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.9908C>A | CA913182325 | MT-CO3 | c.702C>A (p.Gly234=) | |
| MT | m.9908C= | CA2499566518 | MT-CO3 | c.702C= (p.Gly234=) | |
| MT | m.9908C>G | CA913182324 | MT-CO3 | c.702C>G (p.Gly234=) | |
| MT | m.9908C>T | CA913182323 | MT-CO3 | c.702C>T (p.Gly234=) | dbSNP |
| MT | m.9909T>A | CA414803982 | MT-CO3 | c.703T>A (p.Phe235Ile) | |
| MT | m.9909T>C | CA337098606 | MT-CO3 | c.703T>C (p.Phe235Leu) | ClinVar dbSNP |
| MT | m.9909T>G | CA414803983 | MT-CO3 | c.703T>G (p.Phe235Val) | |
| MT | m.9909T= | CA2499566519 | MT-CO3 | c.703T= (p.Phe235=) | |
| MT | m.9910T>A | CA414803984 | MT-CO3 | c.704T>A (p.Phe235Tyr) | |
| MT | m.9910T>C | CA414803985 | MT-CO3 | c.704T>C (p.Phe235Ser) | |
| MT | m.9910T>G | CA414803986 | MT-CO3 | c.704T>G (p.Phe235Cys) | |
| MT | m.9910T= | CA2573324517 | MT-CO3 | c.704T= (p.Phe235=) | |
| MT | m.9911C>A | CA414803987 | MT-CO3 | c.705C>A (p.Phe235Leu) | ClinVar dbSNP |
| MT | m.9911C= | CA2499566520 | MT-CO3 | c.705C= (p.Phe235=) | |
| MT | m.9911C>G | CA337098610 | MT-CO3 | c.705C>G (p.Phe235Leu) | dbSNP |
| MT | m.9911C>T | CA337098613 | MT-CO3 | c.705C>T (p.Phe235=) | dbSNP |
| MT | m.9912G>A | CA337098616 | MT-CO3 | c.706G>A (p.Glu236Lys) | dbSNP |
| MT | m.9912G>C | CA414803988 | MT-CO3 | c.706G>C (p.Glu236Gln) | |
| MT | m.9912G= | CA2499566521 | MT-CO3 | c.706G= (p.Glu236=) | |
| MT | m.9912G>T | CA414803989 | MT-CO3 | c.706G>T (p.Glu236Ter) | |
| MT | m.9913A= | CA2573324525 | MT-CO3 | c.707A= (p.Glu236=) | |
| MT | m.9913A>C | CA414803992 | MT-CO3 | c.707A>C (p.Glu236Ala) | |
| MT | m.9913A>G | CA414803991 | MT-CO3 | c.707A>G (p.Glu236Gly) | |
| MT | m.9913A>T | CA414803990 | MT-CO3 | c.707A>T (p.Glu236Val) | |
| MT | m.9914A= | CA2499566522 | MT-CO3 | c.708A= (p.Glu236=) | |
| MT | m.9914A>C | CA414803993 | MT-CO3 | c.708A>C (p.Glu236Asp) | |
| MT | m.9914A>G | CA913182334 | MT-CO3 | c.708A>G (p.Glu236=) | dbSNP |
| MT | m.9914A>T | CA414803994 | MT-CO3 | c.708A>T (p.Glu236Asp) | |
| MT | m.9915G>A | CA414803995 | MT-CO3 | c.709G>A (p.Ala237Thr) | COSMIC COSMIC |
| MT | m.9915G>C | CA414803996 | MT-CO3 | c.709G>C (p.Ala237Pro) | |
| MT | m.9915G= | CA2573324532 | MT-CO3 | c.709G= (p.Ala237=) | |
| MT | m.9915G>T | CA414803997 | MT-CO3 | c.709G>T (p.Ala237Ser) | |
| MT | m.9916C>A | CA414803998 | MT-CO3 | c.710C>A (p.Ala237Asp) | |
| MT | m.9916C= | CA2573324535 | MT-CO3 | c.710C= (p.Ala237=) | |
| MT | m.9916C>G | CA414803999 | MT-CO3 | c.710C>G (p.Ala237Gly) | |
| MT | m.9916C>T | CA414804000 | MT-CO3 | c.710C>T (p.Ala237Val) | |
| MT | m.9917C>A | CA913182339 | MT-CO3 | c.711C>A (p.Ala237=) | |
| MT | m.9917C= | CA2499566523 | MT-CO3 | c.711C= (p.Ala237=) | |
| MT | m.9917C>G | CA913182338 | MT-CO3 | c.711C>G (p.Ala237=) | |
| MT | m.9917C>T | CA913182337 | MT-CO3 | c.711C>T (p.Ala237=) | dbSNP |
| MT | m.9918G>A | CA414804001 | MT-CO3 | c.712G>A (p.Ala238Thr) | |
| MT | m.9918G>C | CA414804002 | MT-CO3 | c.712G>C (p.Ala238Pro) | |
| MT | m.9918G= | CA2573324542 | MT-CO3 | c.712G= (p.Ala238=) | |
| MT | m.9918G>T | CA414804003 | MT-CO3 | c.712G>T (p.Ala238Ser) | |
| MT | m.9919C>A | CA414804006 | MT-CO3 | c.713C>A (p.Ala238Asp) | |
| MT | m.9919C= | CA2573324545 | MT-CO3 | c.713C= (p.Ala238=) | |
| MT | m.9919C>G | CA414804005 | MT-CO3 | c.713C>G (p.Ala238Gly) | |
