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.4023_4025del | CA2573104412 | MT-ND1 | c.717_719del (p.Thr240del) | |
| MT | m.4025C>A | CA337096766 | MT-ND1 | c.719C>A (p.Thr240Lys) | |
| MT | m.4025C= | CA2499563701 | MT-ND1 | c.719C= (p.Thr240=) | |
| MT | m.4025C>G | CA337096764 | MT-ND1 | c.719C>G (p.Thr240Arg) | |
| MT | m.4025C>T | CA344829 | MT-ND1 | c.719C>T (p.Thr240Ile) | ClinVar dbSNP |
| MT | m.4026A= | CA2499563702 | MT-ND1 | c.720A= (p.Thr240=) | |
| MT | m.4026A>C | CA913176804 | MT-ND1 | c.720A>C (p.Thr240=) | |
| MT | m.4026A>G | CA913176805 | MT-ND1 | c.720A>G (p.Thr240=) | dbSNP |
| MT | m.4026A>T | CA913176806 | MT-ND1 | c.720A>T (p.Thr240=) | |
| MT | m.4027A= | CA2573329094 | MT-ND1 | c.721A= (p.Ile241=) | |
| MT | m.4027A>C | CA414774029 | MT-ND1 | c.721A>C (p.Ile241Leu) | |
| MT | m.4027A>G | CA414774030 | MT-ND1 | c.721A>G (p.Ile241Val) | |
| MT | m.4027A>T | CA414774031 | MT-ND1 | c.721A>T (p.Ile241Phe) | |
| MT | m.4028T>A | CA414774032 | MT-ND1 | c.722T>A (p.Ile241Asn) | |
| MT | m.4028T>C | CA414774033 | MT-ND1 | c.722T>C (p.Ile241Thr) | dbSNP |
| MT | m.4028T>G | CA414774034 | MT-ND1 | c.722T>G (p.Ile241Ser) | |
| MT | m.4028T= | CA2499563703 | MT-ND1 | c.722T= (p.Ile241=) | |
| MT | m.4029C>A | CA913176820 | MT-ND1 | c.723C>A (p.Ile241=) | ClinVar dbSNP |
| MT | m.4029C= | CA2499563704 | MT-ND1 | c.723C= (p.Ile241=) | |
| MT | m.4029C>G | CA414774035 | MT-ND1 | c.723C>G (p.Ile241Met) | |
| MT | m.4029C>T | CA913176821 | MT-ND1 | c.723C>T (p.Ile241=) | dbSNP |
| MT | m.4030T>A | CA414774038 | MT-ND1 | c.724T>A (p.Phe242Ile) | |
| MT | m.4030T>C | CA414774037 | MT-ND1 | c.724T>C (p.Phe242Leu) | |
| MT | m.4030T>G | CA414774036 | MT-ND1 | c.724T>G (p.Phe242Val) | |
| MT | m.4030T= | CA2573329101 | MT-ND1 | c.724T= (p.Phe242=) | |
| MT | m.4031T>A | CA414774039 | MT-ND1 | c.725T>A (p.Phe242Tyr) | |
| MT | m.4031T>C | CA414774040 | MT-ND1 | c.725T>C (p.Phe242Ser) | |
| MT | m.4031T>G | CA414774041 | MT-ND1 | c.725T>G (p.Phe242Cys) | |
| MT | m.4031T= | CA2573329104 | MT-ND1 | c.725T= (p.Phe242=) | |
| MT | m.4032C>A | CA414774042 | MT-ND1 | c.726C>A (p.Phe242Leu) | |
| MT | m.4032C= | CA2573329107 | MT-ND1 | c.726C= (p.Phe242=) | |
| MT | m.4032C>G | CA414774043 | MT-ND1 | c.726C>G (p.Phe242Leu) | |
| MT | m.4032C>T | CA913176836 | MT-ND1 | c.726C>T (p.Phe242=) | |
| MT | m.4033C>A | CA414774044 | MT-ND1 | c.727C>A (p.Leu243Ile) | |
| MT | m.4033C= | CA2499563705 | MT-ND1 | c.727C= (p.Leu243=) | |
| MT | m.4033C>G | CA414774045 | MT-ND1 | c.727C>G (p.Leu243Val) | |
| MT | m.4033C>T | CA913176837 | MT-ND1 | c.727C>T (p.Leu243=) | dbSNP |
| MT | m.4034T>A | CA414774046 | MT-ND1 | c.728T>A (p.Leu243Gln) | |
| MT | m.4034T>C | CA414774047 | MT-ND1 | c.728T>C (p.Leu243Pro) | |
| MT | m.4034T>G | CA414774048 | MT-ND1 | c.728T>G (p.Leu243Arg) | |
| MT | m.4034T= | CA2573329111 | MT-ND1 | c.728T= (p.Leu243=) | |
| MT | m.4035A= | CA2499563706 | MT-ND1 | c.729A= (p.Leu243=) | |
| MT | m.4035A>C | CA913176839 | MT-ND1 | c.729A>C (p.Leu243=) | |
| MT | m.4035A>G | CA913176840 | MT-ND1 | c.729A>G (p.Leu243=) | dbSNP |
| MT | m.4035A>T | CA913176838 | MT-ND1 | c.729A>T (p.Leu243=) | |
| MT | m.4036G>A | CA414774049 | MT-ND1 | c.730G>A (p.Gly244Arg) | |
| MT | m.4036G>C | CA414774050 | MT-ND1 | c.730G>C (p.Gly244Arg) | |
| MT | m.4036G= | CA2573329112 | MT-ND1 | c.730G= (p.Gly244=) | |
| MT | m.4036G>T | CA414774051 | MT-ND1 | c.730G>T (p.Gly244Ter) | |
| MT | m.4037G>A | CA414774052 | MT-ND1 | c.731G>A (p.Gly244Glu) | |
| MT | m.4037G>C | CA414774054 | MT-ND1 | c.731G>C (p.Gly244Ala) | |
| MT | m.4037G= | CA2512988485 | MT-ND1 | c.731G= (p.Gly244=) | |
