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.10106_15067del | CA645373340 | ClinVar | ||
| MT | m.10775_14941del | CA2740090229 | ClinVar | ||
| MT | m.10950_15540del | CA2580102079 | ClinVar | ||
| MT | m.11105A= | CA2573327303 | MT-ND4 | c.346A= (p.Ile116=) | |
| MT | m.11105A>C | CA414809467 | MT-ND4 | c.346A>C (p.Ile116Leu) | |
| MT | m.11105A>G | CA414809468 | MT-ND4 | c.346A>G (p.Ile116Val) | |
| MT | m.11105A>T | CA414809469 | MT-ND4 | c.346A>T (p.Ile116Phe) | |
| MT | m.11106T>A | CA414809470 | MT-ND4 | c.347T>A (p.Ile116Asn) | |
| MT | m.11106T>C | CA414809471 | MT-ND4 | c.347T>C (p.Ile116Thr) | COSMIC |
| MT | m.11106T>G | CA414809472 | MT-ND4 | c.347T>G (p.Ile116Ser) | |
| MT | m.11106T= | CA2513657043 | MT-ND4 | c.347T= (p.Ile116=) | |
| MT | m.11107C>A | CA913165882 | MT-ND4 | c.348C>A (p.Ile116=) | |
| MT | m.11107C= | CA2499567148 | MT-ND4 | c.348C= (p.Ile116=) | |
| MT | m.11107C>G | CA414809473 | MT-ND4 | c.348C>G (p.Ile116Met) | |
| MT | m.11107C>T | CA913165881 | MT-ND4 | c.348C>T (p.Ile116=) | dbSNP |
| MT | m.11108A= | CA2573327308 | MT-ND4 | c.349A= (p.Ile117=) | |
| MT | m.11108A>C | CA414809476 | MT-ND4 | c.349A>C (p.Ile117Leu) | |
| MT | m.11108A>G | CA414809474 | MT-ND4 | c.349A>G (p.Ile117Val) | |
| MT | m.11108A>T | CA414809475 | MT-ND4 | c.349A>T (p.Ile117Leu) | |
| MT | m.11109T>A | CA414809477 | MT-ND4 | c.350T>A (p.Ile117Lys) | |
| MT | m.11109T>C | CA414809478 | MT-ND4 | c.350T>C (p.Ile117Thr) | |
| MT | m.11109T>G | CA414809479 | MT-ND4 | c.350T>G (p.Ile117Arg) | |
| MT | m.11109T= | CA2573327311 | MT-ND4 | c.350T= (p.Ile117=) | |
| MT | m.11110A= | CA2573327314 | MT-ND4 | c.351A= (p.Ile117=) | |
| MT | m.11110A>C | CA913165886 | MT-ND4 | c.351A>C (p.Ile117=) | |
| MT | m.11110A>G | CA414809480 | MT-ND4 | c.351A>G (p.Ile117Met) | |
| MT | m.11110A>T | CA913165885 | MT-ND4 | c.351A>T (p.Ile117=) | |
| MT | m.11111T>A | CA414809481 | MT-ND4 | c.352T>A (p.Phe118Ile) | |
| MT | m.11111T>C | CA414809482 | MT-ND4 | c.352T>C (p.Phe118Leu) | ClinVar dbSNP |
| MT | m.11111T>G | CA414809483 | MT-ND4 | c.352T>G (p.Phe118Val) | |
| MT | m.11111T= | CA2499567149 | MT-ND4 | c.352T= (p.Phe118=) | |
| MT | m.11112T>A | CA414809484 | MT-ND4 | c.353T>A (p.Phe118Tyr) | |
| MT | m.11112T>C | CA414809485 | MT-ND4 | c.353T>C (p.Phe118Ser) | |
| MT | m.11112T>G | CA414809486 | MT-ND4 | c.353T>G (p.Phe118Cys) | |
| MT | m.11112T= | CA2573327318 | MT-ND4 | c.353T= (p.Phe118=) | |
| MT | m.11113T>A | CA414809487 | MT-ND4 | c.354T>A (p.Phe118Leu) | |
| MT | m.11113T>C | CA913165895 | MT-ND4 | c.354T>C (p.Phe118=) | dbSNP |
| MT | m.11113T>G | CA414809488 | MT-ND4 | c.354T>G (p.Phe118Leu) | |
| MT | m.11113T= | CA2499567150 | MT-ND4 | c.354T= (p.Phe118=) | |
| MT | m.11114T>A | CA414809491 | MT-ND4 | c.355T>A (p.Tyr119Asn) | |
| MT | m.11114T>C | CA414809490 | MT-ND4 | c.355T>C (p.Tyr119His) | |
| MT | m.11114T>G | CA414809489 | MT-ND4 | c.355T>G (p.Tyr119Asp) | |
| MT | m.11114T= | CA2573327321 | MT-ND4 | c.355T= (p.Tyr119=) | |
| MT | m.11115A= | CA2573327323 | MT-ND4 | c.356A= (p.Tyr119=) | |
| MT | m.11115A>C | CA414809492 | MT-ND4 | c.356A>C (p.Tyr119Ser) | |
| MT | m.11115A>G | CA414809493 | MT-ND4 | c.356A>G (p.Tyr119Cys) | |
| MT | m.11115A>T | CA414809494 | MT-ND4 | c.356A>T (p.Tyr119Phe) | |
| MT | m.11116T>A | CA414809495 | MT-ND4 | c.357T>A (p.Tyr119Ter) | |
| MT | m.11116T>C | CA913165910 | MT-ND4 | c.357T>C (p.Tyr119=) | dbSNP |
| MT | m.11116T>G | CA414809496 | MT-ND4 | c.357T>G (p.Tyr119Ter) | |
| MT | m.11116T= | CA2499567151 | MT-ND4 | c.357T= (p.Tyr119=) | |
