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.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.10489A= | CA2499566767 | MT-ND4L | c.20A= (p.Asn7=) | |
| MT | m.10489A>C | CA414805542 | MT-ND4L | c.20A>C (p.Asn7Thr) | |
| MT | m.10489A>G | CA414805538 | MT-ND4L | c.20A>G (p.Asn7Ser) | ClinVar dbSNP |
| MT | m.10489A>T | CA414805540 | MT-ND4L | c.20A>T (p.Asn7Ile) | |
| MT | m.10490T>A | CA414805544 | MT-ND4L | c.21T>A (p.Asn7Lys) | |
| MT | m.10490T>C | CA913163531 | MT-ND4L | c.21T>C (p.Asn7=) | dbSNP |
| MT | m.10490T>G | CA414805546 | MT-ND4L | c.21T>G (p.Asn7Lys) | |
| MT | m.10490T= | CA2499566768 | MT-ND4L | c.21T= (p.Asn7=) | |
| MT | m.10491A= | CA2573326133 | MT-ND4L | c.22A= (p.Ile8=) | |
| MT | m.10491A>C | CA414805548 | MT-ND4L | c.22A>C (p.Ile8Leu) | |
| MT | m.10491A>G | CA414805550 | MT-ND4L | c.22A>G (p.Ile8Val) | ClinVar dbSNP |
| MT | m.10491A>T | CA414805552 | MT-ND4L | c.22A>T (p.Ile8Phe) | |
| MT | m.10492T>A | CA414805554 | MT-ND4L | c.23T>A (p.Ile8Asn) | |
| MT | m.10492T>C | CA414805556 | MT-ND4L | c.23T>C (p.Ile8Thr) | ClinVar dbSNP |
| MT | m.10492T>G | CA414805558 | MT-ND4L | c.23T>G (p.Ile8Ser) | |
| MT | m.10492T= | CA2499566769 | MT-ND4L | c.23T= (p.Ile8=) | |
| MT | m.10493T>A | CA913163552 | MT-ND4L | c.24T>A (p.Ile8=) | |
| MT | m.10493T>C | CA645611406 | MT-ND4L | c.24T>C (p.Ile8=) | dbSNP COSMIC |
| MT | m.10493T>G | CA414805560 | MT-ND4L | c.24T>G (p.Ile8Met) | |
| MT | m.10493T= | CA2499566770 | MT-ND4L | c.24T= (p.Ile8=) | |
| MT | m.10494A= | CA2573326142 | MT-ND4L | c.25A= (p.Ile9=) | |
| MT | m.10494A>C | CA414805566 | MT-ND4L | c.25A>C (p.Ile9Leu) | |
| MT | m.10494A>G | CA414805564 | MT-ND4L | c.25A>G (p.Ile9Val) | |
| MT | m.10494A>T | CA414805562 | MT-ND4L | c.25A>T (p.Ile9Leu) | |
| MT | m.10495T>A | CA414805568 | MT-ND4L | c.26T>A (p.Ile9Lys) | |
| MT | m.10495T>C | CA414805570 | MT-ND4L | c.26T>C (p.Ile9Thr) | dbSNP |
| MT | m.10495T>G | CA414805571 | MT-ND4L | c.26T>G (p.Ile9Arg) | |
| MT | m.10495T= | CA2499566771 | MT-ND4L | c.26T= (p.Ile9=) | |
| MT | m.10496A= | CA2499566772 | MT-ND4L | c.27A= (p.Ile9=) | |
| MT | m.10496A>C | CA913163568 | MT-ND4L | c.27A>C (p.Ile9=) | |
| MT | m.10496A>G | CA414805574 | MT-ND4L | c.27A>G (p.Ile9Met) | dbSNP |
| MT | m.10496A>T | CA913163567 | MT-ND4L | c.27A>T (p.Ile9=) | |
| MT | m.10497C>A | CA414805576 | MT-ND4L | c.28C>A (p.Leu10Ile) | dbSNP |
| MT | m.10497C= | CA2499566773 | MT-ND4L | c.28C= (p.Leu10=) | |
| MT | m.10497C>G | CA414805577 | MT-ND4L | c.28C>G (p.Leu10Val) | |
| MT | m.10497C>T | CA913163572 | MT-ND4L | c.28C>T (p.Leu10=) | dbSNP |
| MT | m.10498T>A | CA414805580 | MT-ND4L | c.29T>A (p.Leu10Gln) | |
| MT | m.10498T>C | CA414805581 | MT-ND4L | c.29T>C (p.Leu10Pro) | |
| MT | m.10498T>G | CA414805583 | MT-ND4L | c.29T>G (p.Leu10Arg) | |
| MT | m.10498T= | CA2573326151 | MT-ND4L | c.29T= (p.Leu10=) | |
| MT | m.10499A= | CA2499566774 | MT-ND4L | c.30A= (p.Leu10=) | |
| MT | m.10499A>C | CA913163581 | MT-ND4L | c.30A>C (p.Leu10=) | |
| MT | m.10499A>G | CA16603191 | MT-ND4L | c.30A>G (p.Leu10=) | ClinVar dbSNP |
| MT | m.10499A>T | CA913163582 | MT-ND4L | c.30A>T (p.Leu10=) | |
| MT | m.10500G>A | CA414805586 | MT-ND4L | c.31G>A (p.Ala11Thr) | dbSNP |
| MT | m.10500G>C | CA414805587 | MT-ND4L | c.31G>C (p.Ala11Pro) | |
| MT | m.10500G= | CA2499566775 | MT-ND4L | c.31G= (p.Ala11=) | |
| MT | m.10500G>T | CA414805589 | MT-ND4L | c.31G>T (p.Ala11Ser) | |
| MT | m.10501C>A | CA414805593 | MT-ND4L | c.32C>A (p.Ala11Glu) | |
| MT | m.10501C= | CA2573326159 | MT-ND4L | c.32C= (p.Ala11=) | |
