C | CA414811690 | MT-ND4 | c.1163G>C (p.Ter388Ser) | |
| MT | m.11922G= | CA414811692 | MT-ND4 | c.1163G= (p.Ter388=) | |
| MT | m.11922G>T | CA414811694 | MT-ND4 | c.1163G>T (p.Ter388Leu) | |
| MT | m.11923A= | CA414811696 | MT-ND4 | c.1164A= (p.Ter388=) | |
| MT | m.11923A>C | CA337099340 | MT-ND4 | c.1164A>C (p.Ter388Cys) | |
| MT | m.11923A>G | CA337099343 | MT-ND4 | c.1164A>G (p.Ter388Trp) | dbSNP |
| MT | m.11923A>T | CA337099344 | MT-ND4 | c.1164A>T (p.Ter388Cys) | |
| MT | m.11924T>A | CA414811702 | MT-ND4 | c.1165T>A (p.Ser389Thr) | |
| MT | m.11924T>C | CA414811703 | MT-ND4 | c.1165T>C (p.Ser389Pro) | |
| MT | m.11924T>G | CA414811705 | MT-ND4 | c.1165T>G (p.Ser389Ala) | |
| MT | m.11924T= | CA2573328565 | MT-ND4 | c.1165T= (p.Ser389=) | |
| MT | m.11925C>A | CA414811708 | MT-ND4 | c.1166C>A (p.Ser389Ter) | |
| MT | m.11925C= | CA2573328566 | MT-ND4 | c.1166C= (p.Ser389=) | |
| MT | m.11925C>G | CA414811711 | MT-ND4 | c.1166C>G (p.Ser389Ter) | |
| MT | m.11925C>T | CA414811709 | MT-ND4 | c.1166C>T (p.Ser389Leu) | |
| MT | m.11926A= | CA2573328567 | MT-ND4 | c.1167A= (p.Ser389=) | |
| MT | m.11926A>C | CA913169107 | MT-ND4 | c.1167A>C (p.Ser389=) | |
| MT | m.11926A>G | CA913169108 | MT-ND4 | c.1167A>G (p.Ser389=) | |
| MT | m.11926A>T | CA913169109 | MT-ND4 | c.1167A>T (p.Ser389=) | dbSNP |
| MT | m.11927A= | CA2573328568 | MT-ND4 | c.1168A= (p.Asn390=) | |
| MT | m.11927A>C | CA414811713 | MT-ND4 | c.1168A>C (p.Asn390His) | |
| MT | m.11927A>G | CA414811715 | MT-ND4 | c.1168A>G (p.Asn390Asp) | |
| MT | m.11927A>T | CA414811717 | MT-ND4 | c.1168A>T (p.Asn390Tyr) | |
| MT | m.11928A= | CA2499567333 | MT-ND4 | c.1169A= (p.Asn390=) | |
| MT | m.11928A>C | CA414811719 | MT-ND4 | c.1169A>C (p.Asn390Thr) | |
| MT | m.11928A>G | CA414811721 | MT-ND4 | c.1169A>G (p.Asn390Ser) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.11928A>T | CA414811723 | MT-ND4 | c.1169A>T (p.Asn390Ile) | |
| MT | m.11929T>A | CA414811725 | MT-ND4 | c.1170T>A (p.Asn390Lys) | |
| MT | m.11929T>C | CA913169118 | MT-ND4 | c.1170T>C (p.Asn390=) | dbSNP |
| MT | m.11929T>G | CA337099346 | MT-ND4 | c.1170T>G (p.Asn390Lys) | dbSNP |
| MT | m.11929T= | CA2499567334 | MT-ND4 | c.1170T= (p.Asn390=) | |
| MT | m.11930A= | CA2499567335 | MT-ND4 | c.1171A= (p.Ile391=) | |
| MT | m.11930A>C | CA414811728 | MT-ND4 | c.1171A>C (p.Ile391Leu) | |
