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.8587_12967del | CA645373337 | ClinVar | ||
| MT | m.8815_13722del | CA645373338 | ClinVar | ||
| MT | m.8839_14895del | CA645373339 | ClinVar | ||
| MT | m.9062_16052del | CA2580618296 | |||
| MT | m.9347A= | CA2499566261 | MT-CO3 | c.141A= (p.Leu47=) | |
| MT | m.9347A>C | CA337098338 | MT-CO3 | c.141A>C (p.Leu47=) | |
| MT | m.9347A>G | CA337098340 | MT-CO3 | c.141A>G (p.Leu47=) | dbSNP |
| MT | m.9347A>T | CA337098342 | MT-CO3 | c.141A>T (p.Leu47=) | |
| MT | m.9348C>A | CA414802740 | MT-CO3 | c.142C>A (p.Leu48Ile) | |
| MT | m.9348C= | CA2499566262 | MT-CO3 | c.142C= (p.Leu48=) | |
| MT | m.9348C>G | CA414802741 | MT-CO3 | c.142C>G (p.Leu48Val) | |
| MT | m.9348C>T | CA913181556 | MT-CO3 | c.142C>T (p.Leu48=) | dbSNP |
| MT | m.9349T>A | CA414802742 | MT-CO3 | c.143T>A (p.Leu48Gln) | |
| MT | m.9349T>C | CA414802743 | MT-CO3 | c.143T>C (p.Leu48Pro) | |
| MT | m.9349T>G | CA414802744 | MT-CO3 | c.143T>G (p.Leu48Arg) | |
| MT | m.9349T= | CA2573322472 | MT-CO3 | c.143T= (p.Leu48=) | |
| MT | m.9350A= | CA2499566263 | MT-CO3 | c.144A= (p.Leu48=) | |
| MT | m.9350A>C | CA913181559 | MT-CO3 | c.144A>C (p.Leu48=) | dbSNP |
| MT | m.9350A>G | CA913181560 | MT-CO3 | c.144A>G (p.Leu48=) | dbSNP |
| MT | m.9350A>T | CA913181561 | MT-CO3 | c.144A>T (p.Leu48=) | |
| MT | m.9351A= | CA2499566264 | MT-CO3 | c.145A= (p.Thr49=) | |
| MT | m.9351A>C | CA414802745 | MT-CO3 | c.145A>C (p.Thr49Pro) | |
| MT | m.9351A>G | CA414802746 | MT-CO3 | c.145A>G (p.Thr49Ala) | dbSNP |
| MT | m.9351A>T | CA414802747 | MT-CO3 | c.145A>T (p.Thr49Ser) | |
| MT | m.9352C>A | CA414802750 | MT-CO3 | c.146C>A (p.Thr49Asn) | |
| MT | m.9352C= | CA2573322487 | MT-CO3 | c.146C= (p.Thr49=) | |
| MT | m.9352C>G | CA414802749 | MT-CO3 | c.146C>G (p.Thr49Ser) | |
| MT | m.9352C>T | CA414802748 | MT-CO3 | c.146C>T (p.Thr49Ile) | |
| MT | m.9353C>A | CA913181562 | MT-CO3 | c.147C>A (p.Thr49=) | |
| MT | m.9353C= | CA2499566265 | MT-CO3 | c.147C= (p.Thr49=) | |
| MT | m.9353C>G | CA913181567 | MT-CO3 | c.147C>G (p.Thr49=) | |
| MT | m.9353C>T | CA10581247 | MT-CO3 | c.147C>T (p.Thr49=) | ClinVar dbSNP |
| MT | m.9354A= | CA2573322500 | MT-CO3 | c.148A= (p.Asn50=) | |
| MT | m.9354A>C | CA414802751 | MT-CO3 | c.148A>C (p.Asn50His) | |
| MT | m.9354A>G | CA414802752 | MT-CO3 | c.148A>G (p.Asn50Asp) | |
| MT | m.9354A>T | CA414802753 | MT-CO3 | c.148A>T (p.Asn50Tyr) | |
| MT | m.9355A= | CA2499566266 | MT-CO3 | c.149A= (p.Asn50=) | |
| MT | m.9355A>C | CA414802754 | MT-CO3 | c.149A>C (p.Asn50Thr) | |
| MT | m.9355A>G | CA414802755 | MT-CO3 | c.149A>G (p.Asn50Ser) | ClinVar dbSNP |
| MT | m.9355A>T | CA414802756 | MT-CO3 | c.149A>T (p.Asn50Ile) | ClinVar dbSNP |
| MT | m.9356C>A | CA414802757 | MT-CO3 | c.150C>A (p.Asn50Lys) | |
| MT | m.9356C= | CA2499566267 | MT-CO3 | c.150C= (p.Asn50=) | |
| MT | m.9356C>G | CA414802758 | MT-CO3 | c.150C>G (p.Asn50Lys) | |
| MT | m.9356C>T | CA913181574 | MT-CO3 | c.150C>T (p.Asn50=) | dbSNP |
| MT | m.9357A= | CA2499566268 | MT-CO3 | c.151A= (p.Thr51=) | |
| MT | m.9357A>C | CA414802759 | MT-CO3 | c.151A>C (p.Thr51Pro) | |
| MT | m.9357A>G | CA414802760 | MT-CO3 | c.151A>G (p.Thr51Ala) | ClinVar dbSNP |
| MT | m.9357A>T | CA414802761 | MT-CO3 | c.151A>T (p.Thr51Ser) | |
| MT | m.9358C>A | CA414802763 | MT-CO3 | c.152C>A (p.Thr51Lys) | |
| MT | m.9358C= | CA2573322528 | MT-CO3 | c.152C= (p.Thr51=) | |
| MT | m.9358C>G | CA414802764 | MT-CO3 | c.152C>G (p.Thr51Arg) | |
| MT | m.9358C>T | CA414802762 | MT-CO3 | c.152C>T (p.Thr51Ile) | |
