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.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | 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.12114_14420del | CA645373342 | ClinVar | ||
| MT | m.13315C>A | CA414817438 | MT-ND5 | c.979C>A (p.Leu327Met) | |
| MT | m.13315C= | CA2499567952 | MT-ND5 | c.979C= (p.Leu327=) | |
| MT | m.13315C>G | CA414817439 | MT-ND5 | c.979C>G (p.Leu327Val) | |
| MT | m.13315C>T | CA337099667 | MT-ND5 | c.979C>T (p.Leu327=) | dbSNP |
| MT | m.13316T>A | CA414817443 | MT-ND5 | c.980T>A (p.Leu327Gln) | |
| MT | m.13316T>C | CA414817446 | MT-ND5 | c.980T>C (p.Leu327Pro) | |
| MT | m.13316T>G | CA414817444 | MT-ND5 | c.980T>G (p.Leu327Arg) | |
| MT | m.13316T= | CA2573323933 | MT-ND5 | c.980T= (p.Leu327=) | |
| MT | m.13317G>A | CA913170894 | MT-ND5 | c.981G>A (p.Leu327=) | dbSNP |
| MT | m.13317G>C | CA913170895 | MT-ND5 | c.981G>C (p.Leu327=) | |
| MT | m.13317G= | CA2499567953 | MT-ND5 | c.981G= (p.Leu327=) | |
| MT | m.13317G>T | CA913170896 | MT-ND5 | c.981G>T (p.Leu327=) | |
| MT | m.13318C>A | CA414817448 | MT-ND5 | c.982C>A (p.His328Asn) | |
| MT | m.13318C= | CA2573323936 | MT-ND5 | c.982C= (p.His328=) | |
| MT | m.13318C>G | CA414817450 | MT-ND5 | c.982C>G (p.His328Asp) | |
| MT | m.13318C>T | CA414817452 | MT-ND5 | c.982C>T (p.His328Tyr) | |
| MT | m.13319A= | CA2573323939 | MT-ND5 | c.983A= (p.His328=) | |
| MT | m.13319A>C | CA414817455 | MT-ND5 | c.983A>C (p.His328Pro) | |
| MT | m.13319A>G | CA414817456 | MT-ND5 | c.983A>G (p.His328Arg) | |
| MT | m.13319A>T | CA414817457 | MT-ND5 | c.983A>T (p.His328Leu) | |
| MT | m.13320C>A | CA414817460 | MT-ND5 | c.984C>A (p.His328Gln) | |
| MT | m.13320C= | CA2573323941 | MT-ND5 | c.984C= (p.His328=) | |
| MT | m.13320C>G | CA414817462 | MT-ND5 | c.984C>G (p.His328Gln) | |
| MT | m.13320C>T | CA913170897 | MT-ND5 | c.984C>T (p.His328=) | dbSNP |
| MT | m.13321A= | CA2499567954 | MT-ND5 | c.985A= (p.Ile329=) | |
| MT | m.13321A>C | CA414817464 | MT-ND5 | c.985A>C (p.Ile329Leu) | |
| MT | m.13321A>G | CA414817466 | MT-ND5 | c.985A>G (p.Ile329Val) | dbSNP |
| MT | m.13321A>T | CA414817468 | MT-ND5 | c.985A>T (p.Ile329Phe) | |
| MT | m.13322T>A | CA414817474 | MT-ND5 | c.986T>A (p.Ile329Asn) | |
| MT | m.13322T>C | CA414817470 | MT-ND5 | c.986T>C (p.Ile329Thr) | |
| MT | m.13322T>G | CA414817472 | MT-ND5 | c.986T>G (p.Ile329Ser) | |
| MT | m.13322T= | CA2513289431 | MT-ND5 | c.986T= (p.Ile329=) | |
| MT | m.13323C>A | CA913170898 | MT-ND5 | c.987C>A (p.Ile329=) | |
| MT | m.13323C= | CA2499567955 | MT-ND5 | c.987C= (p.Ile329=) | |
| MT | m.13323C>G | CA414817475 | MT-ND5 | c.987C>G (p.Ile329Met) | |
| MT | m.13323C>T | CA913170899 | MT-ND5 | c.987C>T (p.Ile329=) | dbSNP |
| MT | m.13324T>A | CA414817476 | MT-ND5 | c.988T>A (p.Cys330Ser) | |
| MT | m.13324T>C | CA414817477 | MT-ND5 | c.988T>C (p.Cys330Arg) | |
| MT | m.13324T>G | CA414817478 | MT-ND5 | c.988T>G (p.Cys330Gly) | |
| MT | m.13324T= | CA2573323951 | MT-ND5 | c.988T= (p.Cys330=) | |
| MT | m.13325G>A | CA414817479 | MT-ND5 | c.989G>A (p.Cys330Tyr) | dbSNP |
| MT | m.13325G>C | CA414817480 | MT-ND5 | c.989G>C (p.Cys330Ser) | |
| MT | m.13325G= | CA2499567956 | MT-ND5 | c.989G= (p.Cys330=) | |
| MT | m.13325G>T | CA414817481 | MT-ND5 | c.989G>T (p.Cys330Phe) | |
| MT | m.13326T>A | CA414817482 | MT-ND5 | c.990T>A (p.Cys330Ter) | |
| MT | m.13326T>C | CA337099668 | MT-ND5 | c.990T>C (p.Cys330=) | dbSNP COSMIC |
| MT | m.13326T>G | CA414817483 | MT-ND5 | c.990T>G (p.Cys330Trp) | |
| MT | m.13326T= | CA2499567957 | MT-ND5 | c.990T= (p.Cys330=) | |
| MT | m.13327A= | CA2499567958 | MT-ND5 | c.991A= (p.Thr331=) | |