| MT | m.4037G>T | CA414774053 | MT-ND1 | c.731G>T (p.Gly244Val) | |
| MT | m.4038A= | CA2499563707 | MT-ND1 | c.732A= (p.Gly244=) | |
| MT | m.4038A>C | CA913176841 | MT-ND1 | c.732A>C (p.Gly244=) | |
| MT | m.4038A>G | CA913176842 | MT-ND1 | c.732A>G (p.Gly244=) | dbSNP |
| MT | m.4038A>T | CA913176843 | MT-ND1 | c.732A>T (p.Gly244=) | |
| MT | m.4039_4044del | CA2573104414 | MT-ND1 | c.733_738del (p.Thr245_Thr246del) | |
| MT | m.4039A= | CA2573329113 | MT-ND1 | c.733A= (p.Thr245=) | |
| MT | m.4039A>C | CA414774055 | MT-ND1 | c.733A>C (p.Thr245Pro) | |
| MT | m.4039A>G | CA414774056 | MT-ND1 | c.733A>G (p.Thr245Ala) | |
| MT | m.4039A>T | CA414774057 | MT-ND1 | c.733A>T (p.Thr245Ser) | |
| MT | m.4040C>A | CA414774058 | MT-ND1 | c.734C>A (p.Thr245Lys) | |
| MT | m.4040C= | CA2573329114 | MT-ND1 | c.734C= (p.Thr245=) | |
| MT | m.4040C>G | CA414774059 | MT-ND1 | c.734C>G (p.Thr245Arg) | |
| MT | m.4040C>T | CA414774060 | MT-ND1 | c.734C>T (p.Thr245Ile) | |
| MT | m.4040_4041insTTTT | CA2573104415 | MT-ND1 | c.734_735insTTTT (p.Thr246PhefsTer4) | |
| MT | m.4041A= | CA2573329115 | MT-ND1 | c.735A= (p.Thr245=) | |
| MT | m.4041A>C | CA913176845 | MT-ND1 | c.735A>C (p.Thr245=) | |
| MT | m.4041A>G | CA913176844 | MT-ND1 | c.735A>G (p.Thr245=) | |
| MT | m.4041A>T | CA913176846 | MT-ND1 | c.735A>T (p.Thr245=) | |
| MT | m.4042A= | CA2499563708 | MT-ND1 | c.736A= (p.Thr246=) | |
| MT | m.4042A>C | CA414774061 | MT-ND1 | c.736A>C (p.Thr246Pro) | |
| MT | m.4042A>G | CA414774062 | MT-ND1 | c.736A>G (p.Thr246Ala) | dbSNP |
| MT | m.4042A>T | CA414774063 | MT-ND1 | c.736A>T (p.Thr246Ser) | |
| MT | m.4042_4043insT | CA2573104417 | MT-ND1 | c.736_737insT (p.Thr246IlefsTer3) | |
| MT | m.4043C>A | CA414774066 | MT-ND1 | c.737C>A (p.Thr246Lys) | |
| MT | m.4043C= | CA2573329118 | MT-ND1 | c.737C= (p.Thr246=) | |
| MT | m.4043C>G | CA414774065 | MT-ND1 | c.737C>G (p.Thr246Arg) | |
| MT | m.4043C>T | CA414774064 | MT-ND1 | c.737C>T (p.Thr246Ile) | |
| MT | m.4043_4045del | CA2573104416 | MT-ND1 | c.737_739del (p.Thr246_Tyr247delinsAsn) | |
| MT | m.4044A= | CA2499563709 | MT-ND1 | c.738A= (p.Thr246=) | |
| MT | m.4044A>C | CA913176847 | MT-ND1 | c.738A>C (p.Thr246=) | |
| MT | m.4044A>G | CA913176848 | MT-ND1 | c.738A>G (p.Thr246=) | dbSNP |
| MT | m.4044A>T | CA913176849 | MT-ND1 | c.738A>T (p.Thr246=) | |
| MT | m.4045T>A | CA414774067 | MT-ND1 | c.739T>A (p.Tyr247Asn) | |
| MT | m.4045T>C | CA414774069 | MT-ND1 | c.739T>C (p.Tyr247His) | |
| MT | m.4045T>G | CA414774068 | MT-ND1 | c.739T>G (p.Tyr247Asp) | |
| MT | m.4045T= | CA2573329122 | MT-ND1 | c.739T= (p.Tyr247=) | |
| MT | m.4045_4046insTTTTTA | CA2573104418 | MT-ND1 | c.739_740insTTTTTA (p.Tyr247delinsPhePheAsn) | |
| MT | m.4046A= | CA2573329124 | MT-ND1 | c.740A= (p.Tyr247=) | |
| MT | m.4046A>C | CA414774070 | MT-ND1 | c.740A>C (p.Tyr247Ser) | |
| MT | m.4046A>G | CA414774071 | MT-ND1 | c.740A>G (p.Tyr247Cys) | |
| MT | m.4046A>T | CA414774072 | MT-ND1 | c.740A>T (p.Tyr247Phe) | |
| MT | m.4047T>A | CA414774073 | MT-ND1 | c.741T>A (p.Tyr247Ter) | |
| MT | m.4047T>C | CA337096769 | MT-ND1 | c.741T>C (p.Tyr247=) | dbSNP |
| MT | m.4047T>G | CA414774074 | MT-ND1 | c.741T>G (p.Tyr247Ter) | |
| MT | m.4047T= | CA2499563710 | MT-ND1 | c.741T= (p.Tyr247=) | |
| MT | m.4048G>A | CA337096771 | MT-ND1 | c.742G>A (p.Asp248Asn) | ClinVar dbSNP |
| MT | m.4048G>C | CA414774075 | MT-ND1 | c.742G>C (p.Asp248His) | |
| MT | m.4048G= | CA2499563711 | MT-ND1 | c.742G= (p.Asp248=) | |
| MT | m.4048G>T | CA414774076 | MT-ND1 | c.742G>T (p.Asp248Tyr) | |
| MT | m.4049A= | CA2573329127 | MT-ND1 | c.743A= (p.Asp248=) | |
| MT | m.4049A>C | CA414774079 | MT-ND1 | c.743A>C (p.Asp248Ala) | |
