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.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6470_15588del | CA645373332 | 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.14751C>A | CA913171990 | MT-CYB | c.5C>A (p.Thr2Asn) | |
| MT | m.14751C= | CA2499568622 | MT-CYB | c.5C= (p.Thr2=) | |
| MT | m.14751C>G | CA913171989 | MT-CYB | c.5C>G (p.Thr2Ser) | |
| MT | m.14751C>T | CA913171988 | MT-CYB | c.5C>T (p.Thr2Ile) | ClinVar dbSNP |
| MT | m.14754del | CA2573105316 | MT-CYB | c.8del (p.Pro3GlnfsTer8) | |
| MT | m.14752C>A | CA913171991 | MT-CYB | c.6C>A (p.Thr2=) | |
| MT | m.14752C= | CA2499568623 | MT-CYB | c.6C= (p.Thr2=) | |
| MT | m.14752C>G | CA913171992 | MT-CYB | c.6C>G (p.Thr2=) | |
| MT | m.14752C>T | CA645611433 | MT-CYB | c.6C>T (p.Thr2=) | dbSNP COSMIC COSMIC |
| MT | m.14753C>A | CA913171993 | MT-CYB | c.7C>A (p.Pro3Thr) | |
| MT | m.14753C= | CA2499568624 | MT-CYB | c.7C= (p.Pro3=) | |
| MT | m.14753C>G | CA913171994 | MT-CYB | c.7C>G (p.Pro3Ala) | |
| MT | m.14753C>T | CA170519 | MT-CYB | c.7C>T (p.Pro3Ser) | ClinVar dbSNP |
| MT | m.14754C>A | CA913171995 | MT-CYB | c.8C>A (p.Pro3Gln) | |
| MT | m.14754C= | CA2573327840 | MT-CYB | c.8C= (p.Pro3=) | |
| MT | m.14754C>G | CA913171996 | MT-CYB | c.8C>G (p.Pro3Arg) | |
| MT | m.14754C>T | CA913171997 | MT-CYB | c.8C>T (p.Pro3Leu) | |
| MT | m.14755A= | CA2499568625 | MT-CYB | c.9A= (p.Pro3=) | |
| MT | m.14755A>C | CA913172000 | MT-CYB | c.9A>C (p.Pro3=) | dbSNP |
| MT | m.14755A>G | CA913171999 | MT-CYB | c.9A>G (p.Pro3=) | dbSNP |
| MT | m.14755A>T | CA913171998 | MT-CYB | c.9A>T (p.Pro3=) | dbSNP |
| MT | m.14756A= | CA2499568626 | MT-CYB | c.10A= (p.Ile4=) | |
| MT | m.14756A>C | CA913172001 | MT-CYB | c.10A>C (p.Ile4Leu) | |
| MT | m.14756A>G | CA913172002 | MT-CYB | c.10A>G (p.Ile4Val) | dbSNP |
| MT | m.14756A>T | CA913172003 | MT-CYB | c.10A>T (p.Ile4Leu) | |
| MT | m.14757T>A | CA913172004 | MT-CYB | c.11T>A (p.Ile4Lys) | |
| MT | m.14757T>C | CA913172005 | MT-CYB | c.11T>C (p.Ile4Thr) | ClinVar dbSNP |
| MT | m.14757T>G | CA913172006 | MT-CYB | c.11T>G (p.Ile4Arg) | |
| MT | m.14757T= | CA2499568627 | MT-CYB | c.11T= (p.Ile4=) | |
| MT | m.14758A= | CA2573327849 | MT-CYB | c.12A= (p.Ile4=) | |
| MT | m.14758A>C | CA913172007 | MT-CYB | c.12A>C (p.Ile4=) | |
| MT | m.14758A>G | CA913172008 | MT-CYB | c.12A>G (p.Ile4Met) | |
| MT | m.14758A>T | CA913172009 | MT-CYB | c.12A>T (p.Ile4=) | |
| MT | m.14759C>A | CA913172010 | MT-CYB | c.13C>A (p.Arg5Ser) | |
| MT | m.14759C= | CA2573327851 | MT-CYB | c.13C= (p.Arg5=) | |
| MT | m.14759C>G | CA913172011 | MT-CYB | c.13C>G (p.Arg5Gly) | |
| MT | m.14759C>T | CA913172012 | MT-CYB | c.13C>T (p.Arg5Cys) | |
| MT | m.14760G>A | CA913172014 | MT-CYB | c.14G>A (p.Arg5His) | ClinVar dbSNP |
| MT | m.14760G>C | CA913172015 | MT-CYB | c.14G>C (p.Arg5Pro) | |
| MT | m.14760G= | CA2499568628 | MT-CYB | c.14G= (p.Arg5=) | |
| MT | m.14760G>T | CA913172013 | MT-CYB | c.14G>T (p.Arg5Leu) | |
| MT | m.14761C>A | CA913172016 | MT-CYB | c.15C>A (p.Arg5=) | |
| MT | m.14761C= | CA2499568629 | MT-CYB | c.15C= (p.Arg5=) | |
| MT | m.14761C>G | CA913172017 | MT-CYB | c.15C>G (p.Arg5=) | |
| MT | m.14761C>T | CA913172018 | MT-CYB | c.15C>T (p.Arg5=) | dbSNP |
| MT | m.14762A= | CA2573327859 | MT-CYB | c.16A= (p.Lys6=) | |
| MT | m.14762A>C | CA913172019 | MT-CYB | c.16A>C (p.Lys6Gln) | |
| MT | m.14762A>G | CA913172020 | MT-CYB | c.16A>G (p.Lys6Glu) | |
| MT | m.14762A>T | CA913172021 | MT-CYB | c.16A>T (p.Lys6Ter) | |
| MT | m.14763A= | CA2573327861 | MT-CYB | c.17A= (p.Lys6=) | |