| MT | m.13327A>C | CA414817484 | MT-ND5 | c.991A>C (p.Thr331Pro) | |
| MT | m.13327A>G | CA414817485 | MT-ND5 | c.991A>G (p.Thr331Ala) | ClinVar dbSNP |
| MT | m.13327A>T | CA414817486 | MT-ND5 | c.991A>T (p.Thr331Ser) | |
| MT | m.13328C>A | CA414817490 | MT-ND5 | c.992C>A (p.Thr331Asn) | ClinVar dbSNP |
| MT | m.13328C= | CA2499567959 | MT-ND5 | c.992C= (p.Thr331=) | |
| MT | m.13328C>G | CA414817487 | MT-ND5 | c.992C>G (p.Thr331Ser) | |
| MT | m.13328C>T | CA414817489 | MT-ND5 | c.992C>T (p.Thr331Ile) | |
| MT | m.13329C>A | CA913170902 | MT-ND5 | c.993C>A (p.Thr331=) | |
| MT | m.13329C= | CA2499567960 | MT-ND5 | c.993C= (p.Thr331=) | |
| MT | m.13329C>G | CA913170900 | MT-ND5 | c.993C>G (p.Thr331=) | |
| MT | m.13329C>T | CA913170901 | MT-ND5 | c.993C>T (p.Thr331=) | dbSNP |
| MT | m.13330C>A | CA414817492 | MT-ND5 | c.994C>A (p.His332Asn) | |
| MT | m.13330C= | CA2573323976 | MT-ND5 | c.994C= (p.His332=) | |
| MT | m.13330C>G | CA414817494 | MT-ND5 | c.994C>G (p.His332Asp) | |
| MT | m.13330C>T | CA414817496 | MT-ND5 | c.994C>T (p.His332Tyr) | |
| MT | m.13331A= | CA2573323980 | MT-ND5 | c.995A= (p.His332=) | |
| MT | m.13331A>C | CA414817498 | MT-ND5 | c.995A>C (p.His332Pro) | |
| MT | m.13331A>G | CA414817500 | MT-ND5 | c.995A>G (p.His332Arg) | |
| MT | m.13331A>T | CA414817502 | MT-ND5 | c.995A>T (p.His332Leu) | |
| MT | m.13332C>A | CA414817505 | MT-ND5 | c.996C>A (p.His332Gln) | |
| MT | m.13332C= | CA2573323990 | MT-ND5 | c.996C= (p.His332=) | |
| MT | m.13332C>G | CA414817506 | MT-ND5 | c.996C>G (p.His332Gln) | |
| MT | m.13332C>T | CA913170903 | MT-ND5 | c.996C>T (p.His332=) | |
| MT | m.13333G>A | CA414817509 | MT-ND5 | c.997G>A (p.Ala333Thr) | COSMIC |
| MT | m.13333G>C | CA414817510 | MT-ND5 | c.997G>C (p.Ala333Pro) | |
| MT | m.13333G= | CA2573323993 | MT-ND5 | c.997G= (p.Ala333=) | |
| MT | m.13333G>T | CA414817511 | MT-ND5 | c.997G>T (p.Ala333Ser) | |
| MT | m.13334C>A | CA414817513 | MT-ND5 | c.998C>A (p.Ala333Asp) | |
| MT | m.13334C= | CA2573323996 | MT-ND5 | c.998C= (p.Ala333=) | |
| MT | m.13334C>G | CA414817517 | MT-ND5 | c.998C>G (p.Ala333Gly) | |
| MT | m.13334C>T | CA414817515 | MT-ND5 | c.998C>T (p.Ala333Val) | |
| MT | m.13335C>A | CA913170904 | MT-ND5 | c.999C>A (p.Ala333=) | |
| MT | m.13335C= | CA2499567961 | MT-ND5 | c.999C= (p.Ala333=) | |
| MT | m.13335C>G | CA913170905 | MT-ND5 | c.999C>G (p.Ala333=) | |
| MT | m.13335C>T | CA337099669 | MT-ND5 | c.999C>T (p.Ala333=) | dbSNP |
| MT | m.13336T>A | CA414817525 | MT-ND5 | c.1000T>A (p.Phe334Ile) | |
| MT | m.13336T>C | CA414817521 | MT-ND5 | c.1000T>C (p.Phe334Leu) | ClinVar dbSNP |
| MT | m.13336T>G | CA414817523 | MT-ND5 | c.1000T>G (p.Phe334Val) | |
| MT | m.13336T= | CA2499567962 | MT-ND5 | c.1000T= (p.Phe334=) | |
| MT | m.13337T>A | CA414817527 | MT-ND5 | c.1001T>A (p.Phe334Tyr) | |
| MT | m.13337T>C | CA414817529 | MT-ND5 | c.1001T>C (p.Phe334Ser) | |
| MT | m.13337T>G | CA414817531 | MT-ND5 | c.1001T>G (p.Phe334Cys) | |
| MT | m.13337T= | CA2573324008 | MT-ND5 | c.1001T= (p.Phe334=) | |
| MT | m.13338C>A | CA414817534 | MT-ND5 | c.1002C>A (p.Phe334Leu) | |
| MT | m.13338C= | CA2499567963 | MT-ND5 | c.1002C= (p.Phe334=) | |
| MT | m.13338C>G | CA414817535 | MT-ND5 | c.1002C>G (p.Phe334Leu) | |
| MT | m.13338C>T | CA913170906 | MT-ND5 | c.1002C>T (p.Phe334=) | dbSNP |
| MT | m.13339T>A | CA414817537 | MT-ND5 | c.1003T>A (p.Phe335Ile) | dbSNP |
| MT | m.13339T>C | CA414817539 | MT-ND5 | c.1003T>C (p.Phe335Leu) | |
| MT | m.13339T>G | CA414817541 | MT-ND5 | c.1003T>G (p.Phe335Val) | |
| MT | m.13339T= | CA2499567964 | MT-ND5 | c.1003T= (p.Phe335=) | |
