| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| MT | m.3972A= | CA2499563676 | MT-ND1 | c.666A= (p.Leu222=) | |
| MT | m.3972A>C | CA913176455 | MT-ND1 | c.666A>C (p.Leu222=) | |
| MT | m.3972A>G | CA337096747 | MT-ND1 | c.666A>G (p.Leu222=) | dbSNP |
| MT | m.3972A>T | CA913176459 | MT-ND1 | c.666A>T (p.Leu222=) | |
| MT | m.3973T>A | CA414773911 | MT-ND1 | c.667T>A (p.Phe223Ile) | |
| MT | m.3973T>C | CA414773912 | MT-ND1 | c.667T>C (p.Phe223Leu) | |
| MT | m.3973T>G | CA414773913 | MT-ND1 | c.667T>G (p.Phe223Val) | |
| MT | m.3973T= | CA2573328984 | MT-ND1 | c.667T= (p.Phe223=) | |
| MT | m.3974T>A | CA414773914 | MT-ND1 | c.668T>A (p.Phe223Tyr) | |
| MT | m.3974T>C | CA414773915 | MT-ND1 | c.668T>C (p.Phe223Ser) | |
| MT | m.3974T>G | CA414773916 | MT-ND1 | c.668T>G (p.Phe223Cys) | |
| MT | m.3974T= | CA2513152090 | MT-ND1 | c.668T= (p.Phe223=) | |
| MT | m.3975C>A | CA414773918 | MT-ND1 | c.669C>A (p.Phe223Leu) | |
| MT | m.3975C= | CA2499563677 | MT-ND1 | c.669C= (p.Phe223=) | |
| MT | m.3975C>G | CA414773917 | MT-ND1 | c.669C>G (p.Phe223Leu) | |
| MT | m.3975C>T | CA913176471 | MT-ND1 | c.669C>T (p.Phe223=) | dbSNP |
| MT | m.3976T>A | CA414773919 | MT-ND1 | c.670T>A (p.Phe224Ile) | |
| MT | m.3976T>C | CA414773920 | MT-ND1 | c.670T>C (p.Phe224Leu) | |
| MT | m.3976T>G | CA414773921 | MT-ND1 | c.670T>G (p.Phe224Val) | |
| MT | m.3976T= | CA2573328987 | MT-ND1 | c.670T= (p.Phe224=) | |
| MT | m.3977T>A | CA414773922 | MT-ND1 | c.671T>A (p.Phe224Tyr) | |
| MT | m.3977T>C | CA414773923 | MT-ND1 | c.671T>C (p.Phe224Ser) | |
| MT | m.3977T>G | CA414773924 | MT-ND1 | c.671T>G (p.Phe224Cys) | |
| MT | m.3977T= | CA2573328989 | MT-ND1 | c.671T= (p.Phe224=) | |
| MT | m.3978C>A | CA414773925 | MT-ND1 | c.672C>A (p.Phe224Leu) | |
| MT | m.3978C= | CA2573328992 | MT-ND1 | c.672C= (p.Phe224=) | |
| MT | m.3978C>G | CA414773926 | MT-ND1 | c.672C>G (p.Phe224Leu) | |
| MT | m.3978C>T | CA913176495 | MT-ND1 | c.672C>T (p.Phe224=) | |
| MT | m.3979A= | CA2499563678 | MT-ND1 | c.673A= (p.Ile225=) | |
| MT | m.3979A>C | CA414773927 | MT-ND1 | c.673A>C (p.Ile225Leu) | |
| MT | m.3979A>G | CA414773928 | MT-ND1 | c.673A>G (p.Ile225Val) | dbSNP |
| MT | m.3979A>T | CA414773929 | MT-ND1 | c.673A>T (p.Ile225Leu) | |
| MT | m.3980T>A | CA414773932 | MT-ND1 | c.674T>A (p.Ile225Lys) | |
| MT | m.3980T>C | CA414773931 | MT-ND1 | c.674T>C (p.Ile225Thr) | dbSNP |
| MT | m.3980T>G | CA414773930 | MT-ND1 | c.674T>G (p.Ile225Arg) | |
| MT | m.3980T= | CA2499563679 | MT-ND1 | c.674T= (p.Ile225=) | |
| MT | m.3981A= | CA2499563680 | MT-ND1 | c.675A= (p.Ile225=) | |
| MT | m.3981A>C | CA913176602 | MT-ND1 | c.675A>C (p.Ile225=) | |
| MT | m.3981A>G | CA414773933 | MT-ND1 | c.675A>G (p.Ile225Met) | dbSNP |
| MT | m.3981A>T | CA913176603 | MT-ND1 | c.675A>T (p.Ile225=) | |
| MT | m.3982G>A | CA414773934 | MT-ND1 | c.676G>A (p.Ala226Thr) | dbSNP COSMIC COSMIC |
| MT | m.3982G>C | CA414773935 | MT-ND1 | c.676G>C (p.Ala226Pro) | |
| MT | m.3982G= | CA2499563681 | MT-ND1 | c.676G= (p.Ala226=) | |
| MT | m.3982G>T | CA414773936 | MT-ND1 | c.676G>T (p.Ala226Ser) | |
| MT | m.3983C>A | CA414773937 | MT-ND1 | c.677C>A (p.Ala226Asp) | |
| MT | m.3983C= | CA2573328998 | MT-ND1 | c.677C= (p.Ala226=) | |
| MT | m.3983C>G | CA414773938 | MT-ND1 | c.677C>G (p.Ala226Gly) | |
| MT | m.3983C>T | CA414773939 | MT-ND1 | c.677C>T (p.Ala226Val) | |
| MT | m.3984C>A | CA913176622 | MT-ND1 | c.678C>A (p.Ala226=) | |
| MT | m.3984C= | CA2499563682 | MT-ND1 | c.678C= (p.Ala226=) | |
| MT | m.3984C>G | CA913176621 | MT-ND1 | c.678C>G (p.Ala226=) | |
| MT | m.3984C>T | CA913176620 | MT-ND1 | c.678C>T (p.Ala226=) | dbSNP |