| MT | m.9919C>T | CA414804004 | MT-CO3 | c.713C>T (p.Ala238Val) | |
| MT | m.9920C>A | CA913182345 | MT-CO3 | c.714C>A (p.Ala238=) | |
| MT | m.9920C= | CA2573324548 | MT-CO3 | c.714C= (p.Ala238=) | |
| MT | m.9920C>G | CA913182344 | MT-CO3 | c.714C>G (p.Ala238=) | |
| MT | m.9920C>T | CA913182343 | MT-CO3 | c.714C>T (p.Ala238=) | |
| MT | m.9921_9922del | CA2739235107 | MT-CO3 | c.715_716del (p.Ala239LeufsTer?) | dbSNP |
| MT | m.9921G>A | CA414804009 | MT-CO3 | c.715G>A (p.Ala239Thr) | ClinVar dbSNP |
| MT | m.9921G>C | CA414804007 | MT-CO3 | c.715G>C (p.Ala239Pro) | |
| MT | m.9921G= | CA2499566524 | MT-CO3 | c.715G= (p.Ala239=) | |
| MT | m.9921G>T | CA414804008 | MT-CO3 | c.715G>T (p.Ala239Ser) | |
| MT | m.9922C>A | CA414804010 | MT-CO3 | c.716C>A (p.Ala239Asp) | |
| MT | m.9922C= | CA2499566525 | MT-CO3 | c.716C= (p.Ala239=) | |
| MT | m.9922C>G | CA414804011 | MT-CO3 | c.716C>G (p.Ala239Gly) | |
| MT | m.9922C>T | CA414804012 | MT-CO3 | c.716C>T (p.Ala239Val) | ClinVar dbSNP |
| MT | m.9923C>A | CA913182350 | MT-CO3 | c.717C>A (p.Ala239=) | |
| MT | m.9923C= | CA2499566526 | MT-CO3 | c.717C= (p.Ala239=) | |
| MT | m.9923C>G | CA913182349 | MT-CO3 | c.717C>G (p.Ala239=) | |
| MT | m.9923C>T | CA337098619 | MT-CO3 | c.717C>T (p.Ala239=) | dbSNP |
| MT | m.9924T>A | CA414804013 | MT-CO3 | c.718T>A (p.Ter240Arg) | |
| MT | m.9924T>C | CA414804014 | MT-CO3 | c.718T>C (p.Ter240Arg) | |
| MT | m.9924T>G | CA414804015 | MT-CO3 | c.718T>G (p.Ter240Gly) | |
| MT | m.9924T= | CA414804016 | MT-CO3 | c.718T= (p.Ter240=) | |
| MT | m.9925G>A | CA414804020 | MT-CO3 | c.719G>A (p.Ter240=) | |
| MT | m.9925G>C | CA414804019 | MT-CO3 | c.719G>C (p.Ter240Ser) | |
| MT | m.9925G= | CA414804018 | MT-CO3 | c.719G= (p.Ter240=) | |
| MT | m.9925G>T | CA414804017 | MT-CO3 | c.719G>T (p.Ter240Leu) | |
| MT | m.9926A= | CA414804021 | MT-CO3 | c.720A= (p.Ter240=) | |
| MT | m.9926A>C | CA414804022 | MT-CO3 | c.720A>C (p.Ter240Cys) | |
| MT | m.9926A>G | CA414804023 | MT-CO3 | c.720A>G (p.Ter240Trp) | dbSNP |
| MT | m.9926A>T | CA414804024 | MT-CO3 | c.720A>T (p.Ter240Cys) | |
| MT | m.9927T>A | CA414804025 | MT-CO3 | c.721T>A (p.Tyr241Asn) | |
| MT | m.9927T>C | CA414804026 | MT-CO3 | c.721T>C (p.Tyr241His) | COSMIC COSMIC |
| MT | m.9927T>G | CA414804027 | MT-CO3 | c.721T>G (p.Tyr241Asp) | |
| MT | m.9927T= | CA2573324570 | MT-CO3 | c.721T= (p.Tyr241=) | |
| MT | m.9928A= | CA2499566527 | MT-CO3 | c.722A= (p.Tyr241=) | |
| MT | m.9928A>C | CA414804028 | MT-CO3 | c.722A>C (p.Tyr241Ser) | |
| MT | m.9928A>G | CA414804029 | MT-CO3 | c.722A>G (p.Tyr241Cys) | dbSNP |
| MT | m.9928A>T | CA414804030 | MT-CO3 | c.722A>T (p.Tyr241Phe) | |
| MT | m.9929C>A | CA414804031 | MT-CO3 | c.723C>A (p.Tyr241Ter) | |
| MT | m.9929C= | CA2573324576 | MT-CO3 | c.723C= (p.Tyr241=) | |
| MT | m.9929C>G | CA414804032 | MT-CO3 | c.723C>G (p.Tyr241Ter) | |
| MT | m.9929C>T | CA913182355 | MT-CO3 | c.723C>T (p.Tyr241=) | |
| MT | m.9930T>A | CA414804035 | MT-CO3 | c.724T>A (p.Trp242Arg) | |
| MT | m.9930T>C | CA414804034 | MT-CO3 | c.724T>C (p.Trp242Arg) | |
| MT | m.9930T>G | CA414804033 | MT-CO3 | c.724T>G (p.Trp242Gly) | |
| MT | m.9930T= | CA2573324578 | MT-CO3 | c.724T= (p.Trp242=) | |
| MT | m.9931G>A | CA414804036 | MT-CO3 | c.725G>A (p.Trp242Ter) | |
