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.3556_3560del | CA2573104446 | MT-ND1 | c.250_254del (p.Leu84MetfsTer25) | |
| MT | m.3556C>A | CA414773024 | MT-ND1 | c.250C>A (p.Leu84Ile) | |
| MT | m.3556C= | CA2573327906 | MT-ND1 | c.250C= (p.Leu84=) | |
| MT | m.3556C>G | CA414773025 | MT-ND1 | c.250C>G (p.Leu84Val) | |
| MT | m.3556C>T | CA913169640 | MT-ND1 | c.250C>T (p.Leu84=) | |
| MT | m.3557T>A | CA414773026 | MT-ND1 | c.251T>A (p.Leu84Gln) | |
| MT | m.3557T>C | CA414773027 | MT-ND1 | c.251T>C (p.Leu84Pro) | |
| MT | m.3557T>G | CA414773028 | MT-ND1 | c.251T>G (p.Leu84Arg) | |
| MT | m.3557T= | CA2573327910 | MT-ND1 | c.251T= (p.Leu84=) | |
| MT | m.3558A= | CA2573327912 | MT-ND1 | c.252A= (p.Leu84=) | |
| MT | m.3558A>C | CA913169645 | MT-ND1 | c.252A>C (p.Leu84=) | |
| MT | m.3558A>G | CA913169650 | MT-ND1 | c.252A>G (p.Leu84=) | dbSNP |
| MT | m.3558A>T | CA913169648 | MT-ND1 | c.252A>T (p.Leu84=) | |
| MT | m.3559C>A | CA414773029 | MT-ND1 | c.253C>A (p.Leu85Ile) | |
| MT | m.3559C= | CA2499563494 | MT-ND1 | c.253C= (p.Leu85=) | |
| MT | m.3559C>G | CA414773030 | MT-ND1 | c.253C>G (p.Leu85Val) | |
| MT | m.3559C>T | CA913169651 | MT-ND1 | c.253C>T (p.Leu85=) | dbSNP |
| MT | m.3560T>A | CA414773031 | MT-ND1 | c.254T>A (p.Leu85Gln) | |
| MT | m.3560T>C | CA414773032 | MT-ND1 | c.254T>C (p.Leu85Pro) | |
| MT | m.3560T>G | CA414773033 | MT-ND1 | c.254T>G (p.Leu85Arg) | |
| MT | m.3560T= | CA2573327917 | MT-ND1 | c.254T= (p.Leu85=) | |
| MT | m.3561A= | CA2573327918 | MT-ND1 | c.255A= (p.Leu85=) | |
| MT | m.3561A>C | CA913169660 | MT-ND1 | c.255A>C (p.Leu85=) | |
| MT | m.3561A>G | CA913169659 | MT-ND1 | c.255A>G (p.Leu85=) | |
| MT | m.3561A>T | CA913169658 | MT-ND1 | c.255A>T (p.Leu85=) | |
| MT | m.3562T>A | CA414773034 | MT-ND1 | c.256T>A (p.Ter86Arg) | |
| MT | m.3562T>C | CA414773036 | MT-ND1 | c.256T>C (p.Ter86Arg) | |
| MT | m.3562T>G | CA414773037 | MT-ND1 | c.256T>G (p.Ter86Gly) | |
| MT | m.3562T= | CA414773035 | MT-ND1 | c.256T= (p.Ter86=) | |
| MT | m.3563G>A | CA414773041 | MT-ND1 | c.257G>A (p.Ter86=) | |
| MT | m.3563G>C | CA414773038 | MT-ND1 | c.257G>C (p.Ter86Ser) | |
| MT | m.3563G= | CA414773039 | MT-ND1 | c.257G= (p.Ter86=) | |
| MT | m.3563G>T | CA414773040 | MT-ND1 | c.257G>T (p.Ter86Leu) | |
| MT | m.3564A= | CA414773042 | MT-ND1 | c.258A= (p.Ter86=) | |
| MT | m.3564A>C | CA414773043 | MT-ND1 | c.258A>C (p.Ter86Cys) | |
| MT | m.3564A>G | CA414773044 | MT-ND1 | c.258A>G (p.Ter86Trp) | dbSNP |
| MT | m.3564A>T | CA414773045 | MT-ND1 | c.258A>T (p.Ter86Cys) | |
| MT | m.3565A= | CA913169665 | MT-ND1 | c.259A= (p.Thr87=) | |
| MT | m.3565A>C | CA414773046 | MT-ND1 | c.259A>C (p.Thr87Pro) | |
| MT | m.3565A>G | CA337096593 | MT-ND1 | c.259A>G (p.Thr87Ala) | ClinVar dbSNP |
| MT | m.3565A>T | CA414773047 | MT-ND1 | c.259A>T (p.Thr87Ser) | |
| MT | m.3565_3566delinsAC | CA2499563495 | MT-ND1 | c.259_260delinsAC (p.Thr87=) | |
| MT | m.3566C>A | CA414773048 | MT-ND1 | c.260C>A (p.Thr87Asn) | |
| MT | m.3566C= | CA2573327926 | MT-ND1 | c.260C= (p.Thr87=) | |
| MT | m.3566C>G | CA414773049 | MT-ND1 | c.260C>G (p.Thr87Ser) | |
| MT | m.3566C>T | CA414773050 | MT-ND1 | c.260C>T (p.Thr87Ile) | |
| MT | m.3571dup | CA920599313 | MT-ND1 | c.265dup (p.Leu89ProfsTer22) | dbSNP |
| MT | m.3571del | CA915952197 | MT-ND1 | c.265del (p.Leu89SerfsTer12) | ClinVar dbSNP |
| MT | m.3567C>A | CA913169674 | MT-ND1 | c.261C>A (p.Thr87=) | dbSNP |
| MT | m.3567C= | CA2499563496 | MT-ND1 | c.261C= (p.Thr87=) | |
| MT | m.3567C>G | CA913169682 | MT-ND1 | c.261C>G (p.Thr87=) | |