| MT | m.4049A>G | CA414774078 | MT-ND1 | c.743A>G (p.Asp248Gly) | |
| MT | m.4049A>T | CA414774077 | MT-ND1 | c.743A>T (p.Asp248Val) | |
| MT | m.4049_4050insTACGG | CA2573104420 | MT-ND1 | c.743_744insTACGG (p.Ala249ThrfsTer20) | |
| MT | m.4050C>A | CA414774080 | MT-ND1 | c.744C>A (p.Asp248Glu) | |
| MT | m.4050C= | CA2499563712 | MT-ND1 | c.744C= (p.Asp248=) | |
| MT | m.4050C>G | CA414774081 | MT-ND1 | c.744C>G (p.Asp248Glu) | |
| MT | m.4050C>T | CA913176856 | MT-ND1 | c.744C>T (p.Asp248=) | dbSNP |
| MT | m.4051G>A | CA414774082 | MT-ND1 | c.745G>A (p.Ala249Thr) | dbSNP |
| MT | m.4051G>C | CA414774083 | MT-ND1 | c.745G>C (p.Ala249Pro) | |
| MT | m.4051G= | CA2573329131 | MT-ND1 | c.745G= (p.Ala249=) | |
| MT | m.4051G>T | CA414774084 | MT-ND1 | c.745G>T (p.Ala249Ser) | |
| MT | m.4052del | CA2573104422 | MT-ND1 | c.746del (p.Ala249AspfsTer18) | |
| MT | m.4052C>A | CA414774085 | MT-ND1 | c.746C>A (p.Ala249Glu) | |
| MT | m.4052C= | CA2573329133 | MT-ND1 | c.746C= (p.Ala249=) | |
| MT | m.4052C>G | CA414774086 | MT-ND1 | c.746C>G (p.Ala249Gly) | |
| MT | m.4052C>T | CA414774087 | MT-ND1 | c.746C>T (p.Ala249Val) | |
| MT | m.4053A= | CA2499563713 | MT-ND1 | c.747A= (p.Ala249=) | |
| MT | m.4053A>C | CA913176857 | MT-ND1 | c.747A>C (p.Ala249=) | |
| MT | m.4053A>G | CA913176858 | MT-ND1 | c.747A>G (p.Ala249=) | dbSNP |
| MT | m.4053A>T | CA913176859 | MT-ND1 | c.747A>T (p.Ala249=) | dbSNP |
| MT | m.4053_4055del | CA2573104423 | MT-ND1 | c.747_749del (p.Leu250del) | |
| MT | m.4054C>A | CA414774088 | MT-ND1 | c.748C>A (p.Leu250Ile) | |
| MT | m.4054C= | CA2573329135 | MT-ND1 | c.748C= (p.Leu250=) | |
| MT | m.4054C>G | CA414774089 | MT-ND1 | c.748C>G (p.Leu250Val) | |
| MT | m.4054C>T | CA414774090 | MT-ND1 | c.748C>T (p.Leu250Phe) | |
| MT | m.4055del | CA2573104424 | MT-ND1 | c.749del (p.Leu250ProfsTer17) | |
| MT | m.4055T>A | CA414774092 | MT-ND1 | c.749T>A (p.Leu250His) | dbSNP |
| MT | m.4055T>C | CA414774093 | MT-ND1 | c.749T>C (p.Leu250Pro) | ClinVar dbSNP |
| MT | m.4055T>G | CA414774091 | MT-ND1 | c.749T>G (p.Leu250Arg) | |
| MT | m.4055T= | CA2499563714 | MT-ND1 | c.749T= (p.Leu250=) | |
| MT | m.4055_4057del | CA2573104425 | MT-ND1 | c.749_751del (p.Leu250_Ser251delinsPro) | |
| MT | m.4056C>A | CA913176862 | MT-ND1 | c.750C>A (p.Leu250=) | |
| MT | m.4056C= | CA2499563715 | MT-ND1 | c.750C= (p.Leu250=) | |
| MT | m.4056C>G | CA913176860 | MT-ND1 | c.750C>G (p.Leu250=) | |
| MT | m.4056C>T | CA913176861 | MT-ND1 | c.750C>T (p.Leu250=) | dbSNP |
| MT | m.4057T>A | CA414774094 | MT-ND1 | c.751T>A (p.Ser251Thr) | |
| MT | m.4057T>C | CA414774095 | MT-ND1 | c.751T>C (p.Ser251Pro) | |
| MT | m.4057T>G | CA414774096 | MT-ND1 | c.751T>G (p.Ser251Ala) | |
| MT | m.4057T= | CA2573329144 | MT-ND1 | c.751T= (p.Ser251=) | |
| MT | m.4058C>A | CA414774097 | MT-ND1 | c.752C>A (p.Ser251Tyr) | |
| MT | m.4058C= | CA2499563716 | MT-ND1 | c.752C= (p.Ser251=) | |
| MT | m.4058C>G | CA414774098 | MT-ND1 | c.752C>G (p.Ser251Cys) | |
| MT | m.4058C>T | CA414774099 | MT-ND1 | c.752C>T (p.Ser251Phe) | ClinVar dbSNP |
| MT | m.4059C>A | CA913176863 | MT-ND1 | c.753C>A (p.Ser251=) | dbSNP |
| MT | m.4059C= | CA2499563717 | MT-ND1 | c.753C= (p.Ser251=) | |
| MT | m.4059C>G | CA913176864 | MT-ND1 | c.753C>G (p.Ser251=) | |
| MT | m.4059C>T | CA913176865 | MT-ND1 | c.753C>T (p.Ser251=) | dbSNP |
| MT | m.4060C>A | CA414774100 | MT-ND1 | c.754C>A (p.Pro252Thr) | |
| MT | m.4060C= | CA2573329150 | MT-ND1 | c.754C= (p.Pro252=) | |
| MT | m.4060C>G | CA414774101 | MT-ND1 | c.754C>G (p.Pro252Ala) | |
| MT | m.4060C>T | CA414774102 | MT-ND1 | c.754C>T (p.Pro252Ser) | |