| MT | m.13340T>A | CA414817547 | MT-ND5 | c.1004T>A (p.Phe335Tyr) | |
| MT | m.13340T>C | CA414817544 | MT-ND5 | c.1004T>C (p.Phe335Ser) | |
| MT | m.13340T>G | CA414817546 | MT-ND5 | c.1004T>G (p.Phe335Cys) | |
| MT | m.13340T= | CA2573324022 | MT-ND5 | c.1004T= (p.Phe335=) | |
| MT | m.13341C>A | CA414817548 | MT-ND5 | c.1005C>A (p.Phe335Leu) | |
| MT | m.13341C= | CA2573324025 | MT-ND5 | c.1005C= (p.Phe335=) | |
| MT | m.13341C>G | CA414817550 | MT-ND5 | c.1005C>G (p.Phe335Leu) | |
| MT | m.13341C>T | CA913170907 | MT-ND5 | c.1005C>T (p.Phe335=) | |
| MT | m.13342A= | CA2573324027 | MT-ND5 | c.1006A= (p.Lys336=) | |
| MT | m.13342A>C | CA414817553 | MT-ND5 | c.1006A>C (p.Lys336Gln) | |
| MT | m.13342A>G | CA414817554 | MT-ND5 | c.1006A>G (p.Lys336Glu) | |
| MT | m.13342A>T | CA414817556 | MT-ND5 | c.1006A>T (p.Lys336Ter) | |
| MT | m.13343A= | CA2573324030 | MT-ND5 | c.1007A= (p.Lys336=) | |
| MT | m.13343A>C | CA414817559 | MT-ND5 | c.1007A>C (p.Lys336Thr) | |
| MT | m.13343A>G | CA414817560 | MT-ND5 | c.1007A>G (p.Lys336Arg) | |
| MT | m.13343A>T | CA414817563 | MT-ND5 | c.1007A>T (p.Lys336Ile) | |
| MT | m.13344A= | CA2499567965 | MT-ND5 | c.1008A= (p.Lys336=) | |
| MT | m.13344A>C | CA414817564 | MT-ND5 | c.1008A>C (p.Lys336Asn) | |
| MT | m.13344A>G | CA913170908 | MT-ND5 | c.1008A>G (p.Lys336=) | dbSNP |
| MT | m.13344A>T | CA414817566 | MT-ND5 | c.1008A>T (p.Lys336Asn) | |
| MT | m.13345G>A | CA414817570 | MT-ND5 | c.1009G>A (p.Ala337Thr) | ClinVar |
| MT | m.13345G>C | CA414817573 | MT-ND5 | c.1009G>C (p.Ala337Pro) | |
| MT | m.13345G= | CA2573324036 | MT-ND5 | c.1009G= (p.Ala337=) | |
| MT | m.13345G>T | CA414817569 | MT-ND5 | c.1009G>T (p.Ala337Ser) | |
| MT | m.13346C>A | CA414817575 | MT-ND5 | c.1010C>A (p.Ala337Asp) | |
| MT | m.13346C= | CA2573324041 | MT-ND5 | c.1010C= (p.Ala337=) | |
| MT | m.13346C>G | CA414817577 | MT-ND5 | c.1010C>G (p.Ala337Gly) | |
| MT | m.13346C>T | CA414817579 | MT-ND5 | c.1010C>T (p.Ala337Val) | |
| MT | m.13347C>A | CA913170911 | MT-ND5 | c.1011C>A (p.Ala337=) | |
| MT | m.13347C= | CA2499567966 | MT-ND5 | c.1011C= (p.Ala337=) | |
| MT | m.13347C>G | CA913170909 | MT-ND5 | c.1011C>G (p.Ala337=) | |
| MT | m.13347C>T | CA913170910 | MT-ND5 | c.1011C>T (p.Ala337=) | dbSNP |
| MT | m.13348A= | CA2573324046 | MT-ND5 | c.1012A= (p.Ile338=) | |
| MT | m.13348A>C | CA414817581 | MT-ND5 | c.1012A>C (p.Ile338Leu) | |
| MT | m.13348A>G | CA414817582 | MT-ND5 | c.1012A>G (p.Ile338Val) | |
| MT | m.13348A>T | CA414817584 | MT-ND5 | c.1012A>T (p.Ile338Leu) | |
| MT | m.13349T>A | CA414817587 | MT-ND5 | c.1013T>A (p.Ile338Lys) | |
| MT | m.13349T>C | CA414817588 | MT-ND5 | c.1013T>C (p.Ile338Thr) | COSMIC |
| MT | m.13349T>G | CA414817590 | MT-ND5 | c.1013T>G (p.Ile338Arg) | |
| MT | m.13349T= | CA2573324050 | MT-ND5 | c.1013T= (p.Ile338=) | |
| MT | m.13350A= | CA2499567967 | MT-ND5 | c.1014A= (p.Ile338=) | |
| MT | m.13350A>C | CA913170913 | MT-ND5 | c.1014A>C (p.Ile338=) | |
| MT | m.13350A>G | CA337099670 | MT-ND5 | c.1014A>G (p.Ile338Met) | dbSNP |
| MT | m.13350A>T | CA913170912 | MT-ND5 | c.1014A>T (p.Ile338=) | |
| MT | m.13351C>A | CA414817594 | MT-ND5 | c.1015C>A (p.Leu339Ile) | |
| MT | m.13351C= | CA2499567968 | MT-ND5 | c.1015C= (p.Leu339=) | |
| MT | m.13351C>G | CA414817595 | MT-ND5 | c.1015C>G (p.Leu339Val) | |
| MT | m.13351C>T | CA913170914 | MT-ND5 | c.1015C>T (p.Leu339=) | dbSNP |
| MT | m.13352T>A | CA414817601 | MT-ND5 | c.1016T>A (p.Leu339Gln) | |
| MT | m.13352T>C | CA414817597 | MT-ND5 | c.1016T>C (p.Leu339Pro) | COSMIC |
| MT | m.13352T>G | CA414817599 | MT-ND5 | c.1016T>G (p.Leu339Arg) | |
