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.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=) | |
| MT | m.4165C>A | CA414774326 | MT-ND1 | c.859C>A (p.His287Asn) | |
| MT | m.4165C= | CA2499563763 | MT-ND1 | c.859C= (p.His287=) | |
| MT | m.4165C>G | CA414774324 | MT-ND1 | c.859C>G (p.His287Asp) | ClinVar dbSNP |
| MT | m.4165C>T | CA414774325 | MT-ND1 | c.859C>T (p.His287Tyr) | |
| MT | m.4166_4168del | CA2573104458 | MT-ND1 | c.860_862del (p.His287del) | |
| MT | m.4166A= | CA2573329364 | MT-ND1 | c.860A= (p.His287=) | |
| MT | m.4166A>C | CA414774327 | MT-ND1 | c.860A>C (p.His287Pro) | |
| MT | m.4166A>G | CA414774328 | MT-ND1 | c.860A>G (p.His287Arg) | |
| MT | m.4166A>T | CA414774329 | MT-ND1 | c.860A>T (p.His287Leu) | |
| MT | m.4167C>A | CA414774330 | MT-ND1 | c.861C>A (p.His287Gln) | |
| MT | m.4167C= | CA2499563764 | MT-ND1 | c.861C= (p.His287=) | |
| MT | m.4167C>G | CA414774331 | MT-ND1 | c.861C>G (p.His287Gln) | |
| MT | m.4167C>T | CA913177052 | MT-ND1 | c.861C>T (p.His287=) | ClinVar dbSNP |
| MT | m.4168C>A | CA414774332 | MT-ND1 | c.862C>A (p.Leu288Ile) | |
| MT | m.4168C= | CA2573329367 | MT-ND1 | c.862C= (p.Leu288=) | |
| MT | m.4168C>G | CA414774333 | MT-ND1 | c.862C>G (p.Leu288Val) | |
| MT | m.4168C>T | CA414774334 | MT-ND1 | c.862C>T (p.Leu288Phe) | |
| MT | m.4169T>A | CA414774335 | MT-ND1 | c.863T>A (p.Leu288His) | |
| MT | m.4169T>C | CA414774336 | MT-ND1 | c.863T>C (p.Leu288Pro) | |
| MT | m.4169T>G | CA414774337 | MT-ND1 | c.863T>G (p.Leu288Arg) | |
| MT | m.4169T= | CA2513112278 | MT-ND1 | c.863T= (p.Leu288=) | |
| MT | m.4170C>A | CA913177056 | MT-ND1 | c.864C>A (p.Leu288=) | |
| MT | m.4170C= | CA2499563765 | MT-ND1 | c.864C= (p.Leu288=) | |
| MT | m.4170C>G | CA913177058 | MT-ND1 | c.864C>G (p.Leu288=) | |
| MT | m.4170C>T | CA913177059 | MT-ND1 | c.864C>T (p.Leu288=) | dbSNP |
| MT | m.4171C>A | CA340948 | MT-ND1 | c.865C>A (p.Leu289Ile) | ClinVar dbSNP |
| MT | m.4171C= | CA2499563766 | MT-ND1 | c.865C= (p.Leu289=) | |
| MT | m.4171C>G | CA414774338 | MT-ND1 | c.865C>G (p.Leu289Val) | |
| MT | m.4171C>T | CA337096817 | MT-ND1 | c.865C>T (p.Leu289=) | dbSNP |
| MT | m.4172T>A | CA414774339 | MT-ND1 | c.866T>A (p.Leu289Gln) | ClinVar dbSNP |
| MT | m.4172T>C | CA414774341 | MT-ND1 | c.866T>C (p.Leu289Pro) | |
| MT | m.4172T>G | CA414774340 | MT-ND1 | c.866T>G (p.Leu289Arg) | |
| MT | m.4172T= | CA2499563767 | MT-ND1 | c.866T= (p.Leu289=) | |