| MT | m.3567C>T | CA913169672 | MT-ND1 | c.261C>T (p.Thr87=) | dbSNP |
| MT | m.3568C>A | CA414773053 | MT-ND1 | c.262C>A (p.Pro88Thr) | |
| MT | m.3568C= | CA2499563497 | MT-ND1 | c.262C= (p.Pro88=) | |
| MT | m.3568C>G | CA414773051 | MT-ND1 | c.262C>G (p.Pro88Ala) | |
| MT | m.3568C>T | CA414773052 | MT-ND1 | c.262C>T (p.Pro88Ser) | dbSNP |
| MT | m.3569C>A | CA414773054 | MT-ND1 | c.263C>A (p.Pro88His) | |
| MT | m.3569C= | CA2499563498 | MT-ND1 | c.263C= (p.Pro88=) | |
| MT | m.3569C>G | CA414773055 | MT-ND1 | c.263C>G (p.Pro88Arg) | |
| MT | m.3569C>T | CA414773056 | MT-ND1 | c.263C>T (p.Pro88Leu) | ClinVar dbSNP |
| MT | m.3570C>A | CA913169686 | MT-ND1 | c.264C>A (p.Pro88=) | |
| MT | m.3570C= | CA2499563499 | MT-ND1 | c.264C= (p.Pro88=) | |
| MT | m.3570C>G | CA913169689 | MT-ND1 | c.264C>G (p.Pro88=) | |
| MT | m.3570C>T | CA913169687 | MT-ND1 | c.264C>T (p.Pro88=) | dbSNP |
| MT | m.3571C>A | CA414773057 | MT-ND1 | c.265C>A (p.Leu89Ile) | |
| MT | m.3571C= | CA2499563500 | MT-ND1 | c.265C= (p.Leu89=) | |
| MT | m.3571C>G | CA414773058 | MT-ND1 | c.265C>G (p.Leu89Val) | |
| MT | m.3571C>T | CA337096595 | MT-ND1 | c.265C>T (p.Leu89Phe) | ClinVar dbSNP |
| MT | m.3572T>A | CA414773059 | MT-ND1 | c.266T>A (p.Leu89His) | |
| MT | m.3572T>C | CA414773060 | MT-ND1 | c.266T>C (p.Leu89Pro) | |
| MT | m.3572T>G | CA414773061 | MT-ND1 | c.266T>G (p.Leu89Arg) | |
| MT | m.3572T= | CA2573327944 | MT-ND1 | c.266T= (p.Leu89=) | |
| MT | m.3573C>A | CA913169695 | MT-ND1 | c.267C>A (p.Leu89=) | dbSNP |
| MT | m.3573C= | CA2499563501 | MT-ND1 | c.267C= (p.Leu89=) | |
| MT | m.3573C>G | CA913169694 | MT-ND1 | c.267C>G (p.Leu89=) | |
| MT | m.3573C>T | CA913169693 | MT-ND1 | c.267C>T (p.Leu89=) | dbSNP |
| MT | m.3574C>A | CA414773062 | MT-ND1 | c.268C>A (p.Pro90Thr) | |
| MT | m.3574C= | CA2573327950 | MT-ND1 | c.268C= (p.Pro90=) | |
| MT | m.3574C>G | CA414773063 | MT-ND1 | c.268C>G (p.Pro90Ala) | |
| MT | m.3574C>T | CA414773064 | MT-ND1 | c.268C>T (p.Pro90Ser) | |
| MT | m.3575C>A | CA414773065 | MT-ND1 | c.269C>A (p.Pro90His) | |
| MT | m.3575C= | CA2573327952 | MT-ND1 | c.269C= (p.Pro90=) | |
| MT | m.3575C>G | CA414773067 | MT-ND1 | c.269C>G (p.Pro90Arg) | |
| MT | m.3575C>T | CA414773066 | MT-ND1 | c.269C>T (p.Pro90Leu) | |
| MT | m.3576C>A | CA913169697 | MT-ND1 | c.270C>A (p.Pro90=) | |
| MT | m.3576C= | CA2499563502 | MT-ND1 | c.270C= (p.Pro90=) | |
| MT | m.3576C>G | CA913169698 | MT-ND1 | c.270C>G (p.Pro90=) | |
| MT | m.3576C>T | CA913169699 | MT-ND1 | c.270C>T (p.Pro90=) | dbSNP |
| MT | m.3577A= | CA2573327957 | MT-ND1 | c.271A= (p.Ile91=) | |
| MT | m.3577A>C | CA414773068 | MT-ND1 | c.271A>C (p.Ile91Leu) | |
| MT | m.3577A>G | CA414773069 | MT-ND1 | c.271A>G (p.Ile91Val) | |
| MT | m.3577A>T | CA414773070 | MT-ND1 | c.271A>T (p.Ile91Leu) | |
| MT | m.3578T>A | CA414773071 | MT-ND1 | c.272T>A (p.Ile91Lys) | |
| MT | m.3578T>C | CA414773072 | MT-ND1 | c.272T>C (p.Ile91Thr) | dbSNP |
| MT | m.3578T>G | CA414773073 | MT-ND1 | c.272T>G (p.Ile91Arg) | |
| MT | m.3578T= | CA2499563503 | MT-ND1 | c.272T= (p.Ile91=) | |
| MT | m.3579A= | CA2499563504 | MT-ND1 | c.273A= (p.Ile91=) | |
| MT | m.3579A>C | CA913169709 | MT-ND1 | c.273A>C (p.Ile91=) | |
| MT | m.3579A>G | CA414773074 | MT-ND1 | c.273A>G (p.Ile91Met) | dbSNP |
| MT | m.3579A>T | CA913169710 | MT-ND1 | c.273A>T (p.Ile91=) | |
| MT | m.3580C>A | CA414773075 | MT-ND1 | c.274C>A (p.Pro92Thr) | |
| MT | m.3580C= | CA2573327967 | MT-ND1 | c.274C= (p.Pro92=) | |
| MT | m.3580C>G | CA414773076 | MT-ND1 | c.274C>G (p.Pro92Ala) | |
| MT | m.3580C>T | CA414773077 | MT-ND1 | c.274C>T (p.Pro92Ser) | |