| MT | m.13352T= | CA2573324055 | MT-ND5 | c.1016T= (p.Leu339=) | |
| MT | m.13353A= | CA2499567969 | MT-ND5 | c.1017A= (p.Leu339=) | |
| MT | m.13353A>C | CA913170917 | MT-ND5 | c.1017A>C (p.Leu339=) | |
| MT | m.13353A>G | CA913170916 | MT-ND5 | c.1017A>G (p.Leu339=) | dbSNP |
| MT | m.13353A>T | CA913170915 | MT-ND5 | c.1017A>T (p.Leu339=) | |
| MT | m.13354T>A | CA414817603 | MT-ND5 | c.1018T>A (p.Phe340Ile) | |
| MT | m.13354T>C | CA414817605 | MT-ND5 | c.1018T>C (p.Phe340Leu) | |
| MT | m.13354T>G | CA414817607 | MT-ND5 | c.1018T>G (p.Phe340Val) | |
| MT | m.13354T= | CA2573324058 | MT-ND5 | c.1018T= (p.Phe340=) | |
| MT | m.13355T>A | CA414817609 | MT-ND5 | c.1019T>A (p.Phe340Tyr) | |
| MT | m.13355T>C | CA414817611 | MT-ND5 | c.1019T>C (p.Phe340Ser) | |
| MT | m.13355T>G | CA414817613 | MT-ND5 | c.1019T>G (p.Phe340Cys) | |
| MT | m.13355T= | CA2573324063 | MT-ND5 | c.1019T= (p.Phe340=) | |
| MT | m.13356T>A | CA414817615 | MT-ND5 | c.1020T>A (p.Phe340Leu) | |
| MT | m.13356T>C | CA913170918 | MT-ND5 | c.1020T>C (p.Phe340=) | dbSNP |
| MT | m.13356T>G | CA414817617 | MT-ND5 | c.1020T>G (p.Phe340Leu) | |
| MT | m.13356T= | CA2499567970 | MT-ND5 | c.1020T= (p.Phe340=) | |
| MT | m.13357A= | CA2573324071 | MT-ND5 | c.1021A= (p.Met341=) | |
| MT | m.13357A>C | CA414817619 | MT-ND5 | c.1021A>C (p.Met341Leu) | |
| MT | m.13357A>G | CA414817620 | MT-ND5 | c.1021A>G (p.Met341Val) | |
| MT | m.13357A>T | CA414817623 | MT-ND5 | c.1021A>T (p.Met341Leu) | |
| MT | m.13358T>A | CA414817625 | MT-ND5 | c.1022T>A (p.Met341Lys) | |
| MT | m.13358T>C | CA414817629 | MT-ND5 | c.1022T>C (p.Met341Thr) | |
| MT | m.13358T>G | CA414817626 | MT-ND5 | c.1022T>G (p.Met341Arg) | |
| MT | m.13358T= | CA2573324075 | MT-ND5 | c.1022T= (p.Met341=) | |
| MT | m.13359G>A | CA414817631 | MT-ND5 | c.1023G>A (p.Met341Ile) | dbSNP COSMIC |
| MT | m.13359G>C | CA414817635 | MT-ND5 | c.1023G>C (p.Met341Ile) | dbSNP |
| MT | m.13359G= | CA2499567971 | MT-ND5 | c.1023G= (p.Met341=) | |
| MT | m.13359G>T | CA414817632 | MT-ND5 | c.1023G>T (p.Met341Ile) | |
| MT | m.13360T>A | CA414817637 | MT-ND5 | c.1024T>A (p.Cys342Ser) | |
| MT | m.13360T>C | CA414817641 | MT-ND5 | c.1024T>C (p.Cys342Arg) | |
| MT | m.13360T>G | CA414817639 | MT-ND5 | c.1024T>G (p.Cys342Gly) | |
| MT | m.13360T= | CA2573324084 | MT-ND5 | c.1024T= (p.Cys342=) | |
| MT | m.13361G>A | CA414817643 | MT-ND5 | c.1025G>A (p.Cys342Tyr) | |
| MT | m.13361G>C | CA414817646 | MT-ND5 | c.1025G>C (p.Cys342Ser) | |
| MT | m.13361G= | CA2573324089 | MT-ND5 | c.1025G= (p.Cys342=) | |
| MT | m.13361G>T | CA414817645 | MT-ND5 | c.1025G>T (p.Cys342Phe) | |
| MT | m.13362C>A | CA414817649 | MT-ND5 | c.1026C>A (p.Cys342Ter) | |
| MT | m.13362C= | CA2499567972 | MT-ND5 | c.1026C= (p.Cys342=) | |
| MT | m.13362C>G | CA414817651 | MT-ND5 | c.1026C>G (p.Cys342Trp) | |
| MT | m.13362C>T | CA913170919 | MT-ND5 | c.1026C>T (p.Cys342=) | dbSNP |
| MT | m.13363T>A | CA414817653 | MT-ND5 | c.1027T>A (p.Ser343Thr) | |
| MT | m.13363T>C | CA414817655 | MT-ND5 | c.1027T>C (p.Ser343Pro) | |
| MT | m.13363T>G | CA414817657 | MT-ND5 | c.1027T>G (p.Ser343Ala) | |
| MT | m.13363T= | CA2573324100 | MT-ND5 | c.1027T= (p.Ser343=) | |
| MT | m.13364C>A | CA414817659 | MT-ND5 | c.1028C>A (p.Ser343Tyr) | |
| MT | m.13364C= | CA2573324108 | MT-ND5 | c.1028C= (p.Ser343=) | |
| MT | m.13364C>G | CA414817661 | MT-ND5 | c.1028C>G (p.Ser343Cys) | |
| MT | m.13364C>T | CA414817662 | MT-ND5 | c.1028C>T (p.Ser343Phe) | |
| MT | m.13365C>A | CA913170920 | MT-ND5 | c.1029C>A (p.Ser343=) | |
| MT | m.13365C= | CA2499567973 | MT-ND5 | c.1029C= (p.Ser343=) | |