| MT | m.9931G>C | CA414804038 | MT-CO3 | c.725G>C (p.Trp242Ser) | |
| MT | m.9931G= | CA2573324581 | MT-CO3 | c.725G= (p.Trp242=) | |
| MT | m.9931G>T | CA414804037 | MT-CO3 | c.725G>T (p.Trp242Leu) | |
| MT | m.9932G>A | CA337098622 | MT-CO3 | c.726G>A (p.Trp242Ter) | dbSNP COSMIC COSMIC |
| MT | m.9932G>C | CA414804039 | MT-CO3 | c.726G>C (p.Trp242Cys) | |
| MT | m.9932G= | CA2499566528 | MT-CO3 | c.726G= (p.Trp242=) | |
| MT | m.9932G>T | CA414804040 | MT-CO3 | c.726G>T (p.Trp242Cys) | |
| MT | m.9933C>A | CA414804041 | MT-CO3 | c.727C>A (p.His243Asn) | |
| MT | m.9933C= | CA2573324585 | MT-CO3 | c.727C= (p.His243=) | |
| MT | m.9933C>G | CA414804042 | MT-CO3 | c.727C>G (p.His243Asp) | |
| MT | m.9933C>T | CA414804043 | MT-CO3 | c.727C>T (p.His243Tyr) | |
| MT | m.9934A= | CA2573324586 | MT-CO3 | c.728A= (p.His243=) | |
| MT | m.9934A>C | CA414804044 | MT-CO3 | c.728A>C (p.His243Pro) | |
| MT | m.9934A>G | CA414804045 | MT-CO3 | c.728A>G (p.His243Arg) | |
| MT | m.9934A>T | CA414804046 | MT-CO3 | c.728A>T (p.His243Leu) | |
| MT | m.9935T>A | CA414804048 | MT-CO3 | c.729T>A (p.His243Gln) | |
| MT | m.9935T>C | CA337098624 | MT-CO3 | c.729T>C (p.His243=) | dbSNP |
| MT | m.9935T>G | CA414804047 | MT-CO3 | c.729T>G (p.His243Gln) | |
| MT | m.9935T= | CA2499566529 | MT-CO3 | c.729T= (p.His243=) | |
| MT | m.9936T>A | CA414804049 | MT-CO3 | c.730T>A (p.Phe244Ile) | |
| MT | m.9936T>C | CA414804050 | MT-CO3 | c.730T>C (p.Phe244Leu) | |
| MT | m.9936T>G | CA414804051 | MT-CO3 | c.730T>G (p.Phe244Val) | |
| MT | m.9936T= | CA2573324595 | MT-CO3 | c.730T= (p.Phe244=) | |
| MT | m.9937T>A | CA414804052 | MT-CO3 | c.731T>A (p.Phe244Tyr) | |
| MT | m.9937T>C | CA414804053 | MT-CO3 | c.731T>C (p.Phe244Ser) | |
| MT | m.9937T>G | CA414804054 | MT-CO3 | c.731T>G (p.Phe244Cys) | |
| MT | m.9937T= | CA2573324597 | MT-CO3 | c.731T= (p.Phe244=) | |
| MT | m.9938T>A | CA414804055 | MT-CO3 | c.732T>A (p.Phe244Leu) | |
| MT | m.9938T>C | CA913182364 | MT-CO3 | c.732T>C (p.Phe244=) | dbSNP |
| MT | m.9938T>G | CA414804056 | MT-CO3 | c.732T>G (p.Phe244Leu) | |
| MT | m.9938T= | CA2499566530 | MT-CO3 | c.732T= (p.Phe244=) | |
| MT | m.9939G>A | CA414804057 | MT-CO3 | c.733G>A (p.Val245Ile) | ClinVar dbSNP |
| MT | m.9939G>C | CA414804058 | MT-CO3 | c.733G>C (p.Val245Leu) | |
| MT | m.9939G= | CA2499566531 | MT-CO3 | c.733G= (p.Val245=) | |
| MT | m.9939G>T | CA414804059 | MT-CO3 | c.733G>T (p.Val245Leu) | |
| MT | m.9940_9942del | CA2573105043 | MT-CO3 | c.734_736del (p.Val245del) | |
| MT | m.9940T>A | CA414804062 | MT-CO3 | c.734T>A (p.Val245Glu) | |
| MT | m.9940T>C | CA414804061 | MT-CO3 | c.734T>C (p.Val245Ala) | |
| MT | m.9940T>G | CA414804060 | MT-CO3 | c.734T>G (p.Val245Gly) | |
| MT | m.9940T= | CA2573324604 | MT-CO3 | c.734T= (p.Val245=) | |
| MT | m.9941A= | CA2499566532 | MT-CO3 | c.735A= (p.Val245=) | |
| MT | m.9941A>C | CA913182369 | MT-CO3 | c.735A>C (p.Val245=) | |
| MT | m.9941A>G | CA913182368 | MT-CO3 | c.735A>G (p.Val245=) | dbSNP |
| MT | m.9941A>T | CA913182367 | MT-CO3 | c.735A>T (p.Val245=) | |
| MT | m.9942G>A | CA337098630 | MT-CO3 | c.736G>A (p.Asp246Asn) | dbSNP |
| MT | m.9942G>C | CA414804063 | MT-CO3 | c.736G>C (p.Asp246His) | |
| MT | m.9942G= | CA2499566533 | MT-CO3 | c.736G= (p.Asp246=) | |