| MT | m.3985G>A | CA414773940 | MT-ND1 | c.679G>A (p.Glu227Lys) | |
| MT | m.3985G>C | CA414773941 | MT-ND1 | c.679G>C (p.Glu227Gln) | |
| MT | m.3985G= | CA2573329003 | MT-ND1 | c.679G= (p.Glu227=) | |
| MT | m.3985G>T | CA414773942 | MT-ND1 | c.679G>T (p.Glu227Ter) | |
| MT | m.3986A= | CA2573329005 | MT-ND1 | c.680A= (p.Glu227=) | |
| MT | m.3986A>C | CA414773943 | MT-ND1 | c.680A>C (p.Glu227Ala) | |
| MT | m.3986A>G | CA414773944 | MT-ND1 | c.680A>G (p.Glu227Gly) | |
| MT | m.3986A>T | CA414773945 | MT-ND1 | c.680A>T (p.Glu227Val) | |
| MT | m.3987A= | CA2499563683 | MT-ND1 | c.681A= (p.Glu227=) | |
| MT | m.3987A>C | CA414773947 | MT-ND1 | c.681A>C (p.Glu227Asp) | |
| MT | m.3987A>G | CA913176624 | MT-ND1 | c.681A>G (p.Glu227=) | dbSNP |
| MT | m.3987A>T | CA414773946 | MT-ND1 | c.681A>T (p.Glu227Asp) | |
| MT | m.3988T>A | CA414773948 | MT-ND1 | c.682T>A (p.Tyr228Asn) | |
| MT | m.3988T>C | CA414773949 | MT-ND1 | c.682T>C (p.Tyr228His) | |
| MT | m.3988T>G | CA414773950 | MT-ND1 | c.682T>G (p.Tyr228Asp) | |
| MT | m.3988T= | CA2573329010 | MT-ND1 | c.682T= (p.Tyr228=) | |
| MT | m.3989A= | CA2573329012 | MT-ND1 | c.683A= (p.Tyr228=) | |
| MT | m.3989A>C | CA414773951 | MT-ND1 | c.683A>C (p.Tyr228Ser) | |
| MT | m.3989A>G | CA414773952 | MT-ND1 | c.683A>G (p.Tyr228Cys) | |
| MT | m.3989A>T | CA414773953 | MT-ND1 | c.683A>T (p.Tyr228Phe) | |
| MT | m.3992_3993del | CA2573104404 | MT-ND1 | c.686_687del (p.Thr229LysfsTer19) | |
| MT | m.3990C>A | CA414773954 | MT-ND1 | c.684C>A (p.Tyr228Ter) | |
| MT | m.3990C= | CA2499563684 | MT-ND1 | c.684C= (p.Tyr228=) | |
| MT | m.3990C>G | CA414773955 | MT-ND1 | c.684C>G (p.Tyr228Ter) | |
| MT | m.3990C>T | CA10581270 | MT-ND1 | c.684C>T (p.Tyr228=) | ClinVar dbSNP |
| MT | m.3991A= | CA2499563685 | MT-ND1 | c.685A= (p.Thr229=) | |
| MT | m.3991A>C | CA414773956 | MT-ND1 | c.685A>C (p.Thr229Pro) | |
| MT | m.3991A>G | CA414773957 | MT-ND1 | c.685A>G (p.Thr229Ala) | ClinVar dbSNP |
| MT | m.3991A>T | CA414773958 | MT-ND1 | c.685A>T (p.Thr229Ser) | |
| MT | m.3992C>A | CA414773959 | MT-ND1 | c.686C>A (p.Thr229Lys) | |
| MT | m.3992C= | CA2499563686 | MT-ND1 | c.686C= (p.Thr229=) | |
| MT | m.3992C>G | CA414773960 | MT-ND1 | c.686C>G (p.Thr229Arg) | |
| MT | m.3992C>T | CA337096751 | MT-ND1 | c.686C>T (p.Thr229Ile) | ClinVar dbSNP |
| MT | m.3993A= | CA2499563687 | MT-ND1 | c.687A= (p.Thr229=) | |
| MT | m.3993A>C | CA913176674 | MT-ND1 | c.687A>C (p.Thr229=) | |
| MT | m.3993A>G | CA913176666 | MT-ND1 | c.687A>G (p.Thr229=) | dbSNP |
| MT | m.3993A>T | CA913176664 | MT-ND1 | c.687A>T (p.Thr229=) | |
| MT | m.3994A= | CA2573329022 | MT-ND1 | c.688A= (p.Asn230=) | |
| MT | m.3994A>C | CA414773961 | MT-ND1 | c.688A>C (p.Asn230His) | |
| MT | m.3994A>G | CA414773963 | MT-ND1 | c.688A>G (p.Asn230Asp) | |
| MT | m.3994A>T | CA414773962 | MT-ND1 | c.688A>T (p.Asn230Tyr) | |
| MT | m.3995A= | CA2499563688 | MT-ND1 | c.689A= (p.Asn230=) | |
| MT | m.3995A>C | CA414773964 | MT-ND1 | c.689A>C (p.Asn230Thr) | dbSNP |
| MT | m.3995A>G | CA414773965 | MT-ND1 | c.689A>G (p.Asn230Ser) | ClinVar dbSNP |
| MT | m.3995A>T | CA414773966 | MT-ND1 | c.689A>T (p.Asn230Ile) | |
| MT | m.3996C>A | CA414773967 | MT-ND1 | c.690C>A (p.Asn230Lys) | |
| MT | m.3996C= | CA2499563689 | MT-ND1 | c.690C= (p.Asn230=) | |
| MT | m.3996C>G | CA414773968 | MT-ND1 | c.690C>G (p.Asn230Lys) | |
| MT | m.3996C>T | CA913176688 | MT-ND1 | c.690C>T (p.Asn230=) | dbSNP |
| MT | m.3997A= | CA2573329038 | MT-ND1 | c.691A= (p.Ile231=) | |
| MT | m.3997A>C | CA414773969 | MT-ND1 | c.691A>C (p.Ile231Leu) | |
| MT | m.3997A>G | CA414773970 | MT-ND1 | c.691A>G (p.Ile231Val) | |
