OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| 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.9062_16052del | CA2580618296 | |||
| MT | m.9763T>A | CA414803656 | MT-CO3 | c.557T>A (p.Phe186Tyr) | |
| MT | m.9763T>C | CA414803657 | MT-CO3 | c.557T>C (p.Phe186Ser) | dbSNP |
| MT | m.9763T>G | CA414803658 | MT-CO3 | c.557T>G (p.Phe186Cys) | |
| MT | m.9763T= | CA2499566454 | MT-CO3 | c.557T= (p.Phe186=) | |
| MT | m.9764C>A | CA414803659 | MT-CO3 | c.558C>A (p.Phe186Leu) | |
| MT | m.9764C= | CA2573324079 | MT-CO3 | c.558C= (p.Phe186=) | |
| MT | m.9764C>G | CA414803660 | MT-CO3 | c.558C>G (p.Phe186Leu) | |
| MT | m.9764C>T | CA913182144 | MT-CO3 | c.558C>T (p.Phe186=) | |
| MT | m.9765A= | CA2499566455 | MT-CO3 | c.559A= (p.Thr187=) | |
| MT | m.9765A>C | CA414803663 | MT-CO3 | c.559A>C (p.Thr187Pro) | |
| MT | m.9765A>G | CA414803661 | MT-CO3 | c.559A>G (p.Thr187Ala) | ClinVar dbSNP |
| MT | m.9765A>T | CA414803662 | MT-CO3 | c.559A>T (p.Thr187Ser) | |
| MT | m.9766C>A | CA414803664 | MT-CO3 | c.560C>A (p.Thr187Asn) | |
| MT | m.9766C= | CA2573324086 | MT-CO3 | c.560C= (p.Thr187=) | |
| MT | m.9766C>G | CA414803665 | MT-CO3 | c.560C>G (p.Thr187Ser) | |
| MT | m.9766C>T | CA414803666 | MT-CO3 | c.560C>T (p.Thr187Ile) | |
| MT | m.9767C>A | CA913182147 | MT-CO3 | c.561C>A (p.Thr187=) | dbSNP |
| MT | m.9767C= | CA2499566456 | MT-CO3 | c.561C= (p.Thr187=) | |
| MT | m.9767C>G | CA913182146 | MT-CO3 | c.561C>G (p.Thr187=) | |
| MT | m.9767C>T | CA337098549 | MT-CO3 | c.561C>T (p.Thr187=) | dbSNP |
| MT | m.9768A= | CA2573324090 | MT-CO3 | c.562A= (p.Ile188=) | |
| MT | m.9768A>C | CA414803667 | MT-CO3 | c.562A>C (p.Ile188Leu) | COSMIC COSMIC |
| MT | m.9768A>G | CA414803668 | MT-CO3 | c.562A>G (p.Ile188Val) | |
| MT | m.9768A>T | CA414803669 | MT-CO3 | c.562A>T (p.Ile188Phe) | |
| MT | m.9769T>A | CA414803670 | MT-CO3 | c.563T>A (p.Ile188Asn) | |
| MT | m.9769T>C | CA414803671 | MT-CO3 | c.563T>C (p.Ile188Thr) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.9769T>G | CA414803672 | MT-CO3 | c.563T>G (p.Ile188Ser) | |
| MT | m.9769T= | CA2499566457 | MT-CO3 | c.563T= (p.Ile188=) | |
| MT | m.9770T>A | CA913182150 | MT-CO3 | c.564T>A (p.Ile188=) | |
| MT | m.9770T>C | CA337098552 | MT-CO3 | c.564T>C (p.Ile188=) | dbSNP |
| MT | m.9770T>G | CA414803673 | MT-CO3 | c.564T>G (p.Ile188Met) | |
| MT | m.9770T= | CA2499566458 | MT-CO3 | c.564T= (p.Ile188=) | |
| MT | m.9771T>A | CA414803674 | MT-CO3 | c.565T>A (p.Ser189Thr) | |
| MT | m.9771T>C | CA414803676 | MT-CO3 | c.565T>C (p.Ser189Pro) | dbSNP |
| MT | m.9771T>G | CA414803675 | MT-CO3 | c.565T>G (p.Ser189Ala) | |
| MT | m.9771T= | CA2573324101 | MT-CO3 | c.565T= (p.Ser189=) | |
| MT | m.9772C>A | CA414803677 | MT-CO3 | c.566C>A (p.Ser189Tyr) | |
| MT | m.9772C= | CA2573324104 | MT-CO3 | c.566C= (p.Ser189=) | |
| MT | m.9772C>G | CA414803678 | MT-CO3 | c.566C>G (p.Ser189Cys) | |
| MT | m.9772C>T | CA414803679 | MT-CO3 | c.566C>T (p.Ser189Phe) | |
| MT | m.9773C>A | CA913182154 | MT-CO3 | c.567C>A (p.Ser189=) | |
| MT | m.9773C= | CA2499566459 | MT-CO3 | c.567C= (p.Ser189=) | |
| MT | m.9773C>G | CA913182153 | MT-CO3 | c.567C>G (p.Ser189=) | |
| MT | m.9773C>T | CA913182152 | MT-CO3 | c.567C>T (p.Ser189=) | dbSNP |
| MT | m.9774G>A | CA414803680 | MT-CO3 | c.568G>A (p.Asp190Asn) | |
| MT | m.9774G>C | CA414803681 | MT-CO3 | c.568G>C (p.Asp190His) | |
| MT | m.9774G= | CA2573324110 | MT-CO3 | c.568G= (p.Asp190=) | |
| MT | m.9774G>T | CA414803682 | MT-CO3 | c.568G>T (p.Asp190Tyr) | |
| MT | m.9775A= | CA2573324112 | MT-CO3 | c.569A= (p.Asp190=) | |
