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.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=) | |
| MT | m.4126C>A | CA337096801 | MT-ND1 | c.820C>A (p.Arg274=) | dbSNP |
| MT | m.4126C= | CA2499563742 | MT-ND1 | c.820C= (p.Arg274=) | |
| MT | m.4126C>G | CA414774243 | MT-ND1 | c.820C>G (p.Arg274Gly) | |
| MT | m.4126C>T | CA414774244 | MT-ND1 | c.820C>T (p.Arg274Ter) | |
| MT | m.4127G>A | CA414774245 | MT-ND1 | c.821G>A (p.Arg274Gln) | dbSNP |
| MT | m.4127G>C | CA414774246 | MT-ND1 | c.821G>C (p.Arg274Pro) | |
| MT | m.4127G= | CA2573329294 | MT-ND1 | c.821G= (p.Arg274=) | |
| MT | m.4127G>T | CA414774247 | MT-ND1 | c.821G>T (p.Arg274Leu) | |
| MT | m.4128A= | CA2573329298 | MT-ND1 | c.822A= (p.Arg274=) | |
| MT | m.4128A>C | CA913176983 | MT-ND1 | c.822A>C (p.Arg274=) | |
| MT | m.4128A>G | CA913176981 | MT-ND1 | c.822A>G (p.Arg274=) | |
| MT | m.4128A>T | CA913176982 | MT-ND1 | c.822A>T (p.Arg274=) | |
| MT | m.4129A= | CA2499563743 | MT-ND1 | c.823A= (p.Thr275=) | |
| MT | m.4129A>C | CA414774249 | MT-ND1 | c.823A>C (p.Thr275Pro) | |
| MT | m.4129A>G | CA337096803 | MT-ND1 | c.823A>G (p.Thr275Ala) | ClinVar dbSNP |
| MT | m.4129A>T | CA414774248 | MT-ND1 | c.823A>T (p.Thr275Ser) | |
| MT | m.4130C>A | CA414774250 | MT-ND1 | c.824C>A (p.Thr275Lys) | |
| MT | m.4130C= | CA2573329303 | MT-ND1 | c.824C= (p.Thr275=) | |
| MT | m.4130C>G | CA414774251 | MT-ND1 | c.824C>G (p.Thr275Arg) | |
| MT | m.4130C>T | CA414774252 | MT-ND1 | c.824C>T (p.Thr275Ile) | |
| MT | m.4131A= | CA2499563744 | MT-ND1 | c.825A= (p.Thr275=) | |
| MT | m.4131A>C | CA913176985 | MT-ND1 | c.825A>C (p.Thr275=) | dbSNP |
| MT | m.4131A>G | CA913176986 | MT-ND1 | c.825A>G (p.Thr275=) | dbSNP |
| MT | m.4131A>T | CA913176988 | MT-ND1 | c.825A>T (p.Thr275=) | |
| MT | m.4132G>A | CA16603348 | MT-ND1 | c.826G>A (p.Ala276Thr) | ClinVar dbSNP |
| MT | m.4132G>C | CA414774253 | MT-ND1 | c.826G>C (p.Ala276Pro) | |
| MT | m.4132G= | CA2499563745 | MT-ND1 | c.826G= (p.Ala276=) | |
| MT | m.4132G>T | CA414774254 | MT-ND1 | c.826G>T (p.Ala276Ser) | |
| MT | m.4132_4133insGGAGGTTAGAAGTAGGGTCTTGGTGA | CA2573104431 | MT-ND1 | c.826_827insGGAGGTTAGAAGTAGGGTCTTGGTGA (p.Ala276GlyfsTer9) | |
| MT | m.4133C>A | CA414774255 | MT-ND1 | c.827C>A (p.Ala276Glu) | |
| MT | m.4133C= | CA2573329309 | MT-ND1 | c.827C= (p.Ala276=) | |
| MT | m.4133C>G | CA414774256 | MT-ND1 | c.827C>G (p.Ala276Gly) | |