| MT | m.9359A= | CA2573322535 | MT-CO3 | c.153A= (p.Thr51=) | |
| MT | m.9359A>C | CA913181576 | MT-CO3 | c.153A>C (p.Thr51=) | |
| MT | m.9359A>G | CA913181578 | MT-CO3 | c.153A>G (p.Thr51=) | |
| MT | m.9359A>T | CA913181577 | MT-CO3 | c.153A>T (p.Thr51=) | |
| MT | m.9360C>A | CA414802765 | MT-CO3 | c.154C>A (p.Leu52Ile) | |
| MT | m.9360C= | CA2573322546 | MT-CO3 | c.154C= (p.Leu52=) | |
| MT | m.9360C>G | CA414802766 | MT-CO3 | c.154C>G (p.Leu52Val) | |
| MT | m.9360C>T | CA913181579 | MT-CO3 | c.154C>T (p.Leu52=) | |
| MT | m.9361T>A | CA414802767 | MT-CO3 | c.155T>A (p.Leu52Gln) | |
| MT | m.9361T>C | CA414802769 | MT-CO3 | c.155T>C (p.Leu52Pro) | |
| MT | m.9361T>G | CA414802768 | MT-CO3 | c.155T>G (p.Leu52Arg) | |
| MT | m.9361T= | CA2573322550 | MT-CO3 | c.155T= (p.Leu52=) | |
| MT | m.9362A= | CA2499566269 | MT-CO3 | c.156A= (p.Leu52=) | |
| MT | m.9362A>C | CA913181584 | MT-CO3 | c.156A>C (p.Leu52=) | |
| MT | m.9362A>G | CA337098351 | MT-CO3 | c.156A>G (p.Leu52=) | dbSNP |
| MT | m.9362A>T | CA913181583 | MT-CO3 | c.156A>T (p.Leu52=) | |
| MT | m.9363A= | CA2573322553 | MT-CO3 | c.157A= (p.Thr53=) | |
| MT | m.9363A>C | CA414802770 | MT-CO3 | c.157A>C (p.Thr53Pro) | |
| MT | m.9363A>G | CA414802771 | MT-CO3 | c.157A>G (p.Thr53Ala) | |
| MT | m.9363A>T | CA414802772 | MT-CO3 | c.157A>T (p.Thr53Ser) | |
| MT | m.9364C>A | CA414802773 | MT-CO3 | c.158C>A (p.Thr53Asn) | |
| MT | m.9364C= | CA2573322557 | MT-CO3 | c.158C= (p.Thr53=) | |
| MT | m.9364C>G | CA414802774 | MT-CO3 | c.158C>G (p.Thr53Ser) | |
| MT | m.9364C>T | CA414802775 | MT-CO3 | c.158C>T (p.Thr53Ile) | |
| MT | m.9365C>A | CA913181587 | MT-CO3 | c.159C>A (p.Thr53=) | |
| MT | m.9365C= | CA2499566270 | MT-CO3 | c.159C= (p.Thr53=) | |
| MT | m.9365C>G | CA913181588 | MT-CO3 | c.159C>G (p.Thr53=) | |
| MT | m.9365C>T | CA913181586 | MT-CO3 | c.159C>T (p.Thr53=) | dbSNP |
| MT | m.9366A= | CA2499566271 | MT-CO3 | c.160A= (p.Ile54=) | |
| MT | m.9366A>C | CA414802776 | MT-CO3 | c.160A>C (p.Ile54Leu) | |
| MT | m.9366A>G | CA414802777 | MT-CO3 | c.160A>G (p.Ile54Val) | |
| MT | m.9366A>T | CA414802778 | MT-CO3 | c.160A>T (p.Ile54Leu) | dbSNP |
| MT | m.9367T>A | CA414802781 | MT-CO3 | c.161T>A (p.Ile54Lys) | |
| MT | m.9367T>C | CA414802779 | MT-CO3 | c.161T>C (p.Ile54Thr) | ClinVar dbSNP |
| MT | m.9367T>G | CA414802780 | MT-CO3 | c.161T>G (p.Ile54Arg) | |
| MT | m.9367T= | CA2499566272 | MT-CO3 | c.161T= (p.Ile54=) | |
| MT | m.9368A= | CA2499566273 | MT-CO3 | c.162A= (p.Ile54=) | |
| MT | m.9368A>C | CA337098354 | MT-CO3 | c.162A>C (p.Ile54=) | |
| MT | m.9368A>G | CA10581349 | MT-CO3 | c.162A>G (p.Ile54Met) | ClinVar dbSNP |
| MT | m.9368A>T | CA337098359 | MT-CO3 | c.162A>T (p.Ile54=) | |
| MT | m.9369T>A | CA414802782 | MT-CO3 | c.163T>A (p.Tyr55Asn) | |
| MT | m.9369T>C | CA414802783 | MT-CO3 | c.163T>C (p.Tyr55His) | dbSNP |
| MT | m.9369T>G | CA414802784 | MT-CO3 | c.163T>G (p.Tyr55Asp) | |
| MT | m.9369T= | CA2573322578 | MT-CO3 | c.163T= (p.Tyr55=) | |
| MT | m.9370A= | CA2499566274 | MT-CO3 | c.164A= (p.Tyr55=) | |
| MT | m.9370A>C | CA414802785 | MT-CO3 | c.164A>C (p.Tyr55Ser) | |
| MT | m.9370A>G | CA414802786 | MT-CO3 | c.164A>G (p.Tyr55Cys) | dbSNP |
| MT | m.9370A>T | CA414802787 | MT-CO3 | c.164A>T (p.Tyr55Phe) | |
| MT | m.9371C>A | CA414802788 | MT-CO3 | c.165C>A (p.Tyr55Ter) | |
| MT | m.9371C= | CA2499566275 | MT-CO3 | c.165C= (p.Tyr55=) | |
| MT | m.9371C>G | CA414802789 | MT-CO3 | c.165C>G (p.Tyr55Ter) | |
| MT | m.9371C>T | CA337098365 | MT-CO3 | c.165C>T (p.Tyr55=) | dbSNP |