| MT | m.9775A>C | CA414803683 | MT-CO3 | c.569A>C (p.Asp190Ala) | |
| MT | m.9775A>G | CA414803684 | MT-CO3 | c.569A>G (p.Asp190Gly) | |
| MT | m.9775A>T | CA414803685 | MT-CO3 | c.569A>T (p.Asp190Val) | |
| MT | m.9776C>A | CA414803686 | MT-CO3 | c.570C>A (p.Asp190Glu) | |
| MT | m.9776C= | CA2573324114 | MT-CO3 | c.570C= (p.Asp190=) | |
| MT | m.9776C>G | CA414803687 | MT-CO3 | c.570C>G (p.Asp190Glu) | |
| MT | m.9776C>T | CA913182158 | MT-CO3 | c.570C>T (p.Asp190=) | |
| MT | m.9777G>A | CA414803690 | MT-CO3 | c.571G>A (p.Gly191Ser) | ClinVar dbSNP |
| MT | m.9777G>C | CA414803689 | MT-CO3 | c.571G>C (p.Gly191Arg) | |
| MT | m.9777G= | CA2499566460 | MT-CO3 | c.571G= (p.Gly191=) | |
| MT | m.9777G>T | CA414803688 | MT-CO3 | c.571G>T (p.Gly191Cys) | |
| MT | m.9778G>A | CA414803691 | MT-CO3 | c.572G>A (p.Gly191Asp) | |
| MT | m.9778G>C | CA414803692 | MT-CO3 | c.572G>C (p.Gly191Ala) | |
| MT | m.9778G= | CA2573324119 | MT-CO3 | c.572G= (p.Gly191=) | |
| MT | m.9778G>T | CA414803693 | MT-CO3 | c.572G>T (p.Gly191Val) | |
| MT | m.9779C>A | CA913182160 | MT-CO3 | c.573C>A (p.Gly191=) | |
| MT | m.9779C= | CA2499566461 | MT-CO3 | c.573C= (p.Gly191=) | |
| MT | m.9779C>G | CA913182159 | MT-CO3 | c.573C>G (p.Gly191=) | |
| MT | m.9779C>T | CA337098555 | MT-CO3 | c.573C>T (p.Gly191=) | dbSNP |
| MT | m.9780A= | CA2499566462 | MT-CO3 | c.574A= (p.Ile192=) | |
| MT | m.9780A>C | CA414803694 | MT-CO3 | c.574A>C (p.Ile192Leu) | |
| MT | m.9780A>G | CA414803695 | MT-CO3 | c.574A>G (p.Ile192Val) | dbSNP |
| MT | m.9780A>T | CA414803696 | MT-CO3 | c.574A>T (p.Ile192Phe) | |
| MT | m.9781T>A | CA414803697 | MT-CO3 | c.575T>A (p.Ile192Asn) | |
| MT | m.9781T>C | CA414803698 | MT-CO3 | c.575T>C (p.Ile192Thr) | |
| MT | m.9781T>G | CA414803699 | MT-CO3 | c.575T>G (p.Ile192Ser) | |
| MT | m.9781T= | CA2573324126 | MT-CO3 | c.575T= (p.Ile192=) | |
| MT | m.9782C>A | CA913182163 | MT-CO3 | c.576C>A (p.Ile192=) | |
| MT | m.9782C= | CA2499566463 | MT-CO3 | c.576C= (p.Ile192=) | |
| MT | m.9782C>G | CA337098559 | MT-CO3 | c.576C>G (p.Ile192Met) | |
| MT | m.9782C>T | CA337098560 | MT-CO3 | c.576C>T (p.Ile192=) | dbSNP |
| MT | m.9783T>A | CA414803700 | MT-CO3 | c.577T>A (p.Tyr193Asn) | |
| MT | m.9783T>C | CA414803702 | MT-CO3 | c.577T>C (p.Tyr193His) | |
| MT | m.9783T>G | CA414803701 | MT-CO3 | c.577T>G (p.Tyr193Asp) | |
| MT | m.9783T= | CA2573324133 | MT-CO3 | c.577T= (p.Tyr193=) | |
| MT | m.9784A= | CA2573324135 | MT-CO3 | c.578A= (p.Tyr193=) | |
| MT | m.9784A>C | CA414803703 | MT-CO3 | c.578A>C (p.Tyr193Ser) | |
| MT | m.9784A>G | CA414803704 | MT-CO3 | c.578A>G (p.Tyr193Cys) | |
| MT | m.9784A>T | CA414803705 | MT-CO3 | c.578A>T (p.Tyr193Phe) | |
| MT | m.9785C>A | CA414803706 | MT-CO3 | c.579C>A (p.Tyr193Ter) | |
| MT | m.9785C= | CA2499566464 | MT-CO3 | c.579C= (p.Tyr193=) | |
| MT | m.9785C>G | CA414803707 | MT-CO3 | c.579C>G (p.Tyr193Ter) | |
| MT | m.9785C>T | CA337098563 | MT-CO3 | c.579C>T (p.Tyr193=) | dbSNP |
| MT | m.9786G>A | CA414803708 | MT-CO3 | c.580G>A (p.Gly194Ser) | ClinVar dbSNP |
| MT | m.9786G>C | CA414803709 | MT-CO3 | c.580G>C (p.Gly194Arg) | |
| MT | m.9786G= | CA2499566465 | MT-CO3 | c.580G= (p.Gly194=) | |
| MT | m.9786G>T | CA414803710 | MT-CO3 | c.580G>T (p.Gly194Cys) | |
| MT | m.9787G>A | CA414803711 | MT-CO3 | c.581G>A (p.Gly194Asp) | |
| MT | m.9787G>C | CA414803712 | MT-CO3 | c.581G>C (p.Gly194Ala) | |
| MT | m.9787G= | CA2573324145 | MT-CO3 | c.581G= (p.Gly194=) | |
| MT | m.9787G>T | CA414803713 | MT-CO3 | c.581G>T (p.Gly194Val) | |