| MT | m.4133C>T | CA414774257 | MT-ND1 | c.827C>T (p.Ala276Val) | |
| MT | m.4134A= | CA2499563746 | MT-ND1 | c.828A= (p.Ala276=) | |
| MT | m.4134A>C | CA913176996 | MT-ND1 | c.828A>C (p.Ala276=) | dbSNP |
| MT | m.4134A>G | CA913176997 | MT-ND1 | c.828A>G (p.Ala276=) | |
| MT | m.4134A>T | CA913176994 | MT-ND1 | c.828A>T (p.Ala276=) | |
| MT | m.4134_4135insAAATATGTTGTG | CA2573104432 | MT-ND1 | c.828_829insAAATATGTTGTG (p.Ala276_Tyr277insLysTyrValVal) | |
| MT | m.4135T>A | CA414774259 | MT-ND1 | c.829T>A (p.Tyr277Asn) | |
| MT | m.4135T>C | CA10581199 | MT-ND1 | c.829T>C (p.Tyr277His) | ClinVar dbSNP |
| MT | m.4135T>G | CA414774258 | MT-ND1 | c.829T>G (p.Tyr277Asp) | |
| MT | m.4135T= | CA2499563747 | MT-ND1 | c.829T= (p.Tyr277=) | |
| MT | m.4136A= | CA2499563748 | MT-ND1 | c.830A= (p.Tyr277=) | |
| MT | m.4136A>C | CA414774260 | MT-ND1 | c.830A>C (p.Tyr277Ser) | |
| MT | m.4136A>G | CA254860 | MT-ND1 | c.830A>G (p.Tyr277Cys) | ClinVar dbSNP |
| MT | m.4136A>T | CA414774261 | MT-ND1 | c.830A>T (p.Tyr277Phe) | |
| MT | m.4137C>A | CA414774262 | MT-ND1 | c.831C>A (p.Tyr277Ter) | |
| MT | m.4137C= | CA2499563749 | MT-ND1 | c.831C= (p.Tyr277=) | |
| MT | m.4137C>G | CA414774263 | MT-ND1 | c.831C>G (p.Tyr277Ter) | |
| MT | m.4137C>T | CA337096807 | MT-ND1 | c.831C>T (p.Tyr277=) | ClinVar dbSNP |
| MT | m.4137_4141del | CA2573104435 | MT-ND1 | c.831_835del (p.Tyr277Ter) | |
| MT | m.4141dup | CA2573104433 | MT-ND1 | c.835dup (p.Arg279ProfsTer?) | |
| MT | m.4138C>A | CA414774264 | MT-ND1 | c.832C>A (p.Pro278Thr) | |
| MT | m.4138C= | CA2573329317 | MT-ND1 | c.832C= (p.Pro278=) | |
| MT | m.4138C>G | CA414774265 | MT-ND1 | c.832C>G (p.Pro278Ala) | |
| MT | m.4138C>T | CA414774266 | MT-ND1 | c.832C>T (p.Pro278Ser) | |
| MT | m.4139C>A | CA414774267 | MT-ND1 | c.833C>A (p.Pro278His) | |
| MT | m.4139C= | CA2573329318 | MT-ND1 | c.833C= (p.Pro278=) | |
| MT | m.4139C>G | CA414774268 | MT-ND1 | c.833C>G (p.Pro278Arg) | |
| MT | m.4139C>T | CA414774269 | MT-ND1 | c.833C>T (p.Pro278Leu) | |
| MT | m.4140C>A | CA913177010 | MT-ND1 | c.834C>A (p.Pro278=) | |
| MT | m.4140C= | CA2499563750 | MT-ND1 | c.834C= (p.Pro278=) | |
| MT | m.4140C>G | CA913177011 | MT-ND1 | c.834C>G (p.Pro278=) | |
| MT | m.4140C>T | CA913177013 | MT-ND1 | c.834C>T (p.Pro278=) | dbSNP |
| MT | m.4141C>A | CA913177014 | MT-ND1 | c.835C>A (p.Arg279=) | |
| MT | m.4141C= | CA2573329319 | MT-ND1 | c.835C= (p.Arg279=) | |