| MT | m.14763A>C | CA913172022 | MT-CYB | c.17A>C (p.Lys6Thr) | |
| MT | m.14763A>G | CA913172023 | MT-CYB | c.17A>G (p.Lys6Arg) | |
| MT | m.14763A>T | CA913172024 | MT-CYB | c.17A>T (p.Lys6Ile) | |
| MT | m.14764A= | CA2573327863 | MT-CYB | c.18A= (p.Lys6=) | |
| MT | m.14764A>C | CA913172025 | MT-CYB | c.18A>C (p.Lys6Asn) | |
| MT | m.14764A>G | CA913172026 | MT-CYB | c.18A>G (p.Lys6=) | dbSNP |
| MT | m.14764A>T | CA913172027 | MT-CYB | c.18A>T (p.Lys6Asn) | |
| MT | m.14765A= | CA2499568630 | MT-CYB | c.19A= (p.Thr7=) | |
| MT | m.14765A>C | CA913172028 | MT-CYB | c.19A>C (p.Thr7Pro) | |
| MT | m.14765A>G | CA913172030 | MT-CYB | c.19A>G (p.Thr7Ala) | |
| MT | m.14765A>T | CA913172029 | MT-CYB | c.19A>T (p.Thr7Ser) | ClinVar dbSNP |
| MT | m.14766_14776del | CA2740098396 | MT-CYB | c.20_30del (p.Thr7AsnfsTer5) | |
| MT | m.14766C>A | CA337100147 | MT-CYB | c.20C>A (p.Thr7Asn) | |
| MT | m.14766C= | CA2499568631 | MT-CYB | c.20C= (p.Thr7=) | |
| MT | m.14766C>G | CA337100144 | MT-CYB | c.20C>G (p.Thr7Ser) | |
| MT | m.14766C>T | CA345703 | MT-CYB | c.20C>T (p.Thr7Ile) | ClinVar dbSNP |
| MT | m.14767T>A | CA913172032 | MT-CYB | c.21T>A (p.Thr7=) | |
| MT | m.14767T>C | CA645611434 | MT-CYB | c.21T>C (p.Thr7=) | dbSNP COSMIC COSMIC |
| MT | m.14767T>G | CA913172031 | MT-CYB | c.21T>G (p.Thr7=) | |
| MT | m.14767T= | CA2499568632 | MT-CYB | c.21T= (p.Thr7=) | |
| MT | m.14768A= | CA2499568633 | MT-CYB | c.22A= (p.Asn8=) | |
| MT | m.14768A>C | CA913172035 | MT-CYB | c.22A>C (p.Asn8His) | |
| MT | m.14768A>G | CA913172034 | MT-CYB | c.22A>G (p.Asn8Asp) | ClinVar dbSNP |
| MT | m.14768A>T | CA913172033 | MT-CYB | c.22A>T (p.Asn8Tyr) | |
| MT | m.14769A= | CA2499568634 | MT-CYB | c.23A= (p.Asn8=) | |
| MT | m.14769A>C | CA913172037 | MT-CYB | c.23A>C (p.Asn8Thr) | |
| MT | m.14769A>G | CA337100150 | MT-CYB | c.23A>G (p.Asn8Ser) | ClinVar dbSNP |
| MT | m.14769A>T | CA913172036 | MT-CYB | c.23A>T (p.Asn8Ile) | |
| MT | m.14770C>A | CA913172038 | MT-CYB | c.24C>A (p.Asn8Lys) | |
| MT | m.14770C= | CA2499568635 | MT-CYB | c.24C= (p.Asn8=) | |
| MT | m.14770C>G | CA913172039 | MT-CYB | c.24C>G (p.Asn8Lys) | |
| MT | m.14770C>T | CA913172040 | MT-CYB | c.24C>T (p.Asn8=) | dbSNP |
| MT | m.14774dup | CA2573105317 | MT-CYB | c.28dup (p.Leu10ProfsTer6) | |
| MT | m.14771C>A | CA645509242 | MT-CYB | c.25C>A (p.Pro9Thr) | ClinVar dbSNP |
| MT | m.14771C= | CA2499568636 | MT-CYB | c.25C= (p.Pro9=) | |
| MT | m.14771C>G | CA913172042 | MT-CYB | c.25C>G (p.Pro9Ala) | |
| MT | m.14771C>T | CA913172041 | MT-CYB | c.25C>T (p.Pro9Ser) | |
| MT | m.14772C>A | CA913172045 | MT-CYB | c.26C>A (p.Pro9His) | |
| MT | m.14772C= | CA2573327881 | MT-CYB | c.26C= (p.Pro9=) | |
| MT | m.14772C>G | CA913172044 | MT-CYB | c.26C>G (p.Pro9Arg) | |
| MT | m.14772C>T | CA913172043 | MT-CYB | c.26C>T (p.Pro9Leu) | |
| MT | m.14773C>A | CA913172048 | MT-CYB | c.27C>A (p.Pro9=) | |
| MT | m.14773C= | CA2499568637 | MT-CYB | c.27C= (p.Pro9=) | |
| MT | m.14773C>G | CA913172047 | MT-CYB | c.27C>G (p.Pro9=) | |
| MT | m.14773C>T | CA913172046 | MT-CYB | c.27C>T (p.Pro9=) | dbSNP |
| MT | m.14774C>A | CA913172051 | MT-CYB | c.28C>A (p.Leu10Ile) | |
| MT | m.14774C= | CA2499568638 | MT-CYB | c.28C= (p.Leu10=) | |
| MT | m.14774C>G | CA913172050 | MT-CYB | c.28C>G (p.Leu10Val) | |
| MT | m.14774C>T | CA913172049 | MT-CYB | c.28C>T (p.Leu10=) | dbSNP |
| MT | m.14775del | CA2573105318 | MT-CYB | c.29del (p.Leu10GlnfsTer2) | |
| MT | m.14775T>A | CA913172054 | MT-CYB | c.29T>A (p.Leu10Gln) | |
| MT | m.14775T>C | CA913172053 | MT-CYB | c.29T>C (p.Leu10Pro) | |