| MT | m.10501C>G | CA414805596 | MT-ND4L | c.32C>G (p.Ala11Gly) | |
| MT | m.10501C>T | CA414805592 | MT-ND4L | c.32C>T (p.Ala11Val) | |
| MT | m.10502A= | CA2499566776 | MT-ND4L | c.33A= (p.Ala11=) | |
| MT | m.10502A>C | CA913163597 | MT-ND4L | c.33A>C (p.Ala11=) | |
| MT | m.10502A>G | CA913163600 | MT-ND4L | c.33A>G (p.Ala11=) | dbSNP |
| MT | m.10502A>T | CA913163598 | MT-ND4L | c.33A>T (p.Ala11=) | |
| MT | m.10503T>A | CA414805598 | MT-ND4L | c.34T>A (p.Phe12Ile) | |
| MT | m.10503T>C | CA414805601 | MT-ND4L | c.34T>C (p.Phe12Leu) | |
| MT | m.10503T>G | CA414805599 | MT-ND4L | c.34T>G (p.Phe12Val) | |
| MT | m.10503T= | CA2573326165 | MT-ND4L | c.34T= (p.Phe12=) | |
| MT | m.10504T>A | CA414805604 | MT-ND4L | c.35T>A (p.Phe12Tyr) | |
| MT | m.10504T>C | CA414805605 | MT-ND4L | c.35T>C (p.Phe12Ser) | |
| MT | m.10504T>G | CA414805607 | MT-ND4L | c.35T>G (p.Phe12Cys) | |
| MT | m.10504T= | CA2573326169 | MT-ND4L | c.35T= (p.Phe12=) | |
| MT | m.10505T>A | CA414805610 | MT-ND4L | c.36T>A (p.Phe12Leu) | |
| MT | m.10505T>C | CA913163612 | MT-ND4L | c.36T>C (p.Phe12=) | |
| MT | m.10505T>G | CA414805611 | MT-ND4L | c.36T>G (p.Phe12Leu) | |
| MT | m.10505T= | CA2573326172 | MT-ND4L | c.36T= (p.Phe12=) | |
| MT | m.10506A= | CA2499566777 | MT-ND4L | c.37A= (p.Thr13=) | |
| MT | m.10506A>C | CA414805614 | MT-ND4L | c.37A>C (p.Thr13Pro) | |
| MT | m.10506A>G | CA337098854 | MT-ND4L | c.37A>G (p.Thr13Ala) | ClinVar dbSNP |
| MT | m.10506A>T | CA414805616 | MT-ND4L | c.37A>T (p.Thr13Ser) | |
| MT | m.10507C>A | CA414805619 | MT-ND4L | c.38C>A (p.Thr13Asn) | |
| MT | m.10507C= | CA2499566778 | MT-ND4L | c.38C= (p.Thr13=) | |
| MT | m.10507C>G | CA414805621 | MT-ND4L | c.38C>G (p.Thr13Ser) | |
| MT | m.10507C>T | CA414805622 | MT-ND4L | c.38C>T (p.Thr13Ile) | ClinVar dbSNP |
| MT | m.10508C>A | CA913163626 | MT-ND4L | c.39C>A (p.Thr13=) | |
| MT | m.10508C= | CA2499566779 | MT-ND4L | c.39C= (p.Thr13=) | |
| MT | m.10508C>G | CA913163624 | MT-ND4L | c.39C>G (p.Thr13=) | |
| MT | m.10508C>T | CA913163623 | MT-ND4L | c.39C>T (p.Thr13=) | dbSNP |
| MT | m.10509A= | CA2573326182 | MT-ND4L | c.40A= (p.Ile14=) | |
| MT | m.10509A>C | CA414805628 | MT-ND4L | c.40A>C (p.Ile14Leu) | |
| MT | m.10509A>G | CA414805625 | MT-ND4L | c.40A>G (p.Ile14Val) | |
| MT | m.10509A>T | CA414805627 | MT-ND4L | c.40A>T (p.Ile14Phe) | |
| MT | m.10510T>A | CA414805630 | MT-ND4L | c.41T>A (p.Ile14Asn) | |
| MT | m.10510T>C | CA414805632 | MT-ND4L | c.41T>C (p.Ile14Thr) | |
| MT | m.10510T>G | CA414805634 | MT-ND4L | c.41T>G (p.Ile14Ser) | |
| MT | m.10510T= | CA2573326186 | MT-ND4L | c.41T= (p.Ile14=) | |
| MT | m.10511C>A | CA913163630 | MT-ND4L | c.42C>A (p.Ile14=) | |
| MT | m.10511C= | CA2573326191 | MT-ND4L | c.42C= (p.Ile14=) | |
| MT | m.10511C>G | CA414805636 | MT-ND4L | c.42C>G (p.Ile14Met) | |
| MT | m.10511C>T | CA913163634 | MT-ND4L | c.42C>T (p.Ile14=) | |
| MT | m.10512T>A | CA414805638 | MT-ND4L | c.43T>A (p.Ser15Thr) | |
| MT | m.10512T>C | CA414805640 | MT-ND4L | c.43T>C (p.Ser15Pro) | |
| MT | m.10512T>G | CA414805641 | MT-ND4L | c.43T>G (p.Ser15Ala) | |
| MT | m.10512T= | CA2573326192 | MT-ND4L | c.43T= (p.Ser15=) | |
| MT | m.10513C>A | CA414805644 | MT-ND4L | c.44C>A (p.Ser15Ter) | |
| MT | m.10513C= | CA2573326193 | MT-ND4L | c.44C= (p.Ser15=) | |
| MT | m.10513C>G | CA414805646 | MT-ND4L | c.44C>G (p.Ser15Ter) | |
| MT | m.10513C>T | CA414805647 | MT-ND4L | c.44C>T (p.Ser15Leu) | |
| MT | m.10514A= | CA2499566780 | MT-ND4L | c.45A= (p.Ser15=) | |