| MT | m.3581C>A | CA414773078 | MT-ND1 | c.275C>A (p.Pro92His) | |
| MT | m.3581C= | CA2573327972 | MT-ND1 | c.275C= (p.Pro92=) | |
| MT | m.3581C>G | CA414773079 | MT-ND1 | c.275C>G (p.Pro92Arg) | |
| MT | m.3581C>T | CA414773080 | MT-ND1 | c.275C>T (p.Pro92Leu) | |
| MT | m.3582C>A | CA913169715 | MT-ND1 | c.276C>A (p.Pro92=) | |
| MT | m.3582C= | CA2499563505 | MT-ND1 | c.276C= (p.Pro92=) | |
| MT | m.3582C>G | CA913169717 | MT-ND1 | c.276C>G (p.Pro92=) | |
| MT | m.3582C>T | CA10581344 | MT-ND1 | c.276C>T (p.Pro92=) | ClinVar dbSNP |
| MT | m.3583A= | CA2573327981 | MT-ND1 | c.277A= (p.Asn93=) | |
| MT | m.3583A>C | CA414773081 | MT-ND1 | c.277A>C (p.Asn93His) | |
| MT | m.3583A>G | CA414773082 | MT-ND1 | c.277A>G (p.Asn93Asp) | |
| MT | m.3583A>T | CA414773083 | MT-ND1 | c.277A>T (p.Asn93Tyr) | |
| MT | m.3583_3584del | CA2573104447 | MT-ND1 | c.277_278del (p.Asn93ProfsTer17) | |
| MT | m.3584del | CA2740098097 | MT-ND1 | c.278del (p.Asn93ThrfsTer8) | |
| MT | m.3583_3584insCCTTTCCCTGC | CA2740098098 | MT-ND1 | c.277_278insCCTTTCCCTGC (p.Asn93ThrfsTer12) | |
| MT | m.3584A= | CA2573327983 | MT-ND1 | c.278A= (p.Asn93=) | |
| MT | m.3584A>C | CA414773084 | MT-ND1 | c.278A>C (p.Asn93Thr) | |
| MT | m.3584A>G | CA414773085 | MT-ND1 | c.278A>G (p.Asn93Ser) | dbSNP |
| MT | m.3584A>T | CA414773086 | MT-ND1 | c.278A>T (p.Asn93Ile) | |
| MT | m.3585C>A | CA414773087 | MT-ND1 | c.279C>A (p.Asn93Lys) | |
| MT | m.3585C= | CA2499563506 | MT-ND1 | c.279C= (p.Asn93=) | |
| MT | m.3585C>G | CA414773088 | MT-ND1 | c.279C>G (p.Asn93Lys) | |
| MT | m.3585C>T | CA913169724 | MT-ND1 | c.279C>T (p.Asn93=) | dbSNP |
| MT | m.3589dup | CA2573104448 | MT-ND1 | c.283dup (p.Leu95ProfsTer16) | |
| MT | m.3585_3586insACCTT | CA2740098099 | MT-ND1 | c.279_280insACCTT (p.Pro94ThrfsTer9) | |
| MT | m.3586C>A | CA414773089 | MT-ND1 | c.280C>A (p.Pro94Thr) | |
| MT | m.3586C= | CA2573327990 | MT-ND1 | c.280C= (p.Pro94=) | |
| MT | m.3586C>G | CA414773090 | MT-ND1 | c.280C>G (p.Pro94Ala) | |
| MT | m.3586C>T | CA414773091 | MT-ND1 | c.280C>T (p.Pro94Ser) | |
| MT | m.3587C>A | CA414773092 | MT-ND1 | c.281C>A (p.Pro94His) | |
| MT | m.3587C= | CA2573327992 | MT-ND1 | c.281C= (p.Pro94=) | |
| MT | m.3587C>G | CA414773094 | MT-ND1 | c.281C>G (p.Pro94Arg) | |
| MT | m.3587C>T | CA414773093 | MT-ND1 | c.281C>T (p.Pro94Leu) | |
| MT | m.3588C>A | CA913169737 | MT-ND1 | c.282C>A (p.Pro94=) | |
| MT | m.3588C= | CA2499563507 | MT-ND1 | c.282C= (p.Pro94=) | |
| MT | m.3588C>G | CA913169735 | MT-ND1 | c.282C>G (p.Pro94=) | |
| MT | m.3588C>T | CA337096598 | MT-ND1 | c.282C>T (p.Pro94=) | dbSNP |
| MT | m.3589C>A | CA414773096 | MT-ND1 | c.283C>A (p.Leu95Met) | |
| MT | m.3589C= | CA2499563508 | MT-ND1 | c.283C= (p.Leu95=) | |
| MT | m.3589C>G | CA414773095 | MT-ND1 | c.283C>G (p.Leu95Val) | |
| MT | m.3589C>T | CA337096600 | MT-ND1 | c.283C>T (p.Leu95=) | dbSNP |
| MT | m.3590del | CA2573104449 | MT-ND1 | c.284del (p.Leu95ArgfsTer6) | |
| MT | m.3590T>A | CA414773097 | MT-ND1 | c.284T>A (p.Leu95Gln) | |
| MT | m.3590T>C | CA414773098 | MT-ND1 | c.284T>C (p.Leu95Pro) | dbSNP |
| MT | m.3590T>G | CA414773099 | MT-ND1 | c.284T>G (p.Leu95Arg) | |
| MT | m.3590T= | CA2499563509 | MT-ND1 | c.284T= (p.Leu95=) | |
| MT | m.3591G>A | CA645608450 | MT-ND1 | c.285G>A (p.Leu95=) | dbSNP COSMIC COSMIC |
| MT | m.3591G>C | CA913169751 | MT-ND1 | c.285G>C (p.Leu95=) | |
| MT | m.3591G= | CA2499563510 | MT-ND1 | c.285G= (p.Leu95=) | |
| MT | m.3591G>T | CA913169755 | MT-ND1 | c.285G>T (p.Leu95=) | |
| MT | m.3592G>A | CA414773100 | MT-ND1 | c.286G>A (p.Val96Ile) | ClinVar dbSNP |
