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.6470_15588del | CA645373332 | ClinVar | ||
| MT | m.7129_13991del | CA645373333 | ClinVar | ||
| MT | m.7731_11256del | CA645373334 | ClinVar | ||
| MT | m.8290_13040del | CA645373335 | ClinVar | ||
| MT | m.8350_13450del | CA915952048 | ClinVar | ||
| MT | m.8483_13459del | CA645373336 | ClinVar | ||
| MT | m.8480_13440del | CA915952050 | ClinVar | ||
| MT | m.8532C>A | CA414796537 | MT-ATP6,MT-ATP8 | c.167C>A (p.Thr56Lys) c.6C>A (p.Asn2Lys) | |
| MT | m.8532C= | CA2499565721 | MT-ATP6,MT-ATP8 | c.167C= (p.Thr56=) c.6C= (p.Asn2=) | |
| MT | m.8532C>G | CA414796539 | MT-ATP6,MT-ATP8 | c.167C>G (p.Thr56Arg) c.6C>G (p.Asn2Lys) | |
| MT | m.8532C>T | CA414796541 | MT-ATP6,MT-ATP8 | c.167C>T (p.Thr56Met) c.6C>T (p.Asn2=) | dbSNP |
| MT | m.8533G>A | CA337097912 | MT-ATP6,MT-ATP8 | c.168G>A (p.Thr56=) c.7G>A (p.Glu3Lys) | ClinVar dbSNP |
| MT | m.8533G>C | CA414796544 | MT-ATP6,MT-ATP8 | c.168G>C (p.Thr56=) c.7G>C (p.Glu3Gln) | |
| MT | m.8533G= | CA2499565722 | MT-ATP6,MT-ATP8 | c.168G= (p.Thr56=) c.7G= (p.Glu3=) | |
| MT | m.8533G>T | CA414796547 | MT-ATP6,MT-ATP8 | c.168G>T (p.Thr56=) c.7G>T (p.Glu3Ter) | |
| MT | m.8534A= | CA2573329730 | MT-ATP6,MT-ATP8 | c.169A= (p.Lys57=) c.8A= (p.Glu3=) | |
| MT | m.8534A>C | CA414796552 | MT-ATP6,MT-ATP8 | c.169A>C (p.Lys57Gln) c.8A>C (p.Glu3Ala) | |
| MT | m.8534A>G | CA414796551 | MT-ATP6,MT-ATP8 | c.169A>G (p.Lys57Glu) c.8A>G (p.Glu3Gly) | |
| MT | m.8534A>T | CA414796549 | MT-ATP6,MT-ATP8 | c.169A>T (p.Lys57Ter) c.8A>T (p.Glu3Val) | |
| MT | m.8535A= | CA2573329732 | MT-ATP6,MT-ATP8 | c.170A= (p.Lys57=) c.9A= (p.Glu3=) | |
| MT | m.8535A>C | CA414796554 | MT-ATP6,MT-ATP8 | c.170A>C (p.Lys57Thr) c.9A>C (p.Glu3Asp) | |
| MT | m.8535A>G | CA414796556 | MT-ATP6,MT-ATP8 | c.170A>G (p.Lys57Arg) c.9A>G (p.Glu3=) | |
| MT | m.8535A>T | CA414796558 | MT-ATP6,MT-ATP8 | c.170A>T (p.Lys57Ile) c.9A>T (p.Glu3Asp) | |
| MT | m.8536A= | CA2573329735 | MT-ATP6,MT-ATP8 | c.171A= (p.Lys57=) c.10A= (p.Asn4=) | |
| MT | m.8536A>C | CA414796560 | MT-ATP6,MT-ATP8 | c.171A>C (p.Lys57Asn) c.10A>C (p.Asn4His) | |
| MT | m.8536A>G | CA414796561 | MT-ATP6,MT-ATP8 | c.171A>G (p.Lys57=) c.10A>G (p.Asn4Asp) | |
| MT | m.8536A>T | CA414796563 | MT-ATP6,MT-ATP8 | c.171A>T (p.Lys57Asn) c.10A>T (p.Asn4Tyr) | |
| MT | m.8537A= | CA2499565723 | MT-ATP6,MT-ATP8 | c.172A= (p.Ile58=) c.11A= (p.Asn4=) | |
| MT | m.8537A>C | CA414796565 | MT-ATP6,MT-ATP8 | c.172A>C (p.Ile58Leu) c.11A>C (p.Asn4Thr) | |
| MT | m.8537A>G | CA414796566 | MT-ATP6,MT-ATP8 | c.172A>G (p.Ile58Val) c.11A>G (p.Asn4Ser) | ClinVar dbSNP |
| MT | m.8537A>T | CA414796567 | MT-ATP6,MT-ATP8 | c.172A>T (p.Ile58Phe) c.11A>T (p.Asn4Ile) | |
| MT | m.8537_8538insCCAACGC | CA2740098134 | MT-ATP6,MT-ATP8 | c.172_173insCCAACGC (p.Ile58ThrfsTer?) c.11_12insCCAACGC (p.Leu5GlnfsTer?) | |
| MT | m.8538T>A | CA414796568 | MT-ATP6,MT-ATP8 | c.173T>A (p.Ile58Asn) c.12T>A (p.Asn4Lys) | |
| MT | m.8538T>C | CA10581276 | MT-ATP6,MT-ATP8 | c.173T>C (p.Ile58Thr) c.12T>C (p.Asn4=) | ClinVar dbSNP |
| MT | m.8538T>G | CA414796570 | MT-ATP6,MT-ATP8 | c.173T>G (p.Ile58Ser) c.12T>G (p.Asn4Lys) | |
| MT | m.8538T= | CA2499565724 | MT-ATP6,MT-ATP8 | c.173T= (p.Ile58=) c.12T= (p.Asn4=) | |
| MT | m.8539C>A | CA414796573 | MT-ATP6,MT-ATP8 | c.174C>A (p.Ile58=) c.13C>A (p.Leu5Met) | |
| MT | m.8539C= | CA2573329741 | MT-ATP6,MT-ATP8 | c.174C= (p.Ile58=) c.13C= (p.Leu5=) | |
| MT | m.8539C>G | CA414796572 | MT-ATP6,MT-ATP8 | c.174C>G (p.Ile58Met) c.13C>G (p.Leu5Val) | |
| MT | m.8539C>T | CA645611397 | MT-ATP6,MT-ATP8 | c.174C>T (p.Ile58=) c.13C>T (p.Leu5=) | COSMIC COSMIC |
| MT | m.8540T>A | CA414796575 | MT-ATP6,MT-ATP8 | c.175T>A (p.Cys59Ser) c.14T>A (p.Leu5Gln) | |
| MT | m.8540T>C | CA10581248 | MT-ATP6,MT-ATP8 | c.175T>C (p.Cys59Arg) c.14T>C (p.Leu5Pro) | ClinVar dbSNP |
| MT | m.8540T>G | CA414796578 | MT-ATP6,MT-ATP8 | c.175T>G (p.Cys59Gly) c.14T>G (p.Leu5Arg) | |
| MT | m.8540T= | CA2499565725 | MT-ATP6,MT-ATP8 | c.175T= (p.Cys59=) c.14T= (p.Leu5=) | |
| MT | m.8541G>A | CA414796580 | MT-ATP6,MT-ATP8 | c.176G>A (p.Cys59Tyr) c.15G>A (p.Leu5=) | ClinVar dbSNP |
| MT | m.8541G>C | CA414796582 | MT-ATP6,MT-ATP8 | c.176G>C (p.Cys59Ser) c.15G>C (p.Leu5=) | |
| MT | m.8541G= | CA2499565726 | MT-ATP6,MT-ATP8 | c.176G= (p.Cys59=) c.15G= (p.Leu5=) | |
| MT | m.8541G>T | CA414796584 | MT-ATP6,MT-ATP8 | c.176G>T (p.Cys59Phe) c.15G>T (p.Leu5=) | |