| MT | m.9788C>A | CA913182170 | MT-CO3 | c.582C>A (p.Gly194=) | |
| MT | m.9788C= | CA2573324148 | MT-CO3 | c.582C= (p.Gly194=) | |
| MT | m.9788C>G | CA913182168 | MT-CO3 | c.582C>G (p.Gly194=) | |
| MT | m.9788C>T | CA913182167 | MT-CO3 | c.582C>T (p.Gly194=) | |
| MT | m.9789T>A | CA414803716 | MT-CO3 | c.583T>A (p.Ser195Thr) | |
| MT | m.9789T>C | CA414803715 | MT-CO3 | c.583T>C (p.Ser195Pro) | |
| MT | m.9789T>G | CA414803714 | MT-CO3 | c.583T>G (p.Ser195Ala) | |
| MT | m.9789T= | CA2573324150 | MT-CO3 | c.583T= (p.Ser195=) | |
| MT | m.9790C>A | CA414803717 | MT-CO3 | c.584C>A (p.Ser195Ter) | |
| MT | m.9790C= | CA2573324155 | MT-CO3 | c.584C= (p.Ser195=) | |
| MT | m.9790C>G | CA414803718 | MT-CO3 | c.584C>G (p.Ser195Ter) | |
| MT | m.9790C>T | CA414803719 | MT-CO3 | c.584C>T (p.Ser195Leu) | |
| MT | m.9791A= | CA2573324158 | MT-CO3 | c.585A= (p.Ser195=) | |
| MT | m.9791A>C | CA913182176 | MT-CO3 | c.585A>C (p.Ser195=) | |
| MT | m.9791A>G | CA913182171 | MT-CO3 | c.585A>G (p.Ser195=) | |
| MT | m.9791A>T | CA913182173 | MT-CO3 | c.585A>T (p.Ser195=) | |
| MT | m.9792A= | CA2573324161 | MT-CO3 | c.586A= (p.Thr196=) | |
| MT | m.9792A>C | CA414803720 | MT-CO3 | c.586A>C (p.Thr196Pro) | |
| MT | m.9792A>G | CA414803721 | MT-CO3 | c.586A>G (p.Thr196Ala) | |
| MT | m.9792A>T | CA414803722 | MT-CO3 | c.586A>T (p.Thr196Ser) | |
| MT | m.9793C>A | CA414803723 | MT-CO3 | c.587C>A (p.Thr196Lys) | |
| MT | m.9793C= | CA2573324164 | MT-CO3 | c.587C= (p.Thr196=) | |
| MT | m.9793C>G | CA414803724 | MT-CO3 | c.587C>G (p.Thr196Arg) | |
| MT | m.9793C>T | CA414803725 | MT-CO3 | c.587C>T (p.Thr196Ile) | |
| MT | m.9794A= | CA2573324167 | MT-CO3 | c.588A= (p.Thr196=) | |
| MT | m.9794A>C | CA913182180 | MT-CO3 | c.588A>C (p.Thr196=) | |
| MT | m.9794A>G | CA913182179 | MT-CO3 | c.588A>G (p.Thr196=) | |
| MT | m.9794A>T | CA913182178 | MT-CO3 | c.588A>T (p.Thr196=) | |
| MT | m.9795T>A | CA414803726 | MT-CO3 | c.589T>A (p.Phe197Ile) | |
| MT | m.9795T>C | CA414803727 | MT-CO3 | c.589T>C (p.Phe197Leu) | |
| MT | m.9795T>G | CA414803728 | MT-CO3 | c.589T>G (p.Phe197Val) | |
| MT | m.9795T= | CA2573324170 | MT-CO3 | c.589T= (p.Phe197=) | |
| MT | m.9800del | CA2573105041 | MT-CO3 | c.594del (p.Phe198LeufsTer2) | |
| MT | m.9796T>A | CA414803729 | MT-CO3 | c.590T>A (p.Phe197Tyr) | |
| MT | m.9796T>C | CA414803731 | MT-CO3 | c.590T>C (p.Phe197Ser) | |
| MT | m.9796T>G | CA414803730 | MT-CO3 | c.590T>G (p.Phe197Cys) | |
| MT | m.9796T= | CA2573324174 | MT-CO3 | c.590T= (p.Phe197=) | |
| MT | m.9797T>A | CA414803732 | MT-CO3 | c.591T>A (p.Phe197Leu) | |
| MT | m.9797T>C | CA913182187 | MT-CO3 | c.591T>C (p.Phe197=) | dbSNP |
| MT | m.9797T>G | CA414803733 | MT-CO3 | c.591T>G (p.Phe197Leu) | |
| MT | m.9797T= | CA2499566466 | MT-CO3 | c.591T= (p.Phe197=) | |
| MT | m.9798T>A | CA414803734 | MT-CO3 | c.592T>A (p.Phe198Ile) | |
| MT | m.9798T>C | CA414803735 | MT-CO3 | c.592T>C (p.Phe198Leu) | |
| MT | m.9798T>G | CA414803736 | MT-CO3 | c.592T>G (p.Phe198Val) | |
| MT | m.9798T= | CA2573324180 | MT-CO3 | c.592T= (p.Phe198=) | |
| MT | m.9799T>A | CA414803737 | MT-CO3 | c.593T>A (p.Phe198Tyr) | |
| MT | m.9799T>C | CA414803738 | MT-CO3 | c.593T>C (p.Phe198Ser) | |
| MT | m.9799T>G | CA414803739 | MT-CO3 | c.593T>G (p.Phe198Cys) | |
| MT | m.9799T= | CA2573324185 | MT-CO3 | c.593T= (p.Phe198=) | |
| MT | m.9800T>A | CA414803740 | MT-CO3 | c.594T>A (p.Phe198Leu) | |
| MT | m.9800T>C | CA913182188 | MT-CO3 | c.594T>C (p.Phe198=) | dbSNP |
| MT | m.9800T>G | CA414803741 | MT-CO3 | c.594T>G (p.Phe198Leu) | |