| MT | m.9372C>A | CA414802790 | MT-CO3 | c.166C>A (p.Gln56Lys) | |
| MT | m.9372C= | CA2573322625 | MT-CO3 | c.166C= (p.Gln56=) | |
| MT | m.9372C>G | CA414802791 | MT-CO3 | c.166C>G (p.Gln56Glu) | |
| MT | m.9372C>T | CA414802792 | MT-CO3 | c.166C>T (p.Gln56Ter) | |
| MT | m.9373A= | CA2573322629 | MT-CO3 | c.167A= (p.Gln56=) | |
| MT | m.9373A>C | CA414802793 | MT-CO3 | c.167A>C (p.Gln56Pro) | |
| MT | m.9373A>G | CA414802794 | MT-CO3 | c.167A>G (p.Gln56Arg) | |
| MT | m.9373A>T | CA414802795 | MT-CO3 | c.167A>T (p.Gln56Leu) | |
| MT | m.9374A= | CA2499566276 | MT-CO3 | c.168A= (p.Gln56=) | |
| MT | m.9374A>C | CA337098368 | MT-CO3 | c.168A>C (p.Gln56His) | |
| MT | m.9374A>G | CA913181593 | MT-CO3 | c.168A>G (p.Gln56=) | dbSNP |
| MT | m.9374A>T | CA337098371 | MT-CO3 | c.168A>T (p.Gln56His) | |
| MT | m.9375T>A | CA414802796 | MT-CO3 | c.169T>A (p.Ter57Arg) | |
| MT | m.9375T>C | CA414802797 | MT-CO3 | c.169T>C (p.Ter57Arg) | |
| MT | m.9375T>G | CA414802798 | MT-CO3 | c.169T>G (p.Ter57Gly) | |
| MT | m.9375T= | CA414802799 | MT-CO3 | c.169T= (p.Ter57=) | |
| MT | m.9376G>A | CA414802803 | MT-CO3 | c.170G>A (p.Ter57=) | |
| MT | m.9376G>C | CA414802800 | MT-CO3 | c.170G>C (p.Ter57Ser) | |
| MT | m.9376G= | CA414802802 | MT-CO3 | c.170G= (p.Ter57=) | |
| MT | m.9376G>T | CA414802801 | MT-CO3 | c.170G>T (p.Ter57Leu) | |
| MT | m.9377A= | CA414802804 | MT-CO3 | c.171A= (p.Ter57=) | |
| MT | m.9377A>C | CA414802805 | MT-CO3 | c.171A>C (p.Ter57Cys) | |
| MT | m.9377A>G | CA337098374 | MT-CO3 | c.171A>G (p.Ter57Trp) | dbSNP COSMIC COSMIC |
| MT | m.9377A>T | CA414802806 | MT-CO3 | c.171A>T (p.Ter57Cys) | |
| MT | m.9378T>A | CA414802807 | MT-CO3 | c.172T>A (p.Trp58Arg) | |
| MT | m.9378T>C | CA414802808 | MT-CO3 | c.172T>C (p.Trp58Arg) | |
| MT | m.9378T>G | CA414802809 | MT-CO3 | c.172T>G (p.Trp58Gly) | |
| MT | m.9378T= | CA2573322649 | MT-CO3 | c.172T= (p.Trp58=) | |
| MT | m.9379G>A | CA120603 | MT-CO3 | c.173G>A (p.Trp58Ter) | ClinVar dbSNP |
| MT | m.9379G>C | CA414802810 | MT-CO3 | c.173G>C (p.Trp58Ser) | |
| MT | m.9379G= | CA2499566277 | MT-CO3 | c.173G= (p.Trp58=) | |
| MT | m.9379G>T | CA414802811 | MT-CO3 | c.173G>T (p.Trp58Leu) | |
| MT | m.9380G>A | CA337098378 | MT-CO3 | c.174G>A (p.Trp58Ter) | dbSNP |
| MT | m.9380G>C | CA414802813 | MT-CO3 | c.174G>C (p.Trp58Cys) | dbSNP |
| MT | m.9380G= | CA2499566278 | MT-CO3 | c.174G= (p.Trp58=) | |
| MT | m.9380G>T | CA414802812 | MT-CO3 | c.174G>T (p.Trp58Cys) | |
| MT | m.9381C>A | CA414802814 | MT-CO3 | c.175C>A (p.Arg59Ser) | |
| MT | m.9381C= | CA2573322667 | MT-CO3 | c.175C= (p.Arg59=) | |
| MT | m.9381C>G | CA414802816 | MT-CO3 | c.175C>G (p.Arg59Gly) | |
| MT | m.9381C>T | CA414802815 | MT-CO3 | c.175C>T (p.Arg59Cys) | |
| MT | m.9382G>A | CA414802817 | MT-CO3 | c.176G>A (p.Arg59His) | |
| MT | m.9382G>C | CA414802818 | MT-CO3 | c.176G>C (p.Arg59Pro) | |
| MT | m.9382G= | CA2573322671 | MT-CO3 | c.176G= (p.Arg59=) | |
| MT | m.9382G>T | CA414802819 | MT-CO3 | c.176G>T (p.Arg59Leu) | |
| MT | m.9383C>A | CA913181600 | MT-CO3 | c.177C>A (p.Arg59=) | |
| MT | m.9383C= | CA2499566279 | MT-CO3 | c.177C= (p.Arg59=) | |
| MT | m.9383C>G | CA913181601 | MT-CO3 | c.177C>G (p.Arg59=) | |
| MT | m.9383C>T | CA913181599 | MT-CO3 | c.177C>T (p.Arg59=) | dbSNP |
| MT | m.9384G>A | CA414802820 | MT-CO3 | c.178G>A (p.Asp60Asn) | COSMIC COSMIC |
| MT | m.9384G>C | CA414802821 | MT-CO3 | c.178G>C (p.Asp60His) | |
| MT | m.9384G= | CA2573322685 | MT-CO3 | c.178G= (p.Asp60=) | |