| MT | m.11117A= | CA2573327329 | MT-ND4 | c.358A= (p.Ile120=) | |
| MT | m.11117A>C | CA414809497 | MT-ND4 | c.358A>C (p.Ile120Leu) | |
| MT | m.11117A>G | CA414809498 | MT-ND4 | c.358A>G (p.Ile120Val) | |
| MT | m.11117A>T | CA414809499 | MT-ND4 | c.358A>T (p.Ile120Phe) | |
| MT | m.11118T>A | CA414809500 | MT-ND4 | c.359T>A (p.Ile120Asn) | |
| MT | m.11118T>C | CA414809501 | MT-ND4 | c.359T>C (p.Ile120Thr) | |
| MT | m.11118T>G | CA414809502 | MT-ND4 | c.359T>G (p.Ile120Ser) | |
| MT | m.11118T= | CA2573327332 | MT-ND4 | c.359T= (p.Ile120=) | |
| MT | m.11119C>A | CA913165921 | MT-ND4 | c.360C>A (p.Ile120=) | |
| MT | m.11119C= | CA2499567152 | MT-ND4 | c.360C= (p.Ile120=) | |
| MT | m.11119C>G | CA414809503 | MT-ND4 | c.360C>G (p.Ile120Met) | |
| MT | m.11119C>T | CA913165922 | MT-ND4 | c.360C>T (p.Ile120=) | dbSNP |
| MT | m.11120T>A | CA414809504 | MT-ND4 | c.361T>A (p.Phe121Ile) | |
| MT | m.11120T>C | CA414809506 | MT-ND4 | c.361T>C (p.Phe121Leu) | ClinVar dbSNP |
| MT | m.11120T>G | CA414809505 | MT-ND4 | c.361T>G (p.Phe121Val) | |
| MT | m.11120T= | CA2499567153 | MT-ND4 | c.361T= (p.Phe121=) | |
| MT | m.11121T>A | CA414809507 | MT-ND4 | c.362T>A (p.Phe121Tyr) | |
| MT | m.11121T>C | CA414809509 | MT-ND4 | c.362T>C (p.Phe121Ser) | |
| MT | m.11121T>G | CA414809508 | MT-ND4 | c.362T>G (p.Phe121Cys) | |
| MT | m.11121T= | CA2573327337 | MT-ND4 | c.362T= (p.Phe121=) | |
| MT | m.11122C>A | CA414809510 | MT-ND4 | c.363C>A (p.Phe121Leu) | |
| MT | m.11122C= | CA2573327339 | MT-ND4 | c.363C= (p.Phe121=) | |
| MT | m.11122C>G | CA414809511 | MT-ND4 | c.363C>G (p.Phe121Leu) | |
| MT | m.11122C>T | CA913165937 | MT-ND4 | c.363C>T (p.Phe121=) | |
| MT | m.11123T>A | CA414809512 | MT-ND4 | c.364T>A (p.Phe122Ile) | |
| MT | m.11123T>C | CA414809513 | MT-ND4 | c.364T>C (p.Phe122Leu) | dbSNP |
| MT | m.11123T>G | CA414809514 | MT-ND4 | c.364T>G (p.Phe122Val) | |
| MT | m.11123T= | CA2499567154 | MT-ND4 | c.364T= (p.Phe122=) | |
| MT | m.11124T>A | CA414809515 | MT-ND4 | c.365T>A (p.Phe122Tyr) | |
| MT | m.11124T>C | CA414809516 | MT-ND4 | c.365T>C (p.Phe122Ser) | |
| MT | m.11124T>G | CA414809517 | MT-ND4 | c.365T>G (p.Phe122Cys) | |
| MT | m.11124T= | CA2573327345 | MT-ND4 | c.365T= (p.Phe122=) | |
| MT | m.11125C>A | CA414809518 | MT-ND4 | c.366C>A (p.Phe122Leu) | |
| MT | m.11125C= | CA2573327347 | MT-ND4 | c.366C= (p.Phe122=) | |
| MT | m.11125C>G | CA414809519 | MT-ND4 | c.366C>G (p.Phe122Leu) | |
| MT | m.11125C>T | CA913165954 | MT-ND4 | c.366C>T (p.Phe122=) | |
| MT | m.11126G>A | CA414809522 | MT-ND4 | c.367G>A (p.Glu123Lys) | dbSNP COSMIC |
| MT | m.11126G>C | CA414809521 | MT-ND4 | c.367G>C (p.Glu123Gln) | |
| MT | m.11126G= | CA2499567155 | MT-ND4 | c.367G= (p.Glu123=) | |
| MT | m.11126G>T | CA414809520 | MT-ND4 | c.367G>T (p.Glu123Ter) | |
| MT | m.11127A= | CA2573327348 | MT-ND4 | c.368A= (p.Glu123=) | |
| MT | m.11127A>C | CA414809523 | MT-ND4 | c.368A>C (p.Glu123Ala) | |
| MT | m.11127A>G | CA414809524 | MT-ND4 | c.368A>G (p.Glu123Gly) | |
| MT | m.11127A>T | CA414809525 | MT-ND4 | c.368A>T (p.Glu123Val) | |
| MT | m.11128A= | CA2499567156 | MT-ND4 | c.369A= (p.Glu123=) | |
| MT | m.11128A>C | CA414809526 | MT-ND4 | c.369A>C (p.Glu123Asp) | |
| MT | m.11128A>G | CA913165962 | MT-ND4 | c.369A>G (p.Glu123=) | dbSNP |
| MT | m.11128A>T | CA414809527 | MT-ND4 | c.369A>T (p.Glu123Asp) | |
| MT | m.11129A= | CA2499567157 | MT-ND4 | c.370A= (p.Thr124=) | |
| MT | m.11129A>C | CA414809528 | MT-ND4 | c.370A>C (p.Thr124Pro) | |
| MT | m.11129A>G | CA414809529 | MT-ND4 | c.370A>G (p.Thr124Ala) | ClinVar dbSNP |