| MT | m.3997A>T | CA414773971 | MT-ND1 | c.691A>T (p.Ile231Phe) | |
| MT | m.4002_4004del | CA2573104408 | MT-ND1 | c.696_698del (p.Ile233del) | |
| MT | m.3998T>A | CA414773972 | MT-ND1 | c.692T>A (p.Ile231Asn) | |
| MT | m.3998T>C | CA414773973 | MT-ND1 | c.692T>C (p.Ile231Thr) | dbSNP |
| MT | m.3998T>G | CA414773974 | MT-ND1 | c.692T>G (p.Ile231Ser) | |
| MT | m.3998T= | CA2499563690 | MT-ND1 | c.692T= (p.Ile231=) | |
| MT | m.3999T>A | CA913176696 | MT-ND1 | c.693T>A (p.Ile231=) | |
| MT | m.3999T>C | CA913176694 | MT-ND1 | c.693T>C (p.Ile231=) | |
| MT | m.3999T>G | CA414773975 | MT-ND1 | c.693T>G (p.Ile231Met) | |
| MT | m.3999T= | CA2573329040 | MT-ND1 | c.693T= (p.Ile231=) | |
| MT | m.4000A= | CA2573329042 | MT-ND1 | c.694A= (p.Ile232=) | |
| MT | m.4000A>C | CA414773976 | MT-ND1 | c.694A>C (p.Ile232Leu) | |
| MT | m.4000A>G | CA414773977 | MT-ND1 | c.694A>G (p.Ile232Val) | |
| MT | m.4000A>T | CA414773978 | MT-ND1 | c.694A>T (p.Ile232Phe) | |
| MT | m.4001T>A | CA414773979 | MT-ND1 | c.695T>A (p.Ile232Asn) | |
| MT | m.4001T>C | CA414773980 | MT-ND1 | c.695T>C (p.Ile232Thr) | dbSNP |
| MT | m.4001T>G | CA414773981 | MT-ND1 | c.695T>G (p.Ile232Ser) | |
| MT | m.4001T= | CA2499563691 | MT-ND1 | c.695T= (p.Ile232=) | |
| MT | m.4002T>A | CA913176704 | MT-ND1 | c.696T>A (p.Ile232=) | |
| MT | m.4002T>C | CA913176703 | MT-ND1 | c.696T>C (p.Ile232=) | dbSNP |
| MT | m.4002T>G | CA414773982 | MT-ND1 | c.696T>G (p.Ile232Met) | |
| MT | m.4002T= | CA2499563692 | MT-ND1 | c.696T= (p.Ile232=) | |
| MT | m.4003A= | CA2573329046 | MT-ND1 | c.697A= (p.Ile233=) | |
| MT | m.4003A>C | CA414773983 | MT-ND1 | c.697A>C (p.Ile233Leu) | |
| MT | m.4003A>G | CA414773984 | MT-ND1 | c.697A>G (p.Ile233Val) | |
| MT | m.4003A>T | CA414773985 | MT-ND1 | c.697A>T (p.Ile233Leu) | |
| MT | m.4004T>A | CA414773988 | MT-ND1 | c.698T>A (p.Ile233Lys) | |
| MT | m.4004T>C | CA414773987 | MT-ND1 | c.698T>C (p.Ile233Thr) | |
| MT | m.4004T>G | CA414773986 | MT-ND1 | c.698T>G (p.Ile233Arg) | |
| MT | m.4004T= | CA2573329048 | MT-ND1 | c.698T= (p.Ile233=) | |
| MT | m.4005A= | CA2499563693 | MT-ND1 | c.699A= (p.Ile233=) | |
| MT | m.4005A>C | CA913176709 | MT-ND1 | c.699A>C (p.Ile233=) | |
| MT | m.4005A>G | CA414773989 | MT-ND1 | c.699A>G (p.Ile233Met) | dbSNP |
| MT | m.4005A>T | CA913176708 | MT-ND1 | c.699A>T (p.Ile233=) | |
| MT | m.4006A= | CA2573329051 | MT-ND1 | c.700A= (p.Ile234=) | |
| MT | m.4006A>C | CA414773990 | MT-ND1 | c.700A>C (p.Ile234Leu) | |
| MT | m.4006A>G | CA414773991 | MT-ND1 | c.700A>G (p.Ile234Val) | |
| MT | m.4006A>T | CA414773992 | MT-ND1 | c.700A>T (p.Ile234Leu) | |
| MT | m.4007T>A | CA414773993 | MT-ND1 | c.701T>A (p.Ile234Lys) | |
| MT | m.4007T>C | CA414773994 | MT-ND1 | c.701T>C (p.Ile234Thr) | |
| MT | m.4007T>G | CA414773995 | MT-ND1 | c.701T>G (p.Ile234Arg) | |
| MT | m.4007T= | CA2573329053 | MT-ND1 | c.701T= (p.Ile234=) | |
| MT | m.4008A= | CA2573329054 | MT-ND1 | c.702A= (p.Ile234=) | |
| MT | m.4008A>C | CA913176716 | MT-ND1 | c.702A>C (p.Ile234=) | |
| MT | m.4008A>G | CA414773996 | MT-ND1 | c.702A>G (p.Ile234Met) | |
| MT | m.4008A>T | CA913176717 | MT-ND1 | c.702A>T (p.Ile234=) | |
| MT | m.4009A= | CA2573329057 | MT-ND1 | c.703A= (p.Asn235=) | |
| MT | m.4009A>C | CA414773997 | MT-ND1 | c.703A>C (p.Asn235His) | |
| MT | m.4009A>G | CA414773998 | MT-ND1 | c.703A>G (p.Asn235Asp) | |
| MT | m.4009A>T | CA414773999 | MT-ND1 | c.703A>T (p.Asn235Tyr) | |
| MT | m.4010A= | CA2573329059 | MT-ND1 | c.704A= (p.Asn235=) | |
| MT | m.4010A>C | CA414774002 | MT-ND1 | c.704A>C (p.Asn235Thr) | |
| MT | m.4010A>G | CA414774000 | MT-ND1 | c.704A>G (p.Asn235Ser) | |
| MT | m.4010A>T | CA414774001 | MT-ND1 | c.704A>T (p.Asn235Ile) | |