| MT | m.8542T>A | CA414796586 | MT-ATP6,MT-ATP8 | c.177T>A (p.Cys59Ter) c.16T>A (p.Phe6Ile) | |
| MT | m.8542T>C | CA414796588 | MT-ATP6,MT-ATP8 | c.177T>C (p.Cys59=) c.16T>C (p.Phe6Leu) | ClinVar dbSNP |
| MT | m.8542T>G | CA414796589 | MT-ATP6,MT-ATP8 | c.177T>G (p.Cys59Trp) c.16T>G (p.Phe6Val) | |
| MT | m.8542T= | CA2499565727 | MT-ATP6,MT-ATP8 | c.177T= (p.Cys59=) c.16T= (p.Phe6=) | |
| MT | m.8543T>A | CA414796592 | MT-ATP6,MT-ATP8 | c.178T>A (p.Ser60Thr) c.17T>A (p.Phe6Tyr) | |
| MT | m.8543T>C | CA414796594 | MT-ATP6,MT-ATP8 | c.178T>C (p.Ser60Pro) c.17T>C (p.Phe6Ser) | dbSNP |
| MT | m.8543T>G | CA414796596 | MT-ATP6,MT-ATP8 | c.178T>G (p.Ser60Ala) c.17T>G (p.Phe6Cys) | |
| MT | m.8543T= | CA2499565728 | MT-ATP6,MT-ATP8 | c.178T= (p.Ser60=) c.17T= (p.Phe6=) | |
| MT | m.8544C>A | CA414796601 | MT-ATP6,MT-ATP8 | c.179C>A (p.Ser60Ter) c.18C>A (p.Phe6Leu) | |
| MT | m.8544C= | CA2573329751 | MT-ATP6,MT-ATP8 | c.179C= (p.Ser60=) c.18C= (p.Phe6=) | |
| MT | m.8544C>G | CA414796603 | MT-ATP6,MT-ATP8 | c.179C>G (p.Ser60Trp) c.18C>G (p.Phe6Leu) | |
| MT | m.8544C>T | CA414796599 | MT-ATP6,MT-ATP8 | c.179C>T (p.Ser60Leu) c.18C>T (p.Phe6=) | |
| MT | m.8545G>A | CA414796605 | MT-ATP6,MT-ATP8 | c.180G>A (p.Ser60=) c.19G>A (p.Ala7Thr) | ClinVar dbSNP |
| MT | m.8545G>C | CA414796609 | MT-ATP6,MT-ATP8 | c.180G>C (p.Ser60=) c.19G>C (p.Ala7Pro) | |
| MT | m.8545G= | CA2499565729 | MT-ATP6,MT-ATP8 | c.180G= (p.Ser60=) c.19G= (p.Ala7=) | |
| MT | m.8545G>T | CA414796607 | MT-ATP6,MT-ATP8 | c.180G>T (p.Ser60=) c.19G>T (p.Ala7Ser) | |
| MT | m.8546C>A | CA414796612 | MT-ATP6,MT-ATP8 | c.181C>A (p.Leu61Ile) c.20C>A (p.Ala7Asp) | |
| MT | m.8546C= | CA2573329756 | MT-ATP6,MT-ATP8 | c.181C= (p.Leu61=) c.20C= (p.Ala7=) | |
| MT | m.8546C>G | CA414796616 | MT-ATP6,MT-ATP8 | c.181C>G (p.Leu61Val) c.20C>G (p.Ala7Gly) | |
| MT | m.8546C>T | CA414796614 | MT-ATP6,MT-ATP8 | c.181C>T (p.Leu61Phe) c.20C>T (p.Ala7Val) | |
| MT | m.8547T>A | CA414796618 | MT-ATP6,MT-ATP8 | c.182T>A (p.Leu61His) c.21T>A (p.Ala7=) | |
| MT | m.8547T>C | CA414796619 | MT-ATP6,MT-ATP8 | c.182T>C (p.Leu61Pro) c.21T>C (p.Ala7=) | ClinVar dbSNP |
| MT | m.8547T>G | CA414796622 | MT-ATP6,MT-ATP8 | c.182T>G (p.Leu61Arg) c.21T>G (p.Ala7=) | |
| MT | m.8547T= | CA2499565730 | MT-ATP6,MT-ATP8 | c.182T= (p.Leu61=) c.21T= (p.Ala7=) | |
| MT | m.8548T>A | CA414796623 | MT-ATP6,MT-ATP8 | c.183T>A (p.Leu61=) c.22T>A (p.Ser8Thr) | |
| MT | m.8548T>C | CA414796626 | MT-ATP6,MT-ATP8 | c.183T>C (p.Leu61=) c.22T>C (p.Ser8Pro) | ClinVar dbSNP |
| MT | m.8548T>G | CA414796628 | MT-ATP6,MT-ATP8 | c.183T>G (p.Leu61=) c.22T>G (p.Ser8Ala) | |
| MT | m.8548T= | CA2499565731 | MT-ATP6,MT-ATP8 | c.183T= (p.Leu61=) c.22T= (p.Ser8=) | |
| MT | m.8549C>A | CA414796630 | MT-ATP6,MT-ATP8 | c.184C>A (p.His62Asn) c.23C>A (p.Ser8Ter) | |
| MT | m.8549C= | CA2573329763 | MT-ATP6,MT-ATP8 | c.184C= (p.His62=) c.23C= (p.Ser8=) | |
| MT | m.8549C>G | CA414796632 | MT-ATP6,MT-ATP8 | c.184C>G (p.His62Asp) c.23C>G (p.Ser8Ter) | |
| MT | m.8549C>T | CA414796634 | MT-ATP6,MT-ATP8 | c.184C>T (p.His62Tyr) c.23C>T (p.Ser8Leu) | dbSNP |
| MT | m.8550A= | CA2499565732 | MT-ATP6,MT-ATP8 | c.185A= (p.His62=) c.24A= (p.Ser8=) | |
| MT | m.8550A>C | CA414796639 | MT-ATP6,MT-ATP8 | c.185A>C (p.His62Pro) c.24A>C (p.Ser8=) | |
| MT | m.8550A>G | CA414796637 | MT-ATP6,MT-ATP8 | c.185A>G (p.His62Arg) c.24A>G (p.Ser8=) | ClinVar dbSNP |
| MT | m.8550A>T | CA414796636 | MT-ATP6,MT-ATP8 | c.185A>T (p.His62Leu) c.24A>T (p.Ser8=) | |
| MT | m.8551T>A | CA414796641 | MT-ATP6,MT-ATP8 | c.186T>A (p.His62Gln) c.25T>A (p.Phe9Ile) | |
| MT | m.8551T>C | CA414796643 | MT-ATP6,MT-ATP8 | c.186T>C (p.His62=) c.25T>C (p.Phe9Leu) | ClinVar dbSNP |
| MT | m.8551T>G | CA414796645 | MT-ATP6,MT-ATP8 | c.186T>G (p.His62Gln) c.25T>G (p.Phe9Val) | |
| MT | m.8551T= | CA2499565733 | MT-ATP6,MT-ATP8 | c.186T= (p.His62=) c.25T= (p.Phe9=) | |
| MT | m.8552T>A | CA414796647 | MT-ATP6,MT-ATP8 | c.187T>A (p.Ser63Thr) c.26T>A (p.Phe9Tyr) | |
| MT | m.8552T>C | CA414796648 | MT-ATP6,MT-ATP8 | c.187T>C (p.Ser63Pro) c.26T>C (p.Phe9Ser) | ClinVar dbSNP |
| MT | m.8552T>G | CA414796652 | MT-ATP6,MT-ATP8 | c.187T>G (p.Ser63Ala) c.26T>G (p.Phe9Cys) | |
| MT | m.8552T= | CA2499565734 | MT-ATP6,MT-ATP8 | c.187T= (p.Ser63=) c.26T= (p.Phe9=) | |
| MT | m.8552_8553insTTGGTTCT | CA2573105011 | MT-ATP6,MT-ATP8 | c.187_188insTTGGTTCT (p.Ser63PhefsTer?) c.26_27insTTGGTTCT (p.Ile10TrpfsTer9) | |