| MT | m.9384G>T | CA414802822 | MT-CO3 | c.178G>T (p.Asp60Tyr) | |
| MT | m.9385A= | CA2573322687 | MT-CO3 | c.179A= (p.Asp60=) | |
| MT | m.9385A>C | CA414802823 | MT-CO3 | c.179A>C (p.Asp60Ala) | |
| MT | m.9385A>G | CA414802824 | MT-CO3 | c.179A>G (p.Asp60Gly) | |
| MT | m.9385A>T | CA414802825 | MT-CO3 | c.179A>T (p.Asp60Val) | |
| MT | m.9386T>A | CA414802826 | MT-CO3 | c.180T>A (p.Asp60Glu) | |
| MT | m.9386T>C | CA913181605 | MT-CO3 | c.180T>C (p.Asp60=) | dbSNP |
| MT | m.9386T>G | CA414802827 | MT-CO3 | c.180T>G (p.Asp60Glu) | |
| MT | m.9386T= | CA2499566280 | MT-CO3 | c.180T= (p.Asp60=) | |
| MT | m.9387G>A | CA414802830 | MT-CO3 | c.181G>A (p.Val61Ile) | ClinVar dbSNP |
| MT | m.9387G>C | CA414802828 | MT-CO3 | c.181G>C (p.Val61Leu) | |
| MT | m.9387G= | CA2499566281 | MT-CO3 | c.181G= (p.Val61=) | |
| MT | m.9387G>T | CA414802829 | MT-CO3 | c.181G>T (p.Val61Leu) | |
| MT | m.9388T>A | CA414802831 | MT-CO3 | c.182T>A (p.Val61Glu) | |
| MT | m.9388T>C | CA414802832 | MT-CO3 | c.182T>C (p.Val61Ala) | dbSNP |
| MT | m.9388T>G | CA414802833 | MT-CO3 | c.182T>G (p.Val61Gly) | |
| MT | m.9388T= | CA2499566282 | MT-CO3 | c.182T= (p.Val61=) | |
| MT | m.9389A= | CA2499566283 | MT-CO3 | c.183A= (p.Val61=) | |
| MT | m.9389A>C | CA913181610 | MT-CO3 | c.183A>C (p.Val61=) | |
| MT | m.9389A>G | CA337098383 | MT-CO3 | c.183A>G (p.Val61=) | dbSNP |
| MT | m.9389A>T | CA913181609 | MT-CO3 | c.183A>T (p.Val61=) | |
| MT | m.9390A= | CA2499566284 | MT-CO3 | c.184A= (p.Thr62=) | |
| MT | m.9390A>C | CA414802834 | MT-CO3 | c.184A>C (p.Thr62Pro) | |
| MT | m.9390A>G | CA414802835 | MT-CO3 | c.184A>G (p.Thr62Ala) | ClinVar dbSNP |
| MT | m.9390A>T | CA414802836 | MT-CO3 | c.184A>T (p.Thr62Ser) | |
| MT | m.9391C>A | CA414802837 | MT-CO3 | c.185C>A (p.Thr62Lys) | |
| MT | m.9391C= | CA2499566285 | MT-CO3 | c.185C= (p.Thr62=) | |
| MT | m.9391C>G | CA414802838 | MT-CO3 | c.185C>G (p.Thr62Arg) | |
| MT | m.9391C>T | CA414802839 | MT-CO3 | c.185C>T (p.Thr62Ile) | ClinVar dbSNP |
| MT | m.9392A= | CA2573322734 | MT-CO3 | c.186A= (p.Thr62=) | |
| MT | m.9392A>C | CA913181613 | MT-CO3 | c.186A>C (p.Thr62=) | |
| MT | m.9392A>G | CA913181612 | MT-CO3 | c.186A>G (p.Thr62=) | |
| MT | m.9392A>T | CA913181611 | MT-CO3 | c.186A>T (p.Thr62=) | |
| MT | m.9393C>A | CA913181614 | MT-CO3 | c.187C>A (p.Arg63=) | |
| MT | m.9393C= | CA2573322738 | MT-CO3 | c.187C= (p.Arg63=) | |
| MT | m.9393C>G | CA414802840 | MT-CO3 | c.187C>G (p.Arg63Gly) | |
| MT | m.9393C>T | CA414802841 | MT-CO3 | c.187C>T (p.Arg63Ter) | |
| MT | m.9394G>A | CA414802842 | MT-CO3 | c.188G>A (p.Arg63Gln) | |
| MT | m.9394G>C | CA414802843 | MT-CO3 | c.188G>C (p.Arg63Pro) | |
| MT | m.9394G= | CA2573322744 | MT-CO3 | c.188G= (p.Arg63=) | |
| MT | m.9394G>T | CA414802844 | MT-CO3 | c.188G>T (p.Arg63Leu) | |
| MT | m.9395A= | CA2573322748 | MT-CO3 | c.189A= (p.Arg63=) | |
| MT | m.9395A>C | CA913181622 | MT-CO3 | c.189A>C (p.Arg63=) | |
| MT | m.9395A>G | CA913181617 | MT-CO3 | c.189A>G (p.Arg63=) | |
| MT | m.9395A>T | CA913181615 | MT-CO3 | c.189A>T (p.Arg63=) | |
| MT | m.9396G>A | CA414802845 | MT-CO3 | c.190G>A (p.Glu64Lys) | |
| MT | m.9396G>C | CA414802846 | MT-CO3 | c.190G>C (p.Glu64Gln) | |
| MT | m.9396G= | CA2573322749 | MT-CO3 | c.190G= (p.Glu64=) | |
| MT | m.9396G>T | CA414802847 | MT-CO3 | c.190G>T (p.Glu64Ter) | |
| MT | m.9397A= | CA2573322751 | MT-CO3 | c.191A= (p.Glu64=) | |
| MT | m.9397A>C | CA414802848 | MT-CO3 | c.191A>C (p.Glu64Ala) | |
| MT | m.9397A>G | CA414802849 | MT-CO3 | c.191A>G (p.Glu64Gly) | |