| MT | m.4141C>G | CA414774270 | MT-ND1 | c.835C>G (p.Arg279Gly) | |
| MT | m.4141C>T | CA414774271 | MT-ND1 | c.835C>T (p.Arg279Ter) | |
| MT | m.4142G>A | CA414774272 | MT-ND1 | c.836G>A (p.Arg279Gln) | ClinVar dbSNP |
| MT | m.4142G>C | CA414774273 | MT-ND1 | c.836G>C (p.Arg279Pro) | |
| MT | m.4142G= | CA2499563751 | MT-ND1 | c.836G= (p.Arg279=) | |
| MT | m.4142G>T | CA414774274 | MT-ND1 | c.836G>T (p.Arg279Leu) | |
| MT | m.4143A= | CA2499563752 | MT-ND1 | c.837A= (p.Arg279=) | |
| MT | m.4143A>C | CA913177018 | MT-ND1 | c.837A>C (p.Arg279=) | |
| MT | m.4143A>G | CA913177019 | MT-ND1 | c.837A>G (p.Arg279=) | dbSNP |
| MT | m.4143A>T | CA913177020 | MT-ND1 | c.837A>T (p.Arg279=) | |
| MT | m.4143_4144insG | CA2573104451 | MT-ND1 | c.837_838insG (p.Phe280ValfsTer?) | |
| MT | m.4144T>A | CA414774275 | MT-ND1 | c.838T>A (p.Phe280Ile) | |
| MT | m.4144T>C | CA414774276 | MT-ND1 | c.838T>C (p.Phe280Leu) | dbSNP |
| MT | m.4144T>G | CA414774277 | MT-ND1 | c.838T>G (p.Phe280Val) | |
| MT | m.4144T= | CA2499563753 | MT-ND1 | c.838T= (p.Phe280=) | |
| MT | m.4145T>A | CA414774278 | MT-ND1 | c.839T>A (p.Phe280Tyr) | |
| MT | m.4145T>C | CA414774279 | MT-ND1 | c.839T>C (p.Phe280Ser) | |
| MT | m.4145T>G | CA414774280 | MT-ND1 | c.839T>G (p.Phe280Cys) | |
| MT | m.4145T= | CA2573329326 | MT-ND1 | c.839T= (p.Phe280=) | |
| MT | m.4146C>A | CA414774281 | MT-ND1 | c.840C>A (p.Phe280Leu) | |
| MT | m.4146C= | CA2573329329 | MT-ND1 | c.840C= (p.Phe280=) | |
| MT | m.4146C>G | CA414774282 | MT-ND1 | c.840C>G (p.Phe280Leu) | |
| MT | m.4146C>T | CA913177022 | MT-ND1 | c.840C>T (p.Phe280=) | |
| MT | m.4146_4147insAGGGGAGAGTG | CA2573104452 | MT-ND1 | c.840_841insAGGGGAGAGTG (p.Tyr282GlyfsTer21) | |
| MT | m.4147C>A | CA414774285 | MT-ND1 | c.841C>A (p.Arg281Ser) | |
| MT | m.4147C= | CA2573329332 | MT-ND1 | c.841C= (p.Arg281=) | |
| MT | m.4147C>G | CA414774284 | MT-ND1 | c.841C>G (p.Arg281Gly) | |
| MT | m.4147C>T | CA414774283 | MT-ND1 | c.841C>T (p.Arg281Cys) | |
| MT | m.4148G>A | CA414774286 | MT-ND1 | c.842G>A (p.Arg281His) | ClinVar dbSNP |
| MT | m.4148G>C | CA414774288 | MT-ND1 | c.842G>C (p.Arg281Pro) | |
| MT | m.4148G= | CA2499563754 | MT-ND1 | c.842G= (p.Arg281=) | |
| MT | m.4148G>T | CA414774287 | MT-ND1 | c.842G>T (p.Arg281Leu) | |
| MT | m.4148_4149insTCATATGTTGTTC | CA2573104453 | MT-ND1 | c.842_843insTCATATGTTGTTC (p.Tyr282HisfsTer?) | |
| MT | m.4149C>A | CA913177025 | MT-ND1 | c.843C>A (p.Arg281=) | |