| MT | m.14775T>G | CA913172052 | MT-CYB | c.29T>G (p.Leu10Arg) | |
| MT | m.14775T= | CA2573327884 | MT-CYB | c.29T= (p.Leu10=) | |
| MT | m.14776A= | CA2499568639 | MT-CYB | c.30A= (p.Leu10=) | |
| MT | m.14776A>C | CA913172055 | MT-CYB | c.30A>C (p.Leu10=) | |
| MT | m.14776A>G | CA913172056 | MT-CYB | c.30A>G (p.Leu10=) | dbSNP |
| MT | m.14776A>T | CA913172057 | MT-CYB | c.30A>T (p.Leu10=) | |
| MT | m.14777A= | CA2573327886 | MT-CYB | c.31A= (p.Ile11=) | |
| MT | m.14777A>C | CA913172058 | MT-CYB | c.31A>C (p.Ile11Leu) | |
| MT | m.14777A>G | CA913172059 | MT-CYB | c.31A>G (p.Ile11Val) | |
| MT | m.14777A>T | CA913172060 | MT-CYB | c.31A>T (p.Ile11Leu) | |
| MT | m.14778T>A | CA913172061 | MT-CYB | c.32T>A (p.Ile11Lys) | |
| MT | m.14778T>C | CA913172062 | MT-CYB | c.32T>C (p.Ile11Thr) | ClinVar dbSNP |
| MT | m.14778T>G | CA913172063 | MT-CYB | c.32T>G (p.Ile11Arg) | |
| MT | m.14778T= | CA2499568640 | MT-CYB | c.32T= (p.Ile11=) | |
| MT | m.14779A= | CA2573327888 | MT-CYB | c.33A= (p.Ile11=) | |
| MT | m.14779A>C | CA913172065 | MT-CYB | c.33A>C (p.Ile11=) | |
| MT | m.14779A>G | CA913172064 | MT-CYB | c.33A>G (p.Ile11Met) | |
| MT | m.14779A>T | CA913172066 | MT-CYB | c.33A>T (p.Ile11=) | |
| MT | m.14780A= | CA2573327892 | MT-CYB | c.34A= (p.Lys12=) | |
| MT | m.14780A>C | CA913172067 | MT-CYB | c.34A>C (p.Lys12Gln) | |
| MT | m.14780A>G | CA913172068 | MT-CYB | c.34A>G (p.Lys12Glu) | |
| MT | m.14780A>T | CA913172069 | MT-CYB | c.34A>T (p.Lys12Ter) | |
| MT | m.14780_14784delinsAAATT | CA2499568641 | MT-CYB | c.34_38delinsAAATT (p.Lys12=) | |
| MT | m.14781A= | CA2573327895 | MT-CYB | c.35A= (p.Lys12=) | |
| MT | m.14781A>C | CA913172070 | MT-CYB | c.35A>C (p.Lys12Thr) | |
| MT | m.14781A>G | CA913172072 | MT-CYB | c.35A>G (p.Lys12Arg) | |
| MT | m.14781A>T | CA913172071 | MT-CYB | c.35A>T (p.Lys12Ile) | |
| MT | m.14787_14790del | CA120624 | MT-CYB | c.41_44del (p.Ile14ThrfsTer27) | ClinVar dbSNP |
| MT | m.14782A= | CA2499568642 | MT-CYB | c.36A= (p.Lys12=) | |
| MT | m.14782A>C | CA913172075 | MT-CYB | c.36A>C (p.Lys12Asn) | |
| MT | m.14782A>G | CA913172074 | MT-CYB | c.36A>G (p.Lys12=) | dbSNP |
| MT | m.14782A>T | CA913172073 | MT-CYB | c.36A>T (p.Lys12Asn) | |
| MT | m.14783T>A | CA337100155 | MT-CYB | c.37T>A (p.Leu13Ile) | |
| MT | m.14783T>C | CA345704 | MT-CYB | c.37T>C (p.Leu13=) | ClinVar dbSNP |
| MT | m.14783T>G | CA337100158 | MT-CYB | c.37T>G (p.Leu13Val) | |
| MT | m.14783T= | CA2499568643 | MT-CYB | c.37T= (p.Leu13=) | |
| MT | m.14784T>A | CA913172077 | MT-CYB | c.38T>A (p.Leu13Ter) | |
| MT | m.14784T>C | CA170520 | MT-CYB | c.38T>C (p.Leu13Ser) | ClinVar dbSNP |
| MT | m.14784T>G | CA913172076 | MT-CYB | c.38T>G (p.Leu13Ter) | |
| MT | m.14784T= | CA2499568644 | MT-CYB | c.38T= (p.Leu13=) | |
| MT | m.14785A= | CA2499568645 | MT-CYB | c.39A= (p.Leu13=) | |
| MT | m.14785A>C | CA913172078 | MT-CYB | c.39A>C (p.Leu13Phe) | |
| MT | m.14785A>G | CA913172079 | MT-CYB | c.39A>G (p.Leu13=) | dbSNP |
| MT | m.14785A>T | CA913172080 | MT-CYB | c.39A>T (p.Leu13Phe) | |
| MT | m.14786A= | CA2499568646 | MT-CYB | c.40A= (p.Ile14=) | |
| MT | m.14786A>C | CA913172081 | MT-CYB | c.40A>C (p.Ile14Leu) | |
| MT | m.14786A>G | CA913172083 | MT-CYB | c.40A>G (p.Ile14Val) | ClinVar dbSNP |
| MT | m.14786A>T | CA913172082 | MT-CYB | c.40A>T (p.Ile14Phe) | |
| MT | m.14787T>A | CA913172086 | MT-CYB | c.41T>A (p.Ile14Asn) | |
| MT | m.14787T>C | CA913172085 | MT-CYB | c.41T>C (p.Ile14Thr) | |
| MT | m.14787T>G | CA913172084 | MT-CYB | c.41T>G (p.Ile14Ser) | |
| MT | m.14787T= | CA2573327904 | MT-CYB | c.41T= (p.Ile14=) | |
