UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| MT | m.5774_14768del | CA2580610836 | |||
| MT | m.5780_14107del | CA2580610932 | |||
| MT | m.5782_13922del | CA250413 | ClinVar | ||
| MT | m.5788_13923del | CA2580618295 | |||
| MT | m.5794_14876del | CA250414 | ClinVar | ||
| MT | m.6005_11222del | CA645373331 | ClinVar | ||
| MT | m.6011T>A | CA913180914 | MT-CO1 | c.108T>A (p.Leu36=) | |
| MT | m.6011T>C | CA913180912 | MT-CO1 | c.108T>C (p.Leu36=) | dbSNP |
| MT | m.6011T>G | CA913180913 | MT-CO1 | c.108T>G (p.Leu36=) | |
| MT | m.6011T= | CA2499564669 | MT-CO1 | c.108T= (p.Leu36=) | |
| MT | m.6012A= | CA2499564670 | MT-CO1 | c.109A= (p.Ile37=) | |
| MT | m.6012A>C | CA414781220 | MT-CO1 | c.109A>C (p.Ile37Leu) | |
| MT | m.6012A>G | CA414781223 | MT-CO1 | c.109A>G (p.Ile37Val) | ClinVar dbSNP |
| MT | m.6012A>T | CA414781225 | MT-CO1 | c.109A>T (p.Ile37Phe) | |
| MT | m.6013T>A | CA414781227 | MT-CO1 | c.110T>A (p.Ile37Asn) | |
| MT | m.6013T>C | CA414781229 | MT-CO1 | c.110T>C (p.Ile37Thr) | |
| MT | m.6013T>G | CA414781231 | MT-CO1 | c.110T>G (p.Ile37Ser) | |
| MT | m.6013T= | CA2573323451 | MT-CO1 | c.110T= (p.Ile37=) | |
| MT | m.6014T>A | CA913180917 | MT-CO1 | c.111T>A (p.Ile37=) | |
| MT | m.6014T>C | CA913180918 | MT-CO1 | c.111T>C (p.Ile37=) | dbSNP |
| MT | m.6014T>G | CA414781233 | MT-CO1 | c.111T>G (p.Ile37Met) | |
| MT | m.6014T= | CA2499564671 | MT-CO1 | c.111T= (p.Ile37=) | |
| MT | m.6015C>A | CA913180919 | MT-CO1 | c.112C>A (p.Arg38=) | |
| MT | m.6015C= | CA2573323460 | MT-CO1 | c.112C= (p.Arg38=) | |
| MT | m.6015C>G | CA414781235 | MT-CO1 | c.112C>G (p.Arg38Gly) | |
| MT | m.6015C>T | CA414781237 | MT-CO1 | c.112C>T (p.Arg38Ter) | |
| MT | m.6016G>A | CA337097299 | MT-CO1 | c.113G>A (p.Arg38Gln) | dbSNP |
| MT | m.6016G>C | CA414781240 | MT-CO1 | c.113G>C (p.Arg38Pro) | |
| MT | m.6016G= | CA2499564672 | MT-CO1 | c.113G= (p.Arg38=) | |
| MT | m.6016G>T | CA414781245 | MT-CO1 | c.113G>T (p.Arg38Leu) | |
| MT | m.6017A= | CA2499564673 | MT-CO1 | c.114A= (p.Arg38=) | |
| MT | m.6017A>C | CA913180923 | MT-CO1 | c.114A>C (p.Arg38=) | |
| MT | m.6017A>G | CA913180922 | MT-CO1 | c.114A>G (p.Arg38=) | dbSNP |
| MT | m.6017A>T | CA913180921 | MT-CO1 | c.114A>T (p.Arg38=) | |
| MT | m.6018G>A | CA414781248 | MT-CO1 | c.115G>A (p.Ala39Thr) | ClinVar dbSNP |
| MT | m.6018G>C | CA414781252 | MT-CO1 | c.115G>C (p.Ala39Pro) | |
| MT | m.6018G= | CA2499564674 | MT-CO1 | c.115G= (p.Ala39=) | |
| MT | m.6018G>T | CA414781250 | MT-CO1 | c.115G>T (p.Ala39Ser) | |
| MT | m.6019C>A | CA414781254 | MT-CO1 | c.116C>A (p.Ala39Asp) | |
| MT | m.6019C= | CA2573323490 | MT-CO1 | c.116C= (p.Ala39=) | |
| MT | m.6019C>G | CA414781256 | MT-CO1 | c.116C>G (p.Ala39Gly) | |
| MT | m.6019C>T | CA414781258 | MT-CO1 | c.116C>T (p.Ala39Val) | |
| MT | m.6020C>A | CA913180926 | MT-CO1 | c.117C>A (p.Ala39=) | |
| MT | m.6020C= | CA2499564675 | MT-CO1 | c.117C= (p.Ala39=) | |
| MT | m.6020C>G | CA913180925 | MT-CO1 | c.117C>G (p.Ala39=) | |
| MT | m.6020C>T | CA913180924 | MT-CO1 | c.117C>T (p.Ala39=) | dbSNP |
| MT | m.6021G>A | CA414781260 | MT-CO1 | c.118G>A (p.Glu40Lys) | |
| MT | m.6021G>C | CA414781261 | MT-CO1 | c.118G>C (p.Glu40Gln) | dbSNP |
| MT | m.6021G= | CA2499564676 | MT-CO1 | c.118G= (p.Glu40=) | |
| MT | m.6021G>T | CA414781263 | MT-CO1 | c.118G>T (p.Glu40Ter) | |
| MT | m.6022A= | CA2513113003 | MT-CO1 | c.119A= (p.Glu40=) | |
| MT | m.6022A>C | CA414781266 | MT-CO1 | c.119A>C (p.Glu40Ala) | |