| MT | m.4060_4062del | CA2573104426 | MT-ND1 | c.754_756del (p.Pro252del) | |
| MT | m.4061C>A | CA414774103 | MT-ND1 | c.755C>A (p.Pro252His) | |
| MT | m.4061C= | CA2573329155 | MT-ND1 | c.755C= (p.Pro252=) | |
| MT | m.4061C>G | CA414774104 | MT-ND1 | c.755C>G (p.Pro252Arg) | |
| MT | m.4061C>T | CA414774105 | MT-ND1 | c.755C>T (p.Pro252Leu) | |
| MT | m.4062del | CA2573104427 | MT-ND1 | c.756del (p.Glu253AsnfsTer14) | |
| MT | m.4062T>A | CA913176868 | MT-ND1 | c.756T>A (p.Pro252=) | |
| MT | m.4062T>C | CA913176867 | MT-ND1 | c.756T>C (p.Pro252=) | dbSNP |
| MT | m.4062T>G | CA913176866 | MT-ND1 | c.756T>G (p.Pro252=) | |
| MT | m.4062T= | CA2499563718 | MT-ND1 | c.756T= (p.Pro252=) | |
| MT | m.4063G>A | CA414774108 | MT-ND1 | c.757G>A (p.Glu253Lys) | dbSNP |
| MT | m.4063G>C | CA414774106 | MT-ND1 | c.757G>C (p.Glu253Gln) | |
| MT | m.4063G= | CA2573329159 | MT-ND1 | c.757G= (p.Glu253=) | |
| MT | m.4063G>T | CA414774107 | MT-ND1 | c.757G>T (p.Glu253Ter) | |
| MT | m.4064A= | CA2573329163 | MT-ND1 | c.758A= (p.Glu253=) | |
| MT | m.4064A>C | CA414774109 | MT-ND1 | c.758A>C (p.Glu253Ala) | |
| MT | m.4064A>G | CA414774110 | MT-ND1 | c.758A>G (p.Glu253Gly) | |
| MT | m.4064A>T | CA414774111 | MT-ND1 | c.758A>T (p.Glu253Val) | |
| MT | m.4065A= | CA2499563719 | MT-ND1 | c.759A= (p.Glu253=) | |
| MT | m.4065A>C | CA337096773 | MT-ND1 | c.759A>C (p.Glu253Asp) | |
| MT | m.4065A>G | CA337096777 | MT-ND1 | c.759A>G (p.Glu253=) | dbSNP |
| MT | m.4065A>T | CA337096775 | MT-ND1 | c.759A>T (p.Glu253Asp) | |
| MT | m.4066C>A | CA414774112 | MT-ND1 | c.760C>A (p.Leu254Ile) | |
| MT | m.4066C= | CA2573329169 | MT-ND1 | c.760C= (p.Leu254=) | |
| MT | m.4066C>G | CA414774113 | MT-ND1 | c.760C>G (p.Leu254Val) | |
| MT | m.4066C>T | CA414774114 | MT-ND1 | c.760C>T (p.Leu254Phe) | |
| MT | m.4067T>A | CA414774115 | MT-ND1 | c.761T>A (p.Leu254His) | |
| MT | m.4067T>C | CA414774116 | MT-ND1 | c.761T>C (p.Leu254Pro) | dbSNP |
| MT | m.4067T>G | CA414774117 | MT-ND1 | c.761T>G (p.Leu254Arg) | |
| MT | m.4067T= | CA2499563720 | MT-ND1 | c.761T= (p.Leu254=) | |
| MT | m.4068C>A | CA913176871 | MT-ND1 | c.762C>A (p.Leu254=) | |
| MT | m.4068C= | CA2573329172 | MT-ND1 | c.762C= (p.Leu254=) | |
| MT | m.4068C>G | CA913176870 | MT-ND1 | c.762C>G (p.Leu254=) | |
| MT | m.4068C>T | CA913176869 | MT-ND1 | c.762C>T (p.Leu254=) | |
| MT | m.4069T>A | CA414774120 | MT-ND1 | c.763T>A (p.Tyr255Asn) | |
| MT | m.4069T>C | CA414774118 | MT-ND1 | c.763T>C (p.Tyr255His) | |
| MT | m.4069T>G | CA414774119 | MT-ND1 | c.763T>G (p.Tyr255Asp) | |
| MT | m.4069T= | CA2573329173 | MT-ND1 | c.763T= (p.Tyr255=) | |
| MT | m.4070A= | CA2573329176 | MT-ND1 | c.764A= (p.Tyr255=) | |
| MT | m.4070A>C | CA414774121 | MT-ND1 | c.764A>C (p.Tyr255Ser) | |
| MT | m.4070A>G | CA414774123 | MT-ND1 | c.764A>G (p.Tyr255Cys) | |
| MT | m.4070A>T | CA414774122 | MT-ND1 | c.764A>T (p.Tyr255Phe) | |
| MT | m.4071C>A | CA337096779 | MT-ND1 | c.765C>A (p.Tyr255Ter) | |
| MT | m.4071C= | CA2499563721 | MT-ND1 | c.765C= (p.Tyr255=) | |
| MT | m.4071C>G | CA337096781 | MT-ND1 | c.765C>G (p.Tyr255Ter) | |
| MT | m.4071C>T | CA337096783 | MT-ND1 | c.765C>T (p.Tyr255=) | dbSNP |
| MT | m.4072A= | CA2573329182 | MT-ND1 | c.766A= (p.Thr256=) | |
| MT | m.4072A>C | CA414774124 | MT-ND1 | c.766A>C (p.Thr256Pro) | |
| MT | m.4072A>G | CA414774126 | MT-ND1 | c.766A>G (p.Thr256Ala) | |
| MT | m.4072A>T | CA414774125 | MT-ND1 | c.766A>T (p.Thr256Ser) | |
| MT | m.4073C>A | CA414774127 | MT-ND1 | c.767C>A (p.Thr256Lys) | |
| MT | m.4073C= | CA2573329187 | MT-ND1 | c.767C= (p.Thr256=) | |
| MT | m.4073C>G | CA414774128 | MT-ND1 | c.767C>G (p.Thr256Arg) | |
| MT | m.4073C>T | CA414774129 | MT-ND1 | c.767C>T (p.Thr256Ile) | |