| MT | m.14788T>A | CA913172087 | MT-CYB | c.42T>A (p.Ile14=) | |
| MT | m.14788T>C | CA913172088 | MT-CYB | c.42T>C (p.Ile14=) | dbSNP |
| MT | m.14788T>G | CA913172089 | MT-CYB | c.42T>G (p.Ile14Met) | |
| MT | m.14788T= | CA2499568647 | MT-CYB | c.42T= (p.Ile14=) | |
| MT | m.14789A= | CA2573327908 | MT-CYB | c.43A= (p.Asn15=) | |
| MT | m.14789A>C | CA913172092 | MT-CYB | c.43A>C (p.Asn15His) | |
| MT | m.14789A>G | CA913172091 | MT-CYB | c.43A>G (p.Asn15Asp) | |
| MT | m.14789A>T | CA913172090 | MT-CYB | c.43A>T (p.Asn15Tyr) | |
| MT | m.14790A= | CA2499568648 | MT-CYB | c.44A= (p.Asn15=) | |
| MT | m.14790A>C | CA913172095 | MT-CYB | c.44A>C (p.Asn15Thr) | |
| MT | m.14790A>G | CA913172094 | MT-CYB | c.44A>G (p.Asn15Ser) | ClinVar dbSNP |
| MT | m.14790A>T | CA913172093 | MT-CYB | c.44A>T (p.Asn15Ile) | |
| MT | m.14791C>A | CA913172098 | MT-CYB | c.45C>A (p.Asn15Lys) | |
| MT | m.14791C= | CA2499568649 | MT-CYB | c.45C= (p.Asn15=) | |
| MT | m.14791C>G | CA913172096 | MT-CYB | c.45C>G (p.Asn15Lys) | |
| MT | m.14791C>T | CA913172097 | MT-CYB | c.45C>T (p.Asn15=) | dbSNP |
| MT | m.14792C>A | CA913172100 | MT-CYB | c.46C>A (p.His16Asn) | |
| MT | m.14792C= | CA2499568650 | MT-CYB | c.46C= (p.His16=) | |
| MT | m.14792C>G | CA913172099 | MT-CYB | c.46C>G (p.His16Asp) | |
| MT | m.14792C>T | CA913172101 | MT-CYB | c.46C>T (p.His16Tyr) | ClinVar dbSNP |
| MT | m.14793A= | CA2499568651 | MT-CYB | c.47A= (p.His16=) | |
| MT | m.14793A>C | CA913172103 | MT-CYB | c.47A>C (p.His16Pro) | |
| MT | m.14793A>G | CA337100162 | MT-CYB | c.47A>G (p.His16Arg) | ClinVar dbSNP |
| MT | m.14793A>T | CA913172102 | MT-CYB | c.47A>T (p.His16Leu) | |
| MT | m.14794C>A | CA913172104 | MT-CYB | c.48C>A (p.His16Gln) | |
| MT | m.14794C= | CA2499568652 | MT-CYB | c.48C= (p.His16=) | |
| MT | m.14794C>G | CA913172105 | MT-CYB | c.48C>G (p.His16Gln) | |
| MT | m.14794C>T | CA913172106 | MT-CYB | c.48C>T (p.His16=) | dbSNP |
| MT | m.14795T>A | CA913172107 | MT-CYB | c.49T>A (p.Ser17Thr) | |
| MT | m.14795T>C | CA913172109 | MT-CYB | c.49T>C (p.Ser17Pro) | ClinVar dbSNP |
| MT | m.14795T>G | CA913172108 | MT-CYB | c.49T>G (p.Ser17Ala) | |
| MT | m.14795T= | CA2499568653 | MT-CYB | c.49T= (p.Ser17=) | |
| MT | m.14796C>A | CA913172112 | MT-CYB | c.50C>A (p.Ser17Ter) | |
| MT | m.14796C= | CA2573327921 | MT-CYB | c.50C= (p.Ser17=) | |
| MT | m.14796C>G | CA913172111 | MT-CYB | c.50C>G (p.Ser17Ter) | |
| MT | m.14796C>T | CA913172110 | MT-CYB | c.50C>T (p.Ser17Leu) | |
| MT | m.14797A= | CA2573327923 | MT-CYB | c.51A= (p.Ser17=) | |
| MT | m.14797A>C | CA913172115 | MT-CYB | c.51A>C (p.Ser17=) | |
| MT | m.14797A>G | CA913172114 | MT-CYB | c.51A>G (p.Ser17=) | |
| MT | m.14797A>T | CA913172113 | MT-CYB | c.51A>T (p.Ser17=) | |
| MT | m.14798T>A | CA913172117 | MT-CYB | c.52T>A (p.Phe18Ile) | |
| MT | m.14798T>C | CA337100164 | MT-CYB | c.52T>C (p.Phe18Leu) | ClinVar dbSNP |
| MT | m.14798T>G | CA913172116 | MT-CYB | c.52T>G (p.Phe18Val) | |
| MT | m.14798T= | CA2499568654 | MT-CYB | c.52T= (p.Phe18=) | |
| MT | m.14799T>A | CA913172118 | MT-CYB | c.53T>A (p.Phe18Tyr) | |
| MT | m.14799T>C | CA913172119 | MT-CYB | c.53T>C (p.Phe18Ser) | dbSNP |
| MT | m.14799T>G | CA913172120 | MT-CYB | c.53T>G (p.Phe18Cys) | |
| MT | m.14799T= | CA2499568655 | MT-CYB | c.53T= (p.Phe18=) | |
| MT | m.14800C>A | CA913172121 | MT-CYB | c.54C>A (p.Phe18Leu) | |
| MT | m.14800C= | CA2499568656 | MT-CYB | c.54C= (p.Phe18=) | |
| MT | m.14800C>G | CA913172122 | MT-CYB | c.54C>G (p.Phe18Leu) | |
| MT | m.14800C>T | CA270600 | MT-CYB | c.54C>T (p.Phe18=) | ClinVar dbSNP |