| MT | m.6022A>G | CA414781267 | MT-CO1 | c.119A>G (p.Glu40Gly) | |
| MT | m.6022A>T | CA414781269 | MT-CO1 | c.119A>T (p.Glu40Val) | |
| MT | m.6023G>A | CA913180929 | MT-CO1 | c.120G>A (p.Glu40=) | dbSNP |
| MT | m.6023G>C | CA414781271 | MT-CO1 | c.120G>C (p.Glu40Asp) | |
| MT | m.6023G= | CA2499564677 | MT-CO1 | c.120G= (p.Glu40=) | |
| MT | m.6023G>T | CA414781273 | MT-CO1 | c.120G>T (p.Glu40Asp) | |
| MT | m.6024C>A | CA414781275 | MT-CO1 | c.121C>A (p.Leu41Met) | |
| MT | m.6024C= | CA2499564678 | MT-CO1 | c.121C= (p.Leu41=) | |
| MT | m.6024C>G | CA414781277 | MT-CO1 | c.121C>G (p.Leu41Val) | |
| MT | m.6024C>T | CA913180930 | MT-CO1 | c.121C>T (p.Leu41=) | dbSNP |
| MT | m.6025T>A | CA414781278 | MT-CO1 | c.122T>A (p.Leu41Gln) | |
| MT | m.6025T>C | CA414781280 | MT-CO1 | c.122T>C (p.Leu41Pro) | |
| MT | m.6025T>G | CA414781282 | MT-CO1 | c.122T>G (p.Leu41Arg) | |
| MT | m.6025T= | CA2573323505 | MT-CO1 | c.122T= (p.Leu41=) | |
| MT | m.6026G>A | CA337097310 | MT-CO1 | c.123G>A (p.Leu41=) | ClinVar dbSNP |
| MT | m.6026G>C | CA913180931 | MT-CO1 | c.123G>C (p.Leu41=) | |
| MT | m.6026G= | CA2499564679 | MT-CO1 | c.123G= (p.Leu41=) | |
| MT | m.6026G>T | CA913180932 | MT-CO1 | c.123G>T (p.Leu41=) | dbSNP |
| MT | m.6027G>A | CA337097311 | MT-CO1 | c.124G>A (p.Gly42Ser) | dbSNP |
| MT | m.6027G>C | CA414781286 | MT-CO1 | c.124G>C (p.Gly42Arg) | |
| MT | m.6027G= | CA2499564680 | MT-CO1 | c.124G= (p.Gly42=) | |
| MT | m.6027G>T | CA414781287 | MT-CO1 | c.124G>T (p.Gly42Cys) | |
| MT | m.6028G>A | CA337097312 | MT-CO1 | c.125G>A (p.Gly42Asp) | dbSNP |
| MT | m.6028G>C | CA414781290 | MT-CO1 | c.125G>C (p.Gly42Ala) | |
| MT | m.6028G= | CA2499564681 | MT-CO1 | c.125G= (p.Gly42=) | |
| MT | m.6028G>T | CA414781292 | MT-CO1 | c.125G>T (p.Gly42Val) | |
| MT | m.6029C>A | CA913180935 | MT-CO1 | c.126C>A (p.Gly42=) | |
| MT | m.6029C= | CA2573323514 | MT-CO1 | c.126C= (p.Gly42=) | |
| MT | m.6029C>G | CA913180936 | MT-CO1 | c.126C>G (p.Gly42=) | |
| MT | m.6029C>T | CA913180937 | MT-CO1 | c.126C>T (p.Gly42=) | |
| MT | m.6030C>A | CA414781296 | MT-CO1 | c.127C>A (p.Gln43Lys) | |
| MT | m.6030C= | CA2573323518 | MT-CO1 | c.127C= (p.Gln43=) | |
| MT | m.6030C>G | CA414781298 | MT-CO1 | c.127C>G (p.Gln43Glu) | |
| MT | m.6030C>T | CA414781294 | MT-CO1 | c.127C>T (p.Gln43Ter) | |
| MT | m.6031A= | CA2573323521 | MT-CO1 | c.128A= (p.Gln43=) | |
| MT | m.6031A>C | CA414781304 | MT-CO1 | c.128A>C (p.Gln43Pro) | |
| MT | m.6031A>G | CA414781301 | MT-CO1 | c.128A>G (p.Gln43Arg) | |
| MT | m.6031A>T | CA414781303 | MT-CO1 | c.128A>T (p.Gln43Leu) | |
| MT | m.6032G>A | CA337097313 | MT-CO1 | c.129G>A (p.Gln43=) | dbSNP |
| MT | m.6032G>C | CA414781308 | MT-CO1 | c.129G>C (p.Gln43His) | |
| MT | m.6032G= | CA2499564682 | MT-CO1 | c.129G= (p.Gln43=) | |
| MT | m.6032G>T | CA414781309 | MT-CO1 | c.129G>T (p.Gln43His) | |
| MT | m.6033C>A | CA414781312 | MT-CO1 | c.130C>A (p.Pro44Thr) | |
| MT | m.6033C= | CA2573323528 | MT-CO1 | c.130C= (p.Pro44=) | |
| MT | m.6033C>G | CA414781313 | MT-CO1 | c.130C>G (p.Pro44Ala) | |
| MT | m.6033C>T | CA414781315 | MT-CO1 | c.130C>T (p.Pro44Ser) | |
| MT | m.6034C>A | CA414781318 | MT-CO1 | c.131C>A (p.Pro44Gln) | |
| MT | m.6034C= | CA2573323531 | MT-CO1 | c.131C= (p.Pro44=) | |
| MT | m.6034C>G | CA414781319 | MT-CO1 | c.131C>G (p.Pro44Arg) | |
| MT | m.6034C>T | CA414781321 | MT-CO1 | c.131C>T (p.Pro44Leu) | |
| MT | m.6035A= | CA2573323535 | MT-CO1 | c.132A= (p.Pro44=) | |
| MT | m.6035A>C | CA913180940 | MT-CO1 | c.132A>C (p.Pro44=) | |