| MT | m.11930A>G | CA414811731 | MT-ND4 | c.1171A>G (p.Ile391Val) | ClinVar dbSNP |
| MT | m.11930A>T | CA414811732 | MT-ND4 | c.1171A>T (p.Ile391Phe) | |
| MT | m.11931T>A | CA414811738 | MT-ND4 | c.1172T>A (p.Ile391Asn) | |
| MT | m.11931T>C | CA414811734 | MT-ND4 | c.1172T>C (p.Ile391Thr) | ClinVar dbSNP |
| MT | m.11931T>G | CA414811736 | MT-ND4 | c.1172T>G (p.Ile391Ser) | |
| MT | m.11931T= | CA2499567336 | MT-ND4 | c.1172T= (p.Ile391=) | |
| MT | m.11932C>A | CA913169127 | MT-ND4 | c.1173C>A (p.Ile391=) | |
| MT | m.11932C= | CA2499567337 | MT-ND4 | c.1173C= (p.Ile391=) | |
| MT | m.11932C>G | CA414811741 | MT-ND4 | c.1173C>G (p.Ile391Met) | |
| MT | m.11932C>T | CA913169129 | MT-ND4 | c.1173C>T (p.Ile391=) | dbSNP |
| MT | m.11933A= | CA2573328578 | MT-ND4 | c.1174A= (p.Thr392=) | |
| MT | m.11933A>C | CA414811743 | MT-ND4 | c.1174A>C (p.Thr392Pro) | |
| MT | m.11933A>G | CA414811745 | MT-ND4 | c.1174A>G (p.Thr392Ala) | |
| MT | m.11933A>T | CA414811747 | MT-ND4 | c.1174A>T (p.Thr392Ser) | |
| MT | m.11934C>A | CA414811750 | MT-ND4 | c.1175C>A (p.Thr392Asn) | |
| MT | m.11934C= | CA2513054600 | MT-ND4 | c.1175C= (p.Thr392=) | |
| MT | m.11934C>G | CA414811751 | MT-ND4 | c.1175C>G (p.Thr392Ser) | |
| MT | m.11934C>T | CA414811752 | MT-ND4 | c.1175C>T (p.Thr392Ile) | |
| MT | m.11935T>A | CA913169134 | MT-ND4 | c.1176T>A (p.Thr392=) | |
| MT | m.11935T>C | CA913169136 | MT-ND4 | c.1176T>C (p.Thr392=) | dbSNP |
| MT | m.11935T>G | CA913169135 | MT-ND4 | c.1176T>G (p.Thr392=) | |
| MT | m.11935T= | CA2499567338 | MT-ND4 | c.1176T= (p.Thr392=) | |
| MT | m.11936C>A | CA414811755 | MT-ND4 | c.1177C>A (p.Leu393Ile) | |
| MT | m.11936C= | CA2573328579 | MT-ND4 | c.1177C= (p.Leu393=) | |
| MT | m.11936C>G | CA414811757 | MT-ND4 | c.1177C>G (p.Leu393Val) | |
| MT | m.11936C>T | CA414811758 | MT-ND4 | c.1177C>T (p.Leu393Phe) | |
| MT | m.11937T>A | CA414811764 | MT-ND4 | c.1178T>A (p.Leu393His) | |
| MT | m.11937T>C | CA414811763 | MT-ND4 | c.1178T>C (p.Leu393Pro) | |
| MT | m.11937T>G | CA414811761 | MT-ND4 | c.1178T>G (p.Leu393Arg) | |
| MT | m.11937T= | CA2573328580 | MT-ND4 | c.1178T= (p.Leu393=) | |
| MT | m.11938C>A | CA913169142 | MT-ND4 | c.1179C>A (p.Leu393=) | |
| MT | m.11938C= | CA2499567339 | MT-ND4 | c.1179C= (p.Leu393=) | |
| MT | m.11938C>G | CA913169141 | MT-ND4 | c.1179C>G (p.Leu393=) | |