| MT | m.8553C>A | CA414796655 | MT-ATP6,MT-ATP8 | c.188C>A (p.Ser63Ter) c.27C>A (p.Phe9Leu) | |
| MT | m.8553C= | CA2499565735 | MT-ATP6,MT-ATP8 | c.188C= (p.Ser63=) c.27C= (p.Phe9=) | |
| MT | m.8553C>G | CA414796659 | MT-ATP6,MT-ATP8 | c.188C>G (p.Ser63Ter) c.27C>G (p.Phe9Leu) | |
| MT | m.8553C>T | CA414796661 | MT-ATP6,MT-ATP8 | c.188C>T (p.Ser63Leu) c.27C>T (p.Phe9=) | ClinVar dbSNP |
| MT | m.8554A= | CA2499565736 | MT-ATP6,MT-ATP8 | c.189A= (p.Ser63=) c.28A= (p.Ile10=) | |
| MT | m.8554A>C | CA414796667 | MT-ATP6,MT-ATP8 | c.189A>C (p.Ser63=) c.28A>C (p.Ile10Leu) | |
| MT | m.8554A>G | CA414796665 | MT-ATP6,MT-ATP8 | c.189A>G (p.Ser63=) c.28A>G (p.Ile10Val) | ClinVar dbSNP |
| MT | m.8554A>T | CA414796664 | MT-ATP6,MT-ATP8 | c.189A>T (p.Ser63=) c.28A>T (p.Ile10Phe) | |
| MT | m.8554_8555insGGG | CA2573105012 | MT-ATP6,MT-ATP8 | c.189_190insGGG (p.Ser63_Leu64insGly) c.28_29insGGG (p.Ile10delinsArgVal) | |
| MT | m.8555T>A | CA414796669 | MT-ATP6,MT-ATP8 | c.190T>A (p.Leu64Met) c.29T>A (p.Ile10Asn) | |
| MT | m.8555T>C | CA414796671 | MT-ATP6,MT-ATP8 | c.190T>C (p.Leu64=) c.29T>C (p.Ile10Thr) | dbSNP |
| MT | m.8555T>G | CA414796673 | MT-ATP6,MT-ATP8 | c.190T>G (p.Leu64Val) c.29T>G (p.Ile10Ser) | |
| MT | m.8555T= | CA2499565737 | MT-ATP6,MT-ATP8 | c.190T= (p.Leu64=) c.29T= (p.Ile10=) | |
| MT | m.8556T>A | CA414796674 | MT-ATP6,MT-ATP8 | c.191T>A (p.Leu64Ter) c.30T>A (p.Ile10=) | |
| MT | m.8556T>C | CA414796676 | MT-ATP6,MT-ATP8 | c.191T>C (p.Leu64Ser) c.30T>C (p.Ile10=) | |
| MT | m.8556T>G | CA414796677 | MT-ATP6,MT-ATP8 | c.191T>G (p.Leu64Trp) c.30T>G (p.Ile10Met) | |
| MT | m.8556T= | CA2573329777 | MT-ATP6,MT-ATP8 | c.191T= (p.Leu64=) c.30T= (p.Ile10=) | |
| MT | m.8556_8557insTGTTATAATTTTTTATTTTTATGGGCTTTGGTGAGGGAGGTAGGTGGTAGTTTGTGTTTAATATTTTTAGTTGGGTGATGAGGAATAGTGTAAGGAGTATG | CA2573105013 | MT-ATP6,MT-ATP8 | c.191_192insTGTTATAATTTTTTATTTTTATGGGCTTTGGTGAGGGAGGTAGGTGGTAGTTTGTGTTTAATATTTTTAGTTGGGTGATGAGGAATAGTGTAAGGAGTATG (p.Leu64PhefsTer12) c.30_31insTGTTATAATTTTTTATTTTTATGGGCTTTGGTGAGGGAGGTAGGTGGTAGTTTGTGTTTAATATTTTTAGTTGGGTGATGAGGAATAGTGTAAGGAGTATG (p.Ala11CysfsTer26) | |
| MT | m.8557G>A | CA414796680 | MT-ATP6,MT-ATP8 | c.192G>A (p.Leu64=) c.31G>A (p.Ala11Thr) | ClinVar dbSNP |
| MT | m.8557G>C | CA337097920 | MT-ATP6,MT-ATP8 | c.192G>C (p.Leu64Phe) c.31G>C (p.Ala11Pro) | ClinVar dbSNP |
| MT | m.8557G= | CA2499565738 | MT-ATP6,MT-ATP8 | c.192G= (p.Leu64=) c.31G= (p.Ala11=) | |
| MT | m.8557G>T | CA337097917 | MT-ATP6,MT-ATP8 | c.192G>T (p.Leu64Phe) c.31G>T (p.Ala11Ser) | |
| MT | m.8558C>A | CA414796684 | MT-ATP6,MT-ATP8 | c.193C>A (p.Pro65Thr) c.32C>A (p.Ala11Asp) | |
| MT | m.8558C= | CA2499565739 | MT-ATP6,MT-ATP8 | c.193C= (p.Pro65=) c.32C= (p.Ala11=) | |
| MT | m.8558C>G | CA414796686 | MT-ATP6,MT-ATP8 | c.193C>G (p.Pro65Ala) c.32C>G (p.Ala11Gly) | |
| MT | m.8558C>T | CA414796687 | MT-ATP6,MT-ATP8 | c.193C>T (p.Pro65Ser) c.32C>T (p.Ala11Val) | dbSNP |
| MT | m.8562dup | CA2740098135 | MT-ATP6,MT-ATP8 | c.197dup (p.Gln67ThrfsTer?) c.36dup (p.Thr13HisfsTer?) | |
| MT | m.8559C>A | CA414796692 | MT-ATP6,MT-ATP8 | c.194C>A (p.Pro65His) c.33C>A (p.Ala11=) | |
| MT | m.8559C= | CA2573329782 | MT-ATP6,MT-ATP8 | c.194C= (p.Pro65=) c.33C= (p.Ala11=) | |
| MT | m.8559C>G | CA414796696 | MT-ATP6,MT-ATP8 | c.194C>G (p.Pro65Arg) c.33C>G (p.Ala11=) | |
| MT | m.8559C>T | CA414796694 | MT-ATP6,MT-ATP8 | c.194C>T (p.Pro65Leu) c.33C>T (p.Ala11=) | |
| MT | m.8560C>A | CA414796697 | MT-ATP6,MT-ATP8 | c.195C>A (p.Pro65=) c.34C>A (p.Pro12Thr) | |
| MT | m.8560C= | CA2499565740 | MT-ATP6,MT-ATP8 | c.195C= (p.Pro65=) c.34C= (p.Pro12=) | |
| MT | m.8560C>G | CA414796698 | MT-ATP6,MT-ATP8 | c.195C>G (p.Pro65=) c.34C>G (p.Pro12Ala) | |
| MT | m.8560C>T | CA414796699 | MT-ATP6,MT-ATP8 | c.195C>T (p.Pro65=) c.34C>T (p.Pro12Ser) | |
| MT | m.8561C>A | CA414796700 | MT-ATP6,MT-ATP8 | c.196C>A (p.Pro66Thr) c.35C>A (p.Pro12His) | |
| MT | m.8561C= | CA2573329789 | MT-ATP6,MT-ATP8 | c.196C= (p.Pro66=) c.35C= (p.Pro12=) | |
| MT | m.8561C>G | CA414796701 | MT-ATP6,MT-ATP8 | c.196C>G (p.Pro66Ala) c.35C>G (p.Pro12Arg) | |
| MT | m.8561C>T | CA414796702 | MT-ATP6,MT-ATP8 | c.196C>T (p.Pro66Ser) c.35C>T (p.Pro12Leu) | |
| MT | m.8562_8564dup | CA913190826 | MT-ATP6,MT-ATP8 | c.197_199dup (p.Pro66_Gln67insPro) c.36_38dup (p.Thr13_Ile14insThr) | ClinVar dbSNP |