| MT | m.6035A>G | CA913180939 | MT-CO1 | c.132A>G (p.Pro44=) | |
| MT | m.6035A>T | CA913180941 | MT-CO1 | c.132A>T (p.Pro44=) | |
| MT | m.6036G>A | CA414781327 | MT-CO1 | c.133G>A (p.Gly45Ser) | |
| MT | m.6036G>C | CA414781324 | MT-CO1 | c.133G>C (p.Gly45Arg) | |
| MT | m.6036G= | CA2573323538 | MT-CO1 | c.133G= (p.Gly45=) | |
| MT | m.6036G>T | CA414781325 | MT-CO1 | c.133G>T (p.Gly45Cys) | |
| MT | m.6037G>A | CA414781330 | MT-CO1 | c.134G>A (p.Gly45Asp) | ClinVar dbSNP |
| MT | m.6037G>C | CA414781331 | MT-CO1 | c.134G>C (p.Gly45Ala) | |
| MT | m.6037G= | CA2499564683 | MT-CO1 | c.134G= (p.Gly45=) | |
| MT | m.6037G>T | CA414781333 | MT-CO1 | c.134G>T (p.Gly45Val) | |
| MT | m.6038C>A | CA913180942 | MT-CO1 | c.135C>A (p.Gly45=) | |
| MT | m.6038C= | CA2573323543 | MT-CO1 | c.135C= (p.Gly45=) | |
| MT | m.6038C>G | CA913180944 | MT-CO1 | c.135C>G (p.Gly45=) | |
| MT | m.6038C>T | CA913180945 | MT-CO1 | c.135C>T (p.Gly45=) | dbSNP |
| MT | m.6039A= | CA2573323545 | MT-CO1 | c.136A= (p.Asn46=) | |
| MT | m.6039A>C | CA414781336 | MT-CO1 | c.136A>C (p.Asn46His) | |
| MT | m.6039A>G | CA414781338 | MT-CO1 | c.136A>G (p.Asn46Asp) | |
| MT | m.6039A>T | CA414781340 | MT-CO1 | c.136A>T (p.Asn46Tyr) | |
| MT | m.6040A= | CA2499564684 | MT-CO1 | c.137A= (p.Asn46=) | |
| MT | m.6040A>C | CA414781342 | MT-CO1 | c.137A>C (p.Asn46Thr) | |
| MT | m.6040A>G | CA414781344 | MT-CO1 | c.137A>G (p.Asn46Ser) | ClinVar dbSNP |
| MT | m.6040A>T | CA414781346 | MT-CO1 | c.137A>T (p.Asn46Ile) | |
| MT | m.6041C>A | CA414781348 | MT-CO1 | c.138C>A (p.Asn46Lys) | |
| MT | m.6041C= | CA2573323554 | MT-CO1 | c.138C= (p.Asn46=) | |
| MT | m.6041C>G | CA414781350 | MT-CO1 | c.138C>G (p.Asn46Lys) | |
| MT | m.6041C>T | CA913180948 | MT-CO1 | c.138C>T (p.Asn46=) | |
| MT | m.6042C>A | CA414781353 | MT-CO1 | c.139C>A (p.Leu47Ile) | |
| MT | m.6042C= | CA2499564685 | MT-CO1 | c.139C= (p.Leu47=) | |
| MT | m.6042C>G | CA414781355 | MT-CO1 | c.139C>G (p.Leu47Val) | |
| MT | m.6042C>T | CA337097315 | MT-CO1 | c.139C>T (p.Leu47Phe) | dbSNP |
| MT | m.6043T>A | CA414781357 | MT-CO1 | c.140T>A (p.Leu47His) | |
| MT | m.6043T>C | CA414781359 | MT-CO1 | c.140T>C (p.Leu47Pro) | |
| MT | m.6043T>G | CA414781361 | MT-CO1 | c.140T>G (p.Leu47Arg) | |
| MT | m.6043T= | CA2573323558 | MT-CO1 | c.140T= (p.Leu47=) | |
| MT | m.6044T>A | CA913180950 | MT-CO1 | c.141T>A (p.Leu47=) | |
| MT | m.6044T>C | CA913180951 | MT-CO1 | c.141T>C (p.Leu47=) | dbSNP |
| MT | m.6044T>G | CA913180952 | MT-CO1 | c.141T>G (p.Leu47=) | |
| MT | m.6044T= | CA2499564686 | MT-CO1 | c.141T= (p.Leu47=) | |
| MT | m.6045C>A | CA337097317 | MT-CO1 | c.142C>A (p.Leu48Ile) | |
| MT | m.6045C= | CA2499564687 | MT-CO1 | c.142C= (p.Leu48=) | |
| MT | m.6045C>G | CA337097319 | MT-CO1 | c.142C>G (p.Leu48Val) | |
| MT | m.6045C>T | CA337097322 | MT-CO1 | c.142C>T (p.Leu48=) | dbSNP |
| MT | m.6046T>A | CA414781367 | MT-CO1 | c.143T>A (p.Leu48Gln) | |
| MT | m.6046T>C | CA414781370 | MT-CO1 | c.143T>C (p.Leu48Pro) | |
| MT | m.6046T>G | CA414781369 | MT-CO1 | c.143T>G (p.Leu48Arg) | |
| MT | m.6046T= | CA2499564688 | MT-CO1 | c.143T= (p.Leu48=) | |
| MT | m.6047A= | CA2499564689 | MT-CO1 | c.144A= (p.Leu48=) | |
| MT | m.6047A>C | CA913180954 | MT-CO1 | c.144A>C (p.Leu48=) | |
| MT | m.6047A>G | CA337097324 | MT-CO1 | c.144A>G (p.Leu48=) | ClinVar dbSNP |
| MT | m.6047A>T | CA913180953 | MT-CO1 | c.144A>T (p.Leu48=) | |
| MT | m.6047_6049dup | CA920599437 | MT-CO1 | c.144_146dup (p.Gly49_Asn50insGly) | dbSNP |