| MT | m.4074A= | CA2573329194 | MT-ND1 | c.768A= (p.Thr256=) | |
| MT | m.4074A>C | CA913176876 | MT-ND1 | c.768A>C (p.Thr256=) | |
| MT | m.4074A>G | CA913176877 | MT-ND1 | c.768A>G (p.Thr256=) | |
| MT | m.4074A>T | CA913176880 | MT-ND1 | c.768A>T (p.Thr256=) | |
| MT | m.4075A= | CA2573329198 | MT-ND1 | c.769A= (p.Thr257=) | |
| MT | m.4075A>C | CA414774130 | MT-ND1 | c.769A>C (p.Thr257Pro) | |
| MT | m.4075A>G | CA414774131 | MT-ND1 | c.769A>G (p.Thr257Ala) | |
| MT | m.4075A>T | CA414774132 | MT-ND1 | c.769A>T (p.Thr257Ser) | |
| MT | m.4076C>A | CA414774133 | MT-ND1 | c.770C>A (p.Thr257Lys) | |
| MT | m.4076C= | CA2573329201 | MT-ND1 | c.770C= (p.Thr257=) | |
| MT | m.4076C>G | CA414774134 | MT-ND1 | c.770C>G (p.Thr257Arg) | |
| MT | m.4076C>T | CA414774135 | MT-ND1 | c.770C>T (p.Thr257Ile) | |
| MT | m.4077A= | CA2573329204 | MT-ND1 | c.771A= (p.Thr257=) | |
| MT | m.4077A>C | CA913176883 | MT-ND1 | c.771A>C (p.Thr257=) | |
| MT | m.4077A>G | CA913176886 | MT-ND1 | c.771A>G (p.Thr257=) | |
| MT | m.4077A>T | CA913176887 | MT-ND1 | c.771A>T (p.Thr257=) | |
| MT | m.4078T>A | CA414774138 | MT-ND1 | c.772T>A (p.Tyr258Asn) | |
| MT | m.4078T>C | CA414774137 | MT-ND1 | c.772T>C (p.Tyr258His) | |
| MT | m.4078T>G | CA414774136 | MT-ND1 | c.772T>G (p.Tyr258Asp) | |
| MT | m.4078T= | CA2573329207 | MT-ND1 | c.772T= (p.Tyr258=) | |
| MT | m.4079A= | CA2499563722 | MT-ND1 | c.773A= (p.Tyr258=) | |
| MT | m.4079A>C | CA414774139 | MT-ND1 | c.773A>C (p.Tyr258Ser) | |
| MT | m.4079A>G | CA414774140 | MT-ND1 | c.773A>G (p.Tyr258Cys) | ClinVar dbSNP |
| MT | m.4079A>T | CA414774141 | MT-ND1 | c.773A>T (p.Tyr258Phe) | |
| MT | m.4080T>A | CA414774142 | MT-ND1 | c.774T>A (p.Tyr258Ter) | |
| MT | m.4080T>C | CA913176893 | MT-ND1 | c.774T>C (p.Tyr258=) | dbSNP |
| MT | m.4080T>G | CA414774143 | MT-ND1 | c.774T>G (p.Tyr258Ter) | |
| MT | m.4080T= | CA2499563723 | MT-ND1 | c.774T= (p.Tyr258=) | |
| MT | m.4081T>A | CA414774144 | MT-ND1 | c.775T>A (p.Phe259Ile) | |
| MT | m.4081T>C | CA414774145 | MT-ND1 | c.775T>C (p.Phe259Leu) | dbSNP |
| MT | m.4081T>G | CA414774146 | MT-ND1 | c.775T>G (p.Phe259Val) | |
| MT | m.4081T= | CA2499563724 | MT-ND1 | c.775T= (p.Phe259=) | |
| MT | m.4082T>A | CA414774147 | MT-ND1 | c.776T>A (p.Phe259Tyr) | |
| MT | m.4082T>C | CA414774148 | MT-ND1 | c.776T>C (p.Phe259Ser) | ClinVar dbSNP |
| MT | m.4082T>G | CA414774149 | MT-ND1 | c.776T>G (p.Phe259Cys) | |
| MT | m.4082T= | CA2499563725 | MT-ND1 | c.776T= (p.Phe259=) | |
| MT | m.4083T>A | CA414774150 | MT-ND1 | c.777T>A (p.Phe259Leu) | |
| MT | m.4083T>C | CA913176899 | MT-ND1 | c.777T>C (p.Phe259=) | dbSNP |
| MT | m.4083T>G | CA414774151 | MT-ND1 | c.777T>G (p.Phe259Leu) | |
| MT | m.4083T= | CA2499563726 | MT-ND1 | c.777T= (p.Phe259=) | |
| MT | m.4084G>A | CA414774152 | MT-ND1 | c.778G>A (p.Val260Ile) | ClinVar dbSNP |
| MT | m.4084G>C | CA414774153 | MT-ND1 | c.778G>C (p.Val260Leu) | |
| MT | m.4084G= | CA2499563727 | MT-ND1 | c.778G= (p.Val260=) | |
| MT | m.4084G>T | CA414774154 | MT-ND1 | c.778G>T (p.Val260Phe) | |
| MT | m.4085T>A | CA414774155 | MT-ND1 | c.779T>A (p.Val260Asp) | |
| MT | m.4085T>C | CA414774156 | MT-ND1 | c.779T>C (p.Val260Ala) | |
| MT | m.4085T>G | CA414774157 | MT-ND1 | c.779T>G (p.Val260Gly) | |
| MT | m.4085T= | CA2513610542 | MT-ND1 | c.779T= (p.Val260=) | |
| MT | m.4085_4086insTCCTAGGAAGATTGTAGTGGTGAGGGTGTTTATTATAATAATGTTTGTGTATTCGGCTATGAAGAATAGGGCGAAGGGGCCTGCGG | CA2573104428 | MT-ND1 | c.779_780insTCCTAGGAAGATTGTAGTGGTGAGGGTGTTTATTATAATAATGTTTGTGTATTCGGCTATGAAGAATAGGGCGAAGGGGCCTGCGG (p.Thr261ProfsTer35) | |
| MT | m.4086C>A | CA337096785 | MT-ND1 | c.780C>A (p.Val260=) | |