| MT | m.11129A>T | CA414809530 | MT-ND4 | c.370A>T (p.Thr124Ser) | |
| MT | m.11131_11133del | CA2740098323 | MT-ND4 | c.372_374del (p.Thr125del) | |
| MT | m.11130C>A | CA414809531 | MT-ND4 | c.371C>A (p.Thr124Asn) | |
| MT | m.11130C= | CA2573327352 | MT-ND4 | c.371C= (p.Thr124=) | |
| MT | m.11130C>G | CA414809532 | MT-ND4 | c.371C>G (p.Thr124Ser) | |
| MT | m.11130C>T | CA414809533 | MT-ND4 | c.371C>T (p.Thr124Ile) | |
| MT | m.11131C>A | CA913165976 | MT-ND4 | c.372C>A (p.Thr124=) | |
| MT | m.11131C= | CA2499567158 | MT-ND4 | c.372C= (p.Thr124=) | |
| MT | m.11131C>G | CA913165974 | MT-ND4 | c.372C>G (p.Thr124=) | |
| MT | m.11131C>T | CA913165975 | MT-ND4 | c.372C>T (p.Thr124=) | dbSNP |
| MT | m.11132A= | CA2573327354 | MT-ND4 | c.373A= (p.Thr125=) | |
| MT | m.11132A>C | CA414809536 | MT-ND4 | c.373A>C (p.Thr125Pro) | |
| MT | m.11132A>G | CA414809535 | MT-ND4 | c.373A>G (p.Thr125Ala) | |
| MT | m.11132A>T | CA414809534 | MT-ND4 | c.373A>T (p.Thr125Ser) | |
| MT | m.11133C>A | CA414809537 | MT-ND4 | c.374C>A (p.Thr125Lys) | |
| MT | m.11133C= | CA2573327357 | MT-ND4 | c.374C= (p.Thr125=) | |
| MT | m.11133C>G | CA414809538 | MT-ND4 | c.374C>G (p.Thr125Arg) | |
| MT | m.11133C>T | CA414809539 | MT-ND4 | c.374C>T (p.Thr125Ile) | |
| MT | m.11134A= | CA2573327359 | MT-ND4 | c.375A= (p.Thr125=) | |
| MT | m.11134A>C | CA913165989 | MT-ND4 | c.375A>C (p.Thr125=) | |
| MT | m.11134A>G | CA913165986 | MT-ND4 | c.375A>G (p.Thr125=) | |
| MT | m.11134A>T | CA913165985 | MT-ND4 | c.375A>T (p.Thr125=) | |
| MT | m.11135C>A | CA414809540 | MT-ND4 | c.376C>A (p.Leu126Ile) | |
| MT | m.11135C= | CA2573327361 | MT-ND4 | c.376C= (p.Leu126=) | |
| MT | m.11135C>G | CA414809541 | MT-ND4 | c.376C>G (p.Leu126Val) | |
| MT | m.11135C>T | CA414809542 | MT-ND4 | c.376C>T (p.Leu126Phe) | |
| MT | m.11136T>A | CA414809543 | MT-ND4 | c.377T>A (p.Leu126His) | |
| MT | m.11136T>C | CA414809544 | MT-ND4 | c.377T>C (p.Leu126Pro) | |
| MT | m.11136T>G | CA414809545 | MT-ND4 | c.377T>G (p.Leu126Arg) | |
| MT | m.11136T= | CA2573327364 | MT-ND4 | c.377T= (p.Leu126=) | |
| MT | m.11137T>A | CA913165998 | MT-ND4 | c.378T>A (p.Leu126=) | |
| MT | m.11137T>C | CA913165997 | MT-ND4 | c.378T>C (p.Leu126=) | dbSNP |
| MT | m.11137T>G | CA913165999 | MT-ND4 | c.378T>G (p.Leu126=) | |
| MT | m.11137T= | CA2499567159 | MT-ND4 | c.378T= (p.Leu126=) | |
| MT | m.11138A= | CA2573327366 | MT-ND4 | c.379A= (p.Ile127=) | |
| MT | m.11138A>C | CA414809546 | MT-ND4 | c.379A>C (p.Ile127Leu) | |
| MT | m.11138A>G | CA414809547 | MT-ND4 | c.379A>G (p.Ile127Val) | |
| MT | m.11138A>T | CA414809548 | MT-ND4 | c.379A>T (p.Ile127Phe) | |
| MT | m.11139T>A | CA414809551 | MT-ND4 | c.380T>A (p.Ile127Asn) | |
| MT | m.11139T>C | CA414809549 | MT-ND4 | c.380T>C (p.Ile127Thr) | ClinVar dbSNP COSMIC |
| MT | m.11139T>G | CA414809550 | MT-ND4 | c.380T>G (p.Ile127Ser) | |
| MT | m.11139T= | CA2499567160 | MT-ND4 | c.380T= (p.Ile127=) | |
| MT | m.11140C>A | CA913166013 | MT-ND4 | c.381C>A (p.Ile127=) | |
| MT | m.11140C= | CA2499567161 | MT-ND4 | c.381C= (p.Ile127=) | |
| MT | m.11140C>G | CA414809552 | MT-ND4 | c.381C>G (p.Ile127Met) | |
| MT | m.11140C>T | CA913166006 | MT-ND4 | c.381C>T (p.Ile127=) | dbSNP |
| MT | m.11141C>A | CA414809553 | MT-ND4 | c.382C>A (p.Pro128Thr) | |
| MT | m.11141C= | CA2573327369 | MT-ND4 | c.382C= (p.Pro128=) | |
| MT | m.11141C>G | CA414809554 | MT-ND4 | c.382C>G (p.Pro128Ala) | |
| MT | m.11141C>T | CA414809555 | MT-ND4 | c.382C>T (p.Pro128Ser) | |
| MT | m.11142C>A | CA414809556 | MT-ND4 | c.383C>A (p.Pro128His) | |