| MT | m.4011C>A | CA414774003 | MT-ND1 | c.705C>A (p.Asn235Lys) | |
| MT | m.4011C= | CA2499563694 | MT-ND1 | c.705C= (p.Asn235=) | |
| MT | m.4011C>G | CA414774004 | MT-ND1 | c.705C>G (p.Asn235Lys) | |
| MT | m.4011C>T | CA913176726 | MT-ND1 | c.705C>T (p.Asn235=) | dbSNP |
| MT | m.4012A= | CA2499563695 | MT-ND1 | c.706A= (p.Thr236=) | |
| MT | m.4012A>C | CA414774005 | MT-ND1 | c.706A>C (p.Thr236Pro) | |
| MT | m.4012A>G | CA337096753 | MT-ND1 | c.706A>G (p.Thr236Ala) | ClinVar dbSNP |
| MT | m.4012A>T | CA414774006 | MT-ND1 | c.706A>T (p.Thr236Ser) | |
| MT | m.4013C>A | CA414774007 | MT-ND1 | c.707C>A (p.Thr236Asn) | |
| MT | m.4013C= | CA2499563696 | MT-ND1 | c.707C= (p.Thr236=) | |
| MT | m.4013C>G | CA414774008 | MT-ND1 | c.707C>G (p.Thr236Ser) | |
| MT | m.4013C>T | CA414774009 | MT-ND1 | c.707C>T (p.Thr236Ile) | ClinVar dbSNP |
| MT | m.4014C>A | CA913176753 | MT-ND1 | c.708C>A (p.Thr236=) | |
| MT | m.4014C= | CA2573329065 | MT-ND1 | c.708C= (p.Thr236=) | |
| MT | m.4014C>G | CA913176747 | MT-ND1 | c.708C>G (p.Thr236=) | |
| MT | m.4014C>T | CA913176738 | MT-ND1 | c.708C>T (p.Thr236=) | |
| MT | m.4015C>A | CA414774010 | MT-ND1 | c.709C>A (p.Leu237Ile) | |
| MT | m.4015C= | CA2573329067 | MT-ND1 | c.709C= (p.Leu237=) | |
| MT | m.4015C>G | CA414774011 | MT-ND1 | c.709C>G (p.Leu237Val) | |
| MT | m.4015C>T | CA414774012 | MT-ND1 | c.709C>T (p.Leu237Phe) | |
| MT | m.4016T>A | CA414774014 | MT-ND1 | c.710T>A (p.Leu237His) | |
| MT | m.4016T>C | CA414774015 | MT-ND1 | c.710T>C (p.Leu237Pro) | |
| MT | m.4016T>G | CA414774013 | MT-ND1 | c.710T>G (p.Leu237Arg) | |
| MT | m.4016T= | CA2513618319 | MT-ND1 | c.710T= (p.Leu237=) | |
| MT | m.4017C>A | CA337096755 | MT-ND1 | c.711C>A (p.Leu237=) | |
| MT | m.4017C= | CA2499563697 | MT-ND1 | c.711C= (p.Leu237=) | |
| MT | m.4017C>G | CA337096757 | MT-ND1 | c.711C>G (p.Leu237=) | |
| MT | m.4017C>T | CA913176772 | MT-ND1 | c.711C>T (p.Leu237=) | dbSNP |
| MT | m.4018A= | CA2573329074 | MT-ND1 | c.712A= (p.Thr238=) | |
| MT | m.4018A>C | CA414774018 | MT-ND1 | c.712A>C (p.Thr238Pro) | |
| MT | m.4018A>G | CA414774016 | MT-ND1 | c.712A>G (p.Thr238Ala) | |
| MT | m.4018A>T | CA414774017 | MT-ND1 | c.712A>T (p.Thr238Ser) | |
| MT | m.4019C>A | CA414774019 | MT-ND1 | c.713C>A (p.Thr238Asn) | |
| MT | m.4019C= | CA2573329076 | MT-ND1 | c.713C= (p.Thr238=) | |
| MT | m.4019C>G | CA414774020 | MT-ND1 | c.713C>G (p.Thr238Ser) | |
| MT | m.4019C>T | CA414774021 | MT-ND1 | c.713C>T (p.Thr238Ile) | |
| MT | m.4020C>A | CA913176774 | MT-ND1 | c.714C>A (p.Thr238=) | |
| MT | m.4020C= | CA2573329078 | MT-ND1 | c.714C= (p.Thr238=) | |
| MT | m.4020C>G | CA913176775 | MT-ND1 | c.714C>G (p.Thr238=) | |
| MT | m.4020C>T | CA913176776 | MT-ND1 | c.714C>T (p.Thr238=) | dbSNP |
| MT | m.4021A= | CA2499563698 | MT-ND1 | c.715A= (p.Thr239=) | |
| MT | m.4021A>C | CA414774022 | MT-ND1 | c.715A>C (p.Thr239Pro) | |
| MT | m.4021A>G | CA337096759 | MT-ND1 | c.715A>G (p.Thr239Ala) | ClinVar dbSNP |
| MT | m.4021A>T | CA414774023 | MT-ND1 | c.715A>T (p.Thr239Ser) | |
| MT | m.4023_4025del | CA2573104412 | MT-ND1 | c.717_719del (p.Thr240del) | |
| MT | m.4022C>A | CA414774024 | MT-ND1 | c.716C>A (p.Thr239Asn) | |
| MT | m.4022C= | CA2573329082 | MT-ND1 | c.716C= (p.Thr239=) | |
| MT | m.4022C>G | CA414774025 | MT-ND1 | c.716C>G (p.Thr239Ser) | |
| MT | m.4022C>T | CA414774026 | MT-ND1 | c.716C>T (p.Thr239Ile) | |
| MT | m.4023T>A | CA913176799 | MT-ND1 | c.717T>A (p.Thr239=) | |
| MT | m.4023T>C | CA10581309 | MT-ND1 | c.717T>C (p.Thr239=) | ClinVar dbSNP |
| MT | m.4023T>G | CA913176801 | MT-ND1 | c.717T>G (p.Thr239=) | |