| MT | m.9800T= | CA2499566467 | MT-CO3 | c.594T= (p.Phe198=) | |
| MT | m.9801G>A | CA414803744 | MT-CO3 | c.595G>A (p.Val199Ile) | ClinVar dbSNP |
| MT | m.9801G>C | CA414803743 | MT-CO3 | c.595G>C (p.Val199Leu) | |
| MT | m.9801G= | CA2499566468 | MT-CO3 | c.595G= (p.Val199=) | |
| MT | m.9801G>T | CA414803742 | MT-CO3 | c.595G>T (p.Val199Leu) | |
| MT | m.9802T>A | CA414803745 | MT-CO3 | c.596T>A (p.Val199Glu) | |
| MT | m.9802T>C | CA414803746 | MT-CO3 | c.596T>C (p.Val199Ala) | ClinVar dbSNP |
| MT | m.9802T>G | CA414803747 | MT-CO3 | c.596T>G (p.Val199Gly) | |
| MT | m.9802T= | CA2499566469 | MT-CO3 | c.596T= (p.Val199=) | |
| MT | m.9803A= | CA2499566470 | MT-CO3 | c.597A= (p.Val199=) | |
| MT | m.9803A>C | CA913182195 | MT-CO3 | c.597A>C (p.Val199=) | |
| MT | m.9803A>G | CA913182194 | MT-CO3 | c.597A>G (p.Val199=) | dbSNP |
| MT | m.9803A>T | CA913182191 | MT-CO3 | c.597A>T (p.Val199=) | |
| MT | m.9804G>A | CA340930 | MT-CO3 | c.598G>A (p.Ala200Thr) | ClinVar dbSNP |
| MT | m.9804G>C | CA414803748 | MT-CO3 | c.598G>C (p.Ala200Pro) | ClinVar dbSNP |
| MT | m.9804G= | CA2499566471 | MT-CO3 | c.598G= (p.Ala200=) | |
| MT | m.9804G>T | CA414803749 | MT-CO3 | c.598G>T (p.Ala200Ser) | ClinVar dbSNP |
| MT | m.9805C>A | CA414803750 | MT-CO3 | c.599C>A (p.Ala200Asp) | |
| MT | m.9805C= | CA2573324208 | MT-CO3 | c.599C= (p.Ala200=) | |
| MT | m.9805C>G | CA414803751 | MT-CO3 | c.599C>G (p.Ala200Gly) | |
| MT | m.9805C>T | CA414803752 | MT-CO3 | c.599C>T (p.Ala200Val) | |
| MT | m.9806C>A | CA913182199 | MT-CO3 | c.600C>A (p.Ala200=) | dbSNP |
| MT | m.9806C= | CA2499566472 | MT-CO3 | c.600C= (p.Ala200=) | |
| MT | m.9806C>G | CA913182198 | MT-CO3 | c.600C>G (p.Ala200=) | |
| MT | m.9806C>T | CA913182196 | MT-CO3 | c.600C>T (p.Ala200=) | |
| MT | m.9807A= | CA2573324213 | MT-CO3 | c.601A= (p.Thr201=) | |
| MT | m.9807A>C | CA414803753 | MT-CO3 | c.601A>C (p.Thr201Pro) | |
| MT | m.9807A>G | CA414803754 | MT-CO3 | c.601A>G (p.Thr201Ala) | |
| MT | m.9807A>T | CA414803755 | MT-CO3 | c.601A>T (p.Thr201Ser) | |
| MT | m.9808C>A | CA414803757 | MT-CO3 | c.602C>A (p.Thr201Lys) | |
| MT | m.9808C= | CA2513697181 | MT-CO3 | c.602C= (p.Thr201=) | |
| MT | m.9808C>G | CA414803758 | MT-CO3 | c.602C>G (p.Thr201Arg) | |
| MT | m.9808C>T | CA414803756 | MT-CO3 | c.602C>T (p.Thr201Ile) | |
| MT | m.9809A= | CA2499566473 | MT-CO3 | c.603A= (p.Thr201=) | |
| MT | m.9809A>C | CA913182204 | MT-CO3 | c.603A>C (p.Thr201=) | dbSNP |
| MT | m.9809A>G | CA913182203 | MT-CO3 | c.603A>G (p.Thr201=) | dbSNP |
| MT | m.9809A>T | CA913182202 | MT-CO3 | c.603A>T (p.Thr201=) | |
| MT | m.9810G>A | CA414803759 | MT-CO3 | c.604G>A (p.Gly202Ser) | |
| MT | m.9810G>C | CA414803761 | MT-CO3 | c.604G>C (p.Gly202Arg) | |
| MT | m.9810G= | CA2573324222 | MT-CO3 | c.604G= (p.Gly202=) | |
| MT | m.9810G>T | CA414803760 | MT-CO3 | c.604G>T (p.Gly202Cys) | |
| MT | m.9811G>A | CA414803762 | MT-CO3 | c.605G>A (p.Gly202Asp) | |
| MT | m.9811G>C | CA414803764 | MT-CO3 | c.605G>C (p.Gly202Ala) | |
| MT | m.9811G= | CA2573324225 | MT-CO3 | c.605G= (p.Gly202=) | |
| MT | m.9811G>T | CA414803763 | MT-CO3 | c.605G>T (p.Gly202Val) | |
| MT | m.9812C>A | CA913182211 | MT-CO3 | c.606C>A (p.Gly202=) | |
| MT | m.9812C= | CA2499566474 | MT-CO3 | c.606C= (p.Gly202=) | |
| MT | m.9812C>G | CA913182210 | MT-CO3 | c.606C>G (p.Gly202=) | |
| MT | m.9812C>T | CA913182209 | MT-CO3 | c.606C>T (p.Gly202=) | dbSNP |
| MT | m.9813T>A | CA414803765 | MT-CO3 | c.607T>A (p.Phe203Ile) | ClinVar dbSNP |