| MT | m.10514A>C | CA337098856 | MT-ND4L | c.45A>C (p.Ser15=) | |
| MT | m.10514A>G | CA913163637 | MT-ND4L | c.45A>G (p.Ser15=) | dbSNP |
| MT | m.10514A>T | CA337098859 | MT-ND4L | c.45A>T (p.Ser15=) | |
| MT | m.10515C>A | CA414805653 | MT-ND4L | c.46C>A (p.Leu16Ile) | |
| MT | m.10515C= | CA2573326196 | MT-ND4L | c.46C= (p.Leu16=) | |
| MT | m.10515C>G | CA414805654 | MT-ND4L | c.46C>G (p.Leu16Val) | |
| MT | m.10515C>T | CA414805656 | MT-ND4L | c.46C>T (p.Leu16Phe) | |
| MT | m.10516T>A | CA414805659 | MT-ND4L | c.47T>A (p.Leu16His) | |
| MT | m.10516T>C | CA414805660 | MT-ND4L | c.47T>C (p.Leu16Pro) | |
| MT | m.10516T>G | CA414805662 | MT-ND4L | c.47T>G (p.Leu16Arg) | |
| MT | m.10516T= | CA2573326198 | MT-ND4L | c.47T= (p.Leu16=) | |
| MT | m.10517T>A | CA913163649 | MT-ND4L | c.48T>A (p.Leu16=) | |
| MT | m.10517T>C | CA913163647 | MT-ND4L | c.48T>C (p.Leu16=) | |
| MT | m.10517T>G | CA913163646 | MT-ND4L | c.48T>G (p.Leu16=) | |
| MT | m.10517T= | CA2573326201 | MT-ND4L | c.48T= (p.Leu16=) | |
| MT | m.10518C>A | CA414805664 | MT-ND4L | c.49C>A (p.Leu17Ile) | |
| MT | m.10518C= | CA2573326203 | MT-ND4L | c.49C= (p.Leu17=) | |
| MT | m.10518C>G | CA414805665 | MT-ND4L | c.49C>G (p.Leu17Val) | |
| MT | m.10518C>T | CA913163652 | MT-ND4L | c.49C>T (p.Leu17=) | |
| MT | m.10519T>A | CA414805668 | MT-ND4L | c.50T>A (p.Leu17Gln) | |
| MT | m.10519T>C | CA414805670 | MT-ND4L | c.50T>C (p.Leu17Pro) | |
| MT | m.10519T>G | CA414805671 | MT-ND4L | c.50T>G (p.Leu17Arg) | |
| MT | m.10519T= | CA2573326206 | MT-ND4L | c.50T= (p.Leu17=) | |
| MT | m.10520A= | CA2573326209 | MT-ND4L | c.51A= (p.Leu17=) | |
| MT | m.10520A>C | CA913163667 | MT-ND4L | c.51A>C (p.Leu17=) | |
| MT | m.10520A>G | CA913163665 | MT-ND4L | c.51A>G (p.Leu17=) | |
| MT | m.10520A>T | CA913163663 | MT-ND4L | c.51A>T (p.Leu17=) | |
| MT | m.10521G>A | CA337098862 | MT-ND4L | c.52G>A (p.Gly18Arg) | dbSNP |
| MT | m.10521G>C | CA414805676 | MT-ND4L | c.52G>C (p.Gly18Arg) | |
| MT | m.10521G= | CA2499566781 | MT-ND4L | c.52G= (p.Gly18=) | |
| MT | m.10521G>T | CA414805674 | MT-ND4L | c.52G>T (p.Gly18Ter) | |
| MT | m.10522G>A | CA414805679 | MT-ND4L | c.53G>A (p.Gly18Glu) | ClinVar dbSNP |
| MT | m.10522G>C | CA414805681 | MT-ND4L | c.53G>C (p.Gly18Ala) | |
| MT | m.10522G= | CA2499566782 | MT-ND4L | c.53G= (p.Gly18=) | |
| MT | m.10522G>T | CA414805682 | MT-ND4L | c.53G>T (p.Gly18Val) | |
| MT | m.10523A= | CA2573326217 | MT-ND4L | c.54A= (p.Gly18=) | |
| MT | m.10523A>C | CA913163680 | MT-ND4L | c.54A>C (p.Gly18=) | |
| MT | m.10523A>G | CA913163677 | MT-ND4L | c.54A>G (p.Gly18=) | dbSNP |
| MT | m.10523A>T | CA913163683 | MT-ND4L | c.54A>T (p.Gly18=) | |
| MT | m.10524A= | CA2499566783 | MT-ND4L | c.55A= (p.Ile19=) | |
| MT | m.10524A>C | CA414805685 | MT-ND4L | c.55A>C (p.Ile19Leu) | |
| MT | m.10524A>G | CA414805686 | MT-ND4L | c.55A>G (p.Ile19Val) | ClinVar dbSNP |
| MT | m.10524A>T | CA414805688 | MT-ND4L | c.55A>T (p.Ile19Leu) | |
| MT | m.10525T>A | CA414805690 | MT-ND4L | c.56T>A (p.Ile19Lys) | |
| MT | m.10525T>C | CA414805692 | MT-ND4L | c.56T>C (p.Ile19Thr) | |
| MT | m.10525T>G | CA414805693 | MT-ND4L | c.56T>G (p.Ile19Arg) | |
| MT | m.10525T= | CA2573326225 | MT-ND4L | c.56T= (p.Ile19=) | |
| MT | m.10526A= | CA2573326230 | MT-ND4L | c.57A= (p.Ile19=) | |
| MT | m.10526A>C | CA913163692 | MT-ND4L | c.57A>C (p.Ile19=) | |
| MT | m.10526A>G | CA414805695 | MT-ND4L | c.57A>G (p.Ile19Met) | |
| MT | m.10526A>T | CA913163688 | MT-ND4L | c.57A>T (p.Ile19=) | |
| MT | m.10527C>A | CA414805697 | MT-ND4L | c.58C>A (p.Leu20Ile) | |