| MT | m.3592G>C | CA414773101 | MT-ND1 | c.286G>C (p.Val96Leu) | |
| MT | m.3592G= | CA2499563511 | MT-ND1 | c.286G= (p.Val96=) | |
| MT | m.3592G>T | CA414773102 | MT-ND1 | c.286G>T (p.Val96Phe) | |
| MT | m.3593T>A | CA414773103 | MT-ND1 | c.287T>A (p.Val96Asp) | |
| MT | m.3593T>C | CA337096602 | MT-ND1 | c.287T>C (p.Val96Ala) | ClinVar dbSNP |
| MT | m.3593T>G | CA414773104 | MT-ND1 | c.287T>G (p.Val96Gly) | |
| MT | m.3593T= | CA2499563512 | MT-ND1 | c.287T= (p.Val96=) | |
| MT | m.3594C>A | CA913169774 | MT-ND1 | c.288C>A (p.Val96=) | |
| MT | m.3594C= | CA2499563513 | MT-ND1 | c.288C= (p.Val96=) | |
| MT | m.3594C>G | CA913169772 | MT-ND1 | c.288C>G (p.Val96=) | |
| MT | m.3594C>T | CA337096604 | MT-ND1 | c.288C>T (p.Val96=) | dbSNP |
| MT | m.3595A= | CA2499563514 | MT-ND1 | c.289A= (p.Asn97=) | |
| MT | m.3595A>C | CA414773105 | MT-ND1 | c.289A>C (p.Asn97His) | |
| MT | m.3595A>G | CA414773106 | MT-ND1 | c.289A>G (p.Asn97Asp) | dbSNP |
| MT | m.3595A>T | CA414773107 | MT-ND1 | c.289A>T (p.Asn97Tyr) | |
| MT | m.3596A= | CA2573328013 | MT-ND1 | c.290A= (p.Asn97=) | |
| MT | m.3596A>C | CA414773108 | MT-ND1 | c.290A>C (p.Asn97Thr) | |
| MT | m.3596A>G | CA414773109 | MT-ND1 | c.290A>G (p.Asn97Ser) | |
| MT | m.3596A>T | CA414773110 | MT-ND1 | c.290A>T (p.Asn97Ile) | |
| MT | m.3597C>A | CA414773112 | MT-ND1 | c.291C>A (p.Asn97Lys) | |
| MT | m.3597C= | CA2573328018 | MT-ND1 | c.291C= (p.Asn97=) | |
| MT | m.3597C>G | CA414773113 | MT-ND1 | c.291C>G (p.Asn97Lys) | |
| MT | m.3597C>T | CA913169789 | MT-ND1 | c.291C>T (p.Asn97=) | |
| MT | m.3598C>A | CA414773114 | MT-ND1 | c.292C>A (p.Leu98Ile) | |
| MT | m.3598C= | CA2573328021 | MT-ND1 | c.292C= (p.Leu98=) | |
| MT | m.3598C>G | CA414773115 | MT-ND1 | c.292C>G (p.Leu98Val) | |
| MT | m.3598C>T | CA414773116 | MT-ND1 | c.292C>T (p.Leu98Phe) | |
| MT | m.3599T>A | CA414773118 | MT-ND1 | c.293T>A (p.Leu98His) | |
| MT | m.3599T>C | CA414773119 | MT-ND1 | c.293T>C (p.Leu98Pro) | |
| MT | m.3599T>G | CA414773117 | MT-ND1 | c.293T>G (p.Leu98Arg) | |
| MT | m.3599T= | CA2573328026 | MT-ND1 | c.293T= (p.Leu98=) | |
| MT | m.3600C>A | CA913169807 | MT-ND1 | c.294C>A (p.Leu98=) | dbSNP |
| MT | m.3600C= | CA2499563515 | MT-ND1 | c.294C= (p.Leu98=) | |
| MT | m.3600C>G | CA913169808 | MT-ND1 | c.294C>G (p.Leu98=) | |
| MT | m.3600C>T | CA913169809 | MT-ND1 | c.294C>T (p.Leu98=) | |
| MT | m.3601A= | CA2573328030 | MT-ND1 | c.295A= (p.Asn99=) | |
| MT | m.3601A>C | CA414773120 | MT-ND1 | c.295A>C (p.Asn99His) | |
| MT | m.3601A>G | CA414773121 | MT-ND1 | c.295A>G (p.Asn99Asp) | |
| MT | m.3601A>T | CA414773122 | MT-ND1 | c.295A>T (p.Asn99Tyr) | |
| MT | m.3602A= | CA2573328034 | MT-ND1 | c.296A= (p.Asn99=) | |
| MT | m.3602A>C | CA414773123 | MT-ND1 | c.296A>C (p.Asn99Thr) | |
| MT | m.3602A>G | CA414773124 | MT-ND1 | c.296A>G (p.Asn99Ser) | dbSNP |
| MT | m.3602A>T | CA414773125 | MT-ND1 | c.296A>T (p.Asn99Ile) | |
| MT | m.3603C>A | CA414773126 | MT-ND1 | c.297C>A (p.Asn99Lys) | |
| MT | m.3603C= | CA2499563516 | MT-ND1 | c.297C= (p.Asn99=) | |
| MT | m.3603C>G | CA414773127 | MT-ND1 | c.297C>G (p.Asn99Lys) | |
| MT | m.3603C>T | CA913169812 | MT-ND1 | c.297C>T (p.Asn99=) | dbSNP |
| MT | m.3604C>A | CA414773128 | MT-ND1 | c.298C>A (p.Leu100Ile) | dbSNP |
| MT | m.3604C= | CA2499563517 | MT-ND1 | c.298C= (p.Leu100=) | |
| MT | m.3604C>G | CA337096606 | MT-ND1 | c.298C>G (p.Leu100Val) | dbSNP |
| MT | m.3604C>T | CA913169816 | MT-ND1 | c.298C>T (p.Leu100=) | |
| MT | m.3605T>A | CA414773131 | MT-ND1 | c.299T>A (p.Leu100Gln) | |
| MT | m.3605T>C | CA414773130 | MT-ND1 | c.299T>C (p.Leu100Pro) | |