| MT | m.11142C= | CA2573327371 | MT-ND4 | c.383C= (p.Pro128=) | |
| MT | m.11142C>G | CA414809557 | MT-ND4 | c.383C>G (p.Pro128Arg) | |
| MT | m.11142C>T | CA414809558 | MT-ND4 | c.383C>T (p.Pro128Leu) | |
| MT | m.11143C>A | CA913166021 | MT-ND4 | c.384C>A (p.Pro128=) | |
| MT | m.11143C= | CA2499567162 | MT-ND4 | c.384C= (p.Pro128=) | |
| MT | m.11143C>G | CA913166023 | MT-ND4 | c.384C>G (p.Pro128=) | |
| MT | m.11143C>T | CA913166024 | MT-ND4 | c.384C>T (p.Pro128=) | dbSNP |
| MT | m.11144A= | CA2499567163 | MT-ND4 | c.385A= (p.Thr129=) | |
| MT | m.11144A>C | CA414809559 | MT-ND4 | c.385A>C (p.Thr129Pro) | |
| MT | m.11144A>G | CA414809560 | MT-ND4 | c.385A>G (p.Thr129Ala) | |
| MT | m.11144A>T | CA414809561 | MT-ND4 | c.385A>T (p.Thr129Ser) | ClinVar dbSNP |
| MT | m.11145C>A | CA414809564 | MT-ND4 | c.386C>A (p.Thr129Asn) | |
| MT | m.11145C= | CA2573327374 | MT-ND4 | c.386C= (p.Thr129=) | |
| MT | m.11145C>G | CA414809563 | MT-ND4 | c.386C>G (p.Thr129Ser) | |
| MT | m.11145C>T | CA414809562 | MT-ND4 | c.386C>T (p.Thr129Ile) | |
| MT | m.11146C>A | CA913166034 | MT-ND4 | c.387C>A (p.Thr129=) | |
| MT | m.11146C= | CA2499567164 | MT-ND4 | c.387C= (p.Thr129=) | |
| MT | m.11146C>G | CA913166037 | MT-ND4 | c.387C>G (p.Thr129=) | |
| MT | m.11146C>T | CA337099094 | MT-ND4 | c.387C>T (p.Thr129=) | dbSNP |
| MT | m.11147T>A | CA414809566 | MT-ND4 | c.388T>A (p.Leu130Met) | |
| MT | m.11147T>C | CA913166045 | MT-ND4 | c.388T>C (p.Leu130=) | dbSNP |
| MT | m.11147T>G | CA414809565 | MT-ND4 | c.388T>G (p.Leu130Val) | |
| MT | m.11147T= | CA2499567165 | MT-ND4 | c.388T= (p.Leu130=) | |
| MT | m.11148T>A | CA414809567 | MT-ND4 | c.389T>A (p.Leu130Ter) | |
| MT | m.11148T>C | CA414809568 | MT-ND4 | c.389T>C (p.Leu130Ser) | |
| MT | m.11148T>G | CA414809569 | MT-ND4 | c.389T>G (p.Leu130Trp) | |
| MT | m.11148T= | CA2573327379 | MT-ND4 | c.389T= (p.Leu130=) | |
| MT | m.11149G>A | CA913166054 | MT-ND4 | c.390G>A (p.Leu130=) | dbSNP |
| MT | m.11149G>C | CA414809570 | MT-ND4 | c.390G>C (p.Leu130Phe) | |
| MT | m.11149G= | CA2499567166 | MT-ND4 | c.390G= (p.Leu130=) | |
| MT | m.11149G>T | CA414809571 | MT-ND4 | c.390G>T (p.Leu130Phe) | |
| MT | m.11150G>A | CA337099096 | MT-ND4 | c.391G>A (p.Ala131Thr) | ClinVar dbSNP |
| MT | m.11150G>C | CA337099098 | MT-ND4 | c.391G>C (p.Ala131Pro) | |
| MT | m.11150G= | CA2499567167 | MT-ND4 | c.391G= (p.Ala131=) | |
| MT | m.11150G>T | CA337099100 | MT-ND4 | c.391G>T (p.Ala131Ser) | |
| MT | m.11151C>A | CA414809572 | MT-ND4 | c.392C>A (p.Ala131Asp) | |
| MT | m.11151C= | CA2499567168 | MT-ND4 | c.392C= (p.Ala131=) | |
| MT | m.11151C>G | CA414809573 | MT-ND4 | c.392C>G (p.Ala131Gly) | |
| MT | m.11151C>T | CA414809574 | MT-ND4 | c.392C>T (p.Ala131Val) | ClinVar dbSNP |
| MT | m.11152T>A | CA913166068 | MT-ND4 | c.393T>A (p.Ala131=) | |
| MT | m.11152T>C | CA337099102 | MT-ND4 | c.393T>C (p.Ala131=) | dbSNP |
| MT | m.11152T>G | CA913166069 | MT-ND4 | c.393T>G (p.Ala131=) | dbSNP |
| MT | m.11152T= | CA2499567169 | MT-ND4 | c.393T= (p.Ala131=) | |
| MT | m.11153A= | CA2573327385 | MT-ND4 | c.394A= (p.Ile132=) | |
| MT | m.11153A>C | CA414809577 | MT-ND4 | c.394A>C (p.Ile132Leu) | |
| MT | m.11153A>G | CA414809575 | MT-ND4 | c.394A>G (p.Ile132Val) | |
| MT | m.11153A>T | CA414809576 | MT-ND4 | c.394A>T (p.Ile132Phe) | |
| MT | m.11154T>A | CA414809578 | MT-ND4 | c.395T>A (p.Ile132Asn) | |
| MT | m.11154T>C | CA414809579 | MT-ND4 | c.395T>C (p.Ile132Thr) | dbSNP |
| MT | m.11154T>G | CA414809580 | MT-ND4 | c.395T>G (p.Ile132Ser) | |
| MT | m.11154T= | CA2499567170 | MT-ND4 | c.395T= (p.Ile132=) | |
