Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.59030321_59030335dup | CA636232051 | ATP5F1E | c.132_146dup (p.Lys49_Lys50insIleValLysValLys) n.836_850dup n.577_591dup | dbSNP gnomAD v2 gnomAD v4 |
20 | g.59030327A= | CA2372584926 | ATP5F1E | c.135T= (p.Ile45=) n.839T= n.580T= | |
20 | g.59030327A>C | CA409468955 | ATP5F1E | c.135T>G (p.Ile45Met) n.839T>G n.580T>G | |
20 | g.59030327A>G | CA511089880 | ATP5F1E | c.135T>C (p.Ile45=) n.839T>C n.580T>C | |
20 | g.59030327A>T | CA511089879 | ATP5F1E | c.135T>A (p.Ile45=) n.839T>A n.580T>A | dbSNP |
20 | g.59030328A= | CA2372584927 | ATP5F1E | c.134T= (p.Ile45=) n.838T= n.579T= | |
20 | g.59030328A>C | CA409468956 | ATP5F1E | c.134T>G (p.Ile45Ser) n.838T>G n.579T>G | |
20 | g.59030328A>G | CA409468957 | ATP5F1E | c.134T>C (p.Ile45Thr) n.838T>C n.579T>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.59030328A>T | CA409468958 | ATP5F1E | c.134T>A (p.Ile45Asn) n.838T>A n.579T>A | |
20 | g.59030329T>A | CA409468959 | ATP5F1E | c.133A>T (p.Ile45Phe) n.837A>T n.578A>T | |
20 | g.59030329T>C | CA409468960 | ATP5F1E | c.133A>G (p.Ile45Val) n.837A>G n.578A>G | |
20 | g.59030329T>G | CA9928730 | ATP5F1E | c.133A>C (p.Ile45Leu) n.837A>C n.578A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.59030329T= | CA2372584928 | ATP5F1E | c.133A= (p.Ile45=) n.837A= n.578A= | |
20 | g.59030330T>A | CA409468962 | ATP5F1E | c.132A>T (p.Lys44Asn) n.836A>T n.577A>T | |
20 | g.59030330T>C | CA511089881 | ATP5F1E | c.132A>G (p.Lys44=) n.836A>G n.577A>G | |
20 | g.59030330T>G | CA409468961 | ATP5F1E | c.132A>C (p.Lys44Asn) n.836A>C n.577A>C | |
20 | g.59030331T>A | CA409468963 | ATP5F1E | c.131A>T (p.Lys44Ile) n.835A>T n.576A>T | |
20 | g.59030331T>C | CA409468964 | ATP5F1E | c.131A>G (p.Lys44Arg) n.835A>G n.576A>G | |
20 | g.59030331T>G | CA409468965 | ATP5F1E | c.131A>C (p.Lys44Thr) n.835A>C n.576A>C | |
20 | g.59030332T>A | CA409468966 | ATP5F1E | c.130A>T (p.Lys44Ter) n.834A>T n.575A>T | |
20 | g.59030332T>C | CA409468967 | ATP5F1E | c.130A>G (p.Lys44Glu) n.834A>G n.575A>G | |
20 | g.59030332T>G | CA409468968 | ATP5F1E | c.130A>C (p.Lys44Gln) n.834A>C n.575A>C | |
20 | g.59030333T>A | CA511089882 | ATP5F1E | c.129A>T (p.Val43=) n.833A>T n.574A>T | |
20 | g.59030333T>C | CA511089883 | ATP5F1E | c.129A>G (p.Val43=) n.833A>G n.574A>G | |
20 | g.59030333T>G | CA511089884 | ATP5F1E | c.129A>C (p.Val43=) n.833A>C n.574A>C | |
20 | g.59030334A>C | CA409468969 | ATP5F1E | c.128T>G (p.Val43Gly) n.832T>G n.573T>G | |
20 | g.59030334A>G | CA409468970 | ATP5F1E | c.128T>C (p.Val43Ala) n.832T>C n.573T>C | |
20 | g.59030334A>T | CA409468971 | ATP5F1E | c.128T>A (p.Val43Glu) n.832T>A n.573T>A | |
20 | g.59030335C>A | CA409468972 | ATP5F1E | c.127G>T (p.Val43Leu) n.831G>T n.572G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.59030335C= | CA2372584929 | ATP5F1E | c.127G= (p.Val43=) n.831G= n.572G= | |
20 | g.59030335C>G | CA409468973 | ATP5F1E | c.127G>C (p.Val43Leu) n.831G>C n.572G>C | |
20 | g.59030335C>T | CA9928731 | ATP5F1E | c.127G>A (p.Val43Ile) n.831G>A n.572G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.59030336G>A | CA9928732 | ATP5F1E | c.126C>T (p.Asn42=) n.830C>T n.571C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.59030336G>C | CA409468974 | ATP5F1E | c.126C>G (p.Asn42Lys) n.830C>G n.571C>G | |
20 | g.59030336G= | CA2372584930 | ATP5F1E | c.126C= (p.Asn42=) n.830C= n.571C= | |
20 | g.59030336G>T | CA409468975 | ATP5F1E | c.126C>A (p.Asn42Lys) n.830C>A n.571C>A | |
20 | g.59030337T>A | CA409468976 | ATP5F1E | c.125A>T (p.Asn42Ile) n.829A>T n.570A>T | |
20 | g.59030337T>C | CA409468977 | ATP5F1E | c.125A>G (p.Asn42Ser) n.829A>G n.570A>G | dbSNP gnomAD v4 |
20 | g.59030337T>G | CA409468978 | ATP5F1E | c.125A>C (p.Asn42Thr) n.829A>C n.570A>C | |
20 | g.59030337T= | CA2372584931 | ATP5F1E | c.125A= (p.Asn42=) n.829A= n.570A= | |
20 | g.59030338T>A | CA409468979 | ATP5F1E | c.124A>T (p.Asn42Tyr) n.828A>T n.569A>T | |
20 | g.59030338T>C | CA9928733 | ATP5F1E | c.124A>G (p.Asn42Asp) n.828A>G n.569A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.59030338T>G | CA409468980 | ATP5F1E | c.124A>C (p.Asn42His) n.828A>C n.569A>C | |
20 | g.59030338T= | CA2372584932 | ATP5F1E | c.124A= (p.Asn42=) n.828A= n.569A= | |
20 | g.59030339G>A | CA9928734 | ATP5F1E | c.123C>T (p.Ser41=) n.827C>T n.568C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.59030339G>C | CA409468982 | ATP5F1E | c.123C>G (p.Ser41Arg) n.827C>G n.568C>G | |
20 | g.59030339G= | CA2372584933 | ATP5F1E | c.123C= (p.Ser41=) n.827C= n.568C= | |
20 | g.59030339G>T | CA409468981 | ATP5F1E | c.123C>A (p.Ser41Arg) n.827C>A n.568C>A | |
20 | g.59030340C>A | CA409468983 | ATP5F1E | c.122G>T (p.Ser41Ile) n.826G>T n.567G>T | |
20 | g.59030340C= | CA2372584934 | ATP5F1E | c.122G= (p.Ser41=) n.826G= n.567G= |