| MT | m.6048G>A | CA414781374 | MT-CO1 | c.145G>A (p.Gly49Ser) | ClinVar dbSNP |
| MT | m.6048G>C | CA414781375 | MT-CO1 | c.145G>C (p.Gly49Arg) | |
| MT | m.6048G= | CA2499564690 | MT-CO1 | c.145G= (p.Gly49=) | |
| MT | m.6048G>T | CA414781376 | MT-CO1 | c.145G>T (p.Gly49Cys) | |
| MT | m.6049G>A | CA414781379 | MT-CO1 | c.146G>A (p.Gly49Asp) | |
| MT | m.6049G>C | CA414781383 | MT-CO1 | c.146G>C (p.Gly49Ala) | |
| MT | m.6049G= | CA2573323575 | MT-CO1 | c.146G= (p.Gly49=) | |
| MT | m.6049G>T | CA414781381 | MT-CO1 | c.146G>T (p.Gly49Val) | |
| MT | m.6050T>A | CA913180955 | MT-CO1 | c.147T>A (p.Gly49=) | |
| MT | m.6050T>C | CA913180956 | MT-CO1 | c.147T>C (p.Gly49=) | dbSNP |
| MT | m.6050T>G | CA913180957 | MT-CO1 | c.147T>G (p.Gly49=) | |
| MT | m.6050T= | CA2499564691 | MT-CO1 | c.147T= (p.Gly49=) | |
| MT | m.6051A= | CA2573323579 | MT-CO1 | c.148A= (p.Asn50=) | |
| MT | m.6051A>C | CA414781385 | MT-CO1 | c.148A>C (p.Asn50His) | |
| MT | m.6051A>G | CA414781387 | MT-CO1 | c.148A>G (p.Asn50Asp) | |
| MT | m.6051A>T | CA414781389 | MT-CO1 | c.148A>T (p.Asn50Tyr) | |
| MT | m.6052A= | CA2499564692 | MT-CO1 | c.149A= (p.Asn50=) | |
| MT | m.6052A>C | CA414781391 | MT-CO1 | c.149A>C (p.Asn50Thr) | |
| MT | m.6052A>G | CA414781393 | MT-CO1 | c.149A>G (p.Asn50Ser) | ClinVar dbSNP |
| MT | m.6052A>T | CA414781395 | MT-CO1 | c.149A>T (p.Asn50Ile) | |
| MT | m.6053C>A | CA414781397 | MT-CO1 | c.150C>A (p.Asn50Lys) | |
| MT | m.6053C= | CA2499564693 | MT-CO1 | c.150C= (p.Asn50=) | |
| MT | m.6053C>G | CA414781399 | MT-CO1 | c.150C>G (p.Asn50Lys) | |
| MT | m.6053C>T | CA913180959 | MT-CO1 | c.150C>T (p.Asn50=) | dbSNP |
| MT | m.6054G>A | CA414781402 | MT-CO1 | c.151G>A (p.Asp51Asn) | ClinVar dbSNP |
| MT | m.6054G>C | CA414781403 | MT-CO1 | c.151G>C (p.Asp51His) | |
| MT | m.6054G= | CA2499564694 | MT-CO1 | c.151G= (p.Asp51=) | |
| MT | m.6054G>T | CA414781405 | MT-CO1 | c.151G>T (p.Asp51Tyr) | |
| MT | m.6055A= | CA2573323592 | MT-CO1 | c.152A= (p.Asp51=) | |
| MT | m.6055A>C | CA414781411 | MT-CO1 | c.152A>C (p.Asp51Ala) | |
| MT | m.6055A>G | CA414781409 | MT-CO1 | c.152A>G (p.Asp51Gly) | |
| MT | m.6055A>T | CA414781408 | MT-CO1 | c.152A>T (p.Asp51Val) | |
| MT | m.6056C>A | CA414781414 | MT-CO1 | c.153C>A (p.Asp51Glu) | |
| MT | m.6056C= | CA2573323597 | MT-CO1 | c.153C= (p.Asp51=) | |
| MT | m.6056C>G | CA414781416 | MT-CO1 | c.153C>G (p.Asp51Glu) | |
| MT | m.6056C>T | CA913180962 | MT-CO1 | c.153C>T (p.Asp51=) | |
| MT | m.6057C>A | CA414781418 | MT-CO1 | c.154C>A (p.His52Asn) | |
| MT | m.6057C= | CA2573323604 | MT-CO1 | c.154C= (p.His52=) | |
| MT | m.6057C>G | CA414781423 | MT-CO1 | c.154C>G (p.His52Asp) | |
| MT | m.6057C>T | CA414781421 | MT-CO1 | c.154C>T (p.His52Tyr) | |
| MT | m.6058A= | CA2573323607 | MT-CO1 | c.155A= (p.His52=) | |
| MT | m.6058A>C | CA414781427 | MT-CO1 | c.155A>C (p.His52Pro) | |
| MT | m.6058A>G | CA414781433 | MT-CO1 | c.155A>G (p.His52Arg) | |
| MT | m.6058A>T | CA414781429 | MT-CO1 | c.155A>T (p.His52Leu) | |
| MT | m.6059C>A | CA414781436 | MT-CO1 | c.156C>A (p.His52Gln) | |
| MT | m.6059C= | CA2499564695 | MT-CO1 | c.156C= (p.His52=) | |
| MT | m.6059C>G | CA414781438 | MT-CO1 | c.156C>G (p.His52Gln) | |
| MT | m.6059C>T | CA913180965 | MT-CO1 | c.156C>T (p.His52=) | dbSNP |
| MT | m.6060A= | CA2499564696 | MT-CO1 | c.157A= (p.Ile53=) | |
| MT | m.6060A>C | CA414781442 | MT-CO1 | c.157A>C (p.Ile53Leu) | ClinVar dbSNP |
| MT | m.6060A>G | CA414781445 | MT-CO1 | c.157A>G (p.Ile53Val) | ClinVar dbSNP |