| MT | m.8562C>A | CA414796704 | MT-ATP6,MT-ATP8 | c.197C>A (p.Pro66Gln) c.36C>A (p.Pro12=) | |
| MT | m.8562C= | CA2499565741 | MT-ATP6,MT-ATP8 | c.197C= (p.Pro66=) c.36C= (p.Pro12=) | |
| MT | m.8562C>G | CA414796706 | MT-ATP6,MT-ATP8 | c.197C>G (p.Pro66Arg) c.36C>G (p.Pro12=) | |
| MT | m.8562C>T | CA414796708 | MT-ATP6,MT-ATP8 | c.197C>T (p.Pro66Leu) c.36C>T (p.Pro12=) | ClinVar dbSNP |
| MT | m.8563A= | CA2499565742 | MT-ATP6,MT-ATP8 | c.198A= (p.Pro66=) c.37A= (p.Thr13=) | |
| MT | m.8563A>C | CA337097921 | MT-ATP6,MT-ATP8 | c.198A>C (p.Pro66=) c.37A>C (p.Thr13Pro) | |
| MT | m.8563A>G | CA414796712 | MT-ATP6,MT-ATP8 | c.198A>G (p.Pro66=) c.37A>G (p.Thr13Ala) | ClinVar dbSNP |
| MT | m.8563A>T | CA337097923 | MT-ATP6,MT-ATP8 | c.198A>T (p.Pro66=) c.37A>T (p.Thr13Ser) | |
| MT | m.8564C>A | CA414796719 | MT-ATP6,MT-ATP8 | c.199C>A (p.Gln67Lys) c.38C>A (p.Thr13Lys) | |
| MT | m.8564C= | CA2573329795 | MT-ATP6,MT-ATP8 | c.199C= (p.Gln67=) c.38C= (p.Thr13=) | |
| MT | m.8564C>G | CA414796715 | MT-ATP6,MT-ATP8 | c.199C>G (p.Gln67Glu) c.38C>G (p.Thr13Arg) | |
| MT | m.8564C>T | CA414796717 | MT-ATP6,MT-ATP8 | c.199C>T (p.Gln67Ter) c.38C>T (p.Thr13Ile) | |
| MT | m.8564dup | CA2573105014 | MT-ATP6,MT-ATP8 | c.199dup (p.Gln67ProfsTer?) c.38dup (p.Ile14AsnfsTer?) | |
| MT | m.8564_8565insT | CA2573105015 | MT-ATP6,MT-ATP8 | c.199_200insT (p.Gln67LeufsTer?) c.38_39insT (p.Ile14AsnfsTer?) | |
| MT | m.8565A= | CA2499565743 | MT-ATP6,MT-ATP8 | c.200A= (p.Gln67=) c.39A= (p.Thr13=) | |
| MT | m.8565A>C | CA414796721 | MT-ATP6,MT-ATP8 | c.200A>C (p.Gln67Pro) c.39A>C (p.Thr13=) | |
| MT | m.8565A>G | CA10581330 | MT-ATP6,MT-ATP8 | c.200A>G (p.Gln67Arg) c.39A>G (p.Thr13=) | ClinVar dbSNP |
| MT | m.8565A>T | CA414796724 | MT-ATP6,MT-ATP8 | c.200A>T (p.Gln67Leu) c.39A>T (p.Thr13=) | |
| MT | m.8566A= | CA2499565744 | MT-ATP6,MT-ATP8 | c.201A= (p.Gln67=) c.40A= (p.Ile14=) | |
| MT | m.8566A>C | CA414796725 | MT-ATP6,MT-ATP8 | c.201A>C (p.Gln67His) c.40A>C (p.Ile14Leu) | |
| MT | m.8566A>G | CA337097927 | MT-ATP6,MT-ATP8 | c.201A>G (p.Gln67=) c.40A>G (p.Ile14Val) | ClinVar dbSNP |
| MT | m.8566A>T | CA414796728 | MT-ATP6,MT-ATP8 | c.201A>T (p.Gln67His) c.40A>T (p.Ile14Phe) | |
| MT | m.8567T>A | CA414796730 | MT-ATP6,MT-ATP8 | c.202T>A (p.Ser68Thr) c.41T>A (p.Ile14Asn) | |
| MT | m.8567T>C | CA414796731 | MT-ATP6,MT-ATP8 | c.202T>C (p.Ser68Pro) c.41T>C (p.Ile14Thr) | ClinVar dbSNP |
| MT | m.8567T>G | CA414796734 | MT-ATP6,MT-ATP8 | c.202T>G (p.Ser68Ala) c.41T>G (p.Ile14Ser) | |
| MT | m.8567T= | CA2499565745 | MT-ATP6,MT-ATP8 | c.202T= (p.Ser68=) c.41T= (p.Ile14=) | |
| MT | m.8568C>A | CA414796741 | MT-ATP6,MT-ATP8 | c.203C>A (p.Ser68Tyr) c.42C>A (p.Ile14=) | ClinVar dbSNP |
| MT | m.8568C= | CA2499565746 | MT-ATP6,MT-ATP8 | c.203C= (p.Ser68=) c.42C= (p.Ile14=) | |
| MT | m.8568C>G | CA414796738 | MT-ATP6,MT-ATP8 | c.203C>G (p.Ser68Cys) c.42C>G (p.Ile14Met) | |
| MT | m.8568C>T | CA414796736 | MT-ATP6,MT-ATP8 | c.203C>T (p.Ser68Phe) c.42C>T (p.Ile14=) | ClinVar dbSNP |
| MT | m.8569C>A | CA414796743 | MT-ATP6,MT-ATP8 | c.204C>A (p.Ser68=) c.43C>A (p.Leu15Ile) | |
| MT | m.8569C= | CA2499565747 | MT-ATP6,MT-ATP8 | c.204C= (p.Ser68=) c.43C= (p.Leu15=) | |
| MT | m.8569C>G | CA414796745 | MT-ATP6,MT-ATP8 | c.204C>G (p.Ser68=) c.43C>G (p.Leu15Val) | |
| MT | m.8569C>T | CA913179405 | MT-ATP6,MT-ATP8 | c.204C>T (p.Ser68=) c.43C>T (p.Leu15=) | dbSNP |
| MT | m.8570T>A | CA414796747 | MT-ATP6,MT-ATP8 | c.205T>A (p.Ter69Lys) c.44T>A (p.Leu15Gln) | |
| MT | m.8570T>C | CA414796749 | MT-ATP6,MT-ATP8 | c.205T>C (p.Ter69Gln) c.44T>C (p.Leu15Pro) | dbSNP |
| MT | m.8570T>G | CA414796751 | MT-ATP6,MT-ATP8 | c.205T>G (p.Ter69Glu) c.44T>G (p.Leu15Arg) | |
| MT | m.8570T= | CA2499565748 | MT-ATP6,MT-ATP8 | c.205T= (p.Ter69=) c.44T= (p.Leu15=) | |
| MT | m.8570_8577del | CA2573105016 | MT-ATP6 | c.44_51del (p.Leu15ProfsTer?) | |
| MT | m.8571A= | CA2513268569 | MT-ATP6,MT-ATP8 | c.206A= (p.Ter69=) c.45A= (p.Leu15=) | |
| MT | m.8571A>C | CA414796753 | MT-ATP6,MT-ATP8 | c.206A>C (p.Ter69Ser) c.45A>C (p.Leu15=) | |
| MT | m.8571A>G | CA414796755 | MT-ATP6,MT-ATP8 | c.206A>G (p.Ter69Trp) c.45A>G (p.Leu15=) | |
| MT | m.8571A>T | CA414796756 | MT-ATP6,MT-ATP8 | c.206A>T (p.Ter69Leu) c.45A>T (p.Leu15=) | |
| MT | m.8572G>A | CA337097930 | MT-ATP6,MT-ATP8 | c.207G>A (p.Ter69=) c.46G>A (p.Gly16Ser) | ClinVar dbSNP |