| MT | m.4023T= | CA2499563699 | MT-ND1 | c.717T= (p.Thr239=) | |
| MT | m.4024A= | CA2499563700 | MT-ND1 | c.718A= (p.Thr240=) | |
| MT | m.4024A>C | CA414774028 | MT-ND1 | c.718A>C (p.Thr240Pro) | |
| MT | m.4024A>G | CA337096762 | MT-ND1 | c.718A>G (p.Thr240Ala) | ClinVar dbSNP |
| MT | m.4024A>T | CA414774027 | MT-ND1 | c.718A>T (p.Thr240Ser) | |
| MT | m.4025C>A | CA337096766 | MT-ND1 | c.719C>A (p.Thr240Lys) | |
| MT | m.4025C= | CA2499563701 | MT-ND1 | c.719C= (p.Thr240=) | |
| MT | m.4025C>G | CA337096764 | MT-ND1 | c.719C>G (p.Thr240Arg) | |
| MT | m.4025C>T | CA344829 | MT-ND1 | c.719C>T (p.Thr240Ile) | ClinVar dbSNP |
| MT | m.4026A= | CA2499563702 | MT-ND1 | c.720A= (p.Thr240=) | |
| MT | m.4026A>C | CA913176804 | MT-ND1 | c.720A>C (p.Thr240=) | |
| MT | m.4026A>G | CA913176805 | MT-ND1 | c.720A>G (p.Thr240=) | dbSNP |
| MT | m.4026A>T | CA913176806 | MT-ND1 | c.720A>T (p.Thr240=) | |
| MT | m.4027A= | CA2573329094 | MT-ND1 | c.721A= (p.Ile241=) | |
| MT | m.4027A>C | CA414774029 | MT-ND1 | c.721A>C (p.Ile241Leu) | |
| MT | m.4027A>G | CA414774030 | MT-ND1 | c.721A>G (p.Ile241Val) | |
| MT | m.4027A>T | CA414774031 | MT-ND1 | c.721A>T (p.Ile241Phe) | |
| MT | m.4028T>A | CA414774032 | MT-ND1 | c.722T>A (p.Ile241Asn) | |
| MT | m.4028T>C | CA414774033 | MT-ND1 | c.722T>C (p.Ile241Thr) | dbSNP |
| MT | m.4028T>G | CA414774034 | MT-ND1 | c.722T>G (p.Ile241Ser) | |
| MT | m.4028T= | CA2499563703 | MT-ND1 | c.722T= (p.Ile241=) | |
| MT | m.4029C>A | CA913176820 | MT-ND1 | c.723C>A (p.Ile241=) | ClinVar dbSNP |
| MT | m.4029C= | CA2499563704 | MT-ND1 | c.723C= (p.Ile241=) | |
| MT | m.4029C>G | CA414774035 | MT-ND1 | c.723C>G (p.Ile241Met) | |
| MT | m.4029C>T | CA913176821 | MT-ND1 | c.723C>T (p.Ile241=) | dbSNP |
| MT | m.4030T>A | CA414774038 | MT-ND1 | c.724T>A (p.Phe242Ile) | |
| MT | m.4030T>C | CA414774037 | MT-ND1 | c.724T>C (p.Phe242Leu) | |
| MT | m.4030T>G | CA414774036 | MT-ND1 | c.724T>G (p.Phe242Val) | |
| MT | m.4030T= | CA2573329101 | MT-ND1 | c.724T= (p.Phe242=) | |
| MT | m.4031T>A | CA414774039 | MT-ND1 | c.725T>A (p.Phe242Tyr) | |
| MT | m.4031T>C | CA414774040 | MT-ND1 | c.725T>C (p.Phe242Ser) | |
| MT | m.4031T>G | CA414774041 | MT-ND1 | c.725T>G (p.Phe242Cys) | |
| MT | m.4031T= | CA2573329104 | MT-ND1 | c.725T= (p.Phe242=) | |
| MT | m.4032C>A | CA414774042 | MT-ND1 | c.726C>A (p.Phe242Leu) | |
| MT | m.4032C= | CA2573329107 | MT-ND1 | c.726C= (p.Phe242=) | |
| MT | m.4032C>G | CA414774043 | MT-ND1 | c.726C>G (p.Phe242Leu) | |
| MT | m.4032C>T | CA913176836 | MT-ND1 | c.726C>T (p.Phe242=) | |
| MT | m.4033C>A | CA414774044 | MT-ND1 | c.727C>A (p.Leu243Ile) | |
| MT | m.4033C= | CA2499563705 | MT-ND1 | c.727C= (p.Leu243=) | |
| MT | m.4033C>G | CA414774045 | MT-ND1 | c.727C>G (p.Leu243Val) | |
| MT | m.4033C>T | CA913176837 | MT-ND1 | c.727C>T (p.Leu243=) | dbSNP |
| MT | m.4034T>A | CA414774046 | MT-ND1 | c.728T>A (p.Leu243Gln) | |
| MT | m.4034T>C | CA414774047 | MT-ND1 | c.728T>C (p.Leu243Pro) | |
| MT | m.4034T>G | CA414774048 | MT-ND1 | c.728T>G (p.Leu243Arg) | |
| MT | m.4034T= | CA2573329111 | MT-ND1 | c.728T= (p.Leu243=) | |
| MT | m.4035A= | CA2499563706 | MT-ND1 | c.729A= (p.Leu243=) | |
| MT | m.4035A>C | CA913176839 | MT-ND1 | c.729A>C (p.Leu243=) | |
| MT | m.4035A>G | CA913176840 | MT-ND1 | c.729A>G (p.Leu243=) | dbSNP |
| MT | m.4035A>T | CA913176838 | MT-ND1 | c.729A>T (p.Leu243=) | |
| MT | m.4036G>A | CA414774049 | MT-ND1 | c.730G>A (p.Gly244Arg) | |
| MT | m.4036G>C | CA414774050 | MT-ND1 | c.730G>C (p.Gly244Arg) | |
| MT | m.4036G= | CA2573329112 | MT-ND1 | c.730G= (p.Gly244=) | |
| MT | m.4036G>T | CA414774051 | MT-ND1 | c.730G>T (p.Gly244Ter) | |