| MT | m.13365C>G | CA913170921 | MT-ND5 | c.1029C>G (p.Ser343=) | |
| MT | m.13365C>T | CA913170922 | MT-ND5 | c.1029C>T (p.Ser343=) | dbSNP |
| MT | m.13366G>A | CA414817668 | MT-ND5 | c.1030G>A (p.Gly344Arg) | |
| MT | m.13366G>C | CA414817667 | MT-ND5 | c.1030G>C (p.Gly344Arg) | |
| MT | m.13366G= | CA2573324118 | MT-ND5 | c.1030G= (p.Gly344=) | |
| MT | m.13366G>T | CA414817665 | MT-ND5 | c.1030G>T (p.Gly344Trp) | |
| MT | m.13367G>A | CA414817671 | MT-ND5 | c.1031G>A (p.Gly344Glu) | COSMIC |
| MT | m.13367G>C | CA414817672 | MT-ND5 | c.1031G>C (p.Gly344Ala) | |
| MT | m.13367G= | CA2573324123 | MT-ND5 | c.1031G= (p.Gly344=) | |
| MT | m.13367G>T | CA414817674 | MT-ND5 | c.1031G>T (p.Gly344Val) | |
| MT | m.13368G>A | CA337099671 | MT-ND5 | c.1032G>A (p.Gly344=) | dbSNP |
| MT | m.13368G>C | CA913170923 | MT-ND5 | c.1032G>C (p.Gly344=) | |
| MT | m.13368G= | CA2499567974 | MT-ND5 | c.1032G= (p.Gly344=) | |
| MT | m.13368G>T | CA913170924 | MT-ND5 | c.1032G>T (p.Gly344=) | |
| MT | m.13369T>A | CA414817678 | MT-ND5 | c.1033T>A (p.Ser345Thr) | |
| MT | m.13369T>C | CA414817679 | MT-ND5 | c.1033T>C (p.Ser345Pro) | ClinVar dbSNP |
| MT | m.13369T>G | CA414817681 | MT-ND5 | c.1033T>G (p.Ser345Ala) | |
| MT | m.13369T= | CA2499567975 | MT-ND5 | c.1033T= (p.Ser345=) | |
| MT | m.13370C>A | CA414817684 | MT-ND5 | c.1034C>A (p.Ser345Tyr) | |
| MT | m.13370C= | CA2573324144 | MT-ND5 | c.1034C= (p.Ser345=) | |
| MT | m.13370C>G | CA414817685 | MT-ND5 | c.1034C>G (p.Ser345Cys) | |
| MT | m.13370C>T | CA414817687 | MT-ND5 | c.1034C>T (p.Ser345Phe) | |
| MT | m.13371C>A | CA913170927 | MT-ND5 | c.1035C>A (p.Ser345=) | |
| MT | m.13371C= | CA2573324149 | MT-ND5 | c.1035C= (p.Ser345=) | |
| MT | m.13371C>G | CA913170926 | MT-ND5 | c.1035C>G (p.Ser345=) | |
| MT | m.13371C>T | CA913170925 | MT-ND5 | c.1035C>T (p.Ser345=) | |
| MT | m.13372A= | CA2573324154 | MT-ND5 | c.1036A= (p.Ile346=) | |
| MT | m.13372A>C | CA414817691 | MT-ND5 | c.1036A>C (p.Ile346Leu) | |
| MT | m.13372A>G | CA414817693 | MT-ND5 | c.1036A>G (p.Ile346Val) | |
| MT | m.13372A>T | CA414817690 | MT-ND5 | c.1036A>T (p.Ile346Phe) | |
| MT | m.13373T>A | CA414817695 | MT-ND5 | c.1037T>A (p.Ile346Asn) | |
| MT | m.13373T>C | CA414817697 | MT-ND5 | c.1037T>C (p.Ile346Thr) | |
| MT | m.13373T>G | CA414817698 | MT-ND5 | c.1037T>G (p.Ile346Ser) | |
| MT | m.13373T= | CA2573324157 | MT-ND5 | c.1037T= (p.Ile346=) | |
| MT | m.13374C>A | CA913170929 | MT-ND5 | c.1038C>A (p.Ile346=) | |
| MT | m.13374C= | CA2499567976 | MT-ND5 | c.1038C= (p.Ile346=) | |
| MT | m.13374C>G | CA414817701 | MT-ND5 | c.1038C>G (p.Ile346Met) | |
| MT | m.13374C>T | CA913170928 | MT-ND5 | c.1038C>T (p.Ile346=) | dbSNP |
| MT | m.13375A= | CA2499567977 | MT-ND5 | c.1039A= (p.Ile347=) | |
| MT | m.13375A>C | CA414817704 | MT-ND5 | c.1039A>C (p.Ile347Leu) | |
| MT | m.13375A>G | CA414817706 | MT-ND5 | c.1039A>G (p.Ile347Val) | ClinVar dbSNP |
| MT | m.13375A>T | CA414817707 | MT-ND5 | c.1039A>T (p.Ile347Phe) | |
| MT | m.13376T>A | CA414817709 | MT-ND5 | c.1040T>A (p.Ile347Asn) | |
| MT | m.13376T>C | CA414817711 | MT-ND5 | c.1040T>C (p.Ile347Thr) | ClinVar dbSNP |
| MT | m.13376T>G | CA414817713 | MT-ND5 | c.1040T>G (p.Ile347Ser) | |
| MT | m.13376T= | CA2499567978 | MT-ND5 | c.1040T= (p.Ile347=) | |
| MT | m.13377C>A | CA913170931 | MT-ND5 | c.1041C>A (p.Ile347=) | |
| MT | m.13377C= | CA2573324175 | MT-ND5 | c.1041C= (p.Ile347=) | |
| MT | m.13377C>G | CA414817715 | MT-ND5 | c.1041C>G (p.Ile347Met) | |
| MT | m.13377C>T | CA913170930 | MT-ND5 | c.1041C>T (p.Ile347=) | dbSNP |
| MT | m.13378C>A | CA414817721 | MT-ND5 | c.1042C>A (p.His348Asn) | |