| MT | m.9397A>T | CA414802850 | MT-CO3 | c.191A>T (p.Glu64Val) | |
| MT | m.9398A= | CA2499566286 | MT-CO3 | c.192A= (p.Glu64=) | |
| MT | m.9398A>C | CA414802851 | MT-CO3 | c.192A>C (p.Glu64Asp) | |
| MT | m.9398A>G | CA913181627 | MT-CO3 | c.192A>G (p.Glu64=) | dbSNP |
| MT | m.9398A>T | CA414802852 | MT-CO3 | c.192A>T (p.Glu64Asp) | |
| MT | m.9399A= | CA2573322755 | MT-CO3 | c.193A= (p.Ser65=) | |
| MT | m.9399A>C | CA414802855 | MT-CO3 | c.193A>C (p.Ser65Arg) | |
| MT | m.9399A>G | CA414802854 | MT-CO3 | c.193A>G (p.Ser65Gly) | |
| MT | m.9399A>T | CA414802853 | MT-CO3 | c.193A>T (p.Ser65Cys) | |
| MT | m.9400G>A | CA414802856 | MT-CO3 | c.194G>A (p.Ser65Asn) | COSMIC COSMIC |
| MT | m.9400G>C | CA414802857 | MT-CO3 | c.194G>C (p.Ser65Thr) | |
| MT | m.9400G= | CA2573322759 | MT-CO3 | c.194G= (p.Ser65=) | |
| MT | m.9400G>T | CA414802858 | MT-CO3 | c.194G>T (p.Ser65Ile) | |
| MT | m.9401C>A | CA414802859 | MT-CO3 | c.195C>A (p.Ser65Arg) | |
| MT | m.9401C= | CA2499566287 | MT-CO3 | c.195C= (p.Ser65=) | |
| MT | m.9401C>G | CA414802860 | MT-CO3 | c.195C>G (p.Ser65Arg) | |
| MT | m.9401C>T | CA913181629 | MT-CO3 | c.195C>T (p.Ser65=) | dbSNP |
| MT | m.9402A= | CA2573322765 | MT-CO3 | c.196A= (p.Thr66=) | |
| MT | m.9402A>C | CA414802861 | MT-CO3 | c.196A>C (p.Thr66Pro) | |
| MT | m.9402A>G | CA414802862 | MT-CO3 | c.196A>G (p.Thr66Ala) | |
| MT | m.9402A>T | CA414802863 | MT-CO3 | c.196A>T (p.Thr66Ser) | |
| MT | m.9403C>A | CA414802864 | MT-CO3 | c.197C>A (p.Thr66Lys) | |
| MT | m.9403C= | CA2573322768 | MT-CO3 | c.197C= (p.Thr66=) | |
| MT | m.9403C>G | CA414802865 | MT-CO3 | c.197C>G (p.Thr66Arg) | |
| MT | m.9403C>T | CA414802866 | MT-CO3 | c.197C>T (p.Thr66Ile) | |
| MT | m.9404A= | CA2573322772 | MT-CO3 | c.198A= (p.Thr66=) | |
| MT | m.9404A>C | CA913181634 | MT-CO3 | c.198A>C (p.Thr66=) | |
| MT | m.9404A>G | CA913181633 | MT-CO3 | c.198A>G (p.Thr66=) | |
| MT | m.9404A>T | CA913181632 | MT-CO3 | c.198A>T (p.Thr66=) | |
| MT | m.9405T>A | CA414802869 | MT-CO3 | c.199T>A (p.Tyr67Asn) | |
| MT | m.9405T>C | CA414802868 | MT-CO3 | c.199T>C (p.Tyr67His) | ClinVar dbSNP |
| MT | m.9405T>G | CA414802867 | MT-CO3 | c.199T>G (p.Tyr67Asp) | |
| MT | m.9405T= | CA2499566288 | MT-CO3 | c.199T= (p.Tyr67=) | |
| MT | m.9406A= | CA2573322788 | MT-CO3 | c.200A= (p.Tyr67=) | |
| MT | m.9406A>C | CA414802870 | MT-CO3 | c.200A>C (p.Tyr67Ser) | |
| MT | m.9406A>G | CA414802872 | MT-CO3 | c.200A>G (p.Tyr67Cys) | |
| MT | m.9406A>T | CA414802871 | MT-CO3 | c.200A>T (p.Tyr67Phe) | |
| MT | m.9407C>A | CA414802873 | MT-CO3 | c.201C>A (p.Tyr67Ter) | |
| MT | m.9407C= | CA2499566289 | MT-CO3 | c.201C= (p.Tyr67=) | |
| MT | m.9407C>G | CA414802874 | MT-CO3 | c.201C>G (p.Tyr67Ter) | |
| MT | m.9407C>T | CA913181637 | MT-CO3 | c.201C>T (p.Tyr67=) | dbSNP |
| MT | m.9408C>A | CA414802875 | MT-CO3 | c.202C>A (p.Gln68Lys) | |
| MT | m.9408C= | CA2573322796 | MT-CO3 | c.202C= (p.Gln68=) | |
| MT | m.9408C>G | CA414802876 | MT-CO3 | c.202C>G (p.Gln68Glu) | |
| MT | m.9408C>T | CA414802877 | MT-CO3 | c.202C>T (p.Gln68Ter) | |
| MT | m.9409A= | CA2573322808 | MT-CO3 | c.203A= (p.Gln68=) | |
| MT | m.9409A>C | CA414802878 | MT-CO3 | c.203A>C (p.Gln68Pro) | |
| MT | m.9409A>G | CA414802879 | MT-CO3 | c.203A>G (p.Gln68Arg) | |
| MT | m.9409A>T | CA414802880 | MT-CO3 | c.203A>T (p.Gln68Leu) | |
| MT | m.9410A= | CA2499566290 | MT-CO3 | c.204A= (p.Gln68=) | |
| MT | m.9410A>C | CA414802881 | MT-CO3 | c.204A>C (p.Gln68His) | |
| MT | m.9410A>G | CA913181641 | MT-CO3 | c.204A>G (p.Gln68=) | dbSNP |