| MT | m.10527C= | CA2499566784 | MT-ND4L | c.58C= (p.Leu20=) | |
| MT | m.10527C>G | CA414805699 | MT-ND4L | c.58C>G (p.Leu20Val) | |
| MT | m.10527C>T | CA913163693 | MT-ND4L | c.58C>T (p.Leu20=) | dbSNP |
| MT | m.10528T>A | CA414805703 | MT-ND4L | c.59T>A (p.Leu20Gln) | |
| MT | m.10528T>C | CA414805705 | MT-ND4L | c.59T>C (p.Leu20Pro) | |
| MT | m.10528T>G | CA414805702 | MT-ND4L | c.59T>G (p.Leu20Arg) | |
| MT | m.10528T= | CA2573326234 | MT-ND4L | c.59T= (p.Leu20=) | |
| MT | m.10529A= | CA2499566785 | MT-ND4L | c.60A= (p.Leu20=) | |
| MT | m.10529A>C | CA913163702 | MT-ND4L | c.60A>C (p.Leu20=) | |
| MT | m.10529A>G | CA913163701 | MT-ND4L | c.60A>G (p.Leu20=) | dbSNP |
| MT | m.10529A>T | CA913163700 | MT-ND4L | c.60A>T (p.Leu20=) | |
| MT | m.10530G>A | CA414805707 | MT-ND4L | c.61G>A (p.Val21Ile) | ClinVar dbSNP |
| MT | m.10530G>C | CA414805709 | MT-ND4L | c.61G>C (p.Val21Leu) | |
| MT | m.10530G= | CA2499566786 | MT-ND4L | c.61G= (p.Val21=) | |
| MT | m.10530G>T | CA414805711 | MT-ND4L | c.61G>T (p.Val21Leu) | |
| MT | m.10531T>A | CA414805713 | MT-ND4L | c.62T>A (p.Val21Glu) | |
| MT | m.10531T>C | CA414805714 | MT-ND4L | c.62T>C (p.Val21Ala) | |
| MT | m.10531T>G | CA414805716 | MT-ND4L | c.62T>G (p.Val21Gly) | |
| MT | m.10531T= | CA2573326243 | MT-ND4L | c.62T= (p.Val21=) | |
| MT | m.10532A= | CA2573326245 | MT-ND4L | c.63A= (p.Val21=) | |
| MT | m.10532A>C | CA913163707 | MT-ND4L | c.63A>C (p.Val21=) | |
| MT | m.10532A>G | CA913163704 | MT-ND4L | c.63A>G (p.Val21=) | dbSNP |
| MT | m.10532A>T | CA913163705 | MT-ND4L | c.63A>T (p.Val21=) | |
| MT | m.10533T>A | CA414805722 | MT-ND4L | c.64T>A (p.Tyr22Asn) | |
| MT | m.10533T>C | CA414805719 | MT-ND4L | c.64T>C (p.Tyr22His) | |
| MT | m.10533T>G | CA414805720 | MT-ND4L | c.64T>G (p.Tyr22Asp) | |
| MT | m.10533T= | CA2573326247 | MT-ND4L | c.64T= (p.Tyr22=) | |
| MT | m.10534_10535insATATTTATGTAAATGAGGGGCATTTGGTAAATATGATTA | CA2740098340 | MT-ND4L | c.65_66insATATTTATGTAAATGAGGGGCATTTGGTAAATATGATTA (p.Tyr22Ter) | |
| MT | m.10534A= | CA2573326250 | MT-ND4L | c.65A= (p.Tyr22=) | |
| MT | m.10534A>C | CA414805725 | MT-ND4L | c.65A>C (p.Tyr22Ser) | |
| MT | m.10534A>G | CA414805726 | MT-ND4L | c.65A>G (p.Tyr22Cys) | |
| MT | m.10534A>T | CA414805728 | MT-ND4L | c.65A>T (p.Tyr22Phe) | |
| MT | m.10535T>A | CA414805730 | MT-ND4L | c.66T>A (p.Tyr22Ter) | |
| MT | m.10535T>C | CA913163720 | MT-ND4L | c.66T>C (p.Tyr22=) | dbSNP |
| MT | m.10535T>G | CA414805732 | MT-ND4L | c.66T>G (p.Tyr22Ter) | |
| MT | m.10535T= | CA2499566787 | MT-ND4L | c.66T= (p.Tyr22=) | |
| MT | m.10536C>A | CA414805734 | MT-ND4L | c.67C>A (p.Arg23Ser) | |
| MT | m.10536C= | CA2573326255 | MT-ND4L | c.67C= (p.Arg23=) | |
| MT | m.10536C>G | CA414805738 | MT-ND4L | c.67C>G (p.Arg23Gly) | |
| MT | m.10536C>T | CA414805736 | MT-ND4L | c.67C>T (p.Arg23Cys) | |
| MT | m.10536_10537insATAATTTAATGAGTCGAAATCATTCGTTTTGTTTAAACTATATACCAATTCGGTTCAGTCTAATCCTTTTT | CA2740098341 | MT-ND4L | c.67_68insATAATTTAATGAGTCGAAATCATTCGTTTTGTTTAAACTATATACCAATTCGGTTCAGTCTAATCCTTTTT (p.Arg23HisfsTer35) | |
| MT | m.10537G>A | CA414805740 | MT-ND4L | c.68G>A (p.Arg23His) | |
| MT | m.10537G>C | CA414805742 | MT-ND4L | c.68G>C (p.Arg23Pro) | |
| MT | m.10537G= | CA2573326257 | MT-ND4L | c.68G= (p.Arg23=) | |
| MT | m.10537G>T | CA414805744 | MT-ND4L | c.68G>T (p.Arg23Leu) | |
| MT | m.10538C>A | CA913163734 | MT-ND4L | c.69C>A (p.Arg23=) | dbSNP |
| MT | m.10538C= | CA2499566788 | MT-ND4L | c.69C= (p.Arg23=) | |
| MT | m.10538C>G | CA337098870 | MT-ND4L | c.69C>G (p.Arg23=) | |