| MT | m.13378C= | CA2573324179 | MT-ND5 | c.1042C= (p.His348=) | |
| MT | m.13378C>G | CA414817718 | MT-ND5 | c.1042C>G (p.His348Asp) | |
| MT | m.13378C>T | CA414817719 | MT-ND5 | c.1042C>T (p.His348Tyr) | |
| MT | m.13379A= | CA2573324184 | MT-ND5 | c.1043A= (p.His348=) | |
| MT | m.13379A>C | CA414817724 | MT-ND5 | c.1043A>C (p.His348Pro) | ClinVar dbSNP |
| MT | m.13379A>G | CA414817725 | MT-ND5 | c.1043A>G (p.His348Arg) | ClinVar dbSNP |
| MT | m.13379A>T | CA414817727 | MT-ND5 | c.1043A>T (p.His348Leu) | |
| MT | m.13380C>A | CA414817729 | MT-ND5 | c.1044C>A (p.His348Gln) | |
| MT | m.13380C= | CA2573324188 | MT-ND5 | c.1044C= (p.His348=) | |
| MT | m.13380C>G | CA414817731 | MT-ND5 | c.1044C>G (p.His348Gln) | |
| MT | m.13380C>T | CA913170932 | MT-ND5 | c.1044C>T (p.His348=) | |
| MT | m.13381A= | CA2573324191 | MT-ND5 | c.1045A= (p.Asn349=) | |
| MT | m.13381A>C | CA414817733 | MT-ND5 | c.1045A>C (p.Asn349His) | |
| MT | m.13381A>G | CA414817735 | MT-ND5 | c.1045A>G (p.Asn349Asp) | |
| MT | m.13381A>T | CA414817737 | MT-ND5 | c.1045A>T (p.Asn349Tyr) | |
| MT | m.13382A= | CA2573324194 | MT-ND5 | c.1046A= (p.Asn349=) | |
| MT | m.13382A>C | CA414817739 | MT-ND5 | c.1046A>C (p.Asn349Thr) | |
| MT | m.13382A>G | CA414817741 | MT-ND5 | c.1046A>G (p.Asn349Ser) | |
| MT | m.13382A>T | CA414817743 | MT-ND5 | c.1046A>T (p.Asn349Ile) | |
| MT | m.13383C>A | CA414817746 | MT-ND5 | c.1047C>A (p.Asn349Lys) | |
| MT | m.13383C= | CA2499567979 | MT-ND5 | c.1047C= (p.Asn349=) | |
| MT | m.13383C>G | CA414817745 | MT-ND5 | c.1047C>G (p.Asn349Lys) | |
| MT | m.13383C>T | CA913170933 | MT-ND5 | c.1047C>T (p.Asn349=) | dbSNP |
| MT | m.13384C>A | CA414817749 | MT-ND5 | c.1048C>A (p.Leu350Ile) | |
| MT | m.13384C= | CA2499567980 | MT-ND5 | c.1048C= (p.Leu350=) | |
| MT | m.13384C>G | CA414817752 | MT-ND5 | c.1048C>G (p.Leu350Val) | |
| MT | m.13384C>T | CA337099672 | MT-ND5 | c.1048C>T (p.Leu350Phe) | dbSNP |
| MT | m.13385T>A | CA414817755 | MT-ND5 | c.1049T>A (p.Leu350His) | |
| MT | m.13385T>C | CA414817756 | MT-ND5 | c.1049T>C (p.Leu350Pro) | |
| MT | m.13385T>G | CA414817758 | MT-ND5 | c.1049T>G (p.Leu350Arg) | |
| MT | m.13385T= | CA2573324200 | MT-ND5 | c.1049T= (p.Leu350=) | |
| MT | m.13386T>A | CA913170934 | MT-ND5 | c.1050T>A (p.Leu350=) | |
| MT | m.13386T>C | CA913170935 | MT-ND5 | c.1050T>C (p.Leu350=) | dbSNP |
| MT | m.13386T>G | CA913170936 | MT-ND5 | c.1050T>G (p.Leu350=) | |
| MT | m.13386T= | CA2499567981 | MT-ND5 | c.1050T= (p.Leu350=) | |
| MT | m.13387A= | CA2573324204 | MT-ND5 | c.1051A= (p.Asn351=) | |
| MT | m.13387A>C | CA414817761 | MT-ND5 | c.1051A>C (p.Asn351His) | |
| MT | m.13387A>G | CA414817762 | MT-ND5 | c.1051A>G (p.Asn351Asp) | |
| MT | m.13387A>T | CA414817763 | MT-ND5 | c.1051A>T (p.Asn351Tyr) | |
| MT | m.13388A= | CA2499567982 | MT-ND5 | c.1052A= (p.Asn351=) | |
| MT | m.13388A>C | CA414817766 | MT-ND5 | c.1052A>C (p.Asn351Thr) | |
| MT | m.13388A>G | CA414817768 | MT-ND5 | c.1052A>G (p.Asn351Ser) | ClinVar dbSNP |
| MT | m.13388A>T | CA414817769 | MT-ND5 | c.1052A>T (p.Asn351Ile) | |
| MT | m.13389C>A | CA414817772 | MT-ND5 | c.1053C>A (p.Asn351Lys) | |
| MT | m.13389C= | CA2573324211 | MT-ND5 | c.1053C= (p.Asn351=) | |
| MT | m.13389C>G | CA414817774 | MT-ND5 | c.1053C>G (p.Asn351Lys) | |
| MT | m.13389C>T | CA913170937 | MT-ND5 | c.1053C>T (p.Asn351=) | |
| MT | m.13390A= | CA2499567983 | MT-ND5 | c.1054A= (p.Asn352=) | |
| MT | m.13390A>C | CA414817776 | MT-ND5 | c.1054A>C (p.Asn352His) | |
| MT | m.13390A>G | CA414817779 | MT-ND5 | c.1054A>G (p.Asn352Asp) | dbSNP |