| MT | m.6060A>T | CA414781447 | MT-CO1 | c.157A>T (p.Ile53Phe) | |
| MT | m.6061T>A | CA414781450 | MT-CO1 | c.158T>A (p.Ile53Asn) | |
| MT | m.6061T>C | CA414781453 | MT-CO1 | c.158T>C (p.Ile53Thr) | ClinVar dbSNP |
| MT | m.6061T>G | CA414781456 | MT-CO1 | c.158T>G (p.Ile53Ser) | |
| MT | m.6061T= | CA2499564697 | MT-CO1 | c.158T= (p.Ile53=) | |
| MT | m.6062C>A | CA913180966 | MT-CO1 | c.159C>A (p.Ile53=) | |
| MT | m.6062C= | CA2499564698 | MT-CO1 | c.159C= (p.Ile53=) | |
| MT | m.6062C>G | CA414781457 | MT-CO1 | c.159C>G (p.Ile53Met) | |
| MT | m.6062C>T | CA337097326 | MT-CO1 | c.159C>T (p.Ile53=) | dbSNP |
| MT | m.6063T>A | CA414781468 | MT-CO1 | c.160T>A (p.Tyr54Asn) | |
| MT | m.6063T>C | CA414781465 | MT-CO1 | c.160T>C (p.Tyr54His) | |
| MT | m.6063T>G | CA414781464 | MT-CO1 | c.160T>G (p.Tyr54Asp) | |
| MT | m.6063T= | CA2573323623 | MT-CO1 | c.160T= (p.Tyr54=) | |
| MT | m.6064A= | CA2573323624 | MT-CO1 | c.161A= (p.Tyr54=) | |
| MT | m.6064A>C | CA414781472 | MT-CO1 | c.161A>C (p.Tyr54Ser) | |
| MT | m.6064A>G | CA414781474 | MT-CO1 | c.161A>G (p.Tyr54Cys) | |
| MT | m.6064A>T | CA414781476 | MT-CO1 | c.161A>T (p.Tyr54Phe) | |
| MT | m.6065C>A | CA414781481 | MT-CO1 | c.162C>A (p.Tyr54Ter) | |
| MT | m.6065C= | CA2499564699 | MT-CO1 | c.162C= (p.Tyr54=) | |
| MT | m.6065C>G | CA414781483 | MT-CO1 | c.162C>G (p.Tyr54Ter) | |
| MT | m.6065C>T | CA913180967 | MT-CO1 | c.162C>T (p.Tyr54=) | dbSNP |
| MT | m.6066A= | CA2573323631 | MT-CO1 | c.163A= (p.Asn55=) | |
| MT | m.6066A>C | CA414781487 | MT-CO1 | c.163A>C (p.Asn55His) | |
| MT | m.6066A>G | CA414781490 | MT-CO1 | c.163A>G (p.Asn55Asp) | |
| MT | m.6066A>T | CA414781492 | MT-CO1 | c.163A>T (p.Asn55Tyr) | |
| MT | m.6067A= | CA2573323634 | MT-CO1 | c.164A= (p.Asn55=) | |
| MT | m.6067A>C | CA414781495 | MT-CO1 | c.164A>C (p.Asn55Thr) | |
| MT | m.6067A>G | CA414781498 | MT-CO1 | c.164A>G (p.Asn55Ser) | |
| MT | m.6067A>T | CA414781501 | MT-CO1 | c.164A>T (p.Asn55Ile) | |
| MT | m.6068C>A | CA414781506 | MT-CO1 | c.165C>A (p.Asn55Lys) | |
| MT | m.6068C= | CA2573323638 | MT-CO1 | c.165C= (p.Asn55=) | |
| MT | m.6068C>G | CA414781504 | MT-CO1 | c.165C>G (p.Asn55Lys) | |
| MT | m.6068C>T | CA913180968 | MT-CO1 | c.165C>T (p.Asn55=) | dbSNP |
| MT | m.6069G>A | CA414781510 | MT-CO1 | c.166G>A (p.Val56Ile) | |
| MT | m.6069G>C | CA414781512 | MT-CO1 | c.166G>C (p.Val56Leu) | |
| MT | m.6069G= | CA2573323644 | MT-CO1 | c.166G= (p.Val56=) | |
| MT | m.6069G>T | CA414781514 | MT-CO1 | c.166G>T (p.Val56Phe) | |
| MT | m.6070T>A | CA414781519 | MT-CO1 | c.167T>A (p.Val56Asp) | |
| MT | m.6070T>C | CA414781522 | MT-CO1 | c.167T>C (p.Val56Ala) | dbSNP |
| MT | m.6070T>G | CA414781525 | MT-CO1 | c.167T>G (p.Val56Gly) | |
| MT | m.6070T= | CA2573323648 | MT-CO1 | c.167T= (p.Val56=) | |
| MT | m.6071T>A | CA913180970 | MT-CO1 | c.168T>A (p.Val56=) | |
| MT | m.6071T>C | CA10581402 | MT-CO1 | c.168T>C (p.Val56=) | ClinVar dbSNP |
| MT | m.6071T>G | CA913180971 | MT-CO1 | c.168T>G (p.Val56=) | |
| MT | m.6071T= | CA2499564700 | MT-CO1 | c.168T= (p.Val56=) | |
| MT | m.6072A= | CA2499564701 | MT-CO1 | c.169A= (p.Ile57=) | |
| MT | m.6072A>C | CA414781532 | MT-CO1 | c.169A>C (p.Ile57Leu) | |
| MT | m.6072A>G | CA414781533 | MT-CO1 | c.169A>G (p.Ile57Val) | ClinVar dbSNP |
| MT | m.6072A>T | CA414781536 | MT-CO1 | c.169A>T (p.Ile57Phe) | |
| MT | m.6073T>A | CA414781539 | MT-CO1 | c.170T>A (p.Ile57Asn) | |
| MT | m.6073T>C | CA414781542 | MT-CO1 | c.170T>C (p.Ile57Thr) | |