| MT | m.11938C>T | CA913169140 | MT-ND4 | c.1179C>T (p.Leu393=) | dbSNP |
| MT | m.11939C>A | CA414811768 | MT-ND4 | c.1180C>A (p.Leu394Ile) | |
| MT | m.11939C= | CA2573328581 | MT-ND4 | c.1180C= (p.Leu394=) | |
| MT | m.11939C>G | CA414811767 | MT-ND4 | c.1180C>G (p.Leu394Val) | |
| MT | m.11939C>T | CA913169145 | MT-ND4 | c.1180C>T (p.Leu394=) | |
| MT | m.11940T>A | CA414811774 | MT-ND4 | c.1181T>A (p.Leu394Gln) | |
| MT | m.11940T>C | CA414811771 | MT-ND4 | c.1181T>C (p.Leu394Pro) | |
| MT | m.11940T>G | CA414811773 | MT-ND4 | c.1181T>G (p.Leu394Arg) | |
| MT | m.11940T= | CA2573328583 | MT-ND4 | c.1181T= (p.Leu394=) | |
| MT | m.11941A= | CA2499567340 | MT-ND4 | c.1182A= (p.Leu394=) | |
| MT | m.11941A>C | CA913169184 | MT-ND4 | c.1182A>C (p.Leu394=) | |
| MT | m.11941A>G | CA913169183 | MT-ND4 | c.1182A>G (p.Leu394=) | dbSNP |
| MT | m.11941A>T | CA913169182 | MT-ND4 | c.1182A>T (p.Leu394=) | |
| MT | m.11942C>A | CA414811777 | MT-ND4 | c.1183C>A (p.Leu395Ile) | |
| MT | m.11942C= | CA2573328586 | MT-ND4 | c.1183C= (p.Leu395=) | |
| MT | m.11942C>G | CA414811779 | MT-ND4 | c.1183C>G (p.Leu395Val) | |
| MT | m.11942C>T | CA414811781 | MT-ND4 | c.1183C>T (p.Leu395Phe) | |
| MT | m.11943T>A | CA414811783 | MT-ND4 | c.1184T>A (p.Leu395His) | |
| MT | m.11943T>C | CA414811785 | MT-ND4 | c.1184T>C (p.Leu395Pro) | |
| MT | m.11943T>G | CA414811786 | MT-ND4 | c.1184T>G (p.Leu395Arg) | |
| MT | m.11943T= | CA2573328588 | MT-ND4 | c.1184T= (p.Leu395=) | |
| MT | m.11944T>A | CA337099352 | MT-ND4 | c.1185T>A (p.Leu395=) | dbSNP |
| MT | m.11944T>C | CA337099350 | MT-ND4 | c.1185T>C (p.Leu395=) | dbSNP |
| MT | m.11944T>G | CA337099348 | MT-ND4 | c.1185T>G (p.Leu395=) | dbSNP |
| MT | m.11944T= | CA2499567341 | MT-ND4 | c.1185T= (p.Leu395=) | |
| MT | m.11945A= | CA2573328591 | MT-ND4 | c.1186A= (p.Thr396=) | |
| MT | m.11945A>C | CA414811795 | MT-ND4 | c.1186A>C (p.Thr396Pro) | |
| MT | m.11945A>G | CA414811792 | MT-ND4 | c.1186A>G (p.Thr396Ala) | |
| MT | m.11945A>T | CA414811793 | MT-ND4 | c.1186A>T (p.Thr396Ser) | |
| MT | m.11946C>A | CA414811798 | MT-ND4 | c.1187C>A (p.Thr396Lys) | |
| MT | m.11946C= | CA2499567342 | MT-ND4 | c.1187C= (p.Thr396=) | |
| MT | m.11946C>G | CA414811799 | MT-ND4 | c.1187C>G (p.Thr396Arg) | |
| MT | m.11946C>T | CA414811801 | MT-ND4 | c.1187C>T (p.Thr396Ile) | ClinVar dbSNP |