| MT | m.14801A= | CA2573327928 | MT-CYB | c.55A= (p.Ile19=) | |
| MT | m.14801A>C | CA913172123 | MT-CYB | c.55A>C (p.Ile19Leu) | |
| MT | m.14801A>G | CA913172124 | MT-CYB | c.55A>G (p.Ile19Val) | |
| MT | m.14801A>T | CA913172125 | MT-CYB | c.55A>T (p.Ile19Phe) | |
| MT | m.14802T>A | CA913172128 | MT-CYB | c.56T>A (p.Ile19Asn) | |
| MT | m.14802T>C | CA913172127 | MT-CYB | c.56T>C (p.Ile19Thr) | |
| MT | m.14802T>G | CA913172126 | MT-CYB | c.56T>G (p.Ile19Ser) | |
| MT | m.14802T= | CA2573327930 | MT-CYB | c.56T= (p.Ile19=) | |
| MT | m.14803C>A | CA913172130 | MT-CYB | c.57C>A (p.Ile19=) | |
| MT | m.14803C= | CA2499568657 | MT-CYB | c.57C= (p.Ile19=) | |
| MT | m.14803C>G | CA913172129 | MT-CYB | c.57C>G (p.Ile19Met) | |
| MT | m.14803C>T | CA337100168 | MT-CYB | c.57C>T (p.Ile19=) | dbSNP |
| MT | m.14804G>A | CA913172133 | MT-CYB | c.58G>A (p.Asp20Asn) | ClinVar dbSNP |
| MT | m.14804G>C | CA913172132 | MT-CYB | c.58G>C (p.Asp20His) | |
| MT | m.14804G= | CA2499568658 | MT-CYB | c.58G= (p.Asp20=) | |
| MT | m.14804G>T | CA913172131 | MT-CYB | c.58G>T (p.Asp20Tyr) | |
| MT | m.14805A= | CA2573327936 | MT-CYB | c.59A= (p.Asp20=) | |
| MT | m.14805A>C | CA913172135 | MT-CYB | c.59A>C (p.Asp20Ala) | |
| MT | m.14805A>G | CA913172134 | MT-CYB | c.59A>G (p.Asp20Gly) | |
| MT | m.14805A>T | CA913172136 | MT-CYB | c.59A>T (p.Asp20Val) | |
| MT | m.14806C>A | CA913172137 | MT-CYB | c.60C>A (p.Asp20Glu) | |
| MT | m.14806C= | CA2573327938 | MT-CYB | c.60C= (p.Asp20=) | |
| MT | m.14806C>G | CA913172138 | MT-CYB | c.60C>G (p.Asp20Glu) | |
| MT | m.14806C>T | CA913172139 | MT-CYB | c.60C>T (p.Asp20=) | |
| MT | m.14807C>A | CA913172140 | MT-CYB | c.61C>A (p.Leu21Ile) | |
| MT | m.14807C= | CA2573327940 | MT-CYB | c.61C= (p.Leu21=) | |
| MT | m.14807C>G | CA913172141 | MT-CYB | c.61C>G (p.Leu21Val) | |
| MT | m.14807C>T | CA913172142 | MT-CYB | c.61C>T (p.Leu21Phe) | |
| MT | m.14808T>A | CA913172145 | MT-CYB | c.62T>A (p.Leu21His) | |
| MT | m.14808T>C | CA913172144 | MT-CYB | c.62T>C (p.Leu21Pro) | |
| MT | m.14808T>G | CA913172143 | MT-CYB | c.62T>G (p.Leu21Arg) | |
| MT | m.14808T= | CA2573327942 | MT-CYB | c.62T= (p.Leu21=) | |
| MT | m.14809C>A | CA913172148 | MT-CYB | c.63C>A (p.Leu21=) | |
| MT | m.14809C= | CA2499568659 | MT-CYB | c.63C= (p.Leu21=) | |
| MT | m.14809C>G | CA913172147 | MT-CYB | c.63C>G (p.Leu21=) | |
| MT | m.14809C>T | CA913172146 | MT-CYB | c.63C>T (p.Leu21=) | dbSNP |
| MT | m.14812dup | CA2740098397 | MT-CYB | c.66dup (p.Thr23HisfsTer?) | |
| MT | m.14810C>A | CA913172149 | MT-CYB | c.64C>A (p.Pro22Thr) | |
| MT | m.14810C= | CA2573327946 | MT-CYB | c.64C= (p.Pro22=) | |
| MT | m.14810C>G | CA913172150 | MT-CYB | c.64C>G (p.Pro22Ala) | |
| MT | m.14810C>T | CA913172151 | MT-CYB | c.64C>T (p.Pro22Ser) | |
| MT | m.14811C>A | CA913172152 | MT-CYB | c.65C>A (p.Pro22His) | |
| MT | m.14811C= | CA2573327947 | MT-CYB | c.65C= (p.Pro22=) | |
| MT | m.14811C>G | CA913172153 | MT-CYB | c.65C>G (p.Pro22Arg) | |
| MT | m.14811C>T | CA913172154 | MT-CYB | c.65C>T (p.Pro22Leu) | |
| MT | m.14812C>A | CA913172157 | MT-CYB | c.66C>A (p.Pro22=) | dbSNP |
| MT | m.14812C= | CA2499568660 | MT-CYB | c.66C= (p.Pro22=) | |
| MT | m.14812C>G | CA913172156 | MT-CYB | c.66C>G (p.Pro22=) | |
| MT | m.14812C>T | CA913172155 | MT-CYB | c.66C>T (p.Pro22=) | dbSNP |
| MT | m.14813A= | CA2499568661 | MT-CYB | c.67A= (p.Thr23=) | |
| MT | m.14813A>C | CA913172158 | MT-CYB | c.67A>C (p.Thr23Pro) | |
| MT | m.14813A>G | CA913172159 | MT-CYB | c.67A>G (p.Thr23Ala) | dbSNP |
| MT | m.14813A>T | CA913172160 | MT-CYB | c.67A>T (p.Thr23Ser) | ClinVar dbSNP |