| MT | m.4037G>A | CA414774052 | MT-ND1 | c.731G>A (p.Gly244Glu) | |
| MT | m.4037G>C | CA414774054 | MT-ND1 | c.731G>C (p.Gly244Ala) | |
| MT | m.4037G= | CA2512988485 | MT-ND1 | c.731G= (p.Gly244=) | |
| MT | m.4037G>T | CA414774053 | MT-ND1 | c.731G>T (p.Gly244Val) | |
| MT | m.4038A= | CA2499563707 | MT-ND1 | c.732A= (p.Gly244=) | |
| MT | m.4038A>C | CA913176841 | MT-ND1 | c.732A>C (p.Gly244=) | |
| MT | m.4038A>G | CA913176842 | MT-ND1 | c.732A>G (p.Gly244=) | dbSNP |
| MT | m.4038A>T | CA913176843 | MT-ND1 | c.732A>T (p.Gly244=) | |
| MT | m.4039_4044del | CA2573104414 | MT-ND1 | c.733_738del (p.Thr245_Thr246del) | |
| MT | m.4039A= | CA2573329113 | MT-ND1 | c.733A= (p.Thr245=) | |
| MT | m.4039A>C | CA414774055 | MT-ND1 | c.733A>C (p.Thr245Pro) | |
| MT | m.4039A>G | CA414774056 | MT-ND1 | c.733A>G (p.Thr245Ala) | |
| MT | m.4039A>T | CA414774057 | MT-ND1 | c.733A>T (p.Thr245Ser) | |
| MT | m.4040C>A | CA414774058 | MT-ND1 | c.734C>A (p.Thr245Lys) | |
| MT | m.4040C= | CA2573329114 | MT-ND1 | c.734C= (p.Thr245=) | |
| MT | m.4040C>G | CA414774059 | MT-ND1 | c.734C>G (p.Thr245Arg) | |
| MT | m.4040C>T | CA414774060 | MT-ND1 | c.734C>T (p.Thr245Ile) | |
| MT | m.4040_4041insTTTT | CA2573104415 | MT-ND1 | c.734_735insTTTT (p.Thr246PhefsTer4) | |
| MT | m.4041A= | CA2573329115 | MT-ND1 | c.735A= (p.Thr245=) | |
| MT | m.4041A>C | CA913176845 | MT-ND1 | c.735A>C (p.Thr245=) | |
| MT | m.4041A>G | CA913176844 | MT-ND1 | c.735A>G (p.Thr245=) | |
| MT | m.4041A>T | CA913176846 | MT-ND1 | c.735A>T (p.Thr245=) | |
| MT | m.4042A= | CA2499563708 | MT-ND1 | c.736A= (p.Thr246=) | |
| MT | m.4042A>C | CA414774061 | MT-ND1 | c.736A>C (p.Thr246Pro) | |
| MT | m.4042A>G | CA414774062 | MT-ND1 | c.736A>G (p.Thr246Ala) | dbSNP |
| MT | m.4042A>T | CA414774063 | MT-ND1 | c.736A>T (p.Thr246Ser) | |
| MT | m.4042_4043insT | CA2573104417 | MT-ND1 | c.736_737insT (p.Thr246IlefsTer3) | |
| MT | m.4043C>A | CA414774066 | MT-ND1 | c.737C>A (p.Thr246Lys) | |
| MT | m.4043C= | CA2573329118 | MT-ND1 | c.737C= (p.Thr246=) | |
| MT | m.4043C>G | CA414774065 | MT-ND1 | c.737C>G (p.Thr246Arg) | |
| MT | m.4043C>T | CA414774064 | MT-ND1 | c.737C>T (p.Thr246Ile) | |
| MT | m.4043_4045del | CA2573104416 | MT-ND1 | c.737_739del (p.Thr246_Tyr247delinsAsn) | |
| MT | m.4044A= | CA2499563709 | MT-ND1 | c.738A= (p.Thr246=) | |
| MT | m.4044A>C | CA913176847 | MT-ND1 | c.738A>C (p.Thr246=) | |
| MT | m.4044A>G | CA913176848 | MT-ND1 | c.738A>G (p.Thr246=) | dbSNP |
| MT | m.4044A>T | CA913176849 | MT-ND1 | c.738A>T (p.Thr246=) | |
| MT | m.4045T>A | CA414774067 | MT-ND1 | c.739T>A (p.Tyr247Asn) | |
| MT | m.4045T>C | CA414774069 | MT-ND1 | c.739T>C (p.Tyr247His) | |
| MT | m.4045T>G | CA414774068 | MT-ND1 | c.739T>G (p.Tyr247Asp) | |
| MT | m.4045T= | CA2573329122 | MT-ND1 | c.739T= (p.Tyr247=) | |
| MT | m.4045_4046insTTTTTA | CA2573104418 | MT-ND1 | c.739_740insTTTTTA (p.Tyr247delinsPhePheAsn) | |
| MT | m.4046A= | CA2573329124 | MT-ND1 | c.740A= (p.Tyr247=) | |
| MT | m.4046A>C | CA414774070 | MT-ND1 | c.740A>C (p.Tyr247Ser) | |
| MT | m.4046A>G | CA414774071 | MT-ND1 | c.740A>G (p.Tyr247Cys) | |
| MT | m.4046A>T | CA414774072 | MT-ND1 | c.740A>T (p.Tyr247Phe) | |
| MT | m.4047T>A | CA414774073 | MT-ND1 | c.741T>A (p.Tyr247Ter) | |
| MT | m.4047T>C | CA337096769 | MT-ND1 | c.741T>C (p.Tyr247=) | dbSNP |
| MT | m.4047T>G | CA414774074 | MT-ND1 | c.741T>G (p.Tyr247Ter) | |
| MT | m.4047T= | CA2499563710 | MT-ND1 | c.741T= (p.Tyr247=) | |
| MT | m.4048G>A | CA337096771 | MT-ND1 | c.742G>A (p.Asp248Asn) | ClinVar dbSNP |
| MT | m.4048G>C | CA414774075 | MT-ND1 | c.742G>C (p.Asp248His) | |