| MT | m.11947A= | CA2499567343 | MT-ND4 | c.1188A= (p.Thr396=) | |
| MT | m.11947A>C | CA913169190 | MT-ND4 | c.1188A>C (p.Thr396=) | |
| MT | m.11947A>G | CA337099354 | MT-ND4 | c.1188A>G (p.Thr396=) | dbSNP |
| MT | m.11947A>T | CA913169191 | MT-ND4 | c.1188A>T (p.Thr396=) | |
| MT | m.11948G>A | CA414811804 | MT-ND4 | c.1189G>A (p.Gly397Arg) | COSMIC |
| MT | m.11948G>C | CA414811806 | MT-ND4 | c.1189G>C (p.Gly397Arg) | |
| MT | m.11948G= | CA2573328597 | MT-ND4 | c.1189G= (p.Gly397=) | |
| MT | m.11948G>T | CA414811808 | MT-ND4 | c.1189G>T (p.Gly397Ter) | |
| MT | m.11949G>A | CA414811810 | MT-ND4 | c.1190G>A (p.Gly397Glu) | |
| MT | m.11949G>C | CA414811812 | MT-ND4 | c.1190G>C (p.Gly397Ala) | |
| MT | m.11949G= | CA2573328598 | MT-ND4 | c.1190G= (p.Gly397=) | |
| MT | m.11949G>T | CA414811814 | MT-ND4 | c.1190G>T (p.Gly397Val) | |
| MT | m.11950A= | CA2499567344 | MT-ND4 | c.1191A= (p.Gly397=) | |
| MT | m.11950A>C | CA913169192 | MT-ND4 | c.1191A>C (p.Gly397=) | |
| MT | m.11950A>G | CA913169193 | MT-ND4 | c.1191A>G (p.Gly397=) | dbSNP |
| MT | m.11950A>T | CA913169194 | MT-ND4 | c.1191A>T (p.Gly397=) | |
| MT | m.11951C>A | CA414811820 | MT-ND4 | c.1192C>A (p.Leu398Ile) | |
| MT | m.11951C= | CA2573328602 | MT-ND4 | c.1192C= (p.Leu398=) | |
| MT | m.11951C>G | CA414811818 | MT-ND4 | c.1192C>G (p.Leu398Val) | |
| MT | m.11951C>T | CA414811816 | MT-ND4 | c.1192C>T (p.Leu398Phe) | |
| MT | m.11952T>A | CA414811822 | MT-ND4 | c.1193T>A (p.Leu398His) | |
| MT | m.11952T>C | CA414811824 | MT-ND4 | c.1193T>C (p.Leu398Pro) | |
| MT | m.11952T>G | CA414811826 | MT-ND4 | c.1193T>G (p.Leu398Arg) | |
| MT | m.11952T= | CA2573328605 | MT-ND4 | c.1193T= (p.Leu398=) | |
| MT | m.11953C>A | CA913169200 | MT-ND4 | c.1194C>A (p.Leu398=) | |
| MT | m.11953C= | CA2573328608 | MT-ND4 | c.1194C= (p.Leu398=) | |
| MT | m.11953C>G | CA913169198 | MT-ND4 | c.1194C>G (p.Leu398=) | |
| MT | m.11953C>T | CA913169199 | MT-ND4 | c.1194C>T (p.Leu398=) | dbSNP |
| MT | m.11954A= | CA2573328611 | MT-ND4 | c.1195A= (p.Asn399=) | |
| MT | m.11954A>C | CA414811829 | MT-ND4 | c.1195A>C (p.Asn399His) | |
| MT | m.11954A>G | CA414811830 | MT-ND4 | c.1195A>G (p.Asn399Asp) | |
| MT | m.11954A>T | CA414811831 | MT-ND4 | c.1195A>T (p.Asn399Tyr) | |
| MT | m.11955A= | CA2573328612 | MT-ND4 | c.1196A= (p.Asn399=) | |