| MT | m.9813T>C | CA414803766 | MT-CO3 | c.607T>C (p.Phe203Leu) | ClinVar dbSNP |
| MT | m.9813T>G | CA414803767 | MT-CO3 | c.607T>G (p.Phe203Val) | |
| MT | m.9813T= | CA2499566475 | MT-CO3 | c.607T= (p.Phe203=) | |
| MT | m.9814T>A | CA414803768 | MT-CO3 | c.608T>A (p.Phe203Tyr) | |
| MT | m.9814T>C | CA414803769 | MT-CO3 | c.608T>C (p.Phe203Ser) | |
| MT | m.9814T>G | CA414803770 | MT-CO3 | c.608T>G (p.Phe203Cys) | |
| MT | m.9814T= | CA2513247001 | MT-CO3 | c.608T= (p.Phe203=) | |
| MT | m.9815C>A | CA414803771 | MT-CO3 | c.609C>A (p.Phe203Leu) | dbSNP |
| MT | m.9815C= | CA2499566476 | MT-CO3 | c.609C= (p.Phe203=) | |
| MT | m.9815C>G | CA414803772 | MT-CO3 | c.609C>G (p.Phe203Leu) | |
| MT | m.9815C>T | CA913182215 | MT-CO3 | c.609C>T (p.Phe203=) | dbSNP |
| MT | m.9816C>A | CA414803773 | MT-CO3 | c.610C>A (p.His204Asn) | |
| MT | m.9816C= | CA2573324240 | MT-CO3 | c.610C= (p.His204=) | |
| MT | m.9816C>G | CA414803774 | MT-CO3 | c.610C>G (p.His204Asp) | |
| MT | m.9816C>T | CA414803775 | MT-CO3 | c.610C>T (p.His204Tyr) | |
| MT | m.9817A= | CA2573324244 | MT-CO3 | c.611A= (p.His204=) | |
| MT | m.9817A>C | CA414803778 | MT-CO3 | c.611A>C (p.His204Pro) | |
| MT | m.9817A>G | CA414803777 | MT-CO3 | c.611A>G (p.His204Arg) | |
| MT | m.9817A>T | CA414803776 | MT-CO3 | c.611A>T (p.His204Leu) | |
| MT | m.9818C>A | CA337098571 | MT-CO3 | c.612C>A (p.His204Gln) | |
| MT | m.9818C= | CA2499566477 | MT-CO3 | c.612C= (p.His204=) | |
| MT | m.9818C>G | CA337098574 | MT-CO3 | c.612C>G (p.His204Gln) | |
| MT | m.9818C>T | CA337098568 | MT-CO3 | c.612C>T (p.His204=) | dbSNP |
| MT | m.9819G>A | CA414803779 | MT-CO3 | c.613G>A (p.Gly205Arg) | ClinVar dbSNP |
| MT | m.9819G>C | CA414803780 | MT-CO3 | c.613G>C (p.Gly205Arg) | |
| MT | m.9819G= | CA2499566478 | MT-CO3 | c.613G= (p.Gly205=) | |
| MT | m.9819G>T | CA414803781 | MT-CO3 | c.613G>T (p.Gly205Ter) | |
| MT | m.9820G>A | CA414803782 | MT-CO3 | c.614G>A (p.Gly205Glu) | ClinVar dbSNP |
| MT | m.9820G>C | CA414803783 | MT-CO3 | c.614G>C (p.Gly205Ala) | |
| MT | m.9820G= | CA2499566479 | MT-CO3 | c.614G= (p.Gly205=) | |
| MT | m.9820G>T | CA414803784 | MT-CO3 | c.614G>T (p.Gly205Val) | |
| MT | m.9821A= | CA2499566480 | MT-CO3 | c.615A= (p.Gly205=) | |
| MT | m.9821A>C | CA913182222 | MT-CO3 | c.615A>C (p.Gly205=) | |
| MT | m.9821A>G | CA913182221 | MT-CO3 | c.615A>G (p.Gly205=) | dbSNP |
| MT | m.9821A>T | CA913182220 | MT-CO3 | c.615A>T (p.Gly205=) | |
| MT | m.9822C>A | CA414803785 | MT-CO3 | c.616C>A (p.Leu206Ile) | |
| MT | m.9822C= | CA2499566481 | MT-CO3 | c.616C= (p.Leu206=) | |
| MT | m.9822C>G | CA414803786 | MT-CO3 | c.616C>G (p.Leu206Val) | |
| MT | m.9822C>T | CA414803787 | MT-CO3 | c.616C>T (p.Leu206Phe) | ClinVar dbSNP |
| MT | m.9822_9823insCTTTT | CA2573105042 | MT-CO3 | c.616_617insCTTTT (p.Leu206ProfsTer20) | |
| MT | m.9823T>A | CA414803788 | MT-CO3 | c.617T>A (p.Leu206His) | |
| MT | m.9823T>C | CA414803790 | MT-CO3 | c.617T>C (p.Leu206Pro) | |
| MT | m.9823T>G | CA414803789 | MT-CO3 | c.617T>G (p.Leu206Arg) | |
| MT | m.9823T= | CA2573324264 | MT-CO3 | c.617T= (p.Leu206=) | |
| MT | m.9824T>A | CA913182226 | MT-CO3 | c.618T>A (p.Leu206=) | dbSNP |
| MT | m.9824T>C | CA337098577 | MT-CO3 | c.618T>C (p.Leu206=) | dbSNP |
| MT | m.9824T>G | CA913182225 | MT-CO3 | c.618T>G (p.Leu206=) | |
| MT | m.9824T= | CA2499566482 | MT-CO3 | c.618T= (p.Leu206=) | |
| MT | m.9825C>A | CA414803791 | MT-CO3 | c.619C>A (p.His207Asn) | |
| MT | m.9825C= | CA2573324269 | MT-CO3 | c.619C= (p.His207=) | |
| MT | m.9825C>G | CA414803792 | MT-CO3 | c.619C>G (p.His207Asp) | |