| MT | m.14814C>A | CA913172163 | MT-CYB | c.68C>A (p.Thr23Asn) | |
| MT | m.14814C= | CA2499568662 | MT-CYB | c.68C= (p.Thr23=) | |
| MT | m.14814C>G | CA913172162 | MT-CYB | c.68C>G (p.Thr23Ser) | |
| MT | m.14814C>T | CA913172161 | MT-CYB | c.68C>T (p.Thr23Ile) | dbSNP |
| MT | m.14817dup | CA2740098398 | MT-CYB | c.71dup (p.Ser25IlefsTer?) | |
| MT | m.14817del | CA2573105319 | MT-CYB | c.71del (p.Pro24HisfsTer18) | |
| MT | m.14815C>A | CA913172166 | MT-CYB | c.69C>A (p.Thr23=) | |
| MT | m.14815C= | CA2499568663 | MT-CYB | c.69C= (p.Thr23=) | |
| MT | m.14815C>G | CA913172165 | MT-CYB | c.69C>G (p.Thr23=) | |
| MT | m.14815C>T | CA913172164 | MT-CYB | c.69C>T (p.Thr23=) | dbSNP |
| MT | m.14816C>A | CA913172169 | MT-CYB | c.70C>A (p.Pro24Thr) | |
| MT | m.14816C= | CA2573327960 | MT-CYB | c.70C= (p.Pro24=) | |
| MT | m.14816C>G | CA913172168 | MT-CYB | c.70C>G (p.Pro24Ala) | |
| MT | m.14816C>T | CA913172167 | MT-CYB | c.70C>T (p.Pro24Ser) | |
| MT | m.14817C>A | CA913172171 | MT-CYB | c.71C>A (p.Pro24Gln) | |
| MT | m.14817C= | CA2573327962 | MT-CYB | c.71C= (p.Pro24=) | |
| MT | m.14817C>G | CA913172172 | MT-CYB | c.71C>G (p.Pro24Arg) | |
| MT | m.14817C>T | CA913172170 | MT-CYB | c.71C>T (p.Pro24Leu) | |
| MT | m.14818A= | CA2499568664 | MT-CYB | c.72A= (p.Pro24=) | |
| MT | m.14818A>C | CA913172175 | MT-CYB | c.72A>C (p.Pro24=) | |
| MT | m.14818A>G | CA913172174 | MT-CYB | c.72A>G (p.Pro24=) | dbSNP |
| MT | m.14818A>T | CA913172173 | MT-CYB | c.72A>T (p.Pro24=) | |
| MT | m.14819T>A | CA913172177 | MT-CYB | c.73T>A (p.Ser25Thr) | |
| MT | m.14819T>C | CA913172176 | MT-CYB | c.73T>C (p.Ser25Pro) | dbSNP |
| MT | m.14819T>G | CA913172178 | MT-CYB | c.73T>G (p.Ser25Ala) | |
| MT | m.14819T= | CA2573327965 | MT-CYB | c.73T= (p.Ser25=) | |
| MT | m.14820C>A | CA913172179 | MT-CYB | c.74C>A (p.Ser25Tyr) | |
| MT | m.14820C= | CA2573327968 | MT-CYB | c.74C= (p.Ser25=) | |
| MT | m.14820C>G | CA913172180 | MT-CYB | c.74C>G (p.Ser25Cys) | |
| MT | m.14820C>T | CA913172181 | MT-CYB | c.74C>T (p.Ser25Phe) | |
| MT | m.14821C>A | CA913172184 | MT-CYB | c.75C>A (p.Ser25=) | |
| MT | m.14821C= | CA2499568665 | MT-CYB | c.75C= (p.Ser25=) | |
| MT | m.14821C>G | CA913172183 | MT-CYB | c.75C>G (p.Ser25=) | |
| MT | m.14821C>T | CA913172182 | MT-CYB | c.75C>T (p.Ser25=) | dbSNP |
| MT | m.14822A= | CA2573327974 | MT-CYB | c.76A= (p.Asn26=) | |
| MT | m.14822A>C | CA913172185 | MT-CYB | c.76A>C (p.Asn26His) | |
| MT | m.14822A>G | CA913172187 | MT-CYB | c.76A>G (p.Asn26Asp) | |
| MT | m.14822A>T | CA913172186 | MT-CYB | c.76A>T (p.Asn26Tyr) | |
| MT | m.14823A= | CA2573327977 | MT-CYB | c.77A= (p.Asn26=) | |
| MT | m.14823A>C | CA913172190 | MT-CYB | c.77A>C (p.Asn26Thr) | |
| MT | m.14823A>G | CA913172189 | MT-CYB | c.77A>G (p.Asn26Ser) | |
| MT | m.14823A>T | CA913172188 | MT-CYB | c.77A>T (p.Asn26Ile) | |
| MT | m.14824C>A | CA913172193 | MT-CYB | c.78C>A (p.Asn26Lys) | |
| MT | m.14824C= | CA2499568666 | MT-CYB | c.78C= (p.Asn26=) | |
| MT | m.14824C>G | CA913172192 | MT-CYB | c.78C>G (p.Asn26Lys) | |
| MT | m.14824C>T | CA913172191 | MT-CYB | c.78C>T (p.Asn26=) | dbSNP |
| MT | m.14825A= | CA2499568667 | MT-CYB | c.79A= (p.Ile27=) | |
| MT | m.14825A>C | CA913172196 | MT-CYB | c.79A>C (p.Ile27Leu) | |
| MT | m.14825A>G | CA913172195 | MT-CYB | c.79A>G (p.Ile27Val) | ClinVar dbSNP |
| MT | m.14825A>T | CA913172194 | MT-CYB | c.79A>T (p.Ile27Phe) | |
| MT | m.14826T>A | CA913172197 | MT-CYB | c.80T>A (p.Ile27Asn) | |
| MT | m.14826T>C | CA913172199 | MT-CYB | c.80T>C (p.Ile27Thr) | ClinVar dbSNP |