| MT | m.4086C= | CA2499563728 | MT-ND1 | c.780C= (p.Val260=) | |
| MT | m.4086C>G | CA337096787 | MT-ND1 | c.780C>G (p.Val260=) | |
| MT | m.4086C>T | CA913176903 | MT-ND1 | c.780C>T (p.Val260=) | dbSNP |
| MT | m.4087A= | CA2573329231 | MT-ND1 | c.781A= (p.Thr261=) | |
| MT | m.4087A>C | CA414774158 | MT-ND1 | c.781A>C (p.Thr261Pro) | |
| MT | m.4087A>G | CA414774159 | MT-ND1 | c.781A>G (p.Thr261Ala) | |
| MT | m.4087A>T | CA414774160 | MT-ND1 | c.781A>T (p.Thr261Ser) | |
| MT | m.4088C>A | CA414774163 | MT-ND1 | c.782C>A (p.Thr261Asn) | |
| MT | m.4088C= | CA2573329233 | MT-ND1 | c.782C= (p.Thr261=) | |
| MT | m.4088C>G | CA414774161 | MT-ND1 | c.782C>G (p.Thr261Ser) | |
| MT | m.4088C>T | CA414774162 | MT-ND1 | c.782C>T (p.Thr261Ile) | |
| MT | m.4089C>A | CA913176909 | MT-ND1 | c.783C>A (p.Thr261=) | |
| MT | m.4089C= | CA2573329235 | MT-ND1 | c.783C= (p.Thr261=) | |
| MT | m.4089C>G | CA913176908 | MT-ND1 | c.783C>G (p.Thr261=) | |
| MT | m.4089C>T | CA913176907 | MT-ND1 | c.783C>T (p.Thr261=) | dbSNP |
| MT | m.4090A= | CA2573329237 | MT-ND1 | c.784A= (p.Lys262=) | |
| MT | m.4090A>C | CA414774164 | MT-ND1 | c.784A>C (p.Lys262Gln) | |
| MT | m.4090A>G | CA414774165 | MT-ND1 | c.784A>G (p.Lys262Glu) | |
| MT | m.4090A>T | CA414774166 | MT-ND1 | c.784A>T (p.Lys262Ter) | |
| MT | m.4091A= | CA2513225506 | MT-ND1 | c.785A= (p.Lys262=) | |
| MT | m.4091A>C | CA414774167 | MT-ND1 | c.785A>C (p.Lys262Thr) | |
| MT | m.4091A>G | CA414774168 | MT-ND1 | c.785A>G (p.Lys262Arg) | |
| MT | m.4091A>T | CA414774169 | MT-ND1 | c.785A>T (p.Lys262Met) | |
| MT | m.4092G>A | CA645608455 | MT-ND1 | c.786G>A (p.Lys262=) | dbSNP COSMIC COSMIC |
| MT | m.4092G>C | CA414774170 | MT-ND1 | c.786G>C (p.Lys262Asn) | |
| MT | m.4092G= | CA2499563729 | MT-ND1 | c.786G= (p.Lys262=) | |
| MT | m.4092G>T | CA414774171 | MT-ND1 | c.786G>T (p.Lys262Asn) | |
| MT | m.4093A= | CA2499563730 | MT-ND1 | c.787A= (p.Thr263=) | |
| MT | m.4093A>C | CA414774172 | MT-ND1 | c.787A>C (p.Thr263Pro) | |
| MT | m.4093A>G | CA337096789 | MT-ND1 | c.787A>G (p.Thr263Ala) | ClinVar dbSNP |
| MT | m.4093A>T | CA414774173 | MT-ND1 | c.787A>T (p.Thr263Ser) | |
| MT | m.4094C>A | CA414774176 | MT-ND1 | c.788C>A (p.Thr263Asn) | |
| MT | m.4094C= | CA2499563731 | MT-ND1 | c.788C= (p.Thr263=) | |
| MT | m.4094C>G | CA414774175 | MT-ND1 | c.788C>G (p.Thr263Ser) | |
| MT | m.4094C>T | CA414774174 | MT-ND1 | c.788C>T (p.Thr263Ile) | ClinVar dbSNP |
| MT | m.4095C>A | CA913176918 | MT-ND1 | c.789C>A (p.Thr263=) | |
| MT | m.4095C= | CA2573329245 | MT-ND1 | c.789C= (p.Thr263=) | |
| MT | m.4095C>G | CA913176919 | MT-ND1 | c.789C>G (p.Thr263=) | |
| MT | m.4095C>T | CA913176920 | MT-ND1 | c.789C>T (p.Thr263=) | |
| MT | m.4096C>A | CA414774178 | MT-ND1 | c.790C>A (p.Leu264Ile) | |
| MT | m.4096C= | CA2573329247 | MT-ND1 | c.790C= (p.Leu264=) | |
| MT | m.4096C>G | CA414774177 | MT-ND1 | c.790C>G (p.Leu264Val) | |
| MT | m.4096C>T | CA913176921 | MT-ND1 | c.790C>T (p.Leu264=) | |
| MT | m.4097T>A | CA414774179 | MT-ND1 | c.791T>A (p.Leu264Gln) | |
| MT | m.4097T>C | CA414774180 | MT-ND1 | c.791T>C (p.Leu264Pro) | |
| MT | m.4097T>G | CA414774181 | MT-ND1 | c.791T>G (p.Leu264Arg) | |
| MT | m.4097T= | CA2573329250 | MT-ND1 | c.791T= (p.Leu264=) | |
| MT | m.4098A= | CA2499563732 | MT-ND1 | c.792A= (p.Leu264=) | |
| MT | m.4098A>C | CA913176924 | MT-ND1 | c.792A>C (p.Leu264=) | |
| MT | m.4098A>G | CA913176925 | MT-ND1 | c.792A>G (p.Leu264=) | dbSNP |
| MT | m.4098A>T | CA913176923 | MT-ND1 | c.792A>T (p.Leu264=) | |
| MT | m.4099C>A | CA414774182 | MT-ND1 | c.793C>A (p.Leu265Ile) | |
| MT | m.4099C= | CA2573329251 | MT-ND1 | c.793C= (p.Leu265=) | |
