| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.5045875C>A | CA478095887 | KCNA5 | c.1728C>A (p.Ala576=) | |
| 12 | g.5045875C>G | CA478095888 | KCNA5 | c.1728C>G (p.Ala576=) | |
| 12 | g.5045875C>T | CA478095889 | KCNA5 | c.1728C>T (p.Ala576=) | gnomAD v4 |
| 12 | g.5045876C>A | CA478095890 | KCNA5 | c.1729C>A (p.Arg577=) | |
| 12 | g.5045876C= | CA2013431443 | KCNA5 | c.1729C= (p.Arg577=) | |
| 12 | g.5045876C>G | CA383467097 | KCNA5 | c.1729C>G (p.Arg577Gly) | |
| 12 | g.5045876C>T | CA6399934 | KCNA5 | c.1729C>T (p.Arg577Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.5045877G>A | CA6399935 | KCNA5 | c.1730G>A (p.Arg577Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.5045877G>C | CA383467098 | KCNA5 | c.1730G>C (p.Arg577Pro) | |
| 12 | g.5045877G= | CA2013431444 | KCNA5 | c.1730G= (p.Arg577=) | |
| 12 | g.5045877G>T | CA383467099 | KCNA5 | c.1730G>T (p.Arg577Leu) | gnomAD v4 |
| 12 | g.5045878A>C | CA478095891 | KCNA5 | c.1731A>C (p.Arg577=) | |
| 12 | g.5045878A>G | CA478095892 | KCNA5 | c.1731A>G (p.Arg577=) | |
| 12 | g.5045878A>T | CA478095893 | KCNA5 | c.1731A>T (p.Arg577=) | |
| 12 | g.5045879A>C | CA478095894 | KCNA5 | c.1732A>C (p.Arg578=) | |
| 12 | g.5045879A>G | CA383467100 | KCNA5 | c.1732A>G (p.Arg578Gly) | |
| 12 | g.5045879A>T | CA383467101 | KCNA5 | c.1732A>T (p.Arg578Trp) | |
| 12 | g.5045880G>A | CA199951 | KCNA5 | c.1733G>A (p.Arg578Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5045880G>C | CA383467102 | KCNA5 | c.1733G>C (p.Arg578Thr) | |
| 12 | g.5045880G= | CA2013431445 | KCNA5 | c.1733G= (p.Arg578=) | |
| 12 | g.5045880G>T | CA383467103 | KCNA5 | c.1733G>T (p.Arg578Met) | |
| 12 | g.5045881G>A | CA478095895 | KCNA5 | c.1734G>A (p.Arg578=) | gnomAD v4 |
| 12 | g.5045881G>C | CA383467104 | KCNA5 | c.1734G>C (p.Arg578Ser) | |
| 12 | g.5045881G>T | CA383467105 | KCNA5 | c.1734G>T (p.Arg578Ser) | |
| 12 | g.5045882G>A | CA6399936 | KCNA5 | c.1735G>A (p.Gly579Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.5045882G>C | CA383467106 | KCNA5 | c.1735G>C (p.Gly579Arg) | |
| 12 | g.5045882G= | CA2013431446 | KCNA5 | c.1735G= (p.Gly579=) | |
| 12 | g.5045882G>T | CA383467107 | KCNA5 | c.1735G>T (p.Gly579Cys) | |
| 12 | g.5045883G>A | CA6399937 | KCNA5 | c.1736G>A (p.Gly579Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.5045883G>C | CA383467108 | KCNA5 | c.1736G>C (p.Gly579Ala) | |
| 12 | g.5045883G= | CA2013431447 | KCNA5 | c.1736G= (p.Gly579=) | |
| 12 | g.5045883G>T | CA6399938 | KCNA5 | c.1736G>T (p.Gly579Val) | dbSNP ExAC gnomAD v2 |
| 12 | g.5045884C>A | CA478095896 | KCNA5 | c.1737C>A (p.Gly579=) | gnomAD v4 |
| 12 | g.5045884C>G | CA478095897 | KCNA5 | c.1737C>G (p.Gly579=) | |
| 12 | g.5045884C>T | CA478095898 | KCNA5 | c.1737C>T (p.Gly579=) | |
| 12 | g.5045885A>C | CA383467109 | KCNA5 | c.1738A>C (p.Ser580Arg) | |
| 12 | g.5045885A>G | CA383467110 | KCNA5 | c.1738A>G (p.Ser580Gly) | |
| 12 | g.5045885A>T | CA383467111 | KCNA5 | c.1738A>T (p.Ser580Cys) | |
| 12 | g.5045886G>A | CA383467112 | KCNA5 | c.1739G>A (p.Ser580Asn) | |
| 12 | g.5045886G>C | CA383467113 | KCNA5 | c.1739G>C (p.Ser580Thr) | |
| 12 | g.5045886G>T | CA383467114 | KCNA5 | c.1739G>T (p.Ser580Ile) | |
| 12 | g.5045887C>A | CA383467115 | KCNA5 | c.1740C>A (p.Ser580Arg) | |
| 12 | g.5045887C= | CA2013431448 | KCNA5 | c.1740C= (p.Ser580=) | |
| 12 | g.5045887C>G | CA383467116 | KCNA5 | c.1740C>G (p.Ser580Arg) | |
| 12 | g.5045887C>T | CA6399939 | KCNA5 | c.1740C>T (p.Ser580=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.5045888T>A | CA383467117 | KCNA5 | c.1741T>A (p.Cys581Ser) | |
| 12 | g.5045888T>C | CA383467118 | KCNA5 | c.1741T>C (p.Cys581Arg) | |
| 12 | g.5045888T>G | CA383467119 | KCNA5 | c.1741T>G (p.Cys581Gly) | |
| 12 | g.5045889G>A | CA383467122 | KCNA5 | c.1742G>A (p.Cys581Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.5045889G>C | CA383467121 | KCNA5 | c.1742G>C (p.Cys581Ser) |