| MT | m.14826T>G | CA913172198 | MT-CYB | c.80T>G (p.Ile27Ser) | |
| MT | m.14826T= | CA2499568668 | MT-CYB | c.80T= (p.Ile27=) | |
| MT | m.14827C>A | CA913172202 | MT-CYB | c.81C>A (p.Ile27=) | |
| MT | m.14827C= | CA2499568669 | MT-CYB | c.81C= (p.Ile27=) | |
| MT | m.14827C>G | CA913172201 | MT-CYB | c.81C>G (p.Ile27Met) | |
| MT | m.14827C>T | CA913172200 | MT-CYB | c.81C>T (p.Ile27=) | dbSNP |
| MT | m.14828T>A | CA913172203 | MT-CYB | c.82T>A (p.Ser28Thr) | |
| MT | m.14828T>C | CA913172204 | MT-CYB | c.82T>C (p.Ser28Pro) | |
| MT | m.14828T>G | CA913172205 | MT-CYB | c.82T>G (p.Ser28Ala) | |
| MT | m.14828T= | CA2573327986 | MT-CYB | c.82T= (p.Ser28=) | |
| MT | m.14829C>A | CA913172206 | MT-CYB | c.83C>A (p.Ser28Tyr) | |
| MT | m.14829C= | CA2573327988 | MT-CYB | c.83C= (p.Ser28=) | |
| MT | m.14829C>G | CA913172207 | MT-CYB | c.83C>G (p.Ser28Cys) | |
| MT | m.14829C>T | CA913172208 | MT-CYB | c.83C>T (p.Ser28Phe) | |
| MT | m.14830C>A | CA913172211 | MT-CYB | c.84C>A (p.Ser28=) | |
| MT | m.14830C= | CA2499568670 | MT-CYB | c.84C= (p.Ser28=) | |
| MT | m.14830C>G | CA913172209 | MT-CYB | c.84C>G (p.Ser28=) | |
| MT | m.14830C>T | CA913172210 | MT-CYB | c.84C>T (p.Ser28=) | dbSNP |
| MT | m.14831G>A | CA344826 | MT-CYB | c.85G>A (p.Ala29Thr) | ClinVar dbSNP |
| MT | m.14831G>C | CA913172213 | MT-CYB | c.85G>C (p.Ala29Pro) | ClinVar dbSNP |
| MT | m.14831G= | CA2499568671 | MT-CYB | c.85G= (p.Ala29=) | |
| MT | m.14831G>T | CA913172212 | MT-CYB | c.85G>T (p.Ala29Ser) | |
| MT | m.14832C>A | CA913172214 | MT-CYB | c.86C>A (p.Ala29Glu) | |
| MT | m.14832C= | CA2499568672 | MT-CYB | c.86C= (p.Ala29=) | |
| MT | m.14832C>G | CA913172215 | MT-CYB | c.86C>G (p.Ala29Gly) | |
| MT | m.14832C>T | CA913172216 | MT-CYB | c.86C>T (p.Ala29Val) | ClinVar dbSNP |
| MT | m.14833A= | CA2573328000 | MT-CYB | c.87A= (p.Ala29=) | |
| MT | m.14833A>C | CA913172217 | MT-CYB | c.87A>C (p.Ala29=) | |
| MT | m.14833A>G | CA913172218 | MT-CYB | c.87A>G (p.Ala29=) | |
| MT | m.14833A>T | CA913172219 | MT-CYB | c.87A>T (p.Ala29=) | |
| MT | m.14834T>A | CA913172222 | MT-CYB | c.88T>A (p.Ter30Arg) | |
| MT | m.14834T>C | CA913172220 | MT-CYB | c.88T>C (p.Ter30Arg) | |
| MT | m.14834T>G | CA913172221 | MT-CYB | c.88T>G (p.Ter30Gly) | |
| MT | m.14834T= | CA2573328002 | MT-CYB | c.88T= (p.Ter30=) | |
| MT | m.14835G>A | CA913172225 | MT-CYB | c.89G>A (p.Ter30=) | |
| MT | m.14835G>C | CA913172224 | MT-CYB | c.89G>C (p.Ter30Ser) | |
| MT | m.14835G= | CA2513307348 | MT-CYB | c.89G= (p.Ter30=) | |
| MT | m.14835G>T | CA913172223 | MT-CYB | c.89G>T (p.Ter30Leu) | |
| MT | m.14836A= | CA2499568673 | MT-CYB | c.90A= (p.Ter30=) | |
| MT | m.14836A>C | CA913172226 | MT-CYB | c.90A>C (p.Ter30Cys) | |
| MT | m.14836A>G | CA913172227 | MT-CYB | c.90A>G (p.Ter30Trp) | dbSNP |
| MT | m.14836A>T | CA913172228 | MT-CYB | c.90A>T (p.Ter30Cys) | |
| MT | m.14837T>A | CA913172230 | MT-CYB | c.91T>A (p.Ter31Arg) | |
| MT | m.14837T>C | CA913172231 | MT-CYB | c.91T>C (p.Ter31Arg) | |
| MT | m.14837T>G | CA913172229 | MT-CYB | c.91T>G (p.Ter31Gly) | |
| MT | m.14837T= | CA2573328005 | MT-CYB | c.91T= (p.Ter31=) | |
| MT | m.14838G>A | CA645611435 | MT-CYB | c.92G>A (p.Ter31=) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.14838G>C | CA913172233 | MT-CYB | c.92G>C (p.Ter31Ser) | |
| MT | m.14838G= | CA2499568674 | MT-CYB | c.92G= (p.Ter31=) | |
| MT | m.14838G>T | CA913172232 | MT-CYB | c.92G>T (p.Ter31Leu) | |
| MT | m.14839A= | CA2499568675 | MT-CYB | c.93A= (p.Ter31=) | |
| MT | m.14839A>C | CA913172236 | MT-CYB | c.93A>C (p.Ter31Cys) | |