| MT | m.4149C= | CA2573329339 | MT-ND1 | c.843C= (p.Arg281=) | |
| MT | m.4149C>G | CA913177029 | MT-ND1 | c.843C>G (p.Arg281=) | |
| MT | m.4149C>T | CA913177024 | MT-ND1 | c.843C>T (p.Arg281=) | |
| MT | m.4150T>A | CA414774289 | MT-ND1 | c.844T>A (p.Tyr282Asn) | |
| MT | m.4150T>C | CA414774290 | MT-ND1 | c.844T>C (p.Tyr282His) | |
| MT | m.4150T>G | CA414774291 | MT-ND1 | c.844T>G (p.Tyr282Asp) | |
| MT | m.4150T= | CA2573329341 | MT-ND1 | c.844T= (p.Tyr282=) | |
| MT | m.4151A= | CA2573329344 | MT-ND1 | c.845A= (p.Tyr282=) | |
| MT | m.4151A>C | CA414774292 | MT-ND1 | c.845A>C (p.Tyr282Ser) | |
| MT | m.4151A>G | CA414774293 | MT-ND1 | c.845A>G (p.Tyr282Cys) | |
| MT | m.4151A>T | CA414774294 | MT-ND1 | c.845A>T (p.Tyr282Phe) | |
| MT | m.4152C>A | CA414774295 | MT-ND1 | c.846C>A (p.Tyr282Ter) | |
| MT | m.4152C= | CA2573329346 | MT-ND1 | c.846C= (p.Tyr282=) | |
| MT | m.4152C>G | CA414774296 | MT-ND1 | c.846C>G (p.Tyr282Ter) | |
| MT | m.4152C>T | CA913177032 | MT-ND1 | c.846C>T (p.Tyr282=) | |
| MT | m.4153G>A | CA337096809 | MT-ND1 | c.847G>A (p.Asp283Asn) | ClinVar dbSNP COSMIC COSMIC |
| MT | m.4153G>C | CA414774297 | MT-ND1 | c.847G>C (p.Asp283His) | |
| MT | m.4153G= | CA2499563755 | MT-ND1 | c.847G= (p.Asp283=) | |
| MT | m.4153G>T | CA414774298 | MT-ND1 | c.847G>T (p.Asp283Tyr) | |
| MT | m.4154A= | CA2573329348 | MT-ND1 | c.848A= (p.Asp283=) | |
| MT | m.4154A>C | CA414774301 | MT-ND1 | c.848A>C (p.Asp283Ala) | |
| MT | m.4154A>G | CA414774299 | MT-ND1 | c.848A>G (p.Asp283Gly) | |
| MT | m.4154A>T | CA414774300 | MT-ND1 | c.848A>T (p.Asp283Val) | |
| MT | m.4155C>A | CA414774302 | MT-ND1 | c.849C>A (p.Asp283Glu) | |
| MT | m.4155C= | CA2499563756 | MT-ND1 | c.849C= (p.Asp283=) | |
| MT | m.4155C>G | CA414774303 | MT-ND1 | c.849C>G (p.Asp283Glu) | |
| MT | m.4155C>T | CA913177037 | MT-ND1 | c.849C>T (p.Asp283=) | dbSNP |
| MT | m.4155_4156del | CA2573104454 | MT-ND1 | c.849_850del (p.Asp283GlufsTer?) | |
| MT | m.4156C>A | CA414774304 | MT-ND1 | c.850C>A (p.Gln284Lys) | |
| MT | m.4156C= | CA2573329352 | MT-ND1 | c.850C= (p.Gln284=) | |
| MT | m.4156C>G | CA414774305 | MT-ND1 | c.850C>G (p.Gln284Glu) | |
| MT | m.4156C>T | CA414774306 | MT-ND1 | c.850C>T (p.Gln284Ter) | |
| MT | m.4157A= | CA2499563757 | MT-ND1 | c.851A= (p.Gln284=) | |
| MT | m.4157A>C | CA414774307 | MT-ND1 | c.851A>C (p.Gln284Pro) | |