| MT | m.13390A>T | CA414817778 | MT-ND5 | c.1054A>T (p.Asn352Tyr) | |
| MT | m.13391A= | CA2499567984 | MT-ND5 | c.1055A= (p.Asn352=) | |
| MT | m.13391A>C | CA414817781 | MT-ND5 | c.1055A>C (p.Asn352Thr) | |
| MT | m.13391A>G | CA414817783 | MT-ND5 | c.1055A>G (p.Asn352Ser) | ClinVar dbSNP |
| MT | m.13391A>T | CA414817784 | MT-ND5 | c.1055A>T (p.Asn352Ile) | |
| MT | m.13392T>A | CA414817787 | MT-ND5 | c.1056T>A (p.Asn352Lys) | |
| MT | m.13392T>C | CA337099673 | MT-ND5 | c.1056T>C (p.Asn352=) | dbSNP |
| MT | m.13392T>G | CA414817790 | MT-ND5 | c.1056T>G (p.Asn352Lys) | |
| MT | m.13392T= | CA2499567985 | MT-ND5 | c.1056T= (p.Asn352=) | |
| MT | m.13393G>A | CA414817792 | MT-ND5 | c.1057G>A (p.Glu353Lys) | |
| MT | m.13393G>C | CA414817793 | MT-ND5 | c.1057G>C (p.Glu353Gln) | |
| MT | m.13393G= | CA2573324226 | MT-ND5 | c.1057G= (p.Glu353=) | |
| MT | m.13393G>T | CA414817795 | MT-ND5 | c.1057G>T (p.Glu353Ter) | |
| MT | m.13394A= | CA2573324227 | MT-ND5 | c.1058A= (p.Glu353=) | |
| MT | m.13394A>C | CA414817800 | MT-ND5 | c.1058A>C (p.Glu353Ala) | |
| MT | m.13394A>G | CA414817802 | MT-ND5 | c.1058A>G (p.Glu353Gly) | |
| MT | m.13394A>T | CA414817798 | MT-ND5 | c.1058A>T (p.Glu353Val) | |
| MT | m.13395A= | CA2499567986 | MT-ND5 | c.1059A= (p.Glu353=) | |
| MT | m.13395A>C | CA337099674 | MT-ND5 | c.1059A>C (p.Glu353Asp) | |
| MT | m.13395A>G | CA337099675 | MT-ND5 | c.1059A>G (p.Glu353=) | dbSNP |
| MT | m.13395A>T | CA337099676 | MT-ND5 | c.1059A>T (p.Glu353Asp) | |
| MT | m.13396C>A | CA414817808 | MT-ND5 | c.1060C>A (p.Gln354Lys) | |
| MT | m.13396C= | CA2573324232 | MT-ND5 | c.1060C= (p.Gln354=) | |
| MT | m.13396C>G | CA414817810 | MT-ND5 | c.1060C>G (p.Gln354Glu) | |
| MT | m.13396C>T | CA414817812 | MT-ND5 | c.1060C>T (p.Gln354Ter) | |
| MT | m.13397A= | CA2573324233 | MT-ND5 | c.1061A= (p.Gln354=) | |
| MT | m.13397A>C | CA414817814 | MT-ND5 | c.1061A>C (p.Gln354Pro) | |
| MT | m.13397A>G | CA414817816 | MT-ND5 | c.1061A>G (p.Gln354Arg) | |
| MT | m.13397A>T | CA414817818 | MT-ND5 | c.1061A>T (p.Gln354Leu) | |
| MT | m.13398A= | CA2499567987 | MT-ND5 | c.1062A= (p.Gln354=) | |
| MT | m.13398A>C | CA414817820 | MT-ND5 | c.1062A>C (p.Gln354His) | |
| MT | m.13398A>G | CA913170938 | MT-ND5 | c.1062A>G (p.Gln354=) | dbSNP |
| MT | m.13398A>T | CA414817822 | MT-ND5 | c.1062A>T (p.Gln354His) | |
| MT | m.13399G>A | CA414817828 | MT-ND5 | c.1063G>A (p.Asp355Asn) | |
| MT | m.13399G>C | CA414817827 | MT-ND5 | c.1063G>C (p.Asp355His) | |
| MT | m.13399G= | CA2573324241 | MT-ND5 | c.1063G= (p.Asp355=) | |
| MT | m.13399G>T | CA414817824 | MT-ND5 | c.1063G>T (p.Asp355Tyr) | |
| MT | m.13400A= | CA2573324245 | MT-ND5 | c.1064A= (p.Asp355=) | |
| MT | m.13400A>C | CA414817831 | MT-ND5 | c.1064A>C (p.Asp355Ala) | |
| MT | m.13400A>G | CA414817832 | MT-ND5 | c.1064A>G (p.Asp355Gly) | |
| MT | m.13400A>T | CA414817834 | MT-ND5 | c.1064A>T (p.Asp355Val) | |
| MT | m.13401T>A | CA414817836 | MT-ND5 | c.1065T>A (p.Asp355Glu) | |
| MT | m.13401T>C | CA337099677 | MT-ND5 | c.1065T>C (p.Asp355=) | dbSNP |
| MT | m.13401T>G | CA414817838 | MT-ND5 | c.1065T>G (p.Asp355Glu) | |
| MT | m.13401T= | CA2499567988 | MT-ND5 | c.1065T= (p.Asp355=) | |
| MT | m.13402A= | CA2573324250 | MT-ND5 | c.1066A= (p.Ile356=) | |
| MT | m.13402A>C | CA414817840 | MT-ND5 | c.1066A>C (p.Ile356Leu) | |
| MT | m.13402A>G | CA414817842 | MT-ND5 | c.1066A>G (p.Ile356Val) | |
| MT | m.13402A>T | CA414817843 | MT-ND5 | c.1066A>T (p.Ile356Phe) | |
| MT | m.13403T>A | CA414817845 | MT-ND5 | c.1067T>A (p.Ile356Asn) | |
| MT | m.13403T>C | CA414817847 | MT-ND5 | c.1067T>C (p.Ile356Thr) | |