| MT | m.8572G>C | CA414796757 | MT-ATP6,MT-ATP8 | c.207G>C (p.Ter69Tyr) c.46G>C (p.Gly16Arg) | |
| MT | m.8572G= | CA2499565749 | MT-ATP6,MT-ATP8 | c.207G= (p.Ter69=) c.46G= (p.Gly16=) | |
| MT | m.8572G>T | CA414796759 | MT-ATP6,MT-ATP8 | c.207G>T (p.Ter69Tyr) c.46G>T (p.Gly16Cys) | |
| MT | m.8573G>A | CA414796767 | MT-ATP6 | c.47G>A (p.Gly16Asp) | ClinVar dbSNP |
| MT | m.8573G>C | CA414796765 | MT-ATP6 | c.47G>C (p.Gly16Ala) | |
| MT | m.8573G= | CA2499565750 | MT-ATP6 | c.47G= (p.Gly16=) | |
| MT | m.8573G>T | CA414796763 | MT-ATP6 | c.47G>T (p.Gly16Val) | |
| MT | m.8574C>A | CA913179412 | MT-ATP6 | c.48C>A (p.Gly16=) | |
| MT | m.8574C= | CA2499565751 | MT-ATP6 | c.48C= (p.Gly16=) | |
| MT | m.8574C>G | CA913179411 | MT-ATP6 | c.48C>G (p.Gly16=) | |
| MT | m.8574C>T | CA913179410 | MT-ATP6 | c.48C>T (p.Gly16=) | dbSNP |
| MT | m.8575C>A | CA414796769 | MT-ATP6 | c.49C>A (p.Leu17Ile) | |
| MT | m.8575C= | CA2499565752 | MT-ATP6 | c.49C= (p.Leu17=) | |
| MT | m.8575C>G | CA414796770 | MT-ATP6 | c.49C>G (p.Leu17Val) | |
| MT | m.8575C>T | CA913179413 | MT-ATP6 | c.49C>T (p.Leu17=) | dbSNP |
| MT | m.8576T>A | CA414796771 | MT-ATP6 | c.50T>A (p.Leu17Gln) | |
| MT | m.8576T>C | CA414796772 | MT-ATP6 | c.50T>C (p.Leu17Pro) | ClinVar dbSNP |
| MT | m.8576T>G | CA414796775 | MT-ATP6 | c.50T>G (p.Leu17Arg) | |
| MT | m.8576T= | CA2499565753 | MT-ATP6 | c.50T= (p.Leu17=) | |
| MT | m.8577A= | CA2499565754 | MT-ATP6 | c.51A= (p.Leu17=) | |
| MT | m.8577A>C | CA913179417 | MT-ATP6 | c.51A>C (p.Leu17=) | dbSNP |
| MT | m.8577A>G | CA913179416 | MT-ATP6 | c.51A>G (p.Leu17=) | dbSNP |
| MT | m.8577A>T | CA913179415 | MT-ATP6 | c.51A>T (p.Leu17=) | |
| MT | m.8578C>A | CA414796777 | MT-ATP6 | c.52C>A (p.Pro18Thr) | |
| MT | m.8578C= | CA2499565755 | MT-ATP6 | c.52C= (p.Pro18=) | |
| MT | m.8578C>G | CA414796779 | MT-ATP6 | c.52C>G (p.Pro18Ala) | |
| MT | m.8578C>T | CA414796782 | MT-ATP6 | c.52C>T (p.Pro18Ser) | ClinVar dbSNP |
| MT | m.8579C>A | CA414796789 | MT-ATP6 | c.53C>A (p.Pro18His) | |
| MT | m.8579C= | CA2573329872 | MT-ATP6 | c.53C= (p.Pro18=) | |
| MT | m.8579C>G | CA414796791 | MT-ATP6 | c.53C>G (p.Pro18Arg) | |
| MT | m.8579C>T | CA414796793 | MT-ATP6 | c.53C>T (p.Pro18Leu) | dbSNP |
| MT | m.8580C>A | CA913179424 | MT-ATP6 | c.54C>A (p.Pro18=) | |
| MT | m.8580C= | CA2499565756 | MT-ATP6 | c.54C= (p.Pro18=) | |
| MT | m.8580C>G | CA913179423 | MT-ATP6 | c.54C>G (p.Pro18=) | |
| MT | m.8580C>T | CA913179422 | MT-ATP6 | c.54C>T (p.Pro18=) | dbSNP |
| MT | m.8581G>A | CA414796797 | MT-ATP6 | c.55G>A (p.Ala19Thr) | ClinVar dbSNP |
| MT | m.8581G>C | CA414796796 | MT-ATP6 | c.55G>C (p.Ala19Pro) | |
| MT | m.8581G= | CA2499565757 | MT-ATP6 | c.55G= (p.Ala19=) | |
| MT | m.8581G>T | CA414796794 | MT-ATP6 | c.55G>T (p.Ala19Ser) | |
| MT | m.8582C>A | CA414796799 | MT-ATP6 | c.56C>A (p.Ala19Asp) | |
| MT | m.8582C= | CA2499565758 | MT-ATP6 | c.56C= (p.Ala19=) | |
| MT | m.8582C>G | CA414796801 | MT-ATP6 | c.56C>G (p.Ala19Gly) | |
| MT | m.8582C>T | CA414796803 | MT-ATP6 | c.56C>T (p.Ala19Val) | ClinVar dbSNP |
| MT | m.8583C>A | CA913179428 | MT-ATP6 | c.57C>A (p.Ala19=) | |
| MT | m.8583C= | CA2499565759 | MT-ATP6 | c.57C= (p.Ala19=) | |
| MT | m.8583C>G | CA913179427 | MT-ATP6 | c.57C>G (p.Ala19=) | |
| MT | m.8583C>T | CA913179426 | MT-ATP6 | c.57C>T (p.Ala19=) | dbSNP |
| MT | m.8584G>A | CA337097932 | MT-ATP6 | c.58G>A (p.Ala20Thr) | ClinVar dbSNP |
| MT | m.8584G>C | CA414796806 | MT-ATP6 | c.58G>C (p.Ala20Pro) | |
| MT | m.8584G= | CA2499565760 | MT-ATP6 | c.58G= (p.Ala20=) | |
| MT | m.8584G>T | CA414796807 | MT-ATP6 | c.58G>T (p.Ala20Ser) | |
| MT | m.8585C>A | CA414796810 | MT-ATP6 | c.59C>A (p.Ala20Glu) | |
| MT | m.8585C= | CA2573329887 | MT-ATP6 | c.59C= (p.Ala20=) | |
| MT | m.8585C>G | CA414796811 | MT-ATP6 | c.59C>G (p.Ala20Gly) | |
| MT | m.8585C>T | CA414796813 | MT-ATP6 | c.59C>T (p.Ala20Val) | |
| MT | m.8587_12967del | CA645373337 | ClinVar | ||
| MT | m.8586A= | CA2573329892 | MT-ATP6 | c.60A= (p.Ala20=) | |
| MT | m.8586A>C | CA913179435 | MT-ATP6 | c.60A>C (p.Ala20=) | |
| MT | m.8586A>G | CA913179434 | MT-ATP6 | c.60A>G (p.Ala20=) | |
| MT | m.8586A>T | CA913179433 | MT-ATP6 | c.60A>T (p.Ala20=) | |
| MT | m.8587G>A | CA414796815 | MT-ATP6 | c.61G>A (p.Val21Ile) | dbSNP |
| MT | m.8587G>C | CA414796817 | MT-ATP6 | c.61G>C (p.Val21Leu) | |
| MT | m.8587G= | CA2499565761 | MT-ATP6 | c.61G= (p.Val21=) | |