| MT | m.9410A>T | CA414802882 | MT-CO3 | c.204A>T (p.Gln68His) | |
| MT | m.9411G>A | CA414802885 | MT-CO3 | c.205G>A (p.Gly69Ser) | |
| MT | m.9411G>C | CA414802884 | MT-CO3 | c.205G>C (p.Gly69Arg) | |
| MT | m.9411G= | CA2573322823 | MT-CO3 | c.205G= (p.Gly69=) | |
| MT | m.9411G>T | CA414802883 | MT-CO3 | c.205G>T (p.Gly69Cys) | |
| MT | m.9412G>A | CA414802886 | MT-CO3 | c.206G>A (p.Gly69Asp) | |
| MT | m.9412G>C | CA414802887 | MT-CO3 | c.206G>C (p.Gly69Ala) | |
| MT | m.9412G= | CA2573322827 | MT-CO3 | c.206G= (p.Gly69=) | |
| MT | m.9412G>T | CA414802888 | MT-CO3 | c.206G>T (p.Gly69Val) | |
| MT | m.9413C>A | CA913181646 | MT-CO3 | c.207C>A (p.Gly69=) | |
| MT | m.9413C= | CA2573322831 | MT-CO3 | c.207C= (p.Gly69=) | |
| MT | m.9413C>G | CA913181645 | MT-CO3 | c.207C>G (p.Gly69=) | |
| MT | m.9413C>T | CA913181644 | MT-CO3 | c.207C>T (p.Gly69=) | |
| MT | m.9414C>A | CA414802889 | MT-CO3 | c.208C>A (p.His70Asn) | |
| MT | m.9414C= | CA2573322839 | MT-CO3 | c.208C= (p.His70=) | |
| MT | m.9414C>G | CA414802890 | MT-CO3 | c.208C>G (p.His70Asp) | |
| MT | m.9414C>T | CA414802891 | MT-CO3 | c.208C>T (p.His70Tyr) | |
| MT | m.9415A= | CA2573322840 | MT-CO3 | c.209A= (p.His70=) | |
| MT | m.9415A>C | CA414802892 | MT-CO3 | c.209A>C (p.His70Pro) | |
| MT | m.9415A>G | CA414802893 | MT-CO3 | c.209A>G (p.His70Arg) | |
| MT | m.9415A>T | CA414802894 | MT-CO3 | c.209A>T (p.His70Leu) | |
| MT | m.9416C>A | CA414802895 | MT-CO3 | c.210C>A (p.His70Gln) | |
| MT | m.9416C= | CA2499566291 | MT-CO3 | c.210C= (p.His70=) | |
| MT | m.9416C>G | CA414802896 | MT-CO3 | c.210C>G (p.His70Gln) | |
| MT | m.9416C>T | CA913181647 | MT-CO3 | c.210C>T (p.His70=) | dbSNP |
| MT | m.9417C>A | CA414802899 | MT-CO3 | c.211C>A (p.His71Asn) | |
| MT | m.9417C= | CA2573322853 | MT-CO3 | c.211C= (p.His71=) | |
| MT | m.9417C>G | CA414802898 | MT-CO3 | c.211C>G (p.His71Asp) | |
| MT | m.9417C>T | CA414802897 | MT-CO3 | c.211C>T (p.His71Tyr) | |
| MT | m.9418A= | CA2573322861 | MT-CO3 | c.212A= (p.His71=) | |
| MT | m.9418A>C | CA414802902 | MT-CO3 | c.212A>C (p.His71Pro) | |
| MT | m.9418A>G | CA414802900 | MT-CO3 | c.212A>G (p.His71Arg) | |
| MT | m.9418A>T | CA414802901 | MT-CO3 | c.212A>T (p.His71Leu) | |
| MT | m.9419C>A | CA414802903 | MT-CO3 | c.213C>A (p.His71Gln) | |
| MT | m.9419C= | CA2499566292 | MT-CO3 | c.213C= (p.His71=) | |
| MT | m.9419C>G | CA414802904 | MT-CO3 | c.213C>G (p.His71Gln) | |
| MT | m.9419C>T | CA913181651 | MT-CO3 | c.213C>T (p.His71=) | dbSNP |
| MT | m.9420A= | CA2573322868 | MT-CO3 | c.214A= (p.Thr72=) | |
| MT | m.9420A>C | CA414802905 | MT-CO3 | c.214A>C (p.Thr72Pro) | |
| MT | m.9420A>G | CA414802906 | MT-CO3 | c.214A>G (p.Thr72Ala) | |
| MT | m.9420A>T | CA414802907 | MT-CO3 | c.214A>T (p.Thr72Ser) | |
| MT | m.9421C>A | CA414802908 | MT-CO3 | c.215C>A (p.Thr72Lys) | |
| MT | m.9421C= | CA2513308589 | MT-CO3 | c.215C= (p.Thr72=) | |
| MT | m.9421C>G | CA414802909 | MT-CO3 | c.215C>G (p.Thr72Arg) | |
| MT | m.9421C>T | CA414802910 | MT-CO3 | c.215C>T (p.Thr72Ile) | |
| MT | m.9422A= | CA2499566293 | MT-CO3 | c.216A= (p.Thr72=) | |
| MT | m.9422A>C | CA645611403 | MT-CO3 | c.216A>C (p.Thr72=) | dbSNP COSMIC COSMIC |
| MT | m.9422A>G | CA913181654 | MT-CO3 | c.216A>G (p.Thr72=) | |
| MT | m.9422A>T | CA913181653 | MT-CO3 | c.216A>T (p.Thr72=) | |
| MT | m.9423C>A | CA414802911 | MT-CO3 | c.217C>A (p.Pro73Thr) | |
| MT | m.9423C= | CA2573322877 | MT-CO3 | c.217C= (p.Pro73=) | |
| MT | m.9423C>G | CA414802912 | MT-CO3 | c.217C>G (p.Pro73Ala) | |