| MT | m.10538C>T | CA337098873 | MT-ND4L | c.69C>T (p.Arg23=) | |
| MT | m.10539T>A | CA414805748 | MT-ND4L | c.70T>A (p.Ser24Thr) | |
| MT | m.10539T>C | CA414805750 | MT-ND4L | c.70T>C (p.Ser24Pro) | |
| MT | m.10539T>G | CA414805752 | MT-ND4L | c.70T>G (p.Ser24Ala) | |
| MT | m.10539T= | CA2573326263 | MT-ND4L | c.70T= (p.Ser24=) | |
| MT | m.10540C>A | CA414805754 | MT-ND4L | c.71C>A (p.Ser24Ter) | |
| MT | m.10540C= | CA2573326266 | MT-ND4L | c.71C= (p.Ser24=) | |
| MT | m.10540C>G | CA414805756 | MT-ND4L | c.71C>G (p.Ser24Ter) | |
| MT | m.10540C>T | CA414805757 | MT-ND4L | c.71C>T (p.Ser24Leu) | |
| MT | m.10541A= | CA2573326269 | MT-ND4L | c.72A= (p.Ser24=) | |
| MT | m.10541A>C | CA913163742 | MT-ND4L | c.72A>C (p.Ser24=) | |
| MT | m.10541A>G | CA913163741 | MT-ND4L | c.72A>G (p.Ser24=) | |
| MT | m.10541A>T | CA913163740 | MT-ND4L | c.72A>T (p.Ser24=) | |
| MT | m.10542C>A | CA414805763 | MT-ND4L | c.73C>A (p.His25Asn) | |
| MT | m.10542C= | CA2573326273 | MT-ND4L | c.73C= (p.His25=) | |
| MT | m.10542C>G | CA414805760 | MT-ND4L | c.73C>G (p.His25Asp) | |
| MT | m.10542C>T | CA414805761 | MT-ND4L | c.73C>T (p.His25Tyr) | |
| MT | m.10543A= | CA2573326274 | MT-ND4L | c.74A= (p.His25=) | |
| MT | m.10543A>C | CA414805766 | MT-ND4L | c.74A>C (p.His25Pro) | |
| MT | m.10543A>G | CA414805767 | MT-ND4L | c.74A>G (p.His25Arg) | |
| MT | m.10543A>T | CA414805769 | MT-ND4L | c.74A>T (p.His25Leu) | |
| MT | m.10544C>A | CA414805772 | MT-ND4L | c.75C>A (p.His25Gln) | |
| MT | m.10544C= | CA2499566789 | MT-ND4L | c.75C= (p.His25=) | |
| MT | m.10544C>G | CA414805773 | MT-ND4L | c.75C>G (p.His25Gln) | |
| MT | m.10544C>T | CA913163746 | MT-ND4L | c.75C>T (p.His25=) | dbSNP |
| MT | m.10545C>A | CA414805776 | MT-ND4L | c.76C>A (p.Leu26Ile) | |
| MT | m.10545C= | CA2573326278 | MT-ND4L | c.76C= (p.Leu26=) | |
| MT | m.10545C>G | CA414805777 | MT-ND4L | c.76C>G (p.Leu26Val) | |
| MT | m.10545C>T | CA414805779 | MT-ND4L | c.76C>T (p.Leu26Phe) | |
| MT | m.10546T>A | CA414805782 | MT-ND4L | c.77T>A (p.Leu26His) | |
| MT | m.10546T>C | CA414805783 | MT-ND4L | c.77T>C (p.Leu26Pro) | |
| MT | m.10546T>G | CA414805785 | MT-ND4L | c.77T>G (p.Leu26Arg) | |
| MT | m.10546T= | CA2573326279 | MT-ND4L | c.77T= (p.Leu26=) | |
| MT | m.10547C>A | CA913163748 | MT-ND4L | c.78C>A (p.Leu26=) | |
| MT | m.10547C= | CA2573326281 | MT-ND4L | c.78C= (p.Leu26=) | |
| MT | m.10547C>G | CA913163749 | MT-ND4L | c.78C>G (p.Leu26=) | |
| MT | m.10547C>T | CA913163750 | MT-ND4L | c.78C>T (p.Leu26=) | |
| MT | m.10548A= | CA2499566790 | MT-ND4L | c.79A= (p.Ile27=) | |
| MT | m.10548A>C | CA414805791 | MT-ND4L | c.79A>C (p.Ile27Leu) | dbSNP |
| MT | m.10548A>G | CA414805789 | MT-ND4L | c.79A>G (p.Ile27Val) | |
| MT | m.10548A>T | CA414805787 | MT-ND4L | c.79A>T (p.Ile27Leu) | |
| MT | m.10549T>A | CA414805792 | MT-ND4L | c.80T>A (p.Ile27Lys) | |
| MT | m.10549T>C | CA414805794 | MT-ND4L | c.80T>C (p.Ile27Thr) | dbSNP |
| MT | m.10549T>G | CA414805796 | MT-ND4L | c.80T>G (p.Ile27Arg) | |
| MT | m.10549T= | CA2499566791 | MT-ND4L | c.80T= (p.Ile27=) | |
| MT | m.10550A= | CA2499566792 | MT-ND4L | c.81A= (p.Ile27=) | |
| MT | m.10550A>C | CA337098876 | MT-ND4L | c.81A>C (p.Ile27=) | |
| MT | m.10550A>G | CA337098884 | MT-ND4L | c.81A>G (p.Ile27Met) | dbSNP |
| MT | m.10550A>T | CA337098886 | MT-ND4L | c.81A>T (p.Ile27=) | |
| MT | m.10551T>A | CA414805802 | MT-ND4L | c.82T>A (p.Ser28Thr) | |
| MT | m.10551T>C | CA414805804 | MT-ND4L | c.82T>C (p.Ser28Pro) | |
| MT | m.10551T>G | CA414805805 | MT-ND4L | c.82T>G (p.Ser28Ala) | |