| MT | m.4048G= | CA2499563711 | MT-ND1 | c.742G= (p.Asp248=) | |
| MT | m.4048G>T | CA414774076 | MT-ND1 | c.742G>T (p.Asp248Tyr) | |
| MT | m.4049A= | CA2573329127 | MT-ND1 | c.743A= (p.Asp248=) | |
| MT | m.4049A>C | CA414774079 | MT-ND1 | c.743A>C (p.Asp248Ala) | |
| MT | m.4049A>G | CA414774078 | MT-ND1 | c.743A>G (p.Asp248Gly) | |
| MT | m.4049A>T | CA414774077 | MT-ND1 | c.743A>T (p.Asp248Val) | |
| MT | m.4049_4050insTACGG | CA2573104420 | MT-ND1 | c.743_744insTACGG (p.Ala249ThrfsTer20) | |
| MT | m.4050C>A | CA414774080 | MT-ND1 | c.744C>A (p.Asp248Glu) | |
| MT | m.4050C= | CA2499563712 | MT-ND1 | c.744C= (p.Asp248=) | |
| MT | m.4050C>G | CA414774081 | MT-ND1 | c.744C>G (p.Asp248Glu) | |
| MT | m.4050C>T | CA913176856 | MT-ND1 | c.744C>T (p.Asp248=) | dbSNP |
| MT | m.4051G>A | CA414774082 | MT-ND1 | c.745G>A (p.Ala249Thr) | dbSNP |
| MT | m.4051G>C | CA414774083 | MT-ND1 | c.745G>C (p.Ala249Pro) | |
| MT | m.4051G= | CA2573329131 | MT-ND1 | c.745G= (p.Ala249=) | |
| MT | m.4051G>T | CA414774084 | MT-ND1 | c.745G>T (p.Ala249Ser) | |
| MT | m.4052del | CA2573104422 | MT-ND1 | c.746del (p.Ala249AspfsTer18) | |
| MT | m.4052C>A | CA414774085 | MT-ND1 | c.746C>A (p.Ala249Glu) | |
| MT | m.4052C= | CA2573329133 | MT-ND1 | c.746C= (p.Ala249=) | |
| MT | m.4052C>G | CA414774086 | MT-ND1 | c.746C>G (p.Ala249Gly) | |
| MT | m.4052C>T | CA414774087 | MT-ND1 | c.746C>T (p.Ala249Val) | |
| MT | m.4053A= | CA2499563713 | MT-ND1 | c.747A= (p.Ala249=) | |
| MT | m.4053A>C | CA913176857 | MT-ND1 | c.747A>C (p.Ala249=) | |
| MT | m.4053A>G | CA913176858 | MT-ND1 | c.747A>G (p.Ala249=) | dbSNP |
| MT | m.4053A>T | CA913176859 | MT-ND1 | c.747A>T (p.Ala249=) | dbSNP |
| MT | m.4053_4055del | CA2573104423 | MT-ND1 | c.747_749del (p.Leu250del) | |
| MT | m.4054C>A | CA414774088 | MT-ND1 | c.748C>A (p.Leu250Ile) | |
| MT | m.4054C= | CA2573329135 | MT-ND1 | c.748C= (p.Leu250=) | |
| MT | m.4054C>G | CA414774089 | MT-ND1 | c.748C>G (p.Leu250Val) | |
| MT | m.4054C>T | CA414774090 | MT-ND1 | c.748C>T (p.Leu250Phe) | |
| MT | m.4055del | CA2573104424 | MT-ND1 | c.749del (p.Leu250ProfsTer17) | |
| MT | m.4055T>A | CA414774092 | MT-ND1 | c.749T>A (p.Leu250His) | dbSNP |
| MT | m.4055T>C | CA414774093 | MT-ND1 | c.749T>C (p.Leu250Pro) | ClinVar dbSNP |
| MT | m.4055T>G | CA414774091 | MT-ND1 | c.749T>G (p.Leu250Arg) | |
| MT | m.4055T= | CA2499563714 | MT-ND1 | c.749T= (p.Leu250=) | |
| MT | m.4055_4057del | CA2573104425 | MT-ND1 | c.749_751del (p.Leu250_Ser251delinsPro) | |
| MT | m.4056C>A | CA913176862 | MT-ND1 | c.750C>A (p.Leu250=) | |
| MT | m.4056C= | CA2499563715 | MT-ND1 | c.750C= (p.Leu250=) | |
| MT | m.4056C>G | CA913176860 | MT-ND1 | c.750C>G (p.Leu250=) | |
| MT | m.4056C>T | CA913176861 | MT-ND1 | c.750C>T (p.Leu250=) | dbSNP |
| MT | m.4057T>A | CA414774094 | MT-ND1 | c.751T>A (p.Ser251Thr) | |
| MT | m.4057T>C | CA414774095 | MT-ND1 | c.751T>C (p.Ser251Pro) | |
| MT | m.4057T>G | CA414774096 | MT-ND1 | c.751T>G (p.Ser251Ala) | |
| MT | m.4057T= | CA2573329144 | MT-ND1 | c.751T= (p.Ser251=) | |
| MT | m.4058C>A | CA414774097 | MT-ND1 | c.752C>A (p.Ser251Tyr) | |
| MT | m.4058C= | CA2499563716 | MT-ND1 | c.752C= (p.Ser251=) | |
| MT | m.4058C>G | CA414774098 | MT-ND1 | c.752C>G (p.Ser251Cys) | |
| MT | m.4058C>T | CA414774099 | MT-ND1 | c.752C>T (p.Ser251Phe) | ClinVar dbSNP |
| MT | m.4059C>A | CA913176863 | MT-ND1 | c.753C>A (p.Ser251=) | dbSNP |
| MT | m.4059C= | CA2499563717 | MT-ND1 | c.753C= (p.Ser251=) | |
| MT | m.4059C>G | CA913176864 | MT-ND1 | c.753C>G (p.Ser251=) | |
| MT | m.4059C>T | CA913176865 | MT-ND1 | c.753C>T (p.Ser251=) | dbSNP |
| MT | m.4060C>A | CA414774100 | MT-ND1 | c.754C>A (p.Pro252Thr) | |
