Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
MT | m.3902_3967del | CA2740098101 | MT-ND1 | c.596_661del (p.Asp199_Phe220del) | |
MT | m.3916dup | CA2573104394 | MT-ND1 | c.610dup (p.Glu204GlyfsTer?) | |
MT | m.3915G>A | CA337096717 | MT-ND1 | c.609G>A (p.Gly203=) | ClinVar dbSNP COSMIC COSMIC |
MT | m.3915G>C | CA913176122 | MT-ND1 | c.609G>C (p.Gly203=) | |
MT | m.3915G= | CA2499563649 | MT-ND1 | c.609G= (p.Gly203=) | |
MT | m.3915G>T | CA913176121 | MT-ND1 | c.609G>T (p.Gly203=) | |
MT | m.3916G>A | CA337096719 | MT-ND1 | c.610G>A (p.Glu204Lys) | dbSNP |
MT | m.3916G>C | CA414773794 | MT-ND1 | c.610G>C (p.Glu204Gln) | |
MT | m.3916G= | CA2499563650 | MT-ND1 | c.610G= (p.Glu204=) | |
MT | m.3916G>T | CA414773795 | MT-ND1 | c.610G>T (p.Glu204Ter) | |
MT | m.3917A= | CA2513031064 | MT-ND1 | c.611A= (p.Glu204=) | |
MT | m.3917A>C | CA414773797 | MT-ND1 | c.611A>C (p.Glu204Ala) | |
MT | m.3917A>G | CA414773798 | MT-ND1 | c.611A>G (p.Glu204Gly) | |
MT | m.3917A>T | CA414773796 | MT-ND1 | c.611A>T (p.Glu204Val) | |
MT | m.3918G>A | CA337096722 | MT-ND1 | c.612G>A (p.Glu204=) | dbSNP |
MT | m.3918G>C | CA10581198 | MT-ND1 | c.612G>C (p.Glu204Asp) | ClinVar dbSNP |
MT | m.3918G= | CA2499563651 | MT-ND1 | c.612G= (p.Glu204=) | |
MT | m.3918G>T | CA414773799 | MT-ND1 | c.612G>T (p.Glu204Asp) | |
MT | m.3919T>A | CA414773800 | MT-ND1 | c.613T>A (p.Ser205Thr) | |
MT | m.3919T>C | CA414773801 | MT-ND1 | c.613T>C (p.Ser205Pro) | |
MT | m.3919T>G | CA414773802 | MT-ND1 | c.613T>G (p.Ser205Ala) | |
MT | m.3919T= | CA2573328876 | MT-ND1 | c.613T= (p.Ser205=) | |
MT | m.3920C>A | CA414773803 | MT-ND1 | c.614C>A (p.Ser205Tyr) | |
MT | m.3920C= | CA2573328877 | MT-ND1 | c.614C= (p.Ser205=) | |
MT | m.3920C>G | CA414773804 | MT-ND1 | c.614C>G (p.Ser205Cys) | |
MT | m.3920C>T | CA414773805 | MT-ND1 | c.614C>T (p.Ser205Phe) | |
MT | m.3921C>A | CA913176144 | MT-ND1 | c.615C>A (p.Ser205=) | ClinVar dbSNP |
MT | m.3921C= | CA2499563652 | MT-ND1 | c.615C= (p.Ser205=) | |
MT | m.3921C>G | CA913176149 | MT-ND1 | c.615C>G (p.Ser205=) | |
MT | m.3921C>T | CA337096724 | MT-ND1 | c.615C>T (p.Ser205=) | dbSNP |
MT | m.3921_3922insTCCTTCTCCTCCTTCAGCCTGGCTTG | CA2740098102 | MT-ND1 | c.615_616insTCCTTCTCCTCCTTCAGCCTGGCTTG (p.Glu206SerfsTer11) | |
MT | m.3922G>A | CA414773806 | MT-ND1 | c.616G>A (p.Glu206Lys) | |
MT | m.3922G>C | CA414773807 | MT-ND1 | c.616G>C (p.Glu206Gln) | |
MT | m.3922G= | CA2573328882 | MT-ND1 | c.616G= (p.Glu206=) | |
MT | m.3922G>T | CA414773808 | MT-ND1 | c.616G>T (p.Glu206Ter) | |
MT | m.3923A= | CA2573328885 | MT-ND1 | c.617A= (p.Glu206=) | |
MT | m.3923A>C | CA414773809 | MT-ND1 | c.617A>C (p.Glu206Ala) | |
MT | m.3923A>G | CA414773810 | MT-ND1 | c.617A>G (p.Glu206Gly) | |
MT | m.3923A>T | CA414773811 | MT-ND1 | c.617A>T (p.Glu206Val) | |
MT | m.3924A= | CA2573328887 | MT-ND1 | c.618A= (p.Glu206=) | |
MT | m.3924A>C | CA414773813 | MT-ND1 | c.618A>C (p.Glu206Asp) | |
MT | m.3924A>G | CA913176172 | MT-ND1 | c.618A>G (p.Glu206=) | dbSNP |
MT | m.3924A>T | CA414773812 | MT-ND1 | c.618A>T (p.Glu206Asp) | |
MT | m.3925C>A | CA414773814 | MT-ND1 | c.619C>A (p.Leu207Ile) | |
MT | m.3925C= | CA2573328890 | MT-ND1 | c.619C= (p.Leu207=) | |
MT | m.3925C>G | CA414773815 | MT-ND1 | c.619C>G (p.Leu207Val) | |
MT | m.3925C>T | CA913176180 | MT-ND1 | c.619C>T (p.Leu207=) | |
MT | m.3926T>A | CA414773816 | MT-ND1 | c.620T>A (p.Leu207Gln) | |
MT | m.3926T>C | CA414773817 | MT-ND1 | c.620T>C (p.Leu207Pro) | |
MT | m.3926T>G | CA414773818 | MT-ND1 | c.620T>G (p.Leu207Arg) |