Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
MT | m.5774_14768del | CA2580610836 | |||
MT | m.5794_14876del | CA250414 | ClinVar | ||
MT | m.6470_15588del | CA645373332 | ClinVar | ||
MT | m.8839_14895del | CA645373339 | ClinVar | ||
MT | m.9062_16052del | CA2580618296 | |||
MT | m.10106_15067del | CA645373340 | ClinVar | ||
MT | m.10775_14941del | CA2740090229 | ClinVar | ||
MT | m.10950_15540del | CA2580102079 | ClinVar | ||
MT | m.11263_15374del | CA645373341 | ClinVar | ||
MT | m.14746A= | CA2573327825 | |||
MT | m.14746A>C | CA2573327826 | |||
MT | m.14746A>G | CA2573327827 | |||
MT | m.14746A>T | CA2573105314 | |||
MT | m.14747del | CA2573105313 | |||
MT | m.14747A= | CA2573327828 | MT-CYB | c.1A= (p.Met1=) | |
MT | m.14747A>C | CA913171976 | MT-CYB | c.1A>C (p.Met1Leu) | |
MT | m.14747A>G | CA913171978 | MT-CYB | c.1A>G (p.Met1Val) | |
MT | m.14747A>T | CA913171977 | MT-CYB | c.1A>T (p.Met1Leu) | |
MT | m.14747_14748insATGAGACAGAAAGGATACAGGAGAAC | CA2740098395 | MT-CYB | c.1_2insATGAGACAGAAAGGATACAGGAGAAC (p.Met1AsnfsTer10) | |
MT | m.14748T>A | CA913171979 | MT-CYB | c.2T>A (p.Met1Lys) | |
MT | m.14748T>C | CA913171980 | MT-CYB | c.2T>C (p.Met1Thr) | ClinVar dbSNP |
MT | m.14748T>G | CA913171981 | MT-CYB | c.2T>G (p.Met1Arg) | |
MT | m.14748T= | CA2499568620 | MT-CYB | c.2T= (p.Met1=) | |
MT | m.14749G>A | CA913171982 | MT-CYB | c.3G>A (p.Met1Ile) | |
MT | m.14749G>C | CA913171983 | MT-CYB | c.3G>C (p.Met1Ile) | |
MT | m.14749G= | CA2513681304 | MT-CYB | c.3G= (p.Met1=) | |
MT | m.14749G>T | CA913171984 | MT-CYB | c.3G>T (p.Met1Ile) | |
MT | m.14749dup | CA2573105315 | MT-CYB | c.3dup (p.Thr2AspfsTer7) | |
MT | m.14750A= | CA2499568621 | MT-CYB | c.4A= (p.Thr2=) | |
MT | m.14750A>C | CA913171985 | MT-CYB | c.4A>C (p.Thr2Pro) | |
MT | m.14750A>G | CA913171986 | MT-CYB | c.4A>G (p.Thr2Ala) | ClinVar dbSNP |
MT | m.14750A>T | CA913171987 | MT-CYB | c.4A>T (p.Thr2Ser) | ClinVar dbSNP |
MT | m.14751C>A | CA913171990 | MT-CYB | c.5C>A (p.Thr2Asn) | |
MT | m.14751C= | CA2499568622 | MT-CYB | c.5C= (p.Thr2=) | |
MT | m.14751C>G | CA913171989 | MT-CYB | c.5C>G (p.Thr2Ser) | |
MT | m.14751C>T | CA913171988 | MT-CYB | c.5C>T (p.Thr2Ile) | ClinVar dbSNP |
MT | m.14754del | CA2573105316 | MT-CYB | c.8del (p.Pro3GlnfsTer8) | |
MT | m.14752C>A | CA913171991 | MT-CYB | c.6C>A (p.Thr2=) | |
MT | m.14752C= | CA2499568623 | MT-CYB | c.6C= (p.Thr2=) | |
MT | m.14752C>G | CA913171992 | MT-CYB | c.6C>G (p.Thr2=) | |
MT | m.14752C>T | CA645611433 | MT-CYB | c.6C>T (p.Thr2=) | dbSNP COSMIC COSMIC |
MT | m.14753C>A | CA913171993 | MT-CYB | c.7C>A (p.Pro3Thr) | |
MT | m.14753C= | CA2499568624 | MT-CYB | c.7C= (p.Pro3=) | |
MT | m.14753C>G | CA913171994 | MT-CYB | c.7C>G (p.Pro3Ala) | |
MT | m.14753C>T | CA170519 | MT-CYB | c.7C>T (p.Pro3Ser) | ClinVar dbSNP |
MT | m.14754C>A | CA913171995 | MT-CYB | c.8C>A (p.Pro3Gln) | |
MT | m.14754C= | CA2573327840 | MT-CYB | c.8C= (p.Pro3=) | |
MT | m.14754C>G | CA913171996 | MT-CYB | c.8C>G (p.Pro3Arg) | |
MT | m.14754C>T | CA913171997 | MT-CYB | c.8C>T (p.Pro3Leu) | |
MT | m.14755A= | CA2499568625 | MT-CYB | c.9A= (p.Pro3=) |