| MT | m.9825C>T | CA414803793 | MT-CO3 | c.619C>T (p.His207Tyr) | |
| MT | m.9826A= | CA2573324271 | MT-CO3 | c.620A= (p.His207=) | |
| MT | m.9826A>C | CA414803794 | MT-CO3 | c.620A>C (p.His207Pro) | |
| MT | m.9826A>G | CA414803795 | MT-CO3 | c.620A>G (p.His207Arg) | |
| MT | m.9826A>T | CA414803796 | MT-CO3 | c.620A>T (p.His207Leu) | |
| MT | m.9827C>A | CA414803797 | MT-CO3 | c.621C>A (p.His207Gln) | |
| MT | m.9827C= | CA2499566483 | MT-CO3 | c.621C= (p.His207=) | |
| MT | m.9827C>G | CA414803798 | MT-CO3 | c.621C>G (p.His207Gln) | |
| MT | m.9827C>T | CA913182230 | MT-CO3 | c.621C>T (p.His207=) | dbSNP |
| MT | m.9828G>A | CA414803799 | MT-CO3 | c.622G>A (p.Val208Ile) | ClinVar dbSNP |
| MT | m.9828G>C | CA414803800 | MT-CO3 | c.622G>C (p.Val208Leu) | |
| MT | m.9828G= | CA2499566484 | MT-CO3 | c.622G= (p.Val208=) | |
| MT | m.9828G>T | CA414803801 | MT-CO3 | c.622G>T (p.Val208Phe) | |
| MT | m.9829T>A | CA414803802 | MT-CO3 | c.623T>A (p.Val208Asp) | |
| MT | m.9829T>C | CA414803804 | MT-CO3 | c.623T>C (p.Val208Ala) | |
| MT | m.9829T>G | CA414803803 | MT-CO3 | c.623T>G (p.Val208Gly) | |
| MT | m.9829T= | CA2573324282 | MT-CO3 | c.623T= (p.Val208=) | |
| MT | m.9830C>A | CA913182234 | MT-CO3 | c.624C>A (p.Val208=) | |
| MT | m.9830C= | CA2499566485 | MT-CO3 | c.624C= (p.Val208=) | |
| MT | m.9830C>G | CA913182233 | MT-CO3 | c.624C>G (p.Val208=) | |
| MT | m.9830C>T | CA913182232 | MT-CO3 | c.624C>T (p.Val208=) | dbSNP |
| MT | m.9831A= | CA2573324286 | MT-CO3 | c.625A= (p.Ile209=) | |
| MT | m.9831A>C | CA414803805 | MT-CO3 | c.625A>C (p.Ile209Leu) | |
| MT | m.9831A>G | CA414803806 | MT-CO3 | c.625A>G (p.Ile209Val) | dbSNP |
| MT | m.9831A>T | CA414803807 | MT-CO3 | c.625A>T (p.Ile209Phe) | |
| MT | m.9832T>A | CA414803808 | MT-CO3 | c.626T>A (p.Ile209Asn) | |
| MT | m.9832T>C | CA414803809 | MT-CO3 | c.626T>C (p.Ile209Thr) | |
| MT | m.9832T>G | CA414803810 | MT-CO3 | c.626T>G (p.Ile209Ser) | |
| MT | m.9832T= | CA2573324288 | MT-CO3 | c.626T= (p.Ile209=) | |
| MT | m.9833T>A | CA913182237 | MT-CO3 | c.627T>A (p.Ile209=) | |
| MT | m.9833T>C | CA337098580 | MT-CO3 | c.627T>C (p.Ile209=) | dbSNP |
| MT | m.9833T>G | CA414803811 | MT-CO3 | c.627T>G (p.Ile209Met) | |
| MT | m.9833T= | CA2499566486 | MT-CO3 | c.627T= (p.Ile209=) | |
| MT | m.9834A= | CA2573324292 | MT-CO3 | c.628A= (p.Ile210=) | |
| MT | m.9834A>C | CA414803814 | MT-CO3 | c.628A>C (p.Ile210Leu) | |
| MT | m.9834A>G | CA414803813 | MT-CO3 | c.628A>G (p.Ile210Val) | |
| MT | m.9834A>T | CA414803812 | MT-CO3 | c.628A>T (p.Ile210Phe) | |
| MT | m.9835T>A | CA414803815 | MT-CO3 | c.629T>A (p.Ile210Asn) | |
| MT | m.9835T>C | CA414803817 | MT-CO3 | c.629T>C (p.Ile210Thr) | dbSNP |
| MT | m.9835T>G | CA414803816 | MT-CO3 | c.629T>G (p.Ile210Ser) | |
| MT | m.9835T= | CA2499566487 | MT-CO3 | c.629T= (p.Ile210=) | |
| MT | m.9836T>A | CA913182240 | MT-CO3 | c.630T>A (p.Ile210=) | |
| MT | m.9836T>C | CA913182239 | MT-CO3 | c.630T>C (p.Ile210=) | dbSNP |
| MT | m.9836T>G | CA414803818 | MT-CO3 | c.630T>G (p.Ile210Met) | |
| MT | m.9836T= | CA2499566488 | MT-CO3 | c.630T= (p.Ile210=) | |
| MT | m.9837G>A | CA414803819 | MT-CO3 | c.631G>A (p.Gly211Ser) | ClinVar dbSNP |
| MT | m.9837G>C | CA414803820 | MT-CO3 | c.631G>C (p.Gly211Arg) | |
| MT | m.9837G= | CA2499566489 | MT-CO3 | c.631G= (p.Gly211=) | |
| MT | m.9837G>T | CA414803821 | MT-CO3 | c.631G>T (p.Gly211Cys) | |
| MT | m.9838G>A | CA414803822 | MT-CO3 | c.632G>A (p.Gly211Asp) | ClinVar dbSNP |
| MT | m.9838G>C | CA414803823 | MT-CO3 | c.632G>C (p.Gly211Ala) | |