| MT | m.9423C>T | CA414802913 | MT-CO3 | c.217C>T (p.Pro73Ser) | |
| MT | m.9424C>A | CA414802914 | MT-CO3 | c.218C>A (p.Pro73Gln) | |
| MT | m.9424C= | CA2573322919 | MT-CO3 | c.218C= (p.Pro73=) | |
| MT | m.9424C>G | CA414802916 | MT-CO3 | c.218C>G (p.Pro73Arg) | |
| MT | m.9424C>T | CA414802915 | MT-CO3 | c.218C>T (p.Pro73Leu) | |
| MT | m.9425A= | CA2499566294 | MT-CO3 | c.219A= (p.Pro73=) | |
| MT | m.9425A>C | CA913181657 | MT-CO3 | c.219A>C (p.Pro73=) | dbSNP |
| MT | m.9425A>G | CA337098385 | MT-CO3 | c.219A>G (p.Pro73=) | dbSNP |
| MT | m.9425A>T | CA913181656 | MT-CO3 | c.219A>T (p.Pro73=) | |
| MT | m.9426C>A | CA414802917 | MT-CO3 | c.220C>A (p.Pro74Thr) | |
| MT | m.9426C= | CA2499566295 | MT-CO3 | c.220C= (p.Pro74=) | |
| MT | m.9426C>G | CA414802918 | MT-CO3 | c.220C>G (p.Pro74Ala) | |
| MT | m.9426C>T | CA414802919 | MT-CO3 | c.220C>T (p.Pro74Ser) | dbSNP |
| MT | m.9427C>A | CA414802920 | MT-CO3 | c.221C>A (p.Pro74His) | |
| MT | m.9427C= | CA2513250916 | MT-CO3 | c.221C= (p.Pro74=) | |
| MT | m.9427C>G | CA414802921 | MT-CO3 | c.221C>G (p.Pro74Arg) | |
| MT | m.9427C>T | CA414802922 | MT-CO3 | c.221C>T (p.Pro74Leu) | |
| MT | m.9428T>A | CA913181660 | MT-CO3 | c.222T>A (p.Pro74=) | |
| MT | m.9428T>C | CA913181659 | MT-CO3 | c.222T>C (p.Pro74=) | dbSNP |
| MT | m.9428T>G | CA913181658 | MT-CO3 | c.222T>G (p.Pro74=) | |
| MT | m.9428T= | CA2499566296 | MT-CO3 | c.222T= (p.Pro74=) | |
| MT | m.9429G>A | CA414802923 | MT-CO3 | c.223G>A (p.Val75Ile) | dbSNP |
| MT | m.9429G>C | CA414802924 | MT-CO3 | c.223G>C (p.Val75Leu) | |
| MT | m.9429G= | CA2499566297 | MT-CO3 | c.223G= (p.Val75=) | |
| MT | m.9429G>T | CA414802925 | MT-CO3 | c.223G>T (p.Val75Phe) | |
| MT | m.9429_9430insCCC | CA913190830 | MT-CO3 | c.223_224insCCC (p.Val75delinsAlaLeu) | ClinVar dbSNP |
| MT | m.9430T>A | CA414802928 | MT-CO3 | c.224T>A (p.Val75Asp) | |
| MT | m.9430T>C | CA414802927 | MT-CO3 | c.224T>C (p.Val75Ala) | |
| MT | m.9430T>G | CA414802926 | MT-CO3 | c.224T>G (p.Val75Gly) | |
| MT | m.9430T= | CA2513212253 | MT-CO3 | c.224T= (p.Val75=) | |
| MT | m.9431C>A | CA913181664 | MT-CO3 | c.225C>A (p.Val75=) | |
| MT | m.9431C= | CA2499566298 | MT-CO3 | c.225C= (p.Val75=) | |
| MT | m.9431C>G | CA913181663 | MT-CO3 | c.225C>G (p.Val75=) | |
| MT | m.9431C>T | CA913181662 | MT-CO3 | c.225C>T (p.Val75=) | dbSNP |
| MT | m.9431_9432insA | CA913190831 | MT-CO3 | c.225_226insA (p.Gln76ThrfsTer?) | ClinVar dbSNP |
| MT | m.9432C>A | CA414802929 | MT-CO3 | c.226C>A (p.Gln76Lys) | |
| MT | m.9432C= | CA2573322944 | MT-CO3 | c.226C= (p.Gln76=) | |
| MT | m.9432C>G | CA414802931 | MT-CO3 | c.226C>G (p.Gln76Glu) | |
| MT | m.9432C>T | CA414802930 | MT-CO3 | c.226C>T (p.Gln76Ter) | |
| MT | m.9433A= | CA2573322946 | MT-CO3 | c.227A= (p.Gln76=) | |
| MT | m.9433A>C | CA414802932 | MT-CO3 | c.227A>C (p.Gln76Pro) | |
| MT | m.9433A>G | CA414802933 | MT-CO3 | c.227A>G (p.Gln76Arg) | |
| MT | m.9433A>T | CA414802934 | MT-CO3 | c.227A>T (p.Gln76Leu) | |
| MT | m.9437dup | CA2740098231 | MT-CO3 | c.231dup (p.Gly78ArgfsTer?) | |
| MT | m.9437del | CA2740098232 | MT-CO3 | c.231del (p.Gly78AlafsTer6) | |
| MT | m.9434A= | CA2499566299 | MT-CO3 | c.228A= (p.Gln76=) | |
| MT | m.9434A>C | CA414802935 | MT-CO3 | c.228A>C (p.Gln76His) | |
| MT | m.9434A>G | CA913181665 | MT-CO3 | c.228A>G (p.Gln76=) | dbSNP |
| MT | m.9434A>T | CA414802936 | MT-CO3 | c.228A>T (p.Gln76His) | |
| MT | m.9435A= | CA2573322953 | MT-CO3 | c.229A= (p.Lys77=) | |
| MT | m.9435A>C | CA414802937 | MT-CO3 | c.229A>C (p.Lys77Gln) | |