| MT | m.9942G>T | CA414804064 | MT-CO3 | c.736G>T (p.Asp246Tyr) | |
| MT | m.9943A= | CA2573324609 | MT-CO3 | c.737A= (p.Asp246=) | |
| MT | m.9943A>C | CA414804065 | MT-CO3 | c.737A>C (p.Asp246Ala) | |
| MT | m.9943A>G | CA414804066 | MT-CO3 | c.737A>G (p.Asp246Gly) | |
| MT | m.9943A>T | CA414804067 | MT-CO3 | c.737A>T (p.Asp246Val) | |
| MT | m.9944T>A | CA414804068 | MT-CO3 | c.738T>A (p.Asp246Glu) | |
| MT | m.9944T>C | CA913182370 | MT-CO3 | c.738T>C (p.Asp246=) | dbSNP |
| MT | m.9944T>G | CA414804069 | MT-CO3 | c.738T>G (p.Asp246Glu) | |
| MT | m.9944T= | CA2499566534 | MT-CO3 | c.738T= (p.Asp246=) | |
| MT | m.9945G>A | CA414804070 | MT-CO3 | c.739G>A (p.Val247Met) | |
| MT | m.9945G>C | CA414804071 | MT-CO3 | c.739G>C (p.Val247Leu) | |
| MT | m.9945G= | CA2573324614 | MT-CO3 | c.739G= (p.Val247=) | |
| MT | m.9945G>T | CA414804072 | MT-CO3 | c.739G>T (p.Val247Leu) | |
| MT | m.9946T>A | CA414804075 | MT-CO3 | c.740T>A (p.Val247Glu) | |
| MT | m.9946T>C | CA414804074 | MT-CO3 | c.740T>C (p.Val247Ala) | |
| MT | m.9946T>G | CA414804073 | MT-CO3 | c.740T>G (p.Val247Gly) | |
| MT | m.9946T= | CA2573324617 | MT-CO3 | c.740T= (p.Val247=) | |
| MT | m.9947G>A | CA10581346 | MT-CO3 | c.741G>A (p.Val247=) | ClinVar dbSNP |
| MT | m.9947G>C | CA913182375 | MT-CO3 | c.741G>C (p.Val247=) | |
| MT | m.9947G= | CA2499566535 | MT-CO3 | c.741G= (p.Val247=) | |
| MT | m.9947G>T | CA913182374 | MT-CO3 | c.741G>T (p.Val247=) | |
| MT | m.9948G>A | CA414804076 | MT-CO3 | c.742G>A (p.Val248Ile) | ClinVar dbSNP |
| MT | m.9948G>C | CA414804077 | MT-CO3 | c.742G>C (p.Val248Leu) | |
| MT | m.9948G= | CA2499566536 | MT-CO3 | c.742G= (p.Val248=) | |
| MT | m.9948G>T | CA414804078 | MT-CO3 | c.742G>T (p.Val248Phe) | |
| MT | m.9949T>A | CA414804079 | MT-CO3 | c.743T>A (p.Val248Asp) | dbSNP |
| MT | m.9949T>C | CA414804080 | MT-CO3 | c.743T>C (p.Val248Ala) | |
| MT | m.9949T>G | CA414804081 | MT-CO3 | c.743T>G (p.Val248Gly) | |
| MT | m.9949T= | CA2499566537 | MT-CO3 | c.743T= (p.Val248=) | |
| MT | m.9950T>A | CA913182379 | MT-CO3 | c.744T>A (p.Val248=) | |
| MT | m.9950T>C | CA337098637 | MT-CO3 | c.744T>C (p.Val248=) | dbSNP |
| MT | m.9950T>G | CA913182380 | MT-CO3 | c.744T>G (p.Val248=) | |
| MT | m.9950T= | CA2499566538 | MT-CO3 | c.744T= (p.Val248=) | |
| MT | m.9951T>A | CA414804082 | MT-CO3 | c.745T>A (p.Ter249Arg) | |
| MT | m.9951T>C | CA337098640 | MT-CO3 | c.745T>C (p.Ter249Arg) | dbSNP |
| MT | m.9951T>G | CA414804083 | MT-CO3 | c.745T>G (p.Ter249Gly) | |
| MT | m.9951T= | CA414804084 | MT-CO3 | c.745T= (p.Ter249=) | |
| MT | m.9952G>A | CA120601 | MT-CO3 | c.746G>A (p.Ter249=) | ClinVar dbSNP |
| MT | m.9952G>C | CA414804086 | MT-CO3 | c.746G>C (p.Ter249Ser) | |
| MT | m.9952G= | CA414804087 | MT-CO3 | c.746G= (p.Ter249=) | |
| MT | m.9952G>T | CA414804085 | MT-CO3 | c.746G>T (p.Ter249Leu) | |
| MT | m.9953A= | CA414804088 | MT-CO3 | c.747A= (p.Ter249=) | |
| MT | m.9953A>C | CA414804089 | MT-CO3 | c.747A>C (p.Ter249Cys) | |
| MT | m.9953A>G | CA414804090 | MT-CO3 | c.747A>G (p.Ter249Trp) | |
| MT | m.9953A>T | CA414804091 | MT-CO3 | c.747A>T (p.Ter249Cys) | |
| MT | m.9954C>A | CA414804092 | MT-CO3 | c.748C>A (p.Leu250Ile) | |
| MT | m.9954C= | CA2573324638 | MT-CO3 | c.748C= (p.Leu250=) | |
| MT | m.9954C>G | CA414804093 | MT-CO3 | c.748C>G (p.Leu250Val) | |