| MT | m.8587G>T | CA414796818 | MT-ATP6 | c.61G>T (p.Val21Leu) | |
| MT | m.8588T>A | CA414796823 | MT-ATP6 | c.62T>A (p.Val21Glu) | |
| MT | m.8588T>C | CA414796824 | MT-ATP6 | c.62T>C (p.Val21Ala) | ClinVar dbSNP |
| MT | m.8588T>G | CA414796821 | MT-ATP6 | c.62T>G (p.Val21Gly) | |
| MT | m.8588T= | CA2499565762 | MT-ATP6 | c.62T= (p.Val21=) | |
| MT | m.8589A= | CA2499565763 | MT-ATP6 | c.63A= (p.Val21=) | |
| MT | m.8589A>C | CA913179441 | MT-ATP6 | c.63A>C (p.Val21=) | |
| MT | m.8589A>G | CA913179440 | MT-ATP6 | c.63A>G (p.Val21=) | dbSNP |
| MT | m.8589A>T | CA913179439 | MT-ATP6 | c.63A>T (p.Val21=) | |
| MT | m.8590C>A | CA414796828 | MT-ATP6 | c.64C>A (p.Leu22Met) | |
| MT | m.8590C= | CA2573329900 | MT-ATP6 | c.64C= (p.Leu22=) | |
| MT | m.8590C>G | CA414796827 | MT-ATP6 | c.64C>G (p.Leu22Val) | |
| MT | m.8590C>T | CA913179442 | MT-ATP6 | c.64C>T (p.Leu22=) | |
| MT | m.8591T>A | CA414796832 | MT-ATP6 | c.65T>A (p.Leu22Gln) | |
| MT | m.8591T>C | CA414796830 | MT-ATP6 | c.65T>C (p.Leu22Pro) | ClinVar dbSNP |
| MT | m.8591T>G | CA414796834 | MT-ATP6 | c.65T>G (p.Leu22Arg) | |
| MT | m.8591T= | CA2499565764 | MT-ATP6 | c.65T= (p.Leu22=) | |
| MT | m.8592G>A | CA913179443 | MT-ATP6 | c.66G>A (p.Leu22=) | dbSNP |
| MT | m.8592G>C | CA913179445 | MT-ATP6 | c.66G>C (p.Leu22=) | |
| MT | m.8592G= | CA2499565765 | MT-ATP6 | c.66G= (p.Leu22=) | |
| MT | m.8592G>T | CA913179444 | MT-ATP6 | c.66G>T (p.Leu22=) | |
| MT | m.8593A= | CA2499565766 | MT-ATP6 | c.67A= (p.Ile23=) | |
| MT | m.8593A>C | CA414796836 | MT-ATP6 | c.67A>C (p.Ile23Leu) | |
| MT | m.8593A>G | CA414796838 | MT-ATP6 | c.67A>G (p.Ile23Val) | ClinVar dbSNP |
| MT | m.8593A>T | CA414796840 | MT-ATP6 | c.67A>T (p.Ile23Phe) | |
| MT | m.8594T>A | CA414796842 | MT-ATP6 | c.68T>A (p.Ile23Asn) | |
| MT | m.8594T>C | CA414796844 | MT-ATP6 | c.68T>C (p.Ile23Thr) | dbSNP |
| MT | m.8594T>G | CA414796845 | MT-ATP6 | c.68T>G (p.Ile23Ser) | |
| MT | m.8594T= | CA2499565767 | MT-ATP6 | c.68T= (p.Ile23=) | |
| MT | m.8595C>A | CA913179448 | MT-ATP6 | c.69C>A (p.Ile23=) | |
| MT | m.8595C= | CA2499565768 | MT-ATP6 | c.69C= (p.Ile23=) | |
| MT | m.8595C>G | CA414796847 | MT-ATP6 | c.69C>G (p.Ile23Met) | |
| MT | m.8595C>T | CA913179447 | MT-ATP6 | c.69C>T (p.Ile23=) | dbSNP |
| MT | m.8596A= | CA2499565769 | MT-ATP6 | c.70A= (p.Ile24=) | |
| MT | m.8596A>C | CA414796850 | MT-ATP6 | c.70A>C (p.Ile24Leu) | |
| MT | m.8596A>G | CA414796851 | MT-ATP6 | c.70A>G (p.Ile24Val) | ClinVar dbSNP |
| MT | m.8596A>T | CA414796853 | MT-ATP6 | c.70A>T (p.Ile24Phe) | |
| MT | m.8597T>A | CA414796859 | MT-ATP6 | c.71T>A (p.Ile24Asn) | |
| MT | m.8597T>C | CA414796857 | MT-ATP6 | c.71T>C (p.Ile24Thr) | ClinVar dbSNP |
| MT | m.8597T>G | CA414796856 | MT-ATP6 | c.71T>G (p.Ile24Ser) | |
| MT | m.8597T= | CA2499565770 | MT-ATP6 | c.71T= (p.Ile24=) | |
| MT | m.8598T>A | CA913179449 | MT-ATP6 | c.72T>A (p.Ile24=) | |
| MT | m.8598T>C | CA337097934 | MT-ATP6 | c.72T>C (p.Ile24=) | dbSNP |
| MT | m.8598T>G | CA414796861 | MT-ATP6 | c.72T>G (p.Ile24Met) | |
| MT | m.8598T= | CA2499565771 | MT-ATP6 | c.72T= (p.Ile24=) | |
| MT | m.8599C>A | CA414796864 | MT-ATP6 | c.73C>A (p.Leu25Ile) | ClinVar dbSNP |
| MT | m.8599C= | CA2499565772 | MT-ATP6 | c.73C= (p.Leu25=) | |
| MT | m.8599C>G | CA414796866 | MT-ATP6 | c.73C>G (p.Leu25Val) | |
| MT | m.8599C>T | CA913179450 | MT-ATP6 | c.73C>T (p.Leu25=) | |
| MT | m.8600T>A | CA414796869 | MT-ATP6 | c.74T>A (p.Leu25Gln) | |
| MT | m.8600T>C | CA414796871 | MT-ATP6 | c.74T>C (p.Leu25Pro) | |
| MT | m.8600T>G | CA414796872 | MT-ATP6 | c.74T>G (p.Leu25Arg) | |
| MT | m.8600T= | CA2573329915 | MT-ATP6 | c.74T= (p.Leu25=) | |
| MT | m.8601A= | CA2573329918 | MT-ATP6 | c.75A= (p.Leu25=) | |
| MT | m.8601A>C | CA913179456 | MT-ATP6 | c.75A>C (p.Leu25=) | |
| MT | m.8601A>G | CA913179455 | MT-ATP6 | c.75A>G (p.Leu25=) | |
| MT | m.8601A>T | CA913179454 | MT-ATP6 | c.75A>T (p.Leu25=) | |
| MT | m.8602T>A | CA414796875 | MT-ATP6 | c.76T>A (p.Phe26Ile) | |
| MT | m.8602T>C | CA414796877 | MT-ATP6 | c.76T>C (p.Phe26Leu) | ClinVar dbSNP |
| MT | m.8602T>G | CA414796878 | MT-ATP6 | c.76T>G (p.Phe26Val) | |
| MT | m.8602T= | CA2499565773 | MT-ATP6 | c.76T= (p.Phe26=) | |
| MT | m.8603T>A | CA414796884 | MT-ATP6 | c.77T>A (p.Phe26Tyr) | |
| MT | m.8603T>C | CA414796883 | MT-ATP6 | c.77T>C (p.Phe26Ser) | ClinVar dbSNP |
| MT | m.8603T>G | CA414796881 | MT-ATP6 | c.77T>G (p.Phe26Cys) | |