| MT | m.4173A= | CA2573329379 | MT-ND1 | c.867A= (p.Leu289=) | |
| MT | m.4173A>C | CA913177075 | MT-ND1 | c.867A>C (p.Leu289=) | |
| MT | m.4173A>G | CA913177078 | MT-ND1 | c.867A>G (p.Leu289=) | |
| MT | m.4173A>T | CA913177081 | MT-ND1 | c.867A>T (p.Leu289=) | |
| MT | m.4174T>A | CA414774342 | MT-ND1 | c.868T>A (p.Ter290Arg) | |
| MT | m.4174T>C | CA414774343 | MT-ND1 | c.868T>C (p.Ter290Arg) | |
| MT | m.4174T>G | CA414774344 | MT-ND1 | c.868T>G (p.Ter290Gly) | |
| MT | m.4174T= | CA414774345 | MT-ND1 | c.868T= (p.Ter290=) | |
| MT | m.4175G>A | CA414774346 | MT-ND1 | c.869G>A (p.Ter290=) | |
| MT | m.4175G>C | CA414774347 | MT-ND1 | c.869G>C (p.Ter290Ser) | |
| MT | m.4175G= | CA414774348 | MT-ND1 | c.869G= (p.Ter290=) | |
| MT | m.4175G>T | CA414774349 | MT-ND1 | c.869G>T (p.Ter290Leu) | |
| MT | m.4175_4176delinsGA | CA2499563768 | MT-ND1 | c.869_870delinsGA (p.Ter290=) | |
| MT | m.4176A= | CA414774350 | MT-ND1 | c.870A= (p.Ter290=) | |
| MT | m.4176A>C | CA414774351 | MT-ND1 | c.870A>C (p.Ter290Cys) | |
| MT | m.4176A>G | CA414774352 | MT-ND1 | c.870A>G (p.Ter290Trp) | dbSNP |
| MT | m.4176A>T | CA414774353 | MT-ND1 | c.870A>T (p.Ter290Cys) | |
| MT | m.4181del | CA920599343 | MT-ND1 | c.875del (p.Asn292ThrfsTer7) | dbSNP |
| MT | m.4177A= | CA913177106 | MT-ND1 | c.871A= (p.Lys291=) | |
| MT | m.4177A>C | CA414774356 | MT-ND1 | c.871A>C (p.Lys291Gln) | |
| MT | m.4177A>G | CA414774355 | MT-ND1 | c.871A>G (p.Lys291Glu) | |
| MT | m.4177A>T | CA414774354 | MT-ND1 | c.871A>T (p.Lys291Ter) | |
| MT | m.4178A= | CA2573329385 | MT-ND1 | c.872A= (p.Lys291=) | |
| MT | m.4178A>C | CA414774357 | MT-ND1 | c.872A>C (p.Lys291Thr) | |
| MT | m.4178A>G | CA414774358 | MT-ND1 | c.872A>G (p.Lys291Arg) | |
| MT | m.4178A>T | CA414774359 | MT-ND1 | c.872A>T (p.Lys291Ile) | |
| MT | m.4179A= | CA2573329386 | MT-ND1 | c.873A= (p.Lys291=) | |
| MT | m.4179A>C | CA414774360 | MT-ND1 | c.873A>C (p.Lys291Asn) | |
| MT | m.4179A>G | CA913177114 | MT-ND1 | c.873A>G (p.Lys291=) | |
| MT | m.4179A>T | CA414774361 | MT-ND1 | c.873A>T (p.Lys291Asn) | |
| MT | m.4180A= | CA2499563769 | MT-ND1 | c.874A= (p.Asn292=) | |
| MT | m.4180A>C | CA414774362 | MT-ND1 | c.874A>C (p.Asn292His) | |
| MT | m.4180A>G | CA414774363 | MT-ND1 | c.874A>G (p.Asn292Asp) | ClinVar dbSNP |
| MT | m.4180A>T | CA414774364 | MT-ND1 | c.874A>T (p.Asn292Tyr) | |
| MT | m.4181A= | CA2573329392 | MT-ND1 | c.875A= (p.Asn292=) | |