| MT | m.9954C>T | CA913182381 | MT-CO3 | c.748C>T (p.Leu250=) | |
| MT | m.9955T>A | CA414804094 | MT-CO3 | c.749T>A (p.Leu250Gln) | |
| MT | m.9955T>C | CA414804095 | MT-CO3 | c.749T>C (p.Leu250Pro) | |
| MT | m.9955T>G | CA414804096 | MT-CO3 | c.749T>G (p.Leu250Arg) | |
| MT | m.9955T= | CA2573324641 | MT-CO3 | c.749T= (p.Leu250=) | |
| MT | m.9956_9957del | CA2573105044 | MT-CO3 | c.750_751del (p.Phe251SerfsTer?) | |
| MT | m.9956A= | CA2499566539 | MT-CO3 | c.750A= (p.Leu250=) | |
| MT | m.9956A>C | CA913182391 | MT-CO3 | c.750A>C (p.Leu250=) | |
| MT | m.9956A>G | CA913182387 | MT-CO3 | c.750A>G (p.Leu250=) | dbSNP |
| MT | m.9956A>T | CA913182386 | MT-CO3 | c.750A>T (p.Leu250=) | |
| MT | m.9957T>A | CA414804097 | MT-CO3 | c.751T>A (p.Phe251Ile) | |
| MT | m.9957T>C | CA414804098 | MT-CO3 | c.751T>C (p.Phe251Leu) | ClinVar dbSNP |
| MT | m.9957T>G | CA414804099 | MT-CO3 | c.751T>G (p.Phe251Val) | |
| MT | m.9957T= | CA2499566540 | MT-CO3 | c.751T= (p.Phe251=) | |
| MT | m.9958T>A | CA414804102 | MT-CO3 | c.752T>A (p.Phe251Tyr) | |
| MT | m.9958T>C | CA414804100 | MT-CO3 | c.752T>C (p.Phe251Ser) | |
| MT | m.9958T>G | CA414804101 | MT-CO3 | c.752T>G (p.Phe251Cys) | |
| MT | m.9958T= | CA2573324649 | MT-CO3 | c.752T= (p.Phe251=) | |
| MT | m.9959T>A | CA414804103 | MT-CO3 | c.753T>A (p.Phe251Leu) | |
| MT | m.9959T>C | CA913182394 | MT-CO3 | c.753T>C (p.Phe251=) | dbSNP |
| MT | m.9959T>G | CA414804104 | MT-CO3 | c.753T>G (p.Phe251Leu) | |
| MT | m.9959T= | CA2499566541 | MT-CO3 | c.753T= (p.Phe251=) | |
| MT | m.9960C>A | CA414804105 | MT-CO3 | c.754C>A (p.Leu252Met) | |
| MT | m.9960C= | CA2573324655 | MT-CO3 | c.754C= (p.Leu252=) | |
| MT | m.9960C>G | CA414804106 | MT-CO3 | c.754C>G (p.Leu252Val) | |
| MT | m.9960C>T | CA913182395 | MT-CO3 | c.754C>T (p.Leu252=) | |
| MT | m.9961T>A | CA414804107 | MT-CO3 | c.755T>A (p.Leu252Gln) | |
| MT | m.9961T>C | CA414804108 | MT-CO3 | c.755T>C (p.Leu252Pro) | |
| MT | m.9961T>G | CA414804109 | MT-CO3 | c.755T>G (p.Leu252Arg) | |
| MT | m.9961T= | CA2573324658 | MT-CO3 | c.755T= (p.Leu252=) | |
| MT | m.9962G>A | CA337098646 | MT-CO3 | c.756G>A (p.Leu252=) | dbSNP |
| MT | m.9962G>C | CA913182397 | MT-CO3 | c.756G>C (p.Leu252=) | |
| MT | m.9962G= | CA2499566542 | MT-CO3 | c.756G= (p.Leu252=) | |
| MT | m.9962G>T | CA913182398 | MT-CO3 | c.756G>T (p.Leu252=) | |
| MT | m.9963T>A | CA414804110 | MT-CO3 | c.757T>A (p.Tyr253Asn) | |
| MT | m.9963T>C | CA414804111 | MT-CO3 | c.757T>C (p.Tyr253His) | |
| MT | m.9963T>G | CA414804112 | MT-CO3 | c.757T>G (p.Tyr253Asp) | |
| MT | m.9963T= | CA2573324666 | MT-CO3 | c.757T= (p.Tyr253=) | |
| MT | m.9964A= | CA2573324670 | MT-CO3 | c.758A= (p.Tyr253=) | |
| MT | m.9964A>C | CA414804115 | MT-CO3 | c.758A>C (p.Tyr253Ser) | |
| MT | m.9964A>G | CA414804113 | MT-CO3 | c.758A>G (p.Tyr253Cys) | |
| MT | m.9964A>T | CA414804114 | MT-CO3 | c.758A>T (p.Tyr253Phe) | |
| MT | m.9965T>A | CA414804116 | MT-CO3 | c.759T>A (p.Tyr253Ter) | |
| MT | m.9965T>C | CA913182400 | MT-CO3 | c.759T>C (p.Tyr253=) | dbSNP |
| MT | m.9965T>G | CA414804117 | MT-CO3 | c.759T>G (p.Tyr253Ter) | |
| MT | m.9965T= | CA2573324673 | MT-CO3 | c.759T= (p.Tyr253=) | |
| MT | m.9966G>A | CA16603234 | MT-CO3 | c.760G>A (p.Val254Ile) | ClinVar dbSNP |