| MT | m.6073T>G | CA414781545 | MT-CO1 | c.170T>G (p.Ile57Ser) | |
| MT | m.6073T= | CA2573323662 | MT-CO1 | c.170T= (p.Ile57=) | |
| MT | m.6074C>A | CA913180975 | MT-CO1 | c.171C>A (p.Ile57=) | |
| MT | m.6074C= | CA2499564702 | MT-CO1 | c.171C= (p.Ile57=) | |
| MT | m.6074C>G | CA414781547 | MT-CO1 | c.171C>G (p.Ile57Met) | |
| MT | m.6074C>T | CA913180976 | MT-CO1 | c.171C>T (p.Ile57=) | dbSNP |
| MT | m.6075G>A | CA414781551 | MT-CO1 | c.172G>A (p.Val58Ile) | ClinVar dbSNP |
| MT | m.6075G>C | CA414781554 | MT-CO1 | c.172G>C (p.Val58Leu) | |
| MT | m.6075G= | CA2499564703 | MT-CO1 | c.172G= (p.Val58=) | |
| MT | m.6075G>T | CA414781556 | MT-CO1 | c.172G>T (p.Val58Phe) | |
| MT | m.6076T>A | CA414781560 | MT-CO1 | c.173T>A (p.Val58Asp) | |
| MT | m.6076T>C | CA414781563 | MT-CO1 | c.173T>C (p.Val58Ala) | |
| MT | m.6076T>G | CA414781565 | MT-CO1 | c.173T>G (p.Val58Gly) | |
| MT | m.6076T= | CA2513256363 | MT-CO1 | c.173T= (p.Val58=) | |
| MT | m.6077C>A | CA913180984 | MT-CO1 | c.174C>A (p.Val58=) | |
| MT | m.6077C= | CA2499564704 | MT-CO1 | c.174C= (p.Val58=) | |
| MT | m.6077C>G | CA913180983 | MT-CO1 | c.174C>G (p.Val58=) | |
| MT | m.6077C>T | CA913180982 | MT-CO1 | c.174C>T (p.Val58=) | dbSNP |
| MT | m.6078A= | CA2573323675 | MT-CO1 | c.175A= (p.Thr59=) | |
| MT | m.6078A>C | CA414781569 | MT-CO1 | c.175A>C (p.Thr59Pro) | |
| MT | m.6078A>G | CA414781570 | MT-CO1 | c.175A>G (p.Thr59Ala) | |
| MT | m.6078A>T | CA414781572 | MT-CO1 | c.175A>T (p.Thr59Ser) | |
| MT | m.6079C>A | CA414781576 | MT-CO1 | c.176C>A (p.Thr59Lys) | |
| MT | m.6079C= | CA2573323678 | MT-CO1 | c.176C= (p.Thr59=) | |
| MT | m.6079C>G | CA414781579 | MT-CO1 | c.176C>G (p.Thr59Arg) | |
| MT | m.6079C>T | CA414781581 | MT-CO1 | c.176C>T (p.Thr59Ile) | |
| MT | m.6080A= | CA2499564705 | MT-CO1 | c.177A= (p.Thr59=) | |
| MT | m.6080A>C | CA913180987 | MT-CO1 | c.177A>C (p.Thr59=) | |
| MT | m.6080A>G | CA913180989 | MT-CO1 | c.177A>G (p.Thr59=) | dbSNP |
| MT | m.6080A>T | CA913180990 | MT-CO1 | c.177A>T (p.Thr59=) | |
| MT | m.6081G>A | CA414781585 | MT-CO1 | c.178G>A (p.Ala60Thr) | ClinVar dbSNP |
| MT | m.6081G>C | CA414781589 | MT-CO1 | c.178G>C (p.Ala60Pro) | |
| MT | m.6081G= | CA2499564706 | MT-CO1 | c.178G= (p.Ala60=) | |
| MT | m.6081G>T | CA414781587 | MT-CO1 | c.178G>T (p.Ala60Ser) | ClinVar dbSNP |
| MT | m.6082C>A | CA414781594 | MT-CO1 | c.179C>A (p.Ala60Asp) | |
| MT | m.6082C= | CA2573323691 | MT-CO1 | c.179C= (p.Ala60=) | |
| MT | m.6082C>G | CA414781598 | MT-CO1 | c.179C>G (p.Ala60Gly) | |
| MT | m.6082C>T | CA414781595 | MT-CO1 | c.179C>T (p.Ala60Val) | |
| MT | m.6083C>A | CA913180991 | MT-CO1 | c.180C>A (p.Ala60=) | |
| MT | m.6083C= | CA2573323692 | MT-CO1 | c.180C= (p.Ala60=) | |
| MT | m.6083C>G | CA913180994 | MT-CO1 | c.180C>G (p.Ala60=) | |
| MT | m.6083C>T | CA913180992 | MT-CO1 | c.180C>T (p.Ala60=) | |
| MT | m.6084C>A | CA414781602 | MT-CO1 | c.181C>A (p.His61Asn) | |
| MT | m.6084C= | CA2573323694 | MT-CO1 | c.181C= (p.His61=) | |
| MT | m.6084C>G | CA414781605 | MT-CO1 | c.181C>G (p.His61Asp) | |
| MT | m.6084C>T | CA414781608 | MT-CO1 | c.181C>T (p.His61Tyr) | |
| MT | m.6085A= | CA2573323698 | MT-CO1 | c.182A= (p.His61=) | |
| MT | m.6085A>C | CA414781612 | MT-CO1 | c.182A>C (p.His61Pro) | |
| MT | m.6085A>G | CA414781614 | MT-CO1 | c.182A>G (p.His61Arg) | |
| MT | m.6085A>T | CA414781618 | MT-CO1 | c.182A>T (p.His61Leu) | |
| MT | m.6086T>A | CA414781620 | MT-CO1 | c.183T>A (p.His61Gln) | |
| MT | m.6086T>C | CA913180997 | MT-CO1 | c.183T>C (p.His61=) | dbSNP |