| MT | m.9838G= | CA2499566490 | MT-CO3 | c.632G= (p.Gly211=) | |
| MT | m.9838G>T | CA414803824 | MT-CO3 | c.632G>T (p.Gly211Val) | dbSNP |
| MT | m.9839C>A | CA913182244 | MT-CO3 | c.633C>A (p.Gly211=) | |
| MT | m.9839C= | CA2573324304 | MT-CO3 | c.633C= (p.Gly211=) | |
| MT | m.9839C>G | CA913182243 | MT-CO3 | c.633C>G (p.Gly211=) | |
| MT | m.9839C>T | CA913182241 | MT-CO3 | c.633C>T (p.Gly211=) | |
| MT | m.9840T>A | CA414803825 | MT-CO3 | c.634T>A (p.Ser212Thr) | dbSNP |
| MT | m.9840T>C | CA414803826 | MT-CO3 | c.634T>C (p.Ser212Pro) | |
| MT | m.9840T>G | CA414803827 | MT-CO3 | c.634T>G (p.Ser212Ala) | |
| MT | m.9840T= | CA2499566491 | MT-CO3 | c.634T= (p.Ser212=) | |
| MT | m.9841C>A | CA414803830 | MT-CO3 | c.635C>A (p.Ser212Ter) | |
| MT | m.9841C= | CA2499566492 | MT-CO3 | c.635C= (p.Ser212=) | |
| MT | m.9841C>G | CA414803829 | MT-CO3 | c.635C>G (p.Ser212Ter) | |
| MT | m.9841C>T | CA414803828 | MT-CO3 | c.635C>T (p.Ser212Leu) | dbSNP |
| MT | m.9842A= | CA2573324310 | MT-CO3 | c.636A= (p.Ser212=) | |
| MT | m.9842A>C | CA913182250 | MT-CO3 | c.636A>C (p.Ser212=) | |
| MT | m.9842A>G | CA913182248 | MT-CO3 | c.636A>G (p.Ser212=) | |
| MT | m.9842A>T | CA913182247 | MT-CO3 | c.636A>T (p.Ser212=) | |
| MT | m.9843A= | CA2499566493 | MT-CO3 | c.637A= (p.Thr213=) | |
| MT | m.9843A>C | CA414803831 | MT-CO3 | c.637A>C (p.Thr213Pro) | |
| MT | m.9843A>G | CA414803832 | MT-CO3 | c.637A>G (p.Thr213Ala) | ClinVar dbSNP |
| MT | m.9843A>T | CA414803833 | MT-CO3 | c.637A>T (p.Thr213Ser) | |
| MT | m.9844C>A | CA414803834 | MT-CO3 | c.638C>A (p.Thr213Asn) | |
| MT | m.9844C= | CA2499566494 | MT-CO3 | c.638C= (p.Thr213=) | |
| MT | m.9844C>G | CA414803835 | MT-CO3 | c.638C>G (p.Thr213Ser) | |
| MT | m.9844C>T | CA414803836 | MT-CO3 | c.638C>T (p.Thr213Ile) | ClinVar dbSNP |
| MT | m.9845T>A | CA913182256 | MT-CO3 | c.639T>A (p.Thr213=) | |
| MT | m.9845T>C | CA337098585 | MT-CO3 | c.639T>C (p.Thr213=) | dbSNP |
| MT | m.9845T>G | CA913182255 | MT-CO3 | c.639T>G (p.Thr213=) | |
| MT | m.9845T= | CA2499566495 | MT-CO3 | c.639T= (p.Thr213=) | |
| MT | m.9846T>A | CA414803837 | MT-CO3 | c.640T>A (p.Phe214Ile) | |
| MT | m.9846T>C | CA414803838 | MT-CO3 | c.640T>C (p.Phe214Leu) | |
| MT | m.9846T>G | CA414803839 | MT-CO3 | c.640T>G (p.Phe214Val) | |
| MT | m.9846T= | CA2573324325 | MT-CO3 | c.640T= (p.Phe214=) | |
| MT | m.9847T>A | CA414803842 | MT-CO3 | c.641T>A (p.Phe214Tyr) | |
| MT | m.9847T>C | CA414803841 | MT-CO3 | c.641T>C (p.Phe214Ser) | |
| MT | m.9847T>G | CA414803840 | MT-CO3 | c.641T>G (p.Phe214Cys) | |
| MT | m.9847T= | CA2573324328 | MT-CO3 | c.641T= (p.Phe214=) | |
| MT | m.9848C>A | CA414803843 | MT-CO3 | c.642C>A (p.Phe214Leu) | |
| MT | m.9848C= | CA2573324330 | MT-CO3 | c.642C= (p.Phe214=) | |
| MT | m.9848C>G | CA414803844 | MT-CO3 | c.642C>G (p.Phe214Leu) | |
| MT | m.9848C>T | CA913182257 | MT-CO3 | c.642C>T (p.Phe214=) | |
| MT | m.9849C>A | CA414803845 | MT-CO3 | c.643C>A (p.Leu215Ile) | |
| MT | m.9849C= | CA2573324332 | MT-CO3 | c.643C= (p.Leu215=) | |
| MT | m.9849C>G | CA414803846 | MT-CO3 | c.643C>G (p.Leu215Val) | |
| MT | m.9849C>T | CA414803847 | MT-CO3 | c.643C>T (p.Leu215Phe) | |
| MT | m.9850T>A | CA414803848 | MT-CO3 | c.644T>A (p.Leu215His) | |
| MT | m.9850T>C | CA414803849 | MT-CO3 | c.644T>C (p.Leu215Pro) | dbSNP |
| MT | m.9850T>G | CA414803850 | MT-CO3 | c.644T>G (p.Leu215Arg) | |
| MT | m.9850T= | CA2499566496 | MT-CO3 | c.644T= (p.Leu215=) | |
| MT | m.9851C>A | CA913182262 | MT-CO3 | c.645C>A (p.Leu215=) | |