| MT | m.10551T= | CA2573326291 | MT-ND4L | c.82T= (p.Ser28=) | |
| MT | m.10552C>A | CA414805808 | MT-ND4L | c.83C>A (p.Ser28Tyr) | |
| MT | m.10552C= | CA2573326305 | MT-ND4L | c.83C= (p.Ser28=) | |
| MT | m.10552C>G | CA414805809 | MT-ND4L | c.83C>G (p.Ser28Cys) | |
| MT | m.10552C>T | CA414805811 | MT-ND4L | c.83C>T (p.Ser28Phe) | |
| MT | m.10553C>A | CA913163789 | MT-ND4L | c.84C>A (p.Ser28=) | |
| MT | m.10553C= | CA2573326310 | MT-ND4L | c.84C= (p.Ser28=) | |
| MT | m.10553C>G | CA913163785 | MT-ND4L | c.84C>G (p.Ser28=) | |
| MT | m.10553C>T | CA913163788 | MT-ND4L | c.84C>T (p.Ser28=) | |
| MT | m.10554T>A | CA414805817 | MT-ND4L | c.85T>A (p.Ser29Thr) | |
| MT | m.10554T>C | CA414805814 | MT-ND4L | c.85T>C (p.Ser29Pro) | |
| MT | m.10554T>G | CA414805815 | MT-ND4L | c.85T>G (p.Ser29Ala) | |
| MT | m.10554T= | CA2573326311 | MT-ND4L | c.85T= (p.Ser29=) | |
| MT | m.10555C>A | CA414805820 | MT-ND4L | c.86C>A (p.Ser29Tyr) | |
| MT | m.10555C= | CA2573326315 | MT-ND4L | c.86C= (p.Ser29=) | |
| MT | m.10555C>G | CA414805823 | MT-ND4L | c.86C>G (p.Ser29Cys) | |
| MT | m.10555C>T | CA414805821 | MT-ND4L | c.86C>T (p.Ser29Phe) | |
| MT | m.10556C>A | CA913163797 | MT-ND4L | c.87C>A (p.Ser29=) | |
| MT | m.10556C= | CA2499566793 | MT-ND4L | c.87C= (p.Ser29=) | |
| MT | m.10556C>G | CA913163798 | MT-ND4L | c.87C>G (p.Ser29=) | dbSNP |
| MT | m.10556C>T | CA913163799 | MT-ND4L | c.87C>T (p.Ser29=) | dbSNP |
| MT | m.10557C>A | CA414805826 | MT-ND4L | c.88C>A (p.Leu30Ile) | |
| MT | m.10557C= | CA2573326320 | MT-ND4L | c.88C= (p.Leu30=) | |
| MT | m.10557C>G | CA414805827 | MT-ND4L | c.88C>G (p.Leu30Val) | |
| MT | m.10557C>T | CA913163800 | MT-ND4L | c.88C>T (p.Leu30=) | |
| MT | m.10558T>A | CA414805830 | MT-ND4L | c.89T>A (p.Leu30Gln) | |
| MT | m.10558T>C | CA414805832 | MT-ND4L | c.89T>C (p.Leu30Pro) | |
| MT | m.10558T>G | CA414805834 | MT-ND4L | c.89T>G (p.Leu30Arg) | |
| MT | m.10558T= | CA2573326322 | MT-ND4L | c.89T= (p.Leu30=) | |
| MT | m.10559A= | CA2499566794 | MT-ND4L | c.90A= (p.Leu30=) | |
| MT | m.10559A>C | CA913163806 | MT-ND4L | c.90A>C (p.Leu30=) | |
| MT | m.10559A>G | CA913163807 | MT-ND4L | c.90A>G (p.Leu30=) | dbSNP |
| MT | m.10559A>T | CA913163808 | MT-ND4L | c.90A>T (p.Leu30=) | |
| MT | m.10560C>A | CA414805836 | MT-ND4L | c.91C>A (p.Leu31Ile) | |
| MT | m.10560C= | CA2573326326 | MT-ND4L | c.91C= (p.Leu31=) | |
| MT | m.10560C>G | CA414805837 | MT-ND4L | c.91C>G (p.Leu31Val) | |
| MT | m.10560C>T | CA913163810 | MT-ND4L | c.91C>T (p.Leu31=) | |
| MT | m.10561T>A | CA414805840 | MT-ND4L | c.92T>A (p.Leu31Gln) | |
| MT | m.10561T>C | CA414805842 | MT-ND4L | c.92T>C (p.Leu31Pro) | dbSNP |
| MT | m.10561T>G | CA414805843 | MT-ND4L | c.92T>G (p.Leu31Arg) | |
| MT | m.10561T= | CA2499566796 | MT-ND4L | c.92T= (p.Leu31=) | |
| MT | m.10562A= | CA2499566797 | MT-ND4L | c.93A= (p.Leu31=) | |
| MT | m.10562A>C | CA913163819 | MT-ND4L | c.93A>C (p.Leu31=) | |
| MT | m.10562A>G | CA913163820 | MT-ND4L | c.93A>G (p.Leu31=) | dbSNP |
| MT | m.10562A>T | CA913163826 | MT-ND4L | c.93A>T (p.Leu31=) | |
| MT | m.10563T>A | CA414805848 | MT-ND4L | c.94T>A (p.Cys32Ser) | |
| MT | m.10563T>C | CA250589 | MT-ND4L | c.94T>C (p.Cys32Arg) | ClinVar dbSNP |
| MT | m.10563T>G | CA414805847 | MT-ND4L | c.94T>G (p.Cys32Gly) | |
| MT | m.10563T= | CA2499566798 | MT-ND4L | c.94T= (p.Cys32=) | |
| MT | m.10564G>A | CA414805851 | MT-ND4L | c.95G>A (p.Cys32Tyr) | |
| MT | m.10564G>C | CA414805853 | MT-ND4L | c.95G>C (p.Cys32Ser) | |
| MT | m.10564G= | CA2573326335 | MT-ND4L | c.95G= (p.Cys32=) | |