| MT | m.11155C>A | CA913166071 | MT-ND4 | c.396C>A (p.Ile132=) | |
| MT | m.11155C= | CA2499567171 | MT-ND4 | c.396C= (p.Ile132=) | |
| MT | m.11155C>G | CA414809581 | MT-ND4 | c.396C>G (p.Ile132Met) | |
| MT | m.11155C>T | CA337099104 | MT-ND4 | c.396C>T (p.Ile132=) | dbSNP |
| MT | m.11156A= | CA2573327389 | MT-ND4 | c.397A= (p.Ile133=) | |
| MT | m.11156A>C | CA414809582 | MT-ND4 | c.397A>C (p.Ile133Leu) | |
| MT | m.11156A>G | CA414809583 | MT-ND4 | c.397A>G (p.Ile133Val) | |
| MT | m.11156A>T | CA414809584 | MT-ND4 | c.397A>T (p.Ile133Phe) | |
| MT | m.11157T>A | CA414809585 | MT-ND4 | c.398T>A (p.Ile133Asn) | |
| MT | m.11157T>C | CA414809586 | MT-ND4 | c.398T>C (p.Ile133Thr) | ClinVar dbSNP |
| MT | m.11157T>G | CA414809587 | MT-ND4 | c.398T>G (p.Ile133Ser) | |
| MT | m.11157T= | CA2499567172 | MT-ND4 | c.398T= (p.Ile133=) | |
| MT | m.11158C>A | CA913166081 | MT-ND4 | c.399C>A (p.Ile133=) | |
| MT | m.11158C= | CA2499567173 | MT-ND4 | c.399C= (p.Ile133=) | |
| MT | m.11158C>G | CA414809588 | MT-ND4 | c.399C>G (p.Ile133Met) | |
| MT | m.11158C>T | CA913166078 | MT-ND4 | c.399C>T (p.Ile133=) | dbSNP |
| MT | m.11159A= | CA2573327393 | MT-ND4 | c.400A= (p.Thr134=) | |
| MT | m.11159A>C | CA414809591 | MT-ND4 | c.400A>C (p.Thr134Pro) | |
| MT | m.11159A>G | CA414809589 | MT-ND4 | c.400A>G (p.Thr134Ala) | |
| MT | m.11159A>T | CA414809590 | MT-ND4 | c.400A>T (p.Thr134Ser) | |
| MT | m.11160C>A | CA414809592 | MT-ND4 | c.401C>A (p.Thr134Asn) | |
| MT | m.11160C= | CA2573327395 | MT-ND4 | c.401C= (p.Thr134=) | |
| MT | m.11160C>G | CA414809593 | MT-ND4 | c.401C>G (p.Thr134Ser) | |
| MT | m.11160C>T | CA414809594 | MT-ND4 | c.401C>T (p.Thr134Ile) | |
| MT | m.11161C>A | CA913166088 | MT-ND4 | c.402C>A (p.Thr134=) | |
| MT | m.11161C= | CA2573327397 | MT-ND4 | c.402C= (p.Thr134=) | |
| MT | m.11161C>G | CA913166091 | MT-ND4 | c.402C>G (p.Thr134=) | |
| MT | m.11161C>T | CA913166093 | MT-ND4 | c.402C>T (p.Thr134=) | |
| MT | m.11162C>A | CA913166095 | MT-ND4 | c.403C>A (p.Arg135=) | |
| MT | m.11162C= | CA2573327399 | MT-ND4 | c.403C= (p.Arg135=) | |
| MT | m.11162C>G | CA414809595 | MT-ND4 | c.403C>G (p.Arg135Gly) | |
| MT | m.11162C>T | CA414809596 | MT-ND4 | c.403C>T (p.Arg135Ter) | |
| MT | m.11163G>A | CA414809597 | MT-ND4 | c.404G>A (p.Arg135Gln) | |
| MT | m.11163G>C | CA414809598 | MT-ND4 | c.404G>C (p.Arg135Pro) | |
| MT | m.11163G= | CA2513021662 | MT-ND4 | c.404G= (p.Arg135=) | |
| MT | m.11163G>T | CA414809599 | MT-ND4 | c.404G>T (p.Arg135Leu) | |
| MT | m.11164A= | CA2499567174 | MT-ND4 | c.405A= (p.Arg135=) | |
| MT | m.11164A>C | CA913166099 | MT-ND4 | c.405A>C (p.Arg135=) | |
| MT | m.11164A>G | CA913166101 | MT-ND4 | c.405A>G (p.Arg135=) | dbSNP |
| MT | m.11164A>T | CA913166100 | MT-ND4 | c.405A>T (p.Arg135=) | |
| MT | m.11165T>A | CA414809600 | MT-ND4 | c.406T>A (p.Ter136Arg) | |
| MT | m.11165T>C | CA414809601 | MT-ND4 | c.406T>C (p.Ter136Arg) | |
| MT | m.11165T>G | CA414809602 | MT-ND4 | c.406T>G (p.Ter136Gly) | |
| MT | m.11165T= | CA414809603 | MT-ND4 | c.406T= (p.Ter136=) | |
| MT | m.11166G>A | CA414809607 | MT-ND4 | c.407G>A (p.Ter136=) | |
| MT | m.11166G>C | CA414809604 | MT-ND4 | c.407G>C (p.Ter136Ser) | |
| MT | m.11166G= | CA414809606 | MT-ND4 | c.407G= (p.Ter136=) | |
| MT | m.11166G>T | CA414809605 | MT-ND4 | c.407G>T (p.Ter136Leu) | |
| MT | m.11167A= | CA414809608 | MT-ND4 | c.408A= (p.Ter136=) | |
| MT | m.11167A>C | CA414809609 | MT-ND4 | c.408A>C (p.Ter136Cys) | |
| MT | m.11167A>G | CA10581397 | MT-ND4 | c.408A>G (p.Ter136Trp) | ClinVar dbSNP |