| MT | m.4181A>C | CA414774365 | MT-ND1 | c.875A>C (p.Asn292Thr) | |
| MT | m.4181A>G | CA414774366 | MT-ND1 | c.875A>G (p.Asn292Ser) | |
| MT | m.4181A>T | CA414774367 | MT-ND1 | c.875A>T (p.Asn292Ile) | |
| MT | m.4182C>A | CA414774368 | MT-ND1 | c.876C>A (p.Asn292Lys) | |
| MT | m.4182C= | CA2499563770 | MT-ND1 | c.876C= (p.Asn292=) | |
| MT | m.4182C>G | CA414774369 | MT-ND1 | c.876C>G (p.Asn292Lys) | |
| MT | m.4182C>T | CA913177128 | MT-ND1 | c.876C>T (p.Asn292=) | dbSNP |
| MT | m.4183T>A | CA414774371 | MT-ND1 | c.877T>A (p.Phe293Ile) | |
| MT | m.4183T>C | CA414774372 | MT-ND1 | c.877T>C (p.Phe293Leu) | |
| MT | m.4183T>G | CA414774370 | MT-ND1 | c.877T>G (p.Phe293Val) | |
| MT | m.4183T= | CA2573329397 | MT-ND1 | c.877T= (p.Phe293=) | |
| MT | m.4184T>A | CA414774373 | MT-ND1 | c.878T>A (p.Phe293Tyr) | |
| MT | m.4184T>C | CA414774374 | MT-ND1 | c.878T>C (p.Phe293Ser) | |
| MT | m.4184T>G | CA414774375 | MT-ND1 | c.878T>G (p.Phe293Cys) | |
| MT | m.4184T= | CA2573329399 | MT-ND1 | c.878T= (p.Phe293=) | |
| MT | m.4185C>A | CA414774376 | MT-ND1 | c.879C>A (p.Phe293Leu) | |
| MT | m.4185C= | CA2573329401 | MT-ND1 | c.879C= (p.Phe293=) | |
| MT | m.4185C>G | CA414774377 | MT-ND1 | c.879C>G (p.Phe293Leu) | |
| MT | m.4185C>T | CA913177139 | MT-ND1 | c.879C>T (p.Phe293=) | dbSNP |
| MT | m.4186C>A | CA414774378 | MT-ND1 | c.880C>A (p.Leu294Ile) | |
| MT | m.4186C= | CA2499563771 | MT-ND1 | c.880C= (p.Leu294=) | |
| MT | m.4186C>G | CA414774379 | MT-ND1 | c.880C>G (p.Leu294Val) | |
| MT | m.4186C>T | CA913177142 | MT-ND1 | c.880C>T (p.Leu294=) | dbSNP |
| MT | m.4187T>A | CA414774380 | MT-ND1 | c.881T>A (p.Leu294Gln) | |
| MT | m.4187T>C | CA414774381 | MT-ND1 | c.881T>C (p.Leu294Pro) | dbSNP |
| MT | m.4187T>G | CA414774382 | MT-ND1 | c.881T>G (p.Leu294Arg) | |
| MT | m.4187T= | CA2499563772 | MT-ND1 | c.881T= (p.Leu294=) | |
| MT | m.4188A= | CA2499563773 | MT-ND1 | c.882A= (p.Leu294=) | |
| MT | m.4188A>C | CA913177166 | MT-ND1 | c.882A>C (p.Leu294=) | |
| MT | m.4188A>G | CA913177161 | MT-ND1 | c.882A>G (p.Leu294=) | dbSNP |
| MT | m.4188A>T | CA913177150 | MT-ND1 | c.882A>T (p.Leu294=) | dbSNP |
| MT | m.4189C>A | CA414774383 | MT-ND1 | c.883C>A (p.Pro295Thr) | |
| MT | m.4189C= | CA2573329405 | MT-ND1 | c.883C= (p.Pro295=) | |
| MT | m.4189C>G | CA414774384 | MT-ND1 | c.883C>G (p.Pro295Ala) | |
| MT | m.4189C>T | CA414774385 | MT-ND1 | c.883C>T (p.Pro295Ser) | |
| MT | m.4190C>A | CA414774386 | MT-ND1 | c.884C>A (p.Pro295Gln) | |