| MT | m.9851C= | CA2499566497 | MT-CO3 | c.645C= (p.Leu215=) | |
| MT | m.9851C>G | CA913182261 | MT-CO3 | c.645C>G (p.Leu215=) | |
| MT | m.9851C>T | CA337098588 | MT-CO3 | c.645C>T (p.Leu215=) | dbSNP |
| MT | m.9852A= | CA2499566498 | MT-CO3 | c.646A= (p.Thr216=) | |
| MT | m.9852A>C | CA414803851 | MT-CO3 | c.646A>C (p.Thr216Pro) | |
| MT | m.9852A>G | CA414803852 | MT-CO3 | c.646A>G (p.Thr216Ala) | ClinVar dbSNP |
| MT | m.9852A>T | CA414803853 | MT-CO3 | c.646A>T (p.Thr216Ser) | |
| MT | m.9853C>A | CA414803856 | MT-CO3 | c.647C>A (p.Thr216Asn) | |
| MT | m.9853C= | CA2499566499 | MT-CO3 | c.647C= (p.Thr216=) | |
| MT | m.9853C>G | CA414803854 | MT-CO3 | c.647C>G (p.Thr216Ser) | |
| MT | m.9853C>T | CA414803855 | MT-CO3 | c.647C>T (p.Thr216Ile) | dbSNP |
| MT | m.9854T>A | CA913182268 | MT-CO3 | c.648T>A (p.Thr216=) | |
| MT | m.9854T>C | CA913182267 | MT-CO3 | c.648T>C (p.Thr216=) | dbSNP |
| MT | m.9854T>G | CA913182266 | MT-CO3 | c.648T>G (p.Thr216=) | |
| MT | m.9854T= | CA2499566500 | MT-CO3 | c.648T= (p.Thr216=) | |
| MT | m.9855A= | CA2499566501 | MT-CO3 | c.649A= (p.Ile217=) | |
| MT | m.9855A>C | CA414803857 | MT-CO3 | c.649A>C (p.Ile217Leu) | |
| MT | m.9855A>G | CA337098591 | MT-CO3 | c.649A>G (p.Ile217Val) | ClinVar dbSNP |
| MT | m.9855A>T | CA414803858 | MT-CO3 | c.649A>T (p.Ile217Phe) | |
| MT | m.9856T>A | CA414803859 | MT-CO3 | c.650T>A (p.Ile217Asn) | |
| MT | m.9856T>C | CA414803860 | MT-CO3 | c.650T>C (p.Ile217Thr) | ClinVar dbSNP |
| MT | m.9856T>G | CA414803861 | MT-CO3 | c.650T>G (p.Ile217Ser) | |
| MT | m.9856T= | CA2499566502 | MT-CO3 | c.650T= (p.Ile217=) | |
| MT | m.9857C>A | CA913182271 | MT-CO3 | c.651C>A (p.Ile217=) | |
| MT | m.9857C= | CA2573324357 | MT-CO3 | c.651C= (p.Ile217=) | |
| MT | m.9857C>G | CA414803862 | MT-CO3 | c.651C>G (p.Ile217Met) | |
| MT | m.9857C>T | CA913182270 | MT-CO3 | c.651C>T (p.Ile217=) | |
| MT | m.9858T>A | CA414803863 | MT-CO3 | c.652T>A (p.Cys218Ser) | |
| MT | m.9858T>C | CA414803864 | MT-CO3 | c.652T>C (p.Cys218Arg) | |
| MT | m.9858T>G | CA414803865 | MT-CO3 | c.652T>G (p.Cys218Gly) | |
| MT | m.9858T= | CA2573324359 | MT-CO3 | c.652T= (p.Cys218=) | |
| MT | m.9859G>A | CA414803868 | MT-CO3 | c.653G>A (p.Cys218Tyr) | COSMIC COSMIC |
| MT | m.9859G>C | CA414803867 | MT-CO3 | c.653G>C (p.Cys218Ser) | |
| MT | m.9859G= | CA2573324362 | MT-CO3 | c.653G= (p.Cys218=) | |
| MT | m.9859G>T | CA414803866 | MT-CO3 | c.653G>T (p.Cys218Phe) | |
| MT | m.9860C>A | CA414803869 | MT-CO3 | c.654C>A (p.Cys218Ter) | |
| MT | m.9860C= | CA2513017884 | MT-CO3 | c.654C= (p.Cys218=) | |
| MT | m.9860C>G | CA414803870 | MT-CO3 | c.654C>G (p.Cys218Trp) | |
| MT | m.9860C>T | CA913182276 | MT-CO3 | c.654C>T (p.Cys218=) | |
| MT | m.9861T>A | CA414803871 | MT-CO3 | c.655T>A (p.Phe219Ile) | |
| MT | m.9861T>C | CA10581347 | MT-CO3 | c.655T>C (p.Phe219Leu) | ClinVar dbSNP |
| MT | m.9861T>G | CA414803872 | MT-CO3 | c.655T>G (p.Phe219Val) | |
| MT | m.9861T= | CA2499566503 | MT-CO3 | c.655T= (p.Phe219=) | |
| MT | m.9862T>A | CA414803873 | MT-CO3 | c.656T>A (p.Phe219Tyr) | ClinVar dbSNP |
| MT | m.9862T>C | CA414803874 | MT-CO3 | c.656T>C (p.Phe219Ser) | |
| MT | m.9862T>G | CA414803875 | MT-CO3 | c.656T>G (p.Phe219Cys) | |
| MT | m.9862T= | CA2499566504 | MT-CO3 | c.656T= (p.Phe219=) | |
| MT | m.9863C>A | CA414803876 | MT-CO3 | c.657C>A (p.Phe219Leu) | |
| MT | m.9863C= | CA2573324374 | MT-CO3 | c.657C= (p.Phe219=) | |
| MT | m.9863C>G | CA414803877 | MT-CO3 | c.657C>G (p.Phe219Leu) | |
| MT | m.9863C>T | CA913182280 | MT-CO3 | c.657C>T (p.Phe219=) |