| MT | m.9966G>C | CA414804118 | MT-CO3 | c.760G>C (p.Val254Leu) | ClinVar dbSNP |
| MT | m.9966G= | CA2499566543 | MT-CO3 | c.760G= (p.Val254=) | |
| MT | m.9966G>T | CA414804119 | MT-CO3 | c.760G>T (p.Val254Phe) | |
| MT | m.9967T>A | CA414804120 | MT-CO3 | c.761T>A (p.Val254Asp) | |
| MT | m.9967T>C | CA414804121 | MT-CO3 | c.761T>C (p.Val254Ala) | ClinVar dbSNP |
| MT | m.9967T>G | CA414804122 | MT-CO3 | c.761T>G (p.Val254Gly) | |
| MT | m.9967T= | CA2499566544 | MT-CO3 | c.761T= (p.Val254=) | |
| MT | m.9968C>A | CA913182404 | MT-CO3 | c.762C>A (p.Val254=) | dbSNP |
| MT | m.9968C= | CA2499566545 | MT-CO3 | c.762C= (p.Val254=) | |
| MT | m.9968C>G | CA913182406 | MT-CO3 | c.762C>G (p.Val254=) | |
| MT | m.9968C>T | CA913182405 | MT-CO3 | c.762C>T (p.Val254=) | dbSNP |
| MT | m.9969T>A | CA414804123 | MT-CO3 | c.763T>A (p.Ser255Thr) | |
| MT | m.9969T>C | CA414804124 | MT-CO3 | c.763T>C (p.Ser255Pro) | |
| MT | m.9969T>G | CA414804125 | MT-CO3 | c.763T>G (p.Ser255Ala) | |
| MT | m.9969T= | CA2573324689 | MT-CO3 | c.763T= (p.Ser255=) | |
| MT | m.9970C>A | CA414804128 | MT-CO3 | c.764C>A (p.Ser255Tyr) | |
| MT | m.9970C= | CA2573324693 | MT-CO3 | c.764C= (p.Ser255=) | |
| MT | m.9970C>G | CA414804127 | MT-CO3 | c.764C>G (p.Ser255Cys) | |
| MT | m.9970C>T | CA414804126 | MT-CO3 | c.764C>T (p.Ser255Phe) | |
| MT | m.9971C>A | CA337098651 | MT-CO3 | c.765C>A (p.Ser255=) | |
| MT | m.9971C= | CA2499566546 | MT-CO3 | c.765C= (p.Ser255=) | |
| MT | m.9971C>G | CA337098654 | MT-CO3 | c.765C>G (p.Ser255=) | |
| MT | m.9971C>T | CA913182410 | MT-CO3 | c.765C>T (p.Ser255=) | dbSNP |
| MT | m.9972A= | CA2499566547 | MT-CO3 | c.766A= (p.Ile256=) | |
| MT | m.9972A>C | CA414804129 | MT-CO3 | c.766A>C (p.Ile256Leu) | |
| MT | m.9972A>G | CA414804130 | MT-CO3 | c.766A>G (p.Ile256Val) | ClinVar dbSNP |
| MT | m.9972A>T | CA414804131 | MT-CO3 | c.766A>T (p.Ile256Phe) | |
| MT | m.9973T>A | CA414804132 | MT-CO3 | c.767T>A (p.Ile256Asn) | |
| MT | m.9973T>C | CA414804133 | MT-CO3 | c.767T>C (p.Ile256Thr) | dbSNP |
| MT | m.9973T>G | CA414804134 | MT-CO3 | c.767T>G (p.Ile256Ser) | |
| MT | m.9973T= | CA2573324706 | MT-CO3 | c.767T= (p.Ile256=) | |
| MT | m.9974C>A | CA913182413 | MT-CO3 | c.768C>A (p.Ile256=) | |
| MT | m.9974C= | CA2573324710 | MT-CO3 | c.768C= (p.Ile256=) | |
| MT | m.9974C>G | CA414804135 | MT-CO3 | c.768C>G (p.Ile256Met) | |
| MT | m.9974C>T | CA913182412 | MT-CO3 | c.768C>T (p.Ile256=) | |
| MT | m.9975T>A | CA414804136 | MT-CO3 | c.769T>A (p.Tyr257Asn) | |
| MT | m.9975T>C | CA414804137 | MT-CO3 | c.769T>C (p.Tyr257His) | |
| MT | m.9975T>G | CA414804138 | MT-CO3 | c.769T>G (p.Tyr257Asp) | |
| MT | m.9975T= | CA2573324713 | MT-CO3 | c.769T= (p.Tyr257=) | |
| MT | m.9976A= | CA2573324714 | MT-CO3 | c.770A= (p.Tyr257=) | |
| MT | m.9976A>C | CA414804139 | MT-CO3 | c.770A>C (p.Tyr257Ser) | |
| MT | m.9976A>G | CA414804141 | MT-CO3 | c.770A>G (p.Tyr257Cys) | |
| MT | m.9976A>T | CA414804140 | MT-CO3 | c.770A>T (p.Tyr257Phe) | |
| MT | m.9977T>A | CA414804142 | MT-CO3 | c.771T>A (p.Tyr257Ter) | |
| MT | m.9977T>C | CA913182416 | MT-CO3 | c.771T>C (p.Tyr257=) | dbSNP |
| MT | m.9977T>G | CA414804143 | MT-CO3 | c.771T>G (p.Tyr257Ter) | |
| MT | m.9977T= | CA2499566548 | MT-CO3 | c.771T= (p.Tyr257=) | |
| MT | m.9978T>A | CA414804144 | MT-CO3 | c.772T>A (p.Ter258Arg) | |