| MT | m.14839A>G | CA913172235 | MT-CYB | c.93A>G (p.Ter31Trp) | dbSNP |
| MT | m.14839A>T | CA913172234 | MT-CYB | c.93A>T (p.Ter31Cys) | |
| MT | m.14840A= | CA2573328010 | MT-CYB | c.94A= (p.Asn32=) | |
| MT | m.14840A>C | CA913172239 | MT-CYB | c.94A>C (p.Asn32His) | |
| MT | m.14840A>G | CA913172238 | MT-CYB | c.94A>G (p.Asn32Asp) | dbSNP |
| MT | m.14840A>T | CA913172237 | MT-CYB | c.94A>T (p.Asn32Tyr) | |
| MT | m.14841A= | CA2499568676 | MT-CYB | c.95A= (p.Asn32=) | |
| MT | m.14841A>C | CA913172240 | MT-CYB | c.95A>C (p.Asn32Thr) | |
| MT | m.14841A>G | CA913172241 | MT-CYB | c.95A>G (p.Asn32Ser) | ClinVar dbSNP |
| MT | m.14841A>T | CA913172242 | MT-CYB | c.95A>T (p.Asn32Ile) | |
| MT | m.14842C>A | CA913172245 | MT-CYB | c.96C>A (p.Asn32Lys) | |
| MT | m.14842C= | CA2573328012 | MT-CYB | c.96C= (p.Asn32=) | |
| MT | m.14842C>G | CA913172243 | MT-CYB | c.96C>G (p.Asn32Lys) | |
| MT | m.14842C>T | CA913172244 | MT-CYB | c.96C>T (p.Asn32=) | |
| MT | m.14843T>A | CA913172248 | MT-CYB | c.97T>A (p.Phe33Ile) | |
| MT | m.14843T>C | CA913172247 | MT-CYB | c.97T>C (p.Phe33Leu) | dbSNP |
| MT | m.14843T>G | CA913172246 | MT-CYB | c.97T>G (p.Phe33Val) | |
| MT | m.14843T= | CA2499568677 | MT-CYB | c.97T= (p.Phe33=) | |
| MT | m.14844T>A | CA913172251 | MT-CYB | c.98T>A (p.Phe33Tyr) | |
| MT | m.14844T>C | CA913172250 | MT-CYB | c.98T>C (p.Phe33Ser) | |
| MT | m.14844T>G | CA913172249 | MT-CYB | c.98T>G (p.Phe33Cys) | |
| MT | m.14844T= | CA2513050976 | MT-CYB | c.98T= (p.Phe33=) | |
| MT | m.14845C>A | CA913172252 | MT-CYB | c.99C>A (p.Phe33Leu) | |
| MT | m.14845C= | CA2573328015 | MT-CYB | c.99C= (p.Phe33=) | |
| MT | m.14845C>G | CA913172253 | MT-CYB | c.99C>G (p.Phe33Leu) | |
| MT | m.14845C>T | CA913172254 | MT-CYB | c.99C>T (p.Phe33=) | dbSNP |
| MT | m.14846G>A | CA120617 | MT-CYB | c.100G>A (p.Gly34Ser) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.14846G>C | CA913172256 | MT-CYB | c.100G>C (p.Gly34Arg) | |
| MT | m.14846G= | CA2499568678 | MT-CYB | c.100G= (p.Gly34=) | |
| MT | m.14846G>T | CA913172255 | MT-CYB | c.100G>T (p.Gly34Cys) | |
| MT | m.14847G>A | CA645611436 | MT-CYB | c.101G>A (p.Gly34Asp) | COSMIC COSMIC |
| MT | m.14847G>C | CA913172257 | MT-CYB | c.101G>C (p.Gly34Ala) | |
| MT | m.14847G= | CA2573328023 | MT-CYB | c.101G= (p.Gly34=) | |
| MT | m.14847G>T | CA913172258 | MT-CYB | c.101G>T (p.Gly34Val) | |
| MT | m.14848C>A | CA913172259 | MT-CYB | c.102C>A (p.Gly34=) | |
| MT | m.14848C= | CA2499568679 | MT-CYB | c.102C= (p.Gly34=) | |
| MT | m.14848C>G | CA913172260 | MT-CYB | c.102C>G (p.Gly34=) | |
| MT | m.14848C>T | CA913172261 | MT-CYB | c.102C>T (p.Gly34=) | dbSNP |
| MT | m.14848_14855del | CA2740098399 | MT-CYB | c.102_109del (p.Ser35TrpfsTer?) | |
| MT | m.14849T>A | CA913172263 | MT-CYB | c.103T>A (p.Ser35Thr) | |
| MT | m.14849T>C | CA120623 | MT-CYB | c.103T>C (p.Ser35Pro) | ClinVar dbSNP |
| MT | m.14849T>G | CA913172262 | MT-CYB | c.103T>G (p.Ser35Ala) | |
| MT | m.14849T= | CA2499568680 | MT-CYB | c.103T= (p.Ser35=) | |
| MT | m.14850C>A | CA913172264 | MT-CYB | c.104C>A (p.Ser35Ter) | |
| MT | m.14850C= | CA2573328029 | MT-CYB | c.104C= (p.Ser35=) | |
| MT | m.14850C>G | CA913172265 | MT-CYB | c.104C>G (p.Ser35Ter) | |
| MT | m.14850C>T | CA913172266 | MT-CYB | c.104C>T (p.Ser35Leu) | |
| MT | m.14851A= | CA2499568681 | MT-CYB | c.105A= (p.Ser35=) | |
| MT | m.14851A>C | CA913172267 | MT-CYB | c.105A>C (p.Ser35=) | |
| MT | m.14851A>G | CA913172268 | MT-CYB | c.105A>G (p.Ser35=) | |
| MT | m.14851A>T | CA913172269 | MT-CYB | c.105A>T (p.Ser35=) | dbSNP |