| MT | m.3605T>G | CA414773129 | MT-ND1 | c.299T>G (p.Leu100Arg) | |
| MT | m.3605T= | CA2573328043 | MT-ND1 | c.299T= (p.Leu100=) | |
| MT | m.3606A= | CA2499563518 | MT-ND1 | c.300A= (p.Leu100=) | |
| MT | m.3606A>C | CA913169820 | MT-ND1 | c.300A>C (p.Leu100=) | |
| MT | m.3606A>G | CA337096608 | MT-ND1 | c.300A>G (p.Leu100=) | dbSNP |
| MT | m.3606A>T | CA913169818 | MT-ND1 | c.300A>T (p.Leu100=) | |
| MT | m.3607G>A | CA414773132 | MT-ND1 | c.301G>A (p.Gly101Ser) | ClinVar dbSNP |
| MT | m.3607G>C | CA414773133 | MT-ND1 | c.301G>C (p.Gly101Arg) | |
| MT | m.3607G= | CA2499563519 | MT-ND1 | c.301G= (p.Gly101=) | |
| MT | m.3607G>T | CA414773134 | MT-ND1 | c.301G>T (p.Gly101Cys) | |
| MT | m.3608G>A | CA414773135 | MT-ND1 | c.302G>A (p.Gly101Asp) | |
| MT | m.3608G>C | CA414773136 | MT-ND1 | c.302G>C (p.Gly101Ala) | |
| MT | m.3608G= | CA2573328051 | MT-ND1 | c.302G= (p.Gly101=) | |
| MT | m.3608G>T | CA414773137 | MT-ND1 | c.302G>T (p.Gly101Val) | |
| MT | m.3609C>A | CA913169828 | MT-ND1 | c.303C>A (p.Gly101=) | |
| MT | m.3609C= | CA2499563520 | MT-ND1 | c.303C= (p.Gly101=) | |
| MT | m.3609C>G | CA913169825 | MT-ND1 | c.303C>G (p.Gly101=) | |
| MT | m.3609C>T | CA645608451 | MT-ND1 | c.303C>T (p.Gly101=) | dbSNP COSMIC COSMIC |
| MT | m.3610C>A | CA414773138 | MT-ND1 | c.304C>A (p.Leu102Ile) | |
| MT | m.3610C= | CA2573328056 | MT-ND1 | c.304C= (p.Leu102=) | |
| MT | m.3610C>G | CA414773139 | MT-ND1 | c.304C>G (p.Leu102Val) | |
| MT | m.3610C>T | CA414773140 | MT-ND1 | c.304C>T (p.Leu102Phe) | |
| MT | m.3611T>A | CA414773141 | MT-ND1 | c.305T>A (p.Leu102His) | |
| MT | m.3611T>C | CA414773142 | MT-ND1 | c.305T>C (p.Leu102Pro) | |
| MT | m.3611T>G | CA414773143 | MT-ND1 | c.305T>G (p.Leu102Arg) | |
| MT | m.3611T= | CA2573328060 | MT-ND1 | c.305T= (p.Leu102=) | |
| MT | m.3612C>A | CA913169830 | MT-ND1 | c.306C>A (p.Leu102=) | |
| MT | m.3612C= | CA2499563521 | MT-ND1 | c.306C= (p.Leu102=) | |
| MT | m.3612C>G | CA913169837 | MT-ND1 | c.306C>G (p.Leu102=) | |
| MT | m.3612C>T | CA913169839 | MT-ND1 | c.306C>T (p.Leu102=) | dbSNP |
| MT | m.3613C>A | CA414773144 | MT-ND1 | c.307C>A (p.Leu103Ile) | |
| MT | m.3613C= | CA2499563522 | MT-ND1 | c.307C= (p.Leu103=) | |
| MT | m.3613C>G | CA337096610 | MT-ND1 | c.307C>G (p.Leu103Val) | dbSNP |
| MT | m.3613C>T | CA913169840 | MT-ND1 | c.307C>T (p.Leu103=) | dbSNP |
| MT | m.3614T>A | CA414773145 | MT-ND1 | c.308T>A (p.Leu103Gln) | |
| MT | m.3614T>C | CA414773146 | MT-ND1 | c.308T>C (p.Leu103Pro) | |
| MT | m.3614T>G | CA414773147 | MT-ND1 | c.308T>G (p.Leu103Arg) | |
| MT | m.3614T= | CA2573328065 | MT-ND1 | c.308T= (p.Leu103=) | |
| MT | m.3615A= | CA2573328068 | MT-ND1 | c.309A= (p.Leu103=) | |
| MT | m.3615A>C | CA913169851 | MT-ND1 | c.309A>C (p.Leu103=) | |
| MT | m.3615A>G | CA913169852 | MT-ND1 | c.309A>G (p.Leu103=) | dbSNP |
| MT | m.3615A>T | CA913169853 | MT-ND1 | c.309A>T (p.Leu103=) | |
| MT | m.3616T>A | CA414773148 | MT-ND1 | c.310T>A (p.Phe104Ile) | |
| MT | m.3616T>C | CA414773149 | MT-ND1 | c.310T>C (p.Phe104Leu) | |
| MT | m.3616T>G | CA414773150 | MT-ND1 | c.310T>G (p.Phe104Val) | |
| MT | m.3616T= | CA2573328071 | MT-ND1 | c.310T= (p.Phe104=) | |
| MT | m.3617T>A | CA414773153 | MT-ND1 | c.311T>A (p.Phe104Tyr) | |
| MT | m.3617T>C | CA414773151 | MT-ND1 | c.311T>C (p.Phe104Ser) | |
| MT | m.3617T>G | CA414773152 | MT-ND1 | c.311T>G (p.Phe104Cys) | |
| MT | m.3617T= | CA2573328075 | MT-ND1 | c.311T= (p.Phe104=) | |
| MT | m.3618T>A | CA414773154 | MT-ND1 | c.312T>A (p.Phe104Leu) | |
| MT | m.3618T>C | CA913169865 | MT-ND1 | c.312T>C (p.Phe104=) | dbSNP |