| MT | m.9978T>C | CA414804145 | MT-CO3 | c.772T>C (p.Ter258Arg) | |
| MT | m.9978T>G | CA414804146 | MT-CO3 | c.772T>G (p.Ter258Gly) | |
| MT | m.9978T= | CA414804147 | MT-CO3 | c.772T= (p.Ter258=) | |
| MT | m.9979G>A | CA414804148 | MT-CO3 | c.773G>A (p.Ter258=) | dbSNP |
| MT | m.9979G>C | CA414804149 | MT-CO3 | c.773G>C (p.Ter258Ser) | |
| MT | m.9979G= | CA414804150 | MT-CO3 | c.773G= (p.Ter258=) | |
| MT | m.9979G>T | CA414804151 | MT-CO3 | c.773G>T (p.Ter258Leu) | |
| MT | m.9980A= | CA414804155 | MT-CO3 | c.774A= (p.Ter258=) | |
| MT | m.9980A>C | CA414804154 | MT-CO3 | c.774A>C (p.Ter258Cys) | |
| MT | m.9980A>G | CA414804153 | MT-CO3 | c.774A>G (p.Ter258Trp) | dbSNP |
| MT | m.9980A>T | CA414804152 | MT-CO3 | c.774A>T (p.Ter258Cys) | |
| MT | m.9981T>A | CA414804156 | MT-CO3 | c.775T>A (p.Ter259Arg) | |
| MT | m.9981T>C | CA414804157 | MT-CO3 | c.775T>C (p.Ter259Arg) | |
| MT | m.9981T>G | CA414804158 | MT-CO3 | c.775T>G (p.Ter259Gly) | ClinVar dbSNP |
| MT | m.9981T= | CA414804159 | MT-CO3 | c.775T= (p.Ter259=) | |
| MT | m.9982G>A | CA414804160 | MT-CO3 | c.776G>A (p.Ter259=) | |
| MT | m.9982G>C | CA414804161 | MT-CO3 | c.776G>C (p.Ter259Ser) | |
| MT | m.9982G= | CA414804162 | MT-CO3 | c.776G= (p.Ter259=) | |
| MT | m.9982G>T | CA414804163 | MT-CO3 | c.776G>T (p.Ter259Leu) | |
| MT | m.9983A= | CA414804164 | MT-CO3 | c.777A= (p.Ter259=) | |
| MT | m.9983A>C | CA414804165 | MT-CO3 | c.777A>C (p.Ter259Cys) | |
| MT | m.9983A>G | CA414804166 | MT-CO3 | c.777A>G (p.Ter259Trp) | dbSNP |
| MT | m.9983A>T | CA414804167 | MT-CO3 | c.777A>T (p.Ter259Cys) | |
| MT | m.9984G>A | CA414804168 | MT-CO3 | c.778G>A (p.Gly260Arg) | ClinVar dbSNP |
| MT | m.9984G>C | CA414804170 | MT-CO3 | c.778G>C (p.Gly260Arg) | |
| MT | m.9984G= | CA2499566549 | MT-CO3 | c.778G= (p.Gly260=) | |
| MT | m.9984G>T | CA414804169 | MT-CO3 | c.778G>T (p.Gly260Trp) | |
| MT | m.9986del | CA2573105045 | MT-CO3 | c.780del (p.Ser261LeufsTer?) | |
| MT | m.9985G>A | CA414804171 | MT-CO3 | c.779G>A (p.Gly260Glu) | dbSNP COSMIC COSMIC |
| MT | m.9985G>C | CA414804172 | MT-CO3 | c.779G>C (p.Gly260Ala) | |
| MT | m.9985G= | CA2573324736 | MT-CO3 | c.779G= (p.Gly260=) | |
| MT | m.9985G>T | CA414804173 | MT-CO3 | c.779G>T (p.Gly260Val) | |
| MT | m.9986G>A | CA337098657 | MT-CO3 | c.780G>A (p.Gly260=) | dbSNP |
| MT | m.9986G>C | CA913182422 | MT-CO3 | c.780G>C (p.Gly260=) | |
| MT | m.9986G= | CA2499566550 | MT-CO3 | c.780G= (p.Gly260=) | |
| MT | m.9986G>T | CA913182421 | MT-CO3 | c.780G>T (p.Gly260=) | |
| MT | m.9987T>A | CA414804174 | MT-CO3 | c.781T>A (p.Ser261Thr) | |
| MT | m.9987T>C | CA414804175 | MT-CO3 | c.781T>C (p.Ser261Pro) | ClinVar dbSNP |
| MT | m.9987T>G | CA414804176 | MT-CO3 | c.781T>G (p.Ser261Ala) | |
| MT | m.9987T= | CA2499566551 | MT-CO3 | c.781T= (p.Ser261=) | |
| MT | m.9988C>A | CA414804177 | MT-CO3 | c.782C>A (p.Ser261Tyr) | |
| MT | m.9988C= | CA2513635619 | MT-CO3 | c.782C= (p.Ser261=) | |
| MT | m.9988C>G | CA414804178 | MT-CO3 | c.782C>G (p.Ser261Cys) | |
| MT | m.9988C>T | CA414804179 | MT-CO3 | c.782C>T (p.Ser261Phe) | |
| MT | m.9989T>A | CA913182428 | MT-CO3 | c.783T>A (p.Ser261=) | |
| MT | m.9989T>C | CA913182427 | MT-CO3 | c.783T>C (p.Ser261=) | dbSNP |
| MT | m.9989T>G | CA913182426 | MT-CO3 | c.783T>G (p.Ser261=) | |