| MT | m.4060C= | CA2573329150 | MT-ND1 | c.754C= (p.Pro252=) | |
| MT | m.4060C>G | CA414774101 | MT-ND1 | c.754C>G (p.Pro252Ala) | |
| MT | m.4060C>T | CA414774102 | MT-ND1 | c.754C>T (p.Pro252Ser) | |
| MT | m.4060_4062del | CA2573104426 | MT-ND1 | c.754_756del (p.Pro252del) | |
| MT | m.4061C>A | CA414774103 | MT-ND1 | c.755C>A (p.Pro252His) | |
| MT | m.4061C= | CA2573329155 | MT-ND1 | c.755C= (p.Pro252=) | |
| MT | m.4061C>G | CA414774104 | MT-ND1 | c.755C>G (p.Pro252Arg) | |
| MT | m.4061C>T | CA414774105 | MT-ND1 | c.755C>T (p.Pro252Leu) | |
| MT | m.4062del | CA2573104427 | MT-ND1 | c.756del (p.Glu253AsnfsTer14) | |
| MT | m.4062T>A | CA913176868 | MT-ND1 | c.756T>A (p.Pro252=) | |
| MT | m.4062T>C | CA913176867 | MT-ND1 | c.756T>C (p.Pro252=) | dbSNP |
| MT | m.4062T>G | CA913176866 | MT-ND1 | c.756T>G (p.Pro252=) | |
| MT | m.4062T= | CA2499563718 | MT-ND1 | c.756T= (p.Pro252=) | |
| MT | m.4063G>A | CA414774108 | MT-ND1 | c.757G>A (p.Glu253Lys) | dbSNP |
| MT | m.4063G>C | CA414774106 | MT-ND1 | c.757G>C (p.Glu253Gln) | |
| MT | m.4063G= | CA2573329159 | MT-ND1 | c.757G= (p.Glu253=) | |
| MT | m.4063G>T | CA414774107 | MT-ND1 | c.757G>T (p.Glu253Ter) | |
| MT | m.4064A= | CA2573329163 | MT-ND1 | c.758A= (p.Glu253=) | |
| MT | m.4064A>C | CA414774109 | MT-ND1 | c.758A>C (p.Glu253Ala) | |
| MT | m.4064A>G | CA414774110 | MT-ND1 | c.758A>G (p.Glu253Gly) | |
| MT | m.4064A>T | CA414774111 | MT-ND1 | c.758A>T (p.Glu253Val) | |
| MT | m.4065A= | CA2499563719 | MT-ND1 | c.759A= (p.Glu253=) | |
| MT | m.4065A>C | CA337096773 | MT-ND1 | c.759A>C (p.Glu253Asp) | |
| MT | m.4065A>G | CA337096777 | MT-ND1 | c.759A>G (p.Glu253=) | dbSNP |
| MT | m.4065A>T | CA337096775 | MT-ND1 | c.759A>T (p.Glu253Asp) | |
| MT | m.4066C>A | CA414774112 | MT-ND1 | c.760C>A (p.Leu254Ile) | |
| MT | m.4066C= | CA2573329169 | MT-ND1 | c.760C= (p.Leu254=) | |
| MT | m.4066C>G | CA414774113 | MT-ND1 | c.760C>G (p.Leu254Val) | |
| MT | m.4066C>T | CA414774114 | MT-ND1 | c.760C>T (p.Leu254Phe) | |
| MT | m.4067T>A | CA414774115 | MT-ND1 | c.761T>A (p.Leu254His) | |
| MT | m.4067T>C | CA414774116 | MT-ND1 | c.761T>C (p.Leu254Pro) | dbSNP |
| MT | m.4067T>G | CA414774117 | MT-ND1 | c.761T>G (p.Leu254Arg) | |
| MT | m.4067T= | CA2499563720 | MT-ND1 | c.761T= (p.Leu254=) | |
| MT | m.4068C>A | CA913176871 | MT-ND1 | c.762C>A (p.Leu254=) | |
| MT | m.4068C= | CA2573329172 | MT-ND1 | c.762C= (p.Leu254=) | |
| MT | m.4068C>G | CA913176870 | MT-ND1 | c.762C>G (p.Leu254=) | |
| MT | m.4068C>T | CA913176869 | MT-ND1 | c.762C>T (p.Leu254=) | |
| MT | m.4069T>A | CA414774120 | MT-ND1 | c.763T>A (p.Tyr255Asn) | |
| MT | m.4069T>C | CA414774118 | MT-ND1 | c.763T>C (p.Tyr255His) | |
| MT | m.4069T>G | CA414774119 | MT-ND1 | c.763T>G (p.Tyr255Asp) | |
| MT | m.4069T= | CA2573329173 | MT-ND1 | c.763T= (p.Tyr255=) | |
| MT | m.4070A= | CA2573329176 | MT-ND1 | c.764A= (p.Tyr255=) | |
| MT | m.4070A>C | CA414774121 | MT-ND1 | c.764A>C (p.Tyr255Ser) | |
| MT | m.4070A>G | CA414774123 | MT-ND1 | c.764A>G (p.Tyr255Cys) | |
| MT | m.4070A>T | CA414774122 | MT-ND1 | c.764A>T (p.Tyr255Phe) | |
| MT | m.4071C>A | CA337096779 | MT-ND1 | c.765C>A (p.Tyr255Ter) | |
| MT | m.4071C= | CA2499563721 | MT-ND1 | c.765C= (p.Tyr255=) | |
| MT | m.4071C>G | CA337096781 | MT-ND1 | c.765C>G (p.Tyr255Ter) | |
| MT | m.4071C>T | CA337096783 | MT-ND1 | c.765C>T (p.Tyr255=) | dbSNP |
| MT | m.4072A= | CA2573329182 | MT-ND1 | c.766A= (p.Thr256=) | |
| MT | m.4072A>C | CA414774124 | MT-ND1 | c.766A>C (p.Thr256Pro) | |
| MT | m.4072A>G | CA414774126 | MT-ND1 | c.766A>G (p.Thr256Ala) | |
| MT | m.4072A>T | CA414774125 | MT-ND1 | c.766A>T (p.Thr256Ser) |