| MT | m.4157A>G | CA414774308 | MT-ND1 | c.851A>G (p.Gln284Arg) | dbSNP |
| MT | m.4157A>T | CA414774309 | MT-ND1 | c.851A>T (p.Gln284Leu) | |
| MT | m.4157_4158insG | CA2573104455 | MT-ND1 | c.851_852insG (p.Leu285ThrfsTer?) | |
| MT | m.4158A= | CA2499563758 | MT-ND1 | c.852A= (p.Gln284=) | |
| MT | m.4158A>C | CA414774310 | MT-ND1 | c.852A>C (p.Gln284His) | |
| MT | m.4158A>G | CA913177041 | MT-ND1 | c.852A>G (p.Gln284=) | ClinVar dbSNP |
| MT | m.4158A>T | CA414774311 | MT-ND1 | c.852A>T (p.Gln284His) | |
| MT | m.4159C>A | CA414774314 | MT-ND1 | c.853C>A (p.Leu285Ile) | |
| MT | m.4159C= | CA2573329358 | MT-ND1 | c.853C= (p.Leu285=) | |
| MT | m.4159C>G | CA414774313 | MT-ND1 | c.853C>G (p.Leu285Val) | |
| MT | m.4159C>T | CA414774312 | MT-ND1 | c.853C>T (p.Leu285Phe) | |
| MT | m.4160T>A | CA414774315 | MT-ND1 | c.854T>A (p.Leu285His) | |
| MT | m.4160T>C | CA340942 | MT-ND1 | c.854T>C (p.Leu285Pro) | ClinVar dbSNP |
| MT | m.4160T>G | CA414774316 | MT-ND1 | c.854T>G (p.Leu285Arg) | |
| MT | m.4160T= | CA2499563759 | MT-ND1 | c.854T= (p.Leu285=) | |
| MT | m.4160_4161insG | CA2573104456 | MT-ND1 | c.854_855insG (p.Ile286HisfsTer?) | |
| MT | m.4161C>A | CA913177047 | MT-ND1 | c.855C>A (p.Leu285=) | |
| MT | m.4161C= | CA2499563760 | MT-ND1 | c.855C= (p.Leu285=) | |
| MT | m.4161C>G | CA913177045 | MT-ND1 | c.855C>G (p.Leu285=) | |
| MT | m.4161C>T | CA913177049 | MT-ND1 | c.855C>T (p.Leu285=) | dbSNP |
| MT | m.4162A= | CA2573329362 | MT-ND1 | c.856A= (p.Ile286=) | |
| MT | m.4162A>C | CA414774317 | MT-ND1 | c.856A>C (p.Ile286Leu) | |
| MT | m.4162A>G | CA414774318 | MT-ND1 | c.856A>G (p.Ile286Val) | |
| MT | m.4162A>T | CA414774319 | MT-ND1 | c.856A>T (p.Ile286Leu) | |
| MT | m.4162_4163insGTGGTGAGGGTGTTTATTATAATAATGTTTATG | CA2573104457 | MT-ND1 | c.856_857insGTGGTGAGGGTGTTTATTATAATAATGTTTATG (p.Ile286delinsSerGlyGluGlyValTyrTyrAsnAsnValTyrVal) | |
| MT | m.4163T>A | CA414774320 | MT-ND1 | c.857T>A (p.Ile286Lys) | |
| MT | m.4163T>C | CA414774321 | MT-ND1 | c.857T>C (p.Ile286Thr) | dbSNP |
| MT | m.4163T>G | CA414774322 | MT-ND1 | c.857T>G (p.Ile286Arg) | |
| MT | m.4163T= | CA2499563761 | MT-ND1 | c.857T= (p.Ile286=) | |
| MT | m.4164A= | CA2499563762 | MT-ND1 | c.858A= (p.Ile286=) | |
| MT | m.4164A>C | CA337096814 | MT-ND1 | c.858A>C (p.Ile286=) | |
| MT | m.4164A>G | CA414774323 | MT-ND1 | c.858A>G (p.Ile286Met) | dbSNP |
| MT | m.4164A>T | CA337096812 | MT-ND1 | c.858A>T (p.Ile286=) |