| MT | m.8603T= | CA2499565774 | MT-ATP6 | c.77T= (p.Phe26=) | |
| MT | m.8604T>A | CA414796887 | MT-ATP6 | c.78T>A (p.Phe26Leu) | |
| MT | m.8604T>C | CA913179457 | MT-ATP6 | c.78T>C (p.Phe26=) | dbSNP |
| MT | m.8604T>G | CA414796888 | MT-ATP6 | c.78T>G (p.Phe26Leu) | |
| MT | m.8604T= | CA2499565775 | MT-ATP6 | c.78T= (p.Phe26=) | |
| MT | m.8605C>A | CA414796890 | MT-ATP6 | c.79C>A (p.Pro27Thr) | |
| MT | m.8605C= | CA2499565776 | MT-ATP6 | c.79C= (p.Pro27=) | |
| MT | m.8605C>G | CA414796892 | MT-ATP6 | c.79C>G (p.Pro27Ala) | |
| MT | m.8605C>T | CA414796894 | MT-ATP6 | c.79C>T (p.Pro27Ser) | ClinVar dbSNP |
| MT | m.8609dup | CA2573105017 | MT-ATP6 | c.83dup (p.Leu29SerfsTer?) | |
| MT | m.8609del | CA2740098146 | MT-ATP6 | c.83del (p.Pro28LeufsTer3) | |
| MT | m.8606C>A | CA414796896 | MT-ATP6 | c.80C>A (p.Pro27His) | |
| MT | m.8606C= | CA2573329927 | MT-ATP6 | c.80C= (p.Pro27=) | |
| MT | m.8606C>G | CA414796897 | MT-ATP6 | c.80C>G (p.Pro27Arg) | |
| MT | m.8606C>T | CA414796899 | MT-ATP6 | c.80C>T (p.Pro27Leu) | |
| MT | m.8607C>A | CA913179460 | MT-ATP6 | c.81C>A (p.Pro27=) | dbSNP |
| MT | m.8607C= | CA2499565777 | MT-ATP6 | c.81C= (p.Pro27=) | |
| MT | m.8607C>G | CA913179459 | MT-ATP6 | c.81C>G (p.Pro27=) | |
| MT | m.8607C>T | CA913179458 | MT-ATP6 | c.81C>T (p.Pro27=) | |
| MT | m.8608C>A | CA414796901 | MT-ATP6 | c.82C>A (p.Pro28Thr) | |
| MT | m.8608C= | CA2573329930 | MT-ATP6 | c.82C= (p.Pro28=) | |
| MT | m.8608C>G | CA414796903 | MT-ATP6 | c.82C>G (p.Pro28Ala) | |
| MT | m.8608C>T | CA414796905 | MT-ATP6 | c.82C>T (p.Pro28Ser) | dbSNP |
| MT | m.8609C>A | CA414796913 | MT-ATP6 | c.83C>A (p.Pro28His) | |
| MT | m.8609C= | CA2499565778 | MT-ATP6 | c.83C= (p.Pro28=) | |
| MT | m.8609C>G | CA414796909 | MT-ATP6 | c.83C>G (p.Pro28Arg) | |
| MT | m.8609C>T | CA414796911 | MT-ATP6 | c.83C>T (p.Pro28Leu) | ClinVar dbSNP |
| MT | m.8610T>A | CA913179462 | MT-ATP6 | c.84T>A (p.Pro28=) | |
| MT | m.8610T>C | CA913179464 | MT-ATP6 | c.84T>C (p.Pro28=) | dbSNP |
| MT | m.8610T>G | CA913179463 | MT-ATP6 | c.84T>G (p.Pro28=) | |
| MT | m.8610T= | CA2499565779 | MT-ATP6 | c.84T= (p.Pro28=) | |
| MT | m.8611C>A | CA414796917 | MT-ATP6 | c.85C>A (p.Leu29Ile) | |
| MT | m.8611C= | CA2573329936 | MT-ATP6 | c.85C= (p.Leu29=) | |
| MT | m.8611C>G | CA414796919 | MT-ATP6 | c.85C>G (p.Leu29Val) | |
| MT | m.8611C>T | CA913179466 | MT-ATP6 | c.85C>T (p.Leu29=) | |
| MT | m.8612T>A | CA414796922 | MT-ATP6 | c.86T>A (p.Leu29Gln) | |
| MT | m.8612T>C | CA414796925 | MT-ATP6 | c.86T>C (p.Leu29Pro) | ClinVar dbSNP |
| MT | m.8612T>G | CA414796928 | MT-ATP6 | c.86T>G (p.Leu29Arg) | |
| MT | m.8612T= | CA2499565780 | MT-ATP6 | c.86T= (p.Leu29=) | |
| MT | m.8612_8618del | CA2573105018 | MT-ATP6 | c.86_92del (p.Leu29ProfsTer12) | |
| MT | m.8613A= | CA2573329939 | MT-ATP6 | c.87A= (p.Leu29=) | |
| MT | m.8613A>C | CA913179473 | MT-ATP6 | c.87A>C (p.Leu29=) | |
| MT | m.8613A>G | CA913179469 | MT-ATP6 | c.87A>G (p.Leu29=) | |
| MT | m.8613A>T | CA913179468 | MT-ATP6 | c.87A>T (p.Leu29=) | |
| MT | m.8614T>A | CA414796931 | MT-ATP6 | c.88T>A (p.Leu30Met) | |
| MT | m.8614T>C | CA337097940 | MT-ATP6 | c.88T>C (p.Leu30=) | dbSNP |
| MT | m.8614T>G | CA414796935 | MT-ATP6 | c.88T>G (p.Leu30Val) | |
| MT | m.8614T= | CA2499565781 | MT-ATP6 | c.88T= (p.Leu30=) | |
| MT | m.8615T>A | CA414796938 | MT-ATP6 | c.89T>A (p.Leu30Ter) | |
| MT | m.8615T>C | CA414796941 | MT-ATP6 | c.89T>C (p.Leu30Ser) | ClinVar dbSNP |
| MT | m.8615T>G | CA414796944 | MT-ATP6 | c.89T>G (p.Leu30Trp) | |
| MT | m.8615T= | CA2499565782 | MT-ATP6 | c.89T= (p.Leu30=) | |
| MT | m.8616G>A | CA337097942 | MT-ATP6 | c.90G>A (p.Leu30=) | dbSNP |
| MT | m.8616G>C | CA414796951 | MT-ATP6 | c.90G>C (p.Leu30Phe) | |
| MT | m.8616G= | CA2499565783 | MT-ATP6 | c.90G= (p.Leu30=) | |
| MT | m.8616G>T | CA10581379 | MT-ATP6 | c.90G>T (p.Leu30Phe) | ClinVar dbSNP |
| MT | m.8616_8617insT | CA337097947 | MT-ATP6 | c.90_91insT (p.Ile31TyrfsTer?) | dbSNP |
| MT | m.8617A= | CA2499565784 | MT-ATP6 | c.91A= (p.Ile31=) | |
| MT | m.8617A>C | CA414796955 | MT-ATP6 | c.91A>C (p.Ile31Leu) | |
| MT | m.8617A>G | CA414796958 | MT-ATP6 | c.91A>G (p.Ile31Val) | ClinVar dbSNP |
| MT | m.8617A>T | CA414796961 | MT-ATP6 | c.91A>T (p.Ile31Phe) | |
| MT | m.8617_8618insC | CA2573105019 | MT-ATP6 | c.91_92insC (p.Ile31ThrfsTer?) | |
| MT | m.8618T>A | CA414796966 | MT-ATP6 | c.92T>A (p.Ile31Asn) | |