| MT | m.3618T>G | CA414773155 | MT-ND1 | c.312T>G (p.Phe104Leu) | |
| MT | m.3618T= | CA2499563523 | MT-ND1 | c.312T= (p.Phe104=) | |
| MT | m.3619A= | CA2573328079 | MT-ND1 | c.313A= (p.Ile105=) | |
| MT | m.3619A>C | CA414773156 | MT-ND1 | c.313A>C (p.Ile105Leu) | |
| MT | m.3619A>G | CA414773157 | MT-ND1 | c.313A>G (p.Ile105Val) | |
| MT | m.3619A>T | CA414773158 | MT-ND1 | c.313A>T (p.Ile105Phe) | |
| MT | m.3620T>A | CA414773159 | MT-ND1 | c.314T>A (p.Ile105Asn) | |
| MT | m.3620T>C | CA414773161 | MT-ND1 | c.314T>C (p.Ile105Thr) | |
| MT | m.3620T>G | CA414773160 | MT-ND1 | c.314T>G (p.Ile105Ser) | |
| MT | m.3620T= | CA2573328085 | MT-ND1 | c.314T= (p.Ile105=) | |
| MT | m.3621T>A | CA913169870 | MT-ND1 | c.315T>A (p.Ile105=) | |
| MT | m.3621T>C | CA337096612 | MT-ND1 | c.315T>C (p.Ile105=) | dbSNP |
| MT | m.3621T>G | CA414773162 | MT-ND1 | c.315T>G (p.Ile105Met) | |
| MT | m.3621T= | CA2499563524 | MT-ND1 | c.315T= (p.Ile105=) | |
| MT | m.3628_3637del | CA2573104450 | MT-ND1 | c.322_331del (p.Thr108Ter) | |
| MT | m.3622C>A | CA414773163 | MT-ND1 | c.316C>A (p.Leu106Ile) | ClinVar dbSNP |
| MT | m.3622C= | CA2499563525 | MT-ND1 | c.316C= (p.Leu106=) | |
| MT | m.3622C>G | CA414773164 | MT-ND1 | c.316C>G (p.Leu106Val) | |
| MT | m.3622C>T | CA913169876 | MT-ND1 | c.316C>T (p.Leu106=) | |
| MT | m.3623T>A | CA414773165 | MT-ND1 | c.317T>A (p.Leu106Gln) | |
| MT | m.3623T>C | CA414773166 | MT-ND1 | c.317T>C (p.Leu106Pro) | |
| MT | m.3623T>G | CA414773167 | MT-ND1 | c.317T>G (p.Leu106Arg) | |
| MT | m.3623T= | CA2573328096 | MT-ND1 | c.317T= (p.Leu106=) | |
| MT | m.3624A= | CA2499563526 | MT-ND1 | c.318A= (p.Leu106=) | |
| MT | m.3624A>C | CA913169883 | MT-ND1 | c.318A>C (p.Leu106=) | |
| MT | m.3624A>G | CA16040646 | MT-ND1 | c.318A>G (p.Leu106=) | ClinVar dbSNP |
| MT | m.3624A>T | CA913169882 | MT-ND1 | c.318A>T (p.Leu106=) | |
| MT | m.3625G>A | CA414773168 | MT-ND1 | c.319G>A (p.Ala107Thr) | |
| MT | m.3625G>C | CA414773169 | MT-ND1 | c.319G>C (p.Ala107Pro) | |
| MT | m.3625G= | CA2573328097 | MT-ND1 | c.319G= (p.Ala107=) | |
| MT | m.3625G>T | CA414773170 | MT-ND1 | c.319G>T (p.Ala107Ser) | |
| MT | m.3626C>A | CA414773173 | MT-ND1 | c.320C>A (p.Ala107Asp) | |
| MT | m.3626C= | CA2573328100 | MT-ND1 | c.320C= (p.Ala107=) | |
| MT | m.3626C>G | CA414773171 | MT-ND1 | c.320C>G (p.Ala107Gly) | |
| MT | m.3626C>T | CA414773172 | MT-ND1 | c.320C>T (p.Ala107Val) | |
| MT | m.3627C>A | CA913169916 | MT-ND1 | c.321C>A (p.Ala107=) | |
| MT | m.3627C= | CA2573328101 | MT-ND1 | c.321C= (p.Ala107=) | |
| MT | m.3627C>G | CA913169912 | MT-ND1 | c.321C>G (p.Ala107=) | |
| MT | m.3627C>T | CA913169910 | MT-ND1 | c.321C>T (p.Ala107=) | |
| MT | m.3628A= | CA2499563527 | MT-ND1 | c.322A= (p.Thr108=) | |
| MT | m.3628A>C | CA414773174 | MT-ND1 | c.322A>C (p.Thr108Pro) | |
| MT | m.3628A>G | CA414773175 | MT-ND1 | c.322A>G (p.Thr108Ala) | dbSNP |
| MT | m.3628A>T | CA414773176 | MT-ND1 | c.322A>T (p.Thr108Ser) | ClinVar dbSNP |
| MT | m.3629C>A | CA414773177 | MT-ND1 | c.323C>A (p.Thr108Asn) | |
| MT | m.3629C= | CA2573328109 | MT-ND1 | c.323C= (p.Thr108=) | |
| MT | m.3629C>G | CA414773178 | MT-ND1 | c.323C>G (p.Thr108Ser) | |
| MT | m.3629C>T | CA414773179 | MT-ND1 | c.323C>T (p.Thr108Ile) | |
| MT | m.3630C>A | CA913169923 | MT-ND1 | c.324C>A (p.Thr108=) | |
| MT | m.3630C= | CA2499563528 | MT-ND1 | c.324C= (p.Thr108=) | |
| MT | m.3630C>G | CA913169922 | MT-ND1 | c.324C>G (p.Thr108=) | |
| MT | m.3630C>T | CA913169924 | MT-ND1 | c.324C>T (p.Thr108=) | dbSNP |
| MT | m.3631T>A | CA414773180 | MT-ND1 | c.325T>A (p.Ser109Thr) | |