| MT | m.11955A>C | CA414811834 | MT-ND4 | c.1196A>C (p.Asn399Thr) | |
| MT | m.11955A>G | CA414811835 | MT-ND4 | c.1196A>G (p.Asn399Ser) | |
| MT | m.11955A>T | CA414811837 | MT-ND4 | c.1196A>T (p.Asn399Ile) | |
| MT | m.11956C>A | CA414811839 | MT-ND4 | c.1197C>A (p.Asn399Lys) | |
| MT | m.11956C= | CA2499567345 | MT-ND4 | c.1197C= (p.Asn399=) | |
| MT | m.11956C>G | CA414811841 | MT-ND4 | c.1197C>G (p.Asn399Lys) | |
| MT | m.11956C>T | CA913169206 | MT-ND4 | c.1197C>T (p.Asn399=) | dbSNP |
| MT | m.11957A= | CA2499567346 | MT-ND4 | c.1198A= (p.Ile400=) | |
| MT | m.11957A>C | CA414811847 | MT-ND4 | c.1198A>C (p.Ile400Leu) | |
| MT | m.11957A>G | CA414811845 | MT-ND4 | c.1198A>G (p.Ile400Val) | ClinVar dbSNP |
| MT | m.11957A>T | CA414811843 | MT-ND4 | c.1198A>T (p.Ile400Leu) | |
| MT | m.11958T>A | CA414811850 | MT-ND4 | c.1199T>A (p.Ile400Lys) | |
| MT | m.11958T>C | CA414811851 | MT-ND4 | c.1199T>C (p.Ile400Thr) | |
| MT | m.11958T>G | CA414811853 | MT-ND4 | c.1199T>G (p.Ile400Arg) | |
| MT | m.11958T= | CA2573328621 | MT-ND4 | c.1199T= (p.Ile400=) | |
| MT | m.11959A= | CA2499567347 | MT-ND4 | c.1200A= (p.Ile400=) | |
| MT | m.11959A>C | CA913169210 | MT-ND4 | c.1200A>C (p.Ile400=) | |
| MT | m.11959A>G | CA337099355 | MT-ND4 | c.1200A>G (p.Ile400Met) | dbSNP |
| MT | m.11959A>T | CA913169209 | MT-ND4 | c.1200A>T (p.Ile400=) | |
| MT | m.11960C>A | CA414811856 | MT-ND4 | c.1201C>A (p.Leu401Ile) | |
| MT | m.11960C= | CA2573328625 | MT-ND4 | c.1201C= (p.Leu401=) | |
| MT | m.11960C>G | CA414811858 | MT-ND4 | c.1201C>G (p.Leu401Val) | |
| MT | m.11960C>T | CA913169212 | MT-ND4 | c.1201C>T (p.Leu401=) | |
| MT | m.11961T>A | CA414811861 | MT-ND4 | c.1202T>A (p.Leu401Gln) | |
| MT | m.11961T>C | CA414811862 | MT-ND4 | c.1202T>C (p.Leu401Pro) | |
| MT | m.11961T>G | CA414811865 | MT-ND4 | c.1202T>G (p.Leu401Arg) | |
| MT | m.11961T= | CA2573328626 | MT-ND4 | c.1202T= (p.Leu401=) | |
| MT | m.11962A= | CA2499567348 | MT-ND4 | c.1203A= (p.Leu401=) | |
| MT | m.11962A>C | CA913169218 | MT-ND4 | c.1203A>C (p.Leu401=) | |
| MT | m.11962A>G | CA913169220 | MT-ND4 | c.1203A>G (p.Leu401=) | dbSNP |
| MT | m.11962A>T | CA913169221 | MT-ND4 | c.1203A>T (p.Leu401=) | |
| MT | m.11963G>A | CA337099357 | MT-ND4 | c.1204G>A (p.Val402Ile) | ClinVar dbSNP |
| MT | m.11963G>C | CA414811868 | MT-ND4 | c.1204G>C (p.Val402Leu) | |