| MT | m.8618T>C | CA337097949 | MT-ATP6 | c.92T>C (p.Ile31Thr) | ClinVar dbSNP |
| MT | m.8618T>G | CA414796971 | MT-ATP6 | c.92T>G (p.Ile31Ser) | |
| MT | m.8618T= | CA2499565786 | MT-ATP6 | c.92T= (p.Ile31=) | |
| MT | m.8618dup | CA254849 | MT-ATP6 | c.92dup (p.Thr33HisfsTer?) | ClinVar dbSNP |
| MT | m.8619C>A | CA913179477 | MT-ATP6 | c.93C>A (p.Ile31=) | dbSNP |
| MT | m.8619C= | CA2499565790 | MT-ATP6 | c.93C= (p.Ile31=) | |
| MT | m.8619C>G | CA414796974 | MT-ATP6 | c.93C>G (p.Ile31Met) | |
| MT | m.8619C>T | CA10581314 | MT-ATP6 | c.93C>T (p.Ile31=) | ClinVar dbSNP |
| MT | m.8622_8623insCCCCCCCCCC | CA2573105020 | MT-ATP6 | c.96_97insCCCCCCCCCC (p.Thr33ProfsTer?) | |
| MT | m.8622dup | CA2740098147 | MT-ATP6 | c.96dup (p.Thr33HisfsTer?) | |
| MT | m.8620C>A | CA414796979 | MT-ATP6 | c.94C>A (p.Pro32Thr) | |
| MT | m.8620C= | CA2573329951 | MT-ATP6 | c.94C= (p.Pro32=) | |
| MT | m.8620C>G | CA414796982 | MT-ATP6 | c.94C>G (p.Pro32Ala) | |
| MT | m.8620C>T | CA414796984 | MT-ATP6 | c.94C>T (p.Pro32Ser) | |
| MT | m.8621C>A | CA414796993 | MT-ATP6 | c.95C>A (p.Pro32His) | |
| MT | m.8621C= | CA2573329952 | MT-ATP6 | c.95C= (p.Pro32=) | |
| MT | m.8621C>G | CA414796991 | MT-ATP6 | c.95C>G (p.Pro32Arg) | |
| MT | m.8621C>T | CA414796988 | MT-ATP6 | c.95C>T (p.Pro32Leu) | |
| MT | m.8622C>A | CA913179481 | MT-ATP6 | c.96C>A (p.Pro32=) | |
| MT | m.8622C= | CA2499565792 | MT-ATP6 | c.96C= (p.Pro32=) | |
| MT | m.8622C>G | CA913179482 | MT-ATP6 | c.96C>G (p.Pro32=) | dbSNP |
| MT | m.8622C>T | CA913179483 | MT-ATP6 | c.96C>T (p.Pro32=) | dbSNP |
| MT | m.8623A= | CA2499565795 | MT-ATP6 | c.97A= (p.Thr33=) | |
| MT | m.8623A>C | CA414796997 | MT-ATP6 | c.97A>C (p.Thr33Pro) | ClinVar dbSNP |
| MT | m.8623A>G | CA414797000 | MT-ATP6 | c.97A>G (p.Thr33Ala) | ClinVar dbSNP |
| MT | m.8623A>T | CA414797002 | MT-ATP6 | c.97A>T (p.Thr33Ser) | ClinVar dbSNP |
| MT | m.8624C>A | CA414797006 | MT-ATP6 | c.98C>A (p.Thr33Asn) | |
| MT | m.8624C= | CA2499565798 | MT-ATP6 | c.98C= (p.Thr33=) | |
| MT | m.8624C>G | CA414797008 | MT-ATP6 | c.98C>G (p.Thr33Ser) | |
| MT | m.8624C>T | CA414797011 | MT-ATP6 | c.98C>T (p.Thr33Ile) | ClinVar dbSNP |
| MT | m.8625C>A | CA913179489 | MT-ATP6 | c.99C>A (p.Thr33=) | |
| MT | m.8625C= | CA2573329960 | MT-ATP6 | c.99C= (p.Thr33=) | |
| MT | m.8625C>G | CA913179485 | MT-ATP6 | c.99C>G (p.Thr33=) | |
| MT | m.8625C>T | CA913179484 | MT-ATP6 | c.99C>T (p.Thr33=) | |
| MT | m.8626T>A | CA414797015 | MT-ATP6 | c.100T>A (p.Ser34Thr) | |
| MT | m.8626T>C | CA414797018 | MT-ATP6 | c.100T>C (p.Ser34Pro) | ClinVar dbSNP |
| MT | m.8626T>G | CA414797019 | MT-ATP6 | c.100T>G (p.Ser34Ala) | |
| MT | m.8626T= | CA2499565800 | MT-ATP6 | c.100T= (p.Ser34=) | |
| MT | m.8627C>A | CA414797025 | MT-ATP6 | c.101C>A (p.Ser34Tyr) | |
| MT | m.8627C= | CA2573329963 | MT-ATP6 | c.101C= (p.Ser34=) | |
| MT | m.8627C>G | CA414797027 | MT-ATP6 | c.101C>G (p.Ser34Cys) | |
| MT | m.8627C>T | CA414797029 | MT-ATP6 | c.101C>T (p.Ser34Phe) | |
| MT | m.8628C>A | CA913179493 | MT-ATP6 | c.102C>A (p.Ser34=) | |
| MT | m.8628C= | CA2499565802 | MT-ATP6 | c.102C= (p.Ser34=) | |
| MT | m.8628C>G | CA913179492 | MT-ATP6 | c.102C>G (p.Ser34=) | |
| MT | m.8628C>T | CA913179491 | MT-ATP6 | c.102C>T (p.Ser34=) | dbSNP |
| MT | m.8629A= | CA2573329965 | MT-ATP6 | c.103A= (p.Lys35=) | |
| MT | m.8629A>C | CA414797039 | MT-ATP6 | c.103A>C (p.Lys35Gln) | |
| MT | m.8629A>G | CA414797035 | MT-ATP6 | c.103A>G (p.Lys35Glu) | |
| MT | m.8629A>T | CA414797034 | MT-ATP6 | c.103A>T (p.Lys35Ter) | |
| MT | m.8630A= | CA2573329966 | MT-ATP6 | c.104A= (p.Lys35=) | |
| MT | m.8630A>C | CA414797043 | MT-ATP6 | c.104A>C (p.Lys35Thr) | |
| MT | m.8630A>G | CA414797046 | MT-ATP6 | c.104A>G (p.Lys35Arg) | |
| MT | m.8630A>T | CA414797049 | MT-ATP6 | c.104A>T (p.Lys35Ile) | |
| MT | m.8631A= | CA2499565804 | MT-ATP6 | c.105A= (p.Lys35=) | |
| MT | m.8631A>C | CA414797051 | MT-ATP6 | c.105A>C (p.Lys35Asn) | |
| MT | m.8631A>G | CA913179499 | MT-ATP6 | c.105A>G (p.Lys35=) | dbSNP |
| MT | m.8631A>T | CA414797055 | MT-ATP6 | c.105A>T (p.Lys35Asn) | |
| MT | m.8632T>A | CA414797058 | MT-ATP6 | c.106T>A (p.Tyr36Asn) | |
| MT | m.8632T>C | CA414797060 | MT-ATP6 | c.106T>C (p.Tyr36His) | ClinVar dbSNP |
| MT | m.8632T>G | CA414797063 | MT-ATP6 | c.106T>G (p.Tyr36Asp) | |
| MT | m.8632T= | CA2499565806 | MT-ATP6 | c.106T= (p.Tyr36=) |