| MT | m.3631T>C | CA414773181 | MT-ND1 | c.325T>C (p.Ser109Pro) | dbSNP |
| MT | m.3631T>G | CA414773182 | MT-ND1 | c.325T>G (p.Ser109Ala) | |
| MT | m.3631T= | CA2499563529 | MT-ND1 | c.325T= (p.Ser109=) | |
| MT | m.3632C>A | CA414773183 | MT-ND1 | c.326C>A (p.Ser109Tyr) | |
| MT | m.3632C= | CA2573328112 | MT-ND1 | c.326C= (p.Ser109=) | |
| MT | m.3632C>G | CA414773184 | MT-ND1 | c.326C>G (p.Ser109Cys) | |
| MT | m.3632C>T | CA414773185 | MT-ND1 | c.326C>T (p.Ser109Phe) | |
| MT | m.3633T>A | CA913169928 | MT-ND1 | c.327T>A (p.Ser109=) | |
| MT | m.3633T>C | CA913169927 | MT-ND1 | c.327T>C (p.Ser109=) | dbSNP |
| MT | m.3633T>G | CA913169926 | MT-ND1 | c.327T>G (p.Ser109=) | |
| MT | m.3633T= | CA2499563530 | MT-ND1 | c.327T= (p.Ser109=) | |
| MT | m.3634A= | CA2499563531 | MT-ND1 | c.328A= (p.Ser110=) | |
| MT | m.3634A>C | CA414773187 | MT-ND1 | c.328A>C (p.Ser110Arg) | |
| MT | m.3634A>G | CA337096615 | MT-ND1 | c.328A>G (p.Ser110Gly) | dbSNP |
| MT | m.3634A>T | CA414773186 | MT-ND1 | c.328A>T (p.Ser110Cys) | |
| MT | m.3635G>A | CA344827 | MT-ND1 | c.329G>A (p.Ser110Asn) | ClinVar dbSNP |
| MT | m.3635G>C | CA414773188 | MT-ND1 | c.329G>C (p.Ser110Thr) | |
| MT | m.3635G= | CA2499563532 | MT-ND1 | c.329G= (p.Ser110=) | |
| MT | m.3635G>T | CA414773189 | MT-ND1 | c.329G>T (p.Ser110Ile) | |
| MT | m.3636C>A | CA414773190 | MT-ND1 | c.330C>A (p.Ser110Arg) | |
| MT | m.3636C= | CA2499563533 | MT-ND1 | c.330C= (p.Ser110=) | |
| MT | m.3636C>G | CA414773191 | MT-ND1 | c.330C>G (p.Ser110Arg) | |
| MT | m.3636C>T | CA913169941 | MT-ND1 | c.330C>T (p.Ser110=) | dbSNP |
| MT | m.3637C>A | CA414773192 | MT-ND1 | c.331C>A (p.Leu111Ile) | |
| MT | m.3637C= | CA2499563534 | MT-ND1 | c.331C= (p.Leu111=) | |
| MT | m.3637C>G | CA414773193 | MT-ND1 | c.331C>G (p.Leu111Val) | |
| MT | m.3637C>T | CA337096618 | MT-ND1 | c.331C>T (p.Leu111=) | dbSNP |
| MT | m.3638T>A | CA414773194 | MT-ND1 | c.332T>A (p.Leu111Gln) | |
| MT | m.3638T>C | CA414773195 | MT-ND1 | c.332T>C (p.Leu111Pro) | |
| MT | m.3638T>G | CA414773196 | MT-ND1 | c.332T>G (p.Leu111Arg) | |
| MT | m.3638T= | CA2573328127 | MT-ND1 | c.332T= (p.Leu111=) | |
| MT | m.3639A= | CA2499563535 | MT-ND1 | c.333A= (p.Leu111=) | |
| MT | m.3639A>C | CA913169948 | MT-ND1 | c.333A>C (p.Leu111=) | |
| MT | m.3639A>G | CA913169949 | MT-ND1 | c.333A>G (p.Leu111=) | dbSNP |
| MT | m.3639A>T | CA913169947 | MT-ND1 | c.333A>T (p.Leu111=) | |
| MT | m.3640G>A | CA414773197 | MT-ND1 | c.334G>A (p.Ala112Thr) | ClinVar dbSNP |
| MT | m.3640G>C | CA414773199 | MT-ND1 | c.334G>C (p.Ala112Pro) | |
| MT | m.3640G= | CA2499563536 | MT-ND1 | c.334G= (p.Ala112=) | |
| MT | m.3640G>T | CA414773198 | MT-ND1 | c.334G>T (p.Ala112Ser) | |
| MT | m.3641C>A | CA414773200 | MT-ND1 | c.335C>A (p.Ala112Asp) | |
| MT | m.3641C= | CA2573328142 | MT-ND1 | c.335C= (p.Ala112=) | |
| MT | m.3641C>G | CA414773201 | MT-ND1 | c.335C>G (p.Ala112Gly) | |
| MT | m.3641C>T | CA414773202 | MT-ND1 | c.335C>T (p.Ala112Val) | |
| MT | m.3642C>A | CA913169966 | MT-ND1 | c.336C>A (p.Ala112=) | |
| MT | m.3642C= | CA2573328145 | MT-ND1 | c.336C= (p.Ala112=) | |
| MT | m.3642C>G | CA913169967 | MT-ND1 | c.336C>G (p.Ala112=) | |
| MT | m.3642C>T | CA913169968 | MT-ND1 | c.336C>T (p.Ala112=) | |
| MT | m.3643G>A | CA414773203 | MT-ND1 | c.337G>A (p.Val113Ile) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.3643G>C | CA414773204 | MT-ND1 | c.337G>C (p.Val113Leu) | |
| MT | m.3643G= | CA2499563537 | MT-ND1 | c.337G= (p.Val113=) | |
| MT | m.3643G>T | CA414773205 | MT-ND1 | c.337G>T (p.Val113Phe) | |