| MT | m.6086T>G | CA414781622 | MT-CO1 | c.183T>G (p.His61Gln) | |
| MT | m.6086T= | CA2499564707 | MT-CO1 | c.183T= (p.His61=) | |
| MT | m.6087G>A | CA414781626 | MT-CO1 | c.184G>A (p.Ala62Thr) | |
| MT | m.6087G>C | CA414781629 | MT-CO1 | c.184G>C (p.Ala62Pro) | |
| MT | m.6087G= | CA2573323704 | MT-CO1 | c.184G= (p.Ala62=) | |
| MT | m.6087G>T | CA414781632 | MT-CO1 | c.184G>T (p.Ala62Ser) | |
| MT | m.6088C>A | CA414781636 | MT-CO1 | c.185C>A (p.Ala62Glu) | |
| MT | m.6088C= | CA2573323706 | MT-CO1 | c.185C= (p.Ala62=) | |
| MT | m.6088C>G | CA414781640 | MT-CO1 | c.185C>G (p.Ala62Gly) | |
| MT | m.6088C>T | CA414781637 | MT-CO1 | c.185C>T (p.Ala62Val) | |
| MT | m.6089A= | CA2573323709 | MT-CO1 | c.186A= (p.Ala62=) | |
| MT | m.6089A>C | CA913181002 | MT-CO1 | c.186A>C (p.Ala62=) | |
| MT | m.6089A>G | CA913181001 | MT-CO1 | c.186A>G (p.Ala62=) | |
| MT | m.6089A>T | CA913181003 | MT-CO1 | c.186A>T (p.Ala62=) | |
| MT | m.6090T>A | CA414781643 | MT-CO1 | c.187T>A (p.Phe63Ile) | |
| MT | m.6090T>C | CA414781646 | MT-CO1 | c.187T>C (p.Phe63Leu) | dbSNP |
| MT | m.6090T>G | CA414781648 | MT-CO1 | c.187T>G (p.Phe63Val) | |
| MT | m.6090T= | CA2499564708 | MT-CO1 | c.187T= (p.Phe63=) | |
| MT | m.6091T>A | CA414781652 | MT-CO1 | c.188T>A (p.Phe63Tyr) | |
| MT | m.6091T>C | CA414781655 | MT-CO1 | c.188T>C (p.Phe63Ser) | |
| MT | m.6091T>G | CA414781657 | MT-CO1 | c.188T>G (p.Phe63Cys) | |
| MT | m.6091T= | CA2573323716 | MT-CO1 | c.188T= (p.Phe63=) | |
| MT | m.6092T>A | CA414781660 | MT-CO1 | c.189T>A (p.Phe63Leu) | |
| MT | m.6092T>C | CA913181008 | MT-CO1 | c.189T>C (p.Phe63=) | dbSNP |
| MT | m.6092T>G | CA414781663 | MT-CO1 | c.189T>G (p.Phe63Leu) | |
| MT | m.6092T= | CA2499564709 | MT-CO1 | c.189T= (p.Phe63=) | |
| MT | m.6093G>A | CA414781670 | MT-CO1 | c.190G>A (p.Val64Ile) | ClinVar dbSNP |
| MT | m.6093G>C | CA414781668 | MT-CO1 | c.190G>C (p.Val64Leu) | |
| MT | m.6093G= | CA2499564710 | MT-CO1 | c.190G= (p.Val64=) | |
| MT | m.6093G>T | CA414781667 | MT-CO1 | c.190G>T (p.Val64Leu) | |
| MT | m.6094T>A | CA414781674 | MT-CO1 | c.191T>A (p.Val64Glu) | |
| MT | m.6094T>C | CA414781677 | MT-CO1 | c.191T>C (p.Val64Ala) | |
| MT | m.6094T>G | CA414781679 | MT-CO1 | c.191T>G (p.Val64Gly) | |
| MT | m.6094T= | CA2573323727 | MT-CO1 | c.191T= (p.Val64=) | |
| MT | m.6095A= | CA2499564711 | MT-CO1 | c.192A= (p.Val64=) | |
| MT | m.6095A>C | CA913181011 | MT-CO1 | c.192A>C (p.Val64=) | |
| MT | m.6095A>G | CA913181012 | MT-CO1 | c.192A>G (p.Val64=) | dbSNP |
| MT | m.6095A>T | CA913181013 | MT-CO1 | c.192A>T (p.Val64=) | |
| MT | m.6096A= | CA2573323734 | MT-CO1 | c.193A= (p.Ile65=) | |
| MT | m.6096A>C | CA414781683 | MT-CO1 | c.193A>C (p.Ile65Leu) | |
| MT | m.6096A>G | CA414781685 | MT-CO1 | c.193A>G (p.Ile65Val) | |
| MT | m.6096A>T | CA414781687 | MT-CO1 | c.193A>T (p.Ile65Leu) | |
| MT | m.6097_6098del | CA2573104819 | MT-CO1 | c.194_195del (p.Ile65AsnfsTer?) | |
| MT | m.6097T>A | CA414781690 | MT-CO1 | c.194T>A (p.Ile65Lys) | |
| MT | m.6097T>C | CA414781693 | MT-CO1 | c.194T>C (p.Ile65Thr) | |
| MT | m.6097T>G | CA414781696 | MT-CO1 | c.194T>G (p.Ile65Arg) | |
| MT | m.6097T= | CA2573323738 | MT-CO1 | c.194T= (p.Ile65=) | |
| MT | m.6098A= | CA2573323746 | MT-CO1 | c.195A= (p.Ile65=) | |
| MT | m.6098A>C | CA913181014 | MT-CO1 | c.195A>C (p.Ile65=) | |
| MT | m.6098A>G | CA414781698 | MT-CO1 | c.195A>G (p.Ile65Met) | dbSNP |
| MT | m.6098A>T | CA913181016 | MT-CO1 | c.195A>T (p.Ile65=) | |