| MT | m.11963G= | CA2499567349 | MT-ND4 | c.1204G= (p.Val402=) | |
| MT | m.11963G>T | CA414811870 | MT-ND4 | c.1204G>T (p.Val402Phe) | |
| MT | m.11964T>A | CA414811876 | MT-ND4 | c.1205T>A (p.Val402Asp) | |
| MT | m.11964T>C | CA414811874 | MT-ND4 | c.1205T>C (p.Val402Ala) | |
| MT | m.11964T>G | CA414811872 | MT-ND4 | c.1205T>G (p.Val402Gly) | ClinVar dbSNP |
| MT | m.11964T= | CA2499567350 | MT-ND4 | c.1205T= (p.Val402=) | |
| MT | m.11965C>A | CA913169224 | MT-ND4 | c.1206C>A (p.Val402=) | |
| MT | m.11965C= | CA2499567351 | MT-ND4 | c.1206C= (p.Val402=) | |
| MT | m.11965C>G | CA913169225 | MT-ND4 | c.1206C>G (p.Val402=) | |
| MT | m.11965C>T | CA913169222 | MT-ND4 | c.1206C>T (p.Val402=) | dbSNP |
| MT | m.11966A= | CA2573328635 | MT-ND4 | c.1207A= (p.Thr403=) | |
| MT | m.11966A>C | CA414811878 | MT-ND4 | c.1207A>C (p.Thr403Pro) | |
| MT | m.11966A>G | CA414811882 | MT-ND4 | c.1207A>G (p.Thr403Ala) | |
| MT | m.11966A>T | CA414811880 | MT-ND4 | c.1207A>T (p.Thr403Ser) | |
| MT | m.11967C>A | CA414811885 | MT-ND4 | c.1208C>A (p.Thr403Lys) | |
| MT | m.11967C= | CA2573328639 | MT-ND4 | c.1208C= (p.Thr403=) | |
| MT | m.11967C>G | CA414811888 | MT-ND4 | c.1208C>G (p.Thr403Arg) | |
| MT | m.11967C>T | CA414811887 | MT-ND4 | c.1208C>T (p.Thr403Ile) | |
| MT | m.11968A= | CA2499567352 | MT-ND4 | c.1209A= (p.Thr403=) | |
| MT | m.11968A>C | CA913169231 | MT-ND4 | c.1209A>C (p.Thr403=) | |
| MT | m.11968A>G | CA913169229 | MT-ND4 | c.1209A>G (p.Thr403=) | |
| MT | m.11968A>T | CA913169228 | MT-ND4 | c.1209A>T (p.Thr403=) | dbSNP |
| MT | m.11969G>A | CA337099359 | MT-ND4 | c.1210G>A (p.Ala404Thr) | ClinVar dbSNP |
| MT | m.11969G>C | CA414811893 | MT-ND4 | c.1210G>C (p.Ala404Pro) | |
| MT | m.11969G= | CA2499567353 | MT-ND4 | c.1210G= (p.Ala404=) | |
| MT | m.11969G>T | CA414811892 | MT-ND4 | c.1210G>T (p.Ala404Ser) | |
| MT | m.11970C>A | CA414811896 | MT-ND4 | c.1211C>A (p.Ala404Asp) | |
| MT | m.11970C= | CA2573328644 | MT-ND4 | c.1211C= (p.Ala404=) | |
| MT | m.11970C>G | CA414811898 | MT-ND4 | c.1211C>G (p.Ala404Gly) | |
| MT | m.11970C>T | CA414811899 | MT-ND4 | c.1211C>T (p.Ala404Val) | |
| MT | m.11971C>A | CA913169234 | MT-ND4 | c.1212C>A (p.Ala404=) | |
| MT | m.11971C= | CA2499567354 | MT-ND4 | c.1212C= (p.Ala404=) | |
| MT | m.11971C>G | CA913169235 | MT-ND4 | c.1212C>G (p.Ala404=) | |
