Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.5045828G>A | CA383466999 | KCNA5 | c.1681G>A (p.Gly561Arg) | gnomAD v4 |
12 | g.5045828G>C | CA383467000 | KCNA5 | c.1681G>C (p.Gly561Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045828G= | CA2013431411 | KCNA5 | c.1681G= (p.Gly561=) | |
12 | g.5045828G>T | CA383467001 | KCNA5 | c.1681G>T (p.Gly561Ter) | |
12 | g.5045829G>A | CA383467004 | KCNA5 | c.1682G>A (p.Gly561Glu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045829G>C | CA383467002 | KCNA5 | c.1682G>C (p.Gly561Ala) | |
12 | g.5045829G= | CA2013431412 | KCNA5 | c.1682G= (p.Gly561=) | |
12 | g.5045829G>T | CA383467003 | KCNA5 | c.1682G>T (p.Gly561Val) | gnomAD v4 |
12 | g.5045830A= | CA2013431413 | KCNA5 | c.1683A= (p.Gly561=) | |
12 | g.5045830A>C | CA478095849 | KCNA5 | c.1683A>C (p.Gly561=) | |
12 | g.5045830A>G | CA478095847 | KCNA5 | c.1683A>G (p.Gly561=) | gnomAD v4 |
12 | g.5045830A>T | CA478095848 | KCNA5 | c.1683A>T (p.Gly561=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045831T>A | CA6399922 | KCNA5 | c.1684T>A (p.Ser562Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045831T>C | CA383467005 | KCNA5 | c.1684T>C (p.Ser562Pro) | |
12 | g.5045831T>G | CA383467006 | KCNA5 | c.1684T>G (p.Ser562Ala) | |
12 | g.5045831T= | CA2013431414 | KCNA5 | c.1684T= (p.Ser562=) | |
12 | g.5045832C>A | CA383467007 | KCNA5 | c.1685C>A (p.Ser562Tyr) | |
12 | g.5045832C>G | CA383467008 | KCNA5 | c.1685C>G (p.Ser562Cys) | |
12 | g.5045832C>T | CA383467009 | KCNA5 | c.1685C>T (p.Ser562Phe) | gnomAD v4 COSMIC |
12 | g.5045833del | CA2695215942 | KCNA5 | c.1686del (p.Phe563SerfsTer21) | |
12 | g.5045833C>A | CA478095850 | KCNA5 | c.1686C>A (p.Ser562=) | |
12 | g.5045833C= | CA2013431415 | KCNA5 | c.1686C= (p.Ser562=) | |
12 | g.5045833C>G | CA478095851 | KCNA5 | c.1686C>G (p.Ser562=) | |
12 | g.5045833C>T | CA478095852 | KCNA5 | c.1686C>T (p.Ser562=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045834T>A | CA383467010 | KCNA5 | c.1687T>A (p.Phe563Ile) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045834T>C | CA383467011 | KCNA5 | c.1687T>C (p.Phe563Leu) | |
12 | g.5045834T>G | CA383467012 | KCNA5 | c.1687T>G (p.Phe563Val) | |
12 | g.5045834T= | CA2013431416 | KCNA5 | c.1687T= (p.Phe563=) | |
12 | g.5045835T>A | CA383467013 | KCNA5 | c.1688T>A (p.Phe563Tyr) | |
12 | g.5045835T>C | CA383467014 | KCNA5 | c.1688T>C (p.Phe563Ser) | |
12 | g.5045835T>G | CA383467015 | KCNA5 | c.1688T>G (p.Phe563Cys) | |
12 | g.5045836C>A | CA383467017 | KCNA5 | c.1689C>A (p.Phe563Leu) | |
12 | g.5045836C>G | CA383467016 | KCNA5 | c.1689C>G (p.Phe563Leu) | |
12 | g.5045836C>T | CA478095853 | KCNA5 | c.1689C>T (p.Phe563=) | |
12 | g.5045837T>A | CA383467018 | KCNA5 | c.1690T>A (p.Cys564Ser) | |
12 | g.5045837T>C | CA383467019 | KCNA5 | c.1690T>C (p.Cys564Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045837T>G | CA383467020 | KCNA5 | c.1690T>G (p.Cys564Gly) | |
12 | g.5045837T= | CA2013431417 | KCNA5 | c.1690T= (p.Cys564=) | |
12 | g.5045838G>A | CA231869276 | KCNA5 | c.1691G>A (p.Cys564Tyr) | dbSNP |
12 | g.5045838G>C | CA383467021 | KCNA5 | c.1691G>C (p.Cys564Ser) | |
12 | g.5045838G= | CA2013431418 | KCNA5 | c.1691G= (p.Cys564=) | |
12 | g.5045838G>T | CA383467022 | KCNA5 | c.1691G>T (p.Cys564Phe) | |
12 | g.5045839C>A | CA383467023 | KCNA5 | c.1692C>A (p.Cys564Ter) | |
12 | g.5045839C>G | CA383467024 | KCNA5 | c.1692C>G (p.Cys564Trp) | |
12 | g.5045839C>T | CA478095855 | KCNA5 | c.1692C>T (p.Cys564=) | gnomAD v4 |
12 | g.5045840A= | CA2013431419 | KCNA5 | c.1693A= (p.Lys565=) | |
12 | g.5045840A>C | CA383467025 | KCNA5 | c.1693A>C (p.Lys565Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045840A>G | CA383467026 | KCNA5 | c.1693A>G (p.Lys565Glu) | |
12 | g.5045840A>T | CA383467027 | KCNA5 | c.1693A>T (p.Lys565Ter) | |
12 | g.5045841A>C | CA383467028 | KCNA5 | c.1694A>C (p.Lys565Thr) |