| MT | m.11167A>T | CA414809610 | MT-ND4 | c.408A>T (p.Ter136Cys) | |
| MT | m.11168G>A | CA414809611 | MT-ND4 | c.409G>A (p.Gly137Ser) | |
| MT | m.11168G>C | CA414809612 | MT-ND4 | c.409G>C (p.Gly137Arg) | |
| MT | m.11168G= | CA2573327404 | MT-ND4 | c.409G= (p.Gly137=) | |
| MT | m.11168G>T | CA414809613 | MT-ND4 | c.409G>T (p.Gly137Cys) | |
| MT | m.11169G>A | CA414809614 | MT-ND4 | c.410G>A (p.Gly137Asp) | |
| MT | m.11169G>C | CA414809615 | MT-ND4 | c.410G>C (p.Gly137Ala) | |
| MT | m.11169G= | CA2573327405 | MT-ND4 | c.410G= (p.Gly137=) | |
| MT | m.11169G>T | CA414809616 | MT-ND4 | c.410G>T (p.Gly137Val) | |
| MT | m.11170C>A | CA913166121 | MT-ND4 | c.411C>A (p.Gly137=) | |
| MT | m.11170C= | CA2499567175 | MT-ND4 | c.411C= (p.Gly137=) | |
| MT | m.11170C>G | CA913166119 | MT-ND4 | c.411C>G (p.Gly137=) | dbSNP |
| MT | m.11170C>T | CA913166118 | MT-ND4 | c.411C>T (p.Gly137=) | dbSNP |
| MT | m.11171A= | CA2573327407 | MT-ND4 | c.412A= (p.Asn138=) | |
| MT | m.11171A>C | CA414809617 | MT-ND4 | c.412A>C (p.Asn138His) | |
| MT | m.11171A>G | CA414809619 | MT-ND4 | c.412A>G (p.Asn138Asp) | |
| MT | m.11171A>T | CA414809618 | MT-ND4 | c.412A>T (p.Asn138Tyr) | |
| MT | m.11172A= | CA2499567176 | MT-ND4 | c.413A= (p.Asn138=) | |
| MT | m.11172A>C | CA414809620 | MT-ND4 | c.413A>C (p.Asn138Thr) | |
| MT | m.11172A>G | CA337099107 | MT-ND4 | c.413A>G (p.Asn138Ser) | ClinVar dbSNP |
| MT | m.11172A>T | CA414809621 | MT-ND4 | c.413A>T (p.Asn138Ile) | |
| MT | m.11173C>A | CA414809622 | MT-ND4 | c.414C>A (p.Asn138Lys) | |
| MT | m.11173C= | CA2499567177 | MT-ND4 | c.414C= (p.Asn138=) | |
| MT | m.11173C>G | CA414809623 | MT-ND4 | c.414C>G (p.Asn138Lys) | |
| MT | m.11173C>T | CA913166134 | MT-ND4 | c.414C>T (p.Asn138=) | dbSNP |
| MT | m.11174C>A | CA414809624 | MT-ND4 | c.415C>A (p.Gln139Lys) | |
| MT | m.11174C= | CA2573327411 | MT-ND4 | c.415C= (p.Gln139=) | |
| MT | m.11174C>G | CA414809625 | MT-ND4 | c.415C>G (p.Gln139Glu) | |
| MT | m.11174C>T | CA414809626 | MT-ND4 | c.415C>T (p.Gln139Ter) | |
| MT | m.11175A= | CA2512934847 | MT-ND4 | c.416A= (p.Gln139=) | |
| MT | m.11175A>C | CA414809627 | MT-ND4 | c.416A>C (p.Gln139Pro) | |
| MT | m.11175A>G | CA414809628 | MT-ND4 | c.416A>G (p.Gln139Arg) | |
| MT | m.11175A>T | CA414809629 | MT-ND4 | c.416A>T (p.Gln139Leu) | |
| MT | m.11176G>A | CA337099109 | MT-ND4 | c.417G>A (p.Gln139=) | dbSNP |
| MT | m.11176G>C | CA414809630 | MT-ND4 | c.417G>C (p.Gln139His) | |
| MT | m.11176G= | CA2499567178 | MT-ND4 | c.417G= (p.Gln139=) | |
| MT | m.11176G>T | CA414809631 | MT-ND4 | c.417G>T (p.Gln139His) | |
| MT | m.11177C>A | CA414809632 | MT-ND4 | c.418C>A (p.Pro140Thr) | |
| MT | m.11177C= | CA2499567179 | MT-ND4 | c.418C= (p.Pro140=) | |
| MT | m.11177C>G | CA414809633 | MT-ND4 | c.418C>G (p.Pro140Ala) | |
| MT | m.11177C>T | CA337099111 | MT-ND4 | c.418C>T (p.Pro140Ser) | ClinVar dbSNP |
| MT | m.11178C>A | CA414809634 | MT-ND4 | c.419C>A (p.Pro140Gln) | |
| MT | m.11178C= | CA2573327413 | MT-ND4 | c.419C= (p.Pro140=) | |
| MT | m.11178C>G | CA414809635 | MT-ND4 | c.419C>G (p.Pro140Arg) | |
| MT | m.11178C>T | CA414809636 | MT-ND4 | c.419C>T (p.Pro140Leu) | |
| MT | m.11179A= | CA2573327414 | MT-ND4 | c.420A= (p.Pro140=) | |
| MT | m.11179A>C | CA913166143 | MT-ND4 | c.420A>C (p.Pro140=) | |
| MT | m.11179A>G | CA913166142 | MT-ND4 | c.420A>G (p.Pro140=) | |
| MT | m.11179A>T | CA913166140 | MT-ND4 | c.420A>T (p.Pro140=) | |
| MT | m.11180G>A | CA414809637 | MT-ND4 | c.421G>A (p.Glu141Lys) | |
| MT | m.11180G>C | CA414809638 | MT-ND4 | c.421G>C (p.Glu141Gln) | |