| MT | m.3644T>A | CA414773206 | MT-ND1 | c.338T>A (p.Val113Asp) | |
| MT | m.3644T>C | CA337096620 | MT-ND1 | c.338T>C (p.Val113Ala) | ClinVar dbSNP |
| MT | m.3644T>G | CA414773207 | MT-ND1 | c.338T>G (p.Val113Gly) | |
| MT | m.3644T= | CA2499563538 | MT-ND1 | c.338T= (p.Val113=) | |
| MT | m.3645T>A | CA913169981 | MT-ND1 | c.339T>A (p.Val113=) | |
| MT | m.3645T>C | CA337096622 | MT-ND1 | c.339T>C (p.Val113=) | dbSNP |
| MT | m.3645T>G | CA913169982 | MT-ND1 | c.339T>G (p.Val113=) | |
| MT | m.3645T= | CA2499563539 | MT-ND1 | c.339T= (p.Val113=) | |
| MT | m.3646T>A | CA414773208 | MT-ND1 | c.340T>A (p.Tyr114Asn) | |
| MT | m.3646T>C | CA337096624 | MT-ND1 | c.340T>C (p.Tyr114His) | dbSNP |
| MT | m.3646T>G | CA414773209 | MT-ND1 | c.340T>G (p.Tyr114Asp) | |
| MT | m.3646T= | CA2499563540 | MT-ND1 | c.340T= (p.Tyr114=) | |
| MT | m.3647A= | CA2573328166 | MT-ND1 | c.341A= (p.Tyr114=) | |
| MT | m.3647A>C | CA414773212 | MT-ND1 | c.341A>C (p.Tyr114Ser) | |
| MT | m.3647A>G | CA414773210 | MT-ND1 | c.341A>G (p.Tyr114Cys) | |
| MT | m.3647A>T | CA414773211 | MT-ND1 | c.341A>T (p.Tyr114Phe) | |
| MT | m.3648C>A | CA414773213 | MT-ND1 | c.342C>A (p.Tyr114Ter) | |
| MT | m.3648C= | CA2499563541 | MT-ND1 | c.342C= (p.Tyr114=) | |
| MT | m.3648C>G | CA414773214 | MT-ND1 | c.342C>G (p.Tyr114Ter) | |
| MT | m.3648C>T | CA913169987 | MT-ND1 | c.342C>T (p.Tyr114=) | dbSNP |
| MT | m.3649T>A | CA414773215 | MT-ND1 | c.343T>A (p.Ser115Thr) | |
| MT | m.3649T>C | CA414773216 | MT-ND1 | c.343T>C (p.Ser115Pro) | |
| MT | m.3649T>G | CA414773217 | MT-ND1 | c.343T>G (p.Ser115Ala) | |
| MT | m.3649T= | CA2573328174 | MT-ND1 | c.343T= (p.Ser115=) | |
| MT | m.3650C>A | CA414773218 | MT-ND1 | c.344C>A (p.Ser115Ter) | |
| MT | m.3650C= | CA2573328176 | MT-ND1 | c.344C= (p.Ser115=) | |
| MT | m.3650C>G | CA414773219 | MT-ND1 | c.344C>G (p.Ser115Ter) | |
| MT | m.3650C>T | CA414773220 | MT-ND1 | c.344C>T (p.Ser115Leu) | |
| MT | m.3651A= | CA2573328181 | MT-ND1 | c.345A= (p.Ser115=) | |
| MT | m.3651A>C | CA913170008 | MT-ND1 | c.345A>C (p.Ser115=) | |
| MT | m.3651A>G | CA913170003 | MT-ND1 | c.345A>G (p.Ser115=) | |
| MT | m.3651A>T | CA913170001 | MT-ND1 | c.345A>T (p.Ser115=) | |
| MT | m.3652A= | CA2499563542 | MT-ND1 | c.346A= (p.Ile116=) | |
| MT | m.3652A>C | CA414773221 | MT-ND1 | c.346A>C (p.Ile116Leu) | |
| MT | m.3652A>G | CA414773222 | MT-ND1 | c.346A>G (p.Ile116Val) | ClinVar dbSNP |
| MT | m.3652A>T | CA414773223 | MT-ND1 | c.346A>T (p.Ile116Phe) | |
| MT | m.3653T>A | CA414773224 | MT-ND1 | c.347T>A (p.Ile116Asn) | |
| MT | m.3653T>C | CA414773226 | MT-ND1 | c.347T>C (p.Ile116Thr) | ClinVar dbSNP |
| MT | m.3653T>G | CA414773225 | MT-ND1 | c.347T>G (p.Ile116Ser) | |
| MT | m.3653T= | CA2499563543 | MT-ND1 | c.347T= (p.Ile116=) | |
| MT | m.3654C>A | CA913170018 | MT-ND1 | c.348C>A (p.Ile116=) | |
| MT | m.3654C= | CA2499563544 | MT-ND1 | c.348C= (p.Ile116=) | |
| MT | m.3654C>G | CA414773227 | MT-ND1 | c.348C>G (p.Ile116Met) | |
| MT | m.3654C>T | CA913170019 | MT-ND1 | c.348C>T (p.Ile116=) | dbSNP |
| MT | m.3655C>A | CA414773228 | MT-ND1 | c.349C>A (p.Leu117Ile) | |
| MT | m.3655C= | CA2573328191 | MT-ND1 | c.349C= (p.Leu117=) | |
| MT | m.3655C>G | CA414773229 | MT-ND1 | c.349C>G (p.Leu117Val) | |
| MT | m.3655C>T | CA414773230 | MT-ND1 | c.349C>T (p.Leu117Phe) | |
| MT | m.3656T>A | CA414773231 | MT-ND1 | c.350T>A (p.Leu117His) | |
| MT | m.3656T>C | CA414773232 | MT-ND1 | c.350T>C (p.Leu117Pro) | |
| MT | m.3656T>G | CA414773233 | MT-ND1 | c.350T>G (p.Leu117Arg) | |
| MT | m.3656T= | CA2573328194 | MT-ND1 | c.350T= (p.Leu117=) |