| MT | m.11971C>T | CA913169236 | MT-ND4 | c.1212C>T (p.Ala404=) | dbSNP |
| MT | m.11972C>A | CA414811901 | MT-ND4 | c.1213C>A (p.Leu405Ile) | |
| MT | m.11972C= | CA2573328647 | MT-ND4 | c.1213C= (p.Leu405=) | |
| MT | m.11972C>G | CA414811903 | MT-ND4 | c.1213C>G (p.Leu405Val) | |
| MT | m.11972C>T | CA913169238 | MT-ND4 | c.1213C>T (p.Leu405=) | |
| MT | m.11973T>A | CA414811906 | MT-ND4 | c.1214T>A (p.Leu405Gln) | |
| MT | m.11973T>C | CA414811907 | MT-ND4 | c.1214T>C (p.Leu405Pro) | |
| MT | m.11973T>G | CA414811909 | MT-ND4 | c.1214T>G (p.Leu405Arg) | |
| MT | m.11973T= | CA2573328651 | MT-ND4 | c.1214T= (p.Leu405=) | |
| MT | m.11974A= | CA2499567355 | MT-ND4 | c.1215A= (p.Leu405=) | |
| MT | m.11974A>C | CA913169241 | MT-ND4 | c.1215A>C (p.Leu405=) | |
| MT | m.11974A>G | CA913169242 | MT-ND4 | c.1215A>G (p.Leu405=) | dbSNP |
| MT | m.11974A>T | CA913169243 | MT-ND4 | c.1215A>T (p.Leu405=) | |
| MT | m.11975T>A | CA414811911 | MT-ND4 | c.1216T>A (p.Tyr406Asn) | |
| MT | m.11975T>C | CA414811913 | MT-ND4 | c.1216T>C (p.Tyr406His) | |
| MT | m.11975T>G | CA414811915 | MT-ND4 | c.1216T>G (p.Tyr406Asp) | |
| MT | m.11975T= | CA2573328657 | MT-ND4 | c.1216T= (p.Tyr406=) | |
| MT | m.11976A= | CA2573328658 | MT-ND4 | c.1217A= (p.Tyr406=) | |
| MT | m.11976A>C | CA414811917 | MT-ND4 | c.1217A>C (p.Tyr406Ser) | |
| MT | m.11976A>G | CA414811921 | MT-ND4 | c.1217A>G (p.Tyr406Cys) | |
| MT | m.11976A>T | CA414811919 | MT-ND4 | c.1217A>T (p.Tyr406Phe) | |
| MT | m.11977C>A | CA414811923 | MT-ND4 | c.1218C>A (p.Tyr406Ter) | |
| MT | m.11977C= | CA2499567356 | MT-ND4 | c.1218C= (p.Tyr406=) | |
| MT | m.11977C>G | CA414811925 | MT-ND4 | c.1218C>G (p.Tyr406Ter) | |
| MT | m.11977C>T | CA913169244 | MT-ND4 | c.1218C>T (p.Tyr406=) | dbSNP |
| MT | m.11978T>A | CA414811927 | MT-ND4 | c.1219T>A (p.Ser407Thr) | ClinVar dbSNP |
| MT | m.11978T>C | CA414811929 | MT-ND4 | c.1219T>C (p.Ser407Pro) | |
| MT | m.11978T>G | CA414811931 | MT-ND4 | c.1219T>G (p.Ser407Ala) | |
| MT | m.11978T= | CA2499567357 | MT-ND4 | c.1219T= (p.Ser407=) | |
| MT | m.11979C>A | CA414811933 | MT-ND4 | c.1220C>A (p.Ser407Tyr) | |
| MT | m.11979C= | CA2573328664 | MT-ND4 | c.1220C= (p.Ser407=) | |
| MT | m.11979C>G | CA414811935 | MT-ND4 | c.1220C>G (p.Ser407Cys) | |
| MT | m.11979C>T | CA414811937 | MT-ND4 | c.1220C>T (p.Ser407Phe) | |
