| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.5045975G>A | CA123128 | KCNA5 | c.1828G>A (p.Glu610Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5045975G>C | CA383467305 | KCNA5 | c.1828G>C (p.Glu610Gln) | |
| 12 | g.5045975G= | CA2013431484 | KCNA5 | c.1828G= (p.Glu610=) | |
| 12 | g.5045975G>T | CA383467306 | KCNA5 | c.1828G>T (p.Glu610Ter) | |
| 12 | g.5045976A= | CA2013431485 | KCNA5 | c.1829A= (p.Glu610=) | |
| 12 | g.5045976A>C | CA383467307 | KCNA5 | c.1829A>C (p.Glu610Ala) | |
| 12 | g.5045976A>G | CA6399954 | KCNA5 | c.1829A>G (p.Glu610Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.5045976A>T | CA383467308 | KCNA5 | c.1829A>T (p.Glu610Val) | dbSNP gnomAD v2 |
| 12 | g.5045977A>C | CA383467309 | KCNA5 | c.1830A>C (p.Glu610Asp) | |
| 12 | g.5045977A>G | CA478096037 | KCNA5 | c.1830A>G (p.Glu610=) | |
| 12 | g.5045977A>T | CA383467310 | KCNA5 | c.1830A>T (p.Glu610Asp) | |
| 12 | g.5045978A>C | CA383467313 | KCNA5 | c.1831A>C (p.Thr611Pro) | |
| 12 | g.5045978A>G | CA383467311 | KCNA5 | c.1831A>G (p.Thr611Ala) | |
| 12 | g.5045978A>T | CA383467312 | KCNA5 | c.1831A>T (p.Thr611Ser) | |
| 12 | g.5045979C>A | CA6399955 | KCNA5 | c.1832C>A (p.Thr611Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.5045979C= | CA2013431486 | KCNA5 | c.1832C= (p.Thr611=) | |
| 12 | g.5045979C>G | CA383467314 | KCNA5 | c.1832C>G (p.Thr611Arg) | dbSNP |
| 12 | g.5045979C>T | CA383467315 | KCNA5 | c.1832C>T (p.Thr611Ile) | gnomAD v4 |
| 12 | g.5045980A>C | CA478096041 | KCNA5 | c.1833A>C (p.Thr611=) | |
| 12 | g.5045980A>G | CA478096042 | KCNA5 | c.1833A>G (p.Thr611=) | gnomAD v4 |
| 12 | g.5045980A>T | CA478096043 | KCNA5 | c.1833A>T (p.Thr611=) | |
| 12 | g.5045981G>A | CA383467316 | KCNA5 | c.1834G>A (p.Asp612Asn) | gnomAD v4 |
| 12 | g.5045981G>C | CA383467317 | KCNA5 | c.1834G>C (p.Asp612His) | |
| 12 | g.5045981G>T | CA383467318 | KCNA5 | c.1834G>T (p.Asp612Tyr) | |
| 12 | g.5045982A>C | CA383467319 | KCNA5 | c.1835A>C (p.Asp612Ala) | |
| 12 | g.5045982A>G | CA383467320 | KCNA5 | c.1835A>G (p.Asp612Gly) | |
| 12 | g.5045982A>T | CA383467321 | KCNA5 | c.1835A>T (p.Asp612Val) | |
| 12 | g.5045983T>A | CA383467322 | KCNA5 | c.1836T>A (p.Asp612Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.5045983T>C | CA478096046 | KCNA5 | c.1836T>C (p.Asp612=) | dbSNP gnomAD v4 |
| 12 | g.5045983T>G | CA383467323 | KCNA5 | c.1836T>G (p.Asp612Glu) | |
| 12 | g.5045983T= | CA2013431487 | KCNA5 | c.1836T= (p.Asp612=) | |
| 12 | g.5045984T>A | CA383467324 | KCNA5 | c.1837T>A (p.Leu613Met) | |
| 12 | g.5045984T>C | CA478096047 | KCNA5 | c.1837T>C (p.Leu613=) | |
| 12 | g.5045984T>G | CA383467325 | KCNA5 | c.1837T>G (p.Leu613Val) | dbSNP |
| 12 | g.5045985T>A | CA6399956 | KCNA5 | c.1838T>A (p.Leu613Ter) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.5045985T>C | CA383467327 | KCNA5 | c.1838T>C (p.Leu613Ser) | |
| 12 | g.5045985T>G | CA383467326 | KCNA5 | c.1838T>G (p.Leu613Trp) | |
| 12 | g.5045985T= | CA2013431488 | KCNA5 | c.1838T= (p.Leu613=) | |
| 12 | g.5045986G>A | CA478096051 | KCNA5 | c.1839G>A (p.Leu613=) | |
| 12 | g.5045986G>C | CA383467328 | KCNA5 | c.1839G>C (p.Leu613Phe) | dbSNP |
| 12 | g.5045986G>T | CA383467329 | KCNA5 | c.1839G>T (p.Leu613Phe) | |
| 12 | g.5045987T>A | CA231869412 | KCNA5 | c.1840T>A (p.Ter614Arg) | dbSNP |
| 12 | g.5045987T>C | CA383467330 | KCNA5 | c.1840T>C (p.Ter614Arg) | |
| 12 | g.5045987T>G | CA383467331 | KCNA5 | c.1840T>G (p.Ter614Gly) | |
| 12 | g.5045987T= | CA2013431489 | KCNA5 | c.1840T= (p.Ter614=) | |
| 12 | g.5045988G>A | CA478096054 | KCNA5 | c.1841G>A (p.Ter614=) | gnomAD v4 |
| 12 | g.5045988G>C | CA383467332 | KCNA5 | c.1841G>C (p.Ter614Ser) | |
| 12 | g.5045988G>T | CA383467333 | KCNA5 | c.1841G>T (p.Ter614Leu) | |
| 12 | g.5045989A>C | CA383467334 | KCNA5 | c.1842A>C (p.Ter614Cys) | |
| 12 | g.5045989A>G | CA383467335 | KCNA5 | c.1842A>G (p.Ter614Trp) | gnomAD v4 |