| MT | m.11180G= | CA2573327416 | MT-ND4 | c.421G= (p.Glu141=) | |
| MT | m.11180G>T | CA414809639 | MT-ND4 | c.421G>T (p.Glu141Ter) | |
| MT | m.11181A= | CA2573327417 | MT-ND4 | c.422A= (p.Glu141=) | |
| MT | m.11181A>C | CA414809640 | MT-ND4 | c.422A>C (p.Glu141Ala) | |
| MT | m.11181A>G | CA414809641 | MT-ND4 | c.422A>G (p.Glu141Gly) | |
| MT | m.11181A>T | CA414809642 | MT-ND4 | c.422A>T (p.Glu141Val) | |
| MT | m.11182A= | CA2499567180 | MT-ND4 | c.423A= (p.Glu141=) | |
| MT | m.11182A>C | CA414809644 | MT-ND4 | c.423A>C (p.Glu141Asp) | |
| MT | m.11182A>G | CA913166146 | MT-ND4 | c.423A>G (p.Glu141=) | dbSNP |
| MT | m.11182A>T | CA414809643 | MT-ND4 | c.423A>T (p.Glu141Asp) | |
| MT | m.11183C>A | CA414809645 | MT-ND4 | c.424C>A (p.Arg142Ser) | |
| MT | m.11183C= | CA2573327419 | MT-ND4 | c.424C= (p.Arg142=) | |
| MT | m.11183C>G | CA414809646 | MT-ND4 | c.424C>G (p.Arg142Gly) | |
| MT | m.11183C>T | CA414809647 | MT-ND4 | c.424C>T (p.Arg142Cys) | |
| MT | m.11184G>A | CA414809648 | MT-ND4 | c.425G>A (p.Arg142His) | |
| MT | m.11184G>C | CA414809649 | MT-ND4 | c.425G>C (p.Arg142Pro) | |
| MT | m.11184G= | CA2573327420 | MT-ND4 | c.425G= (p.Arg142=) | |
| MT | m.11184G>T | CA414809650 | MT-ND4 | c.425G>T (p.Arg142Leu) | |
| MT | m.11185C>A | CA913166159 | MT-ND4 | c.426C>A (p.Arg142=) | |
| MT | m.11185C= | CA2573327421 | MT-ND4 | c.426C= (p.Arg142=) | |
| MT | m.11185C>G | CA913166157 | MT-ND4 | c.426C>G (p.Arg142=) | |
| MT | m.11185C>T | CA913166155 | MT-ND4 | c.426C>T (p.Arg142=) | dbSNP |
| MT | m.11186C>A | CA414809651 | MT-ND4 | c.427C>A (p.Leu143Met) | |
| MT | m.11186C= | CA2499567181 | MT-ND4 | c.427C= (p.Leu143=) | |
| MT | m.11186C>G | CA414809652 | MT-ND4 | c.427C>G (p.Leu143Val) | |
| MT | m.11186C>T | CA337099113 | MT-ND4 | c.427C>T (p.Leu143=) | dbSNP |
| MT | m.11187T>A | CA414809653 | MT-ND4 | c.428T>A (p.Leu143Gln) | |
| MT | m.11187T>C | CA414809654 | MT-ND4 | c.428T>C (p.Leu143Pro) | |
| MT | m.11187T>G | CA414809655 | MT-ND4 | c.428T>G (p.Leu143Arg) | |
| MT | m.11187T= | CA2573327422 | MT-ND4 | c.428T= (p.Leu143=) | |
| MT | m.11188G>A | CA913166169 | MT-ND4 | c.429G>A (p.Leu143=) | dbSNP |
| MT | m.11188G>C | CA913166170 | MT-ND4 | c.429G>C (p.Leu143=) | |
| MT | m.11188G= | CA2499567182 | MT-ND4 | c.429G= (p.Leu143=) | |
| MT | m.11188G>T | CA913166171 | MT-ND4 | c.429G>T (p.Leu143=) | |
| MT | m.11189A= | CA2573327424 | MT-ND4 | c.430A= (p.Asn144=) | |
| MT | m.11189A>C | CA414809658 | MT-ND4 | c.430A>C (p.Asn144His) | |
| MT | m.11189A>G | CA414809656 | MT-ND4 | c.430A>G (p.Asn144Asp) | |
| MT | m.11189A>T | CA414809657 | MT-ND4 | c.430A>T (p.Asn144Tyr) | |
| MT | m.11190A= | CA2573327427 | MT-ND4 | c.431A= (p.Asn144=) | |
| MT | m.11190A>C | CA414809659 | MT-ND4 | c.431A>C (p.Asn144Thr) | |
| MT | m.11190A>G | CA414809660 | MT-ND4 | c.431A>G (p.Asn144Ser) | dbSNP |
| MT | m.11190A>T | CA414809661 | MT-ND4 | c.431A>T (p.Asn144Ile) | |
| MT | m.11191C>A | CA414809662 | MT-ND4 | c.432C>A (p.Asn144Lys) | |
| MT | m.11191C= | CA2499567183 | MT-ND4 | c.432C= (p.Asn144=) | |
| MT | m.11191C>G | CA414809663 | MT-ND4 | c.432C>G (p.Asn144Lys) | |
| MT | m.11191C>T | CA913166181 | MT-ND4 | c.432C>T (p.Asn144=) | dbSNP |
| MT | m.11192G>A | CA414809664 | MT-ND4 | c.433G>A (p.Ala145Thr) | COSMIC |
| MT | m.11192G>C | CA414809665 | MT-ND4 | c.433G>C (p.Ala145Pro) | |
| MT | m.11192G= | CA2573327429 | MT-ND4 | c.433G= (p.Ala145=) | |
| MT | m.11192G>T | CA414809666 | MT-ND4 | c.433G>T (p.Ala145Ser) | |
| MT | m.11193C>A | CA414809667 | MT-ND4 | c.434C>A (p.Ala145Glu) | |