| MT | m.6099A= | CA2573323748 | MT-CO1 | c.196A= (p.Ile66=) | |
| MT | m.6099A>C | CA414781707 | MT-CO1 | c.196A>C (p.Ile66Leu) | |
| MT | m.6099A>G | CA414781705 | MT-CO1 | c.196A>G (p.Ile66Val) | |
| MT | m.6099A>T | CA414781702 | MT-CO1 | c.196A>T (p.Ile66Phe) | |
| MT | m.6100T>A | CA414781711 | MT-CO1 | c.197T>A (p.Ile66Asn) | |
| MT | m.6100T>C | CA414781713 | MT-CO1 | c.197T>C (p.Ile66Thr) | |
| MT | m.6100T>G | CA414781716 | MT-CO1 | c.197T>G (p.Ile66Ser) | |
| MT | m.6100T= | CA2573323750 | MT-CO1 | c.197T= (p.Ile66=) | |
| MT | m.6101C>A | CA913181020 | MT-CO1 | c.198C>A (p.Ile66=) | |
| MT | m.6101C= | CA2499564712 | MT-CO1 | c.198C= (p.Ile66=) | |
| MT | m.6101C>G | CA414781719 | MT-CO1 | c.198C>G (p.Ile66Met) | |
| MT | m.6101C>T | CA913181019 | MT-CO1 | c.198C>T (p.Ile66=) | dbSNP |
| MT | m.6102T>A | CA414781722 | MT-CO1 | c.199T>A (p.Phe67Ile) | |
| MT | m.6102T>C | CA414781724 | MT-CO1 | c.199T>C (p.Phe67Leu) | |
| MT | m.6102T>G | CA414781726 | MT-CO1 | c.199T>G (p.Phe67Val) | |
| MT | m.6102T= | CA2573323754 | MT-CO1 | c.199T= (p.Phe67=) | |
| MT | m.6103T>A | CA414781731 | MT-CO1 | c.200T>A (p.Phe67Tyr) | |
| MT | m.6103T>C | CA414781733 | MT-CO1 | c.200T>C (p.Phe67Ser) | |
| MT | m.6103T>G | CA414781736 | MT-CO1 | c.200T>G (p.Phe67Cys) | |
| MT | m.6103T= | CA2573323758 | MT-CO1 | c.200T= (p.Phe67=) | |
| MT | m.6104C>A | CA414781739 | MT-CO1 | c.201C>A (p.Phe67Leu) | |
| MT | m.6104C= | CA2499564713 | MT-CO1 | c.201C= (p.Phe67=) | |
| MT | m.6104C>G | CA414781741 | MT-CO1 | c.201C>G (p.Phe67Leu) | |
| MT | m.6104C>T | CA913181024 | MT-CO1 | c.201C>T (p.Phe67=) | dbSNP |
| MT | m.6105T>A | CA414781747 | MT-CO1 | c.202T>A (p.Phe68Ile) | |
| MT | m.6105T>C | CA414781749 | MT-CO1 | c.202T>C (p.Phe68Leu) | |
| MT | m.6105T>G | CA414781745 | MT-CO1 | c.202T>G (p.Phe68Val) | |
| MT | m.6105T= | CA2573323763 | MT-CO1 | c.202T= (p.Phe68=) | |
| MT | m.6106T>A | CA414781758 | MT-CO1 | c.203T>A (p.Phe68Tyr) | |
| MT | m.6106T>C | CA414781754 | MT-CO1 | c.203T>C (p.Phe68Ser) | |
| MT | m.6106T>G | CA414781756 | MT-CO1 | c.203T>G (p.Phe68Cys) | |
| MT | m.6106T= | CA2573323767 | MT-CO1 | c.203T= (p.Phe68=) | |
| MT | m.6107C>A | CA414781763 | MT-CO1 | c.204C>A (p.Phe68Leu) | |
| MT | m.6107C= | CA2573323772 | MT-CO1 | c.204C= (p.Phe68=) | |
| MT | m.6107C>G | CA414781764 | MT-CO1 | c.204C>G (p.Phe68Leu) | |
| MT | m.6107C>T | CA913181026 | MT-CO1 | c.204C>T (p.Phe68=) | |
| MT | m.6108A= | CA2573323775 | MT-CO1 | c.205A= (p.Ile69=) | |
| MT | m.6108A>C | CA414781769 | MT-CO1 | c.205A>C (p.Ile69Leu) | |
| MT | m.6108A>G | CA414781771 | MT-CO1 | c.205A>G (p.Ile69Val) | dbSNP |
| MT | m.6108A>T | CA414781773 | MT-CO1 | c.205A>T (p.Ile69Leu) | |
| MT | m.6109T>A | CA414781778 | MT-CO1 | c.206T>A (p.Ile69Lys) | |
| MT | m.6109T>C | CA414781784 | MT-CO1 | c.206T>C (p.Ile69Thr) | ClinVar dbSNP |
| MT | m.6109T>G | CA414781781 | MT-CO1 | c.206T>G (p.Ile69Arg) | |
| MT | m.6109T= | CA2499564714 | MT-CO1 | c.206T= (p.Ile69=) | |
| MT | m.6110A= | CA2573323785 | MT-CO1 | c.207A= (p.Ile69=) | |
| MT | m.6110A>C | CA913181028 | MT-CO1 | c.207A>C (p.Ile69=) | |
| MT | m.6110A>G | CA414781788 | MT-CO1 | c.207A>G (p.Ile69Met) | |
| MT | m.6110A>T | CA913181027 | MT-CO1 | c.207A>T (p.Ile69=) | |
| MT | m.6111G>A | CA414781790 | MT-CO1 | c.208G>A (p.Val70Ile) | |
| MT | m.6111G>C | CA414781793 | MT-CO1 | c.208G>C (p.Val70Leu) | |
| MT | m.6111G= | CA2573323789 | MT-CO1 | c.208G= (p.Val70=) | |
| MT | m.6111G>T | CA414781796 | MT-CO1 | c.208G>T (p.Val70Leu) |