| MT | m.10564G>T | CA414805854 | MT-ND4L | c.95G>T (p.Cys32Phe) | |
| MT | m.10565C>A | CA414805857 | MT-ND4L | c.96C>A (p.Cys32Ter) | |
| MT | m.10565C= | CA2499566799 | MT-ND4L | c.96C= (p.Cys32=) | |
| MT | m.10565C>G | CA414805858 | MT-ND4L | c.96C>G (p.Cys32Trp) | |
| MT | m.10565C>T | CA913163845 | MT-ND4L | c.96C>T (p.Cys32=) | dbSNP |
| MT | m.10566C>A | CA414805860 | MT-ND4L | c.97C>A (p.Leu33Ile) | |
| MT | m.10566C= | CA2573326337 | MT-ND4L | c.97C= (p.Leu33=) | |
| MT | m.10566C>G | CA414805862 | MT-ND4L | c.97C>G (p.Leu33Val) | |
| MT | m.10566C>T | CA913163847 | MT-ND4L | c.97C>T (p.Leu33=) | |
| MT | m.10567T>A | CA414805865 | MT-ND4L | c.98T>A (p.Leu33Gln) | |
| MT | m.10567T>C | CA414805867 | MT-ND4L | c.98T>C (p.Leu33Pro) | dbSNP |
| MT | m.10567T>G | CA414805869 | MT-ND4L | c.98T>G (p.Leu33Arg) | |
| MT | m.10567T= | CA2499566800 | MT-ND4L | c.98T= (p.Leu33=) | |
| MT | m.10568A= | CA2573326343 | MT-ND4L | c.99A= (p.Leu33=) | |
| MT | m.10568A>C | CA913163856 | MT-ND4L | c.99A>C (p.Leu33=) | |
| MT | m.10568A>G | CA913163857 | MT-ND4L | c.99A>G (p.Leu33=) | |
| MT | m.10568A>T | CA913163862 | MT-ND4L | c.99A>T (p.Leu33=) | |
| MT | m.10569G>A | CA414805874 | MT-ND4L | c.100G>A (p.Glu34Lys) | |
| MT | m.10569G>C | CA414805872 | MT-ND4L | c.100G>C (p.Glu34Gln) | |
| MT | m.10569G= | CA2573326344 | MT-ND4L | c.100G= (p.Glu34=) | |
| MT | m.10569G>T | CA414805871 | MT-ND4L | c.100G>T (p.Glu34Ter) | |
| MT | m.10570A= | CA2573326347 | MT-ND4L | c.101A= (p.Glu34=) | |
| MT | m.10570A>C | CA414805881 | MT-ND4L | c.101A>C (p.Glu34Ala) | |
| MT | m.10570A>G | CA414805877 | MT-ND4L | c.101A>G (p.Glu34Gly) | |
| MT | m.10570A>T | CA414805879 | MT-ND4L | c.101A>T (p.Glu34Val) | |
| MT | m.10571A= | CA2573326349 | MT-ND4L | c.102A= (p.Glu34=) | |
| MT | m.10571A>C | CA414805883 | MT-ND4L | c.102A>C (p.Glu34Asp) | |
| MT | m.10571A>G | CA913163865 | MT-ND4L | c.102A>G (p.Glu34=) | |
| MT | m.10571A>T | CA414805885 | MT-ND4L | c.102A>T (p.Glu34Asp) | |
| MT | m.10572G>A | CA337098889 | MT-ND4L | c.103G>A (p.Gly35Arg) | dbSNP |
| MT | m.10572G>C | CA414805889 | MT-ND4L | c.103G>C (p.Gly35Arg) | |
| MT | m.10572G= | CA2499566801 | MT-ND4L | c.103G= (p.Gly35=) | |
| MT | m.10572G>T | CA414805891 | MT-ND4L | c.103G>T (p.Gly35Ter) | |
| MT | m.10573G>A | CA414805893 | MT-ND4L | c.104G>A (p.Gly35Glu) | dbSNP |
| MT | m.10573G>C | CA414805895 | MT-ND4L | c.104G>C (p.Gly35Ala) | |
| MT | m.10573G= | CA2499566802 | MT-ND4L | c.104G= (p.Gly35=) | |
| MT | m.10573G>T | CA414805897 | MT-ND4L | c.104G>T (p.Gly35Val) | |
| MT | m.10574A= | CA2573326354 | MT-ND4L | c.105A= (p.Gly35=) | |
| MT | m.10574A>C | CA913163878 | MT-ND4L | c.105A>C (p.Gly35=) | |
| MT | m.10574A>G | CA913163879 | MT-ND4L | c.105A>G (p.Gly35=) | |
| MT | m.10574A>T | CA913163880 | MT-ND4L | c.105A>T (p.Gly35=) | |
| MT | m.10575A= | CA2573326355 | MT-ND4L | c.106A= (p.Ile36=) | |
| MT | m.10575A>C | CA414805899 | MT-ND4L | c.106A>C (p.Ile36Leu) | |
| MT | m.10575A>G | CA414805901 | MT-ND4L | c.106A>G (p.Ile36Val) | |
| MT | m.10575A>T | CA414805903 | MT-ND4L | c.106A>T (p.Ile36Leu) | |
| MT | m.10576T>A | CA414805906 | MT-ND4L | c.107T>A (p.Ile36Lys) | |
| MT | m.10576T>C | CA414805910 | MT-ND4L | c.107T>C (p.Ile36Thr) | |
| MT | m.10576T>G | CA414805908 | MT-ND4L | c.107T>G (p.Ile36Arg) | |
| MT | m.10576T= | CA2573326358 | MT-ND4L | c.107T= (p.Ile36=) | |
| MT | m.10577A= | CA2499566804 | MT-ND4L | c.108A= (p.Ile36=) | |
| MT | m.10577A>C | CA913163887 | MT-ND4L | c.108A>C (p.Ile36=) | |