| MT | m.11193C= | CA2573327433 | MT-ND4 | c.434C= (p.Ala145=) | |
| MT | m.11193C>G | CA414809668 | MT-ND4 | c.434C>G (p.Ala145Gly) | |
| MT | m.11193C>T | CA414809669 | MT-ND4 | c.434C>T (p.Ala145Val) | |
| MT | m.11194A= | CA2573327434 | MT-ND4 | c.435A= (p.Ala145=) | |
| MT | m.11194A>C | CA913166195 | MT-ND4 | c.435A>C (p.Ala145=) | |
| MT | m.11194A>G | CA913166196 | MT-ND4 | c.435A>G (p.Ala145=) | |
| MT | m.11194A>T | CA913166201 | MT-ND4 | c.435A>T (p.Ala145=) | |
| MT | m.11195G>A | CA414809672 | MT-ND4 | c.436G>A (p.Gly146Ser) | dbSNP |
| MT | m.11195G>C | CA414809671 | MT-ND4 | c.436G>C (p.Gly146Arg) | |
| MT | m.11195G= | CA2499567184 | MT-ND4 | c.436G= (p.Gly146=) | |
| MT | m.11195G>T | CA414809670 | MT-ND4 | c.436G>T (p.Gly146Cys) | |
| MT | m.11196G>A | CA414809673 | MT-ND4 | c.437G>A (p.Gly146Asp) | COSMIC COSMIC |
| MT | m.11196G>C | CA414809674 | MT-ND4 | c.437G>C (p.Gly146Ala) | |
| MT | m.11196G= | CA2573327437 | MT-ND4 | c.437G= (p.Gly146=) | |
| MT | m.11196G>T | CA414809675 | MT-ND4 | c.437G>T (p.Gly146Val) | |
| MT | m.11197C>A | CA913166215 | MT-ND4 | c.438C>A (p.Gly146=) | |
| MT | m.11197C= | CA2499567185 | MT-ND4 | c.438C= (p.Gly146=) | |
| MT | m.11197C>G | CA913166217 | MT-ND4 | c.438C>G (p.Gly146=) | |
| MT | m.11197C>T | CA337099115 | MT-ND4 | c.438C>T (p.Gly146=) | dbSNP |
| MT | m.11198A= | CA2573327441 | MT-ND4 | c.439A= (p.Thr147=) | |
| MT | m.11198A>C | CA414809676 | MT-ND4 | c.439A>C (p.Thr147Pro) | |
| MT | m.11198A>G | CA414809677 | MT-ND4 | c.439A>G (p.Thr147Ala) | |
| MT | m.11198A>T | CA414809678 | MT-ND4 | c.439A>T (p.Thr147Ser) | |
| MT | m.11199C>A | CA414809679 | MT-ND4 | c.440C>A (p.Thr147Lys) | |
| MT | m.11199C= | CA2573327444 | MT-ND4 | c.440C= (p.Thr147=) | |
| MT | m.11199C>G | CA414809680 | MT-ND4 | c.440C>G (p.Thr147Arg) | |
| MT | m.11199C>T | CA414809681 | MT-ND4 | c.440C>T (p.Thr147Ile) | |
| MT | m.11200A= | CA2573327445 | MT-ND4 | c.441A= (p.Thr147=) | |
| MT | m.11200A>C | CA913166231 | MT-ND4 | c.441A>C (p.Thr147=) | |
| MT | m.11200A>G | CA913166233 | MT-ND4 | c.441A>G (p.Thr147=) | |
| MT | m.11200A>T | CA913166232 | MT-ND4 | c.441A>T (p.Thr147=) | |
| MT | m.11201T>A | CA414809682 | MT-ND4 | c.442T>A (p.Tyr148Asn) | |
| MT | m.11201T>C | CA414809683 | MT-ND4 | c.442T>C (p.Tyr148His) | |
| MT | m.11201T>G | CA414809684 | MT-ND4 | c.442T>G (p.Tyr148Asp) | |
| MT | m.11201T= | CA2573327446 | MT-ND4 | c.442T= (p.Tyr148=) | |
| MT | m.11202A= | CA2573327451 | MT-ND4 | c.443A= (p.Tyr148=) | |
| MT | m.11202A>C | CA414809687 | MT-ND4 | c.443A>C (p.Tyr148Ser) | |
| MT | m.11202A>G | CA414809685 | MT-ND4 | c.443A>G (p.Tyr148Cys) | |
| MT | m.11202A>T | CA414809686 | MT-ND4 | c.443A>T (p.Tyr148Phe) | |
| MT | m.11203C>A | CA414809688 | MT-ND4 | c.444C>A (p.Tyr148Ter) | |
| MT | m.11203C= | CA2499567186 | MT-ND4 | c.444C= (p.Tyr148=) | |
| MT | m.11203C>G | CA414809689 | MT-ND4 | c.444C>G (p.Tyr148Ter) | |
| MT | m.11203C>T | CA913166244 | MT-ND4 | c.444C>T (p.Tyr148=) | dbSNP |
| MT | m.11204T>A | CA414809690 | MT-ND4 | c.445T>A (p.Phe149Ile) | |
| MT | m.11204T>C | CA337099117 | MT-ND4 | c.445T>C (p.Phe149Leu) | ClinVar dbSNP |
| MT | m.11204T>G | CA414809691 | MT-ND4 | c.445T>G (p.Phe149Val) | |
| MT | m.11204T= | CA2499567187 | MT-ND4 | c.445T= (p.Phe149=) | |
| MT | m.11205T>A | CA414809692 | MT-ND4 | c.446T>A (p.Phe149Tyr) | |
| MT | m.11205T>C | CA414809693 | MT-ND4 | c.446T>C (p.Phe149Ser) | |
| MT | m.11205T>G | CA414809694 | MT-ND4 | c.446T>G (p.Phe149Cys) | |
| MT | m.11205T= | CA2573327455 | MT-ND4 | c.446T= (p.Phe149=) |