| MT | m.4190C= | CA2573329408 | MT-ND1 | c.884C= (p.Pro295=) | |
| MT | m.4190C>G | CA414774388 | MT-ND1 | c.884C>G (p.Pro295Arg) | |
| MT | m.4190C>T | CA414774387 | MT-ND1 | c.884C>T (p.Pro295Leu) | |
| MT | m.4191A= | CA2573329409 | MT-ND1 | c.885A= (p.Pro295=) | |
| MT | m.4191A>C | CA913177184 | MT-ND1 | c.885A>C (p.Pro295=) | |
| MT | m.4191A>G | CA913177187 | MT-ND1 | c.885A>G (p.Pro295=) | dbSNP |
| MT | m.4191A>T | CA913177188 | MT-ND1 | c.885A>T (p.Pro295=) | |
| MT | m.4192C>A | CA414774389 | MT-ND1 | c.886C>A (p.Leu296Ile) | |
| MT | m.4192C= | CA2573329410 | MT-ND1 | c.886C= (p.Leu296=) | |
| MT | m.4192C>G | CA414774390 | MT-ND1 | c.886C>G (p.Leu296Val) | |
| MT | m.4192C>T | CA414774391 | MT-ND1 | c.886C>T (p.Leu296Phe) | |
| MT | m.4193T>A | CA414774392 | MT-ND1 | c.887T>A (p.Leu296His) | |
| MT | m.4193T>C | CA414774393 | MT-ND1 | c.887T>C (p.Leu296Pro) | ClinVar dbSNP |
| MT | m.4193T>G | CA414774394 | MT-ND1 | c.887T>G (p.Leu296Arg) | |
| MT | m.4193T= | CA2499563774 | MT-ND1 | c.887T= (p.Leu296=) | |
| MT | m.4194C>A | CA913177201 | MT-ND1 | c.888C>A (p.Leu296=) | |
| MT | m.4194C= | CA2499563775 | MT-ND1 | c.888C= (p.Leu296=) | |
| MT | m.4194C>G | CA913177204 | MT-ND1 | c.888C>G (p.Leu296=) | |
| MT | m.4194C>T | CA913177205 | MT-ND1 | c.888C>T (p.Leu296=) | dbSNP |
| MT | m.4195A= | CA2573329414 | MT-ND1 | c.889A= (p.Thr297=) | |
| MT | m.4195A>C | CA414774395 | MT-ND1 | c.889A>C (p.Thr297Pro) | |
| MT | m.4195A>G | CA414774396 | MT-ND1 | c.889A>G (p.Thr297Ala) | |
| MT | m.4195A>T | CA414774397 | MT-ND1 | c.889A>T (p.Thr297Ser) | |
| MT | m.4196C>A | CA414774398 | MT-ND1 | c.890C>A (p.Thr297Asn) | |
| MT | m.4196C= | CA2573329418 | MT-ND1 | c.890C= (p.Thr297=) | |
| MT | m.4196C>G | CA414774400 | MT-ND1 | c.890C>G (p.Thr297Ser) | |
| MT | m.4196C>T | CA414774399 | MT-ND1 | c.890C>T (p.Thr297Ile) | |
| MT | m.4197C>A | CA913177218 | MT-ND1 | c.891C>A (p.Thr297=) | |
| MT | m.4197C= | CA2499563776 | MT-ND1 | c.891C= (p.Thr297=) | |
| MT | m.4197C>G | CA913177219 | MT-ND1 | c.891C>G (p.Thr297=) | |
| MT | m.4197C>T | CA913177220 | MT-ND1 | c.891C>T (p.Thr297=) | dbSNP |
| MT | m.4198C>A | CA414774401 | MT-ND1 | c.892C>A (p.Leu298Ile) | |
| MT | m.4198C= | CA2499563777 | MT-ND1 | c.892C= (p.Leu298=) | |
| MT | m.4198C>G | CA414774402 | MT-ND1 | c.892C>G (p.Leu298Val) | |
| MT | m.4198C>T | CA337096819 | MT-ND1 | c.892C>T (p.Leu298=) | dbSNP |