| MT | m.13403T>G | CA414817849 | MT-ND5 | c.1067T>G (p.Ile356Ser) | |
| MT | m.13403T= | CA2573324254 | MT-ND5 | c.1067T= (p.Ile356=) | |
| MT | m.13403_13406del | CA2573105285 | MT-ND5 | c.1067_1070del (p.Ile356LysfsTer3) | |
| MT | m.13404T>A | CA913170940 | MT-ND5 | c.1068T>A (p.Ile356=) | |
| MT | m.13404T>C | CA913170939 | MT-ND5 | c.1068T>C (p.Ile356=) | dbSNP |
| MT | m.13404T>G | CA414817851 | MT-ND5 | c.1068T>G (p.Ile356Met) | |
| MT | m.13404T= | CA2499567989 | MT-ND5 | c.1068T= (p.Ile356=) | |
| MT | m.13405C>A | CA913170941 | MT-ND5 | c.1069C>A (p.Arg357=) | |
| MT | m.13405C= | CA2573324257 | MT-ND5 | c.1069C= (p.Arg357=) | |
| MT | m.13405C>G | CA414817855 | MT-ND5 | c.1069C>G (p.Arg357Gly) | |
| MT | m.13405C>T | CA414817854 | MT-ND5 | c.1069C>T (p.Arg357Ter) | |
| MT | m.13406G>A | CA414817858 | MT-ND5 | c.1070G>A (p.Arg357Gln) | ClinVar dbSNP COSMIC |
| MT | m.13406G>C | CA414817861 | MT-ND5 | c.1070G>C (p.Arg357Pro) | |
| MT | m.13406G= | CA2499567990 | MT-ND5 | c.1070G= (p.Arg357=) | |
| MT | m.13406G>T | CA414817860 | MT-ND5 | c.1070G>T (p.Arg357Leu) | |
| MT | m.13407A= | CA2499567991 | MT-ND5 | c.1071A= (p.Arg357=) | |
| MT | m.13407A>C | CA913170943 | MT-ND5 | c.1071A>C (p.Arg357=) | |
| MT | m.13407A>G | CA337099678 | MT-ND5 | c.1071A>G (p.Arg357=) | dbSNP |
| MT | m.13407A>T | CA913170942 | MT-ND5 | c.1071A>T (p.Arg357=) | |
| MT | m.13408A= | CA2573324268 | MT-ND5 | c.1072A= (p.Lys358=) | |
| MT | m.13408A>C | CA414817869 | MT-ND5 | c.1072A>C (p.Lys358Gln) | |
| MT | m.13408A>G | CA414817865 | MT-ND5 | c.1072A>G (p.Lys358Glu) | |
| MT | m.13408A>T | CA414817868 | MT-ND5 | c.1072A>T (p.Lys358Ter) | |
| MT | m.13409A= | CA2573324272 | MT-ND5 | c.1073A= (p.Lys358=) | |
| MT | m.13409A>C | CA414817872 | MT-ND5 | c.1073A>C (p.Lys358Thr) | |
| MT | m.13409A>G | CA414817874 | MT-ND5 | c.1073A>G (p.Lys358Arg) | COSMIC |
| MT | m.13409A>T | CA414817876 | MT-ND5 | c.1073A>T (p.Lys358Ile) | |
| MT | m.13410A= | CA2573324278 | MT-ND5 | c.1074A= (p.Lys358=) | |
| MT | m.13410A>C | CA414817879 | MT-ND5 | c.1074A>C (p.Lys358Asn) | |
| MT | m.13410A>G | CA913170944 | MT-ND5 | c.1074A>G (p.Lys358=) | |
| MT | m.13410A>T | CA414817880 | MT-ND5 | c.1074A>T (p.Lys358Asn) | |
| MT | m.13411A= | CA2573324281 | MT-ND5 | c.1075A= (p.Ile359=) | |
| MT | m.13411A>C | CA414817882 | MT-ND5 | c.1075A>C (p.Ile359Leu) | |
| MT | m.13411A>G | CA414817884 | MT-ND5 | c.1075A>G (p.Ile359Val) | |
| MT | m.13411A>T | CA414817886 | MT-ND5 | c.1075A>T (p.Ile359Leu) | |
| MT | m.13412T>A | CA414817891 | MT-ND5 | c.1076T>A (p.Ile359Lys) | |
| MT | m.13412T>C | CA414817888 | MT-ND5 | c.1076T>C (p.Ile359Thr) | |
| MT | m.13412T>G | CA414817889 | MT-ND5 | c.1076T>G (p.Ile359Arg) | |
| MT | m.13412T= | CA2573324284 | MT-ND5 | c.1076T= (p.Ile359=) | |
| MT | m.13413A= | CA2499567992 | MT-ND5 | c.1077A= (p.Ile359=) | |
| MT | m.13413A>C | CA913170945 | MT-ND5 | c.1077A>C (p.Ile359=) | |
| MT | m.13413A>G | CA414817893 | MT-ND5 | c.1077A>G (p.Ile359Met) | dbSNP |
| MT | m.13413A>T | CA913170946 | MT-ND5 | c.1077A>T (p.Ile359=) | |
| MT | m.13414G>A | CA414817896 | MT-ND5 | c.1078G>A (p.Gly360Arg) | |
| MT | m.13414G>C | CA414817898 | MT-ND5 | c.1078G>C (p.Gly360Arg) | |
| MT | m.13414G= | CA2573324289 | MT-ND5 | c.1078G= (p.Gly360=) | |
| MT | m.13414G>T | CA414817899 | MT-ND5 | c.1078G>T (p.Gly360Ter) | |
| MT | m.13415G>A | CA414817902 | MT-ND5 | c.1079G>A (p.Gly360Glu) | ClinVar dbSNP |
| MT | m.13415G>C | CA414817903 | MT-ND5 | c.1079G>C (p.Gly360Ala) | |
| MT | m.13415G= | CA2499567993 | MT-ND5 | c.1079G= (p.Gly360=) | |
| MT | m.13415G>T | CA414817905 | MT-ND5 | c.1079G>T (p.Gly360Val) |