| MT | m.4099C>G | CA414774183 | MT-ND1 | c.793C>G (p.Leu265Val) | |
| MT | m.4099C>T | CA414774184 | MT-ND1 | c.793C>T (p.Leu265Phe) | dbSNP |
| MT | m.4100T>A | CA414774185 | MT-ND1 | c.794T>A (p.Leu265His) | |
| MT | m.4100T>C | CA414774186 | MT-ND1 | c.794T>C (p.Leu265Pro) | |
| MT | m.4100T>G | CA414774187 | MT-ND1 | c.794T>G (p.Leu265Arg) | |
| MT | m.4100T= | CA2573329252 | MT-ND1 | c.794T= (p.Leu265=) | |
| MT | m.4101T>A | CA913176930 | MT-ND1 | c.795T>A (p.Leu265=) | |
| MT | m.4101T>C | CA913176928 | MT-ND1 | c.795T>C (p.Leu265=) | dbSNP |
| MT | m.4101T>G | CA913176929 | MT-ND1 | c.795T>G (p.Leu265=) | |
| MT | m.4101T= | CA2499563733 | MT-ND1 | c.795T= (p.Leu265=) | |
| MT | m.4102C>A | CA414774188 | MT-ND1 | c.796C>A (p.Leu266Ile) | dbSNP |
| MT | m.4102C= | CA2499563734 | MT-ND1 | c.796C= (p.Leu266=) | |
| MT | m.4102C>G | CA414774189 | MT-ND1 | c.796C>G (p.Leu266Val) | |
| MT | m.4102C>T | CA913176931 | MT-ND1 | c.796C>T (p.Leu266=) | dbSNP |
| MT | m.4103T>A | CA414774192 | MT-ND1 | c.797T>A (p.Leu266Gln) | |
| MT | m.4103T>C | CA414774191 | MT-ND1 | c.797T>C (p.Leu266Pro) | |
| MT | m.4103T>G | CA414774190 | MT-ND1 | c.797T>G (p.Leu266Arg) | |
| MT | m.4103T= | CA2573329254 | MT-ND1 | c.797T= (p.Leu266=) | |
| MT | m.4104A= | CA2499563735 | MT-ND1 | c.798A= (p.Leu266=) | |
| MT | m.4104A>C | CA337096795 | MT-ND1 | c.798A>C (p.Leu266=) | |
| MT | m.4104A>G | CA337096793 | MT-ND1 | c.798A>G (p.Leu266=) | dbSNP |
| MT | m.4104A>T | CA337096791 | MT-ND1 | c.798A>T (p.Leu266=) | |
| MT | m.4105A= | CA2499563736 | MT-ND1 | c.799A= (p.Thr267=) | |
| MT | m.4105A>C | CA414774193 | MT-ND1 | c.799A>C (p.Thr267Pro) | |
| MT | m.4105A>G | CA414774194 | MT-ND1 | c.799A>G (p.Thr267Ala) | ClinVar dbSNP |
| MT | m.4105A>T | CA414774195 | MT-ND1 | c.799A>T (p.Thr267Ser) | |
| MT | m.4106C>A | CA414774196 | MT-ND1 | c.800C>A (p.Thr267Asn) | |
| MT | m.4106C= | CA2573329258 | MT-ND1 | c.800C= (p.Thr267=) | |
| MT | m.4106C>G | CA414774197 | MT-ND1 | c.800C>G (p.Thr267Ser) | |
| MT | m.4106C>T | CA414774198 | MT-ND1 | c.800C>T (p.Thr267Ile) | |
| MT | m.4107C>A | CA913176941 | MT-ND1 | c.801C>A (p.Thr267=) | |
| MT | m.4107C= | CA2499563737 | MT-ND1 | c.801C= (p.Thr267=) | |
| MT | m.4107C>G | CA913176943 | MT-ND1 | c.801C>G (p.Thr267=) | |
| MT | m.4107C>T | CA913176944 | MT-ND1 | c.801C>T (p.Thr267=) | dbSNP |
| MT | m.4108T>A | CA414774199 | MT-ND1 | c.802T>A (p.Ser268Thr) | |
| MT | m.4108T>C | CA414774200 | MT-ND1 | c.802T>C (p.Ser268Pro) | |
| MT | m.4108T>G | CA414774201 | MT-ND1 | c.802T>G (p.Ser268Ala) | |
| MT | m.4108T= | CA2573329260 | MT-ND1 | c.802T= (p.Ser268=) | |
| MT | m.4109C>A | CA414774202 | MT-ND1 | c.803C>A (p.Ser268Tyr) | |
| MT | m.4109C= | CA2573329261 | MT-ND1 | c.803C= (p.Ser268=) | |
| MT | m.4109C>G | CA414774204 | MT-ND1 | c.803C>G (p.Ser268Cys) | |
| MT | m.4109C>T | CA414774203 | MT-ND1 | c.803C>T (p.Ser268Phe) | |
| MT | m.4110C>A | CA913176946 | MT-ND1 | c.804C>A (p.Ser268=) | |
| MT | m.4110C= | CA2573329263 | MT-ND1 | c.804C= (p.Ser268=) | |
| MT | m.4110C>G | CA913176948 | MT-ND1 | c.804C>G (p.Ser268=) | |
| MT | m.4110C>T | CA913176950 | MT-ND1 | c.804C>T (p.Ser268=) | |
| MT | m.4111C>A | CA414774205 | MT-ND1 | c.805C>A (p.Leu269Met) | |
| MT | m.4111C= | CA2499563738 | MT-ND1 | c.805C= (p.Leu269=) | |
| MT | m.4111C>G | CA414774206 | MT-ND1 | c.805C>G (p.Leu269Val) | |
| MT | m.4111C>T | CA913176952 | MT-ND1 | c.805C>T (p.Leu269=) | dbSNP |
| MT | m.4112T>A | CA414774207 | MT-ND1 | c.806T>A (p.Leu269Gln) | |
| MT | m.4112T>C | CA414774208 | MT-ND1 | c.806T>C (p.Leu269Pro) | |
| MT | m.4112T>G | CA414774209 | MT-ND1 | c.806T>G (p.Leu269Arg) | |