| MT | m.9989T= | CA2499566552 | MT-CO3 | c.783T= (p.Ser261=) | |
| MT | m.9990T>A | CA913182431 | MT-CO3 | c.784T>A | |
| MT | m.9990T>C | CA913182430 | MT-CO3 | c.784T>C | |
| MT | m.9990T>G | CA913182429 | MT-CO3 | c.784T>G | |
| MT | m.9990T= | CA2573324748 | MT-CO3 | c.784T= | |
| MT | m.9991A= | CA2499566553 | |||
| MT | m.9991A>C | CA913182433 | dbSNP | ||
| MT | m.9991A>G | CA913182432 | ClinVar dbSNP | ||
| MT | m.9991A>T | CA913182435 | |||
| MT | m.9992C>A | CA913182438 | |||
| MT | m.9992C= | CA2573324755 | |||
| MT | m.9992C>G | CA913182437 | |||
| MT | m.9992C>T | CA913182436 | |||
| MT | m.9993T>A | CA913182442 | |||
| MT | m.9993T>C | CA913182440 | ClinVar dbSNP | ||
| MT | m.9993T>G | CA913182439 | |||
| MT | m.9993T= | CA2499566554 | |||
| MT | m.9994C>A | CA913182444 | |||
| MT | m.9994C= | CA2499566555 | |||
| MT | m.9994C>G | CA913182443 | dbSNP | ||
| MT | m.9994C>T | CA913182445 | |||
| MT | m.9995T>A | CA913182448 | |||
| MT | m.9995T>C | CA913182447 | ClinVar dbSNP | ||
| MT | m.9995T>G | CA913182446 | |||
| MT | m.9995T= | CA2499566556 | |||
| MT | m.9996T>A | CA913182451 | |||
| MT | m.9996T>C | CA913182450 | ClinVar dbSNP | ||
| MT | m.9996T>G | CA913182449 | |||
| MT | m.9996T= | CA2499566557 | |||
| MT | m.9997T>A | CA913182452 | ClinVar dbSNP | ||
| MT | m.9997T>C | CA254843 | ClinVar dbSNP | ||
| MT | m.9997T>G | CA913182453 | |||
| MT | m.9997T= | CA2499566558 | |||
| MT | m.9998T>A | CA913182459 | |||
| MT | m.9998T>C | CA913182458 | |||
| MT | m.9998T>G | CA913182457 | |||
| MT | m.9998T= | CA2573324773 | |||
| MT | m.9999A= | CA2573324775 | |||
| MT | m.9999A>C | CA913182461 | |||
| MT | m.9999A>G | CA913182460 | |||
| MT | m.9999A>T | CA913182462 | |||
| MT | m.10000G>A | CA913161435 | |||
| MT | m.10000G>C | CA913161439 | |||
| MT | m.10000G= | CA2573324778 | |||
| MT | m.10000G>T | CA913161441 | |||
| MT | m.10001T>A | CA913161450 | |||
| MT | m.10001T>C | CA913161452 | |||
| MT | m.10001T>G | CA913161454 | |||
| MT | m.10001T= | CA2573324780 | |||
| MT | m.10002A= | CA2573324782 | |||
| MT | m.10002A>C | CA913161460 | |||
| MT | m.10002A>G | CA913161462 | |||
| MT | m.10002A>T | CA913161463 | |||
| MT | m.10003T>A | CA913161467 | |||
| MT | m.10003T>C | CA658498460 | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC | ||
| MT | m.10003T>G | CA913161471 | |||
| MT | m.10003T= | CA2499566559 | |||
| MT | m.10004A= | CA2573324790 | |||
| MT | m.10004A>C | CA913161489 | |||
| MT | m.10004A>G | CA913161475 | |||
| MT | m.10004A>T | CA913161488 | |||
| MT | m.10006dup | CA2573105046 | |||
| MT | m.10006del | CA2573105047 | |||
| MT | m.10005A= | CA2499566560 | |||
| MT | m.10005A>C | CA913161490 | |||
| MT | m.10005A>G | CA913161491 | ClinVar dbSNP | ||
| MT | m.10005A>T | CA913161492 | ClinVar dbSNP | ||
| MT | m.10006A= | CA2499566561 | |||
| MT | m.10006A>C | CA913161494 | |||
| MT | m.10006A>G | CA913161497 | ClinVar dbSNP | ||
| MT | m.10006A>T | CA913161498 | |||
| MT | m.10007T>A | CA913161502 | |||
| MT | m.10007T>C | CA337098660 | ClinVar dbSNP | ||
| MT | m.10007T>G | CA913161503 | |||
| MT | m.10007T= | CA2499566562 | |||
| MT | m.10008A= | CA2499566563 | |||
| MT | m.10008A>C | CA913161505 | |||
| MT | m.10008A>G | CA913161507 | ClinVar dbSNP | ||
| MT | m.10008A>T | CA913161508 |