| MT | m.10577A>G | CA414805913 | MT-ND4L | c.108A>G (p.Ile36Met) | dbSNP |
| MT | m.10577A>T | CA913163890 | MT-ND4L | c.108A>T (p.Ile36=) | |
| MT | m.10578A= | CA2573326362 | MT-ND4L | c.109A= (p.Ile37=) | |
| MT | m.10578A>C | CA414805915 | MT-ND4L | c.109A>C (p.Ile37Leu) | |
| MT | m.10578A>G | CA414805917 | MT-ND4L | c.109A>G (p.Ile37Val) | |
| MT | m.10578A>T | CA414805919 | MT-ND4L | c.109A>T (p.Ile37Leu) | |
| MT | m.10579T>A | CA414805921 | MT-ND4L | c.110T>A (p.Ile37Lys) | |
| MT | m.10579T>C | CA414805923 | MT-ND4L | c.110T>C (p.Ile37Thr) | ClinVar dbSNP |
| MT | m.10579T>G | CA414805925 | MT-ND4L | c.110T>G (p.Ile37Arg) | |
| MT | m.10579T= | CA2499566805 | MT-ND4L | c.110T= (p.Ile37=) | |
| MT | m.10580A= | CA2499566806 | MT-ND4L | c.111A= (p.Ile37=) | |
| MT | m.10580A>C | CA913163903 | MT-ND4L | c.111A>C (p.Ile37=) | |
| MT | m.10580A>G | CA414805927 | MT-ND4L | c.111A>G (p.Ile37Met) | dbSNP |
| MT | m.10580A>T | CA913163910 | MT-ND4L | c.111A>T (p.Ile37=) | |
| MT | m.10581del | CA2573105063 | MT-ND4L | c.112del (p.Leu38TyrfsTer6) | |
| MT | m.10581C>A | CA414805929 | MT-ND4L | c.112C>A (p.Leu38Ile) | |
| MT | m.10581C= | CA2499566808 | MT-ND4L | c.112C= (p.Leu38=) | |
| MT | m.10581C>G | CA414805930 | MT-ND4L | c.112C>G (p.Leu38Val) | |
| MT | m.10581C>T | CA913163911 | MT-ND4L | c.112C>T (p.Leu38=) | dbSNP |
| MT | m.10582T>A | CA414805934 | MT-ND4L | c.113T>A (p.Leu38Gln) | |
| MT | m.10582T>C | CA414805936 | MT-ND4L | c.113T>C (p.Leu38Pro) | |
| MT | m.10582T>G | CA414805932 | MT-ND4L | c.113T>G (p.Leu38Arg) | |
| MT | m.10582T= | CA2573326371 | MT-ND4L | c.113T= (p.Leu38=) | |
| MT | m.10583A= | CA2499566810 | MT-ND4L | c.114A= (p.Leu38=) | |
| MT | m.10583A>C | CA337098895 | MT-ND4L | c.114A>C (p.Leu38=) | |
| MT | m.10583A>G | CA913163916 | MT-ND4L | c.114A>G (p.Leu38=) | dbSNP |
| MT | m.10583A>T | CA337098892 | MT-ND4L | c.114A>T (p.Leu38=) | |
| MT | m.10584T>A | CA414805941 | MT-ND4L | c.115T>A (p.Ser39Thr) | |
| MT | m.10584T>C | CA414805942 | MT-ND4L | c.115T>C (p.Ser39Pro) | COSMIC |
| MT | m.10584T>G | CA414805945 | MT-ND4L | c.115T>G (p.Ser39Ala) | |
| MT | m.10584T= | CA2573326376 | MT-ND4L | c.115T= (p.Ser39=) | |
| MT | m.10585C>A | CA414805949 | MT-ND4L | c.116C>A (p.Ser39Ter) | |
| MT | m.10585C= | CA2573326379 | MT-ND4L | c.116C= (p.Ser39=) | |
| MT | m.10585C>G | CA414805950 | MT-ND4L | c.116C>G (p.Ser39Trp) | |
| MT | m.10585C>T | CA414805951 | MT-ND4L | c.116C>T (p.Ser39Leu) | |
| MT | m.10586G>A | CA337098897 | MT-ND4L | c.117G>A (p.Ser39=) | dbSNP |
| MT | m.10586G>C | CA913163937 | MT-ND4L | c.117G>C (p.Ser39=) | dbSNP |
| MT | m.10586G= | CA2499566811 | MT-ND4L | c.117G= (p.Ser39=) | |
| MT | m.10586G>T | CA913163938 | MT-ND4L | c.117G>T (p.Ser39=) | |
| MT | m.10587C>A | CA337098900 | MT-ND4L | c.118C>A (p.Leu40Met) | |
| MT | m.10587C= | CA2499566813 | MT-ND4L | c.118C= (p.Leu40=) | |
| MT | m.10587C>G | CA337098901 | MT-ND4L | c.118C>G (p.Leu40Val) | |
| MT | m.10587C>T | CA913163941 | MT-ND4L | c.118C>T (p.Leu40=) | dbSNP |
| MT | m.10588T>A | CA414805958 | MT-ND4L | c.119T>A (p.Leu40Gln) | |
| MT | m.10588T>C | CA414805960 | MT-ND4L | c.119T>C (p.Leu40Pro) | |
| MT | m.10588T>G | CA414805962 | MT-ND4L | c.119T>G (p.Leu40Arg) | |
| MT | m.10588T= | CA2573326387 | MT-ND4L | c.119T= (p.Leu40=) | |
| MT | m.10589G>A | CA337098902 | MT-ND4L | c.120G>A (p.Leu40=) | dbSNP |
| MT | m.10589G>C | CA913163950 | MT-ND4L | c.120G>C (p.Leu40=) | |
| MT | m.10589G= | CA2499566814 | MT-ND4L | c.120G= (p.Leu40=) | |
| MT | m.10589G>T | CA913163951 | MT-ND4L | c.120G>T (p.Leu40=) |