| MT | m.4112T= | CA2573329268 | MT-ND1 | c.806T= (p.Leu269=) | |
| MT | m.4113G>A | CA337096797 | MT-ND1 | c.807G>A (p.Leu269=) | dbSNP |
| MT | m.4113G>C | CA913176954 | MT-ND1 | c.807G>C (p.Leu269=) | |
| MT | m.4113G= | CA2499563739 | MT-ND1 | c.807G= (p.Leu269=) | |
| MT | m.4113G>T | CA913176953 | MT-ND1 | c.807G>T (p.Leu269=) | |
| MT | m.4114T>A | CA414774210 | MT-ND1 | c.808T>A (p.Phe270Ile) | |
| MT | m.4114T>C | CA414774211 | MT-ND1 | c.808T>C (p.Phe270Leu) | |
| MT | m.4114T>G | CA414774212 | MT-ND1 | c.808T>G (p.Phe270Val) | |
| MT | m.4114T= | CA2573329273 | MT-ND1 | c.808T= (p.Phe270=) | |
| MT | m.4115T>A | CA414774213 | MT-ND1 | c.809T>A (p.Phe270Tyr) | |
| MT | m.4115T>C | CA414774214 | MT-ND1 | c.809T>C (p.Phe270Ser) | |
| MT | m.4115T>G | CA414774215 | MT-ND1 | c.809T>G (p.Phe270Cys) | |
| MT | m.4115T= | CA2573329274 | MT-ND1 | c.809T= (p.Phe270=) | |
| MT | m.4116C>A | CA414774216 | MT-ND1 | c.810C>A (p.Phe270Leu) | |
| MT | m.4116C= | CA2513141116 | MT-ND1 | c.810C= (p.Phe270=) | |
| MT | m.4116C>G | CA414774217 | MT-ND1 | c.810C>G (p.Phe270Leu) | |
| MT | m.4116C>T | CA913176963 | MT-ND1 | c.810C>T (p.Phe270=) | |
| MT | m.4117T>A | CA414774218 | MT-ND1 | c.811T>A (p.Leu271Ile) | |
| MT | m.4117T>C | CA913176964 | MT-ND1 | c.811T>C (p.Leu271=) | dbSNP |
| MT | m.4117T>G | CA414774219 | MT-ND1 | c.811T>G (p.Leu271Val) | |
| MT | m.4117T= | CA2499563740 | MT-ND1 | c.811T= (p.Leu271=) | |
| MT | m.4118T>A | CA414774220 | MT-ND1 | c.812T>A (p.Leu271Ter) | |
| MT | m.4118T>C | CA414774221 | MT-ND1 | c.812T>C (p.Leu271Ser) | COSMIC COSMIC |
| MT | m.4118T>G | CA414774222 | MT-ND1 | c.812T>G (p.Leu271Ter) | |
| MT | m.4118T= | CA2573329279 | MT-ND1 | c.812T= (p.Leu271=) | |
| MT | m.4119A= | CA2573329281 | MT-ND1 | c.813A= (p.Leu271=) | |
| MT | m.4119A>C | CA414774223 | MT-ND1 | c.813A>C (p.Leu271Phe) | |
| MT | m.4119A>G | CA913176967 | MT-ND1 | c.813A>G (p.Leu271=) | |
| MT | m.4119A>T | CA414774224 | MT-ND1 | c.813A>T (p.Leu271Phe) | |
| MT | m.4120T>A | CA414774225 | MT-ND1 | c.814T>A (p.Ter272Arg) | |
| MT | m.4120T>C | CA414774226 | MT-ND1 | c.814T>C (p.Ter272Arg) | |
| MT | m.4120T>G | CA414774227 | MT-ND1 | c.814T>G (p.Ter272Gly) | |
| MT | m.4120T= | CA414774228 | MT-ND1 | c.814T= (p.Ter272=) | |
| MT | m.4121G>A | CA414774232 | MT-ND1 | c.815G>A (p.Ter272=) | dbSNP |
| MT | m.4121G>C | CA414774231 | MT-ND1 | c.815G>C (p.Ter272Ser) | |
| MT | m.4121G= | CA414774229 | MT-ND1 | c.815G= (p.Ter272=) | |
| MT | m.4121G>T | CA414774230 | MT-ND1 | c.815G>T (p.Ter272Leu) | |
| MT | m.4122A= | CA414774234 | MT-ND1 | c.816A= (p.Ter272=) | |
| MT | m.4122A>C | CA414774233 | MT-ND1 | c.816A>C (p.Ter272Cys) | |
| MT | m.4122A>G | CA414774236 | MT-ND1 | c.816A>G (p.Ter272Trp) | dbSNP |
| MT | m.4122A>T | CA414774235 | MT-ND1 | c.816A>T (p.Ter272Cys) | |
| MT | m.4123A= | CA913176972 | MT-ND1 | c.817A= (p.Ile273=) | |
| MT | m.4123A>C | CA414774237 | MT-ND1 | c.817A>C (p.Ile273Leu) | |
| MT | m.4123A>G | CA337096799 | MT-ND1 | c.817A>G (p.Ile273Val) | ClinVar dbSNP |
| MT | m.4123A>T | CA414774238 | MT-ND1 | c.817A>T (p.Ile273Phe) | |
| MT | m.4124T>A | CA414774239 | MT-ND1 | c.818T>A (p.Ile273Asn) | |
| MT | m.4124T>C | CA414774240 | MT-ND1 | c.818T>C (p.Ile273Thr) | dbSNP COSMIC COSMIC |
| MT | m.4124T>G | CA414774241 | MT-ND1 | c.818T>G (p.Ile273Ser) | |
| MT | m.4124T= | CA2499563741 | MT-ND1 | c.818T= (p.Ile273=) | |
| MT | m.4125T>A | CA913176976 | MT-ND1 | c.819T>A (p.Ile273=) | |
| MT | m.4125T>C | CA913176977 | MT-ND1 | c.819T>C (p.Ile273=) | |
| MT | m.4125T>G | CA414774242 | MT-ND1 | c.819T>G (p.Ile273Met) | |
| MT | m.4125T= | CA2573329291 | MT-ND1 | c.819T= (p.Ile273=) |