| MT | m.11980C>A | CA913169249 | MT-ND4 | c.1221C>A (p.Ser407=) | |
| MT | m.11980C= | CA2573328666 | MT-ND4 | c.1221C= (p.Ser407=) | |
| MT | m.11980C>G | CA913169247 | MT-ND4 | c.1221C>G (p.Ser407=) | |
| MT | m.11980C>T | CA913169246 | MT-ND4 | c.1221C>T (p.Ser407=) | |
| MT | m.11981C>A | CA414811942 | MT-ND4 | c.1222C>A (p.Leu408Ile) | |
| MT | m.11981C= | CA2499567358 | MT-ND4 | c.1222C= (p.Leu408=) | |
| MT | m.11981C>G | CA414811941 | MT-ND4 | c.1222C>G (p.Leu408Val) | |
| MT | m.11981C>T | CA337099362 | MT-ND4 | c.1222C>T (p.Leu408Phe) | ClinVar dbSNP |
| MT | m.11982T>A | CA414811945 | MT-ND4 | c.1223T>A (p.Leu408His) | |
| MT | m.11982T>C | CA414811947 | MT-ND4 | c.1223T>C (p.Leu408Pro) | |
| MT | m.11982T>G | CA414811948 | MT-ND4 | c.1223T>G (p.Leu408Arg) | |
| MT | m.11982T= | CA2573328673 | MT-ND4 | c.1223T= (p.Leu408=) | |
| MT | m.11983C>A | CA913169250 | MT-ND4 | c.1224C>A (p.Leu408=) | |
| MT | m.11983C= | CA2513654013 | MT-ND4 | c.1224C= (p.Leu408=) | |
| MT | m.11983C>G | CA913169251 | MT-ND4 | c.1224C>G (p.Leu408=) | |
| MT | m.11983C>T | CA913169252 | MT-ND4 | c.1224C>T (p.Leu408=) | |
| MT | m.11984T>A | CA414811952 | MT-ND4 | c.1225T>A (p.Tyr409Asn) | |
| MT | m.11984T>C | CA345917 | MT-ND4 | c.1225T>C (p.Tyr409His) | ClinVar dbSNP |
| MT | m.11984T>G | CA414811954 | MT-ND4 | c.1225T>G (p.Tyr409Asp) | |
| MT | m.11984T= | CA2499567359 | MT-ND4 | c.1225T= (p.Tyr409=) | |
| MT | m.11985A= | CA2573328681 | MT-ND4 | c.1226A= (p.Tyr409=) | |
| MT | m.11985A>C | CA414811957 | MT-ND4 | c.1226A>C (p.Tyr409Ser) | |
| MT | m.11985A>G | CA414811958 | MT-ND4 | c.1226A>G (p.Tyr409Cys) | |
| MT | m.11985A>T | CA414811960 | MT-ND4 | c.1226A>T (p.Tyr409Phe) | |
| MT | m.11986C>A | CA414811962 | MT-ND4 | c.1227C>A (p.Tyr409Ter) | |
| MT | m.11986C= | CA2499567360 | MT-ND4 | c.1227C= (p.Tyr409=) | |
| MT | m.11986C>G | CA414811964 | MT-ND4 | c.1227C>G (p.Tyr409Ter) | |
| MT | m.11986C>T | CA913169256 | MT-ND4 | c.1227C>T (p.Tyr409=) | dbSNP |
| MT | m.11987A= | CA2573328683 | MT-ND4 | c.1228A= (p.Ile410=) | |
| MT | m.11987A>C | CA414811970 | MT-ND4 | c.1228A>C (p.Ile410Leu) | |
| MT | m.11987A>G | CA414811967 | MT-ND4 | c.1228A>G (p.Ile410Val) | |
| MT | m.11987A>T | CA414811968 | MT-ND4 | c.1228A>T (p.Ile410Leu) | |
| MT | m.11989_11990del | CA2573105227 | MT-ND4 | c.1230_1231del (p.Phe411TyrfsTer13) |