| MT | m.9435A>G | CA414802938 | MT-CO3 | c.229A>G (p.Lys77Glu) | |
| MT | m.9435A>T | CA414802939 | MT-CO3 | c.229A>T (p.Lys77Ter) | |
| MT | m.9436A= | CA2573322956 | MT-CO3 | c.230A= (p.Lys77=) | |
| MT | m.9436A>C | CA414802940 | MT-CO3 | c.230A>C (p.Lys77Thr) | |
| MT | m.9436A>G | CA414802941 | MT-CO3 | c.230A>G (p.Lys77Arg) | |
| MT | m.9436A>T | CA414802942 | MT-CO3 | c.230A>T (p.Lys77Ile) | |
| MT | m.9437A= | CA2512978745 | MT-CO3 | c.231A= (p.Lys77=) | |
| MT | m.9437A>C | CA414802944 | MT-CO3 | c.231A>C (p.Lys77Asn) | |
| MT | m.9437A>G | CA913181667 | MT-CO3 | c.231A>G (p.Lys77=) | |
| MT | m.9437A>T | CA414802943 | MT-CO3 | c.231A>T (p.Lys77Asn) | |
| MT | m.9438G>A | CA254850 | MT-CO3 | c.232G>A (p.Gly78Ser) | ClinVar dbSNP |
| MT | m.9438G>C | CA414802945 | MT-CO3 | c.232G>C (p.Gly78Arg) | |
| MT | m.9438G= | CA2499566300 | MT-CO3 | c.232G= (p.Gly78=) | |
| MT | m.9438G>T | CA414802946 | MT-CO3 | c.232G>T (p.Gly78Cys) | |
| MT | m.9439G>A | CA414802947 | MT-CO3 | c.233G>A (p.Gly78Asp) | ClinVar dbSNP |
| MT | m.9439G>C | CA414802948 | MT-CO3 | c.233G>C (p.Gly78Ala) | |
| MT | m.9439G= | CA2499566301 | MT-CO3 | c.233G= (p.Gly78=) | |
| MT | m.9439G>T | CA414802949 | MT-CO3 | c.233G>T (p.Gly78Val) | |
| MT | m.9440C>A | CA913181672 | MT-CO3 | c.234C>A (p.Gly78=) | |
| MT | m.9440C= | CA2573322976 | MT-CO3 | c.234C= (p.Gly78=) | |
| MT | m.9440C>G | CA913181671 | MT-CO3 | c.234C>G (p.Gly78=) | |
| MT | m.9440C>T | CA913181670 | MT-CO3 | c.234C>T (p.Gly78=) | dbSNP |
| MT | m.9441C>A | CA414802950 | MT-CO3 | c.235C>A (p.Leu79Ile) | |
| MT | m.9441C= | CA2499566302 | MT-CO3 | c.235C= (p.Leu79=) | |
| MT | m.9441C>G | CA414802951 | MT-CO3 | c.235C>G (p.Leu79Val) | |
| MT | m.9441C>T | CA414802952 | MT-CO3 | c.235C>T (p.Leu79Phe) | |
| MT | m.9442T>A | CA414802953 | MT-CO3 | c.236T>A (p.Leu79His) | |
| MT | m.9442T>C | CA414802954 | MT-CO3 | c.236T>C (p.Leu79Pro) | |
| MT | m.9442T>G | CA414802955 | MT-CO3 | c.236T>G (p.Leu79Arg) | |
| MT | m.9442T= | CA2573322989 | MT-CO3 | c.236T= (p.Leu79=) | |
| MT | m.9443_9444insTTT | CA913190832 | MT-CO3 | c.237_238insTTT (p.Leu79_Arg80insPhe) | ClinVar dbSNP |
| MT | m.9443T>A | CA913181676 | MT-CO3 | c.237T>A (p.Leu79=) | |
| MT | m.9443T>C | CA913181675 | MT-CO3 | c.237T>C (p.Leu79=) | |
| MT | m.9443T>G | CA913181674 | MT-CO3 | c.237T>G (p.Leu79=) | |
| MT | m.9443T= | CA2573322993 | MT-CO3 | c.237T= (p.Leu79=) | |
| MT | m.9444C>A | CA913181680 | MT-CO3 | c.238C>A (p.Arg80=) | |
| MT | m.9444C= | CA2573322998 | MT-CO3 | c.238C= (p.Arg80=) | |
| MT | m.9444C>G | CA414802956 | MT-CO3 | c.238C>G (p.Arg80Gly) | |
| MT | m.9444C>T | CA414802957 | MT-CO3 | c.238C>T (p.Arg80Ter) | |
| MT | m.9445G>A | CA414802958 | MT-CO3 | c.239G>A (p.Arg80Gln) | ClinVar dbSNP |
| MT | m.9445G>C | CA414802959 | MT-CO3 | c.239G>C (p.Arg80Pro) | |
| MT | m.9445G= | CA2499566303 | MT-CO3 | c.239G= (p.Arg80=) | |
| MT | m.9445G>T | CA414802960 | MT-CO3 | c.239G>T (p.Arg80Leu) | |
| MT | m.9446A= | CA2573323010 | MT-CO3 | c.240A= (p.Arg80=) | |
| MT | m.9446A>C | CA913181684 | MT-CO3 | c.240A>C (p.Arg80=) | |
| MT | m.9446A>G | CA913181683 | MT-CO3 | c.240A>G (p.Arg80=) | dbSNP |
| MT | m.9446A>T | CA913181682 | MT-CO3 | c.240A>T (p.Arg80=) | |
| MT | m.9447T>A | CA414802961 | MT-CO3 | c.241T>A (p.Tyr81Asn) | |
| MT | m.9447T>C | CA414802962 | MT-CO3 | c.241T>C (p.Tyr81His) | dbSNP |
| MT | m.9447T>G | CA414802963 | MT-CO3 | c.241T>G (p.Tyr81Asp) | |
| MT | m.9447T= | CA2573323018 | MT-CO3 | c.241T= (p.Tyr81=) |